Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806315T>A | CA384880331 | SCN8A | c.4829T>A (p.Phe1610Tyr) c.2893T>A c.4706T>A (p.Phe1569Tyr) c.4862T>A (p.Phe1621Tyr) | |
12 | g.51806315T>C | CA384880332 | SCN8A | c.4829T>C (p.Phe1610Ser) c.2893T>C c.4706T>C (p.Phe1569Ser) c.4862T>C (p.Phe1621Ser) | |
12 | g.51806315T>G | CA384880333 | SCN8A | c.4829T>G (p.Phe1610Cys) c.2893T>G c.4706T>G (p.Phe1569Cys) c.4862T>G (p.Phe1621Cys) | |
12 | g.51806316T>A | CA384880334 | SCN8A | c.4830T>A (p.Phe1610Leu) c.2894T>A c.4707T>A (p.Phe1569Leu) c.4863T>A (p.Phe1621Leu) | |
12 | g.51806316T>C | CA6571873 | SCN8A | c.4830T>C (p.Phe1610=) c.2894T>C c.4707T>C (p.Phe1569=) c.4863T>C (p.Phe1621=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806316T>G | CA384880335 | SCN8A | c.4830T>G (p.Phe1610Leu) c.2894T>G c.4707T>G (p.Phe1569Leu) c.4863T>G (p.Phe1621Leu) | |
12 | g.51806316T= | CA2036192739 | SCN8A | c.4830T= (p.Phe1610=) c.2894T= c.4707T= (p.Phe1569=) c.4863T= (p.Phe1621=) | |
12 | g.51806317G>A | CA384880336 | SCN8A | c.4831G>A (p.Val1611Ile) c.2895G>A c.4708G>A (p.Val1570Ile) c.4864G>A (p.Val1622Ile) | |
12 | g.51806317G>C | CA384880337 | SCN8A | c.4831G>C (p.Val1611Leu) c.2895G>C c.4708G>C (p.Val1570Leu) c.4864G>C (p.Val1622Leu) | |
12 | g.51806317G>T | CA384880338 | SCN8A | c.4831G>T (p.Val1611Phe) c.2895G>T c.4708G>T (p.Val1570Phe) c.4864G>T (p.Val1622Phe) | |
12 | g.51806318T>A | CA384880339 | SCN8A | c.4832T>A (p.Val1611Asp) c.2896T>A c.4709T>A (p.Val1570Asp) c.4865T>A (p.Val1622Asp) | |
12 | g.51806318T>C | CA384880340 | SCN8A | c.4832T>C (p.Val1611Ala) c.2896T>C c.4709T>C (p.Val1570Ala) c.4865T>C (p.Val1622Ala) | |
12 | g.51806318T>G | CA384880341 | SCN8A | c.4832T>G (p.Val1611Gly) c.2896T>G c.4709T>G (p.Val1570Gly) c.4865T>G (p.Val1622Gly) | |
12 | g.51806319T>A | CA479788008 | SCN8A | c.4833T>A (p.Val1611=) c.2897T>A c.4710T>A (p.Val1570=) c.4866T>A (p.Val1622=) | |
12 | g.51806319T>C | CA479788009 | SCN8A | c.4833T>C (p.Val1611=) c.2897T>C c.4710T>C (p.Val1570=) c.4866T>C (p.Val1622=) | gnomAD v4 |
12 | g.51806319T>G | CA479788010 | SCN8A | c.4833T>G (p.Val1611=) c.2897T>G c.4710T>G (p.Val1570=) c.4866T>G (p.Val1622=) | |
12 | g.51806320T>A | CA384880342 | SCN8A | c.4834T>A (p.Ser1612Thr) c.2898T>A c.4711T>A (p.Ser1571Thr) c.4867T>A (p.Ser1623Thr) | |
12 | g.51806320T>C | CA384880343 | SCN8A | c.4834T>C (p.Ser1612Pro) c.2898T>C c.4711T>C (p.Ser1571Pro) c.4867T>C (p.Ser1623Pro) | |
12 | g.51806320T>G | CA384880344 | SCN8A | c.4834T>G (p.Ser1612Ala) c.2898T>G c.4711T>G (p.Ser1571Ala) c.4867T>G (p.Ser1623Ala) | |
12 | g.51806321C>A | CA384880346 | SCN8A | c.4835C>A (p.Ser1612Tyr) c.2899C>A c.4712C>A (p.Ser1571Tyr) c.4868C>A (p.Ser1623Tyr) | |
12 | g.51806321C>G | CA384880347 | SCN8A | c.4835C>G (p.Ser1612Cys) c.2899C>G c.4712C>G (p.Ser1571Cys) c.4868C>G (p.Ser1623Cys) | |
12 | g.51806321C>T | CA384880348 | SCN8A | c.4835C>T (p.Ser1612Phe) c.2899C>T c.4712C>T (p.Ser1571Phe) c.4868C>T (p.Ser1623Phe) | |
12 | g.51806322C>A | CA479788012 | SCN8A | c.4836C>A (p.Ser1612=) c.2900C>A c.4713C>A (p.Ser1571=) c.4869C>A (p.Ser1623=) | |
12 | g.51806322C>G | CA479788013 | SCN8A | c.4836C>G (p.Ser1612=) c.2900C>G c.4713C>G (p.Ser1571=) c.4869C>G (p.Ser1623=) | |
12 | g.51806322C>T | CA479788014 | SCN8A | c.4836C>T (p.Ser1612=) c.2900C>T c.4713C>T (p.Ser1571=) c.4869C>T (p.Ser1623=) | ClinVar dbSNP gnomAD v4 |
12 | g.51806323C>A | CA384880349 | SCN8A | c.4837C>A (p.Pro1613Thr) c.2901C>A c.4714C>A (p.Pro1572Thr) c.4870C>A (p.Pro1624Thr) | gnomAD v4 |
12 | g.51806323C= | CA2036192749 | SCN8A | c.4837C= (p.Pro1613=) c.2901C= c.4714C= (p.Pro1572=) c.4870C= (p.Pro1624=) | |
12 | g.51806323C>G | CA236327317 | SCN8A | c.4837C>G (p.Pro1613Ala) c.2901C>G c.4714C>G (p.Pro1572Ala) c.4870C>G (p.Pro1624Ala) | dbSNP |
12 | g.51806323C>T | CA384880350 | SCN8A | c.4837C>T (p.Pro1613Ser) c.2901C>T c.4714C>T (p.Pro1572Ser) c.4870C>T (p.Pro1624Ser) | COSMIC COSMIC |
12 | g.51806324C>A | CA384880351 | SCN8A | c.4838C>A (p.Pro1613Gln) c.2902C>A c.4715C>A (p.Pro1572Gln) c.4871C>A (p.Pro1624Gln) | gnomAD v4 |
12 | g.51806324C>G | CA384880352 | SCN8A | c.4838C>G (p.Pro1613Arg) c.2902C>G c.4715C>G (p.Pro1572Arg) c.4871C>G (p.Pro1624Arg) | |
12 | g.51806324C>T | CA384880353 | SCN8A | c.4838C>T (p.Pro1613Leu) c.2902C>T c.4715C>T (p.Pro1572Leu) c.4871C>T (p.Pro1624Leu) | |
12 | g.51806325A= | CA2036192753 | SCN8A | c.4839A= (p.Pro1613=) c.2903A= c.4716A= (p.Pro1572=) c.4872A= (p.Pro1624=) | |
12 | g.51806325A>C | CA479788015 | SCN8A | c.4839A>C (p.Pro1613=) c.2903A>C c.4716A>C (p.Pro1572=) c.4872A>C (p.Pro1624=) | |
12 | g.51806325A>G | CA479788016 | SCN8A | c.4839A>G (p.Pro1613=) c.2903A>G c.4716A>G (p.Pro1572=) c.4872A>G (p.Pro1624=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806325A>T | CA479788017 | SCN8A | c.4839A>T (p.Pro1613=) c.2903A>T c.4716A>T (p.Pro1572=) c.4872A>T (p.Pro1624=) | |
12 | g.51806326A= | CA2036192756 | SCN8A | c.4840A= (p.Thr1614=) c.2904A= c.4717A= (p.Thr1573=) c.4873A= (p.Thr1625=) | |
12 | g.51806326A>C | CA384880354 | SCN8A | c.4840A>C (p.Thr1614Pro) c.2904A>C c.4717A>C (p.Thr1573Pro) c.4873A>C (p.Thr1625Pro) | |
12 | g.51806326A>G | CA384880355 | SCN8A | c.4840A>G (p.Thr1614Ala) c.2904A>G c.4717A>G (p.Thr1573Ala) c.4873A>G (p.Thr1625Ala) | ClinVar dbSNP |
12 | g.51806326A>T | CA384880356 | SCN8A | c.4840A>T (p.Thr1614Ser) c.2904A>T c.4717A>T (p.Thr1573Ser) c.4873A>T (p.Thr1625Ser) | |
12 | g.51806327C>A | CA384880359 | SCN8A | c.4841C>A (p.Thr1614Asn) c.2905C>A c.4718C>A (p.Thr1573Asn) c.4874C>A (p.Thr1625Asn) | ClinVar |
12 | g.51806327C>G | CA384880357 | SCN8A | c.4841C>G (p.Thr1614Ser) c.2905C>G c.4718C>G (p.Thr1573Ser) c.4874C>G (p.Thr1625Ser) | |
12 | g.51806327C>T | CA384880358 | SCN8A | c.4841C>T (p.Thr1614Ile) c.2905C>T c.4718C>T (p.Thr1573Ile) c.4874C>T (p.Thr1625Ile) | |
