Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51807187_51807197dup | CA2618842275 | SCN8A | c.5701_5711dup (p.Ala1905SerfsTer?) c.5578_5588dup (p.Ala1864SerfsTer?) c.5734_5744dup (p.Ala1916SerfsTer?) | gnomAD v4 |
12 | g.51807197G>A | CA6571942 | SCN8A | c.5711G>A (p.Arg1904His) c.5588G>A (p.Arg1863His) c.5744G>A (p.Arg1915His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.51807197G>C | CA384888760 | SCN8A | c.5711G>C (p.Arg1904Pro) c.5588G>C (p.Arg1863Pro) c.5744G>C (p.Arg1915Pro) | |
12 | g.51807197G= | CA2036194827 | SCN8A | c.5711G= (p.Arg1904=) c.5588G= (p.Arg1863=) c.5744G= (p.Arg1915=) | |
12 | g.51807197G>T | CA384888763 | SCN8A | c.5711G>T (p.Arg1904Leu) c.5588G>T (p.Arg1863Leu) c.5744G>T (p.Arg1915Leu) | |
12 | g.51807198T>A | CA480062280 | SCN8A | c.5712T>A (p.Arg1904=) c.5589T>A (p.Arg1863=) c.5745T>A (p.Arg1915=) | |
12 | g.51807198T>C | CA480062281 | SCN8A | c.5712T>C (p.Arg1904=) c.5589T>C (p.Arg1863=) c.5745T>C (p.Arg1915=) | |
12 | g.51807198T>G | CA480062282 | SCN8A | c.5712T>G (p.Arg1904=) c.5589T>G (p.Arg1863=) c.5745T>G (p.Arg1915=) | |
12 | g.51807199G>A | CA384888767 | SCN8A | c.5713G>A (p.Ala1905Thr) c.5590G>A (p.Ala1864Thr) c.5746G>A (p.Ala1916Thr) | ClinVar |
12 | g.51807199G>C | CA384888771 | SCN8A | c.5713G>C (p.Ala1905Pro) c.5590G>C (p.Ala1864Pro) c.5746G>C (p.Ala1916Pro) | |
12 | g.51807199G= | CA2036194830 | SCN8A | c.5713G= (p.Ala1905=) c.5590G= (p.Ala1864=) c.5746G= (p.Ala1916=) | |
12 | g.51807199G>T | CA384888784 | SCN8A | c.5713G>T (p.Ala1905Ser) c.5590G>T (p.Ala1864Ser) c.5746G>T (p.Ala1916Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807200C>A | CA384888807 | SCN8A | c.5714C>A (p.Ala1905Asp) c.5591C>A (p.Ala1864Asp) c.5747C>A (p.Ala1916Asp) | |
12 | g.51807200C>G | CA384888806 | SCN8A | c.5714C>G (p.Ala1905Gly) c.5591C>G (p.Ala1864Gly) c.5747C>G (p.Ala1916Gly) | gnomAD v4 |
12 | g.51807200C>T | CA384888798 | SCN8A | c.5714C>T (p.Ala1905Val) c.5591C>T (p.Ala1864Val) c.5747C>T (p.Ala1916Val) | |
12 | g.51807201C>A | CA480062283 | SCN8A | c.5715C>A (p.Ala1905=) c.5592C>A (p.Ala1864=) c.5748C>A (p.Ala1916=) | |
12 | g.51807201C>G | CA480062285 | SCN8A | c.5715C>G (p.Ala1905=) c.5592C>G (p.Ala1864=) c.5748C>G (p.Ala1916=) | |
12 | g.51807201C>T | CA480062286 | SCN8A | c.5715C>T (p.Ala1905=) c.5592C>T (p.Ala1864=) c.5748C>T (p.Ala1916=) | |
12 | g.51807202T>A | CA384888813 | SCN8A | c.5716T>A (p.Tyr1906Asn) c.5593T>A (p.Tyr1865Asn) c.5749T>A (p.Tyr1917Asn) | |
