Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.51807173A= | CA2036194786 | SCN8A | c.5687A= (p.Glu1896=) c.5564A= (p.Glu1855=) c.5720A= (p.Glu1907=) | |
12 | g.51807173A>C | CA384888558 | SCN8A | c.5687A>C (p.Glu1896Ala) c.5564A>C (p.Glu1855Ala) c.5720A>C (p.Glu1907Ala) | |
12 | g.51807173A>G | CA6571940 | SCN8A | c.5687A>G (p.Glu1896Gly) c.5564A>G (p.Glu1855Gly) c.5720A>G (p.Glu1907Gly) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.51807173A>T | CA384888562 | SCN8A | c.5687A>T (p.Glu1896Val) c.5564A>T (p.Glu1855Val) c.5720A>T (p.Glu1907Val) | |
12 | g.51807174G>A | CA480062236 | SCN8A | c.5688G>A (p.Glu1896=) c.5565G>A (p.Glu1855=) c.5721G>A (p.Glu1907=) | |
12 | g.51807174G>C | CA384888565 | SCN8A | c.5688G>C (p.Glu1896Asp) c.5565G>C (p.Glu1855Asp) c.5721G>C (p.Glu1907Asp) | |
12 | g.51807174G>T | CA384888576 | SCN8A | c.5688G>T (p.Glu1896Asp) c.5565G>T (p.Glu1855Asp) c.5721G>T (p.Glu1907Asp) | |
12 | g.51807175G>A | CA384888580 | SCN8A | c.5689G>A (p.Val1897Ile) c.5566G>A (p.Val1856Ile) c.5722G>A (p.Val1908Ile) | |
12 | g.51807175G>C | CA384888584 | SCN8A | c.5689G>C (p.Val1897Leu) c.5566G>C (p.Val1856Leu) c.5722G>C (p.Val1908Leu) | |
12 | g.51807175G>T | CA384888597 | SCN8A | c.5689G>T (p.Val1897Leu) c.5566G>T (p.Val1856Leu) c.5722G>T (p.Val1908Leu) | |
12 | g.51807176T>A | CA384888602 | SCN8A | c.5690T>A (p.Val1897Glu) c.5567T>A (p.Val1856Glu) c.5723T>A (p.Val1908Glu) | |
12 | g.51807176T>C | CA384888605 | SCN8A | c.5690T>C (p.Val1897Ala) c.5567T>C (p.Val1856Ala) c.5723T>C (p.Val1908Ala) | |
12 | g.51807176T>G | CA384888607 | SCN8A | c.5690T>G (p.Val1897Gly) c.5567T>G (p.Val1856Gly) c.5723T>G (p.Val1908Gly) | |
12 | g.51807177A>C | CA480062239 | SCN8A | c.5691A>C (p.Val1897=) c.5568A>C (p.Val1856=) c.5724A>C (p.Val1908=) | |
12 | g.51807177A>G | CA480062241 | SCN8A | c.5691A>G (p.Val1897=) c.5568A>G (p.Val1856=) c.5724A>G (p.Val1908=) | gnomAD v4 |
12 | g.51807177A>T | CA480062243 | SCN8A | c.5691A>T (p.Val1897=) c.5568A>T (p.Val1856=) c.5724A>T (p.Val1908=) | |
12 | g.51807178T>A | CA384888617 | SCN8A | c.5692T>A (p.Ser1898Thr) c.5569T>A (p.Ser1857Thr) c.5725T>A (p.Ser1909Thr) | |
12 | g.51807178T>C | CA384888615 | SCN8A | c.5692T>C (p.Ser1898Pro) c.5569T>C (p.Ser1857Pro) c.5725T>C (p.Ser1909Pro) | gnomAD v4 |
12 | g.51807178T>G | CA384888612 | SCN8A | c.5692T>G (p.Ser1898Ala) c.5569T>G (p.Ser1857Ala) c.5725T>G (p.Ser1909Ala) | gnomAD v4 |
12 | g.51807179C>A | CA384888621 | SCN8A | c.5693C>A (p.Ser1898Tyr) c.5570C>A (p.Ser1857Tyr) c.5726C>A (p.Ser1909Tyr) | |
12 | g.51807179C>G | CA384888624 | SCN8A | c.5693C>G (p.Ser1898Cys) c.5570C>G (p.Ser1857Cys) c.5726C>G (p.Ser1909Cys) | |
12 | g.51807179C>T | CA384888636 | SCN8A | c.5693C>T (p.Ser1898Phe) c.5570C>T (p.Ser1857Phe) c.5726C>T (p.Ser1909Phe) | |
12 | g.51807180T>A | CA480062246 | SCN8A | c.5694T>A (p.Ser1898=) c.5571T>A (p.Ser1857=) c.5727T>A (p.Ser1909=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807180T>C | CA480062245 | SCN8A | c.5694T>C (p.Ser1898=) c.5571T>C (p.Ser1857=) c.5727T>C (p.Ser1909=) | |
12 | g.51807180T>G | CA480062244 | SCN8A | c.5694T>G (p.Ser1898=) c.5571T>G (p.Ser1857=) c.5727T>G (p.Ser1909=) | gnomAD v4 |
12 | g.51807180T= | CA2036194791 | SCN8A | c.5694T= (p.Ser1898=) c.5571T= (p.Ser1857=) c.5727T= (p.Ser1909=) | |
12 | g.51807181G>A | CA384888642 | SCN8A | c.5695G>A (p.Ala1899Thr) c.5572G>A (p.Ala1858Thr) c.5728G>A (p.Ala1910Thr) | |