12 | g.51806328C>A | CA479788019 | SCN8A | c.4842C>A (p.Thr1614=) c.2906C>A c.4719C>A (p.Thr1573=) c.4875C>A (p.Thr1625=) | |
12 | g.51806328C>G | CA479788021 | SCN8A | c.4842C>G (p.Thr1614=) c.2906C>G c.4719C>G (p.Thr1573=) c.4875C>G (p.Thr1625=) | |
12 | g.51806328C>T | CA479788022 | SCN8A | c.4842C>T (p.Thr1614=) c.2906C>T c.4719C>T (p.Thr1573=) c.4875C>T (p.Thr1625=) | ClinVar dbSNP |
12 | g.51806329C>A | CA384880360 | SCN8A | c.4843C>A (p.Leu1615Ile) c.2907C>A c.4720C>A (p.Leu1574Ile) c.4876C>A (p.Leu1626Ile) | |
12 | g.51806329C>G | CA384880361 | SCN8A | c.4843C>G (p.Leu1615Val) c.2907C>G c.4720C>G (p.Leu1574Val) c.4876C>G (p.Leu1626Val) | |
12 | g.51806329C>T | CA479788023 | SCN8A | c.4843C>T (p.Leu1615=) c.2907C>T c.4720C>T (p.Leu1574=) c.4876C>T (p.Leu1626=) | gnomAD v4 |
12 | g.51806330T>A | CA384880362 | SCN8A | c.4844T>A (p.Leu1615Gln) c.2908T>A c.4721T>A (p.Leu1574Gln) c.4877T>A (p.Leu1626Gln) | |
12 | g.51806330T>C | CA384880363 | SCN8A | c.4844T>C (p.Leu1615Pro) c.2908T>C c.4721T>C (p.Leu1574Pro) c.4877T>C (p.Leu1626Pro) | |
12 | g.51806330T>G | CA384880364 | SCN8A | c.4844T>G (p.Leu1615Arg) c.2908T>G c.4721T>G (p.Leu1574Arg) c.4877T>G (p.Leu1626Arg) | |
12 | g.51806331A>C | CA479788027 | SCN8A | c.4845A>C (p.Leu1615=) c.2909A>C c.4722A>C (p.Leu1574=) c.4878A>C (p.Leu1626=) | |
12 | g.51806331A>G | CA479788028 | SCN8A | c.4845A>G (p.Leu1615=) c.2909A>G c.4722A>G (p.Leu1574=) c.4878A>G (p.Leu1626=) | |
12 | g.51806331A>T | CA479788029 | SCN8A | c.4845A>T (p.Leu1615=) c.2909A>T c.4722A>T (p.Leu1574=) c.4878A>T (p.Leu1626=) | |
12 | g.51806332T>A | CA384880365 | SCN8A | c.4846T>A (p.Phe1616Ile) c.2910T>A c.4723T>A (p.Phe1575Ile) c.4879T>A (p.Phe1627Ile) | |
12 | g.51806332T>C | CA384880367 | SCN8A | c.4846T>C (p.Phe1616Leu) c.2910T>C c.4723T>C (p.Phe1575Leu) c.4879T>C (p.Phe1627Leu) | |
12 | g.51806332T>G | CA384880366 | SCN8A | c.4846T>G (p.Phe1616Val) c.2910T>G c.4723T>G (p.Phe1575Val) c.4879T>G (p.Phe1627Val) | |
12 | g.51806333T>A | CA384880368 | SCN8A | c.4847T>A (p.Phe1616Tyr) c.2911T>A c.4724T>A (p.Phe1575Tyr) c.4880T>A (p.Phe1627Tyr) | |
12 | g.51806333T>C | CA384880369 | SCN8A | c.4847T>C (p.Phe1616Ser) c.2911T>C c.4724T>C (p.Phe1575Ser) c.4880T>C (p.Phe1627Ser) | |
12 | g.51806333T>G | CA384880370 | SCN8A | c.4847T>G (p.Phe1616Cys) c.2911T>G c.4724T>G (p.Phe1575Cys) c.4880T>G (p.Phe1627Cys) | |
12 | g.51806334C>A | CA384880371 | SCN8A | c.4848C>A (p.Phe1616Leu) c.2912C>A c.4725C>A (p.Phe1575Leu) c.4881C>A (p.Phe1627Leu) | |
12 | g.51806334C>G | CA384880372 | SCN8A | c.4848C>G (p.Phe1616Leu) c.2912C>G c.4725C>G (p.Phe1575Leu) c.4881C>G (p.Phe1627Leu) | |
12 | g.51806334C>T | CA479788030 | SCN8A | c.4848C>T (p.Phe1616=) c.2912C>T c.4725C>T (p.Phe1575=) c.4881C>T (p.Phe1627=) | |
12 | g.51806334_51806338del | CA2739291672 | SCN8A | c.4848_4852del (p.Arg1617HisfsTer?) c.2912_2916del c.4725_4729del (p.Arg1576HisfsTer?) c.4881_4885del (p.Arg1628HisfsTer?) | |
12 | g.51806335C>A | CA479788032 | SCN8A | c.4849C>A (p.Arg1617=) c.2913C>A c.4726C>A (p.Arg1576=) c.4882C>A (p.Arg1628=) | |
12 | g.51806335C= | CA2036192768 | SCN8A | c.4849C= (p.Arg1617=) c.2913C= c.4726C= (p.Arg1576=) c.4882C= (p.Arg1628=) | |
12 | g.51806335C>G | CA384880373 | SCN8A | c.4849C>G (p.Arg1617Gly) c.2913C>G c.4726C>G (p.Arg1576Gly) c.4882C>G (p.Arg1628Gly) | |
12 | g.51806335C>T | CA6571874 | SCN8A | c.4849C>T (p.Arg1617Ter) c.2913C>T c.4726C>T (p.Arg1576Ter) c.4882C>T (p.Arg1628Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806336G>A | CA170757 | SCN8A | c.4850G>A (p.Arg1617Gln) c.2914G>A c.4727G>A (p.Arg1576Gln) c.4883G>A (p.Arg1628Gln) | ClinVar dbSNP |
12 | g.51806336G>C | CA384880374 | SCN8A | c.4850G>C (p.Arg1617Pro) c.2914G>C c.4727G>C (p.Arg1576Pro) c.4883G>C (p.Arg1628Pro) | |
12 | g.51806336G= | CA2036192779 | SCN8A | c.4850G= (p.Arg1617=) c.2914G= c.4727G= (p.Arg1576=) c.4883G= (p.Arg1628=) | |
12 | g.51806336G>T | CA384880375 | SCN8A | c.4850G>T (p.Arg1617Leu) c.2914G>T c.4727G>T (p.Arg1576Leu) c.4883G>T (p.Arg1628Leu) | ClinVar dbSNP |
12 | g.51806337A>C | CA479788035 | SCN8A | c.4851A>C (p.Arg1617=) c.2915A>C c.4728A>C (p.Arg1576=) c.4884A>C (p.Arg1628=) | |
12 | g.51806337A>G | CA479788033 | SCN8A | c.4851A>G (p.Arg1617=) c.2915A>G c.4728A>G (p.Arg1576=) c.4884A>G (p.Arg1628=) | gnomAD v4 |
12 | g.51806337A>T | CA479788034 | SCN8A | c.4851A>T (p.Arg1617=) c.2915A>T c.4728A>T (p.Arg1576=) c.4884A>T (p.Arg1628=) | |
12 | g.51806338G>A | CA384880376 | SCN8A | c.4852G>A (p.Val1618Ile) c.2916G>A c.4729G>A (p.Val1577Ile) c.4885G>A (p.Val1629Ile) | COSMIC COSMIC |
12 | g.51806338G>C | CA384880378 | SCN8A | c.4852G>C (p.Val1618Leu) c.2916G>C c.4729G>C (p.Val1577Leu) c.4885G>C (p.Val1629Leu) | |
12 | g.51806338G>T | CA384880377 | SCN8A | c.4852G>T (p.Val1618Phe) c.2916G>T c.4729G>T (p.Val1577Phe) c.4885G>T (p.Val1629Phe) | |
12 | g.51806339T>A | CA384880379 | SCN8A | c.4853T>A (p.Val1618Asp) c.2917T>A c.4730T>A (p.Val1577Asp) c.4886T>A (p.Val1629Asp) | |
12 | g.51806339T>C | CA384880381 | SCN8A | c.4853T>C (p.Val1618Ala) c.2917T>C c.4730T>C (p.Val1577Ala) c.4886T>C (p.Val1629Ala) | |
12 | g.51806339T>G | CA384880380 | SCN8A | c.4853T>G (p.Val1618Gly) c.2917T>G c.4730T>G (p.Val1577Gly) c.4886T>G (p.Val1629Gly) | |
12 | g.51806340C>A | CA479788037 | SCN8A | c.4854C>A (p.Val1618=) c.2918C>A c.4731C>A (p.Val1577=) c.4887C>A (p.Val1629=) | |
12 | g.51806340C>G | CA479788040 | SCN8A | c.4854C>G (p.Val1618=) c.2918C>G c.4731C>G (p.Val1577=) c.4887C>G (p.Val1629=) | |
12 | g.51806340C>T | CA479788038 | SCN8A | c.4854C>T (p.Val1618=) c.2918C>T c.4731C>T (p.Val1577=) c.4887C>T (p.Val1629=) | |
12 | g.51806341A= | CA2036192790 | SCN8A | c.4855A= (p.Ile1619=) c.2919A= c.4732A= (p.Ile1578=) c.4888A= (p.Ile1630=) | |
