Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51807236G>A | CA384889113 | SCN8A | c.5750G>A (p.Cys1917Tyr) c.5627G>A (p.Cys1876Tyr) c.5783G>A (p.Cys1928Tyr) | |
12 | g.51807236G>C | CA384889117 | SCN8A | c.5750G>C (p.Cys1917Ser) c.5627G>C (p.Cys1876Ser) c.5783G>C (p.Cys1928Ser) | |
12 | g.51807236G>T | CA384889118 | SCN8A | c.5750G>T (p.Cys1917Phe) c.5627G>T (p.Cys1876Phe) c.5783G>T (p.Cys1928Phe) | |
12 | g.51807237C>A | CA384889132 | SCN8A | c.5751C>A (p.Cys1917Ter) c.5628C>A (p.Cys1876Ter) c.5784C>A (p.Cys1928Ter) | dbSNP |
12 | g.51807237C= | CA2036194888 | SCN8A | c.5751C= (p.Cys1917=) c.5628C= (p.Cys1876=) c.5784C= (p.Cys1928=) | |
12 | g.51807237C>G | CA384889136 | SCN8A | c.5751C>G (p.Cys1917Trp) c.5628C>G (p.Cys1876Trp) c.5784C>G (p.Cys1928Trp) | |
12 | g.51807237C>T | CA480062180 | SCN8A | c.5751C>T (p.Cys1917=) c.5628C>T (p.Cys1876=) c.5784C>T (p.Cys1928=) | gnomAD v4 |
12 | g.51807238A= | CA2036194894 | SCN8A | c.5752A= (p.Lys1918=) c.5629A= (p.Lys1877=) c.5785A= (p.Lys1929=) | |
12 | g.51807238A>C | CA384889139 | SCN8A | c.5752A>C (p.Lys1918Gln) c.5629A>C (p.Lys1877Gln) c.5785A>C (p.Lys1929Gln) | |
12 | g.51807238A>G | CA384889141 | SCN8A | c.5752A>G (p.Lys1918Glu) c.5629A>G (p.Lys1877Glu) c.5785A>G (p.Lys1929Glu) | |
12 | g.51807238A>T | CA384889144 | SCN8A | c.5752A>T (p.Lys1918Ter) c.5629A>T (p.Lys1877Ter) c.5785A>T (p.Lys1929Ter) | dbSNP |
12 | g.51807239A>C | CA384889148 | SCN8A | c.5753A>C (p.Lys1918Thr) c.5630A>C (p.Lys1877Thr) c.5786A>C (p.Lys1929Thr) | |
12 | g.51807239A>G | CA384889151 | SCN8A | c.5753A>G (p.Lys1918Arg) c.5630A>G (p.Lys1877Arg) c.5786A>G (p.Lys1929Arg) | |
12 | g.51807239A>T | CA384889154 | SCN8A | c.5753A>T (p.Lys1918Ile) c.5630A>T (p.Lys1877Ile) c.5786A>T (p.Lys1929Ile) | |
12 | g.51807240A= | CA2036194897 | SCN8A | c.5754A= (p.Lys1918=) c.5631A= (p.Lys1877=) c.5787A= (p.Lys1929=) | |
12 | g.51807240A>C | CA384889159 | SCN8A | c.5754A>C (p.Lys1918Asn) c.5631A>C (p.Lys1877Asn) c.5787A>C (p.Lys1929Asn) | |
12 | g.51807240A>G | CA480062194 | SCN8A | c.5754A>G (p.Lys1918=) c.5631A>G (p.Lys1877=) c.5787A>G (p.Lys1929=) | ClinVar dbSNP |
12 | g.51807240A>T | CA384889162 | SCN8A | c.5754A>T (p.Lys1918Asn) c.5631A>T (p.Lys1877Asn) c.5787A>T (p.Lys1929Asn) | |
12 | g.51807241A= | CA2036194902 | SCN8A | c.5755A= (p.Lys1919=) c.5632A= (p.Lys1878=) c.5788A= (p.Lys1930=) | |
12 | g.51807241A>C | CA384889166 | SCN8A | c.5755A>C (p.Lys1919Gln) c.5632A>C (p.Lys1878Gln) c.5788A>C (p.Lys1930Gln) | |
12 | g.51807241A>G | CA384889169 | SCN8A | c.5755A>G (p.Lys1919Glu) c.5632A>G (p.Lys1878Glu) c.5788A>G (p.Lys1930Glu) | |
12 | g.51807241A>T | CA384889171 | SCN8A | c.5755A>T (p.Lys1919Ter) c.5632A>T (p.Lys1878Ter) c.5788A>T (p.Lys1930Ter) | dbSNP |
12 | g.51807242A>C | CA384889182 | SCN8A | c.5756A>C (p.Lys1919Thr) c.5633A>C (p.Lys1878Thr) c.5789A>C (p.Lys1930Thr) | |
12 | g.51807242A>G | CA384889178 | SCN8A | c.5756A>G (p.Lys1919Arg) c.5633A>G (p.Lys1878Arg) c.5789A>G (p.Lys1930Arg) | |
12 | g.51807242A>T | CA384889175 | SCN8A | c.5756A>T (p.Lys1919Met) c.5633A>T (p.Lys1878Met) c.5789A>T (p.Lys1930Met) | |
12 | g.51807243G>A | CA6571949 | SCN8A | c.5757G>A (p.Lys1919=) c.5634G>A (p.Lys1878=) c.5790G>A (p.Lys1930=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807243G>C | CA384889186 | SCN8A | c.5757G>C (p.Lys1919Asn) c.5634G>C (p.Lys1878Asn) c.5790G>C (p.Lys1930Asn) | |
12 | g.51807243G= | CA2036194908 | SCN8A | c.5757G= (p.Lys1919=) c.5634G= (p.Lys1878=) c.5790G= (p.Lys1930=) | |
12 | g.51807243G>T | CA384889189 | SCN8A | c.5757G>T (p.Lys1919Asn) c.5634G>T (p.Lys1878Asn) c.5790G>T (p.Lys1930Asn) | dbSNP |
12 | g.51807244A>C | CA384889193 | SCN8A | c.5758A>C (p.Thr1920Pro) c.5635A>C (p.Thr1879Pro) c.5791A>C (p.Thr1931Pro) | ClinVar dbSNP gnomAD v4 |
12 | g.51807244A>G | CA384889211 | SCN8A | c.5758A>G (p.Thr1920Ala) c.5635A>G (p.Thr1879Ala) c.5791A>G (p.Thr1931Ala) | |
12 | g.51807244A>T | CA384889214 | SCN8A | c.5758A>T (p.Thr1920Ser) c.5635A>T (p.Thr1879Ser) c.5791A>T (p.Thr1931Ser) | |
12 | g.51807245C>A | CA384889217 | SCN8A | c.5759C>A (p.Thr1920Lys) c.5636C>A (p.Thr1879Lys) c.5792C>A (p.Thr1931Lys) | dbSNP |
12 | g.51807245C>G | CA384889221 | SCN8A | c.5759C>G (p.Thr1920Arg) c.5636C>G (p.Thr1879Arg) c.5792C>G (p.Thr1931Arg) | gnomAD v4 |
12 | g.51807245C>T | CA384889225 | SCN8A | c.5759C>T (p.Thr1920Ile) c.5636C>T (p.Thr1879Ile) c.5792C>T (p.Thr1931Ile) | gnomAD v4 |
12 | g.51807246A= | CA2036194916 | SCN8A | c.5760A= (p.Thr1920=) c.5637A= (p.Thr1879=) c.5793A= (p.Thr1931=) | |
12 | g.51807246A>C | CA6571950 | SCN8A | c.5760A>C (p.Thr1920=) c.5637A>C (p.Thr1879=) c.5793A>C (p.Thr1931=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807246A>G | CA480062212 | SCN8A | c.5760A>G (p.Thr1920=) c.5637A>G (p.Thr1879=) c.5793A>G (p.Thr1931=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807246A>T | CA480062213 | SCN8A | c.5760A>T (p.Thr1920=) c.5637A>T (p.Thr1879=) c.5793A>T (p.Thr1931=) | |
12 | g.51807247A= | CA2036194921 | SCN8A | c.5761A= (p.Thr1921=) c.5638A= (p.Thr1880=) c.5794A= (p.Thr1932=) | |
12 | g.51807247A>C | CA318303 | SCN8A | c.5761A>C (p.Thr1921Pro) c.5638A>C (p.Thr1880Pro) c.5794A>C (p.Thr1932Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807247A>G | CA6571951 | SCN8A | c.5761A>G (p.Thr1921Ala) c.5638A>G (p.Thr1880Ala) c.5794A>G (p.Thr1932Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807247A>T | CA384889231 | SCN8A | c.5761A>T (p.Thr1921Ser) c.5638A>T (p.Thr1880Ser) c.5794A>T (p.Thr1932Ser) | |