12 | g.51807181G>C | CA384888644 | SCN8A | c.5695G>C (p.Ala1899Pro) c.5572G>C (p.Ala1858Pro) c.5728G>C (p.Ala1910Pro) | |
12 | g.51807181G>T | CA384888647 | SCN8A | c.5695G>T (p.Ala1899Ser) c.5572G>T (p.Ala1858Ser) c.5728G>T (p.Ala1910Ser) | |
12 | g.51807182C>A | CA384888650 | SCN8A | c.5696C>A (p.Ala1899Glu) c.5573C>A (p.Ala1858Glu) c.5729C>A (p.Ala1910Glu) | |
12 | g.51807182C= | CA2036194797 | SCN8A | c.5696C= (p.Ala1899=) c.5573C= (p.Ala1858=) c.5729C= (p.Ala1910=) | |
12 | g.51807182C>G | CA384888652 | SCN8A | c.5696C>G (p.Ala1899Gly) c.5573C>G (p.Ala1858Gly) c.5729C>G (p.Ala1910Gly) | |
12 | g.51807182C>T | CA384888656 | SCN8A | c.5696C>T (p.Ala1899Val) c.5573C>T (p.Ala1858Val) c.5729C>T (p.Ala1910Val) | ClinVar dbSNP |
12 | g.51807183A>C | CA480062249 | SCN8A | c.5697A>C (p.Ala1899=) c.5574A>C (p.Ala1858=) c.5730A>C (p.Ala1910=) | |
12 | g.51807183A>G | CA480062250 | SCN8A | c.5697A>G (p.Ala1899=) c.5574A>G (p.Ala1858=) c.5730A>G (p.Ala1910=) | gnomAD v4 |
12 | g.51807183A>T | CA480062252 | SCN8A | c.5697A>T (p.Ala1899=) c.5574A>T (p.Ala1858=) c.5730A>T (p.Ala1910=) | |
12 | g.51807184G>A | CA384888660 | SCN8A | c.5698G>A (p.Val1900Met) c.5575G>A (p.Val1859Met) c.5731G>A (p.Val1911Met) | gnomAD v4 |
12 | g.51807184G>C | CA384888663 | SCN8A | c.5698G>C (p.Val1900Leu) c.5575G>C (p.Val1859Leu) c.5731G>C (p.Val1911Leu) | |
12 | g.51807184G>T | CA384888665 | SCN8A | c.5698G>T (p.Val1900Leu) c.5575G>T (p.Val1859Leu) c.5731G>T (p.Val1911Leu) | COSMIC COSMIC |
12 | g.51807185T>A | CA384888677 | SCN8A | c.5699T>A (p.Val1900Glu) c.5576T>A (p.Val1859Glu) c.5732T>A (p.Val1911Glu) | |
12 | g.51807185T>C | CA16619567 | SCN8A | c.5699T>C (p.Val1900Ala) c.5576T>C (p.Val1859Ala) c.5732T>C (p.Val1911Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807185T>G | CA384888670 | SCN8A | c.5699T>G (p.Val1900Gly) c.5576T>G (p.Val1859Gly) c.5732T>G (p.Val1911Gly) | dbSNP |
12 | g.51807185T= | CA2036194804 | SCN8A | c.5699T= (p.Val1900=) c.5576T= (p.Val1859=) c.5732T= (p.Val1911=) | |
12 | g.51807186G>A | CA480062253 | SCN8A | c.5700G>A (p.Val1900=) c.5577G>A (p.Val1859=) c.5733G>A (p.Val1911=) | |
12 | g.51807186G>C | CA480062257 | SCN8A | c.5700G>C (p.Val1900=) c.5577G>C (p.Val1859=) c.5733G>C (p.Val1911=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807186G= | CA2036194807 | SCN8A | c.5700G= (p.Val1900=) c.5577G= (p.Val1859=) c.5733G= (p.Val1911=) | |
12 | g.51807186G>T | CA480062254 | SCN8A | c.5700G>T (p.Val1900=) c.5577G>T (p.Val1859=) c.5733G>T (p.Val1911=) | |
12 | g.51807187_51807197dup | CA2618842275 | SCN8A | c.5701_5711dup (p.Ala1905SerfsTer?) c.5578_5588dup (p.Ala1864SerfsTer?) c.5734_5744dup (p.Ala1916SerfsTer?) | gnomAD v4 |
12 | g.51807187G>A | CA384888681 | SCN8A | c.5701G>A (p.Val1901Ile) c.5578G>A (p.Val1860Ile) c.5734G>A (p.Val1912Ile) | COSMIC COSMIC |
12 | g.51807187G>C | CA384888690 | SCN8A | c.5701G>C (p.Val1901Leu) c.5578G>C (p.Val1860Leu) c.5734G>C (p.Val1912Leu) | |
12 | g.51807187G>T | CA384888693 | SCN8A | c.5701G>T (p.Val1901Phe) c.5578G>T (p.Val1860Phe) c.5734G>T (p.Val1912Phe) | |
12 | g.51807188T>A | CA384888696 | SCN8A | c.5702T>A (p.Val1901Asp) c.5579T>A (p.Val1860Asp) c.5735T>A (p.Val1912Asp) | |
12 | g.51807188T>C | CA384888700 | SCN8A | c.5702T>C (p.Val1901Ala) c.5579T>C (p.Val1860Ala) c.5735T>C (p.Val1912Ala) | |
