Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51807065_51807085dup | CA2499221741 | SCN8A | c.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg) c.5456_5476dup (p.Arg1825_Gln1826insArgGluLeuAspIleLeuArg) c.5612_5632dup (p.Arg1877_Gln1878insArgGluLeuAspIleLeuArg) | ClinVar dbSNP |
12 | g.51807072G>A | CA480062021 | SCN8A | c.5586G>A (p.Leu1862=) c.5463G>A (p.Leu1821=) c.5619G>A (p.Leu1873=) | |
12 | g.51807072G>C | CA384887799 | SCN8A | c.5586G>C (p.Leu1862Phe) c.5463G>C (p.Leu1821Phe) c.5619G>C (p.Leu1873Phe) | |
12 | g.51807072G>T | CA384887803 | SCN8A | c.5586G>T (p.Leu1862Phe) c.5463G>T (p.Leu1821Phe) c.5619G>T (p.Leu1873Phe) | |
12 | g.51807073G>A | CA236327721 | SCN8A | c.5587G>A (p.Asp1863Asn) c.5464G>A (p.Asp1822Asn) c.5620G>A (p.Asp1874Asn) | dbSNP |
12 | g.51807073G>C | CA384887810 | SCN8A | c.5587G>C (p.Asp1863His) c.5464G>C (p.Asp1822His) c.5620G>C (p.Asp1874His) | |
12 | g.51807073G= | CA2036194407 | SCN8A | c.5587G= (p.Asp1863=) c.5464G= (p.Asp1822=) c.5620G= (p.Asp1874=) | |
12 | g.51807073G>T | CA384887815 | SCN8A | c.5587G>T (p.Asp1863Tyr) c.5464G>T (p.Asp1822Tyr) c.5620G>T (p.Asp1874Tyr) | |
12 | g.51807074A>C | CA384887820 | SCN8A | c.5588A>C (p.Asp1863Ala) c.5465A>C (p.Asp1822Ala) c.5621A>C (p.Asp1874Ala) | ClinVar dbSNP |
12 | g.51807074A>G | CA384887823 | SCN8A | c.5588A>G (p.Asp1863Gly) c.5465A>G (p.Asp1822Gly) c.5621A>G (p.Asp1874Gly) | |
12 | g.51807074A>T | CA384887824 | SCN8A | c.5588A>T (p.Asp1863Val) c.5465A>T (p.Asp1822Val) c.5621A>T (p.Asp1874Val) | |
12 | g.51807075C>A | CA384887825 | SCN8A | c.5589C>A (p.Asp1863Glu) c.5466C>A (p.Asp1822Glu) c.5622C>A (p.Asp1874Glu) | dbSNP |
12 | g.51807075C= | CA2036194417 | SCN8A | c.5589C= (p.Asp1863=) c.5466C= (p.Asp1822=) c.5622C= (p.Asp1874=) | |
12 | g.51807075C>G | CA384887826 | SCN8A | c.5589C>G (p.Asp1863Glu) c.5466C>G (p.Asp1822Glu) c.5622C>G (p.Asp1874Glu) | |
12 | g.51807075C>T | CA480062024 | SCN8A | c.5589C>T (p.Asp1863=) c.5466C>T (p.Asp1822=) c.5622C>T (p.Asp1874=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807076A= | CA2036194423 | SCN8A | c.5590A= (p.Ile1864=) c.5467A= (p.Ile1823=) c.5623A= (p.Ile1875=) | |
12 | g.51807076A>C | CA384887834 | SCN8A | c.5590A>C (p.Ile1864Leu) c.5467A>C (p.Ile1823Leu) c.5623A>C (p.Ile1875Leu) | |
12 | g.51807076A>G | CA384887832 | SCN8A | c.5590A>G (p.Ile1864Val) c.5467A>G (p.Ile1823Val) c.5623A>G (p.Ile1875Val) | ClinVar dbSNP |
12 | g.51807076A>T | CA384887829 | SCN8A | c.5590A>T (p.Ile1864Phe) c.5467A>T (p.Ile1823Phe) c.5623A>T (p.Ile1875Phe) | |
12 | g.51807077T>A | CA384887839 | SCN8A | c.5591T>A (p.Ile1864Asn) c.5468T>A (p.Ile1823Asn) c.5624T>A (p.Ile1875Asn) | |
12 | g.51807077T>C | CA384887845 | SCN8A | c.5591T>C (p.Ile1864Thr) c.5468T>C (p.Ile1823Thr) c.5624T>C (p.Ile1875Thr) | |
12 | g.51807077T>G | CA384887848 | SCN8A | c.5591T>G (p.Ile1864Ser) c.5468T>G (p.Ile1823Ser) c.5624T>G (p.Ile1875Ser) | |
12 | g.51807078C>A | CA480062029 | SCN8A | c.5592C>A (p.Ile1864=) c.5469C>A (p.Ile1823=) c.5625C>A (p.Ile1875=) | gnomAD v4 |
