Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51807125_51807126dup | CA2618842115 | SCN8A | c.5639_5640dup (p.Val1881LysfsTer?) c.5516_5517dup (p.Val1840LysfsTer?) c.5672_5673dup (p.Val1892LysfsTer?) | gnomAD v4 |
12 | g.51807125A= | CA2036194662 | SCN8A | c.5639A= (p.Lys1880=) c.5516A= (p.Lys1839=) c.5672A= (p.Lys1891=) | |
12 | g.51807125A>C | CA384888258 | SCN8A | c.5639A>C (p.Lys1880Thr) c.5516A>C (p.Lys1839Thr) c.5672A>C (p.Lys1891Thr) | ClinVar dbSNP |
12 | g.51807125A>G | CA384888260 | SCN8A | c.5639A>G (p.Lys1880Arg) c.5516A>G (p.Lys1839Arg) c.5672A>G (p.Lys1891Arg) | |
12 | g.51807125A>T | CA384888262 | SCN8A | c.5639A>T (p.Lys1880Ile) c.5516A>T (p.Lys1839Ile) c.5672A>T (p.Lys1891Ile) | |
12 | g.51807126A= | CA2036194673 | SCN8A | c.5640A= (p.Lys1880=) c.5517A= (p.Lys1839=) c.5673A= (p.Lys1891=) | |
12 | g.51807126A>C | CA384888264 | SCN8A | c.5640A>C (p.Lys1880Asn) c.5517A>C (p.Lys1839Asn) c.5673A>C (p.Lys1891Asn) | ClinVar dbSNP |
12 | g.51807126A>G | CA480062129 | SCN8A | c.5640A>G (p.Lys1880=) c.5517A>G (p.Lys1839=) c.5673A>G (p.Lys1891=) | gnomAD v4 |
12 | g.51807126A>T | CA384888267 | SCN8A | c.5640A>T (p.Lys1880Asn) c.5517A>T (p.Lys1839Asn) c.5673A>T (p.Lys1891Asn) | |
12 | g.51807127G>A | CA384888270 | SCN8A | c.5641G>A (p.Val1881Met) c.5518G>A (p.Val1840Met) c.5674G>A (p.Val1892Met) | |
12 | g.51807127G>C | CA384888274 | SCN8A | c.5641G>C (p.Val1881Leu) c.5518G>C (p.Val1840Leu) c.5674G>C (p.Val1892Leu) | |
12 | g.51807127G>T | CA384888276 | SCN8A | c.5641G>T (p.Val1881Leu) c.5518G>T (p.Val1840Leu) c.5674G>T (p.Val1892Leu) | |
12 | g.51807128T>A | CA384888280 | SCN8A | c.5642T>A (p.Val1881Glu) c.5519T>A (p.Val1840Glu) c.5675T>A (p.Val1892Glu) | |
12 | g.51807128T>C | CA384888282 | SCN8A | c.5642T>C (p.Val1881Ala) c.5519T>C (p.Val1840Ala) c.5675T>C (p.Val1892Ala) | ClinVar gnomAD v4 |
12 | g.51807128T>G | CA384888278 | SCN8A | c.5642T>G (p.Val1881Gly) c.5519T>G (p.Val1840Gly) c.5675T>G (p.Val1892Gly) | |
12 | g.51807129G>A | CA480062134 | SCN8A | c.5643G>A (p.Val1881=) c.5520G>A (p.Val1840=) c.5676G>A (p.Val1892=) | |
12 | g.51807129G>C | CA480062136 | SCN8A | c.5643G>C (p.Val1881=) c.5520G>C (p.Val1840=) c.5676G>C (p.Val1892=) | |
12 | g.51807129G>T | CA480062138 | SCN8A | c.5643G>T (p.Val1881=) c.5520G>T (p.Val1840=) c.5676G>T (p.Val1892=) | |
12 | g.51807130T>A | CA384888284 | SCN8A | c.5644T>A (p.Ser1882Thr) c.5521T>A (p.Ser1841Thr) c.5677T>A (p.Ser1893Thr) | |
12 | g.51807130T>C | CA384888285 | SCN8A | c.5644T>C (p.Ser1882Pro) c.5521T>C (p.Ser1841Pro) c.5677T>C (p.Ser1893Pro) | ClinVar dbSNP |
12 | g.51807130T>G | CA384888286 | SCN8A | c.5644T>G (p.Ser1882Ala) c.5521T>G (p.Ser1841Ala) c.5677T>G (p.Ser1893Ala) | |
12 | g.51807131C>A | CA384888287 | SCN8A | c.5645C>A (p.Ser1882Tyr) c.5522C>A (p.Ser1841Tyr) c.5678C>A (p.Ser1893Tyr) | ClinVar dbSNP |
12 | g.51807131C= | CA2036194688 | SCN8A | c.5645C= (p.Ser1882=) c.5522C= (p.Ser1841=) c.5678C= (p.Ser1893=) | |
12 | g.51807131C>G | CA384888288 | SCN8A | c.5645C>G (p.Ser1882Cys) c.5522C>G (p.Ser1841Cys) c.5678C>G (p.Ser1893Cys) | |
12 | g.51807131C>T | CA384888291 | SCN8A | c.5645C>T (p.Ser1882Phe) c.5522C>T (p.Ser1841Phe) c.5678C>T (p.Ser1893Phe) | ClinVar |
12 | g.51807132T>A | CA480062146 | SCN8A | c.5646T>A (p.Ser1882=) c.5523T>A (p.Ser1841=) c.5679T>A (p.Ser1893=) | |
12 | g.51807132T>C | CA480062147 | SCN8A | c.5646T>C (p.Ser1882=) c.5523T>C (p.Ser1841=) c.5679T>C (p.Ser1893=) | |
12 | g.51807132T>G | CA480062148 | SCN8A | c.5646T>G (p.Ser1882=) c.5523T>G (p.Ser1841=) c.5679T>G (p.Ser1893=) | |
12 | g.51807133T>A | CA384888295 | SCN8A | c.5647T>A (p.Tyr1883Asn) c.5524T>A (p.Tyr1842Asn) c.5680T>A (p.Tyr1894Asn) | |
12 | g.51807133T>C | CA384888296 | SCN8A | c.5647T>C (p.Tyr1883His) c.5524T>C (p.Tyr1842His) c.5680T>C (p.Tyr1894His) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807133T>G | CA384888299 | SCN8A | c.5647T>G (p.Tyr1883Asp) c.5524T>G (p.Tyr1842Asp) c.5680T>G (p.Tyr1894Asp) | |