12 | g.51806341A>C | CA384880382 | SCN8A | c.4855A>C (p.Ile1619Leu) c.2919A>C c.4732A>C (p.Ile1578Leu) c.4888A>C (p.Ile1630Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806341A>G | CA384880384 | SCN8A | c.4855A>G (p.Ile1619Val) c.2919A>G c.4732A>G (p.Ile1578Val) c.4888A>G (p.Ile1630Val) | |
12 | g.51806341A>T | CA384880383 | SCN8A | c.4855A>T (p.Ile1619Phe) c.2919A>T c.4732A>T (p.Ile1578Phe) c.4888A>T (p.Ile1630Phe) | |
12 | g.51806342T>A | CA384880385 | SCN8A | c.4856T>A (p.Ile1619Asn) c.2920T>A c.4733T>A (p.Ile1578Asn) c.4889T>A (p.Ile1630Asn) | |
12 | g.51806342T>C | CA384880386 | SCN8A | c.4856T>C (p.Ile1619Thr) c.2920T>C c.4733T>C (p.Ile1578Thr) c.4889T>C (p.Ile1630Thr) | |
12 | g.51806342T>G | CA384880387 | SCN8A | c.4856T>G (p.Ile1619Ser) c.2920T>G c.4733T>G (p.Ile1578Ser) c.4889T>G (p.Ile1630Ser) | |
12 | g.51806343C>A | CA479788042 | SCN8A | c.4857C>A (p.Ile1619=) c.2921C>A c.4734C>A (p.Ile1578=) c.4890C>A (p.Ile1630=) | gnomAD v4 |
12 | g.51806343C= | CA2036192795 | SCN8A | c.4857C= (p.Ile1619=) c.2921C= c.4734C= (p.Ile1578=) c.4890C= (p.Ile1630=) | |
12 | g.51806343C>G | CA384880388 | SCN8A | c.4857C>G (p.Ile1619Met) c.2921C>G c.4734C>G (p.Ile1578Met) c.4890C>G (p.Ile1630Met) | |
12 | g.51806343C>T | CA479788044 | SCN8A | c.4857C>T (p.Ile1619=) c.2921C>T c.4734C>T (p.Ile1578=) c.4890C>T (p.Ile1630=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806344C>A | CA479788045 | SCN8A | c.4858C>A (p.Arg1620=) c.2922C>A c.4735C>A (p.Arg1579=) c.4891C>A (p.Arg1631=) | gnomAD v4 |
12 | g.51806344C= | CA2036192798 | SCN8A | c.4858C= (p.Arg1620=) c.2922C= c.4735C= (p.Arg1579=) c.4891C= (p.Arg1631=) | |
12 | g.51806344C>G | CA384880389 | SCN8A | c.4858C>G (p.Arg1620Gly) c.2922C>G c.4735C>G (p.Arg1579Gly) c.4891C>G (p.Arg1631Gly) | |
12 | g.51806344C>T | CA384880390 | SCN8A | c.4858C>T (p.Arg1620Ter) c.2922C>T c.4735C>T (p.Arg1579Ter) c.4891C>T (p.Arg1631Ter) | ClinVar dbSNP COSMIC COSMIC |
12 | g.51806345G>A | CA384880391 | SCN8A | c.4859G>A (p.Arg1620Gln) c.2923G>A c.4736G>A (p.Arg1579Gln) c.4892G>A (p.Arg1631Gln) | gnomAD v4 |
12 | g.51806345G>C | CA384880392 | SCN8A | c.4859G>C (p.Arg1620Pro) c.2923G>C c.4736G>C (p.Arg1579Pro) c.4892G>C (p.Arg1631Pro) | |
12 | g.51806345G= | CA2036192803 | SCN8A | c.4859G= (p.Arg1620=) c.2923G= c.4736G= (p.Arg1579=) c.4892G= (p.Arg1631=) | |
12 | g.51806345G>T | CA358166 | SCN8A | c.4859G>T (p.Arg1620Leu) c.2923G>T c.4736G>T (p.Arg1579Leu) c.4892G>T (p.Arg1631Leu) | ClinVar dbSNP |
12 | g.51806346_51806349dup | CA2695216870 | SCN8A | c.4860_4863dup (p.Ala1622IlefsTer?) c.2924_2927dup c.4737_4740dup (p.Ala1581IlefsTer?) c.4893_4896dup (p.Ala1633IlefsTer?) | |
12 | g.51806346A>C | CA479788052 | SCN8A | c.4860A>C (p.Arg1620=) c.2924A>C c.4737A>C (p.Arg1579=) c.4893A>C (p.Arg1631=) | |
12 | g.51806346A>G | CA479788054 | SCN8A | c.4860A>G (p.Arg1620=) c.2924A>G c.4737A>G (p.Arg1579=) c.4893A>G (p.Arg1631=) | gnomAD v4 |
12 | g.51806346A>T | CA479788055 | SCN8A | c.4860A>T (p.Arg1620=) c.2924A>T c.4737A>T (p.Arg1579=) c.4893A>T (p.Arg1631=) | |
12 | g.51806347T>A | CA384880393 | SCN8A | c.4861T>A (p.Leu1621Met) c.2925T>A c.4738T>A (p.Leu1580Met) c.4894T>A (p.Leu1632Met) | |
12 | g.51806347T>C | CA479788056 | SCN8A | c.4861T>C (p.Leu1621=) c.2925T>C c.4738T>C (p.Leu1580=) c.4894T>C (p.Leu1632=) | ClinVar dbSNP gnomAD v4 |
12 | g.51806347T>G | CA384880394 | SCN8A | c.4861T>G (p.Leu1621Val) c.2925T>G c.4738T>G (p.Leu1580Val) c.4894T>G (p.Leu1632Val) | |
12 | g.51806348T>A | CA384880396 | SCN8A | c.4862T>A (p.Leu1621Ter) c.2926T>A c.4739T>A (p.Leu1580Ter) c.4895T>A (p.Leu1632Ter) | dbSNP |
12 | g.51806348T>C | CA384880395 | SCN8A | c.4862T>C (p.Leu1621Ser) c.2926T>C c.4739T>C (p.Leu1580Ser) c.4895T>C (p.Leu1632Ser) | |
12 | g.51806348T>G | CA10586297 | SCN8A | c.4862T>G (p.Leu1621Trp) c.2926T>G c.4739T>G (p.Leu1580Trp) c.4895T>G (p.Leu1632Trp) | ClinVar dbSNP |
12 | g.51806348T= | CA2036192806 | SCN8A | c.4862T= (p.Leu1621=) c.2926T= c.4739T= (p.Leu1580=) c.4895T= (p.Leu1632=) | |
12 | g.51806349G>A | CA479788057 | SCN8A | c.4863G>A (p.Leu1621=) c.2927G>A c.4740G>A (p.Leu1580=) c.4896G>A (p.Leu1632=) | |
12 | g.51806349G>C | CA384880397 | SCN8A | c.4863G>C (p.Leu1621Phe) c.2927G>C c.4740G>C (p.Leu1580Phe) c.4896G>C (p.Leu1632Phe) | |
12 | g.51806349G>T | CA384880398 | SCN8A | c.4863G>T (p.Leu1621Phe) c.2927G>T c.4740G>T (p.Leu1580Phe) c.4896G>T (p.Leu1632Phe) | gnomAD v4 |
12 | g.51806350G>A | CA384880399 | SCN8A | c.4864G>A (p.Ala1622Thr) c.2928G>A c.4741G>A (p.Ala1581Thr) c.4897G>A (p.Ala1633Thr) | |
12 | g.51806350G>C | CA384880400 | SCN8A | c.4864G>C (p.Ala1622Pro) c.2928G>C c.4741G>C (p.Ala1581Pro) c.4897G>C (p.Ala1633Pro) | |
12 | g.51806350G>T | CA384880401 | SCN8A | c.4864G>T (p.Ala1622Ser) c.2928G>T c.4741G>T (p.Ala1581Ser) c.4897G>T (p.Ala1633Ser) | |
12 | g.51806351C>A | CA384880402 | SCN8A | c.4865C>A (p.Ala1622Asp) c.2929C>A c.4742C>A (p.Ala1581Asp) c.4898C>A (p.Ala1633Asp) | ClinVar dbSNP gnomAD v4 |
12 | g.51806351C= | CA2036192815 | SCN8A | c.4865C= (p.Ala1622=) c.2929C= c.4742C= (p.Ala1581=) c.4898C= (p.Ala1633=) | |
12 | g.51806351C>G | CA384880403 | SCN8A | c.4865C>G (p.Ala1622Gly) c.2929C>G c.4742C>G (p.Ala1581Gly) c.4898C>G (p.Ala1633Gly) | |
12 | g.51806351C>T | CA384880404 | SCN8A | c.4865C>T (p.Ala1622Val) c.2929C>T c.4742C>T (p.Ala1581Val) c.4898C>T (p.Ala1633Val) | |
12 | g.51806352C>A | CA479788060 | SCN8A | c.4866C>A (p.Ala1622=) c.2930C>A c.4743C>A (p.Ala1581=) c.4899C>A (p.Ala1633=) | gnomAD v4 |
12 | g.51806352C>G | CA479788061 | SCN8A | c.4866C>G (p.Ala1622=) c.2930C>G c.4743C>G (p.Ala1581=) c.4899C>G (p.Ala1633=) | |
12 | g.51806352C>T | CA479788062 | SCN8A | c.4866C>T (p.Ala1622=) c.2930C>T c.4743C>T (p.Ala1581=) c.4899C>T (p.Ala1633=) | |
12 | g.51806353C>A | CA384880405 | SCN8A | c.4867C>A (p.Arg1623Ser) c.2931C>A c.4744C>A (p.Arg1582Ser) c.4900C>A (p.Arg1634Ser) | |