12 | g.51807078C>G | CA384887852 | SCN8A | c.5592C>G (p.Ile1864Met) c.5469C>G (p.Ile1823Met) c.5625C>G (p.Ile1875Met) | |
12 | g.51807078C>T | CA480062030 | SCN8A | c.5592C>T (p.Ile1864=) c.5469C>T (p.Ile1823=) c.5625C>T (p.Ile1875=) | COSMIC COSMIC |
12 | g.51807079C>A | CA384887853 | SCN8A | c.5593C>A (p.Leu1865Met) c.5470C>A (p.Leu1824Met) c.5626C>A (p.Leu1876Met) | |
12 | g.51807079C= | CA2036194429 | SCN8A | c.5593C= (p.Leu1865=) c.5470C= (p.Leu1824=) c.5626C= (p.Leu1876=) | |
12 | g.51807079C>G | CA384887854 | SCN8A | c.5593C>G (p.Leu1865Val) c.5470C>G (p.Leu1824Val) c.5626C>G (p.Leu1876Val) | ClinVar dbSNP |
12 | g.51807079C>T | CA480062032 | SCN8A | c.5593C>T (p.Leu1865=) c.5470C>T (p.Leu1824=) c.5626C>T (p.Leu1876=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807080T>A | CA384887858 | SCN8A | c.5594T>A (p.Leu1865Gln) c.5471T>A (p.Leu1824Gln) c.5627T>A (p.Leu1876Gln) | |
12 | g.51807080T>C | CA384887860 | SCN8A | c.5594T>C (p.Leu1865Pro) c.5471T>C (p.Leu1824Pro) c.5627T>C (p.Leu1876Pro) | ClinVar |
12 | g.51807080T>G | CA384887862 | SCN8A | c.5594T>G (p.Leu1865Arg) c.5471T>G (p.Leu1824Arg) c.5627T>G (p.Leu1876Arg) | |
12 | g.51807081G>A | CA480062036 | SCN8A | c.5595G>A (p.Leu1865=) c.5472G>A (p.Leu1824=) c.5628G>A (p.Leu1876=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807081G>C | CA480062038 | SCN8A | c.5595G>C (p.Leu1865=) c.5472G>C (p.Leu1824=) c.5628G>C (p.Leu1876=) | |
12 | g.51807081G= | CA2036194434 | SCN8A | c.5595G= (p.Leu1865=) c.5472G= (p.Leu1824=) c.5628G= (p.Leu1876=) | |
12 | g.51807081G>T | CA480062039 | SCN8A | c.5595G>T (p.Leu1865=) c.5472G>T (p.Leu1824=) c.5628G>T (p.Leu1876=) | |
12 | g.51807082C>A | CA480062040 | SCN8A | c.5596C>A (p.Arg1866=) c.5473C>A (p.Arg1825=) c.5629C>A (p.Arg1877=) | |
12 | g.51807082C= | CA2036194443 | SCN8A | c.5596C= (p.Arg1866=) c.5473C= (p.Arg1825=) c.5629C= (p.Arg1877=) | |
12 | g.51807082C>G | CA384887867 | SCN8A | c.5596C>G (p.Arg1866Gly) c.5473C>G (p.Arg1825Gly) c.5629C>G (p.Arg1877Gly) | |
12 | g.51807082C>T | CA384887871 | SCN8A | c.5596C>T (p.Arg1866Trp) c.5473C>T (p.Arg1825Trp) c.5629C>T (p.Arg1877Trp) | ClinVar dbSNP COSMIC COSMIC |
12 | g.51807083G>A | CA384887889 | SCN8A | c.5597G>A (p.Arg1866Gln) c.5474G>A (p.Arg1825Gln) c.5630G>A (p.Arg1877Gln) | ClinVar dbSNP |
12 | g.51807083G>C | CA384887887 | SCN8A | c.5597G>C (p.Arg1866Pro) c.5474G>C (p.Arg1825Pro) c.5630G>C (p.Arg1877Pro) | |
12 | g.51807083G= | CA2036194462 | SCN8A | c.5597G= (p.Arg1866=) c.5474G= (p.Arg1825=) c.5630G= (p.Arg1877=) | |
12 | g.51807083G>T | CA384887875 | SCN8A | c.5597G>T (p.Arg1866Leu) c.5474G>T (p.Arg1825Leu) c.5630G>T (p.Arg1877Leu) | |
12 | g.51807084del | CA2573053704 | SCN8A | c.5598del (p.Gln1867SerfsTer?) c.5475del (p.Gln1826SerfsTer?) c.5631del (p.Gln1878SerfsTer?) | ClinVar dbSNP |
12 | g.51807084G>A | CA236327727 | SCN8A | c.5598G>A (p.Arg1866=) c.5475G>A (p.Arg1825=) c.5631G>A (p.Arg1877=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807084G>C | CA480062043 | SCN8A | c.5598G>C (p.Arg1866=) c.5475G>C (p.Arg1825=) c.5631G>C (p.Arg1877=) | |
