Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51807011T>A | CA384887181 | SCN8A | c.5525T>A (p.Ile1842Asn) c.5402T>A (p.Ile1801Asn) c.5558T>A (p.Ile1853Asn) | |
12 | g.51807011T>C | CA384887184 | SCN8A | c.5525T>C (p.Ile1842Thr) c.5402T>C (p.Ile1801Thr) c.5558T>C (p.Ile1853Thr) | |
12 | g.51807011T>G | CA384887186 | SCN8A | c.5525T>G (p.Ile1842Ser) c.5402T>G (p.Ile1801Ser) c.5558T>G (p.Ile1853Ser) | |
12 | g.51807011dup | CA2618841944 | SCN8A | c.5525dup (p.His1843ProfsTer17) c.5402dup (p.His1802ProfsTer17) c.5558dup (p.His1854ProfsTer17) | gnomAD v4 |
12 | g.51807012C>A | CA480061932 | SCN8A | c.5526C>A (p.Ile1842=) c.5403C>A (p.Ile1801=) c.5559C>A (p.Ile1853=) | |
12 | g.51807012C>G | CA384887195 | SCN8A | c.5526C>G (p.Ile1842Met) c.5403C>G (p.Ile1801Met) c.5559C>G (p.Ile1853Met) | |
12 | g.51807012C>T | CA480061933 | SCN8A | c.5526C>T (p.Ile1842=) c.5403C>T (p.Ile1801=) c.5559C>T (p.Ile1853=) | |
12 | g.51807013C>A | CA384887199 | SCN8A | c.5527C>A (p.His1843Asn) c.5404C>A (p.His1802Asn) c.5560C>A (p.His1854Asn) | |
12 | g.51807013C>G | CA384887201 | SCN8A | c.5527C>G (p.His1843Asp) c.5404C>G (p.His1802Asp) c.5560C>G (p.His1854Asp) | |
12 | g.51807013C>T | CA384887200 | SCN8A | c.5527C>T (p.His1843Tyr) c.5404C>T (p.His1802Tyr) c.5560C>T (p.His1854Tyr) | gnomAD v4 |
12 | g.51807014A>C | CA384887206 | SCN8A | c.5528A>C (p.His1843Pro) c.5405A>C (p.His1802Pro) c.5561A>C (p.His1854Pro) | ClinVar |
12 | g.51807014A>G | CA384887213 | SCN8A | c.5528A>G (p.His1843Arg) c.5405A>G (p.His1802Arg) c.5561A>G (p.His1854Arg) | |
12 | g.51807014A>T | CA384887223 | SCN8A | c.5528A>T (p.His1843Leu) c.5405A>T (p.His1802Leu) c.5561A>T (p.His1854Leu) | |
12 | g.51807015C>A | CA384887227 | SCN8A | c.5529C>A (p.His1843Gln) c.5406C>A (p.His1802Gln) c.5562C>A (p.His1854Gln) | |
12 | g.51807015C>G | CA384887230 | SCN8A | c.5529C>G (p.His1843Gln) c.5406C>G (p.His1802Gln) c.5562C>G (p.His1854Gln) | |
12 | g.51807015C>T | CA480061935 | SCN8A | c.5529C>T (p.His1843=) c.5406C>T (p.His1802=) c.5562C>T (p.His1854=) | |
12 | g.51807016T>A | CA384887237 | SCN8A | c.5530T>A (p.Cys1844Ser) c.5407T>A (p.Cys1803Ser) c.5563T>A (p.Cys1855Ser) | |
12 | g.51807016T>C | CA384887240 | SCN8A | c.5530T>C (p.Cys1844Arg) c.5407T>C (p.Cys1803Arg) c.5563T>C (p.Cys1855Arg) | |
12 | g.51807016T>G | CA384887241 | SCN8A | c.5530T>G (p.Cys1844Gly) c.5407T>G (p.Cys1803Gly) c.5563T>G (p.Cys1855Gly) | |
12 | g.51807017G>A | CA384887242 | SCN8A | c.5531G>A (p.Cys1844Tyr) c.5408G>A (p.Cys1803Tyr) c.5564G>A (p.Cys1855Tyr) | |
12 | g.51807017G>C | CA384887245 | SCN8A | c.5531G>C (p.Cys1844Ser) c.5408G>C (p.Cys1803Ser) c.5564G>C (p.Cys1855Ser) | ClinVar |
12 | g.51807017G>T | CA384887246 | SCN8A | c.5531G>T (p.Cys1844Phe) c.5408G>T (p.Cys1803Phe) c.5564G>T (p.Cys1855Phe) | |
12 | g.51807018C>A | CA384887253 | SCN8A | c.5532C>A (p.Cys1844Ter) c.5409C>A (p.Cys1803Ter) c.5565C>A (p.Cys1855Ter) | dbSNP |
12 | g.51807018C= | CA2036194264 | SCN8A | c.5532C= (p.Cys1844=) c.5409C= (p.Cys1803=) c.5565C= (p.Cys1855=) | |
12 | g.51807018C>G | CA384887258 | SCN8A | c.5532C>G (p.Cys1844Trp) c.5409C>G (p.Cys1803Trp) c.5565C>G (p.Cys1855Trp) | |