12 | g.51807188T>G | CA384888703 | SCN8A | c.5702T>G (p.Val1901Gly) c.5579T>G (p.Val1860Gly) c.5735T>G (p.Val1912Gly) | |
12 | g.51807189C>A | CA480062264 | SCN8A | c.5703C>A (p.Val1901=) c.5580C>A (p.Val1860=) c.5736C>A (p.Val1912=) | |
12 | g.51807189C>G | CA480062265 | SCN8A | c.5703C>G (p.Val1901=) c.5580C>G (p.Val1860=) c.5736C>G (p.Val1912=) | |
12 | g.51807189C>T | CA480062266 | SCN8A | c.5703C>T (p.Val1901=) c.5580C>T (p.Val1860=) c.5736C>T (p.Val1912=) | |
12 | g.51807190C>A | CA384888711 | SCN8A | c.5704C>A (p.Leu1902Met) c.5581C>A (p.Leu1861Met) c.5737C>A (p.Leu1913Met) | |
12 | g.51807190C>G | CA384888708 | SCN8A | c.5704C>G (p.Leu1902Val) c.5581C>G (p.Leu1861Val) c.5737C>G (p.Leu1913Val) | |
12 | g.51807190C>T | CA480062268 | SCN8A | c.5704C>T (p.Leu1902=) c.5581C>T (p.Leu1861=) c.5737C>T (p.Leu1913=) | |
12 | g.51807191T>A | CA384888714 | SCN8A | c.5705T>A (p.Leu1902Gln) c.5582T>A (p.Leu1861Gln) c.5738T>A (p.Leu1913Gln) | |
12 | g.51807191T>C | CA384888718 | SCN8A | c.5705T>C (p.Leu1902Pro) c.5582T>C (p.Leu1861Pro) c.5738T>C (p.Leu1913Pro) | |
12 | g.51807191T>G | CA384888724 | SCN8A | c.5705T>G (p.Leu1902Arg) c.5582T>G (p.Leu1861Arg) c.5738T>G (p.Leu1913Arg) | |
12 | g.51807192G>A | CA480062272 | SCN8A | c.5706G>A (p.Leu1902=) c.5583G>A (p.Leu1861=) c.5739G>A (p.Leu1913=) | |
12 | g.51807192G>C | CA480062273 | SCN8A | c.5706G>C (p.Leu1902=) c.5583G>C (p.Leu1861=) c.5739G>C (p.Leu1913=) | |
12 | g.51807192G>T | CA480062274 | SCN8A | c.5706G>T (p.Leu1902=) c.5583G>T (p.Leu1861=) c.5739G>T (p.Leu1913=) | |
12 | g.51807193C>A | CA384888727 | SCN8A | c.5707C>A (p.Gln1903Lys) c.5584C>A (p.Gln1862Lys) c.5740C>A (p.Gln1914Lys) | |
12 | g.51807193C>G | CA384888730 | SCN8A | c.5707C>G (p.Gln1903Glu) c.5584C>G (p.Gln1862Glu) c.5740C>G (p.Gln1914Glu) | |
12 | g.51807193C>T | CA384888732 | SCN8A | c.5707C>T (p.Gln1903Ter) c.5584C>T (p.Gln1862Ter) c.5740C>T (p.Gln1914Ter) | |
12 | g.51807194A>C | CA384888736 | SCN8A | c.5708A>C (p.Gln1903Pro) c.5585A>C (p.Gln1862Pro) c.5741A>C (p.Gln1914Pro) | |
12 | g.51807194A>G | CA384888743 | SCN8A | c.5708A>G (p.Gln1903Arg) c.5585A>G (p.Gln1862Arg) c.5741A>G (p.Gln1914Arg) | |
12 | g.51807194A>T | CA384888740 | SCN8A | c.5708A>T (p.Gln1903Leu) c.5585A>T (p.Gln1862Leu) c.5741A>T (p.Gln1914Leu) | |
12 | g.51807195G>A | CA480062275 | SCN8A | c.5709G>A (p.Gln1903=) c.5586G>A (p.Gln1862=) c.5742G>A (p.Gln1914=) | |
12 | g.51807195G>C | CA384888745 | SCN8A | c.5709G>C (p.Gln1903His) c.5586G>C (p.Gln1862His) c.5742G>C (p.Gln1914His) | |
12 | g.51807195G>T | CA384888746 | SCN8A | c.5709G>T (p.Gln1903His) c.5586G>T (p.Gln1862His) c.5742G>T (p.Gln1914His) | |
12 | g.51807196C>A | CA384888747 | SCN8A | c.5710C>A (p.Arg1904Ser) c.5587C>A (p.Arg1863Ser) c.5743C>A (p.Arg1915Ser) | |
12 | g.51807196C= | CA2036194812 | SCN8A | c.5710C= (p.Arg1904=) c.5587C= (p.Arg1863=) c.5743C= (p.Arg1915=) | |
12 | g.51807196C>G | CA384888748 | SCN8A | c.5710C>G (p.Arg1904Gly) c.5587C>G (p.Arg1863Gly) c.5743C>G (p.Arg1915Gly) | |
12 | g.51807196C>T | CA6571941 | SCN8A | c.5710C>T (p.Arg1904Cys) c.5587C>T (p.Arg1863Cys) c.5743C>T (p.Arg1915Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807197G>A | CA6571942 | SCN8A | c.5711G>A (p.Arg1904His) c.5588G>A (p.Arg1863His) c.5744G>A (p.Arg1915His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.51807197G>C | CA384888760 | SCN8A | c.5711G>C (p.Arg1904Pro) c.5588G>C (p.Arg1863Pro) c.5744G>C (p.Arg1915Pro) | |