12 | g.51807084G= | CA2036194465 | SCN8A | c.5598G= (p.Arg1866=) c.5475G= (p.Arg1825=) c.5631G= (p.Arg1877=) | |
12 | g.51807084G>T | CA480062044 | SCN8A | c.5598G>T (p.Arg1866=) c.5475G>T (p.Arg1825=) c.5631G>T (p.Arg1877=) | |
12 | g.51807085C>A | CA384887902 | SCN8A | c.5599C>A (p.Gln1867Lys) c.5476C>A (p.Gln1826Lys) c.5632C>A (p.Gln1878Lys) | |
12 | g.51807085C>G | CA384887906 | SCN8A | c.5599C>G (p.Gln1867Glu) c.5476C>G (p.Gln1826Glu) c.5632C>G (p.Gln1878Glu) | |
12 | g.51807085C>T | CA384887908 | SCN8A | c.5599C>T (p.Gln1867Ter) c.5476C>T (p.Gln1826Ter) c.5632C>T (p.Gln1878Ter) | |
12 | g.51807086A>C | CA384887913 | SCN8A | c.5600A>C (p.Gln1867Pro) c.5477A>C (p.Gln1826Pro) c.5633A>C (p.Gln1878Pro) | |
12 | g.51807086A>G | CA384887917 | SCN8A | c.5600A>G (p.Gln1867Arg) c.5477A>G (p.Gln1826Arg) c.5633A>G (p.Gln1878Arg) | |
12 | g.51807086A>T | CA384887920 | SCN8A | c.5600A>T (p.Gln1867Leu) c.5477A>T (p.Gln1826Leu) c.5633A>T (p.Gln1878Leu) | |
12 | g.51807087G>A | CA318243 | SCN8A | c.5601G>A (p.Gln1867=) c.5478G>A (p.Gln1826=) c.5634G>A (p.Gln1878=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807087G>C | CA384887924 | SCN8A | c.5601G>C (p.Gln1867His) c.5478G>C (p.Gln1826His) c.5634G>C (p.Gln1878His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807087G= | CA2036194471 | SCN8A | c.5601G= (p.Gln1867=) c.5478G= (p.Gln1826=) c.5634G= (p.Gln1878=) | |
12 | g.51807087G>T | CA384887925 | SCN8A | c.5601G>T (p.Gln1867His) c.5478G>T (p.Gln1826His) c.5634G>T (p.Gln1878His) | |
12 | g.51807088C>A | CA384887926 | SCN8A | c.5602C>A (p.Gln1868Lys) c.5479C>A (p.Gln1827Lys) c.5635C>A (p.Gln1879Lys) | |
12 | g.51807088C>G | CA384887927 | SCN8A | c.5602C>G (p.Gln1868Glu) c.5479C>G (p.Gln1827Glu) c.5635C>G (p.Gln1879Glu) | |
12 | g.51807088C>T | CA384887928 | SCN8A | c.5602C>T (p.Gln1868Ter) c.5479C>T (p.Gln1827Ter) c.5635C>T (p.Gln1879Ter) | |
12 | g.51807089A>C | CA384887941 | SCN8A | c.5603A>C (p.Gln1868Pro) c.5480A>C (p.Gln1827Pro) c.5636A>C (p.Gln1879Pro) | ClinVar |
12 | g.51807089A>G | CA384887960 | SCN8A | c.5603A>G (p.Gln1868Arg) c.5480A>G (p.Gln1827Arg) c.5636A>G (p.Gln1879Arg) | |
12 | g.51807089A>T | CA384887930 | SCN8A | c.5603A>T (p.Gln1868Leu) c.5480A>T (p.Gln1827Leu) c.5636A>T (p.Gln1879Leu) | |
12 | g.51807090G>A | CA480062053 | SCN8A | c.5604G>A (p.Gln1868=) c.5481G>A (p.Gln1827=) c.5637G>A (p.Gln1879=) | |
12 | g.51807090G>C | CA384887971 | SCN8A | c.5604G>C (p.Gln1868His) c.5481G>C (p.Gln1827His) c.5637G>C (p.Gln1879His) | |
12 | g.51807090G>T | CA384887968 | SCN8A | c.5604G>T (p.Gln1868His) c.5481G>T (p.Gln1827His) c.5637G>T (p.Gln1879His) | |
12 | g.51807091A>C | CA384887978 | SCN8A | c.5605A>C (p.Met1869Leu) c.5482A>C (p.Met1828Leu) c.5638A>C (p.Met1880Leu) | |
12 | g.51807091A>G | CA384887974 | SCN8A | c.5605A>G (p.Met1869Val) c.5482A>G (p.Met1828Val) c.5638A>G (p.Met1880Val) | ClinVar dbSNP |