12 | g.51807202T>C | CA384888816 | SCN8A | c.5716T>C (p.Tyr1906His) c.5593T>C (p.Tyr1865His) c.5749T>C (p.Tyr1917His) | |
12 | g.51807202T>G | CA384888820 | SCN8A | c.5716T>G (p.Tyr1906Asp) c.5593T>G (p.Tyr1865Asp) c.5749T>G (p.Tyr1917Asp) | |
12 | g.51807203A>C | CA384888823 | SCN8A | c.5717A>C (p.Tyr1906Ser) c.5594A>C (p.Tyr1865Ser) c.5750A>C (p.Tyr1917Ser) | |
12 | g.51807203A>G | CA384888826 | SCN8A | c.5717A>G (p.Tyr1906Cys) c.5594A>G (p.Tyr1865Cys) c.5750A>G (p.Tyr1917Cys) | |
12 | g.51807203A>T | CA384888829 | SCN8A | c.5717A>T (p.Tyr1906Phe) c.5594A>T (p.Tyr1865Phe) c.5750A>T (p.Tyr1917Phe) | |
12 | g.51807204C>A | CA384888842 | SCN8A | c.5718C>A (p.Tyr1906Ter) c.5595C>A (p.Tyr1865Ter) c.5751C>A (p.Tyr1917Ter) | |
12 | g.51807204C= | CA2036194833 | SCN8A | c.5718C= (p.Tyr1906=) c.5595C= (p.Tyr1865=) c.5751C= (p.Tyr1917=) | |
12 | g.51807204C>G | CA384888835 | SCN8A | c.5718C>G (p.Tyr1906Ter) c.5595C>G (p.Tyr1865Ter) c.5751C>G (p.Tyr1917Ter) | |
12 | g.51807204C>T | CA236327797 | SCN8A | c.5718C>T (p.Tyr1906=) c.5595C>T (p.Tyr1865=) c.5751C>T (p.Tyr1917=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807205C>A | CA480062294 | SCN8A | c.5719C>A (p.Arg1907=) c.5596C>A (p.Arg1866=) c.5752C>A (p.Arg1918=) | gnomAD v4 |
12 | g.51807205C= | CA2036194834 | SCN8A | c.5719C= (p.Arg1907=) c.5596C= (p.Arg1866=) c.5752C= (p.Arg1918=) | |
12 | g.51807205C>G | CA384888859 | SCN8A | c.5719C>G (p.Arg1907Gly) c.5596C>G (p.Arg1866Gly) c.5752C>G (p.Arg1918Gly) | gnomAD v4 |
12 | g.51807205C>T | CA6571943 | SCN8A | c.5719C>T (p.Arg1907Trp) c.5596C>T (p.Arg1866Trp) c.5752C>T (p.Arg1918Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807206G>A | CA384888867 | SCN8A | c.5720G>A (p.Arg1907Gln) c.5597G>A (p.Arg1866Gln) c.5753G>A (p.Arg1918Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807206G>C | CA384888885 | SCN8A | c.5720G>C (p.Arg1907Pro) c.5597G>C (p.Arg1866Pro) c.5753G>C (p.Arg1918Pro) | |
12 | g.51807206G= | CA2036194838 | SCN8A | c.5720G= (p.Arg1907=) c.5597G= (p.Arg1866=) c.5753G= (p.Arg1918=) | |
12 | g.51807206G>T | CA384888887 | SCN8A | c.5720G>T (p.Arg1907Leu) c.5597G>T (p.Arg1866Leu) c.5753G>T (p.Arg1918Leu) | |
12 | g.51807207G>A | CA6571944 | SCN8A | c.5721G>A (p.Arg1907=) c.5598G>A (p.Arg1866=) c.5754G>A (p.Arg1918=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807207G>C | CA480062297 | SCN8A | c.5721G>C (p.Arg1907=) c.5598G>C (p.Arg1866=) c.5754G>C (p.Arg1918=) | |
