| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | 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 |