12 | g.51807091A>T | CA384887975 | SCN8A | c.5605A>T (p.Met1869Leu) c.5482A>T (p.Met1828Leu) c.5638A>T (p.Met1880Leu) | |
12 | g.51807092T>A | CA384887986 | SCN8A | c.5606T>A (p.Met1869Lys) c.5483T>A (p.Met1828Lys) c.5639T>A (p.Met1880Lys) | |
12 | g.51807092T>C | CA16619566 | SCN8A | c.5606T>C (p.Met1869Thr) c.5483T>C (p.Met1828Thr) c.5639T>C (p.Met1880Thr) | ClinVar dbSNP |
12 | g.51807092T>G | CA384887987 | SCN8A | c.5606T>G (p.Met1869Arg) c.5483T>G (p.Met1828Arg) c.5639T>G (p.Met1880Arg) | |
12 | g.51807092T= | CA2036194479 | SCN8A | c.5606T= (p.Met1869=) c.5483T= (p.Met1828=) c.5639T= (p.Met1880=) | |
12 | g.51807093G>A | CA384887991 | SCN8A | c.5607G>A (p.Met1869Ile) c.5484G>A (p.Met1828Ile) c.5640G>A (p.Met1880Ile) | ClinVar dbSNP |
12 | g.51807093G>C | CA384887993 | SCN8A | c.5607G>C (p.Met1869Ile) c.5484G>C (p.Met1828Ile) c.5640G>C (p.Met1880Ile) | |
12 | g.51807093G= | CA2036194486 | SCN8A | c.5607G= (p.Met1869=) c.5484G= (p.Met1828=) c.5640G= (p.Met1880=) | |
12 | g.51807093G>T | CA384887996 | SCN8A | c.5607G>T (p.Met1869Ile) c.5484G>T (p.Met1828Ile) c.5640G>T (p.Met1880Ile) | |
12 | g.51807094del | CA2697559274 | SCN8A | c.5608del (p.Glu1870LysfsTer?) c.5485del (p.Glu1829LysfsTer?) c.5641del (p.Glu1881LysfsTer?) | ClinVar |
12 | g.51807094G>A | CA384888000 | SCN8A | c.5608G>A (p.Glu1870Lys) c.5485G>A (p.Glu1829Lys) c.5641G>A (p.Glu1881Lys) | |
12 | g.51807094G>C | CA384888002 | SCN8A | c.5608G>C (p.Glu1870Gln) c.5485G>C (p.Glu1829Gln) c.5641G>C (p.Glu1881Gln) | |
12 | g.51807094G= | CA2036194497 | SCN8A | c.5608G= (p.Glu1870=) c.5485G= (p.Glu1829=) c.5641G= (p.Glu1881=) | |
12 | g.51807094G>T | CA384888003 | SCN8A | c.5608G>T (p.Glu1870Ter) c.5485G>T (p.Glu1829Ter) c.5641G>T (p.Glu1881Ter) | dbSNP |
12 | g.51807095A>C | CA384888013 | SCN8A | c.5609A>C (p.Glu1870Ala) c.5486A>C (p.Glu1829Ala) c.5642A>C (p.Glu1881Ala) | |
12 | g.51807095A>G | CA384888011 | SCN8A | c.5609A>G (p.Glu1870Gly) c.5486A>G (p.Glu1829Gly) c.5642A>G (p.Glu1881Gly) | |
12 | g.51807095A>T | CA384888007 | SCN8A | c.5609A>T (p.Glu1870Val) c.5486A>T (p.Glu1829Val) c.5642A>T (p.Glu1881Val) | |
12 | g.51807096A= | CA2036194505 | SCN8A | c.5610A= (p.Glu1870=) c.5487A= (p.Glu1829=) c.5643A= (p.Glu1881=) | |
12 | g.51807096A>C | CA384888017 | SCN8A | c.5610A>C (p.Glu1870Asp) c.5487A>C (p.Glu1829Asp) c.5643A>C (p.Glu1881Asp) | |
12 | g.51807096A>G | CA480062067 | SCN8A | c.5610A>G (p.Glu1870=) c.5487A>G (p.Glu1829=) c.5643A>G (p.Glu1881=) | gnomAD v3 gnomAD v4 |
12 | g.51807096A>T | CA10586301 | SCN8A | c.5610A>T (p.Glu1870Asp) c.5487A>T (p.Glu1829Asp) c.5643A>T (p.Glu1881Asp) | ClinVar dbSNP |
12 | g.51807097G>A | CA384888031 | SCN8A | c.5611G>A (p.Glu1871Lys) c.5488G>A (p.Glu1830Lys) c.5644G>A (p.Glu1882Lys) | |
12 | g.51807097G>C | CA384888034 | SCN8A | c.5611G>C (p.Glu1871Gln) c.5488G>C (p.Glu1830Gln) c.5644G>C (p.Glu1882Gln) | |
12 | g.51807097G= | CA2036194514 | SCN8A | c.5611G= (p.Glu1871=) c.5488G= (p.Glu1830=) c.5644G= (p.Glu1882=) | |
12 | g.51807097G>T | CA384888037 | SCN8A | c.5611G>T (p.Glu1871Ter) c.5488G>T (p.Glu1830Ter) c.5644G>T (p.Glu1882Ter) | dbSNP |
