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