12 | g.51807133T= | CA2036194693 | SCN8A | c.5647T= (p.Tyr1883=) c.5524T= (p.Tyr1842=) c.5680T= (p.Tyr1894=) | |
12 | g.51807134A>C | CA384888303 | SCN8A | c.5648A>C (p.Tyr1883Ser) c.5525A>C (p.Tyr1842Ser) c.5681A>C (p.Tyr1894Ser) | |
12 | g.51807134A>G | CA384888304 | SCN8A | c.5648A>G (p.Tyr1883Cys) c.5525A>G (p.Tyr1842Cys) c.5681A>G (p.Tyr1894Cys) | ClinVar dbSNP |
12 | g.51807134A>T | CA384888310 | SCN8A | c.5648A>T (p.Tyr1883Phe) c.5525A>T (p.Tyr1842Phe) c.5681A>T (p.Tyr1894Phe) | |
12 | g.51807135C>A | CA384888313 | SCN8A | c.5649C>A (p.Tyr1883Ter) c.5526C>A (p.Tyr1842Ter) c.5682C>A (p.Tyr1894Ter) | |
12 | g.51807135C= | CA2036194696 | SCN8A | c.5649C= (p.Tyr1883=) c.5526C= (p.Tyr1842=) c.5682C= (p.Tyr1894=) | |
12 | g.51807135C>G | CA384888315 | SCN8A | c.5649C>G (p.Tyr1883Ter) c.5526C>G (p.Tyr1842Ter) c.5682C>G (p.Tyr1894Ter) | |
12 | g.51807135C>T | CA6571935 | SCN8A | c.5649C>T (p.Tyr1883=) c.5526C>T (p.Tyr1842=) c.5682C>T (p.Tyr1894=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807136G>A | CA6571936 | SCN8A | c.5650G>A (p.Glu1884Lys) c.5527G>A (p.Glu1843Lys) c.5683G>A (p.Glu1895Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51807136G>C | CA384888322 | SCN8A | c.5650G>C (p.Glu1884Gln) c.5527G>C (p.Glu1843Gln) c.5683G>C (p.Glu1895Gln) | |
12 | g.51807136G= | CA2036194704 | SCN8A | c.5650G= (p.Glu1884=) c.5527G= (p.Glu1843=) c.5683G= (p.Glu1895=) | |
12 | g.51807136G>T | CA384888324 | SCN8A | c.5650G>T (p.Glu1884Ter) c.5527G>T (p.Glu1843Ter) c.5683G>T (p.Glu1895Ter) | dbSNP |
12 | g.51807137A>C | CA384888326 | SCN8A | c.5651A>C (p.Glu1884Ala) c.5528A>C (p.Glu1843Ala) c.5684A>C (p.Glu1895Ala) | |
12 | g.51807137A>G | CA384888331 | SCN8A | c.5651A>G (p.Glu1884Gly) c.5528A>G (p.Glu1843Gly) c.5684A>G (p.Glu1895Gly) | |
12 | g.51807137A>T | CA384888334 | SCN8A | c.5651A>T (p.Glu1884Val) c.5528A>T (p.Glu1843Val) c.5684A>T (p.Glu1895Val) | |
12 | g.51807138G>A | CA480062161 | SCN8A | c.5652G>A (p.Glu1884=) c.5529G>A (p.Glu1843=) c.5685G>A (p.Glu1895=) | dbSNP |
12 | g.51807138G>C | CA384888336 | SCN8A | c.5652G>C (p.Glu1884Asp) c.5529G>C (p.Glu1843Asp) c.5685G>C (p.Glu1895Asp) | |
12 | g.51807138G= | CA2036194711 | SCN8A | c.5652G= (p.Glu1884=) c.5529G= (p.Glu1843=) c.5685G= (p.Glu1895=) | |
12 | g.51807138G>T | CA384888339 | SCN8A | c.5652G>T (p.Glu1884Asp) c.5529G>T (p.Glu1843Asp) c.5685G>T (p.Glu1895Asp) | |
12 | g.51807139C>A | CA384888340 | SCN8A | c.5653C>A (p.Pro1885Thr) c.5530C>A (p.Pro1844Thr) c.5686C>A (p.Pro1896Thr) | COSMIC COSMIC |
12 | g.51807139C>G | CA384888341 | SCN8A | c.5653C>G (p.Pro1885Ala) c.5530C>G (p.Pro1844Ala) c.5686C>G (p.Pro1896Ala) | |
12 | g.51807139C>T | CA384888342 | SCN8A | c.5653C>T (p.Pro1885Ser) c.5530C>T (p.Pro1844Ser) c.5686C>T (p.Pro1896Ser) | |
12 | g.51807140C>A | CA384888343 | SCN8A | c.5654C>A (p.Pro1885Gln) c.5531C>A (p.Pro1844Gln) c.5687C>A (p.Pro1896Gln) | |
12 | g.51807140C>G | CA384888344 | SCN8A | c.5654C>G (p.Pro1885Arg) c.5531C>G (p.Pro1844Arg) c.5687C>G (p.Pro1896Arg) | |
12 | g.51807140C>T | CA384888345 | SCN8A | c.5654C>T (p.Pro1885Leu) c.5531C>T (p.Pro1844Leu) c.5687C>T (p.Pro1896Leu) | |
12 | g.51807141A>C | CA480062172 | SCN8A | c.5655A>C (p.Pro1885=) c.5532A>C (p.Pro1844=) c.5688A>C (p.Pro1896=) | |
12 | g.51807141A>G | CA480062170 | SCN8A | c.5655A>G (p.Pro1885=) c.5532A>G (p.Pro1844=) c.5688A>G (p.Pro1896=) | |
12 | g.51807141A>T | CA480062167 | SCN8A | c.5655A>T (p.Pro1885=) c.5532A>T (p.Pro1844=) c.5688A>T (p.Pro1896=) | gnomAD v4 |
12 | g.51807142A= | CA2036194717 | SCN8A | c.5656A= (p.Ile1886=) c.5533A= (p.Ile1845=) c.5689A= (p.Ile1897=) | |
12 | g.51807142A>C | CA384888349 | SCN8A | c.5656A>C (p.Ile1886Leu) c.5533A>C (p.Ile1845Leu) c.5689A>C (p.Ile1897Leu) | |