12 | g.51807098A>C | CA384888040 | SCN8A | c.5612A>C (p.Glu1871Ala) c.5489A>C (p.Glu1830Ala) c.5645A>C (p.Glu1882Ala) | |
12 | g.51807098A>G | CA384888042 | SCN8A | c.5612A>G (p.Glu1871Gly) c.5489A>G (p.Glu1830Gly) c.5645A>G (p.Glu1882Gly) | |
12 | g.51807098A>T | CA384888046 | SCN8A | c.5612A>T (p.Glu1871Val) c.5489A>T (p.Glu1830Val) c.5645A>T (p.Glu1882Val) | |
12 | g.51807099G>A | CA480062072 | SCN8A | c.5613G>A (p.Glu1871=) c.5490G>A (p.Glu1830=) c.5646G>A (p.Glu1882=) | gnomAD v4 |
12 | g.51807099G>C | CA384888049 | SCN8A | c.5613G>C (p.Glu1871Asp) c.5490G>C (p.Glu1830Asp) c.5646G>C (p.Glu1882Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807099G= | CA2036194518 | SCN8A | c.5613G= (p.Glu1871=) c.5490G= (p.Glu1830=) c.5646G= (p.Glu1882=) | |
12 | g.51807099G>T | CA384888052 | SCN8A | c.5613G>T (p.Glu1871Asp) c.5490G>T (p.Glu1830Asp) c.5646G>T (p.Glu1882Asp) | |
12 | g.51807100C>A | CA480062074 | SCN8A | c.5614C>A (p.Arg1872=) c.5491C>A (p.Arg1831=) c.5647C>A (p.Arg1883=) | |
12 | g.51807100C= | CA2036194535 | SCN8A | c.5614C= (p.Arg1872=) c.5491C= (p.Arg1831=) c.5647C= (p.Arg1883=) | |
12 | g.51807100C>G | CA384888065 | SCN8A | c.5614C>G (p.Arg1872Gly) c.5491C>G (p.Arg1831Gly) c.5647C>G (p.Arg1883Gly) | ClinVar dbSNP |
12 | g.51807100C>T | CA318300 | SCN8A | c.5614C>T (p.Arg1872Trp) c.5491C>T (p.Arg1831Trp) c.5647C>T (p.Arg1883Trp) | ClinVar dbSNP COSMIC COSMIC |
12 | g.51807101G>A | CA10586302 | SCN8A | c.5615G>A (p.Arg1872Gln) c.5492G>A (p.Arg1831Gln) c.5648G>A (p.Arg1883Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807101G>C | CA384888077 | SCN8A | c.5615G>C (p.Arg1872Pro) c.5492G>C (p.Arg1831Pro) c.5648G>C (p.Arg1883Pro) | |
12 | g.51807101G= | CA2036194555 | SCN8A | c.5615G= (p.Arg1872=) c.5492G= (p.Arg1831=) c.5648G= (p.Arg1883=) | |
12 | g.51807101G>T | CA318301 | SCN8A | c.5615G>T (p.Arg1872Leu) c.5492G>T (p.Arg1831Leu) c.5648G>T (p.Arg1883Leu) | ClinVar dbSNP |
12 | g.51807102G>A | CA480062079 | SCN8A | c.5616G>A (p.Arg1872=) c.5493G>A (p.Arg1831=) c.5649G>A (p.Arg1883=) | |
12 | g.51807102G>C | CA480062077 | SCN8A | c.5616G>C (p.Arg1872=) c.5493G>C (p.Arg1831=) c.5649G>C (p.Arg1883=) | |
12 | g.51807102G>T | CA480062076 | SCN8A | c.5616G>T (p.Arg1872=) c.5493G>T (p.Arg1831=) c.5649G>T (p.Arg1883=) | |
12 | g.51807103T>A | CA384888082 | SCN8A | c.5617T>A (p.Phe1873Ile) c.5494T>A (p.Phe1832Ile) c.5650T>A (p.Phe1884Ile) | |
12 | g.51807103T>C | CA384888086 | SCN8A | c.5617T>C (p.Phe1873Leu) c.5494T>C (p.Phe1832Leu) c.5650T>C (p.Phe1884Leu) | |
12 | g.51807103T>G | CA384888088 | SCN8A | c.5617T>G (p.Phe1873Val) c.5494T>G (p.Phe1832Val) c.5650T>G (p.Phe1884Val) | dbSNP |
12 | g.51807103T= | CA2036194568 | SCN8A | c.5617T= (p.Phe1873=) c.5494T= (p.Phe1832=) c.5650T= (p.Phe1884=) | |
12 | g.51807104T>A | CA384888092 | SCN8A | c.5618T>A (p.Phe1873Tyr) c.5495T>A (p.Phe1832Tyr) c.5651T>A (p.Phe1884Tyr) | |
12 | g.51807104T>C | CA384888095 | SCN8A | c.5618T>C (p.Phe1873Ser) c.5495T>C (p.Phe1832Ser) c.5651T>C (p.Phe1884Ser) | |