12 | g.51807018C>T | CA480061938 | SCN8A | c.5532C>T (p.Cys1844=) c.5409C>T (p.Cys1803=) c.5565C>T (p.Cys1855=) | |
12 | g.51807019T>A | CA384887264 | SCN8A | c.5533T>A (p.Leu1845Met) c.5410T>A (p.Leu1804Met) c.5566T>A (p.Leu1856Met) | |
12 | g.51807019T>C | CA480061939 | SCN8A | c.5533T>C (p.Leu1845=) c.5410T>C (p.Leu1804=) c.5566T>C (p.Leu1856=) | |
12 | g.51807019T>G | CA384887267 | SCN8A | c.5533T>G (p.Leu1845Val) c.5410T>G (p.Leu1804Val) c.5566T>G (p.Leu1856Val) | |
12 | g.51807020T>A | CA384887272 | SCN8A | c.5534T>A (p.Leu1845Ter) c.5411T>A (p.Leu1804Ter) c.5567T>A (p.Leu1856Ter) | dbSNP |
12 | g.51807020T>C | CA384887278 | SCN8A | c.5534T>C (p.Leu1845Ser) c.5411T>C (p.Leu1804Ser) c.5567T>C (p.Leu1856Ser) | ClinVar dbSNP |
12 | g.51807020T>G | CA384887281 | SCN8A | c.5534T>G (p.Leu1845Trp) c.5411T>G (p.Leu1804Trp) c.5567T>G (p.Leu1856Trp) | |
12 | g.51807020T= | CA2036194268 | SCN8A | c.5534T= (p.Leu1845=) c.5411T= (p.Leu1804=) c.5567T= (p.Leu1856=) | |
12 | g.51807021G>A | CA480061940 | SCN8A | c.5535G>A (p.Leu1845=) c.5412G>A (p.Leu1804=) c.5568G>A (p.Leu1856=) | COSMIC |
12 | g.51807021G>C | CA384887284 | SCN8A | c.5535G>C (p.Leu1845Phe) c.5412G>C (p.Leu1804Phe) c.5568G>C (p.Leu1856Phe) | |
12 | g.51807021G>T | CA384887289 | SCN8A | c.5535G>T (p.Leu1845Phe) c.5412G>T (p.Leu1804Phe) c.5568G>T (p.Leu1856Phe) | |
12 | g.51807022G>A | CA384887294 | SCN8A | c.5536G>A (p.Asp1846Asn) c.5413G>A (p.Asp1805Asn) c.5569G>A (p.Asp1857Asn) | |
12 | g.51807022G>C | CA384887298 | SCN8A | c.5536G>C (p.Asp1846His) c.5413G>C (p.Asp1805His) c.5569G>C (p.Asp1857His) | |
12 | g.51807022G>T | CA384887301 | SCN8A | c.5536G>T (p.Asp1846Tyr) c.5413G>T (p.Asp1805Tyr) c.5569G>T (p.Asp1857Tyr) | |
12 | g.51807023A>C | CA384887302 | SCN8A | c.5537A>C (p.Asp1846Ala) c.5414A>C (p.Asp1805Ala) c.5570A>C (p.Asp1857Ala) | |
12 | g.51807023A>G | CA384887303 | SCN8A | c.5537A>G (p.Asp1846Gly) c.5414A>G (p.Asp1805Gly) c.5570A>G (p.Asp1857Gly) | |
12 | g.51807023A>T | CA384887308 | SCN8A | c.5537A>T (p.Asp1846Val) c.5414A>T (p.Asp1805Val) c.5570A>T (p.Asp1857Val) | |
12 | g.51807024C>A | CA384887325 | SCN8A | c.5538C>A (p.Asp1846Glu) c.5415C>A (p.Asp1805Glu) c.5571C>A (p.Asp1857Glu) | ClinVar dbSNP |
12 | g.51807024C= | CA2036194269 | SCN8A | c.5538C= (p.Asp1846=) c.5415C= (p.Asp1805=) c.5571C= (p.Asp1857=) | |
12 | g.51807024C>G | CA384887312 | SCN8A | c.5538C>G (p.Asp1846Glu) c.5415C>G (p.Asp1805Glu) c.5571C>G (p.Asp1857Glu) | |
12 | g.51807024C>T | CA480061943 | SCN8A | c.5538C>T (p.Asp1846=) c.5415C>T (p.Asp1805=) c.5571C>T (p.Asp1857=) | dbSNP |
12 | g.51807025A>C | CA384887332 | SCN8A | c.5539A>C (p.Ile1847Leu) c.5416A>C (p.Ile1806Leu) c.5572A>C (p.Ile1858Leu) | |
12 | g.51807025A>G | CA384887336 | SCN8A | c.5539A>G (p.Ile1847Val) c.5416A>G (p.Ile1806Val) c.5572A>G (p.Ile1858Val) | |
12 | g.51807025A>T | CA384887340 | SCN8A | c.5539A>T (p.Ile1847Phe) c.5416A>T (p.Ile1806Phe) c.5572A>T (p.Ile1858Phe) | |
12 | g.51807026T>A | CA384887345 | SCN8A | c.5540T>A (p.Ile1847Asn) c.5417T>A (p.Ile1806Asn) c.5573T>A (p.Ile1858Asn) | |
12 | g.51807026T>C | CA384887349 | SCN8A | c.5540T>C (p.Ile1847Thr) c.5417T>C (p.Ile1806Thr) c.5573T>C (p.Ile1858Thr) | |