12 | g.51807197G= | CA2036194827 | SCN8A | c.5711G= (p.Arg1904=) c.5588G= (p.Arg1863=) c.5744G= (p.Arg1915=) | |
12 | g.51807197G>T | CA384888763 | SCN8A | c.5711G>T (p.Arg1904Leu) c.5588G>T (p.Arg1863Leu) c.5744G>T (p.Arg1915Leu) | |
12 | g.51807198T>A | CA480062280 | SCN8A | c.5712T>A (p.Arg1904=) c.5589T>A (p.Arg1863=) c.5745T>A (p.Arg1915=) | |
12 | g.51807198T>C | CA480062281 | SCN8A | c.5712T>C (p.Arg1904=) c.5589T>C (p.Arg1863=) c.5745T>C (p.Arg1915=) | |
12 | g.51807198T>G | CA480062282 | SCN8A | c.5712T>G (p.Arg1904=) c.5589T>G (p.Arg1863=) c.5745T>G (p.Arg1915=) | |
12 | g.51807199G>A | CA384888767 | SCN8A | c.5713G>A (p.Ala1905Thr) c.5590G>A (p.Ala1864Thr) c.5746G>A (p.Ala1916Thr) | ClinVar |
12 | g.51807199G>C | CA384888771 | SCN8A | c.5713G>C (p.Ala1905Pro) c.5590G>C (p.Ala1864Pro) c.5746G>C (p.Ala1916Pro) | |
12 | g.51807199G= | CA2036194830 | SCN8A | c.5713G= (p.Ala1905=) c.5590G= (p.Ala1864=) c.5746G= (p.Ala1916=) | |
12 | g.51807199G>T | CA384888784 | SCN8A | c.5713G>T (p.Ala1905Ser) c.5590G>T (p.Ala1864Ser) c.5746G>T (p.Ala1916Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807200C>A | CA384888807 | SCN8A | c.5714C>A (p.Ala1905Asp) c.5591C>A (p.Ala1864Asp) c.5747C>A (p.Ala1916Asp) | |
12 | g.51807200C>G | CA384888806 | SCN8A | c.5714C>G (p.Ala1905Gly) c.5591C>G (p.Ala1864Gly) c.5747C>G (p.Ala1916Gly) | gnomAD v4 |
12 | g.51807200C>T | CA384888798 | SCN8A | c.5714C>T (p.Ala1905Val) c.5591C>T (p.Ala1864Val) c.5747C>T (p.Ala1916Val) | |
12 | g.51807201C>A | CA480062283 | SCN8A | c.5715C>A (p.Ala1905=) c.5592C>A (p.Ala1864=) c.5748C>A (p.Ala1916=) | |
12 | g.51807201C>G | CA480062285 | SCN8A | c.5715C>G (p.Ala1905=) c.5592C>G (p.Ala1864=) c.5748C>G (p.Ala1916=) | |
12 | g.51807201C>T | CA480062286 | SCN8A | c.5715C>T (p.Ala1905=) c.5592C>T (p.Ala1864=) c.5748C>T (p.Ala1916=) | |
12 | g.51807202T>A | CA384888813 | SCN8A | c.5716T>A (p.Tyr1906Asn) c.5593T>A (p.Tyr1865Asn) c.5749T>A (p.Tyr1917Asn) | |
12 | g.51807202T>C | CA384888816 | SCN8A | c.5716T>C (p.Tyr1906His) c.5593T>C (p.Tyr1865His) c.5749T>C (p.Tyr1917His) | |
12 | g.51807202T>G | CA384888820 | SCN8A | c.5716T>G (p.Tyr1906Asp) c.5593T>G (p.Tyr1865Asp) c.5749T>G (p.Tyr1917Asp) | |
12 | g.51807203A>C | CA384888823 | SCN8A | c.5717A>C (p.Tyr1906Ser) c.5594A>C (p.Tyr1865Ser) c.5750A>C (p.Tyr1917Ser) | |
12 | g.51807203A>G | CA384888826 | SCN8A | c.5717A>G (p.Tyr1906Cys) c.5594A>G (p.Tyr1865Cys) c.5750A>G (p.Tyr1917Cys) | |
12 | g.51807203A>T | CA384888829 | SCN8A | c.5717A>T (p.Tyr1906Phe) c.5594A>T (p.Tyr1865Phe) c.5750A>T (p.Tyr1917Phe) | |
12 | g.51807204C>A | CA384888842 | SCN8A | c.5718C>A (p.Tyr1906Ter) c.5595C>A (p.Tyr1865Ter) c.5751C>A (p.Tyr1917Ter) | |
12 | g.51807204C= | CA2036194833 | SCN8A | c.5718C= (p.Tyr1906=) c.5595C= (p.Tyr1865=) c.5751C= (p.Tyr1917=) | |
12 | g.51807204C>G | CA384888835 | SCN8A | c.5718C>G (p.Tyr1906Ter) c.5595C>G (p.Tyr1865Ter) c.5751C>G (p.Tyr1917Ter) | |
12 | g.51807204C>T | CA236327797 | SCN8A | c.5718C>T (p.Tyr1906=) c.5595C>T (p.Tyr1865=) c.5751C>T (p.Tyr1917=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807205C>A | CA480062294 | SCN8A | c.5719C>A (p.Arg1907=) c.5596C>A (p.Arg1866=) c.5752C>A (p.Arg1918=) | gnomAD v4 |
12 | g.51807205C= | CA2036194834 | SCN8A | c.5719C= (p.Arg1907=) c.5596C= (p.Arg1866=) c.5752C= (p.Arg1918=) | |