12 | g.51807104T>G | CA384888097 | SCN8A | c.5618T>G (p.Phe1873Cys) c.5495T>G (p.Phe1832Cys) c.5651T>G (p.Phe1884Cys) | |
12 | g.51807105_51807107dup | CA2697559275 | SCN8A | c.5619_5621dup (p.Val1874_Ala1875insVal) c.5496_5498dup (p.Val1833_Ala1834insVal) c.5652_5654dup (p.Val1885_Ala1886insVal) | ClinVar |
12 | g.51807105C>A | CA384888102 | SCN8A | c.5619C>A (p.Phe1873Leu) c.5496C>A (p.Phe1832Leu) c.5652C>A (p.Phe1884Leu) | |
12 | g.51807105C= | CA2036194583 | SCN8A | c.5619C= (p.Phe1873=) c.5496C= (p.Phe1832=) c.5652C= (p.Phe1884=) | |
12 | g.51807105C>G | CA384888106 | SCN8A | c.5619C>G (p.Phe1873Leu) c.5496C>G (p.Phe1832Leu) c.5652C>G (p.Phe1884Leu) | |
12 | g.51807105C>T | CA6571932 | SCN8A | c.5619C>T (p.Phe1873=) c.5496C>T (p.Phe1832=) c.5652C>T (p.Phe1884=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807106G>A | CA6571933 | SCN8A | c.5620G>A (p.Val1874Met) c.5497G>A (p.Val1833Met) c.5653G>A (p.Val1885Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807106G>C | CA384888120 | SCN8A | c.5620G>C (p.Val1874Leu) c.5497G>C (p.Val1833Leu) c.5653G>C (p.Val1885Leu) | ClinVar dbSNP gnomAD v4 |
12 | g.51807106G= | CA2036194596 | SCN8A | c.5620G= (p.Val1874=) c.5497G= (p.Val1833=) c.5653G= (p.Val1885=) | |
12 | g.51807106G>T | CA384888123 | SCN8A | c.5620G>T (p.Val1874Leu) c.5497G>T (p.Val1833Leu) c.5653G>T (p.Val1885Leu) | |
12 | g.51807107T>A | CA384888132 | SCN8A | c.5621T>A (p.Val1874Glu) c.5498T>A (p.Val1833Glu) c.5654T>A (p.Val1885Glu) | |
12 | g.51807107T>C | CA384888134 | SCN8A | c.5621T>C (p.Val1874Ala) c.5498T>C (p.Val1833Ala) c.5654T>C (p.Val1885Ala) | |
12 | g.51807107T>G | CA384888128 | SCN8A | c.5621T>G (p.Val1874Gly) c.5498T>G (p.Val1833Gly) c.5654T>G (p.Val1885Gly) | ClinVar dbSNP |
12 | g.51807107T= | CA2036194606 | SCN8A | c.5621T= (p.Val1874=) c.5498T= (p.Val1833=) c.5654T= (p.Val1885=) | |
12 | g.51807108G>A | CA480062087 | SCN8A | c.5622G>A (p.Val1874=) c.5499G>A (p.Val1833=) c.5655G>A (p.Val1885=) | |
12 | g.51807108G>C | CA480062089 | SCN8A | c.5622G>C (p.Val1874=) c.5499G>C (p.Val1833=) c.5655G>C (p.Val1885=) | |
12 | g.51807108G>T | CA480062091 | SCN8A | c.5622G>T (p.Val1874=) c.5499G>T (p.Val1833=) c.5655G>T (p.Val1885=) | |
12 | g.51807109G>A | CA384888142 | SCN8A | c.5623G>A (p.Ala1875Thr) c.5500G>A (p.Ala1834Thr) c.5656G>A (p.Ala1886Thr) | dbSNP gnomAD v2 COSMIC COSMIC |
12 | g.51807109G>C | CA384888157 | SCN8A | c.5623G>C (p.Ala1875Pro) c.5500G>C (p.Ala1834Pro) c.5656G>C (p.Ala1886Pro) | |
12 | g.51807109G= | CA2036194615 | SCN8A | c.5623G= (p.Ala1875=) c.5500G= (p.Ala1834=) c.5656G= (p.Ala1886=) | |
12 | g.51807109G>T | CA384888161 | SCN8A | c.5623G>T (p.Ala1875Ser) c.5500G>T (p.Ala1834Ser) c.5656G>T (p.Ala1886Ser) | gnomAD v4 |
12 | g.51807110C>A | CA384888165 | SCN8A | c.5624C>A (p.Ala1875Glu) c.5501C>A (p.Ala1834Glu) c.5657C>A (p.Ala1886Glu) | |
12 | g.51807110C= | CA2036194636 | SCN8A | c.5624C= (p.Ala1875=) c.5501C= (p.Ala1834=) c.5657C= (p.Ala1886=) | |