12 | g.51807026T>G | CA384887354 | SCN8A | c.5540T>G (p.Ile1847Ser) c.5417T>G (p.Ile1806Ser) c.5573T>G (p.Ile1858Ser) | |
12 | g.51807027C>A | CA480061947 | SCN8A | c.5541C>A (p.Ile1847=) c.5418C>A (p.Ile1806=) c.5574C>A (p.Ile1858=) | |
12 | g.51807027C>G | CA384887357 | SCN8A | c.5541C>G (p.Ile1847Met) c.5418C>G (p.Ile1806Met) c.5574C>G (p.Ile1858Met) | |
12 | g.51807027C>T | CA480061949 | SCN8A | c.5541C>T (p.Ile1847=) c.5418C>T (p.Ile1806=) c.5574C>T (p.Ile1858=) | |
12 | g.51807028C>A | CA384887361 | SCN8A | c.5542C>A (p.Leu1848Ile) c.5419C>A (p.Leu1807Ile) c.5575C>A (p.Leu1859Ile) | |
12 | g.51807028C>G | CA384887362 | SCN8A | c.5542C>G (p.Leu1848Val) c.5419C>G (p.Leu1807Val) c.5575C>G (p.Leu1859Val) | |
12 | g.51807028C>T | CA384887363 | SCN8A | c.5542C>T (p.Leu1848Phe) c.5419C>T (p.Leu1807Phe) c.5575C>T (p.Leu1859Phe) | |
12 | g.51807029T>A | CA384887369 | SCN8A | c.5543T>A (p.Leu1848His) c.5420T>A (p.Leu1807His) c.5576T>A (p.Leu1859His) | |
12 | g.51807029T>C | CA384887372 | SCN8A | c.5543T>C (p.Leu1848Pro) c.5420T>C (p.Leu1807Pro) c.5576T>C (p.Leu1859Pro) | |
12 | g.51807029T>G | CA384887376 | SCN8A | c.5543T>G (p.Leu1848Arg) c.5420T>G (p.Leu1807Arg) c.5576T>G (p.Leu1859Arg) | |
12 | g.51807030T>A | CA480061953 | SCN8A | c.5544T>A (p.Leu1848=) c.5421T>A (p.Leu1807=) c.5577T>A (p.Leu1859=) | |
12 | g.51807030T>C | CA236327674 | SCN8A | c.5544T>C (p.Leu1848=) c.5421T>C (p.Leu1807=) c.5577T>C (p.Leu1859=) | dbSNP gnomAD v4 |
12 | g.51807030T>G | CA480061952 | SCN8A | c.5544T>G (p.Leu1848=) c.5421T>G (p.Leu1807=) c.5577T>G (p.Leu1859=) | |
12 | g.51807030T= | CA2036194272 | SCN8A | c.5544T= (p.Leu1848=) c.5421T= (p.Leu1807=) c.5577T= (p.Leu1859=) | |
12 | g.51807031T>A | CA384887385 | SCN8A | c.5545T>A (p.Phe1849Ile) c.5422T>A (p.Phe1808Ile) c.5578T>A (p.Phe1860Ile) | |
12 | g.51807031T>C | CA384887389 | SCN8A | c.5545T>C (p.Phe1849Leu) c.5422T>C (p.Phe1808Leu) c.5578T>C (p.Phe1860Leu) | |
12 | g.51807031T>G | CA384887382 | SCN8A | c.5545T>G (p.Phe1849Val) c.5422T>G (p.Phe1808Val) c.5578T>G (p.Phe1860Val) | |
12 | g.51807032T>A | CA384887398 | SCN8A | c.5546T>A (p.Phe1849Tyr) c.5423T>A (p.Phe1808Tyr) c.5579T>A (p.Phe1860Tyr) | |
12 | g.51807032T>C | CA384887394 | SCN8A | c.5546T>C (p.Phe1849Ser) c.5423T>C (p.Phe1808Ser) c.5579T>C (p.Phe1860Ser) | |
12 | g.51807032T>G | CA384887399 | SCN8A | c.5546T>G (p.Phe1849Cys) c.5423T>G (p.Phe1808Cys) c.5579T>G (p.Phe1860Cys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807032T= | CA2036194277 | SCN8A | c.5546T= (p.Phe1849=) c.5423T= (p.Phe1808=) c.5579T= (p.Phe1860=) | |
12 | g.51807033T>A | CA384887400 | SCN8A | c.5547T>A (p.Phe1849Leu) c.5424T>A (p.Phe1808Leu) c.5580T>A (p.Phe1860Leu) | |
12 | g.51807033T>C | CA480061957 | SCN8A | c.5547T>C (p.Phe1849=) c.5424T>C (p.Phe1808=) c.5580T>C (p.Phe1860=) | |
12 | g.51807033T>G | CA384887401 | SCN8A | c.5547T>G (p.Phe1849Leu) c.5424T>G (p.Phe1808Leu) c.5580T>G (p.Phe1860Leu) | ClinVar dbSNP |
12 | g.51807034G>A | CA384887404 | SCN8A | c.5548G>A (p.Ala1850Thr) c.5425G>A (p.Ala1809Thr) c.5581G>A (p.Ala1861Thr) | |
12 | g.51807034G>C | CA384887406 | SCN8A | c.5548G>C (p.Ala1850Pro) c.5425G>C (p.Ala1809Pro) c.5581G>C (p.Ala1861Pro) | |