12 | g.51806353C= | CA2036192818 | SCN8A | c.4867C= (p.Arg1623=) c.2931C= c.4744C= (p.Arg1582=) c.4900C= (p.Arg1634=) | |
12 | g.51806353C>G | CA384880406 | SCN8A | c.4867C>G (p.Arg1623Gly) c.2931C>G c.4744C>G (p.Arg1582Gly) c.4900C>G (p.Arg1634Gly) | |
12 | g.51806353C>T | CA236327337 | SCN8A | c.4867C>T (p.Arg1623Cys) c.2931C>T c.4744C>T (p.Arg1582Cys) c.4900C>T (p.Arg1634Cys) | ClinVar dbSNP |
12 | g.51806354G>A | CA384880409 | SCN8A | c.4868G>A (p.Arg1623His) c.2932G>A c.4745G>A (p.Arg1582His) c.4901G>A (p.Arg1634His) | |
12 | g.51806354G>C | CA384880408 | SCN8A | c.4868G>C (p.Arg1623Pro) c.2932G>C c.4745G>C (p.Arg1582Pro) c.4901G>C (p.Arg1634Pro) | |
12 | g.51806354G>T | CA384880407 | SCN8A | c.4868G>T (p.Arg1623Leu) c.2932G>T c.4745G>T (p.Arg1582Leu) c.4901G>T (p.Arg1634Leu) | |
12 | g.51806355T>A | CA479788066 | SCN8A | c.4869T>A (p.Arg1623=) c.2933T>A c.4746T>A (p.Arg1582=) c.4902T>A (p.Arg1634=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806355T>C | CA479788064 | SCN8A | c.4869T>C (p.Arg1623=) c.2933T>C c.4746T>C (p.Arg1582=) c.4902T>C (p.Arg1634=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806355T>G | CA479788063 | SCN8A | c.4869T>G (p.Arg1623=) c.2933T>G c.4746T>G (p.Arg1582=) c.4902T>G (p.Arg1634=) | |
12 | g.51806355T= | CA2036192822 | SCN8A | c.4869T= (p.Arg1623=) c.2933T= c.4746T= (p.Arg1582=) c.4902T= (p.Arg1634=) | |
12 | g.51806356A>C | CA384880410 | SCN8A | c.4870A>C (p.Ile1624Leu) c.2934A>C c.4747A>C (p.Ile1583Leu) c.4903A>C (p.Ile1635Leu) | |
12 | g.51806356A>G | CA384880411 | SCN8A | c.4870A>G (p.Ile1624Val) c.2934A>G c.4747A>G (p.Ile1583Val) c.4903A>G (p.Ile1635Val) | ClinVar dbSNP |
12 | g.51806356A>T | CA384880412 | SCN8A | c.4870A>T (p.Ile1624Phe) c.2934A>T c.4747A>T (p.Ile1583Phe) c.4903A>T (p.Ile1635Phe) | |
12 | g.51806357T>A | CA384880413 | SCN8A | c.4871T>A (p.Ile1624Asn) c.2935T>A c.4748T>A (p.Ile1583Asn) c.4904T>A (p.Ile1635Asn) | |
12 | g.51806357T>C | CA384880414 | SCN8A | c.4871T>C (p.Ile1624Thr) c.2935T>C c.4748T>C (p.Ile1583Thr) c.4904T>C (p.Ile1635Thr) | |
12 | g.51806357T>G | CA384880415 | SCN8A | c.4871T>G (p.Ile1624Ser) c.2935T>G c.4748T>G (p.Ile1583Ser) c.4904T>G (p.Ile1635Ser) | ClinVar |
12 | g.51806358T>A | CA479788071 | SCN8A | c.4872T>A (p.Ile1624=) c.2936T>A c.4749T>A (p.Ile1583=) c.4905T>A (p.Ile1635=) | |
12 | g.51806358T>C | CA479788073 | SCN8A | c.4872T>C (p.Ile1624=) c.2936T>C c.4749T>C (p.Ile1583=) c.4905T>C (p.Ile1635=) | |
12 | g.51806358T>G | CA384880416 | SCN8A | c.4872T>G (p.Ile1624Met) c.2936T>G c.4749T>G (p.Ile1583Met) c.4905T>G (p.Ile1635Met) | |
12 | g.51806359G>A | CA10586298 | SCN8A | c.4873G>A (p.Gly1625Arg) c.2937G>A c.4750G>A (p.Gly1584Arg) c.4906G>A (p.Gly1636Arg) | ClinVar dbSNP |
12 | g.51806359G>C | CA384880417 | SCN8A | c.4873G>C (p.Gly1625Arg) c.2937G>C c.4750G>C (p.Gly1584Arg) c.4906G>C (p.Gly1636Arg) | |
12 | g.51806359G= | CA2036192835 | SCN8A | c.4873G= (p.Gly1625=) c.2937G= c.4750G= (p.Gly1584=) c.4906G= (p.Gly1636=) | |
12 | g.51806359G>T | CA16606656 | SCN8A | c.4873G>T (p.Gly1625Trp) c.2937G>T c.4750G>T (p.Gly1584Trp) c.4906G>T (p.Gly1636Trp) | ClinVar dbSNP |
12 | g.51806359_51806367dup | CA2695216871 | SCN8A | c.4873_4881dup (p.Ile1627_Leu1628insGlyArgIle) c.2937_2945dup c.4750_4758dup (p.Ile1586_Leu1587insGlyArgIle) c.4906_4914dup (p.Ile1638_Leu1639insGlyArgIle) | |
12 | g.51806360G>A | CA384880418 | SCN8A | c.4874G>A (p.Gly1625Glu) c.2938G>A c.4751G>A (p.Gly1584Glu) c.4907G>A (p.Gly1636Glu) | |
12 | g.51806360G>C | CA384880419 | SCN8A | c.4874G>C (p.Gly1625Ala) c.2938G>C c.4751G>C (p.Gly1584Ala) c.4907G>C (p.Gly1636Ala) | |
12 | g.51806360G>T | CA384880420 | SCN8A | c.4874G>T (p.Gly1625Val) c.2938G>T c.4751G>T (p.Gly1584Val) c.4907G>T (p.Gly1636Val) | |
12 | g.51806361G>A | CA6571875 | SCN8A | c.4875G>A (p.Gly1625=) c.2939G>A c.4752G>A (p.Gly1584=) c.4908G>A (p.Gly1636=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806361G>C | CA479788080 | SCN8A | c.4875G>C (p.Gly1625=) c.2939G>C c.4752G>C (p.Gly1584=) c.4908G>C (p.Gly1636=) | |
12 | g.51806361G= | CA2036192843 | SCN8A | c.4875G= (p.Gly1625=) c.2939G= c.4752G= (p.Gly1584=) c.4908G= (p.Gly1636=) | |
12 | g.51806361G>T | CA479788082 | SCN8A | c.4875G>T (p.Gly1625=) c.2939G>T c.4752G>T (p.Gly1584=) c.4908G>T (p.Gly1636=) | |
12 | g.51806362C>A | CA384880421 | SCN8A | c.4876C>A (p.Arg1626Ser) c.2940C>A c.4753C>A (p.Arg1585Ser) c.4909C>A (p.Arg1637Ser) | gnomAD v4 |
12 | g.51806362C>G | CA384880422 | SCN8A | c.4876C>G (p.Arg1626Gly) c.2940C>G c.4753C>G (p.Arg1585Gly) c.4909C>G (p.Arg1637Gly) | |
12 | g.51806362C>T | CA384880423 | SCN8A | c.4876C>T (p.Arg1626Cys) c.2940C>T c.4753C>T (p.Arg1585Cys) c.4909C>T (p.Arg1637Cys) | ClinVar dbSNP |
12 | g.51806363G>A | CA10606625 | SCN8A | c.4877G>A (p.Arg1626His) c.2941G>A c.4754G>A (p.Arg1585His) c.4910G>A (p.Arg1637His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.51806363G>C | CA384880424 | SCN8A | c.4877G>C (p.Arg1626Pro) c.2941G>C c.4754G>C (p.Arg1585Pro) c.4910G>C (p.Arg1637Pro) | |
12 | g.51806363G= | CA2036192853 | SCN8A | c.4877G= (p.Arg1626=) c.2941G= c.4754G= (p.Arg1585=) c.4910G= (p.Arg1637=) | |
12 | g.51806363G>T | CA384880425 | SCN8A | c.4877G>T (p.Arg1626Leu) c.2941G>T c.4754G>T (p.Arg1585Leu) c.4910G>T (p.Arg1637Leu) | ClinVar dbSNP |
12 | g.51806364C>A | CA479788087 | SCN8A | c.4878C>A (p.Arg1626=) c.2942C>A c.4755C>A (p.Arg1585=) c.4911C>A (p.Arg1637=) | |
12 | g.51806364C>G | CA479788088 | SCN8A | c.4878C>G (p.Arg1626=) c.2942C>G c.4755C>G (p.Arg1585=) c.4911C>G (p.Arg1637=) | |
12 | g.51806364C>T | CA479788089 | SCN8A | c.4878C>T (p.Arg1626=) c.2942C>T c.4755C>T (p.Arg1585=) c.4911C>T (p.Arg1637=) | |
12 | g.51806365A= | CA2036192866 | SCN8A | c.4879A= (p.Ile1627=) c.2943A= c.4756A= (p.Ile1586=) c.4912A= (p.Ile1638=) | |