12 | g.51807142A>G | CA384888351 | SCN8A | c.5656A>G (p.Ile1886Val) c.5533A>G (p.Ile1845Val) c.5689A>G (p.Ile1897Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807142A>T | CA384888347 | SCN8A | c.5656A>T (p.Ile1886Phe) c.5533A>T (p.Ile1845Phe) c.5689A>T (p.Ile1897Phe) | |
12 | g.51807143T>A | CA384888358 | SCN8A | c.5657T>A (p.Ile1886Asn) c.5534T>A (p.Ile1845Asn) c.5690T>A (p.Ile1897Asn) | |
12 | g.51807143T>C | CA384888354 | SCN8A | c.5657T>C (p.Ile1886Thr) c.5534T>C (p.Ile1845Thr) c.5690T>C (p.Ile1897Thr) | |
12 | g.51807143T>G | CA384888360 | SCN8A | c.5657T>G (p.Ile1886Ser) c.5534T>G (p.Ile1845Ser) c.5690T>G (p.Ile1897Ser) | |
12 | g.51807144C>A | CA480062176 | SCN8A | c.5658C>A (p.Ile1886=) c.5535C>A (p.Ile1845=) c.5691C>A (p.Ile1897=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807144C= | CA2036194725 | SCN8A | c.5658C= (p.Ile1886=) c.5535C= (p.Ile1845=) c.5691C= (p.Ile1897=) | |
12 | g.51807144C>G | CA384888364 | SCN8A | c.5658C>G (p.Ile1886Met) c.5535C>G (p.Ile1845Met) c.5691C>G (p.Ile1897Met) | |
12 | g.51807144C>T | CA480062174 | SCN8A | c.5658C>T (p.Ile1886=) c.5535C>T (p.Ile1845=) c.5691C>T (p.Ile1897=) | |
12 | g.51807145A= | CA2036194728 | SCN8A | c.5659A= (p.Thr1887=) c.5536A= (p.Thr1846=) c.5692A= (p.Thr1898=) | |
12 | g.51807145A>C | CA384888378 | SCN8A | c.5659A>C (p.Thr1887Pro) c.5536A>C (p.Thr1846Pro) c.5692A>C (p.Thr1898Pro) | |
12 | g.51807145A>G | CA384888366 | SCN8A | c.5659A>G (p.Thr1887Ala) c.5536A>G (p.Thr1846Ala) c.5692A>G (p.Thr1898Ala) | ClinVar dbSNP |
12 | g.51807145A>T | CA384888376 | SCN8A | c.5659A>T (p.Thr1887Ser) c.5536A>T (p.Thr1846Ser) c.5692A>T (p.Thr1898Ser) | |
12 | g.51807146C>A | CA384888381 | SCN8A | c.5660C>A (p.Thr1887Lys) c.5537C>A (p.Thr1846Lys) c.5693C>A (p.Thr1898Lys) | |
12 | g.51807146C>G | CA384888384 | SCN8A | c.5660C>G (p.Thr1887Arg) c.5537C>G (p.Thr1846Arg) c.5693C>G (p.Thr1898Arg) | |
12 | g.51807146C>T | CA384888385 | SCN8A | c.5660C>T (p.Thr1887Ile) c.5537C>T (p.Thr1846Ile) c.5693C>T (p.Thr1898Ile) | |
12 | g.51807147A>C | CA480062181 | SCN8A | c.5661A>C (p.Thr1887=) c.5538A>C (p.Thr1846=) c.5694A>C (p.Thr1898=) | |
12 | g.51807147A>G | CA480062183 | SCN8A | c.5661A>G (p.Thr1887=) c.5538A>G (p.Thr1846=) c.5694A>G (p.Thr1898=) | |
12 | g.51807147A>T | CA480062182 | SCN8A | c.5661A>T (p.Thr1887=) c.5538A>T (p.Thr1846=) c.5694A>T (p.Thr1898=) | |
12 | g.51807147_51807148insCCC | CA2795967145 | SCN8A | c.5661_5662insCCC (p.Thr1887_Thr1888insPro) c.5538_5539insCCC (p.Thr1846_Thr1847insPro) c.5694_5695insCCC (p.Thr1898_Thr1899insPro) | |
12 | g.51807148A= | CA2036194730 | SCN8A | c.5662A= (p.Thr1888=) c.5539A= (p.Thr1847=) c.5695A= (p.Thr1899=) | |
12 | g.51807148A>C | CA384888386 | SCN8A | c.5662A>C (p.Thr1888Pro) c.5539A>C (p.Thr1847Pro) c.5695A>C (p.Thr1899Pro) | |
12 | g.51807148A>G | CA384888387 | SCN8A | c.5662A>G (p.Thr1888Ala) c.5539A>G (p.Thr1847Ala) c.5695A>G (p.Thr1899Ala) | |
12 | g.51807148A>T | CA6571937 | SCN8A | c.5662A>T (p.Thr1888Ser) c.5539A>T (p.Thr1847Ser) c.5695A>T (p.Thr1899Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.51807149C>A | CA384888390 | SCN8A | c.5663C>A (p.Thr1888Asn) c.5540C>A (p.Thr1847Asn) c.5696C>A (p.Thr1899Asn) | |
12 | g.51807149C>G | CA384888392 | SCN8A | c.5663C>G (p.Thr1888Ser) c.5540C>G (p.Thr1847Ser) c.5696C>G (p.Thr1899Ser) | |
12 | g.51807149C>T | CA384888401 | SCN8A | c.5663C>T (p.Thr1888Ile) c.5540C>T (p.Thr1847Ile) c.5696C>T (p.Thr1899Ile) | |
12 | g.51807150C>A | CA480062188 | SCN8A | c.5664C>A (p.Thr1888=) c.5541C>A (p.Thr1847=) c.5697C>A (p.Thr1899=) | |
12 | g.51807150C= | CA2036194734 | SCN8A | c.5664C= (p.Thr1888=) c.5541C= (p.Thr1847=) c.5697C= (p.Thr1899=) | |
12 | g.51807150C>G | CA480062189 | SCN8A | c.5664C>G (p.Thr1888=) c.5541C>G (p.Thr1847=) c.5697C>G (p.Thr1899=) | |
12 | g.51807150C>T | CA480062190 | SCN8A | c.5664C>T (p.Thr1888=) c.5541C>T (p.Thr1847=) c.5697C>T (p.Thr1899=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807151A>C | CA384888405 | SCN8A | c.5665A>C (p.Thr1889Pro) c.5542A>C (p.Thr1848Pro) c.5698A>C (p.Thr1900Pro) | |