12 | g.51807034G>T | CA384887405 | SCN8A | c.5548G>T (p.Ala1850Ser) c.5425G>T (p.Ala1809Ser) c.5581G>T (p.Ala1861Ser) | |
12 | g.51807035C>A | CA384887409 | SCN8A | c.5549C>A (p.Ala1850Asp) c.5426C>A (p.Ala1809Asp) c.5582C>A (p.Ala1861Asp) | |
12 | g.51807035C= | CA2036194286 | SCN8A | c.5549C= (p.Ala1850=) c.5426C= (p.Ala1809=) c.5582C= (p.Ala1861=) | |
12 | g.51807035C>G | CA384887417 | SCN8A | c.5549C>G (p.Ala1850Gly) c.5426C>G (p.Ala1809Gly) c.5582C>G (p.Ala1861Gly) | |
12 | g.51807035C>T | CA384887413 | SCN8A | c.5549C>T (p.Ala1850Val) c.5426C>T (p.Ala1809Val) c.5582C>T (p.Ala1861Val) | ClinVar dbSNP |
12 | g.51807036C>A | CA480061960 | SCN8A | c.5550C>A (p.Ala1850=) c.5427C>A (p.Ala1809=) c.5583C>A (p.Ala1861=) | |
12 | g.51807036C>G | CA480061959 | SCN8A | c.5550C>G (p.Ala1850=) c.5427C>G (p.Ala1809=) c.5583C>G (p.Ala1861=) | |
12 | g.51807036C>T | CA480061961 | SCN8A | c.5550C>T (p.Ala1850=) c.5427C>T (p.Ala1809=) c.5583C>T (p.Ala1861=) | |
12 | g.51807037T>A | CA384887426 | SCN8A | c.5551T>A (p.Phe1851Ile) c.5428T>A (p.Phe1810Ile) c.5584T>A (p.Phe1862Ile) | |
12 | g.51807037T>C | CA384887437 | SCN8A | c.5551T>C (p.Phe1851Leu) c.5428T>C (p.Phe1810Leu) c.5584T>C (p.Phe1862Leu) | |
12 | g.51807037T>G | CA384887431 | SCN8A | c.5551T>G (p.Phe1851Val) c.5428T>G (p.Phe1810Val) c.5584T>G (p.Phe1862Val) | COSMIC COSMIC |
12 | g.51807038T>A | CA384887441 | SCN8A | c.5552T>A (p.Phe1851Tyr) c.5429T>A (p.Phe1810Tyr) c.5585T>A (p.Phe1862Tyr) | |
12 | g.51807038T>C | CA384887448 | SCN8A | c.5552T>C (p.Phe1851Ser) c.5429T>C (p.Phe1810Ser) c.5585T>C (p.Phe1862Ser) | |
12 | g.51807038T>G | CA384887444 | SCN8A | c.5552T>G (p.Phe1851Cys) c.5429T>G (p.Phe1810Cys) c.5585T>G (p.Phe1862Cys) | |
12 | g.51807039C>A | CA384887453 | SCN8A | c.5553C>A (p.Phe1851Leu) c.5430C>A (p.Phe1810Leu) c.5586C>A (p.Phe1862Leu) | |
12 | g.51807039C>G | CA384887460 | SCN8A | c.5553C>G (p.Phe1851Leu) c.5430C>G (p.Phe1810Leu) c.5586C>G (p.Phe1862Leu) | |
12 | g.51807039C>T | CA480061966 | SCN8A | c.5553C>T (p.Phe1851=) c.5430C>T (p.Phe1810=) c.5586C>T (p.Phe1862=) | |
12 | g.51807040A>C | CA384887465 | SCN8A | c.5554A>C (p.Thr1852Pro) c.5431A>C (p.Thr1811Pro) c.5587A>C (p.Thr1863Pro) | |
12 | g.51807040A>G | CA384887468 | SCN8A | c.5554A>G (p.Thr1852Ala) c.5431A>G (p.Thr1811Ala) c.5587A>G (p.Thr1863Ala) | |
12 | g.51807040A>T | CA384887473 | SCN8A | c.5554A>T (p.Thr1852Ser) c.5431A>T (p.Thr1811Ser) c.5587A>T (p.Thr1863Ser) | |
12 | g.51807041C>A | CA384887478 | SCN8A | c.5555C>A (p.Thr1852Asn) c.5432C>A (p.Thr1811Asn) c.5588C>A (p.Thr1863Asn) | |
12 | g.51807041C= | CA2036194289 | SCN8A | c.5555C= (p.Thr1852=) c.5432C= (p.Thr1811=) c.5588C= (p.Thr1863=) | |
12 | g.51807041C>G | CA384887503 | SCN8A | c.5555C>G (p.Thr1852Ser) c.5432C>G (p.Thr1811Ser) c.5588C>G (p.Thr1863Ser) | |
12 | g.51807041C>T | CA318298 | SCN8A | c.5555C>T (p.Thr1852Ile) c.5432C>T (p.Thr1811Ile) c.5588C>T (p.Thr1863Ile) | ClinVar dbSNP |
12 | g.51807042C>A | CA480061971 | SCN8A | c.5556C>A (p.Thr1852=) c.5433C>A (p.Thr1811=) c.5589C>A (p.Thr1863=) | |
12 | g.51807042C>G | CA480061973 | SCN8A | c.5556C>G (p.Thr1852=) c.5433C>G (p.Thr1811=) c.5589C>G (p.Thr1863=) | |
12 | g.51807042C>T | CA480061974 | SCN8A | c.5556C>T (p.Thr1852=) c.5433C>T (p.Thr1811=) c.5589C>T (p.Thr1863=) | |