12 | g.51807248C>A | CA384889246 | SCN8A | c.5762C>A (p.Thr1921Asn) c.5639C>A (p.Thr1880Asn) c.5795C>A (p.Thr1932Asn) | gnomAD v4 |
12 | g.51807248C>G | CA384889235 | SCN8A | c.5762C>G (p.Thr1921Ser) c.5639C>G (p.Thr1880Ser) c.5795C>G (p.Thr1932Ser) | |
12 | g.51807248C>T | CA384889243 | SCN8A | c.5762C>T (p.Thr1921Ile) c.5639C>T (p.Thr1880Ile) c.5795C>T (p.Thr1932Ile) | |
12 | g.51807249T>A | CA480062221 | SCN8A | c.5763T>A (p.Thr1921=) c.5640T>A (p.Thr1880=) c.5796T>A (p.Thr1932=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807249T>C | CA480062223 | SCN8A | c.5763T>C (p.Thr1921=) c.5640T>C (p.Thr1880=) c.5796T>C (p.Thr1932=) | |
12 | g.51807249T>G | CA480062222 | SCN8A | c.5763T>G (p.Thr1921=) c.5640T>G (p.Thr1880=) c.5796T>G (p.Thr1932=) | |
12 | g.51807249T= | CA2036194932 | SCN8A | c.5763T= (p.Thr1921=) c.5640T= (p.Thr1880=) c.5796T= (p.Thr1932=) | |
12 | g.51807250T>A | CA384889250 | SCN8A | c.5764T>A (p.Ser1922Thr) c.5641T>A (p.Ser1881Thr) c.5797T>A (p.Ser1933Thr) | ClinVar dbSNP |
12 | g.51807250T>C | CA384889254 | SCN8A | c.5764T>C (p.Ser1922Pro) c.5641T>C (p.Ser1881Pro) c.5797T>C (p.Ser1933Pro) | |
12 | g.51807250T>G | CA384889261 | SCN8A | c.5764T>G (p.Ser1922Ala) c.5641T>G (p.Ser1881Ala) c.5797T>G (p.Ser1933Ala) | |
12 | g.51807251C>A | CA384889265 | SCN8A | c.5765C>A (p.Ser1922Tyr) c.5642C>A (p.Ser1881Tyr) c.5798C>A (p.Ser1933Tyr) | |
12 | g.51807251C>G | CA384889266 | SCN8A | c.5765C>G (p.Ser1922Cys) c.5642C>G (p.Ser1881Cys) c.5798C>G (p.Ser1933Cys) | |
12 | g.51807251C>T | CA384889268 | SCN8A | c.5765C>T (p.Ser1922Phe) c.5642C>T (p.Ser1881Phe) c.5798C>T (p.Ser1933Phe) | gnomAD v3 gnomAD v4 |
12 | g.51807252T>A | CA480062227 | SCN8A | c.5766T>A (p.Ser1922=) c.5643T>A (p.Ser1881=) c.5799T>A (p.Ser1933=) | |
12 | g.51807252T>C | CA480062228 | SCN8A | c.5766T>C (p.Ser1922=) c.5643T>C (p.Ser1881=) c.5799T>C (p.Ser1933=) | |
12 | g.51807252T>G | CA480062229 | SCN8A | c.5766T>G (p.Ser1922=) c.5643T>G (p.Ser1881=) c.5799T>G (p.Ser1933=) | |
12 | g.51807253A= | CA2036194937 | SCN8A | c.5767A= (p.Asn1923=) c.5644A= (p.Asn1882=) c.5800A= (p.Asn1934=) | |
12 | g.51807253A>C | CA384889271 | SCN8A | c.5767A>C (p.Asn1923His) c.5644A>C (p.Asn1882His) c.5800A>C (p.Asn1934His) | gnomAD v4 |
12 | g.51807253A>G | CA384889273 | SCN8A | c.5767A>G (p.Asn1923Asp) c.5644A>G (p.Asn1882Asp) c.5800A>G (p.Asn1934Asp) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807253A>T | CA384889275 | SCN8A | c.5767A>T (p.Asn1923Tyr) c.5644A>T (p.Asn1882Tyr) c.5800A>T (p.Asn1934Tyr) | |
12 | g.51807254A>C | CA384889286 | SCN8A | c.5768A>C (p.Asn1923Thr) c.5645A>C (p.Asn1882Thr) c.5801A>C (p.Asn1934Thr) | |
12 | g.51807254A>G | CA384889287 | SCN8A | c.5768A>G (p.Asn1923Ser) c.5645A>G (p.Asn1882Ser) c.5801A>G (p.Asn1934Ser) | |
12 | g.51807254A>T | CA384889289 | SCN8A | c.5768A>T (p.Asn1923Ile) c.5645A>T (p.Asn1882Ile) c.5801A>T (p.Asn1934Ile) | |
12 | g.51807255T>A | CA384889293 | SCN8A | c.5769T>A (p.Asn1923Lys) c.5646T>A (p.Asn1882Lys) c.5802T>A (p.Asn1934Lys) | |
12 | g.51807255T>C | CA480062237 | SCN8A | c.5769T>C (p.Asn1923=) c.5646T>C (p.Asn1882=) c.5802T>C (p.Asn1934=) | ClinVar |
12 | g.51807255T>G | CA384889292 | SCN8A | c.5769T>G (p.Asn1923Lys) c.5646T>G (p.Asn1882Lys) c.5802T>G (p.Asn1934Lys) | |
12 | g.51807256A= | CA2036194942 | SCN8A | c.5770A= (p.Lys1924=) c.5647A= (p.Lys1883=) c.5803A= (p.Lys1935=) | |
12 | g.51807256A>C | CA384889294 | SCN8A | c.5770A>C (p.Lys1924Gln) c.5647A>C (p.Lys1883Gln) c.5803A>C (p.Lys1935Gln) | |
12 | g.51807256A>G | CA384889299 | SCN8A | c.5770A>G (p.Lys1924Glu) c.5647A>G (p.Lys1883Glu) c.5803A>G (p.Lys1935Glu) | |
12 | g.51807256A>T | CA384889296 | SCN8A | c.5770A>T (p.Lys1924Ter) c.5647A>T (p.Lys1883Ter) c.5803A>T (p.Lys1935Ter) | dbSNP |
12 | g.51807257A>C | CA384889302 | SCN8A | c.5771A>C (p.Lys1924Thr) c.5648A>C (p.Lys1883Thr) c.5804A>C (p.Lys1935Thr) | |
12 | g.51807257A>G | CA384889310 | SCN8A | c.5771A>G (p.Lys1924Arg) c.5648A>G (p.Lys1883Arg) c.5804A>G (p.Lys1935Arg) | |
12 | g.51807257A>T | CA384889307 | SCN8A | c.5771A>T (p.Lys1924Met) c.5648A>T (p.Lys1883Met) c.5804A>T (p.Lys1935Met) | |
12 | g.51807258G>A | CA480062251 | SCN8A | c.5772G>A (p.Lys1924=) c.5649G>A (p.Lys1883=) c.5805G>A (p.Lys1935=) | |
12 | g.51807258G>C | CA384889315 | SCN8A | c.5772G>C (p.Lys1924Asn) c.5649G>C (p.Lys1883Asn) c.5805G>C (p.Lys1935Asn) | |
12 | g.51807258G>T | CA384889320 | SCN8A | c.5772G>T (p.Lys1924Asn) c.5649G>T (p.Lys1883Asn) c.5805G>T (p.Lys1935Asn) | |
12 | g.51807259C>A | CA384889322 | SCN8A | c.5773C>A (p.Leu1925Met) c.5650C>A (p.Leu1884Met) c.5806C>A (p.Leu1936Met) | |
12 | g.51807259C>G | CA384889325 | SCN8A | c.5773C>G (p.Leu1925Val) c.5650C>G (p.Leu1884Val) c.5806C>G (p.Leu1936Val) | |
12 | g.51807259C>T | CA480062258 | SCN8A | c.5773C>T (p.Leu1925=) c.5650C>T (p.Leu1884=) c.5806C>T (p.Leu1936=) | |
12 | g.51807260T>A | CA384889328 | SCN8A | c.5774T>A (p.Leu1925Gln) c.5651T>A (p.Leu1884Gln) c.5807T>A (p.Leu1936Gln) | |
12 | g.51807260T>C | CA384889331 | SCN8A | c.5774T>C (p.Leu1925Pro) c.5651T>C (p.Leu1884Pro) c.5807T>C (p.Leu1936Pro) | |
12 | g.51807260T>G | CA384889332 | SCN8A | c.5774T>G (p.Leu1925Arg) c.5651T>G (p.Leu1884Arg) c.5807T>G (p.Leu1936Arg) | |
12 | g.51807261G>A | CA480062260 | SCN8A | c.5775G>A (p.Leu1925=) c.5652G>A (p.Leu1884=) c.5808G>A (p.Leu1936=) | gnomAD v4 |
12 | g.51807261G>C | CA480062261 | SCN8A | c.5775G>C (p.Leu1925=) c.5652G>C (p.Leu1884=) c.5808G>C (p.Leu1936=) | |