12 | g.51807207G= | CA2036194841 | SCN8A | c.5721G= (p.Arg1907=) c.5598G= (p.Arg1866=) c.5754G= (p.Arg1918=) | |
12 | g.51807207G>T | CA480062295 | SCN8A | c.5721G>T (p.Arg1907=) c.5598G>T (p.Arg1866=) c.5754G>T (p.Arg1918=) | |
12 | g.51807208G>A | CA6571945 | SCN8A | c.5722G>A (p.Gly1908Arg) c.5599G>A (p.Gly1867Arg) c.5755G>A (p.Gly1919Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807208G>C | CA384888909 | SCN8A | c.5722G>C (p.Gly1908Arg) c.5599G>C (p.Gly1867Arg) c.5755G>C (p.Gly1919Arg) | |
12 | g.51807208G= | CA2036194842 | SCN8A | c.5722G= (p.Gly1908=) c.5599G= (p.Gly1867=) c.5755G= (p.Gly1919=) | |
12 | g.51807208G>T | CA384888913 | SCN8A | c.5722G>T (p.Gly1908Ter) c.5599G>T (p.Gly1867Ter) c.5755G>T (p.Gly1919Ter) | dbSNP |
12 | g.51807209G>A | CA384888921 | SCN8A | c.5723G>A (p.Gly1908Glu) c.5600G>A (p.Gly1867Glu) c.5756G>A (p.Gly1919Glu) | |
12 | g.51807209G>C | CA384888926 | SCN8A | c.5723G>C (p.Gly1908Ala) c.5600G>C (p.Gly1867Ala) c.5756G>C (p.Gly1919Ala) | |
12 | g.51807209G>T | CA384888931 | SCN8A | c.5723G>T (p.Gly1908Val) c.5600G>T (p.Gly1867Val) c.5756G>T (p.Gly1919Val) | |
12 | g.51807210A>C | CA480062302 | SCN8A | c.5724A>C (p.Gly1908=) c.5601A>C (p.Gly1867=) c.5757A>C (p.Gly1919=) | |
12 | g.51807210A>G | CA480062304 | SCN8A | c.5724A>G (p.Gly1908=) c.5601A>G (p.Gly1867=) c.5757A>G (p.Gly1919=) | |
12 | g.51807210A>T | CA480062306 | SCN8A | c.5724A>T (p.Gly1908=) c.5601A>T (p.Gly1867=) c.5757A>T (p.Gly1919=) | |
12 | g.51807211C>A | CA384888934 | SCN8A | c.5725C>A (p.His1909Asn) c.5602C>A (p.His1868Asn) c.5758C>A (p.His1920Asn) | |
12 | g.51807211C= | CA2036194848 | SCN8A | c.5725C= (p.His1909=) c.5602C= (p.His1868=) c.5758C= (p.His1920=) | |
12 | g.51807211C>G | CA384888936 | SCN8A | c.5725C>G (p.His1909Asp) c.5602C>G (p.His1868Asp) c.5758C>G (p.His1920Asp) | |
12 | g.51807211C>T | CA6571946 | SCN8A | c.5725C>T (p.His1909Tyr) c.5602C>T (p.His1868Tyr) c.5758C>T (p.His1920Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807212A= | CA2036194853 | SCN8A | c.5726A= (p.His1909=) c.5603A= (p.His1868=) c.5759A= (p.His1920=) | |
12 | g.51807212A>C | CA384888941 | SCN8A | c.5726A>C (p.His1909Pro) c.5603A>C (p.His1868Pro) c.5759A>C (p.His1920Pro) | |
12 | g.51807212A>G | CA384888942 | SCN8A | c.5726A>G (p.His1909Arg) c.5603A>G (p.His1868Arg) c.5759A>G (p.His1920Arg) | dbSNP gnomAD v4 |