12 | g.51807151A>G | CA384888403 | SCN8A | c.5665A>G (p.Thr1889Ala) c.5542A>G (p.Thr1848Ala) c.5698A>G (p.Thr1900Ala) | |
12 | g.51807151A>T | CA384888402 | SCN8A | c.5665A>T (p.Thr1889Ser) c.5542A>T (p.Thr1848Ser) c.5698A>T (p.Thr1900Ser) | gnomAD v4 |
12 | g.51807152C>A | CA384888411 | SCN8A | c.5666C>A (p.Thr1889Lys) c.5543C>A (p.Thr1848Lys) c.5699C>A (p.Thr1900Lys) | |
12 | g.51807152C>G | CA384888413 | SCN8A | c.5666C>G (p.Thr1889Arg) c.5543C>G (p.Thr1848Arg) c.5699C>G (p.Thr1900Arg) | |
12 | g.51807152C>T | CA384888414 | SCN8A | c.5666C>T (p.Thr1889Ile) c.5543C>T (p.Thr1848Ile) c.5699C>T (p.Thr1900Ile) | gnomAD v4 |
12 | g.51807153A= | CA2036194738 | SCN8A | c.5667A= (p.Thr1889=) c.5544A= (p.Thr1848=) c.5700A= (p.Thr1900=) | |
12 | g.51807153A>C | CA480062195 | SCN8A | c.5667A>C (p.Thr1889=) c.5544A>C (p.Thr1848=) c.5700A>C (p.Thr1900=) | |
12 | g.51807153A>G | CA480062197 | SCN8A | c.5667A>G (p.Thr1889=) c.5544A>G (p.Thr1848=) c.5700A>G (p.Thr1900=) | |
12 | g.51807153A>T | CA480062199 | SCN8A | c.5667A>T (p.Thr1889=) c.5544A>T (p.Thr1848=) c.5700A>T (p.Thr1900=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807154C>A | CA384888417 | SCN8A | c.5668C>A (p.Leu1890Met) c.5545C>A (p.Leu1849Met) c.5701C>A (p.Leu1901Met) | |
12 | g.51807154C= | CA2036194742 | SCN8A | c.5668C= (p.Leu1890=) c.5545C= (p.Leu1849=) c.5701C= (p.Leu1901=) | |
12 | g.51807154C>G | CA384888418 | SCN8A | c.5668C>G (p.Leu1890Val) c.5545C>G (p.Leu1849Val) c.5701C>G (p.Leu1901Val) | gnomAD v4 |
12 | g.51807154C>T | CA480062201 | SCN8A | c.5668C>T (p.Leu1890=) c.5545C>T (p.Leu1849=) c.5701C>T (p.Leu1901=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807155T>A | CA384888419 | SCN8A | c.5669T>A (p.Leu1890Gln) c.5546T>A (p.Leu1849Gln) c.5702T>A (p.Leu1901Gln) | |
12 | g.51807155T>C | CA384888421 | SCN8A | c.5669T>C (p.Leu1890Pro) c.5546T>C (p.Leu1849Pro) c.5702T>C (p.Leu1901Pro) | ClinVar dbSNP |
12 | g.51807155T>G | CA384888426 | SCN8A | c.5669T>G (p.Leu1890Arg) c.5546T>G (p.Leu1849Arg) c.5702T>G (p.Leu1901Arg) | |
12 | g.51807156G>A | CA6571938 | SCN8A | c.5670G>A (p.Leu1890=) c.5547G>A (p.Leu1849=) c.5703G>A (p.Leu1901=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807156G>C | CA480062202 | SCN8A | c.5670G>C (p.Leu1890=) c.5547G>C (p.Leu1849=) c.5703G>C (p.Leu1901=) | |
12 | g.51807156G= | CA2036194745 | SCN8A | c.5670G= (p.Leu1890=) c.5547G= (p.Leu1849=) c.5703G= (p.Leu1901=) | |
12 | g.51807156G>T | CA480062204 | SCN8A | c.5670G>T (p.Leu1890=) c.5547G>T (p.Leu1849=) c.5703G>T (p.Leu1901=) | |
12 | g.51807157C>A | CA384888427 | SCN8A | c.5671C>A (p.Arg1891Ser) c.5548C>A (p.Arg1850Ser) c.5704C>A (p.Arg1902Ser) | |
12 | g.51807157C= | CA2036194748 | SCN8A | c.5671C= (p.Arg1891=) c.5548C= (p.Arg1850=) c.5704C= (p.Arg1902=) | |
12 | g.51807157C>G | CA384888429 | SCN8A | c.5671C>G (p.Arg1891Gly) c.5548C>G (p.Arg1850Gly) c.5704C>G (p.Arg1902Gly) | |
12 | g.51807157C>T | CA6571939 | SCN8A | c.5671C>T (p.Arg1891Cys) c.5548C>T (p.Arg1850Cys) c.5704C>T (p.Arg1902Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807158G>A | CA384888435 | SCN8A | c.5672G>A (p.Arg1891His) c.5549G>A (p.Arg1850His) c.5705G>A (p.Arg1902His) | ClinVar dbSNP gnomAD v4 |
12 | g.51807158G>C | CA384888433 | SCN8A | c.5672G>C (p.Arg1891Pro) c.5549G>C (p.Arg1850Pro) c.5705G>C (p.Arg1902Pro) | |
12 | g.51807158G= | CA2036194754 | SCN8A | c.5672G= (p.Arg1891=) c.5549G= (p.Arg1850=) c.5705G= (p.Arg1902=) | |
12 | g.51807158G>T | CA384888431 | SCN8A | c.5672G>T (p.Arg1891Leu) c.5549G>T (p.Arg1850Leu) c.5705G>T (p.Arg1902Leu) | |
12 | g.51807159T>A | CA480062205 | SCN8A | c.5673T>A (p.Arg1891=) c.5550T>A (p.Arg1850=) c.5706T>A (p.Arg1902=) | |
12 | g.51807159T>C | CA480062206 | SCN8A | c.5673T>C (p.Arg1891=) c.5550T>C (p.Arg1850=) c.5706T>C (p.Arg1902=) | gnomAD v4 COSMIC COSMIC |
