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