12 | g.51807212A>T | CA384888945 | SCN8A | c.5726A>T (p.His1909Leu) c.5603A>T (p.His1868Leu) c.5759A>T (p.His1920Leu) | |
12 | g.51807213T>A | CA384888948 | SCN8A | c.5727T>A (p.His1909Gln) c.5604T>A (p.His1868Gln) c.5760T>A (p.His1920Gln) | |
12 | g.51807213T>C | CA480062310 | SCN8A | c.5727T>C (p.His1909=) c.5604T>C (p.His1868=) c.5760T>C (p.His1920=) | |
12 | g.51807213T>G | CA384888950 | SCN8A | c.5727T>G (p.His1909Gln) c.5604T>G (p.His1868Gln) c.5760T>G (p.His1920Gln) | |
12 | g.51807214T>A | CA384888953 | SCN8A | c.5728T>A (p.Leu1910Met) c.5605T>A (p.Leu1869Met) c.5761T>A (p.Leu1921Met) | |
12 | g.51807214T>C | CA480062311 | SCN8A | c.5728T>C (p.Leu1910=) c.5605T>C (p.Leu1869=) c.5761T>C (p.Leu1921=) | |
12 | g.51807214T>G | CA384888957 | SCN8A | c.5728T>G (p.Leu1910Val) c.5605T>G (p.Leu1869Val) c.5761T>G (p.Leu1921Val) | |
12 | g.51807215T>A | CA384888983 | SCN8A | c.5729T>A (p.Leu1910Ter) c.5606T>A (p.Leu1869Ter) c.5762T>A (p.Leu1921Ter) | dbSNP |
12 | g.51807215T>C | CA384888961 | SCN8A | c.5729T>C (p.Leu1910Ser) c.5606T>C (p.Leu1869Ser) c.5762T>C (p.Leu1921Ser) | |
12 | g.51807215T>G | CA384888964 | SCN8A | c.5729T>G (p.Leu1910Trp) c.5606T>G (p.Leu1869Trp) c.5762T>G (p.Leu1921Trp) | |
12 | g.51807215T= | CA2036194858 | SCN8A | c.5729T= (p.Leu1910=) c.5606T= (p.Leu1869=) c.5762T= (p.Leu1921=) | |
12 | g.51807216G>A | CA480062106 | SCN8A | c.5730G>A (p.Leu1910=) c.5607G>A (p.Leu1869=) c.5763G>A (p.Leu1921=) | |
12 | g.51807216G>C | CA384888988 | SCN8A | c.5730G>C (p.Leu1910Phe) c.5607G>C (p.Leu1869Phe) c.5763G>C (p.Leu1921Phe) | |
12 | g.51807216G>T | CA384888992 | SCN8A | c.5730G>T (p.Leu1910Phe) c.5607G>T (p.Leu1869Phe) c.5763G>T (p.Leu1921Phe) | |
12 | g.51807217G>A | CA384888996 | SCN8A | c.5731G>A (p.Ala1911Thr) c.5608G>A (p.Ala1870Thr) c.5764G>A (p.Ala1922Thr) | |
12 | g.51807217G>C | CA384889005 | SCN8A | c.5731G>C (p.Ala1911Pro) c.5608G>C (p.Ala1870Pro) c.5764G>C (p.Ala1922Pro) | |
12 | g.51807217G>T | CA384889008 | SCN8A | c.5731G>T (p.Ala1911Ser) c.5608G>T (p.Ala1870Ser) c.5764G>T (p.Ala1922Ser) | |
12 | g.51807218C>A | CA384889011 | SCN8A | c.5732C>A (p.Ala1911Glu) c.5609C>A (p.Ala1870Glu) c.5765C>A (p.Ala1922Glu) | |
12 | g.51807218C>G | CA384889012 | SCN8A | c.5732C>G (p.Ala1911Gly) c.5609C>G (p.Ala1870Gly) c.5765C>G (p.Ala1922Gly) | |
12 | g.51807218C>T | CA384889013 | SCN8A | c.5732C>T (p.Ala1911Val) c.5609C>T (p.Ala1870Val) c.5765C>T (p.Ala1922Val) | |