12 | g.51807261G>T | CA480062263 | SCN8A | c.5775G>T (p.Leu1925=) c.5652G>T (p.Leu1884=) c.5808G>T (p.Leu1936=) | gnomAD v4 |
12 | g.51807262G>A | CA384889335 | SCN8A | c.5776G>A (p.Glu1926Lys) c.5653G>A (p.Glu1885Lys) c.5809G>A (p.Glu1937Lys) | |
12 | g.51807262G>C | CA384889338 | SCN8A | c.5776G>C (p.Glu1926Gln) c.5653G>C (p.Glu1885Gln) c.5809G>C (p.Glu1937Gln) | |
12 | g.51807262G= | CA2036194947 | SCN8A | c.5776G= (p.Glu1926=) c.5653G= (p.Glu1885=) c.5809G= (p.Glu1937=) | |
12 | g.51807262G>T | CA384889340 | SCN8A | c.5776G>T (p.Glu1926Ter) c.5653G>T (p.Glu1885Ter) c.5809G>T (p.Glu1937Ter) | dbSNP |
12 | g.51807263A>C | CA384889343 | SCN8A | c.5777A>C (p.Glu1926Ala) c.5654A>C (p.Glu1885Ala) c.5810A>C (p.Glu1937Ala) | gnomAD v4 |
12 | g.51807263A>G | CA384889344 | SCN8A | c.5777A>G (p.Glu1926Gly) c.5654A>G (p.Glu1885Gly) c.5810A>G (p.Glu1937Gly) | gnomAD v4 |
12 | g.51807263A>T | CA384889347 | SCN8A | c.5777A>T (p.Glu1926Val) c.5654A>T (p.Glu1885Val) c.5810A>T (p.Glu1937Val) | ClinVar |
12 | g.51807264G>A | CA480062271 | SCN8A | c.5778G>A (p.Glu1926=) c.5655G>A (p.Glu1885=) c.5811G>A (p.Glu1937=) | |
12 | g.51807264G>C | CA384889352 | SCN8A | c.5778G>C (p.Glu1926Asp) c.5655G>C (p.Glu1885Asp) c.5811G>C (p.Glu1937Asp) | |
12 | g.51807264G>T | CA384889350 | SCN8A | c.5778G>T (p.Glu1926Asp) c.5655G>T (p.Glu1885Asp) c.5811G>T (p.Glu1937Asp) | |
12 | g.51807265A>C | CA384889354 | SCN8A | c.5779A>C (p.Asn1927His) c.5656A>C (p.Asn1886His) c.5812A>C (p.Asn1938His) | |
12 | g.51807265A>G | CA384889357 | SCN8A | c.5779A>G (p.Asn1927Asp) c.5656A>G (p.Asn1886Asp) c.5812A>G (p.Asn1938Asp) | |
12 | g.51807265A>T | CA384889358 | SCN8A | c.5779A>T (p.Asn1927Tyr) c.5656A>T (p.Asn1886Tyr) c.5812A>T (p.Asn1938Tyr) | |
12 | g.51807266A= | CA2036194950 | SCN8A | c.5780A= (p.Asn1927=) c.5657A= (p.Asn1886=) c.5813A= (p.Asn1938=) | |
12 | g.51807266A>C | CA384889361 | SCN8A | c.5780A>C (p.Asn1927Thr) c.5657A>C (p.Asn1886Thr) c.5813A>C (p.Asn1938Thr) | |
12 | g.51807266A>G | CA384889371 | SCN8A | c.5780A>G (p.Asn1927Ser) c.5657A>G (p.Asn1886Ser) c.5813A>G (p.Asn1938Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807266A>T | CA384889372 | SCN8A | c.5780A>T (p.Asn1927Ile) c.5657A>T (p.Asn1886Ile) c.5813A>T (p.Asn1938Ile) | |
12 | g.51807267T>A | CA384889374 | SCN8A | c.5781T>A (p.Asn1927Lys) c.5658T>A (p.Asn1886Lys) c.5814T>A (p.Asn1938Lys) | |
12 | g.51807267T>C | CA6571952 | SCN8A | c.5781T>C (p.Asn1927=) c.5658T>C (p.Asn1886=) c.5814T>C (p.Asn1938=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807267T>G | CA384889378 | SCN8A | c.5781T>G (p.Asn1927Lys) c.5658T>G (p.Asn1886Lys) c.5814T>G (p.Asn1938Lys) | |
12 | g.51807267T= | CA2036194956 | SCN8A | c.5781T= (p.Asn1927=) c.5658T= (p.Asn1886=) c.5814T= (p.Asn1938=) | |
12 | g.51807268G>A | CA384889382 | SCN8A | c.5782G>A (p.Gly1928Arg) c.5659G>A (p.Gly1887Arg) c.5815G>A (p.Gly1939Arg) | |
12 | g.51807268G>C | CA384889386 | SCN8A | c.5782G>C (p.Gly1928Arg) c.5659G>C (p.Gly1887Arg) c.5815G>C (p.Gly1939Arg) | |
12 | g.51807268G= | CA2036194960 | SCN8A | c.5782G= (p.Gly1928=) c.5659G= (p.Gly1887=) c.5815G= (p.Gly1939=) | |
12 | g.51807268G>T | CA384889394 | SCN8A | c.5782G>T (p.Gly1928Ter) c.5659G>T (p.Gly1887Ter) c.5815G>T (p.Gly1939Ter) | dbSNP |
12 | g.51807269G>A | CA384889398 | SCN8A | c.5783G>A (p.Gly1928Glu) c.5660G>A (p.Gly1887Glu) c.5816G>A (p.Gly1939Glu) | |
12 | g.51807269G>C | CA384889411 | SCN8A | c.5783G>C (p.Gly1928Ala) c.5660G>C (p.Gly1887Ala) c.5816G>C (p.Gly1939Ala) | |
12 | g.51807269G>T | CA384889396 | SCN8A | c.5783G>T (p.Gly1928Val) c.5660G>T (p.Gly1887Val) c.5816G>T (p.Gly1939Val) | |
12 | g.51807270A>C | CA480062287 | SCN8A | c.5784A>C (p.Gly1928=) c.5661A>C (p.Gly1887=) c.5817A>C (p.Gly1939=) | |
12 | g.51807270A>G | CA480062288 | SCN8A | c.5784A>G (p.Gly1928=) c.5661A>G (p.Gly1887=) c.5817A>G (p.Gly1939=) | |
12 | g.51807270A>T | CA480062289 | SCN8A | c.5784A>T (p.Gly1928=) c.5661A>T (p.Gly1887=) c.5817A>T (p.Gly1939=) | |
12 | g.51807271G>A | CA384889417 | SCN8A | c.5785G>A (p.Gly1929Ser) c.5662G>A (p.Gly1888Ser) c.5818G>A (p.Gly1940Ser) | |
12 | g.51807271G>C | CA384889421 | SCN8A | c.5785G>C (p.Gly1929Arg) c.5662G>C (p.Gly1888Arg) c.5818G>C (p.Gly1940Arg) | |
12 | g.51807271G>T | CA384889424 | SCN8A | c.5785G>T (p.Gly1929Cys) c.5662G>T (p.Gly1888Cys) c.5818G>T (p.Gly1940Cys) | |
12 | g.51807272G>A | CA384889427 | SCN8A | c.5786G>A (p.Gly1929Asp) c.5663G>A (p.Gly1888Asp) c.5819G>A (p.Gly1940Asp) | |
12 | g.51807272G>C | CA6571953 | SCN8A | c.5786G>C (p.Gly1929Ala) c.5663G>C (p.Gly1888Ala) c.5819G>C (p.Gly1940Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807272G= | CA2036194968 | SCN8A | c.5786G= (p.Gly1929=) c.5663G= (p.Gly1888=) c.5819G= (p.Gly1940=) | |
12 | g.51807272G>T | CA384889432 | SCN8A | c.5786G>T (p.Gly1929Val) c.5663G>T (p.Gly1888Val) c.5819G>T (p.Gly1940Val) | |
12 | g.51807273C>A | CA480062293 | SCN8A | c.5787C>A (p.Gly1929=) c.5664C>A (p.Gly1888=) c.5820C>A (p.Gly1940=) | |
12 | g.51807273C>G | CA480062292 | SCN8A | c.5787C>G (p.Gly1929=) c.5664C>G (p.Gly1888=) c.5820C>G (p.Gly1940=) | |
12 | g.51807273C>T | CA480062291 | SCN8A | c.5787C>T (p.Gly1929=) c.5664C>T (p.Gly1888=) c.5820C>T (p.Gly1940=) | |
12 | g.51807274A>C | CA384889436 | SCN8A | c.5788A>C (p.Thr1930Pro) c.5665A>C (p.Thr1889Pro) c.5821A>C (p.Thr1941Pro) | |
12 | g.51807274A>G | CA384889449 | SCN8A | c.5788A>G (p.Thr1930Ala) c.5665A>G (p.Thr1889Ala) c.5821A>G (p.Thr1941Ala) | |