12 | g.51807043A= | CA2036194295 | SCN8A | c.5557A= (p.Lys1853=) c.5434A= (p.Lys1812=) c.5590A= (p.Lys1864=) | |
12 | g.51807043A>C | CA384887519 | SCN8A | c.5557A>C (p.Lys1853Gln) c.5434A>C (p.Lys1812Gln) c.5590A>C (p.Lys1864Gln) | |
12 | g.51807043A>G | CA384887524 | SCN8A | c.5557A>G (p.Lys1853Glu) c.5434A>G (p.Lys1812Glu) c.5590A>G (p.Lys1864Glu) | |
12 | g.51807043A>T | CA384887530 | SCN8A | c.5557A>T (p.Lys1853Ter) c.5434A>T (p.Lys1812Ter) c.5590A>T (p.Lys1864Ter) | dbSNP |
12 | g.51807044A= | CA2036194305 | SCN8A | c.5558A= (p.Lys1853=) c.5435A= (p.Lys1812=) c.5591A= (p.Lys1864=) | |
12 | g.51807044A>C | CA384887546 | SCN8A | c.5558A>C (p.Lys1853Thr) c.5435A>C (p.Lys1812Thr) c.5591A>C (p.Lys1864Thr) | ClinVar dbSNP |
12 | g.51807044A>G | CA384887536 | SCN8A | c.5558A>G (p.Lys1853Arg) c.5435A>G (p.Lys1812Arg) c.5591A>G (p.Lys1864Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807044A>T | CA384887537 | SCN8A | c.5558A>T (p.Lys1853Met) c.5435A>T (p.Lys1812Met) c.5591A>T (p.Lys1864Met) | |
12 | g.51807045G>A | CA6571929 | SCN8A | c.5559G>A (p.Lys1853=) c.5436G>A (p.Lys1812=) c.5592G>A (p.Lys1864=) | dbSNP ExAC gnomAD v2 |
12 | g.51807045G>C | CA384887552 | SCN8A | c.5559G>C (p.Lys1853Asn) c.5436G>C (p.Lys1812Asn) c.5592G>C (p.Lys1864Asn) | ClinVar |
12 | g.51807045G= | CA2036194320 | SCN8A | c.5559G= (p.Lys1853=) c.5436G= (p.Lys1812=) c.5592G= (p.Lys1864=) | |
12 | g.51807045G>T | CA384887555 | SCN8A | c.5559G>T (p.Lys1853Asn) c.5436G>T (p.Lys1812Asn) c.5592G>T (p.Lys1864Asn) | |
12 | g.51807046C>A | CA480061977 | SCN8A | c.5560C>A (p.Arg1854=) c.5437C>A (p.Arg1813=) c.5593C>A (p.Arg1865=) | |
12 | g.51807046C>G | CA384887560 | SCN8A | c.5560C>G (p.Arg1854Gly) c.5437C>G (p.Arg1813Gly) c.5593C>G (p.Arg1865Gly) | |
12 | g.51807046C>T | CA384887561 | SCN8A | c.5560C>T (p.Arg1854Trp) c.5437C>T (p.Arg1813Trp) c.5593C>T (p.Arg1865Trp) | COSMIC COSMIC |
12 | g.51807047G>A | CA236327685 | SCN8A | c.5561G>A (p.Arg1854Gln) c.5438G>A (p.Arg1813Gln) c.5594G>A (p.Arg1865Gln) | ClinVar dbSNP gnomAD v4 |
12 | g.51807047G>C | CA384887565 | SCN8A | c.5561G>C (p.Arg1854Pro) c.5438G>C (p.Arg1813Pro) c.5594G>C (p.Arg1865Pro) | |
12 | g.51807047G= | CA2036194326 | SCN8A | c.5561G= (p.Arg1854=) c.5438G= (p.Arg1813=) c.5594G= (p.Arg1865=) | |
12 | g.51807047G>T | CA384887566 | SCN8A | c.5561G>T (p.Arg1854Leu) c.5438G>T (p.Arg1813Leu) c.5594G>T (p.Arg1865Leu) | |
12 | g.51807048G>A | CA480061982 | SCN8A | c.5562G>A (p.Arg1854=) c.5439G>A (p.Arg1813=) c.5595G>A (p.Arg1865=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807048G>C | CA480061983 | SCN8A | c.5562G>C (p.Arg1854=) c.5439G>C (p.Arg1813=) c.5595G>C (p.Arg1865=) | |
12 | g.51807048G= | CA2036194330 | SCN8A | c.5562G= (p.Arg1854=) c.5439G= (p.Arg1813=) c.5595G= (p.Arg1865=) | |
12 | g.51807048G>T | CA480061984 | SCN8A | c.5562G>T (p.Arg1854=) c.5439G>T (p.Arg1813=) c.5595G>T (p.Arg1865=) | gnomAD v4 |
12 | g.51807049G>A | CA384887567 | SCN8A | c.5563G>A (p.Val1855Ile) c.5440G>A (p.Val1814Ile) c.5596G>A (p.Val1866Ile) | |
12 | g.51807049G>C | CA384887569 | SCN8A | c.5563G>C (p.Val1855Leu) c.5440G>C (p.Val1814Leu) c.5596G>C (p.Val1866Leu) | |