12 | g.51807219A>C | CA480062114 | SCN8A | c.5733A>C (p.Ala1911=) c.5610A>C (p.Ala1870=) c.5766A>C (p.Ala1922=) | |
12 | g.51807219A>G | CA480062115 | SCN8A | c.5733A>G (p.Ala1911=) c.5610A>G (p.Ala1870=) c.5766A>G (p.Ala1922=) | |
12 | g.51807219A>T | CA480062117 | SCN8A | c.5733A>T (p.Ala1911=) c.5610A>T (p.Ala1870=) c.5766A>T (p.Ala1922=) | |
12 | g.51807220A>C | CA480062118 | SCN8A | c.5734A>C (p.Arg1912=) c.5611A>C (p.Arg1871=) c.5767A>C (p.Arg1923=) | |
12 | g.51807220A>G | CA384889014 | SCN8A | c.5734A>G (p.Arg1912Gly) c.5611A>G (p.Arg1871Gly) c.5767A>G (p.Arg1923Gly) | |
12 | g.51807220A>T | CA384889015 | SCN8A | c.5734A>T (p.Arg1912Trp) c.5611A>T (p.Arg1871Trp) c.5767A>T (p.Arg1923Trp) | |
12 | g.51807221G>A | CA6571947 | SCN8A | c.5735G>A (p.Arg1912Lys) c.5612G>A (p.Arg1871Lys) c.5768G>A (p.Arg1923Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807221G>C | CA384889019 | SCN8A | c.5735G>C (p.Arg1912Thr) c.5612G>C (p.Arg1871Thr) c.5768G>C (p.Arg1923Thr) | |
12 | g.51807221G= | CA2036194861 | SCN8A | c.5735G= (p.Arg1912=) c.5612G= (p.Arg1871=) c.5768G= (p.Arg1923=) | |
12 | g.51807221G>T | CA384889023 | SCN8A | c.5735G>T (p.Arg1912Met) c.5612G>T (p.Arg1871Met) c.5768G>T (p.Arg1923Met) | |
12 | g.51807222G>A | CA480062128 | SCN8A | c.5736G>A (p.Arg1912=) c.5613G>A (p.Arg1871=) c.5769G>A (p.Arg1923=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807222G>C | CA384889024 | SCN8A | c.5736G>C (p.Arg1912Ser) c.5613G>C (p.Arg1871Ser) c.5769G>C (p.Arg1923Ser) | |
12 | g.51807222G= | CA2036194864 | SCN8A | c.5736G= (p.Arg1912=) c.5613G= (p.Arg1871=) c.5769G= (p.Arg1923=) | |
12 | g.51807222G>T | CA384889025 | SCN8A | c.5736G>T (p.Arg1912Ser) c.5613G>T (p.Arg1871Ser) c.5769G>T (p.Arg1923Ser) | |
12 | g.51807223C>A | CA480062131 | SCN8A | c.5737C>A (p.Arg1913=) c.5614C>A (p.Arg1872=) c.5770C>A (p.Arg1924=) | |
12 | g.51807223C= | CA2036194871 | SCN8A | c.5737C= (p.Arg1913=) c.5614C= (p.Arg1872=) c.5770C= (p.Arg1924=) | |
12 | g.51807223C>G | CA384889026 | SCN8A | c.5737C>G (p.Arg1913Gly) c.5614C>G (p.Arg1872Gly) c.5770C>G (p.Arg1924Gly) | |
12 | g.51807223C>T | CA384889027 | SCN8A | c.5737C>T (p.Arg1913Trp) c.5614C>T (p.Arg1872Trp) c.5770C>T (p.Arg1924Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.51807224G>A | CA384889029 | SCN8A | c.5738G>A (p.Arg1913Gln) c.5615G>A (p.Arg1872Gln) c.5771G>A (p.Arg1924Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.51807224G>C | CA384889030 | SCN8A | c.5738G>C (p.Arg1913Pro) c.5615G>C (p.Arg1872Pro) c.5771G>C (p.Arg1924Pro) | |