12 | g.51807159T>G | CA480062207 | SCN8A | c.5673T>G (p.Arg1891=) c.5550T>G (p.Arg1850=) c.5706T>G (p.Arg1902=) | |
12 | g.51807160C>A | CA384888440 | SCN8A | c.5674C>A (p.Arg1892Ser) c.5551C>A (p.Arg1851Ser) c.5707C>A (p.Arg1903Ser) | COSMIC COSMIC |
12 | g.51807160C= | CA2036194762 | SCN8A | c.5674C= (p.Arg1892=) c.5551C= (p.Arg1851=) c.5707C= (p.Arg1903=) | |
12 | g.51807160C>G | CA384888443 | SCN8A | c.5674C>G (p.Arg1892Gly) c.5551C>G (p.Arg1851Gly) c.5707C>G (p.Arg1903Gly) | |
12 | g.51807160C>T | CA384888445 | SCN8A | c.5674C>T (p.Arg1892Cys) c.5551C>T (p.Arg1851Cys) c.5707C>T (p.Arg1903Cys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807161G>A | CA384888449 | SCN8A | c.5675G>A (p.Arg1892His) c.5552G>A (p.Arg1851His) c.5708G>A (p.Arg1903His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807161G>C | CA384888453 | SCN8A | c.5675G>C (p.Arg1892Pro) c.5552G>C (p.Arg1851Pro) c.5708G>C (p.Arg1903Pro) | |
12 | g.51807161G= | CA2036194770 | SCN8A | c.5675G= (p.Arg1892=) c.5552G= (p.Arg1851=) c.5708G= (p.Arg1903=) | |
12 | g.51807161G>T | CA384888455 | SCN8A | c.5675G>T (p.Arg1892Leu) c.5552G>T (p.Arg1851Leu) c.5708G>T (p.Arg1903Leu) | ClinVar dbSNP |
12 | g.51807162C>A | CA480062215 | SCN8A | c.5676C>A (p.Arg1892=) c.5553C>A (p.Arg1851=) c.5709C>A (p.Arg1903=) | gnomAD v4 |
12 | g.51807162C>G | CA480062216 | SCN8A | c.5676C>G (p.Arg1892=) c.5553C>G (p.Arg1851=) c.5709C>G (p.Arg1903=) | |
12 | g.51807162C>T | CA480062214 | SCN8A | c.5676C>T (p.Arg1892=) c.5553C>T (p.Arg1851=) c.5709C>T (p.Arg1903=) | |
12 | g.51807163A>C | CA384888466 | SCN8A | c.5677A>C (p.Lys1893Gln) c.5554A>C (p.Lys1852Gln) c.5710A>C (p.Lys1904Gln) | |
12 | g.51807163A>G | CA384888458 | SCN8A | c.5677A>G (p.Lys1893Glu) c.5554A>G (p.Lys1852Glu) c.5710A>G (p.Lys1904Glu) | |
12 | g.51807163A>T | CA384888465 | SCN8A | c.5677A>T (p.Lys1893Ter) c.5554A>T (p.Lys1852Ter) c.5710A>T (p.Lys1904Ter) | |
12 | g.51807164A>C | CA384888469 | SCN8A | c.5678A>C (p.Lys1893Thr) c.5555A>C (p.Lys1852Thr) c.5711A>C (p.Lys1904Thr) | |
12 | g.51807164A>G | CA384888470 | SCN8A | c.5678A>G (p.Lys1893Arg) c.5555A>G (p.Lys1852Arg) c.5711A>G (p.Lys1904Arg) | |
12 | g.51807164A>T | CA384888471 | SCN8A | c.5678A>T (p.Lys1893Met) c.5555A>T (p.Lys1852Met) c.5711A>T (p.Lys1904Met) | |
12 | g.51807165G>A | CA480062220 | SCN8A | c.5679G>A (p.Lys1893=) c.5556G>A (p.Lys1852=) c.5712G>A (p.Lys1904=) | |
12 | g.51807165G>C | CA384888474 | SCN8A | c.5679G>C (p.Lys1893Asn) c.5556G>C (p.Lys1852Asn) c.5712G>C (p.Lys1904Asn) | |
12 | g.51807165G>T | CA384888483 | SCN8A | c.5679G>T (p.Lys1893Asn) c.5556G>T (p.Lys1852Asn) c.5712G>T (p.Lys1904Asn) | |
12 | g.51807166C>A | CA384888487 | SCN8A | c.5680C>A (p.Gln1894Lys) c.5557C>A (p.Gln1853Lys) c.5713C>A (p.Gln1905Lys) | |
12 | g.51807166C>G | CA384888493 | SCN8A | c.5680C>G (p.Gln1894Glu) c.5557C>G (p.Gln1853Glu) c.5713C>G (p.Gln1905Glu) | |
12 | g.51807166C>T | CA384888490 | SCN8A | c.5680C>T (p.Gln1894Ter) c.5557C>T (p.Gln1853Ter) c.5713C>T (p.Gln1905Ter) | |
12 | g.51807167A>C | CA384888496 | SCN8A | c.5681A>C (p.Gln1894Pro) c.5558A>C (p.Gln1853Pro) c.5714A>C (p.Gln1905Pro) | |
12 | g.51807167A>G | CA384888501 | SCN8A | c.5681A>G (p.Gln1894Arg) c.5558A>G (p.Gln1853Arg) c.5714A>G (p.Gln1905Arg) | |
12 | g.51807167A>T | CA384888505 | SCN8A | c.5681A>T (p.Gln1894Leu) c.5558A>T (p.Gln1853Leu) c.5714A>T (p.Gln1905Leu) | |
12 | g.51807173_51807175del | CA2618842224 | SCN8A | c.5687_5689del (p.Glu1896del) c.5564_5566del (p.Glu1855del) c.5720_5722del (p.Glu1907del) | gnomAD v4 |
12 | g.51807168G>A | CA480062224 | SCN8A | c.5682G>A (p.Gln1894=) c.5559G>A (p.Gln1853=) c.5715G>A (p.Gln1905=) | ClinVar dbSNP |
12 | g.51807168G>C | CA384888510 | SCN8A | c.5682G>C (p.Gln1894His) c.5559G>C (p.Gln1853His) c.5715G>C (p.Gln1905His) | |
12 | g.51807168G>T | CA384888527 | SCN8A | c.5682G>T (p.Gln1894His) c.5559G>T (p.Gln1853His) c.5715G>T (p.Gln1905His) | |