12 | g.51806365A>C | CA384880426 | SCN8A | c.4879A>C (p.Ile1627Leu) c.2943A>C c.4756A>C (p.Ile1586Leu) c.4912A>C (p.Ile1638Leu) | ClinVar dbSNP |
12 | g.51806365A>G | CA384880427 | SCN8A | c.4879A>G (p.Ile1627Val) c.2943A>G c.4756A>G (p.Ile1586Val) c.4912A>G (p.Ile1638Val) | |
12 | g.51806365A>T | CA384880428 | SCN8A | c.4879A>T (p.Ile1627Phe) c.2943A>T c.4756A>T (p.Ile1586Phe) c.4912A>T (p.Ile1638Phe) | |
12 | g.51806366T>A | CA384880429 | SCN8A | c.4880T>A (p.Ile1627Asn) c.2944T>A c.4757T>A (p.Ile1586Asn) c.4913T>A (p.Ile1638Asn) | ClinVar dbSNP |
12 | g.51806366T>C | CA384880430 | SCN8A | c.4880T>C (p.Ile1627Thr) c.2944T>C c.4757T>C (p.Ile1586Thr) c.4913T>C (p.Ile1638Thr) | ClinVar |
12 | g.51806366T>G | CA384880431 | SCN8A | c.4880T>G (p.Ile1627Ser) c.2944T>G c.4757T>G (p.Ile1586Ser) c.4913T>G (p.Ile1638Ser) | |
12 | g.51806366T= | CA2036192873 | SCN8A | c.4880T= (p.Ile1627=) c.2944T= c.4757T= (p.Ile1586=) c.4913T= (p.Ile1638=) | |
12 | g.51806367C>A | CA479788090 | SCN8A | c.4881C>A (p.Ile1627=) c.2945C>A c.4758C>A (p.Ile1586=) c.4914C>A (p.Ile1638=) | |
12 | g.51806367C= | CA2036192879 | SCN8A | c.4881C= (p.Ile1627=) c.2945C= c.4758C= (p.Ile1586=) c.4914C= (p.Ile1638=) | |
12 | g.51806367C>G | CA384880432 | SCN8A | c.4881C>G (p.Ile1627Met) c.2945C>G c.4758C>G (p.Ile1586Met) c.4914C>G (p.Ile1638Met) | |
12 | g.51806367C>T | CA479788093 | SCN8A | c.4881C>T (p.Ile1627=) c.2945C>T c.4758C>T (p.Ile1586=) c.4914C>T (p.Ile1638=) | dbSNP |
12 | g.51806368T>A | CA384880434 | SCN8A | c.4882T>A (p.Leu1628Met) c.2946T>A c.4759T>A (p.Leu1587Met) c.4915T>A (p.Leu1639Met) | |
12 | g.51806368T>C | CA479788094 | SCN8A | c.4882T>C (p.Leu1628=) c.2946T>C c.4759T>C (p.Leu1587=) c.4915T>C (p.Leu1639=) | |
12 | g.51806368T>G | CA384880433 | SCN8A | c.4882T>G (p.Leu1628Val) c.2946T>G c.4759T>G (p.Leu1587Val) c.4915T>G (p.Leu1639Val) | |
12 | g.51806369T>A | CA384880435 | SCN8A | c.4883T>A (p.Leu1628Ter) c.2947T>A c.4760T>A (p.Leu1587Ter) c.4916T>A (p.Leu1639Ter) | dbSNP |
12 | g.51806369T>C | CA384880437 | SCN8A | c.4883T>C (p.Leu1628Ser) c.2947T>C c.4760T>C (p.Leu1587Ser) c.4916T>C (p.Leu1639Ser) | ClinVar dbSNP |
12 | g.51806369T>G | CA384880436 | SCN8A | c.4883T>G (p.Leu1628Trp) c.2947T>G c.4760T>G (p.Leu1587Trp) c.4916T>G (p.Leu1639Trp) | ClinVar dbSNP |
12 | g.51806369T= | CA2036192891 | SCN8A | c.4883T= (p.Leu1628=) c.2947T= c.4760T= (p.Leu1587=) c.4916T= (p.Leu1639=) | |
12 | g.51806370G>A | CA6571876 | SCN8A | c.4884G>A (p.Leu1628=) c.2948G>A c.4761G>A (p.Leu1587=) c.4917G>A (p.Leu1639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806370G>C | CA384880438 | SCN8A | c.4884G>C (p.Leu1628Phe) c.2948G>C c.4761G>C (p.Leu1587Phe) c.4917G>C (p.Leu1639Phe) | |
12 | g.51806370G= | CA2036192902 | SCN8A | c.4884G= (p.Leu1628=) c.2948G= c.4761G= (p.Leu1587=) c.4917G= (p.Leu1639=) | |
12 | g.51806370G>T | CA384880439 | SCN8A | c.4884G>T (p.Leu1628Phe) c.2948G>T c.4761G>T (p.Leu1587Phe) c.4917G>T (p.Leu1639Phe) | |
12 | g.51806371C>A | CA384880440 | SCN8A | c.4885C>A (p.Arg1629Ser) c.2949C>A c.4762C>A (p.Arg1588Ser) c.4918C>A (p.Arg1640Ser) | |
12 | g.51806371C= | CA2036192915 | SCN8A | c.4885C= (p.Arg1629=) c.2949C= c.4762C= (p.Arg1588=) c.4918C= (p.Arg1640=) | |
12 | g.51806371C>G | CA384880441 | SCN8A | c.4885C>G (p.Arg1629Gly) c.2949C>G c.4762C>G (p.Arg1588Gly) c.4918C>G (p.Arg1640Gly) | |
12 | g.51806371C>T | CA384880442 | SCN8A | c.4885C>T (p.Arg1629Cys) c.2949C>T c.4762C>T (p.Arg1588Cys) c.4918C>T (p.Arg1640Cys) | ClinVar dbSNP gnomAD v4 |
12 | g.51806372G>A | CA6571877 | SCN8A | c.4886G>A (p.Arg1629His) c.2950G>A c.4763G>A (p.Arg1588His) c.4919G>A (p.Arg1640His) | ClinVar dbSNP ExAC |
12 | g.51806372G>C | CA384880443 | SCN8A | c.4886G>C (p.Arg1629Pro) c.2950G>C c.4763G>C (p.Arg1588Pro) c.4919G>C (p.Arg1640Pro) | ClinVar |
12 | g.51806372G= | CA2036192922 | SCN8A | c.4886G= (p.Arg1629=) c.2950G= c.4763G= (p.Arg1588=) c.4919G= (p.Arg1640=) | |
12 | g.51806372G>T | CA384880444 | SCN8A | c.4886G>T (p.Arg1629Leu) c.2950G>T c.4763G>T (p.Arg1588Leu) c.4919G>T (p.Arg1640Leu) | |
12 | g.51806373T>A | CA479788100 | SCN8A | c.4887T>A (p.Arg1629=) c.2951T>A c.4764T>A (p.Arg1588=) c.4920T>A (p.Arg1640=) | |
12 | g.51806373T>C | CA479788101 | SCN8A | c.4887T>C (p.Arg1629=) c.2951T>C c.4764T>C (p.Arg1588=) c.4920T>C (p.Arg1640=) | |
12 | g.51806373T>G | CA6571878 | SCN8A | c.4887T>G (p.Arg1629=) c.2951T>G c.4764T>G (p.Arg1588=) c.4920T>G (p.Arg1640=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806373T= | CA2036192932 | SCN8A | c.4887T= (p.Arg1629=) c.2951T= c.4764T= (p.Arg1588=) c.4920T= (p.Arg1640=) | |
12 | g.51806374C>A | CA384880445 | SCN8A | c.4888C>A (p.Leu1630Met) c.2952C>A c.4765C>A (p.Leu1589Met) c.4921C>A (p.Leu1641Met) | |
12 | g.51806374C>G | CA384880446 | SCN8A | c.4888C>G (p.Leu1630Val) c.2952C>G c.4765C>G (p.Leu1589Val) c.4921C>G (p.Leu1641Val) | |
12 | g.51806374C>T | CA479788102 | SCN8A | c.4888C>T (p.Leu1630=) c.2952C>T c.4765C>T (p.Leu1589=) c.4921C>T (p.Leu1641=) | |
12 | g.51806375T>A | CA384880447 | SCN8A | c.4889T>A (p.Leu1630Gln) c.2953T>A c.4766T>A (p.Leu1589Gln) c.4922T>A (p.Leu1641Gln) | |
12 | g.51806375T>C | CA318288 | SCN8A | c.4889T>C (p.Leu1630Pro) c.2953T>C c.4766T>C (p.Leu1589Pro) c.4922T>C (p.Leu1641Pro) | ClinVar dbSNP |
12 | g.51806375T>G | CA384880448 | SCN8A | c.4889T>G (p.Leu1630Arg) c.2953T>G c.4766T>G (p.Leu1589Arg) c.4922T>G (p.Leu1641Arg) | |
12 | g.51806375T= | CA2036192935 | SCN8A | c.4889T= (p.Leu1630=) c.2953T= c.4766T= (p.Leu1589=) c.4922T= (p.Leu1641=) | |
12 | g.51806376G>A | CA479788105 | SCN8A | c.4890G>A (p.Leu1630=) c.2954G>A c.4767G>A (p.Leu1589=) c.4923G>A (p.Leu1641=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806376G>C | CA479788106 | SCN8A | c.4890G>C (p.Leu1630=) c.2954G>C c.4767G>C (p.Leu1589=) c.4923G>C (p.Leu1641=) | |
12 | g.51806376G= | CA2036192939 | SCN8A | c.4890G= (p.Leu1630=) c.2954G= c.4767G= (p.Leu1589=) c.4923G= (p.Leu1641=) | |