12 | g.51807224G= | CA2036194874 | SCN8A | c.5738G= (p.Arg1913=) c.5615G= (p.Arg1872=) c.5771G= (p.Arg1924=) | |
12 | g.51807224G>T | CA384889032 | SCN8A | c.5738G>T (p.Arg1913Leu) c.5615G>T (p.Arg1872Leu) c.5771G>T (p.Arg1924Leu) | |
12 | g.51807225G>A | CA480062141 | SCN8A | c.5739G>A (p.Arg1913=) c.5616G>A (p.Arg1872=) c.5772G>A (p.Arg1924=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807225G>C | CA480062143 | SCN8A | c.5739G>C (p.Arg1913=) c.5616G>C (p.Arg1872=) c.5772G>C (p.Arg1924=) | |
12 | g.51807225G= | CA2036194879 | SCN8A | c.5739G= (p.Arg1913=) c.5616G= (p.Arg1872=) c.5772G= (p.Arg1924=) | |
12 | g.51807225G>T | CA480062144 | SCN8A | c.5739G>T (p.Arg1913=) c.5616G>T (p.Arg1872=) c.5772G>T (p.Arg1924=) | |
12 | g.51807226G>A | CA384889034 | SCN8A | c.5740G>A (p.Gly1914Ser) c.5617G>A (p.Gly1873Ser) c.5773G>A (p.Gly1925Ser) | ClinVar gnomAD v4 |
12 | g.51807226G>C | CA384889036 | SCN8A | c.5740G>C (p.Gly1914Arg) c.5617G>C (p.Gly1873Arg) c.5773G>C (p.Gly1925Arg) | |
12 | g.51807226G>T | CA384889039 | SCN8A | c.5740G>T (p.Gly1914Cys) c.5617G>T (p.Gly1873Cys) c.5773G>T (p.Gly1925Cys) | ClinVar dbSNP |
12 | g.51807227G>A | CA384889047 | SCN8A | c.5741G>A (p.Gly1914Asp) c.5618G>A (p.Gly1873Asp) c.5774G>A (p.Gly1925Asp) | ClinVar |
12 | g.51807227G>C | CA384889050 | SCN8A | c.5741G>C (p.Gly1914Ala) c.5618G>C (p.Gly1873Ala) c.5774G>C (p.Gly1925Ala) | |
12 | g.51807227G>T | CA384889052 | SCN8A | c.5741G>T (p.Gly1914Val) c.5618G>T (p.Gly1873Val) c.5774G>T (p.Gly1925Val) | |
12 | g.51807228C>A | CA480062153 | SCN8A | c.5742C>A (p.Gly1914=) c.5619C>A (p.Gly1873=) c.5775C>A (p.Gly1925=) | |
12 | g.51807228C>G | CA480062154 | SCN8A | c.5742C>G (p.Gly1914=) c.5619C>G (p.Gly1873=) c.5775C>G (p.Gly1925=) | |
12 | g.51807228C>T | CA480062155 | SCN8A | c.5742C>T (p.Gly1914=) c.5619C>T (p.Gly1873=) c.5775C>T (p.Gly1925=) | |
12 | g.51807229T>A | CA384889058 | SCN8A | c.5743T>A (p.Phe1915Ile) c.5620T>A (p.Phe1874Ile) c.5776T>A (p.Phe1926Ile) | |
12 | g.51807229T>C | CA384889060 | SCN8A | c.5743T>C (p.Phe1915Leu) c.5620T>C (p.Phe1874Leu) c.5776T>C (p.Phe1926Leu) | |
12 | g.51807229T>G | CA384889062 | SCN8A | c.5743T>G (p.Phe1915Val) c.5620T>G (p.Phe1874Val) c.5776T>G (p.Phe1926Val) | |
12 | g.51807230T>A | CA384889065 | SCN8A | c.5744T>A (p.Phe1915Tyr) c.5621T>A (p.Phe1874Tyr) c.5777T>A (p.Phe1926Tyr) | |