12 | g.51807169G>A | CA384888528 | SCN8A | c.5683G>A (p.Glu1895Lys) c.5560G>A (p.Glu1854Lys) c.5716G>A (p.Glu1906Lys) | dbSNP |
12 | g.51807169G>C | CA384888530 | SCN8A | c.5683G>C (p.Glu1895Gln) c.5560G>C (p.Glu1854Gln) c.5716G>C (p.Glu1906Gln) | gnomAD v4 |
12 | g.51807169G= | CA2036194777 | SCN8A | c.5683G= (p.Glu1895=) c.5560G= (p.Glu1854=) c.5716G= (p.Glu1906=) | |
12 | g.51807169G>T | CA384888531 | SCN8A | c.5683G>T (p.Glu1895Ter) c.5560G>T (p.Glu1854Ter) c.5716G>T (p.Glu1906Ter) | dbSNP |
12 | g.51807170A>C | CA384888534 | SCN8A | c.5684A>C (p.Glu1895Ala) c.5561A>C (p.Glu1854Ala) c.5717A>C (p.Glu1906Ala) | |
12 | g.51807170A>G | CA384888537 | SCN8A | c.5684A>G (p.Glu1895Gly) c.5561A>G (p.Glu1854Gly) c.5717A>G (p.Glu1906Gly) | |
12 | g.51807170A>T | CA384888541 | SCN8A | c.5684A>T (p.Glu1895Val) c.5561A>T (p.Glu1854Val) c.5717A>T (p.Glu1906Val) | |
12 | g.51807171G>A | CA480062230 | SCN8A | c.5685G>A (p.Glu1895=) c.5562G>A (p.Glu1854=) c.5718G>A (p.Glu1906=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807171G>C | CA384888547 | SCN8A | c.5685G>C (p.Glu1895Asp) c.5562G>C (p.Glu1854Asp) c.5718G>C (p.Glu1906Asp) | |
12 | g.51807171G= | CA2036194779 | SCN8A | c.5685G= (p.Glu1895=) c.5562G= (p.Glu1854=) c.5718G= (p.Glu1906=) | |
12 | g.51807171G>T | CA384888543 | SCN8A | c.5685G>T (p.Glu1895Asp) c.5562G>T (p.Glu1854Asp) c.5718G>T (p.Glu1906Asp) | |
12 | g.51807172G>A | CA384888550 | SCN8A | c.5686G>A (p.Glu1896Lys) c.5563G>A (p.Glu1855Lys) c.5719G>A (p.Glu1907Lys) | gnomAD v4 |
12 | g.51807172G>C | CA384888554 | SCN8A | c.5686G>C (p.Glu1896Gln) c.5563G>C (p.Glu1855Gln) c.5719G>C (p.Glu1907Gln) | |
12 | g.51807172G= | CA2036194782 | SCN8A | c.5686G= (p.Glu1896=) c.5563G= (p.Glu1855=) c.5719G= (p.Glu1907=) | |
12 | g.51807172G>T | CA384888553 | SCN8A | c.5686G>T (p.Glu1896Ter) c.5563G>T (p.Glu1855Ter) c.5719G>T (p.Glu1907Ter) | dbSNP |
12 | g.51807173A= | CA2036194786 | SCN8A | c.5687A= (p.Glu1896=) c.5564A= (p.Glu1855=) c.5720A= (p.Glu1907=) | |
12 | g.51807173A>C | CA384888558 | SCN8A | c.5687A>C (p.Glu1896Ala) c.5564A>C (p.Glu1855Ala) c.5720A>C (p.Glu1907Ala) | |
12 | g.51807173A>G | CA6571940 | SCN8A | c.5687A>G (p.Glu1896Gly) c.5564A>G (p.Glu1855Gly) c.5720A>G (p.Glu1907Gly) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.51807173A>T | CA384888562 | SCN8A | c.5687A>T (p.Glu1896Val) c.5564A>T (p.Glu1855Val) c.5720A>T (p.Glu1907Val) | |
12 | g.51807174G>A | CA480062236 | SCN8A | c.5688G>A (p.Glu1896=) c.5565G>A (p.Glu1855=) c.5721G>A (p.Glu1907=) | |
12 | g.51807174G>C | CA384888565 | SCN8A | c.5688G>C (p.Glu1896Asp) c.5565G>C (p.Glu1855Asp) c.5721G>C (p.Glu1907Asp) | |
12 | g.51807174G>T | CA384888576 | SCN8A | c.5688G>T (p.Glu1896Asp) c.5565G>T (p.Glu1855Asp) c.5721G>T (p.Glu1907Asp) | |
12 | g.51807175G>A | CA384888580 | SCN8A | c.5689G>A (p.Val1897Ile) c.5566G>A (p.Val1856Ile) c.5722G>A (p.Val1908Ile) | |
12 | g.51807175G>C | CA384888584 | SCN8A | c.5689G>C (p.Val1897Leu) c.5566G>C (p.Val1856Leu) c.5722G>C (p.Val1908Leu) | |
12 | g.51807175G>T | CA384888597 | SCN8A | c.5689G>T (p.Val1897Leu) c.5566G>T (p.Val1856Leu) c.5722G>T (p.Val1908Leu) | |
12 | g.51807176T>A | CA384888602 | SCN8A | c.5690T>A (p.Val1897Glu) c.5567T>A (p.Val1856Glu) c.5723T>A (p.Val1908Glu) | |
12 | g.51807176T>C | CA384888605 | SCN8A | c.5690T>C (p.Val1897Ala) c.5567T>C (p.Val1856Ala) c.5723T>C (p.Val1908Ala) | |
12 | g.51807176T>G | CA384888607 | SCN8A | c.5690T>G (p.Val1897Gly) c.5567T>G (p.Val1856Gly) c.5723T>G (p.Val1908Gly) | |
12 | g.51807177A>C | CA480062239 | SCN8A | c.5691A>C (p.Val1897=) c.5568A>C (p.Val1856=) c.5724A>C (p.Val1908=) | |
12 | g.51807177A>G | CA480062241 | SCN8A | c.5691A>G (p.Val1897=) c.5568A>G (p.Val1856=) c.5724A>G (p.Val1908=) | gnomAD v4 |
12 | g.51807177A>T | CA480062243 | SCN8A | c.5691A>T (p.Val1897=) c.5568A>T (p.Val1856=) c.5724A>T (p.Val1908=) | |