12 | g.51807274A>T | CA384889452 | SCN8A | c.5788A>T (p.Thr1930Ser) c.5665A>T (p.Thr1889Ser) c.5821A>T (p.Thr1941Ser) | |
12 | g.51807275C>A | CA384889455 | SCN8A | c.5789C>A (p.Thr1930Lys) c.5666C>A (p.Thr1889Lys) c.5822C>A (p.Thr1941Lys) | |
12 | g.51807275C= | CA2036194974 | SCN8A | c.5789C= (p.Thr1930=) c.5666C= (p.Thr1889=) c.5822C= (p.Thr1941=) | |
12 | g.51807275C>G | CA384889459 | SCN8A | c.5789C>G (p.Thr1930Arg) c.5666C>G (p.Thr1889Arg) c.5822C>G (p.Thr1941Arg) | |
12 | g.51807275C>T | CA6571954 | SCN8A | c.5789C>T (p.Thr1930Ile) c.5666C>T (p.Thr1889Ile) c.5822C>T (p.Thr1941Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807276A>C | CA480062298 | SCN8A | c.5790A>C (p.Thr1930=) c.5667A>C (p.Thr1889=) c.5823A>C (p.Thr1941=) | |
12 | g.51807276A>G | CA480062299 | SCN8A | c.5790A>G (p.Thr1930=) c.5667A>G (p.Thr1889=) c.5823A>G (p.Thr1941=) | gnomAD v4 |
12 | g.51807276A>T | CA480062301 | SCN8A | c.5790A>T (p.Thr1930=) c.5667A>T (p.Thr1889=) c.5823A>T (p.Thr1941=) | |
12 | g.51807277C>A | CA384889469 | SCN8A | c.5791C>A (p.His1931Asn) c.5668C>A (p.His1890Asn) c.5824C>A (p.His1942Asn) | |
12 | g.51807277C>G | CA384889463 | SCN8A | c.5791C>G (p.His1931Asp) c.5668C>G (p.His1890Asp) c.5824C>G (p.His1942Asp) | |
12 | g.51807277C>T | CA384889466 | SCN8A | c.5791C>T (p.His1931Tyr) c.5668C>T (p.His1890Tyr) c.5824C>T (p.His1942Tyr) | gnomAD v4 |
12 | g.51807278A>C | CA384889470 | SCN8A | c.5792A>C (p.His1931Pro) c.5669A>C (p.His1890Pro) c.5825A>C (p.His1942Pro) | |
12 | g.51807278A>G | CA384889471 | SCN8A | c.5792A>G (p.His1931Arg) c.5669A>G (p.His1890Arg) c.5825A>G (p.His1942Arg) | |
12 | g.51807278A>T | CA384889472 | SCN8A | c.5792A>T (p.His1931Leu) c.5669A>T (p.His1890Leu) c.5825A>T (p.His1942Leu) | |
12 | g.51807279C>A | CA384889475 | SCN8A | c.5793C>A (p.His1931Gln) c.5670C>A (p.His1890Gln) c.5826C>A (p.His1942Gln) | |
12 | g.51807279C= | CA2036194978 | SCN8A | c.5793C= (p.His1931=) c.5670C= (p.His1890=) c.5826C= (p.His1942=) | |
12 | g.51807279C>G | CA384889477 | SCN8A | c.5793C>G (p.His1931Gln) c.5670C>G (p.His1890Gln) c.5826C>G (p.His1942Gln) | ClinVar dbSNP |
12 | g.51807279C>T | CA480062308 | SCN8A | c.5793C>T (p.His1931=) c.5670C>T (p.His1890=) c.5826C>T (p.His1942=) | |
12 | g.51807280C>A | CA480062309 | SCN8A | c.5794C>A (p.Arg1932=) c.5671C>A (p.Arg1891=) c.5827C>A (p.Arg1943=) | |
12 | g.51807280C= | CA2036194982 | SCN8A | c.5794C= (p.Arg1932=) c.5671C= (p.Arg1891=) c.5827C= (p.Arg1943=) | |
12 | g.51807280C>G | CA384889485 | SCN8A | c.5794C>G (p.Arg1932Gly) c.5671C>G (p.Arg1891Gly) c.5827C>G (p.Arg1943Gly) | |
12 | g.51807280C>T | CA6571955 | SCN8A | c.5794C>T (p.Arg1932Trp) c.5671C>T (p.Arg1891Trp) c.5827C>T (p.Arg1943Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807281G>A | CA6571956 | SCN8A | c.5795G>A (p.Arg1932Gln) c.5672G>A (p.Arg1891Gln) c.5828G>A (p.Arg1943Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807281G>C | CA318305 | SCN8A | c.5795G>C (p.Arg1932Pro) c.5672G>C (p.Arg1891Pro) c.5828G>C (p.Arg1943Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807281G= | CA2036194990 | SCN8A | c.5795G= (p.Arg1932=) c.5672G= (p.Arg1891=) c.5828G= (p.Arg1943=) | |
12 | g.51807281G>T | CA384889496 | SCN8A | c.5795G>T (p.Arg1932Leu) c.5672G>T (p.Arg1891Leu) c.5828G>T (p.Arg1943Leu) | |
12 | g.51807282G>A | CA480062316 | SCN8A | c.5796G>A (p.Arg1932=) c.5673G>A (p.Arg1891=) c.5829G>A (p.Arg1943=) | ClinVar dbSNP |
12 | g.51807282G>C | CA480062317 | SCN8A | c.5796G>C (p.Arg1932=) c.5673G>C (p.Arg1891=) c.5829G>C (p.Arg1943=) | |
12 | g.51807282G>T | CA480062319 | SCN8A | c.5796G>T (p.Arg1932=) c.5673G>T (p.Arg1891=) c.5829G>T (p.Arg1943=) | |
12 | g.51807283G>A | CA384889498 | SCN8A | c.5797G>A (p.Glu1933Lys) c.5674G>A (p.Glu1892Lys) c.5830G>A (p.Glu1944Lys) | |
12 | g.51807283G>C | CA384889500 | SCN8A | c.5797G>C (p.Glu1933Gln) c.5674G>C (p.Glu1892Gln) c.5830G>C (p.Glu1944Gln) | |
12 | g.51807283G= | CA2036194995 | SCN8A | c.5797G= (p.Glu1933=) c.5674G= (p.Glu1892=) c.5830G= (p.Glu1944=) | |
12 | g.51807283G>T | CA384889501 | SCN8A | c.5797G>T (p.Glu1933Ter) c.5674G>T (p.Glu1892Ter) c.5830G>T (p.Glu1944Ter) | dbSNP |
12 | g.51807284A>C | CA384889509 | SCN8A | c.5798A>C (p.Glu1933Ala) c.5675A>C (p.Glu1892Ala) c.5831A>C (p.Glu1944Ala) | |
12 | g.51807284A>G | CA384889506 | SCN8A | c.5798A>G (p.Glu1933Gly) c.5675A>G (p.Glu1892Gly) c.5831A>G (p.Glu1944Gly) | |
12 | g.51807284A>T | CA384889504 | SCN8A | c.5798A>T (p.Glu1933Val) c.5675A>T (p.Glu1892Val) c.5831A>T (p.Glu1944Val) | |
12 | g.51807285G>A | CA480062324 | SCN8A | c.5799G>A (p.Glu1933=) c.5676G>A (p.Glu1892=) c.5832G>A (p.Glu1944=) | |
12 | g.51807285G>C | CA384889513 | SCN8A | c.5799G>C (p.Glu1933Asp) c.5676G>C (p.Glu1892Asp) c.5832G>C (p.Glu1944Asp) | |
12 | g.51807285G>T | CA384889512 | SCN8A | c.5799G>T (p.Glu1933Asp) c.5676G>T (p.Glu1892Asp) c.5832G>T (p.Glu1944Asp) | |
12 | g.51807286A= | CA2036194998 | SCN8A | c.5800A= (p.Lys1934=) c.5677A= (p.Lys1893=) c.5833A= (p.Lys1945=) | |
12 | g.51807286A>C | CA384889516 | SCN8A | c.5800A>C (p.Lys1934Gln) c.5677A>C (p.Lys1893Gln) c.5833A>C (p.Lys1945Gln) | |
12 | g.51807286A>G | CA384889514 | SCN8A | c.5800A>G (p.Lys1934Glu) c.5677A>G (p.Lys1893Glu) c.5833A>G (p.Lys1945Glu) | ClinVar dbSNP |
12 | g.51807286A>T | CA384889515 | SCN8A | c.5800A>T (p.Lys1934Ter) c.5677A>T (p.Lys1893Ter) c.5833A>T (p.Lys1945Ter) | dbSNP |
12 | g.51807287A>C | CA384889517 | SCN8A | c.5801A>C (p.Lys1934Thr) c.5678A>C (p.Lys1893Thr) c.5834A>C (p.Lys1945Thr) | gnomAD v4 |