12 | g.51806376G>T | CA479788104 | SCN8A | c.4890G>T (p.Leu1630=) c.2954G>T c.4767G>T (p.Leu1589=) c.4923G>T (p.Leu1641=) | |
12 | g.51806377A>C | CA384880449 | SCN8A | c.4891A>C (p.Ile1631Leu) c.2955A>C c.4768A>C (p.Ile1590Leu) c.4924A>C (p.Ile1642Leu) | |
12 | g.51806377A>G | CA384880450 | SCN8A | c.4891A>G (p.Ile1631Val) c.2955A>G c.4768A>G (p.Ile1590Val) c.4924A>G (p.Ile1642Val) | |
12 | g.51806377A>T | CA384880451 | SCN8A | c.4891A>T (p.Ile1631Phe) c.2955A>T c.4768A>T (p.Ile1590Phe) c.4924A>T (p.Ile1642Phe) | |
12 | g.51806378T>A | CA384880452 | SCN8A | c.4892T>A (p.Ile1631Asn) c.2956T>A c.4769T>A (p.Ile1590Asn) c.4925T>A (p.Ile1642Asn) | ClinVar dbSNP |
12 | g.51806378T>C | CA384880453 | SCN8A | c.4892T>C (p.Ile1631Thr) c.2956T>C c.4769T>C (p.Ile1590Thr) c.4925T>C (p.Ile1642Thr) | ClinVar dbSNP |
12 | g.51806378T>G | CA384880454 | SCN8A | c.4892T>G (p.Ile1631Ser) c.2956T>G c.4769T>G (p.Ile1590Ser) c.4925T>G (p.Ile1642Ser) | |
12 | g.51806378T= | CA2036192947 | SCN8A | c.4892T= (p.Ile1631=) c.2956T= c.4769T= (p.Ile1590=) c.4925T= (p.Ile1642=) | |
12 | g.51806379C>A | CA479788112 | SCN8A | c.4893C>A (p.Ile1631=) c.2957C>A c.4770C>A (p.Ile1590=) c.4926C>A (p.Ile1642=) | |
12 | g.51806379C>G | CA384880455 | SCN8A | c.4893C>G (p.Ile1631Met) c.2957C>G c.4770C>G (p.Ile1590Met) c.4926C>G (p.Ile1642Met) | COSMIC COSMIC |
12 | g.51806379C>T | CA479788111 | SCN8A | c.4893C>T (p.Ile1631=) c.2957C>T c.4770C>T (p.Ile1590=) c.4926C>T (p.Ile1642=) | gnomAD v4 |
12 | g.51806380A= | CA2036192963 | SCN8A | c.4894A= (p.Lys1632=) c.2958A= c.4771A= (p.Lys1591=) c.4927A= (p.Lys1643=) | |
12 | g.51806380A>C | CA384880456 | SCN8A | c.4894A>C (p.Lys1632Gln) c.2958A>C c.4771A>C (p.Lys1591Gln) c.4927A>C (p.Lys1643Gln) | |
12 | g.51806380A>G | CA384880457 | SCN8A | c.4894A>G (p.Lys1632Glu) c.2958A>G c.4771A>G (p.Lys1591Glu) c.4927A>G (p.Lys1643Glu) | |
12 | g.51806380A>T | CA384880458 | SCN8A | c.4894A>T (p.Lys1632Ter) c.2958A>T c.4771A>T (p.Lys1591Ter) c.4927A>T (p.Lys1643Ter) | dbSNP |
12 | g.51806381A>C | CA384880460 | SCN8A | c.4895A>C (p.Lys1632Thr) c.2959A>C c.4772A>C (p.Lys1591Thr) c.4928A>C (p.Lys1643Thr) | |
12 | g.51806381A>G | CA384880461 | SCN8A | c.4895A>G (p.Lys1632Arg) c.2959A>G c.4772A>G (p.Lys1591Arg) c.4928A>G (p.Lys1643Arg) | gnomAD v4 |
12 | g.51806381A>T | CA384880459 | SCN8A | c.4895A>T (p.Lys1632Ile) c.2959A>T c.4772A>T (p.Lys1591Ile) c.4928A>T (p.Lys1643Ile) | |
12 | g.51806382A>C | CA384880462 | SCN8A | c.4896A>C (p.Lys1632Asn) c.2960A>C c.4773A>C (p.Lys1591Asn) c.4929A>C (p.Lys1643Asn) | |
12 | g.51806382A>G | CA479788114 | SCN8A | c.4896A>G (p.Lys1632=) c.2960A>G c.4773A>G (p.Lys1591=) c.4929A>G (p.Lys1643=) | |
12 | g.51806382A>T | CA384880463 | SCN8A | c.4896A>T (p.Lys1632Asn) c.2960A>T c.4773A>T (p.Lys1591Asn) c.4929A>T (p.Lys1643Asn) | ClinVar |
12 | g.51806383G>A | CA384880464 | SCN8A | c.4897G>A (p.Gly1633Ser) c.2961G>A c.4774G>A (p.Gly1592Ser) c.4930G>A (p.Gly1644Ser) | |
12 | g.51806383G>C | CA384880465 | SCN8A | c.4897G>C (p.Gly1633Arg) c.2961G>C c.4774G>C (p.Gly1592Arg) c.4930G>C (p.Gly1644Arg) | |
12 | g.51806383G>T | CA384880466 | SCN8A | c.4897G>T (p.Gly1633Cys) c.2961G>T c.4774G>T (p.Gly1592Cys) c.4930G>T (p.Gly1644Cys) | |
12 | g.51806384G>A | CA384880467 | SCN8A | c.4898G>A (p.Gly1633Asp) c.2962G>A c.4775G>A (p.Gly1592Asp) c.4931G>A (p.Gly1644Asp) | |
12 | g.51806384G>C | CA384880468 | SCN8A | c.4898G>C (p.Gly1633Ala) c.2962G>C c.4775G>C (p.Gly1592Ala) c.4931G>C (p.Gly1644Ala) | |
12 | g.51806384G>T | CA384880469 | SCN8A | c.4898G>T (p.Gly1633Val) c.2962G>T c.4775G>T (p.Gly1592Val) c.4931G>T (p.Gly1644Val) | |
12 | g.51806385C>A | CA479788119 | SCN8A | c.4899C>A (p.Gly1633=) c.2963C>A c.4776C>A (p.Gly1592=) c.4932C>A (p.Gly1644=) | |
12 | g.51806385C= | CA2036192980 | SCN8A | c.4899C= (p.Gly1633=) c.2963C= c.4776C= (p.Gly1592=) c.4932C= (p.Gly1644=) | |
12 | g.51806385C>G | CA479788121 | SCN8A | c.4899C>G (p.Gly1633=) c.2963C>G c.4776C>G (p.Gly1592=) c.4932C>G (p.Gly1644=) | |
12 | g.51806385C>T | CA6571879 | SCN8A | c.4899C>T (p.Gly1633=) c.2963C>T c.4776C>T (p.Gly1592=) c.4932C>T (p.Gly1644=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806386G>A | CA236327392 | SCN8A | c.4900G>A (p.Ala1634Thr) c.2964G>A c.4777G>A (p.Ala1593Thr) c.4933G>A (p.Ala1645Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.51806386G>C | CA384880470 | SCN8A | c.4900G>C (p.Ala1634Pro) c.2964G>C c.4777G>C (p.Ala1593Pro) c.4933G>C (p.Ala1645Pro) | |
12 | g.51806386G= | CA2036192988 | SCN8A | c.4900G= (p.Ala1634=) c.2964G= c.4777G= (p.Ala1593=) c.4933G= (p.Ala1645=) | |
12 | g.51806386G>T | CA384880471 | SCN8A | c.4900G>T (p.Ala1634Ser) c.2964G>T c.4777G>T (p.Ala1593Ser) c.4933G>T (p.Ala1645Ser) | |
12 | g.51806387C>A | CA384880473 | SCN8A | c.4901C>A (p.Ala1634Asp) c.2965C>A c.4778C>A (p.Ala1593Asp) c.4934C>A (p.Ala1645Asp) | |
12 | g.51806387C>G | CA384880474 | SCN8A | c.4901C>G (p.Ala1634Gly) c.2965C>G c.4778C>G (p.Ala1593Gly) c.4934C>G (p.Ala1645Gly) | |
12 | g.51806387C>T | CA384880472 | SCN8A | c.4901C>T (p.Ala1634Val) c.2965C>T c.4778C>T (p.Ala1593Val) c.4934C>T (p.Ala1645Val) | COSMIC COSMIC |
12 | g.51806388del | CA2512898859 | SCN8A | c.4902del (p.Ile1637PhefsTer8) c.2966del c.4779del (p.Ile1596PhefsTer8) c.4935del (p.Ile1648PhefsTer8) | |
12 | g.51806388C>A | CA479788122 | SCN8A | c.4902C>A (p.Ala1634=) c.2966C>A c.4779C>A (p.Ala1593=) c.4935C>A (p.Ala1645=) | |
12 | g.51806388C>G | CA479788123 | SCN8A | c.4902C>G (p.Ala1634=) c.2966C>G c.4779C>G (p.Ala1593=) c.4935C>G (p.Ala1645=) | |
12 | g.51806388C>T | CA479788124 | SCN8A | c.4902C>T (p.Ala1634=) c.2966C>T c.4779C>T (p.Ala1593=) c.4935C>T (p.Ala1645=) | |
12 | g.51806389A= | CA2036192993 | SCN8A | c.4903A= (p.Lys1635=) c.2967A= c.4780A= (p.Lys1594=) c.4936A= (p.Lys1646=) | |