12 | g.51807049G>T | CA384887570 | SCN8A | c.5563G>T (p.Val1855Phe) c.5440G>T (p.Val1814Phe) c.5596G>T (p.Val1866Phe) | |
12 | g.51807050T>A | CA384887577 | SCN8A | c.5564T>A (p.Val1855Asp) c.5441T>A (p.Val1814Asp) c.5597T>A (p.Val1866Asp) | ClinVar dbSNP |
12 | g.51807050T>C | CA384887576 | SCN8A | c.5564T>C (p.Val1855Ala) c.5441T>C (p.Val1814Ala) c.5597T>C (p.Val1866Ala) | |
12 | g.51807050T>G | CA384887575 | SCN8A | c.5564T>G (p.Val1855Gly) c.5441T>G (p.Val1814Gly) c.5597T>G (p.Val1866Gly) | |
12 | g.51807051C>A | CA480061989 | SCN8A | c.5565C>A (p.Val1855=) c.5442C>A (p.Val1814=) c.5598C>A (p.Val1866=) | |
12 | g.51807051C= | CA2036194335 | SCN8A | c.5565C= (p.Val1855=) c.5442C= (p.Val1814=) c.5598C= (p.Val1866=) | |
12 | g.51807051C>G | CA480061988 | SCN8A | c.5565C>G (p.Val1855=) c.5442C>G (p.Val1814=) c.5598C>G (p.Val1866=) | gnomAD v4 |
12 | g.51807051C>T | CA480061986 | SCN8A | c.5565C>T (p.Val1855=) c.5442C>T (p.Val1814=) c.5598C>T (p.Val1866=) | dbSNP |
12 | g.51807052C>A | CA384887582 | SCN8A | c.5566C>A (p.Leu1856Met) c.5443C>A (p.Leu1815Met) c.5599C>A (p.Leu1867Met) | |
12 | g.51807052C>G | CA384887578 | SCN8A | c.5566C>G (p.Leu1856Val) c.5443C>G (p.Leu1815Val) c.5599C>G (p.Leu1867Val) | ClinVar |
12 | g.51807052C>T | CA480061990 | SCN8A | c.5566C>T (p.Leu1856=) c.5443C>T (p.Leu1815=) c.5599C>T (p.Leu1867=) | gnomAD v4 |
12 | g.51807053T>A | CA384887588 | SCN8A | c.5567T>A (p.Leu1856Gln) c.5444T>A (p.Leu1815Gln) c.5600T>A (p.Leu1867Gln) | |
12 | g.51807053T>C | CA384887594 | SCN8A | c.5567T>C (p.Leu1856Pro) c.5444T>C (p.Leu1815Pro) c.5600T>C (p.Leu1867Pro) | |
12 | g.51807053T>G | CA384887597 | SCN8A | c.5567T>G (p.Leu1856Arg) c.5444T>G (p.Leu1815Arg) c.5600T>G (p.Leu1867Arg) | |
12 | g.51807054G>A | CA480061991 | SCN8A | c.5568G>A (p.Leu1856=) c.5445G>A (p.Leu1815=) c.5601G>A (p.Leu1867=) | |
12 | g.51807054G>C | CA480061992 | SCN8A | c.5568G>C (p.Leu1856=) c.5445G>C (p.Leu1815=) c.5601G>C (p.Leu1867=) | |
12 | g.51807054G>T | CA480061993 | SCN8A | c.5568G>T (p.Leu1856=) c.5445G>T (p.Leu1815=) c.5601G>T (p.Leu1867=) | gnomAD v4 |
12 | g.51807056del | CA2580086587 | SCN8A | c.5570del (p.Gly1857GlufsTer?) c.5447del (p.Gly1816GlufsTer?) c.5603del (p.Gly1868GlufsTer?) | ClinVar |
12 | g.51807055G>A | CA384887601 | SCN8A | c.5569G>A (p.Gly1857Arg) c.5446G>A (p.Gly1816Arg) c.5602G>A (p.Gly1868Arg) | COSMIC COSMIC |
12 | g.51807055G>C | CA384887602 | SCN8A | c.5569G>C (p.Gly1857Arg) c.5446G>C (p.Gly1816Arg) c.5602G>C (p.Gly1868Arg) | |
12 | g.51807055G= | CA2036194339 | SCN8A | c.5569G= (p.Gly1857=) c.5446G= (p.Gly1816=) c.5602G= (p.Gly1868=) | |
12 | g.51807055G>T | CA384887603 | SCN8A | c.5569G>T (p.Gly1857Ter) c.5446G>T (p.Gly1816Ter) c.5602G>T (p.Gly1868Ter) | dbSNP |
12 | g.51807056G>A | CA384887605 | SCN8A | c.5570G>A (p.Gly1857Glu) c.5447G>A (p.Gly1816Glu) c.5603G>A (p.Gly1868Glu) | |
12 | g.51807056G>C | CA384887606 | SCN8A | c.5570G>C (p.Gly1857Ala) c.5447G>C (p.Gly1816Ala) c.5603G>C (p.Gly1868Ala) | |
12 | g.51807056G>T | CA384887608 | SCN8A | c.5570G>T (p.Gly1857Val) c.5447G>T (p.Gly1816Val) c.5603G>T (p.Gly1868Val) | |
12 | g.51807057A>C | CA480061998 | SCN8A | c.5571A>C (p.Gly1857=) c.5448A>C (p.Gly1816=) c.5604A>C (p.Gly1868=) | |