12 | g.51807287A>G | CA384889518 | SCN8A | c.5801A>G (p.Lys1934Arg) c.5678A>G (p.Lys1893Arg) c.5834A>G (p.Lys1945Arg) | gnomAD v4 |
12 | g.51807287A>T | CA384889521 | SCN8A | c.5801A>T (p.Lys1934Ile) c.5678A>T (p.Lys1893Ile) c.5834A>T (p.Lys1945Ile) | |
12 | g.51807288A>C | CA384889524 | SCN8A | c.5802A>C (p.Lys1934Asn) c.5679A>C (p.Lys1893Asn) c.5835A>C (p.Lys1945Asn) | |
12 | g.51807288A>G | CA480062334 | SCN8A | c.5802A>G (p.Lys1934=) c.5679A>G (p.Lys1893=) c.5835A>G (p.Lys1945=) | |
12 | g.51807288A>T | CA384889526 | SCN8A | c.5802A>T (p.Lys1934Asn) c.5679A>T (p.Lys1893Asn) c.5835A>T (p.Lys1945Asn) | COSMIC COSMIC |
12 | g.51807289A= | CA2036195001 | SCN8A | c.5803A= (p.Lys1935=) c.5680A= (p.Lys1894=) c.5836A= (p.Lys1946=) | |
12 | g.51807289A>C | CA384889528 | SCN8A | c.5803A>C (p.Lys1935Gln) c.5680A>C (p.Lys1894Gln) c.5836A>C (p.Lys1946Gln) | |
12 | g.51807289A>G | CA384889530 | SCN8A | c.5803A>G (p.Lys1935Glu) c.5680A>G (p.Lys1894Glu) c.5836A>G (p.Lys1946Glu) | |
12 | g.51807289A>T | CA384889533 | SCN8A | c.5803A>T (p.Lys1935Ter) c.5680A>T (p.Lys1894Ter) c.5836A>T (p.Lys1946Ter) | dbSNP |
12 | g.51807290A>C | CA384889539 | SCN8A | c.5804A>C (p.Lys1935Thr) c.5681A>C (p.Lys1894Thr) c.5837A>C (p.Lys1946Thr) | |
12 | g.51807290A>G | CA384889540 | SCN8A | c.5804A>G (p.Lys1935Arg) c.5681A>G (p.Lys1894Arg) c.5837A>G (p.Lys1946Arg) | |
12 | g.51807290A>T | CA384889541 | SCN8A | c.5804A>T (p.Lys1935Ile) c.5681A>T (p.Lys1894Ile) c.5837A>T (p.Lys1946Ile) | |
12 | g.51807290_51807292delinsAAG | CA2036195005 | SCN8A | c.5804_5806delinsAAG (p.Lys1935=) c.5681_5683delinsAAG (p.Lys1894=) c.5837_5839delinsAAG (p.Lys1946=) | |
12 | g.51807291A>C | CA384889542 | SCN8A | c.5805A>C (p.Lys1935Asn) c.5682A>C (p.Lys1894Asn) c.5838A>C (p.Lys1946Asn) | |
12 | g.51807291A>G | CA480062339 | SCN8A | c.5805A>G (p.Lys1935=) c.5682A>G (p.Lys1894=) c.5838A>G (p.Lys1946=) | gnomAD v4 |
12 | g.51807291A>T | CA384889543 | SCN8A | c.5805A>T (p.Lys1935Asn) c.5682A>T (p.Lys1894Asn) c.5838A>T (p.Lys1946Asn) | |
12 | g.51807295_51807296del | CA689783793 | SCN8A | c.5809_5810del (p.Ser1937HisfsTer11) c.5686_5687del (p.Ser1896HisfsTer11) c.5842_5843del (p.Ser1948HisfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807292G>A | CA384889545 | SCN8A | c.5806G>A (p.Glu1936Lys) c.5683G>A (p.Glu1895Lys) c.5839G>A (p.Glu1947Lys) | |
12 | g.51807292G>C | CA384889558 | SCN8A | c.5806G>C (p.Glu1936Gln) c.5683G>C (p.Glu1895Gln) c.5839G>C (p.Glu1947Gln) | gnomAD v4 |
12 | g.51807292G= | CA2036195012 | SCN8A | c.5806G= (p.Glu1936=) c.5683G= (p.Glu1895=) c.5839G= (p.Glu1947=) | |
12 | g.51807292G>T | CA384889560 | SCN8A | c.5806G>T (p.Glu1936Ter) c.5683G>T (p.Glu1895Ter) c.5839G>T (p.Glu1947Ter) | dbSNP |
12 | g.51807293A>C | CA384889561 | SCN8A | c.5807A>C (p.Glu1936Ala) c.5684A>C (p.Glu1895Ala) c.5840A>C (p.Glu1947Ala) | |
12 | g.51807293A>G | CA384889562 | SCN8A | c.5807A>G (p.Glu1936Gly) c.5684A>G (p.Glu1895Gly) c.5840A>G (p.Glu1947Gly) | |
12 | g.51807293A>T | CA384889564 | SCN8A | c.5807A>T (p.Glu1936Val) c.5684A>T (p.Glu1895Val) c.5840A>T (p.Glu1947Val) | |
12 | g.51807294G>A | CA480062344 | SCN8A | c.5808G>A (p.Glu1936=) c.5685G>A (p.Glu1895=) c.5841G>A (p.Glu1947=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807294G>C | CA384889567 | SCN8A | c.5808G>C (p.Glu1936Asp) c.5685G>C (p.Glu1895Asp) c.5841G>C (p.Glu1947Asp) | |
12 | g.51807294G= | CA2036195016 | SCN8A | c.5808G= (p.Glu1936=) c.5685G= (p.Glu1895=) c.5841G= (p.Glu1947=) | |
12 | g.51807294G>T | CA384889572 | SCN8A | c.5808G>T (p.Glu1936Asp) c.5685G>T (p.Glu1895Asp) c.5841G>T (p.Glu1947Asp) | |
12 | g.51807295A= | CA2036195022 | SCN8A | c.5809A= (p.Ser1937=) c.5686A= (p.Ser1896=) c.5842A= (p.Ser1948=) | |
12 | g.51807295A>C | CA318307 | SCN8A | c.5809A>C (p.Ser1937Arg) c.5686A>C (p.Ser1896Arg) c.5842A>C (p.Ser1948Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807295A>G | CA384889580 | SCN8A | c.5809A>G (p.Ser1937Gly) c.5686A>G (p.Ser1896Gly) c.5842A>G (p.Ser1948Gly) | |
12 | g.51807295A>T | CA384889588 | SCN8A | c.5809A>T (p.Ser1937Cys) c.5686A>T (p.Ser1896Cys) c.5842A>T (p.Ser1948Cys) | |
12 | g.51807296G>A | CA384889594 | SCN8A | c.5810G>A (p.Ser1937Asn) c.5687G>A (p.Ser1896Asn) c.5843G>A (p.Ser1948Asn) | |
12 | g.51807296G>C | CA384889602 | SCN8A | c.5810G>C (p.Ser1937Thr) c.5687G>C (p.Ser1896Thr) c.5843G>C (p.Ser1948Thr) | |
12 | g.51807296G>T | CA384889591 | SCN8A | c.5810G>T (p.Ser1937Ile) c.5687G>T (p.Ser1896Ile) c.5843G>T (p.Ser1948Ile) | COSMIC COSMIC |
12 | g.51807297C>A | CA384889605 | SCN8A | c.5811C>A (p.Ser1937Arg) c.5688C>A (p.Ser1896Arg) c.5844C>A (p.Ser1948Arg) | |
12 | g.51807297C>G | CA384889608 | SCN8A | c.5811C>G (p.Ser1937Arg) c.5688C>G (p.Ser1896Arg) c.5844C>G (p.Ser1948Arg) | |
12 | g.51807297C>T | CA480062352 | SCN8A | c.5811C>T (p.Ser1937=) c.5688C>T (p.Ser1896=) c.5844C>T (p.Ser1948=) | |
12 | g.51807298A>C | CA384889623 | SCN8A | c.5812A>C (p.Thr1938Pro) c.5689A>C (p.Thr1897Pro) c.5845A>C (p.Thr1949Pro) | gnomAD v4 |
12 | g.51807298A>G | CA384889627 | SCN8A | c.5812A>G (p.Thr1938Ala) c.5689A>G (p.Thr1897Ala) c.5845A>G (p.Thr1949Ala) | |
12 | g.51807298A>T | CA384889630 | SCN8A | c.5812A>T (p.Thr1938Ser) c.5689A>T (p.Thr1897Ser) c.5845A>T (p.Thr1949Ser) | |
12 | g.51807299C>A | CA6571957 | SCN8A | c.5813C>A (p.Thr1938Asn) c.5690C>A (p.Thr1897Asn) c.5846C>A (p.Thr1949Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807299C= | CA2036195026 | SCN8A | c.5813C= (p.Thr1938=) c.5690C= (p.Thr1897=) c.5846C= (p.Thr1949=) | |