12 | g.51806389A>C | CA384880475 | SCN8A | c.4903A>C (p.Lys1635Gln) c.2967A>C c.4780A>C (p.Lys1594Gln) c.4936A>C (p.Lys1646Gln) | |
12 | g.51806389A>G | CA384880476 | SCN8A | c.4903A>G (p.Lys1635Glu) c.2967A>G c.4780A>G (p.Lys1594Glu) c.4936A>G (p.Lys1646Glu) | |
12 | g.51806389A>T | CA384880477 | SCN8A | c.4903A>T (p.Lys1635Ter) c.2967A>T c.4780A>T (p.Lys1594Ter) c.4936A>T (p.Lys1646Ter) | dbSNP |
12 | g.51806390A>C | CA384880478 | SCN8A | c.4904A>C (p.Lys1635Thr) c.2968A>C c.4781A>C (p.Lys1594Thr) c.4937A>C (p.Lys1646Thr) | |
12 | g.51806390A>G | CA384880479 | SCN8A | c.4904A>G (p.Lys1635Arg) c.2968A>G c.4781A>G (p.Lys1594Arg) c.4937A>G (p.Lys1646Arg) | |
12 | g.51806390A>T | CA384880480 | SCN8A | c.4904A>T (p.Lys1635Ile) c.2968A>T c.4781A>T (p.Lys1594Ile) c.4937A>T (p.Lys1646Ile) | |
12 | g.51806391A>C | CA384880482 | SCN8A | c.4905A>C (p.Lys1635Asn) c.2969A>C c.4782A>C (p.Lys1594Asn) c.4938A>C (p.Lys1646Asn) | |
12 | g.51806391A>G | CA479788127 | SCN8A | c.4905A>G (p.Lys1635=) c.2969A>G c.4782A>G (p.Lys1594=) c.4938A>G (p.Lys1646=) | |
12 | g.51806391A>T | CA384880481 | SCN8A | c.4905A>T (p.Lys1635Asn) c.2969A>T c.4782A>T (p.Lys1594Asn) c.4938A>T (p.Lys1646Asn) | |
12 | g.51806392G>A | CA384880483 | SCN8A | c.4906G>A (p.Gly1636Arg) c.2970G>A c.4783G>A (p.Gly1595Arg) c.4939G>A (p.Gly1647Arg) | |
12 | g.51806392G>C | CA384880484 | SCN8A | c.4906G>C (p.Gly1636Arg) c.2970G>C c.4783G>C (p.Gly1595Arg) c.4939G>C (p.Gly1647Arg) | |
12 | g.51806392G>T | CA384880485 | SCN8A | c.4906G>T (p.Gly1636Trp) c.2970G>T c.4783G>T (p.Gly1595Trp) c.4939G>T (p.Gly1647Trp) | |
12 | g.51806393G>A | CA384880486 | SCN8A | c.4907G>A (p.Gly1636Glu) c.2971G>A c.4784G>A (p.Gly1595Glu) c.4940G>A (p.Gly1647Glu) | |
12 | g.51806393G>C | CA384880487 | SCN8A | c.4907G>C (p.Gly1636Ala) c.2971G>C c.4784G>C (p.Gly1595Ala) c.4940G>C (p.Gly1647Ala) | |
12 | g.51806393G>T | CA384880488 | SCN8A | c.4907G>T (p.Gly1636Val) c.2971G>T c.4784G>T (p.Gly1595Val) c.4940G>T (p.Gly1647Val) | |
12 | g.51806394G>A | CA479788130 | SCN8A | c.4908G>A (p.Gly1636=) c.2972G>A c.4785G>A (p.Gly1595=) c.4941G>A (p.Gly1647=) | |
12 | g.51806394G>C | CA479788131 | SCN8A | c.4908G>C (p.Gly1636=) c.2972G>C c.4785G>C (p.Gly1595=) c.4941G>C (p.Gly1647=) | |
12 | g.51806394G>T | CA479788132 | SCN8A | c.4908G>T (p.Gly1636=) c.2972G>T c.4785G>T (p.Gly1595=) c.4941G>T (p.Gly1647=) | gnomAD v4 |
12 | g.51806395A>C | CA384880489 | SCN8A | c.4909A>C (p.Ile1637Leu) c.2973A>C c.4786A>C (p.Ile1596Leu) c.4942A>C (p.Ile1648Leu) | |
12 | g.51806395A>G | CA384880491 | SCN8A | c.4909A>G (p.Ile1637Val) c.2973A>G c.4786A>G (p.Ile1596Val) c.4942A>G (p.Ile1648Val) | |
12 | g.51806395A>T | CA384880490 | SCN8A | c.4909A>T (p.Ile1637Phe) c.2973A>T c.4786A>T (p.Ile1596Phe) c.4942A>T (p.Ile1648Phe) | |
12 | g.51806395dup | CA2540407650 | SCN8A | c.4909dup (p.Ile1637AsnfsTer?) c.2973dup c.4786dup (p.Ile1596AsnfsTer?) c.4942dup (p.Ile1648AsnfsTer?) | |
12 | g.51806396T>A | CA384880492 | SCN8A | c.4910T>A (p.Ile1637Asn) c.2974T>A c.4787T>A (p.Ile1596Asn) c.4943T>A (p.Ile1648Asn) | |
12 | g.51806396T>C | CA384880494 | SCN8A | c.4910T>C (p.Ile1637Thr) c.2974T>C c.4787T>C (p.Ile1596Thr) c.4943T>C (p.Ile1648Thr) | |
12 | g.51806396T>G | CA384880493 | SCN8A | c.4910T>G (p.Ile1637Ser) c.2974T>G c.4787T>G (p.Ile1596Ser) c.4943T>G (p.Ile1648Ser) | |
12 | g.51806397T>A | CA479788140 | SCN8A | c.4911T>A (p.Ile1637=) c.2975T>A c.4788T>A (p.Ile1596=) c.4944T>A (p.Ile1648=) | |
12 | g.51806397T>C | CA479788139 | SCN8A | c.4911T>C (p.Ile1637=) c.2975T>C c.4788T>C (p.Ile1596=) c.4944T>C (p.Ile1648=) | |
12 | g.51806397T>G | CA384880496 | SCN8A | c.4911T>G (p.Ile1637Met) c.2975T>G c.4788T>G (p.Ile1596Met) c.4944T>G (p.Ile1648Met) | ClinVar dbSNP |
12 | g.51806398C>A | CA384880500 | SCN8A | c.4912C>A (p.Arg1638Ser) c.2976C>A c.4789C>A (p.Arg1597Ser) c.4945C>A (p.Arg1649Ser) | |
12 | g.51806398C= | CA2036193000 | SCN8A | c.4912C= (p.Arg1638=) c.2976C= c.4789C= (p.Arg1597=) c.4945C= (p.Arg1649=) | |
12 | g.51806398C>G | CA384880499 | SCN8A | c.4912C>G (p.Arg1638Gly) c.2976C>G c.4789C>G (p.Arg1597Gly) c.4945C>G (p.Arg1649Gly) | |
12 | g.51806398C>T | CA384880501 | SCN8A | c.4912C>T (p.Arg1638Cys) c.2976C>T c.4789C>T (p.Arg1597Cys) c.4945C>T (p.Arg1649Cys) | ClinVar dbSNP |
12 | g.51806399G>A | CA16619564 | SCN8A | c.4913G>A (p.Arg1638His) c.2977G>A c.4790G>A (p.Arg1597His) c.4946G>A (p.Arg1649His) | ClinVar dbSNP |
12 | g.51806399G>C | CA384880502 | SCN8A | c.4913G>C (p.Arg1638Pro) c.2977G>C c.4790G>C (p.Arg1597Pro) c.4946G>C (p.Arg1649Pro) | |
12 | g.51806399G= | CA2036193011 | SCN8A | c.4913G= (p.Arg1638=) c.2977G= c.4790G= (p.Arg1597=) c.4946G= (p.Arg1649=) | |
12 | g.51806399G>T | CA384880503 | SCN8A | c.4913G>T (p.Arg1638Leu) c.2977G>T c.4790G>T (p.Arg1597Leu) c.4946G>T (p.Arg1649Leu) | |
12 | g.51806400T>A | CA479788144 | SCN8A | c.4914T>A (p.Arg1638=) c.2978T>A c.4791T>A (p.Arg1597=) c.4947T>A (p.Arg1649=) | |
12 | g.51806400T>C | CA479788145 | SCN8A | c.4914T>C (p.Arg1638=) c.2978T>C c.4791T>C (p.Arg1597=) c.4947T>C (p.Arg1649=) | |
12 | g.51806400T>G | CA479788146 | SCN8A | c.4914T>G (p.Arg1638=) c.2978T>G c.4791T>G (p.Arg1597=) c.4947T>G (p.Arg1649=) | |
12 | g.51806401A>C | CA384880504 | SCN8A | c.4915A>C (p.Thr1639Pro) c.2979A>C c.4792A>C (p.Thr1598Pro) c.4948A>C (p.Thr1650Pro) | |
12 | g.51806401A>G | CA384880505 | SCN8A | c.4915A>G (p.Thr1639Ala) c.2979A>G c.4792A>G (p.Thr1598Ala) c.4948A>G (p.Thr1650Ala) | |
12 | g.51806401A>T | CA384880506 | SCN8A | c.4915A>T (p.Thr1639Ser) c.2979A>T c.4792A>T (p.Thr1598Ser) c.4948A>T (p.Thr1650Ser) | |
12 | g.51806402C>A | CA384880507 | SCN8A | c.4916C>A (p.Thr1639Asn) c.2980C>A c.4793C>A (p.Thr1598Asn) c.4949C>A (p.Thr1650Asn) | |
12 | g.51806402C>G | CA384880508 | SCN8A | c.4916C>G (p.Thr1639Ser) c.2980C>G c.4793C>G (p.Thr1598Ser) c.4949C>G (p.Thr1650Ser) | ClinVar |