12 | g.51807178T>A | CA384888617 | SCN8A | c.5692T>A (p.Ser1898Thr) c.5569T>A (p.Ser1857Thr) c.5725T>A (p.Ser1909Thr) | |
12 | g.51807178T>C | CA384888615 | SCN8A | c.5692T>C (p.Ser1898Pro) c.5569T>C (p.Ser1857Pro) c.5725T>C (p.Ser1909Pro) | gnomAD v4 |
12 | g.51807178T>G | CA384888612 | SCN8A | c.5692T>G (p.Ser1898Ala) c.5569T>G (p.Ser1857Ala) c.5725T>G (p.Ser1909Ala) | gnomAD v4 |
12 | g.51807179C>A | CA384888621 | SCN8A | c.5693C>A (p.Ser1898Tyr) c.5570C>A (p.Ser1857Tyr) c.5726C>A (p.Ser1909Tyr) | |
12 | g.51807179C>G | CA384888624 | SCN8A | c.5693C>G (p.Ser1898Cys) c.5570C>G (p.Ser1857Cys) c.5726C>G (p.Ser1909Cys) | |
12 | g.51807179C>T | CA384888636 | SCN8A | c.5693C>T (p.Ser1898Phe) c.5570C>T (p.Ser1857Phe) c.5726C>T (p.Ser1909Phe) | |
12 | g.51807180T>A | CA480062246 | SCN8A | c.5694T>A (p.Ser1898=) c.5571T>A (p.Ser1857=) c.5727T>A (p.Ser1909=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807180T>C | CA480062245 | SCN8A | c.5694T>C (p.Ser1898=) c.5571T>C (p.Ser1857=) c.5727T>C (p.Ser1909=) | |
12 | g.51807180T>G | CA480062244 | SCN8A | c.5694T>G (p.Ser1898=) c.5571T>G (p.Ser1857=) c.5727T>G (p.Ser1909=) | gnomAD v4 |
12 | g.51807180T= | CA2036194791 | SCN8A | c.5694T= (p.Ser1898=) c.5571T= (p.Ser1857=) c.5727T= (p.Ser1909=) | |
12 | g.51807181G>A | CA384888642 | SCN8A | c.5695G>A (p.Ala1899Thr) c.5572G>A (p.Ala1858Thr) c.5728G>A (p.Ala1910Thr) | |
12 | g.51807181G>C | CA384888644 | SCN8A | c.5695G>C (p.Ala1899Pro) c.5572G>C (p.Ala1858Pro) c.5728G>C (p.Ala1910Pro) | |
12 | g.51807181G>T | CA384888647 | SCN8A | c.5695G>T (p.Ala1899Ser) c.5572G>T (p.Ala1858Ser) c.5728G>T (p.Ala1910Ser) | |
12 | g.51807182C>A | CA384888650 | SCN8A | c.5696C>A (p.Ala1899Glu) c.5573C>A (p.Ala1858Glu) c.5729C>A (p.Ala1910Glu) | |
12 | g.51807182C= | CA2036194797 | SCN8A | c.5696C= (p.Ala1899=) c.5573C= (p.Ala1858=) c.5729C= (p.Ala1910=) | |
12 | g.51807182C>G | CA384888652 | SCN8A | c.5696C>G (p.Ala1899Gly) c.5573C>G (p.Ala1858Gly) c.5729C>G (p.Ala1910Gly) | |
12 | g.51807182C>T | CA384888656 | SCN8A | c.5696C>T (p.Ala1899Val) c.5573C>T (p.Ala1858Val) c.5729C>T (p.Ala1910Val) | ClinVar dbSNP |
12 | g.51807183A>C | CA480062249 | SCN8A | c.5697A>C (p.Ala1899=) c.5574A>C (p.Ala1858=) c.5730A>C (p.Ala1910=) | |
12 | g.51807183A>G | CA480062250 | SCN8A | c.5697A>G (p.Ala1899=) c.5574A>G (p.Ala1858=) c.5730A>G (p.Ala1910=) | gnomAD v4 |
12 | g.51807183A>T | CA480062252 | SCN8A | c.5697A>T (p.Ala1899=) c.5574A>T (p.Ala1858=) c.5730A>T (p.Ala1910=) | |
12 | g.51807184G>A | CA384888660 | SCN8A | c.5698G>A (p.Val1900Met) c.5575G>A (p.Val1859Met) c.5731G>A (p.Val1911Met) | gnomAD v4 |
12 | g.51807184G>C | CA384888663 | SCN8A | c.5698G>C (p.Val1900Leu) c.5575G>C (p.Val1859Leu) c.5731G>C (p.Val1911Leu) | |
12 | g.51807184G>T | CA384888665 | SCN8A | c.5698G>T (p.Val1900Leu) c.5575G>T (p.Val1859Leu) c.5731G>T (p.Val1911Leu) | COSMIC COSMIC |
12 | g.51807185T>A | CA384888677 | SCN8A | c.5699T>A (p.Val1900Glu) c.5576T>A (p.Val1859Glu) c.5732T>A (p.Val1911Glu) | |
12 | g.51807185T>C | CA16619567 | SCN8A | c.5699T>C (p.Val1900Ala) c.5576T>C (p.Val1859Ala) c.5732T>C (p.Val1911Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807185T>G | CA384888670 | SCN8A | c.5699T>G (p.Val1900Gly) c.5576T>G (p.Val1859Gly) c.5732T>G (p.Val1911Gly) | dbSNP |
12 | g.51807185T= | CA2036194804 | SCN8A | c.5699T= (p.Val1900=) c.5576T= (p.Val1859=) c.5732T= (p.Val1911=) | |
12 | g.51807186G>A | CA480062253 | SCN8A | c.5700G>A (p.Val1900=) c.5577G>A (p.Val1859=) c.5733G>A (p.Val1911=) | |
12 | g.51807186G>C | CA480062257 | SCN8A | c.5700G>C (p.Val1900=) c.5577G>C (p.Val1859=) c.5733G>C (p.Val1911=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807186G= | CA2036194807 | SCN8A | c.5700G= (p.Val1900=) c.5577G= (p.Val1859=) c.5733G= (p.Val1911=) | |
12 | g.51807186G>T | CA480062254 | SCN8A | c.5700G>T (p.Val1900=) c.5577G>T (p.Val1859=) c.5733G>T (p.Val1911=) | |