12 | g.51807299C>G | CA384889634 | SCN8A | c.5813C>G (p.Thr1938Ser) c.5690C>G (p.Thr1897Ser) c.5846C>G (p.Thr1949Ser) | |
12 | g.51807299C>T | CA384889633 | SCN8A | c.5813C>T (p.Thr1938Ile) c.5690C>T (p.Thr1897Ile) c.5846C>T (p.Thr1949Ile) | |
12 | g.51807300C>A | CA480062355 | SCN8A | c.5814C>A (p.Thr1938=) c.5691C>A (p.Thr1897=) c.5847C>A (p.Thr1949=) | |
12 | g.51807300C>G | CA480062357 | SCN8A | c.5814C>G (p.Thr1938=) c.5691C>G (p.Thr1897=) c.5847C>G (p.Thr1949=) | |
12 | g.51807300C>T | CA480062356 | SCN8A | c.5814C>T (p.Thr1938=) c.5691C>T (p.Thr1897=) c.5847C>T (p.Thr1949=) | |
12 | g.51807301C>A | CA384889635 | SCN8A | c.5815C>A (p.Pro1939Thr) c.5692C>A (p.Pro1898Thr) c.5848C>A (p.Pro1950Thr) | COSMIC COSMIC |
12 | g.51807301C>G | CA384889637 | SCN8A | c.5815C>G (p.Pro1939Ala) c.5692C>G (p.Pro1898Ala) c.5848C>G (p.Pro1950Ala) | |
12 | g.51807301C>T | CA384889639 | SCN8A | c.5815C>T (p.Pro1939Ser) c.5692C>T (p.Pro1898Ser) c.5848C>T (p.Pro1950Ser) | |
12 | g.51807302C>A | CA384889644 | SCN8A | c.5816C>A (p.Pro1939Gln) c.5693C>A (p.Pro1898Gln) c.5849C>A (p.Pro1950Gln) | |
12 | g.51807302C= | CA2036195030 | SCN8A | c.5816C= (p.Pro1939=) c.5693C= (p.Pro1898=) c.5849C= (p.Pro1950=) | |
12 | g.51807302C>G | CA384889647 | SCN8A | c.5816C>G (p.Pro1939Arg) c.5693C>G (p.Pro1898Arg) c.5849C>G (p.Pro1950Arg) | |
12 | g.51807302C>T | CA384889653 | SCN8A | c.5816C>T (p.Pro1939Leu) c.5693C>T (p.Pro1898Leu) c.5849C>T (p.Pro1950Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807303_51807305dup | CA2618842382 | SCN8A | c.5817_5819dup (p.Ser1940_Thr1941insSer) c.5694_5696dup (p.Ser1899_Thr1900insSer) c.5850_5852dup (p.Ser1951_Thr1952insSer) | gnomAD v4 |
12 | g.51807303A= | CA2036195032 | SCN8A | c.5817A= (p.Pro1939=) c.5694A= (p.Pro1898=) c.5850A= (p.Pro1950=) | |
12 | g.51807303A>C | CA480062358 | SCN8A | c.5817A>C (p.Pro1939=) c.5694A>C (p.Pro1898=) c.5850A>C (p.Pro1950=) | |
12 | g.51807303A>G | CA480062359 | SCN8A | c.5817A>G (p.Pro1939=) c.5694A>G (p.Pro1898=) c.5850A>G (p.Pro1950=) | dbSNP gnomAD v4 |
12 | g.51807303A>T | CA480062360 | SCN8A | c.5817A>T (p.Pro1939=) c.5694A>T (p.Pro1898=) c.5850A>T (p.Pro1950=) | |
12 | g.51807304T>A | CA384889657 | SCN8A | c.5818T>A (p.Ser1940Thr) c.5695T>A (p.Ser1899Thr) c.5851T>A (p.Ser1951Thr) | |
12 | g.51807304T>C | CA384889661 | SCN8A | c.5818T>C (p.Ser1940Pro) c.5695T>C (p.Ser1899Pro) c.5851T>C (p.Ser1951Pro) | |
12 | g.51807304T>G | CA384889659 | SCN8A | c.5818T>G (p.Ser1940Ala) c.5695T>G (p.Ser1899Ala) c.5851T>G (p.Ser1951Ala) | |
12 | g.51807305C>A | CA384889664 | SCN8A | c.5819C>A (p.Ser1940Tyr) c.5696C>A (p.Ser1899Tyr) c.5852C>A (p.Ser1951Tyr) | gnomAD v4 |
12 | g.51807305C>G | CA384889666 | SCN8A | c.5819C>G (p.Ser1940Cys) c.5696C>G (p.Ser1899Cys) c.5852C>G (p.Ser1951Cys) | |
12 | g.51807305C>T | CA384889667 | SCN8A | c.5819C>T (p.Ser1940Phe) c.5696C>T (p.Ser1899Phe) c.5852C>T (p.Ser1951Phe) | |
12 | g.51807306T>A | CA480062365 | SCN8A | c.5820T>A (p.Ser1940=) c.5697T>A (p.Ser1899=) c.5853T>A (p.Ser1951=) | |
12 | g.51807306T>C | CA480062366 | SCN8A | c.5820T>C (p.Ser1940=) c.5697T>C (p.Ser1899=) c.5853T>C (p.Ser1951=) | |
12 | g.51807306T>G | CA480062367 | SCN8A | c.5820T>G (p.Ser1940=) c.5697T>G (p.Ser1899=) c.5853T>G (p.Ser1951=) | |
12 | g.51807307A>C | CA384889676 | SCN8A | c.5821A>C (p.Thr1941Pro) c.5698A>C (p.Thr1900Pro) c.5854A>C (p.Thr1952Pro) | |
12 | g.51807307A>G | CA384889678 | SCN8A | c.5821A>G (p.Thr1941Ala) c.5698A>G (p.Thr1900Ala) c.5854A>G (p.Thr1952Ala) | |
12 | g.51807307A>T | CA384889681 | SCN8A | c.5821A>T (p.Thr1941Ser) c.5698A>T (p.Thr1900Ser) c.5854A>T (p.Thr1952Ser) | |
12 | g.51807308C>A | CA384889683 | SCN8A | c.5822C>A (p.Thr1941Lys) c.5699C>A (p.Thr1900Lys) c.5855C>A (p.Thr1952Lys) | |
12 | g.51807308C>G | CA384889686 | SCN8A | c.5822C>G (p.Thr1941Arg) c.5699C>G (p.Thr1900Arg) c.5855C>G (p.Thr1952Arg) | |
12 | g.51807308C>T | CA384889687 | SCN8A | c.5822C>T (p.Thr1941Ile) c.5699C>T (p.Thr1900Ile) c.5855C>T (p.Thr1952Ile) | |
12 | g.51807309del | CA2573148738 | SCN8A | c.5823del (p.Ala1942ProfsTer9) c.5700del (p.Ala1901ProfsTer9) c.5856del (p.Ala1953ProfsTer9) | ClinVar dbSNP |
12 | g.51807309A>C | CA480062368 | SCN8A | c.5823A>C (p.Thr1941=) c.5700A>C (p.Thr1900=) c.5856A>C (p.Thr1952=) | ClinVar |
12 | g.51807309A>G | CA480062369 | SCN8A | c.5823A>G (p.Thr1941=) c.5700A>G (p.Thr1900=) c.5856A>G (p.Thr1952=) | |
12 | g.51807309A>T | CA480062370 | SCN8A | c.5823A>T (p.Thr1941=) c.5700A>T (p.Thr1900=) c.5856A>T (p.Thr1952=) | |
12 | g.51807310G>A | CA384889688 | SCN8A | c.5824G>A (p.Ala1942Thr) c.5701G>A (p.Ala1901Thr) c.5857G>A (p.Ala1953Thr) | |
12 | g.51807310G>C | CA384889689 | SCN8A | c.5824G>C (p.Ala1942Pro) c.5701G>C (p.Ala1901Pro) c.5857G>C (p.Ala1953Pro) | |
12 | g.51807310G>T | CA384889691 | SCN8A | c.5824G>T (p.Ala1942Ser) c.5701G>T (p.Ala1901Ser) c.5857G>T (p.Ala1953Ser) | |
12 | g.51807311C>A | CA384889695 | SCN8A | c.5825C>A (p.Ala1942Asp) c.5702C>A (p.Ala1901Asp) c.5858C>A (p.Ala1953Asp) | |
12 | g.51807311C= | CA2036195036 | SCN8A | c.5825C= (p.Ala1942=) c.5702C= (p.Ala1901=) c.5858C= (p.Ala1953=) | |
12 | g.51807311C>G | CA384889700 | SCN8A | c.5825C>G (p.Ala1942Gly) c.5702C>G (p.Ala1901Gly) c.5858C>G (p.Ala1953Gly) | COSMIC COSMIC |