12 | g.51807205C>G | CA384888859 | SCN8A | c.5719C>G (p.Arg1907Gly) c.5596C>G (p.Arg1866Gly) c.5752C>G (p.Arg1918Gly) | gnomAD v4 |
12 | g.51807205C>T | CA6571943 | SCN8A | c.5719C>T (p.Arg1907Trp) c.5596C>T (p.Arg1866Trp) c.5752C>T (p.Arg1918Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807206G>A | CA384888867 | SCN8A | c.5720G>A (p.Arg1907Gln) c.5597G>A (p.Arg1866Gln) c.5753G>A (p.Arg1918Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807206G>C | CA384888885 | SCN8A | c.5720G>C (p.Arg1907Pro) c.5597G>C (p.Arg1866Pro) c.5753G>C (p.Arg1918Pro) | |
12 | g.51807206G= | CA2036194838 | SCN8A | c.5720G= (p.Arg1907=) c.5597G= (p.Arg1866=) c.5753G= (p.Arg1918=) | |
12 | g.51807206G>T | CA384888887 | SCN8A | c.5720G>T (p.Arg1907Leu) c.5597G>T (p.Arg1866Leu) c.5753G>T (p.Arg1918Leu) | |
12 | g.51807207G>A | CA6571944 | SCN8A | c.5721G>A (p.Arg1907=) c.5598G>A (p.Arg1866=) c.5754G>A (p.Arg1918=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807207G>C | CA480062297 | SCN8A | c.5721G>C (p.Arg1907=) c.5598G>C (p.Arg1866=) c.5754G>C (p.Arg1918=) | |
12 | g.51807207G= | CA2036194841 | SCN8A | c.5721G= (p.Arg1907=) c.5598G= (p.Arg1866=) c.5754G= (p.Arg1918=) | |
12 | g.51807207G>T | CA480062295 | SCN8A | c.5721G>T (p.Arg1907=) c.5598G>T (p.Arg1866=) c.5754G>T (p.Arg1918=) | |
12 | g.51807208G>A | CA6571945 | SCN8A | c.5722G>A (p.Gly1908Arg) c.5599G>A (p.Gly1867Arg) c.5755G>A (p.Gly1919Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807208G>C | CA384888909 | SCN8A | c.5722G>C (p.Gly1908Arg) c.5599G>C (p.Gly1867Arg) c.5755G>C (p.Gly1919Arg) | |
12 | g.51807208G= | CA2036194842 | SCN8A | c.5722G= (p.Gly1908=) c.5599G= (p.Gly1867=) c.5755G= (p.Gly1919=) | |
12 | g.51807208G>T | CA384888913 | SCN8A | c.5722G>T (p.Gly1908Ter) c.5599G>T (p.Gly1867Ter) c.5755G>T (p.Gly1919Ter) | dbSNP |
12 | g.51807209G>A | CA384888921 | SCN8A | c.5723G>A (p.Gly1908Glu) c.5600G>A (p.Gly1867Glu) c.5756G>A (p.Gly1919Glu) | |
12 | g.51807209G>C | CA384888926 | SCN8A | c.5723G>C (p.Gly1908Ala) c.5600G>C (p.Gly1867Ala) c.5756G>C (p.Gly1919Ala) | |
12 | g.51807209G>T | CA384888931 | SCN8A | c.5723G>T (p.Gly1908Val) c.5600G>T (p.Gly1867Val) c.5756G>T (p.Gly1919Val) | |
12 | g.51807210A>C | CA480062302 | SCN8A | c.5724A>C (p.Gly1908=) c.5601A>C (p.Gly1867=) c.5757A>C (p.Gly1919=) | |
12 | g.51807210A>G | CA480062304 | SCN8A | c.5724A>G (p.Gly1908=) c.5601A>G (p.Gly1867=) c.5757A>G (p.Gly1919=) | |
12 | g.51807210A>T | CA480062306 | SCN8A | c.5724A>T (p.Gly1908=) c.5601A>T (p.Gly1867=) c.5757A>T (p.Gly1919=) | |
12 | g.51807211C>A | CA384888934 | SCN8A | c.5725C>A (p.His1909Asn) c.5602C>A (p.His1868Asn) c.5758C>A (p.His1920Asn) | |
12 | g.51807211C= | CA2036194848 | SCN8A | c.5725C= (p.His1909=) c.5602C= (p.His1868=) c.5758C= (p.His1920=) | |
12 | g.51807211C>G | CA384888936 | SCN8A | c.5725C>G (p.His1909Asp) c.5602C>G (p.His1868Asp) c.5758C>G (p.His1920Asp) | |
12 | g.51807211C>T | CA6571946 | SCN8A | c.5725C>T (p.His1909Tyr) c.5602C>T (p.His1868Tyr) c.5758C>T (p.His1920Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807212A= | CA2036194853 | SCN8A | c.5726A= (p.His1909=) c.5603A= (p.His1868=) c.5759A= (p.His1920=) | |
12 | g.51807212A>C | CA384888941 | SCN8A | c.5726A>C (p.His1909Pro) c.5603A>C (p.His1868Pro) c.5759A>C (p.His1920Pro) | |
12 | g.51807212A>G | CA384888942 | SCN8A | c.5726A>G (p.His1909Arg) c.5603A>G (p.His1868Arg) c.5759A>G (p.His1920Arg) | dbSNP gnomAD v4 |