12 | g.51806402C>T | CA384880509 | SCN8A | c.4916C>T (p.Thr1639Ile) c.2980C>T c.4793C>T (p.Thr1598Ile) c.4949C>T (p.Thr1650Ile) | ClinVar dbSNP |
12 | g.51806403C>A | CA479788151 | SCN8A | c.4917C>A (p.Thr1639=) c.2981C>A c.4794C>A (p.Thr1598=) c.4950C>A (p.Thr1650=) | |
12 | g.51806403C>G | CA479788149 | SCN8A | c.4917C>G (p.Thr1639=) c.2981C>G c.4794C>G (p.Thr1598=) c.4950C>G (p.Thr1650=) | |
12 | g.51806403C>T | CA479788150 | SCN8A | c.4917C>T (p.Thr1639=) c.2981C>T c.4794C>T (p.Thr1598=) c.4950C>T (p.Thr1650=) | |
12 | g.51806404C>A | CA384880510 | SCN8A | c.4918C>A (p.Leu1640Met) c.2982C>A c.4795C>A (p.Leu1599Met) c.4951C>A (p.Leu1651Met) | |
12 | g.51806404C>G | CA384880511 | SCN8A | c.4918C>G (p.Leu1640Val) c.2982C>G c.4795C>G (p.Leu1599Val) c.4951C>G (p.Leu1651Val) | |
12 | g.51806404C>T | CA479788152 | SCN8A | c.4918C>T (p.Leu1640=) c.2982C>T c.4795C>T (p.Leu1599=) c.4951C>T (p.Leu1651=) | |
12 | g.51806405T>A | CA384880514 | SCN8A | c.4919T>A (p.Leu1640Gln) c.2983T>A c.4796T>A (p.Leu1599Gln) c.4952T>A (p.Leu1651Gln) | |
12 | g.51806405T>C | CA384880513 | SCN8A | c.4919T>C (p.Leu1640Pro) c.2983T>C c.4796T>C (p.Leu1599Pro) c.4952T>C (p.Leu1651Pro) | |
12 | g.51806405T>G | CA384880512 | SCN8A | c.4919T>G (p.Leu1640Arg) c.2983T>G c.4796T>G (p.Leu1599Arg) c.4952T>G (p.Leu1651Arg) | |
12 | g.51806406G>A | CA479788156 | SCN8A | c.4920G>A (p.Leu1640=) c.2984G>A c.4797G>A (p.Leu1599=) c.4953G>A (p.Leu1651=) | |
12 | g.51806406G>C | CA479788157 | SCN8A | c.4920G>C (p.Leu1640=) c.2984G>C c.4797G>C (p.Leu1599=) c.4953G>C (p.Leu1651=) | |
12 | g.51806406G>T | CA479788158 | SCN8A | c.4920G>T (p.Leu1640=) c.2984G>T c.4797G>T (p.Leu1599=) c.4953G>T (p.Leu1651=) | |
12 | g.51806407C>A | CA384880515 | SCN8A | c.4921C>A (p.Leu1641Ile) c.2985C>A c.4798C>A (p.Leu1600Ile) c.4954C>A (p.Leu1652Ile) | |
12 | g.51806407C>G | CA384880516 | SCN8A | c.4921C>G (p.Leu1641Val) c.2985C>G c.4798C>G (p.Leu1600Val) c.4954C>G (p.Leu1652Val) | |
12 | g.51806407C>T | CA384880517 | SCN8A | c.4921C>T (p.Leu1641Phe) c.2985C>T c.4798C>T (p.Leu1600Phe) c.4954C>T (p.Leu1652Phe) | |
12 | g.51806408T>A | CA384880518 | SCN8A | c.4922T>A (p.Leu1641His) c.2986T>A c.4799T>A (p.Leu1600His) c.4955T>A (p.Leu1652His) | |
12 | g.51806408T>C | CA384880519 | SCN8A | c.4922T>C (p.Leu1641Pro) c.2986T>C c.4799T>C (p.Leu1600Pro) c.4955T>C (p.Leu1652Pro) | |
12 | g.51806408T>G | CA384880520 | SCN8A | c.4922T>G (p.Leu1641Arg) c.2986T>G c.4799T>G (p.Leu1600Arg) c.4955T>G (p.Leu1652Arg) | ClinVar dbSNP |
12 | g.51806408T= | CA2036193015 | SCN8A | c.4922T= (p.Leu1641=) c.2986T= c.4799T= (p.Leu1600=) c.4955T= (p.Leu1652=) | |
12 | g.51806409C>A | CA479788161 | SCN8A | c.4923C>A (p.Leu1641=) c.2987C>A c.4800C>A (p.Leu1600=) c.4956C>A (p.Leu1652=) | |
12 | g.51806409C= | CA2036193018 | SCN8A | c.4923C= (p.Leu1641=) c.2987C= c.4800C= (p.Leu1600=) c.4956C= (p.Leu1652=) | |
12 | g.51806409C>G | CA6571880 | SCN8A | c.4923C>G (p.Leu1641=) c.2987C>G c.4800C>G (p.Leu1600=) c.4956C>G (p.Leu1652=) | dbSNP ExAC gnomAD v2 |
12 | g.51806409C>T | CA479788160 | SCN8A | c.4923C>T (p.Leu1641=) c.2987C>T c.4800C>T (p.Leu1600=) c.4956C>T (p.Leu1652=) | |
12 | g.51806410T>A | CA384880521 | SCN8A | c.4924T>A (p.Phe1642Ile) c.2988T>A c.4801T>A (p.Phe1601Ile) c.4957T>A (p.Phe1653Ile) | |
12 | g.51806410T>C | CA384880522 | SCN8A | c.4924T>C (p.Phe1642Leu) c.2988T>C c.4801T>C (p.Phe1601Leu) c.4957T>C (p.Phe1653Leu) | ClinVar dbSNP |
12 | g.51806410T>G | CA384880523 | SCN8A | c.4924T>G (p.Phe1642Val) c.2988T>G c.4801T>G (p.Phe1601Val) c.4957T>G (p.Phe1653Val) | |
12 | g.51806410T= | CA2036193024 | SCN8A | c.4924T= (p.Phe1642=) c.2988T= c.4801T= (p.Phe1601=) c.4957T= (p.Phe1653=) | |
12 | g.51806411T>A | CA384880525 | SCN8A | c.4925T>A (p.Phe1642Tyr) c.2989T>A c.4802T>A (p.Phe1601Tyr) c.4958T>A (p.Phe1653Tyr) | |
12 | g.51806411T>C | CA384880527 | SCN8A | c.4925T>C (p.Phe1642Ser) c.2989T>C c.4802T>C (p.Phe1601Ser) c.4958T>C (p.Phe1653Ser) | |
12 | g.51806411T>G | CA384880529 | SCN8A | c.4925T>G (p.Phe1642Cys) c.2989T>G c.4802T>G (p.Phe1601Cys) c.4958T>G (p.Phe1653Cys) | |
12 | g.51806412T>A | CA384880533 | SCN8A | c.4926T>A (p.Phe1642Leu) c.2990T>A c.4803T>A (p.Phe1601Leu) c.4959T>A (p.Phe1653Leu) | |
12 | g.51806412T>C | CA479788162 | SCN8A | c.4926T>C (p.Phe1642=) c.2990T>C c.4803T>C (p.Phe1601=) c.4959T>C (p.Phe1653=) | |
12 | g.51806412T>G | CA384880534 | SCN8A | c.4926T>G (p.Phe1642Leu) c.2990T>G c.4803T>G (p.Phe1601Leu) c.4959T>G (p.Phe1653Leu) | |
12 | g.51806413G>A | CA384880538 | SCN8A | c.4927G>A (p.Ala1643Thr) c.2991G>A c.4804G>A (p.Ala1602Thr) c.4960G>A (p.Ala1654Thr) | gnomAD v4 |
12 | g.51806413G>C | CA384880540 | SCN8A | c.4927G>C (p.Ala1643Pro) c.2991G>C c.4804G>C (p.Ala1602Pro) c.4960G>C (p.Ala1654Pro) | |
12 | g.51806413G>T | CA384880542 | SCN8A | c.4927G>T (p.Ala1643Ser) c.2991G>T c.4804G>T (p.Ala1602Ser) c.4960G>T (p.Ala1654Ser) | |
12 | g.51806414C>A | CA384880544 | SCN8A | c.4928C>A (p.Ala1643Asp) c.2992C>A c.4805C>A (p.Ala1602Asp) c.4961C>A (p.Ala1654Asp) | |
12 | g.51806414C= | CA2036193031 | SCN8A | c.4928C= (p.Ala1643=) c.2992C= c.4805C= (p.Ala1602=) c.4961C= (p.Ala1654=) | |
12 | g.51806414C>G | CA384880546 | SCN8A | c.4928C>G (p.Ala1643Gly) c.2992C>G c.4805C>G (p.Ala1602Gly) c.4961C>G (p.Ala1654Gly) | |
12 | g.51806414C>T | CA236327405 | SCN8A | c.4928C>T (p.Ala1643Val) c.2992C>T c.4805C>T (p.Ala1602Val) c.4961C>T (p.Ala1654Val) | dbSNP |
12 | g.51806415C>A | CA479788164 | SCN8A | c.4929C>A (p.Ala1643=) c.2993C>A c.4806C>A (p.Ala1602=) c.4962C>A (p.Ala1654=) | |
12 | g.51806415C>G | CA479788165 | SCN8A | c.4929C>G (p.Ala1643=) c.2993C>G c.4806C>G (p.Ala1602=) c.4962C>G (p.Ala1654=) | |
12 | g.51806415C>T | CA479788167 | SCN8A | c.4929C>T (p.Ala1643=) c.2993C>T c.4806C>T (p.Ala1602=) c.4962C>T (p.Ala1654=) |