12 | g.51807311C>T | CA236327893 | SCN8A | c.5825C>T (p.Ala1942Val) c.5702C>T (p.Ala1901Val) c.5858C>T (p.Ala1953Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807312C>A | CA480062375 | SCN8A | c.5826C>A (p.Ala1942=) c.5703C>A (p.Ala1901=) c.5859C>A (p.Ala1953=) | |
12 | g.51807312C= | CA2036195039 | SCN8A | c.5826C= (p.Ala1942=) c.5703C= (p.Ala1901=) c.5859C= (p.Ala1953=) | |
12 | g.51807312C>G | CA6571958 | SCN8A | c.5826C>G (p.Ala1942=) c.5703C>G (p.Ala1901=) c.5859C>G (p.Ala1953=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807312C>T | CA480062377 | SCN8A | c.5826C>T (p.Ala1942=) c.5703C>T (p.Ala1901=) c.5859C>T (p.Ala1953=) | gnomAD v4 |
12 | g.51807313T>A | CA384889704 | SCN8A | c.5827T>A (p.Ser1943Thr) c.5704T>A (p.Ser1902Thr) c.5860T>A (p.Ser1954Thr) | |
12 | g.51807313T>C | CA384889724 | SCN8A | c.5827T>C (p.Ser1943Pro) c.5704T>C (p.Ser1902Pro) c.5860T>C (p.Ser1954Pro) | |
12 | g.51807313T>G | CA384889726 | SCN8A | c.5827T>G (p.Ser1943Ala) c.5704T>G (p.Ser1902Ala) c.5860T>G (p.Ser1954Ala) | |
12 | g.51807314C>A | CA384889734 | SCN8A | c.5828C>A (p.Ser1943Tyr) c.5705C>A (p.Ser1902Tyr) c.5861C>A (p.Ser1954Tyr) | |
12 | g.51807314C>G | CA384889736 | SCN8A | c.5828C>G (p.Ser1943Cys) c.5705C>G (p.Ser1902Cys) c.5861C>G (p.Ser1954Cys) | |
12 | g.51807314C>T | CA384889746 | SCN8A | c.5828C>T (p.Ser1943Phe) c.5705C>T (p.Ser1902Phe) c.5861C>T (p.Ser1954Phe) | |
12 | g.51807314_51807315delinsTT | CA645591096 | SCN8A | c.5828_5829delinsTT (p.Ser1943Phe) c.5705_5706delinsTT (p.Ser1902Phe) c.5861_5862delinsTT (p.Ser1954Phe) | COSMIC COSMIC |
12 | g.51807315C>A | CA480062384 | SCN8A | c.5829C>A (p.Ser1943=) c.5706C>A (p.Ser1902=) c.5862C>A (p.Ser1954=) | |
12 | g.51807315C>G | CA480062385 | SCN8A | c.5829C>G (p.Ser1943=) c.5706C>G (p.Ser1902=) c.5862C>G (p.Ser1954=) | |
12 | g.51807315C>T | CA480062386 | SCN8A | c.5829C>T (p.Ser1943=) c.5706C>T (p.Ser1902=) c.5862C>T (p.Ser1954=) | COSMIC COSMIC |
12 | g.51807316C>A | CA384889750 | SCN8A | c.5830C>A (p.Leu1944Ile) c.5707C>A (p.Leu1903Ile) c.5863C>A (p.Leu1955Ile) | |
12 | g.51807316C>G | CA384889751 | SCN8A | c.5830C>G (p.Leu1944Val) c.5707C>G (p.Leu1903Val) c.5863C>G (p.Leu1955Val) | |
12 | g.51807316C>T | CA384889752 | SCN8A | c.5830C>T (p.Leu1944Phe) c.5707C>T (p.Leu1903Phe) c.5863C>T (p.Leu1955Phe) | gnomAD v4 |
12 | g.51807317T>A | CA384889753 | SCN8A | c.5831T>A (p.Leu1944His) c.5708T>A (p.Leu1903His) c.5864T>A (p.Leu1955His) | |
12 | g.51807317T>C | CA384889754 | SCN8A | c.5831T>C (p.Leu1944Pro) c.5708T>C (p.Leu1903Pro) c.5864T>C (p.Leu1955Pro) | |
12 | g.51807317T>G | CA384889755 | SCN8A | c.5831T>G (p.Leu1944Arg) c.5708T>G (p.Leu1903Arg) c.5864T>G (p.Leu1955Arg) | |
12 | g.51807318C>A | CA480062391 | SCN8A | c.5832C>A (p.Leu1944=) c.5709C>A (p.Leu1903=) c.5865C>A (p.Leu1955=) | gnomAD v4 |
12 | g.51807318C= | CA2036195041 | SCN8A | c.5832C= (p.Leu1944=) c.5709C= (p.Leu1903=) c.5865C= (p.Leu1955=) | |
12 | g.51807318C>G | CA480062393 | SCN8A | c.5832C>G (p.Leu1944=) c.5709C>G (p.Leu1903=) c.5865C>G (p.Leu1955=) | gnomAD v4 |
12 | g.51807318C>T | CA480062394 | SCN8A | c.5832C>T (p.Leu1944=) c.5709C>T (p.Leu1903=) c.5865C>T (p.Leu1955=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807319C>A | CA384889765 | SCN8A | c.5833C>A (p.Pro1945Thr) c.5710C>A (p.Pro1904Thr) c.5866C>A (p.Pro1956Thr) | |
12 | g.51807319C>G | CA384889761 | SCN8A | c.5833C>G (p.Pro1945Ala) c.5710C>G (p.Pro1904Ala) c.5866C>G (p.Pro1956Ala) | |
12 | g.51807319C>T | CA384889757 | SCN8A | c.5833C>T (p.Pro1945Ser) c.5710C>T (p.Pro1904Ser) c.5866C>T (p.Pro1956Ser) | |
12 | g.51807320C>A | CA384889780 | SCN8A | c.5834C>A (p.Pro1945Gln) c.5711C>A (p.Pro1904Gln) c.5867C>A (p.Pro1956Gln) | |
12 | g.51807320C= | CA2036195044 | SCN8A | c.5834C= (p.Pro1945=) c.5711C= (p.Pro1904=) c.5867C= (p.Pro1956=) | |
12 | g.51807320C>G | CA384889782 | SCN8A | c.5834C>G (p.Pro1945Arg) c.5711C>G (p.Pro1904Arg) c.5867C>G (p.Pro1956Arg) | gnomAD v4 |
12 | g.51807320C>T | CA6571959 | SCN8A | c.5834C>T (p.Pro1945Leu) c.5711C>T (p.Pro1904Leu) c.5867C>T (p.Pro1956Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807321G>A | CA6571960 | SCN8A | c.5835G>A (p.Pro1945=) c.5712G>A (p.Pro1904=) c.5868G>A (p.Pro1956=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807321G>C | CA480062397 | SCN8A | c.5835G>C (p.Pro1945=) c.5712G>C (p.Pro1904=) c.5868G>C (p.Pro1956=) | |
12 | g.51807321G= | CA2036195047 | SCN8A | c.5835G= (p.Pro1945=) c.5712G= (p.Pro1904=) c.5868G= (p.Pro1956=) | |
12 | g.51807321G>T | CA480062396 | SCN8A | c.5835G>T (p.Pro1945=) c.5712G>T (p.Pro1904=) c.5868G>T (p.Pro1956=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807322T>A | CA6571961 | SCN8A | c.5836T>A (p.Ser1946Thr) c.5713T>A (p.Ser1905Thr) c.5869T>A (p.Ser1957Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807322T>C | CA384889787 | SCN8A | c.5836T>C (p.Ser1946Pro) c.5713T>C (p.Ser1905Pro) c.5869T>C (p.Ser1957Pro) | |
12 | g.51807322T>G | CA384889788 | SCN8A | c.5836T>G (p.Ser1946Ala) c.5713T>G (p.Ser1905Ala) c.5869T>G (p.Ser1957Ala) | |
12 | g.51807322T= | CA2036195050 | SCN8A | c.5836T= (p.Ser1946=) c.5713T= (p.Ser1905=) c.5869T= (p.Ser1957=) | |
12 | g.51807323C>A | CA384889792 | SCN8A | c.5837C>A (p.Ser1946Tyr) c.5714C>A (p.Ser1905Tyr) c.5870C>A (p.Ser1957Tyr) | |
12 | g.51807323C>G | CA384889794 | SCN8A | c.5837C>G (p.Ser1946Cys) c.5714C>G (p.Ser1905Cys) c.5870C>G (p.Ser1957Cys) | |
12 | g.51807323C>T | CA384889797 | SCN8A | c.5837C>T (p.Ser1946Phe) c.5714C>T (p.Ser1905Phe) c.5870C>T (p.Ser1957Phe) | |