12 | g.51807212A>T | CA384888945 | SCN8A | c.5726A>T (p.His1909Leu) c.5603A>T (p.His1868Leu) c.5759A>T (p.His1920Leu) | |
12 | g.51807213T>A | CA384888948 | SCN8A | c.5727T>A (p.His1909Gln) c.5604T>A (p.His1868Gln) c.5760T>A (p.His1920Gln) | |
12 | g.51807213T>C | CA480062310 | SCN8A | c.5727T>C (p.His1909=) c.5604T>C (p.His1868=) c.5760T>C (p.His1920=) | |
12 | g.51807213T>G | CA384888950 | SCN8A | c.5727T>G (p.His1909Gln) c.5604T>G (p.His1868Gln) c.5760T>G (p.His1920Gln) | |
12 | g.51807214T>A | CA384888953 | SCN8A | c.5728T>A (p.Leu1910Met) c.5605T>A (p.Leu1869Met) c.5761T>A (p.Leu1921Met) | |
12 | g.51807214T>C | CA480062311 | SCN8A | c.5728T>C (p.Leu1910=) c.5605T>C (p.Leu1869=) c.5761T>C (p.Leu1921=) | |
12 | g.51807214T>G | CA384888957 | SCN8A | c.5728T>G (p.Leu1910Val) c.5605T>G (p.Leu1869Val) c.5761T>G (p.Leu1921Val) | |
12 | g.51807215T>A | CA384888983 | SCN8A | c.5729T>A (p.Leu1910Ter) c.5606T>A (p.Leu1869Ter) c.5762T>A (p.Leu1921Ter) | dbSNP |
12 | g.51807215T>C | CA384888961 | SCN8A | c.5729T>C (p.Leu1910Ser) c.5606T>C (p.Leu1869Ser) c.5762T>C (p.Leu1921Ser) | |
12 | g.51807215T>G | CA384888964 | SCN8A | c.5729T>G (p.Leu1910Trp) c.5606T>G (p.Leu1869Trp) c.5762T>G (p.Leu1921Trp) | |
12 | g.51807215T= | CA2036194858 | SCN8A | c.5729T= (p.Leu1910=) c.5606T= (p.Leu1869=) c.5762T= (p.Leu1921=) | |
12 | g.51807216G>A | CA480062106 | SCN8A | c.5730G>A (p.Leu1910=) c.5607G>A (p.Leu1869=) c.5763G>A (p.Leu1921=) | |
12 | g.51807216G>C | CA384888988 | SCN8A | c.5730G>C (p.Leu1910Phe) c.5607G>C (p.Leu1869Phe) c.5763G>C (p.Leu1921Phe) | |
12 | g.51807216G>T | CA384888992 | SCN8A | c.5730G>T (p.Leu1910Phe) c.5607G>T (p.Leu1869Phe) c.5763G>T (p.Leu1921Phe) | |
12 | g.51807217G>A | CA384888996 | SCN8A | c.5731G>A (p.Ala1911Thr) c.5608G>A (p.Ala1870Thr) c.5764G>A (p.Ala1922Thr) | |
12 | g.51807217G>C | CA384889005 | SCN8A | c.5731G>C (p.Ala1911Pro) c.5608G>C (p.Ala1870Pro) c.5764G>C (p.Ala1922Pro) | |
12 | g.51807217G>T | CA384889008 | SCN8A | c.5731G>T (p.Ala1911Ser) c.5608G>T (p.Ala1870Ser) c.5764G>T (p.Ala1922Ser) | |
12 | g.51807218C>A | CA384889011 | SCN8A | c.5732C>A (p.Ala1911Glu) c.5609C>A (p.Ala1870Glu) c.5765C>A (p.Ala1922Glu) | |
12 | g.51807218C>G | CA384889012 | SCN8A | c.5732C>G (p.Ala1911Gly) c.5609C>G (p.Ala1870Gly) c.5765C>G (p.Ala1922Gly) | |
12 | g.51807218C>T | CA384889013 | SCN8A | c.5732C>T (p.Ala1911Val) c.5609C>T (p.Ala1870Val) c.5765C>T (p.Ala1922Val) | |
12 | g.51807219A>C | CA480062114 | SCN8A | c.5733A>C (p.Ala1911=) c.5610A>C (p.Ala1870=) c.5766A>C (p.Ala1922=) | |
12 | g.51807219A>G | CA480062115 | SCN8A | c.5733A>G (p.Ala1911=) c.5610A>G (p.Ala1870=) c.5766A>G (p.Ala1922=) | |
12 | g.51807219A>T | CA480062117 | SCN8A | c.5733A>T (p.Ala1911=) c.5610A>T (p.Ala1870=) c.5766A>T (p.Ala1922=) | |
12 | g.51807220A>C | CA480062118 | SCN8A | c.5734A>C (p.Arg1912=) c.5611A>C (p.Arg1871=) c.5767A>C (p.Arg1923=) | |
12 | g.51807220A>G | CA384889014 | SCN8A | c.5734A>G (p.Arg1912Gly) c.5611A>G (p.Arg1871Gly) c.5767A>G (p.Arg1923Gly) | |
12 | g.51807220A>T | CA384889015 | SCN8A | c.5734A>T (p.Arg1912Trp) c.5611A>T (p.Arg1871Trp) c.5767A>T (p.Arg1923Trp) | |
12 | g.51807221G>A | CA6571947 | SCN8A | c.5735G>A (p.Arg1912Lys) c.5612G>A (p.Arg1871Lys) c.5768G>A (p.Arg1923Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807221G>C | CA384889019 | SCN8A | c.5735G>C (p.Arg1912Thr) c.5612G>C (p.Arg1871Thr) c.5768G>C (p.Arg1923Thr) | |
