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