12 | g.51807057A>G | CA480061999 | SCN8A | c.5571A>G (p.Gly1857=) c.5448A>G (p.Gly1816=) c.5604A>G (p.Gly1868=) | |
12 | g.51807057A>T | CA480062000 | SCN8A | c.5571A>T (p.Gly1857=) c.5448A>T (p.Gly1816=) c.5604A>T (p.Gly1868=) | |
12 | g.51807058G>A | CA384887615 | SCN8A | c.5572G>A (p.Asp1858Asn) c.5449G>A (p.Asp1817Asn) c.5605G>A (p.Asp1869Asn) | COSMIC COSMIC |
12 | g.51807058G>C | CA384887618 | SCN8A | c.5572G>C (p.Asp1858His) c.5449G>C (p.Asp1817His) c.5605G>C (p.Asp1869His) | gnomAD v4 |
12 | g.51807058G>T | CA384887623 | SCN8A | c.5572G>T (p.Asp1858Tyr) c.5449G>T (p.Asp1817Tyr) c.5605G>T (p.Asp1869Tyr) | |
12 | g.51807059A>C | CA384887631 | SCN8A | c.5573A>C (p.Asp1858Ala) c.5450A>C (p.Asp1817Ala) c.5606A>C (p.Asp1869Ala) | |
12 | g.51807059A>G | CA384887639 | SCN8A | c.5573A>G (p.Asp1858Gly) c.5450A>G (p.Asp1817Gly) c.5606A>G (p.Asp1869Gly) | |
12 | g.51807059A>T | CA384887634 | SCN8A | c.5573A>T (p.Asp1858Val) c.5450A>T (p.Asp1817Val) c.5606A>T (p.Asp1869Val) | |
12 | g.51807060T>A | CA384887647 | SCN8A | c.5574T>A (p.Asp1858Glu) c.5451T>A (p.Asp1817Glu) c.5607T>A (p.Asp1869Glu) | |
12 | g.51807060T>C | CA480062004 | SCN8A | c.5574T>C (p.Asp1858=) c.5451T>C (p.Asp1817=) c.5607T>C (p.Asp1869=) | gnomAD v4 |
12 | g.51807060T>G | CA384887675 | SCN8A | c.5574T>G (p.Asp1858Glu) c.5451T>G (p.Asp1817Glu) c.5607T>G (p.Asp1869Glu) | |
12 | g.51807061A= | CA2036194346 | SCN8A | c.5575A= (p.Ser1859=) c.5452A= (p.Ser1818=) c.5608A= (p.Ser1870=) | |
12 | g.51807061A>C | CA384887683 | SCN8A | c.5575A>C (p.Ser1859Arg) c.5452A>C (p.Ser1818Arg) c.5608A>C (p.Ser1870Arg) | |
12 | g.51807061A>G | CA384887687 | SCN8A | c.5575A>G (p.Ser1859Gly) c.5452A>G (p.Ser1818Gly) c.5608A>G (p.Ser1870Gly) | ClinVar dbSNP |
12 | g.51807061A>T | CA384887697 | SCN8A | c.5575A>T (p.Ser1859Cys) c.5452A>T (p.Ser1818Cys) c.5608A>T (p.Ser1870Cys) | |
12 | g.51807062G>A | CA384887701 | SCN8A | c.5576G>A (p.Ser1859Asn) c.5453G>A (p.Ser1818Asn) c.5609G>A (p.Ser1870Asn) | |
12 | g.51807062G>C | CA384887705 | SCN8A | c.5576G>C (p.Ser1859Thr) c.5453G>C (p.Ser1818Thr) c.5609G>C (p.Ser1870Thr) | gnomAD v4 |
12 | g.51807062G>T | CA384887709 | SCN8A | c.5576G>T (p.Ser1859Ile) c.5453G>T (p.Ser1818Ile) c.5609G>T (p.Ser1870Ile) | |
12 | g.51807063C>A | CA384887714 | SCN8A | c.5577C>A (p.Ser1859Arg) c.5454C>A (p.Ser1818Arg) c.5610C>A (p.Ser1870Arg) | |
12 | g.51807063C= | CA2036194355 | SCN8A | c.5577C= (p.Ser1859=) c.5454C= (p.Ser1818=) c.5610C= (p.Ser1870=) | |
12 | g.51807063C>G | CA384887719 | SCN8A | c.5577C>G (p.Ser1859Arg) c.5454C>G (p.Ser1818Arg) c.5610C>G (p.Ser1870Arg) | |
12 | g.51807063C>T | CA6571930 | SCN8A | c.5577C>T (p.Ser1859=) c.5454C>T (p.Ser1818=) c.5610C>T (p.Ser1870=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807064G>A | CA384887740 | SCN8A | c.5578G>A (p.Gly1860Arg) c.5455G>A (p.Gly1819Arg) c.5611G>A (p.Gly1871Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807064G>C | CA384887741 | SCN8A | c.5578G>C (p.Gly1860Arg) c.5455G>C (p.Gly1819Arg) c.5611G>C (p.Gly1871Arg) | |
12 | g.51807064G= | CA2036194364 | SCN8A | c.5578G= (p.Gly1860=) c.5455G= (p.Gly1819=) c.5611G= (p.Gly1871=) | |