12 | g.51807221G= | CA2036194861 | SCN8A | c.5735G= (p.Arg1912=) c.5612G= (p.Arg1871=) c.5768G= (p.Arg1923=) | |
12 | g.51807221G>T | CA384889023 | SCN8A | c.5735G>T (p.Arg1912Met) c.5612G>T (p.Arg1871Met) c.5768G>T (p.Arg1923Met) | |
12 | g.51807222G>A | CA480062128 | SCN8A | c.5736G>A (p.Arg1912=) c.5613G>A (p.Arg1871=) c.5769G>A (p.Arg1923=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807222G>C | CA384889024 | SCN8A | c.5736G>C (p.Arg1912Ser) c.5613G>C (p.Arg1871Ser) c.5769G>C (p.Arg1923Ser) | |
12 | g.51807222G= | CA2036194864 | SCN8A | c.5736G= (p.Arg1912=) c.5613G= (p.Arg1871=) c.5769G= (p.Arg1923=) | |
12 | g.51807222G>T | CA384889025 | SCN8A | c.5736G>T (p.Arg1912Ser) c.5613G>T (p.Arg1871Ser) c.5769G>T (p.Arg1923Ser) | |
12 | g.51807223C>A | CA480062131 | SCN8A | c.5737C>A (p.Arg1913=) c.5614C>A (p.Arg1872=) c.5770C>A (p.Arg1924=) | |
12 | g.51807223C= | CA2036194871 | SCN8A | c.5737C= (p.Arg1913=) c.5614C= (p.Arg1872=) c.5770C= (p.Arg1924=) | |
12 | g.51807223C>G | CA384889026 | SCN8A | c.5737C>G (p.Arg1913Gly) c.5614C>G (p.Arg1872Gly) c.5770C>G (p.Arg1924Gly) | |
12 | g.51807223C>T | CA384889027 | SCN8A | c.5737C>T (p.Arg1913Trp) c.5614C>T (p.Arg1872Trp) c.5770C>T (p.Arg1924Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.51807224G>A | CA384889029 | SCN8A | c.5738G>A (p.Arg1913Gln) c.5615G>A (p.Arg1872Gln) c.5771G>A (p.Arg1924Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.51807224G>C | CA384889030 | SCN8A | c.5738G>C (p.Arg1913Pro) c.5615G>C (p.Arg1872Pro) c.5771G>C (p.Arg1924Pro) | |
12 | g.51807224G= | CA2036194874 | SCN8A | c.5738G= (p.Arg1913=) c.5615G= (p.Arg1872=) c.5771G= (p.Arg1924=) | |
12 | g.51807224G>T | CA384889032 | SCN8A | c.5738G>T (p.Arg1913Leu) c.5615G>T (p.Arg1872Leu) c.5771G>T (p.Arg1924Leu) | |
12 | g.51807225G>A | CA480062141 | SCN8A | c.5739G>A (p.Arg1913=) c.5616G>A (p.Arg1872=) c.5772G>A (p.Arg1924=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807225G>C | CA480062143 | SCN8A | c.5739G>C (p.Arg1913=) c.5616G>C (p.Arg1872=) c.5772G>C (p.Arg1924=) | |
12 | g.51807225G= | CA2036194879 | SCN8A | c.5739G= (p.Arg1913=) c.5616G= (p.Arg1872=) c.5772G= (p.Arg1924=) | |
12 | g.51807225G>T | CA480062144 | SCN8A | c.5739G>T (p.Arg1913=) c.5616G>T (p.Arg1872=) c.5772G>T (p.Arg1924=) | |
12 | g.51807226G>A | CA384889034 | SCN8A | c.5740G>A (p.Gly1914Ser) c.5617G>A (p.Gly1873Ser) c.5773G>A (p.Gly1925Ser) | ClinVar gnomAD v4 |
12 | g.51807226G>C | CA384889036 | SCN8A | c.5740G>C (p.Gly1914Arg) c.5617G>C (p.Gly1873Arg) c.5773G>C (p.Gly1925Arg) | |
12 | g.51807226G>T | CA384889039 | SCN8A | c.5740G>T (p.Gly1914Cys) c.5617G>T (p.Gly1873Cys) c.5773G>T (p.Gly1925Cys) | ClinVar dbSNP |
12 | g.51807227G>A | CA384889047 | SCN8A | c.5741G>A (p.Gly1914Asp) c.5618G>A (p.Gly1873Asp) c.5774G>A (p.Gly1925Asp) | ClinVar |
12 | g.51807227G>C | CA384889050 | SCN8A | c.5741G>C (p.Gly1914Ala) c.5618G>C (p.Gly1873Ala) c.5774G>C (p.Gly1925Ala) | |
12 | g.51807227G>T | CA384889052 | SCN8A | c.5741G>T (p.Gly1914Val) c.5618G>T (p.Gly1873Val) c.5774G>T (p.Gly1925Val) | |
12 | g.51807228C>A | CA480062153 | SCN8A | c.5742C>A (p.Gly1914=) c.5619C>A (p.Gly1873=) c.5775C>A (p.Gly1925=) | |
12 | g.51807228C>G | CA480062154 | SCN8A | c.5742C>G (p.Gly1914=) c.5619C>G (p.Gly1873=) c.5775C>G (p.Gly1925=) | |
