Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806965A= | CA2036194160 | SCN8A | c.5479A= (p.Ile1827=) c.3543A= c.5356A= (p.Ile1786=) c.5512A= (p.Ile1838=) | |
12 | g.51806965A>C | CA384886640 | SCN8A | c.5479A>C (p.Ile1827Leu) c.3543A>C c.5356A>C (p.Ile1786Leu) c.5512A>C (p.Ile1838Leu) | |
12 | g.51806965A>G | CA6571922 | SCN8A | c.5479A>G (p.Ile1827Val) c.3543A>G c.5356A>G (p.Ile1786Val) c.5512A>G (p.Ile1838Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806965A>T | CA384886643 | SCN8A | c.5479A>T (p.Ile1827Phe) c.3543A>T c.5356A>T (p.Ile1786Phe) c.5512A>T (p.Ile1838Phe) | |
12 | g.51806966T>A | CA384886650 | SCN8A | c.5480T>A (p.Ile1827Asn) c.3544T>A c.5357T>A (p.Ile1786Asn) c.5513T>A (p.Ile1838Asn) | |
12 | g.51806966T>C | CA384886661 | SCN8A | c.5480T>C (p.Ile1827Thr) c.3544T>C c.5357T>C (p.Ile1786Thr) c.5513T>C (p.Ile1838Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.51806966T>G | CA384886658 | SCN8A | c.5480T>G (p.Ile1827Ser) c.3544T>G c.5357T>G (p.Ile1786Ser) c.5513T>G (p.Ile1838Ser) | |
12 | g.51806966T= | CA2036194171 | SCN8A | c.5480T= (p.Ile1827=) c.3544T= c.5357T= (p.Ile1786=) c.5513T= (p.Ile1838=) | |
12 | g.51806967T>A | CA480061862 | SCN8A | c.5481T>A (p.Ile1827=) c.3545T>A c.5358T>A (p.Ile1786=) c.5514T>A (p.Ile1838=) | |
12 | g.51806967T>C | CA480061864 | SCN8A | c.5481T>C (p.Ile1827=) c.3545T>C c.5358T>C (p.Ile1786=) c.5514T>C (p.Ile1838=) | |
12 | g.51806967T>G | CA384886662 | SCN8A | c.5481T>G (p.Ile1827Met) c.3545T>G c.5358T>G (p.Ile1786Met) c.5514T>G (p.Ile1838Met) | |
12 | g.51806968G>A | CA384886665 | SCN8A | c.5482G>A (p.Glu1828Lys) c.3546G>A c.5359G>A (p.Glu1787Lys) c.5515G>A (p.Glu1839Lys) | |
12 | g.51806968G>C | CA384886669 | SCN8A | c.5482G>C (p.Glu1828Gln) c.3546G>C c.5359G>C (p.Glu1787Gln) c.5515G>C (p.Glu1839Gln) | gnomAD v4 |
12 | g.51806968G= | CA2036194181 | SCN8A | c.5482G= (p.Glu1828=) c.3546G= c.5359G= (p.Glu1787=) c.5515G= (p.Glu1839=) | |
12 | g.51806968G>T | CA384886672 | SCN8A | c.5482G>T (p.Glu1828Ter) c.3546G>T c.5359G>T (p.Glu1787Ter) c.5515G>T (p.Glu1839Ter) | dbSNP |
12 | g.51806969A>C | CA384886690 | SCN8A | c.5483A>C (p.Glu1828Ala) c.3547A>C c.5360A>C (p.Glu1787Ala) c.5516A>C (p.Glu1839Ala) | |
12 | g.51806969A>G | CA384886691 | SCN8A | c.5483A>G (p.Glu1828Gly) c.3547A>G c.5360A>G (p.Glu1787Gly) c.5516A>G (p.Glu1839Gly) | |
12 | g.51806969A>T | CA384886696 | SCN8A | c.5483A>T (p.Glu1828Val) c.3547A>T c.5360A>T (p.Glu1787Val) c.5516A>T (p.Glu1839Val) | |
12 | g.51806970G>A | CA480061866 | SCN8A | c.5484G>A (p.Glu1828=) c.3548G>A c.5361G>A (p.Glu1787=) c.5517G>A (p.Glu1839=) | gnomAD v4 |
12 | g.51806970G>C | CA384886702 | SCN8A | c.5484G>C (p.Glu1828Asp) c.3548G>C c.5361G>C (p.Glu1787Asp) c.5517G>C (p.Glu1839Asp) | |
12 | g.51806970G>T | CA384886714 | SCN8A | c.5484G>T (p.Glu1828Asp) c.3548G>T c.5361G>T (p.Glu1787Asp) c.5517G>T (p.Glu1839Asp) | gnomAD v4 |
12 | g.51806971C>A | CA384886726 | SCN8A | c.5485C>A (p.Leu1829Ile) c.3549C>A c.5362C>A (p.Leu1788Ile) c.5518C>A (p.Leu1840Ile) | |
12 | g.51806971C= | CA2036194183 | SCN8A | c.5485C= (p.Leu1829=) c.3549C= c.5362C= (p.Leu1788=) c.5518C= (p.Leu1840=) | |
12 | g.51806971C>G | CA384886745 | SCN8A | c.5485C>G (p.Leu1829Val) c.3549C>G c.5362C>G (p.Leu1788Val) c.5518C>G (p.Leu1840Val) | |
12 | g.51806971C>T | CA6571923 | SCN8A | c.5485C>T (p.Leu1829Phe) c.3549C>T c.5362C>T (p.Leu1788Phe) c.5518C>T (p.Leu1840Phe) | dbSNP ExAC |