12 | g.51807110C>G | CA384888167 | SCN8A | c.5624C>G (p.Ala1875Gly) c.5501C>G (p.Ala1834Gly) c.5657C>G (p.Ala1886Gly) | |
12 | g.51807110C>T | CA236327758 | SCN8A | c.5624C>T (p.Ala1875Val) c.5501C>T (p.Ala1834Val) c.5657C>T (p.Ala1886Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807111A= | CA2036194641 | SCN8A | c.5625A= (p.Ala1875=) c.5502A= (p.Ala1834=) c.5658A= (p.Ala1886=) | |
12 | g.51807111A>C | CA480062093 | SCN8A | c.5625A>C (p.Ala1875=) c.5502A>C (p.Ala1834=) c.5658A>C (p.Ala1886=) | |
12 | g.51807111A>G | CA480062094 | SCN8A | c.5625A>G (p.Ala1875=) c.5502A>G (p.Ala1834=) c.5658A>G (p.Ala1886=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807111A>T | CA480062095 | SCN8A | c.5625A>T (p.Ala1875=) c.5502A>T (p.Ala1834=) c.5658A>T (p.Ala1886=) | |
12 | g.51807112T>A | CA384888178 | SCN8A | c.5626T>A (p.Ser1876Thr) c.5503T>A (p.Ser1835Thr) c.5659T>A (p.Ser1887Thr) | gnomAD v4 |
12 | g.51807112T>C | CA384888180 | SCN8A | c.5626T>C (p.Ser1876Pro) c.5503T>C (p.Ser1835Pro) c.5659T>C (p.Ser1887Pro) | |
12 | g.51807112T>G | CA384888179 | SCN8A | c.5626T>G (p.Ser1876Ala) c.5503T>G (p.Ser1835Ala) c.5659T>G (p.Ser1887Ala) | |
12 | g.51807113C>A | CA384888182 | SCN8A | c.5627C>A (p.Ser1876Tyr) c.5504C>A (p.Ser1835Tyr) c.5660C>A (p.Ser1887Tyr) | |
12 | g.51807113C>G | CA384888184 | SCN8A | c.5627C>G (p.Ser1876Cys) c.5504C>G (p.Ser1835Cys) c.5660C>G (p.Ser1887Cys) | |
12 | g.51807113C>T | CA384888193 | SCN8A | c.5627C>T (p.Ser1876Phe) c.5504C>T (p.Ser1835Phe) c.5660C>T (p.Ser1887Phe) | |
12 | g.51807114C>A | CA480062101 | SCN8A | c.5628C>A (p.Ser1876=) c.5505C>A (p.Ser1835=) c.5661C>A (p.Ser1887=) | |
12 | g.51807114C= | CA2036194646 | SCN8A | c.5628C= (p.Ser1876=) c.5505C= (p.Ser1835=) c.5661C= (p.Ser1887=) | |
12 | g.51807114C>G | CA480062102 | SCN8A | c.5628C>G (p.Ser1876=) c.5505C>G (p.Ser1835=) c.5661C>G (p.Ser1887=) | |
12 | g.51807114C>T | CA6571934 | SCN8A | c.5628C>T (p.Ser1876=) c.5505C>T (p.Ser1835=) c.5661C>T (p.Ser1887=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807115A>C | CA384888206 | SCN8A | c.5629A>C (p.Asn1877His) c.5506A>C (p.Asn1836His) c.5662A>C (p.Asn1888His) | |
12 | g.51807115A>G | CA384888202 | SCN8A | c.5629A>G (p.Asn1877Asp) c.5506A>G (p.Asn1836Asp) c.5662A>G (p.Asn1888Asp) | gnomAD v4 |
12 | g.51807115A>T | CA384888198 | SCN8A | c.5629A>T (p.Asn1877Tyr) c.5506A>T (p.Asn1836Tyr) c.5662A>T (p.Asn1888Tyr) | |
12 | g.51807116A= | CA2036194651 | SCN8A | c.5630A= (p.Asn1877=) c.5507A= (p.Asn1836=) c.5663A= (p.Asn1888=) | |
12 | g.51807116A>C | CA384888210 | SCN8A | c.5630A>C (p.Asn1877Thr) c.5507A>C (p.Asn1836Thr) c.5663A>C (p.Asn1888Thr) | |
12 | g.51807116A>G | CA289040 | SCN8A | c.5630A>G (p.Asn1877Ser) c.5507A>G (p.Asn1836Ser) c.5663A>G (p.Asn1888Ser) | ClinVar dbSNP |
12 | g.51807116A>T | CA384888214 | SCN8A | c.5630A>T (p.Asn1877Ile) c.5507A>T (p.Asn1836Ile) c.5663A>T (p.Asn1888Ile) | |
12 | g.51807117T>A | CA384888217 | SCN8A | c.5631T>A (p.Asn1877Lys) c.5508T>A (p.Asn1836Lys) c.5664T>A (p.Asn1888Lys) | |