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.51807187G>A | CA384888681 | SCN8A | c.5701G>A (p.Val1901Ile) c.5578G>A (p.Val1860Ile) c.5734G>A (p.Val1912Ile) | COSMIC COSMIC |
12 | g.51807187G>C | CA384888690 | SCN8A | c.5701G>C (p.Val1901Leu) c.5578G>C (p.Val1860Leu) c.5734G>C (p.Val1912Leu) | |
12 | g.51807187G>T | CA384888693 | SCN8A | c.5701G>T (p.Val1901Phe) c.5578G>T (p.Val1860Phe) c.5734G>T (p.Val1912Phe) | |
12 | g.51807188T>A | CA384888696 | SCN8A | c.5702T>A (p.Val1901Asp) c.5579T>A (p.Val1860Asp) c.5735T>A (p.Val1912Asp) | |
12 | g.51807188T>C | CA384888700 | SCN8A | c.5702T>C (p.Val1901Ala) c.5579T>C (p.Val1860Ala) c.5735T>C (p.Val1912Ala) | |
12 | g.51807188T>G | CA384888703 | SCN8A | c.5702T>G (p.Val1901Gly) c.5579T>G (p.Val1860Gly) c.5735T>G (p.Val1912Gly) | |
12 | g.51807189C>A | CA480062264 | SCN8A | c.5703C>A (p.Val1901=) c.5580C>A (p.Val1860=) c.5736C>A (p.Val1912=) | |
12 | g.51807189C>G | CA480062265 | SCN8A | c.5703C>G (p.Val1901=) c.5580C>G (p.Val1860=) c.5736C>G (p.Val1912=) | |
12 | g.51807189C>T | CA480062266 | SCN8A | c.5703C>T (p.Val1901=) c.5580C>T (p.Val1860=) c.5736C>T (p.Val1912=) | |
12 | g.51807190C>A | CA384888711 | SCN8A | c.5704C>A (p.Leu1902Met) c.5581C>A (p.Leu1861Met) c.5737C>A (p.Leu1913Met) | |
12 | g.51807190C>G | CA384888708 | SCN8A | c.5704C>G (p.Leu1902Val) c.5581C>G (p.Leu1861Val) c.5737C>G (p.Leu1913Val) | |
12 | g.51807190C>T | CA480062268 | SCN8A | c.5704C>T (p.Leu1902=) c.5581C>T (p.Leu1861=) c.5737C>T (p.Leu1913=) | |
12 | g.51807191T>A | CA384888714 | SCN8A | c.5705T>A (p.Leu1902Gln) c.5582T>A (p.Leu1861Gln) c.5738T>A (p.Leu1913Gln) | |
12 | g.51807191T>C | CA384888718 | SCN8A | c.5705T>C (p.Leu1902Pro) c.5582T>C (p.Leu1861Pro) c.5738T>C (p.Leu1913Pro) | |
12 | g.51807191T>G | CA384888724 | SCN8A | c.5705T>G (p.Leu1902Arg) c.5582T>G (p.Leu1861Arg) c.5738T>G (p.Leu1913Arg) | |
12 | g.51807192G>A | CA480062272 | SCN8A | c.5706G>A (p.Leu1902=) c.5583G>A (p.Leu1861=) c.5739G>A (p.Leu1913=) | |
12 | g.51807192G>C | CA480062273 | SCN8A | c.5706G>C (p.Leu1902=) c.5583G>C (p.Leu1861=) c.5739G>C (p.Leu1913=) | |
12 | g.51807192G>T | CA480062274 | SCN8A | c.5706G>T (p.Leu1902=) c.5583G>T (p.Leu1861=) c.5739G>T (p.Leu1913=) | |
12 | g.51807193C>A | CA384888727 | SCN8A | c.5707C>A (p.Gln1903Lys) c.5584C>A (p.Gln1862Lys) c.5740C>A (p.Gln1914Lys) | |
12 | g.51807193C>G | CA384888730 | SCN8A | c.5707C>G (p.Gln1903Glu) c.5584C>G (p.Gln1862Glu) c.5740C>G (p.Gln1914Glu) | |
12 | g.51807193C>T | CA384888732 | SCN8A | c.5707C>T (p.Gln1903Ter) c.5584C>T (p.Gln1862Ter) c.5740C>T (p.Gln1914Ter) | |
12 | g.51807194A>C | CA384888736 | SCN8A | c.5708A>C (p.Gln1903Pro) c.5585A>C (p.Gln1862Pro) c.5741A>C (p.Gln1914Pro) | |
12 | g.51807194A>G | CA384888743 | SCN8A | c.5708A>G (p.Gln1903Arg) c.5585A>G (p.Gln1862Arg) c.5741A>G (p.Gln1914Arg) | |
12 | g.51807194A>T | CA384888740 | SCN8A | c.5708A>T (p.Gln1903Leu) c.5585A>T (p.Gln1862Leu) c.5741A>T (p.Gln1914Leu) | |
12 | g.51807195G>A | CA480062275 | SCN8A | c.5709G>A (p.Gln1903=) c.5586G>A (p.Gln1862=) c.5742G>A (p.Gln1914=) | |
12 | g.51807195G>C | CA384888745 | SCN8A | c.5709G>C (p.Gln1903His) c.5586G>C (p.Gln1862His) c.5742G>C (p.Gln1914His) | |
12 | g.51807195G>T | CA384888746 | SCN8A | c.5709G>T (p.Gln1903His) c.5586G>T (p.Gln1862His) c.5742G>T (p.Gln1914His) | |
12 | g.51807196C>A | CA384888747 | SCN8A | c.5710C>A (p.Arg1904Ser) c.5587C>A (p.Arg1863Ser) c.5743C>A (p.Arg1915Ser) | |
12 | g.51807196C= | CA2036194812 | SCN8A | c.5710C= (p.Arg1904=) c.5587C= (p.Arg1863=) c.5743C= (p.Arg1915=) | |
12 | g.51807196C>G | CA384888748 | SCN8A | c.5710C>G (p.Arg1904Gly) c.5587C>G (p.Arg1863Gly) c.5743C>G (p.Arg1915Gly) | |
12 | g.51807196C>T | CA6571941 | SCN8A | c.5710C>T (p.Arg1904Cys) c.5587C>T (p.Arg1863Cys) c.5743C>T (p.Arg1915Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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=) |