12 | g.51807324C>A | CA480062403 | SCN8A | c.5838C>A (p.Ser1946=) c.5715C>A (p.Ser1905=) c.5871C>A (p.Ser1957=) | |
12 | g.51807324C= | CA2036195052 | SCN8A | c.5838C= (p.Ser1946=) c.5715C= (p.Ser1905=) c.5871C= (p.Ser1957=) | |
12 | g.51807324C>G | CA480062402 | SCN8A | c.5838C>G (p.Ser1946=) c.5715C>G (p.Ser1905=) c.5871C>G (p.Ser1957=) | |
12 | g.51807324C>T | CA6571962 | SCN8A | c.5838C>T (p.Ser1946=) c.5715C>T (p.Ser1905=) c.5871C>T (p.Ser1957=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807325T>A | CA384889811 | SCN8A | c.5839T>A (p.Tyr1947Asn) c.5716T>A (p.Tyr1906Asn) c.5872T>A (p.Tyr1958Asn) | |
12 | g.51807325T>C | CA384889814 | SCN8A | c.5839T>C (p.Tyr1947His) c.5716T>C (p.Tyr1906His) c.5872T>C (p.Tyr1958His) | |
12 | g.51807325T>G | CA384889822 | SCN8A | c.5839T>G (p.Tyr1947Asp) c.5716T>G (p.Tyr1906Asp) c.5872T>G (p.Tyr1958Asp) | gnomAD v4 |
12 | g.51807326A>C | CA384889837 | SCN8A | c.5840A>C (p.Tyr1947Ser) c.5717A>C (p.Tyr1906Ser) c.5873A>C (p.Tyr1958Ser) | |
12 | g.51807326A>G | CA384889830 | SCN8A | c.5840A>G (p.Tyr1947Cys) c.5717A>G (p.Tyr1906Cys) c.5873A>G (p.Tyr1958Cys) | ClinVar |
12 | g.51807326A>T | CA384889826 | SCN8A | c.5840A>T (p.Tyr1947Phe) c.5717A>T (p.Tyr1906Phe) c.5873A>T (p.Tyr1958Phe) | |
12 | g.51807327T>A | CA384889840 | SCN8A | c.5841T>A (p.Tyr1947Ter) c.5718T>A (p.Tyr1906Ter) c.5874T>A (p.Tyr1958Ter) | |
12 | g.51807327T>C | CA480062410 | SCN8A | c.5841T>C (p.Tyr1947=) c.5718T>C (p.Tyr1906=) c.5874T>C (p.Tyr1958=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807327T>G | CA384889841 | SCN8A | c.5841T>G (p.Tyr1947Ter) c.5718T>G (p.Tyr1906Ter) c.5874T>G (p.Tyr1958Ter) | |
12 | g.51807327T= | CA2036195062 | SCN8A | c.5841T= (p.Tyr1947=) c.5718T= (p.Tyr1906=) c.5874T= (p.Tyr1958=) | |
12 | g.51807328G>A | CA384889842 | SCN8A | c.5842G>A (p.Asp1948Asn) c.5719G>A (p.Asp1907Asn) c.5875G>A (p.Asp1959Asn) | |
12 | g.51807328G>C | CA384889843 | SCN8A | c.5842G>C (p.Asp1948His) c.5719G>C (p.Asp1907His) c.5875G>C (p.Asp1959His) | COSMIC COSMIC |
12 | g.51807328G>T | CA384889846 | SCN8A | c.5842G>T (p.Asp1948Tyr) c.5719G>T (p.Asp1907Tyr) c.5875G>T (p.Asp1959Tyr) | |
12 | g.51807329A>C | CA384889851 | SCN8A | c.5843A>C (p.Asp1948Ala) c.5720A>C (p.Asp1907Ala) c.5876A>C (p.Asp1959Ala) | gnomAD v4 |
12 | g.51807329A>G | CA384889856 | SCN8A | c.5843A>G (p.Asp1948Gly) c.5720A>G (p.Asp1907Gly) c.5876A>G (p.Asp1959Gly) | |
12 | g.51807329A>T | CA384889858 | SCN8A | c.5843A>T (p.Asp1948Val) c.5720A>T (p.Asp1907Val) c.5876A>T (p.Asp1959Val) | |
12 | g.51807330C>A | CA384889861 | SCN8A | c.5844C>A (p.Asp1948Glu) c.5721C>A (p.Asp1907Glu) c.5877C>A (p.Asp1959Glu) | |
12 | g.51807330C>G | CA384889864 | SCN8A | c.5844C>G (p.Asp1948Glu) c.5721C>G (p.Asp1907Glu) c.5877C>G (p.Asp1959Glu) | |
12 | g.51807330C>T | CA480062413 | SCN8A | c.5844C>T (p.Asp1948=) c.5721C>T (p.Asp1907=) c.5877C>T (p.Asp1959=) | gnomAD v4 |
12 | g.51807331A>C | CA384889869 | SCN8A | c.5845A>C (p.Ser1949Arg) c.5722A>C (p.Ser1908Arg) c.5878A>C (p.Ser1960Arg) | |
12 | g.51807331A>G | CA384889872 | SCN8A | c.5845A>G (p.Ser1949Gly) c.5722A>G (p.Ser1908Gly) c.5878A>G (p.Ser1960Gly) | |
12 | g.51807331A>T | CA384889876 | SCN8A | c.5845A>T (p.Ser1949Cys) c.5722A>T (p.Ser1908Cys) c.5878A>T (p.Ser1960Cys) | |
12 | g.51807332G>A | CA384889887 | SCN8A | c.5846G>A (p.Ser1949Asn) c.5723G>A (p.Ser1908Asn) c.5879G>A (p.Ser1960Asn) | dbSNP gnomAD v2 |
12 | g.51807332G>C | CA384889877 | SCN8A | c.5846G>C (p.Ser1949Thr) c.5723G>C (p.Ser1908Thr) c.5879G>C (p.Ser1960Thr) | |
12 | g.51807332G= | CA2036195065 | SCN8A | c.5846G= (p.Ser1949=) c.5723G= (p.Ser1908=) c.5879G= (p.Ser1960=) | |
12 | g.51807332G>T | CA384889878 | SCN8A | c.5846G>T (p.Ser1949Ile) c.5723G>T (p.Ser1908Ile) c.5879G>T (p.Ser1960Ile) | |
12 | g.51807333T>A | CA384889892 | SCN8A | c.5847T>A (p.Ser1949Arg) c.5724T>A (p.Ser1908Arg) c.5880T>A (p.Ser1960Arg) | |
12 | g.51807333T>C | CA6571963 | SCN8A | c.5847T>C (p.Ser1949=) c.5724T>C (p.Ser1908=) c.5880T>C (p.Ser1960=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807333T>G | CA384889895 | SCN8A | c.5847T>G (p.Ser1949Arg) c.5724T>G (p.Ser1908Arg) c.5880T>G (p.Ser1960Arg) | |
12 | g.51807333T= | CA2036195071 | SCN8A | c.5847T= (p.Ser1949=) c.5724T= (p.Ser1908=) c.5880T= (p.Ser1960=) | |
12 | g.51807334G>A | CA384889896 | SCN8A | c.5848G>A (p.Val1950Ile) c.5725G>A (p.Val1909Ile) c.5881G>A (p.Val1961Ile) | ClinVar gnomAD v4 |
12 | g.51807334G>C | CA384889897 | SCN8A | c.5848G>C (p.Val1950Leu) c.5725G>C (p.Val1909Leu) c.5881G>C (p.Val1961Leu) | |
12 | g.51807334G>T | CA384889899 | SCN8A | c.5848G>T (p.Val1950Leu) c.5725G>T (p.Val1909Leu) c.5881G>T (p.Val1961Leu) | |
12 | g.51807335T>A | CA384889903 | SCN8A | c.5849T>A (p.Val1950Glu) c.5726T>A (p.Val1909Glu) c.5882T>A (p.Val1961Glu) | |
12 | g.51807335T>C | CA384889907 | SCN8A | c.5849T>C (p.Val1950Ala) c.5726T>C (p.Val1909Ala) c.5882T>C (p.Val1961Ala) | |
12 | g.51807335T>G | CA384889910 | SCN8A | c.5849T>G (p.Val1950Gly) c.5726T>G (p.Val1909Gly) c.5882T>G (p.Val1961Gly) | |
12 | g.51807336A= | CA2036195078 | SCN8A | c.5850A= (p.Val1950=) c.5727A= (p.Val1909=) c.5883A= (p.Val1961=) | |
12 | g.51807336A>C | CA480062427 | SCN8A | c.5850A>C (p.Val1950=) c.5727A>C (p.Val1909=) c.5883A>C (p.Val1961=) | |
12 | g.51807336A>G | CA480062430 | SCN8A | c.5850A>G (p.Val1950=) c.5727A>G (p.Val1909=) c.5883A>G (p.Val1961=) | dbSNP gnomAD v2 |
12 | g.51807336A>T | CA480062429 | SCN8A | c.5850A>T (p.Val1950=) c.5727A>T (p.Val1909=) c.5883A>T (p.Val1961=) |