12 | g.51807117T>C | CA480062105 | SCN8A | c.5631T>C (p.Asn1877=) c.5508T>C (p.Asn1836=) c.5664T>C (p.Asn1888=) | |
12 | g.51807117T>G | CA384888219 | SCN8A | c.5631T>G (p.Asn1877Lys) c.5508T>G (p.Asn1836Lys) c.5664T>G (p.Asn1888Lys) | |
12 | g.51807118C>A | CA384888221 | SCN8A | c.5632C>A (p.Pro1878Thr) c.5509C>A (p.Pro1837Thr) c.5665C>A (p.Pro1889Thr) | |
12 | g.51807118C>G | CA384888225 | SCN8A | c.5632C>G (p.Pro1878Ala) c.5509C>G (p.Pro1837Ala) c.5665C>G (p.Pro1889Ala) | |
12 | g.51807118C>T | CA384888226 | SCN8A | c.5632C>T (p.Pro1878Ser) c.5509C>T (p.Pro1837Ser) c.5665C>T (p.Pro1889Ser) | COSMIC COSMIC |
12 | g.51807119C>A | CA384888227 | SCN8A | c.5633C>A (p.Pro1878His) c.5510C>A (p.Pro1837His) c.5666C>A (p.Pro1889His) | |
12 | g.51807119C>G | CA384888230 | SCN8A | c.5633C>G (p.Pro1878Arg) c.5510C>G (p.Pro1837Arg) c.5666C>G (p.Pro1889Arg) | ClinVar |
12 | g.51807119C>T | CA384888231 | SCN8A | c.5633C>T (p.Pro1878Leu) c.5510C>T (p.Pro1837Leu) c.5666C>T (p.Pro1889Leu) | |
12 | g.51807120T>A | CA480062111 | SCN8A | c.5634T>A (p.Pro1878=) c.5511T>A (p.Pro1837=) c.5667T>A (p.Pro1889=) | |
12 | g.51807120T>C | CA480062116 | SCN8A | c.5634T>C (p.Pro1878=) c.5511T>C (p.Pro1837=) c.5667T>C (p.Pro1889=) | |
12 | g.51807120T>G | CA480062113 | SCN8A | c.5634T>G (p.Pro1878=) c.5511T>G (p.Pro1837=) c.5667T>G (p.Pro1889=) | |
12 | g.51807121T>A | CA384888235 | SCN8A | c.5635T>A (p.Ser1879Thr) c.5512T>A (p.Ser1838Thr) c.5668T>A (p.Ser1890Thr) | |
12 | g.51807121T>C | CA384888238 | SCN8A | c.5635T>C (p.Ser1879Pro) c.5512T>C (p.Ser1838Pro) c.5668T>C (p.Ser1890Pro) | |
12 | g.51807121T>G | CA384888240 | SCN8A | c.5635T>G (p.Ser1879Ala) c.5512T>G (p.Ser1838Ala) c.5668T>G (p.Ser1890Ala) | |
12 | g.51807122C>A | CA384888251 | SCN8A | c.5636C>A (p.Ser1879Tyr) c.5513C>A (p.Ser1838Tyr) c.5669C>A (p.Ser1890Tyr) | ClinVar |
12 | g.51807122C>G | CA384888243 | SCN8A | c.5636C>G (p.Ser1879Cys) c.5513C>G (p.Ser1838Cys) c.5669C>G (p.Ser1890Cys) | |
12 | g.51807122C>T | CA384888247 | SCN8A | c.5636C>T (p.Ser1879Phe) c.5513C>T (p.Ser1838Phe) c.5669C>T (p.Ser1890Phe) | ClinVar COSMIC COSMIC |
12 | g.51807123C>A | CA480062125 | SCN8A | c.5637C>A (p.Ser1879=) c.5514C>A (p.Ser1838=) c.5670C>A (p.Ser1890=) | |
12 | g.51807123C>G | CA480062126 | SCN8A | c.5637C>G (p.Ser1879=) c.5514C>G (p.Ser1838=) c.5670C>G (p.Ser1890=) | |
12 | g.51807123C>T | CA480062127 | SCN8A | c.5637C>T (p.Ser1879=) c.5514C>T (p.Ser1838=) c.5670C>T (p.Ser1890=) | |
12 | g.51807124A= | CA2036194654 | SCN8A | c.5638A= (p.Lys1880=) c.5515A= (p.Lys1839=) c.5671A= (p.Lys1891=) | |
12 | g.51807124A>C | CA384888253 | SCN8A | c.5638A>C (p.Lys1880Gln) c.5515A>C (p.Lys1839Gln) c.5671A>C (p.Lys1891Gln) | |
12 | g.51807124A>G | CA384888255 | SCN8A | c.5638A>G (p.Lys1880Glu) c.5515A>G (p.Lys1839Glu) c.5671A>G (p.Lys1891Glu) | ClinVar dbSNP |
12 | g.51807124A>T | CA384888257 | SCN8A | c.5638A>T (p.Lys1880Ter) c.5515A>T (p.Lys1839Ter) c.5671A>T (p.Lys1891Ter) | dbSNP |
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 |