12 | g.51807064G>T | CA384887733 | SCN8A | c.5578G>T (p.Gly1860Trp) c.5455G>T (p.Gly1819Trp) c.5611G>T (p.Gly1871Trp) | |
12 | g.51807065G>A | CA384887747 | SCN8A | c.5579G>A (p.Gly1860Glu) c.5456G>A (p.Gly1819Glu) c.5612G>A (p.Gly1871Glu) | |
12 | g.51807065G>C | CA384887754 | SCN8A | c.5579G>C (p.Gly1860Ala) c.5456G>C (p.Gly1819Ala) c.5612G>C (p.Gly1871Ala) | |
12 | g.51807065G>T | CA384887750 | SCN8A | c.5579G>T (p.Gly1860Val) c.5456G>T (p.Gly1819Val) c.5612G>T (p.Gly1871Val) | |
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.51807066G>A | CA6571931 | SCN8A | c.5580G>A (p.Gly1860=) c.5457G>A (p.Gly1819=) c.5613G>A (p.Gly1871=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807066G>C | CA480062007 | SCN8A | c.5580G>C (p.Gly1860=) c.5457G>C (p.Gly1819=) c.5613G>C (p.Gly1871=) | |
12 | g.51807066G= | CA2036194374 | SCN8A | c.5580G= (p.Gly1860=) c.5457G= (p.Gly1819=) c.5613G= (p.Gly1871=) | |
12 | g.51807066G>T | CA480062008 | SCN8A | c.5580G>T (p.Gly1860=) c.5457G>T (p.Gly1819=) c.5613G>T (p.Gly1871=) | |
12 | g.51807067G>A | CA384887757 | SCN8A | c.5581G>A (p.Glu1861Lys) c.5458G>A (p.Glu1820Lys) c.5614G>A (p.Glu1872Lys) | |
12 | g.51807067G>C | CA384887759 | SCN8A | c.5581G>C (p.Glu1861Gln) c.5458G>C (p.Glu1820Gln) c.5614G>C (p.Glu1872Gln) | |
12 | g.51807067G= | CA2036194377 | SCN8A | c.5581G= (p.Glu1861=) c.5458G= (p.Glu1820=) c.5614G= (p.Glu1872=) | |
12 | g.51807067G>T | CA384887764 | SCN8A | c.5581G>T (p.Glu1861Ter) c.5458G>T (p.Glu1820Ter) c.5614G>T (p.Glu1872Ter) | dbSNP |
12 | g.51807068A>C | CA384887767 | SCN8A | c.5582A>C (p.Glu1861Ala) c.5459A>C (p.Glu1820Ala) c.5615A>C (p.Glu1872Ala) | |
12 | g.51807068A>G | CA384887768 | SCN8A | c.5582A>G (p.Glu1861Gly) c.5459A>G (p.Glu1820Gly) c.5615A>G (p.Glu1872Gly) | ClinVar dbSNP |
12 | g.51807068A>T | CA384887769 | SCN8A | c.5582A>T (p.Glu1861Val) c.5459A>T (p.Glu1820Val) c.5615A>T (p.Glu1872Val) | |
12 | g.51807069G>A | CA480062013 | SCN8A | c.5583G>A (p.Glu1861=) c.5460G>A (p.Glu1820=) c.5616G>A (p.Glu1872=) | gnomAD v4 |
12 | g.51807069G>C | CA384887770 | SCN8A | c.5583G>C (p.Glu1861Asp) c.5460G>C (p.Glu1820Asp) c.5616G>C (p.Glu1872Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807069G= | CA2036194381 | SCN8A | c.5583G= (p.Glu1861=) c.5460G= (p.Glu1820=) c.5616G= (p.Glu1872=) | |
12 | g.51807069G>T | CA384887771 | SCN8A | c.5583G>T (p.Glu1861Asp) c.5460G>T (p.Glu1820Asp) c.5616G>T (p.Glu1872Asp) | |
12 | g.51807070T>A | CA384887773 | SCN8A | c.5584T>A (p.Leu1862Met) c.5461T>A (p.Leu1821Met) c.5617T>A (p.Leu1873Met) | |
12 | g.51807070T>C | CA480062014 | SCN8A | c.5584T>C (p.Leu1862=) c.5461T>C (p.Leu1821=) c.5617T>C (p.Leu1873=) | gnomAD v4 |
12 | g.51807070T>G | CA384887775 | SCN8A | c.5584T>G (p.Leu1862Val) c.5461T>G (p.Leu1821Val) c.5617T>G (p.Leu1873Val) | ClinVar |
12 | g.51807071T>A | CA384887796 | SCN8A | c.5585T>A (p.Leu1862Ter) c.5462T>A (p.Leu1821Ter) c.5618T>A (p.Leu1873Ter) | |
12 | g.51807071T>C | CA384887780 | SCN8A | c.5585T>C (p.Leu1862Ser) c.5462T>C (p.Leu1821Ser) c.5618T>C (p.Leu1873Ser) | |
12 | g.51807071T>G | CA384887793 | SCN8A | c.5585T>G (p.Leu1862Trp) c.5462T>G (p.Leu1821Trp) c.5618T>G (p.Leu1873Trp) | |
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=) |