12 | g.51807230T>C | CA384889072 | SCN8A | c.5744T>C (p.Phe1915Ser) c.5621T>C (p.Phe1874Ser) c.5777T>C (p.Phe1926Ser) | ClinVar dbSNP |
12 | g.51807230T>G | CA384889068 | SCN8A | c.5744T>G (p.Phe1915Cys) c.5621T>G (p.Phe1874Cys) c.5777T>G (p.Phe1926Cys) | |
12 | g.51807231C>A | CA384889078 | SCN8A | c.5745C>A (p.Phe1915Leu) c.5622C>A (p.Phe1874Leu) c.5778C>A (p.Phe1926Leu) | |
12 | g.51807231C= | CA2036194881 | SCN8A | c.5745C= (p.Phe1915=) c.5622C= (p.Phe1874=) c.5778C= (p.Phe1926=) | |
12 | g.51807231C>G | CA384889082 | SCN8A | c.5745C>G (p.Phe1915Leu) c.5622C>G (p.Phe1874Leu) c.5778C>G (p.Phe1926Leu) | |
12 | g.51807231C>T | CA6571948 | SCN8A | c.5745C>T (p.Phe1915=) c.5622C>T (p.Phe1874=) c.5778C>T (p.Phe1926=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807232A>C | CA384889088 | SCN8A | c.5746A>C (p.Ile1916Leu) c.5623A>C (p.Ile1875Leu) c.5779A>C (p.Ile1927Leu) | dbSNP |
12 | g.51807232A>G | CA384889091 | SCN8A | c.5746A>G (p.Ile1916Val) c.5623A>G (p.Ile1875Val) c.5779A>G (p.Ile1927Val) | |
12 | g.51807232A>T | CA384889093 | SCN8A | c.5746A>T (p.Ile1916Phe) c.5623A>T (p.Ile1875Phe) c.5779A>T (p.Ile1927Phe) | |
12 | g.51807233T>A | CA384889097 | SCN8A | c.5747T>A (p.Ile1916Asn) c.5624T>A (p.Ile1875Asn) c.5780T>A (p.Ile1927Asn) | |
12 | g.51807233T>C | CA384889099 | SCN8A | c.5747T>C (p.Ile1916Thr) c.5624T>C (p.Ile1875Thr) c.5780T>C (p.Ile1927Thr) | |
12 | g.51807233T>G | CA384889100 | SCN8A | c.5747T>G (p.Ile1916Ser) c.5624T>G (p.Ile1875Ser) c.5780T>G (p.Ile1927Ser) | |
12 | g.51807234C>A | CA480062171 | SCN8A | c.5748C>A (p.Ile1916=) c.5625C>A (p.Ile1875=) c.5781C>A (p.Ile1927=) | |
12 | g.51807234C= | CA2036194883 | SCN8A | c.5748C= (p.Ile1916=) c.5625C= (p.Ile1875=) c.5781C= (p.Ile1927=) | |
12 | g.51807234C>G | CA384889104 | SCN8A | c.5748C>G (p.Ile1916Met) c.5625C>G (p.Ile1875Met) c.5781C>G (p.Ile1927Met) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807234C>T | CA480062173 | SCN8A | c.5748C>T (p.Ile1916=) c.5625C>T (p.Ile1875=) c.5781C>T (p.Ile1927=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807235T>A | CA384889105 | SCN8A | c.5749T>A (p.Cys1917Ser) c.5626T>A (p.Cys1876Ser) c.5782T>A (p.Cys1928Ser) | |
12 | g.51807235T>C | CA384889106 | SCN8A | c.5749T>C (p.Cys1917Arg) c.5626T>C (p.Cys1876Arg) c.5782T>C (p.Cys1928Arg) | |
12 | g.51807235T>G | CA384889108 | SCN8A | c.5749T>G (p.Cys1917Gly) c.5626T>G (p.Cys1876Gly) c.5782T>G (p.Cys1928Gly) | |
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=) |