12 | g.51806972T>A | CA384886786 | SCN8A | c.5486T>A (p.Leu1829His) c.3550T>A c.5363T>A (p.Leu1788His) c.5519T>A (p.Leu1840His) | |
12 | g.51806972T>C | CA384886761 | SCN8A | c.5486T>C (p.Leu1829Pro) c.3550T>C c.5363T>C (p.Leu1788Pro) c.5519T>C (p.Leu1840Pro) | |
12 | g.51806972T>G | CA384886780 | SCN8A | c.5486T>G (p.Leu1829Arg) c.3550T>G c.5363T>G (p.Leu1788Arg) c.5519T>G (p.Leu1840Arg) | |
12 | g.51806973C>A | CA480061869 | SCN8A | c.5487C>A (p.Leu1829=) c.3551C>A c.5364C>A (p.Leu1788=) c.5520C>A (p.Leu1840=) | |
12 | g.51806973C= | CA2036194186 | SCN8A | c.5487C= (p.Leu1829=) c.3551C= c.5364C= (p.Leu1788=) c.5520C= (p.Leu1840=) | |
12 | g.51806973C>G | CA480061870 | SCN8A | c.5487C>G (p.Leu1829=) c.3551C>G c.5364C>G (p.Leu1788=) c.5520C>G (p.Leu1840=) | dbSNP |
12 | g.51806973C>T | CA480061873 | SCN8A | c.5487C>T (p.Leu1829=) c.3551C>T c.5364C>T (p.Leu1788=) c.5520C>T (p.Leu1840=) | dbSNP COSMIC COSMIC |
12 | g.51806974A>C | CA384886801 | SCN8A | c.5488A>C (p.Ile1830Leu) c.3552A>C c.5365A>C (p.Ile1789Leu) c.5521A>C (p.Ile1841Leu) | |
12 | g.51806974A>G | CA384886804 | SCN8A | c.5488A>G (p.Ile1830Val) c.3552A>G c.5365A>G (p.Ile1789Val) c.5521A>G (p.Ile1841Val) | |
12 | g.51806974A>T | CA384886815 | SCN8A | c.5488A>T (p.Ile1830Phe) c.3552A>T c.5365A>T (p.Ile1789Phe) c.5521A>T (p.Ile1841Phe) | gnomAD v4 |
12 | g.51806975T>A | CA384886818 | SCN8A | c.5489T>A (p.Ile1830Asn) c.3553T>A c.5366T>A (p.Ile1789Asn) c.5522T>A (p.Ile1841Asn) | |
12 | g.51806975T>C | CA384886819 | SCN8A | c.5489T>C (p.Ile1830Thr) c.3553T>C c.5366T>C (p.Ile1789Thr) c.5522T>C (p.Ile1841Thr) | |
12 | g.51806975T>G | CA384886820 | SCN8A | c.5489T>G (p.Ile1830Ser) c.3553T>G c.5366T>G (p.Ile1789Ser) c.5522T>G (p.Ile1841Ser) | |
12 | g.51806976C>A | CA480061875 | SCN8A | c.5490C>A (p.Ile1830=) c.3554C>A c.5367C>A (p.Ile1789=) c.5523C>A (p.Ile1841=) | |
12 | g.51806976C= | CA2036194189 | SCN8A | c.5490C= (p.Ile1830=) c.3554C= c.5367C= (p.Ile1789=) c.5523C= (p.Ile1841=) | |
12 | g.51806976C>G | CA384886824 | SCN8A | c.5490C>G (p.Ile1830Met) c.3554C>G c.5367C>G (p.Ile1789Met) c.5523C>G (p.Ile1841Met) | |
12 | g.51806976C>T | CA6571924 | SCN8A | c.5490C>T (p.Ile1830=) c.3554C>T c.5367C>T (p.Ile1789=) c.5523C>T (p.Ile1841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806977G>A | CA6571925 | SCN8A | c.5491G>A (p.Ala1831Thr) c.3555G>A c.5368G>A (p.Ala1790Thr) c.5524G>A (p.Ala1842Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806977G>C | CA384886847 | SCN8A | c.5491G>C (p.Ala1831Pro) c.3555G>C c.5368G>C (p.Ala1790Pro) c.5524G>C (p.Ala1842Pro) | |
12 | g.51806977G= | CA2036194203 | SCN8A | c.5491G= (p.Ala1831=) c.3555G= c.5368G= (p.Ala1790=) c.5524G= (p.Ala1842=) | |
12 | g.51806977G>T | CA384886850 | SCN8A | c.5491G>T (p.Ala1831Ser) c.3555G>T c.5368G>T (p.Ala1790Ser) c.5524G>T (p.Ala1842Ser) | |
12 | g.51806978C>A | CA384886852 | SCN8A | c.5492C>A (p.Ala1831Asp) c.3556C>A c.5369C>A (p.Ala1790Asp) c.5525C>A (p.Ala1842Asp) | |
12 | g.51806978C>G | CA384886860 | SCN8A | c.5492C>G (p.Ala1831Gly) c.3556C>G c.5369C>G (p.Ala1790Gly) c.5525C>G (p.Ala1842Gly) | gnomAD v4 |
12 | g.51806978C>T | CA384886856 | SCN8A | c.5492C>T (p.Ala1831Val) c.3556C>T c.5369C>T (p.Ala1790Val) c.5525C>T (p.Ala1842Val) | |
12 | g.51806979T>A | CA480061882 | SCN8A | c.5493T>A (p.Ala1831=) c.3557T>A c.5370T>A (p.Ala1790=) c.5526T>A (p.Ala1842=) |