12 | g.51807228C>T | CA480062155 | SCN8A | c.5742C>T (p.Gly1914=) c.5619C>T (p.Gly1873=) c.5775C>T (p.Gly1925=) | |
12 | g.51807229T>A | CA384889058 | SCN8A | c.5743T>A (p.Phe1915Ile) c.5620T>A (p.Phe1874Ile) c.5776T>A (p.Phe1926Ile) | |
12 | g.51807229T>C | CA384889060 | SCN8A | c.5743T>C (p.Phe1915Leu) c.5620T>C (p.Phe1874Leu) c.5776T>C (p.Phe1926Leu) | |
12 | g.51807229T>G | CA384889062 | SCN8A | c.5743T>G (p.Phe1915Val) c.5620T>G (p.Phe1874Val) c.5776T>G (p.Phe1926Val) | |
12 | g.51807230T>A | CA384889065 | SCN8A | c.5744T>A (p.Phe1915Tyr) c.5621T>A (p.Phe1874Tyr) c.5777T>A (p.Phe1926Tyr) | |
12 | g.51807230T>C | CA384889072 | SCN8A | c.5744T>C (p.Phe1915Ser) c.5621T>C (p.Phe1874Ser) c.5777T>C (p.Phe1926Ser) | ClinVar dbSNP |
12 | g.51807230T>G | CA384889068 | SCN8A | c.5744T>G (p.Phe1915Cys) c.5621T>G (p.Phe1874Cys) c.5777T>G (p.Phe1926Cys) | |
12 | g.51807231C>A | CA384889078 | SCN8A | c.5745C>A (p.Phe1915Leu) c.5622C>A (p.Phe1874Leu) c.5778C>A (p.Phe1926Leu) | |
12 | g.51807231C= | CA2036194881 | SCN8A | c.5745C= (p.Phe1915=) c.5622C= (p.Phe1874=) c.5778C= (p.Phe1926=) | |
12 | g.51807231C>G | CA384889082 | SCN8A | c.5745C>G (p.Phe1915Leu) c.5622C>G (p.Phe1874Leu) c.5778C>G (p.Phe1926Leu) | |
12 | g.51807231C>T | CA6571948 | SCN8A | c.5745C>T (p.Phe1915=) c.5622C>T (p.Phe1874=) c.5778C>T (p.Phe1926=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807232A>C | CA384889088 | SCN8A | c.5746A>C (p.Ile1916Leu) c.5623A>C (p.Ile1875Leu) c.5779A>C (p.Ile1927Leu) | dbSNP |
12 | g.51807232A>G | CA384889091 | SCN8A | c.5746A>G (p.Ile1916Val) c.5623A>G (p.Ile1875Val) c.5779A>G (p.Ile1927Val) | |
12 | g.51807232A>T | CA384889093 | SCN8A | c.5746A>T (p.Ile1916Phe) c.5623A>T (p.Ile1875Phe) c.5779A>T (p.Ile1927Phe) | |
12 | g.51807233T>A | CA384889097 | SCN8A | c.5747T>A (p.Ile1916Asn) c.5624T>A (p.Ile1875Asn) c.5780T>A (p.Ile1927Asn) | |
12 | g.51807233T>C | CA384889099 | SCN8A | c.5747T>C (p.Ile1916Thr) c.5624T>C (p.Ile1875Thr) c.5780T>C (p.Ile1927Thr) | |
12 | g.51807233T>G | CA384889100 | SCN8A | c.5747T>G (p.Ile1916Ser) c.5624T>G (p.Ile1875Ser) c.5780T>G (p.Ile1927Ser) | |
12 | g.51807234C>A | CA480062171 | SCN8A | c.5748C>A (p.Ile1916=) c.5625C>A (p.Ile1875=) c.5781C>A (p.Ile1927=) | |
12 | g.51807234C= | CA2036194883 | SCN8A | c.5748C= (p.Ile1916=) c.5625C= (p.Ile1875=) c.5781C= (p.Ile1927=) | |
12 | g.51807234C>G | CA384889104 | SCN8A | c.5748C>G (p.Ile1916Met) c.5625C>G (p.Ile1875Met) c.5781C>G (p.Ile1927Met) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807234C>T | CA480062173 | SCN8A | c.5748C>T (p.Ile1916=) c.5625C>T (p.Ile1875=) c.5781C>T (p.Ile1927=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807235T>A | CA384889105 | SCN8A | c.5749T>A (p.Cys1917Ser) c.5626T>A (p.Cys1876Ser) c.5782T>A (p.Cys1928Ser) | |
12 | g.51807235T>C | CA384889106 | SCN8A | c.5749T>C (p.Cys1917Arg) c.5626T>C (p.Cys1876Arg) c.5782T>C (p.Cys1928Arg) | |
12 | g.51807235T>G | CA384889108 | SCN8A | c.5749T>G (p.Cys1917Gly) c.5626T>G (p.Cys1876Gly) c.5782T>G (p.Cys1928Gly) | |
12 | g.51807236G>A | CA384889113 | SCN8A | c.5750G>A (p.Cys1917Tyr) c.5627G>A (p.Cys1876Tyr) c.5783G>A (p.Cys1928Tyr) | |
12 | g.51807236G>C | CA384889117 | SCN8A | c.5750G>C (p.Cys1917Ser) c.5627G>C (p.Cys1876Ser) c.5783G>C (p.Cys1928Ser) | |
12 | g.51807236G>T | CA384889118 | SCN8A | c.5750G>T (p.Cys1917Phe) c.5627G>T (p.Cys1876Phe) c.5783G>T (p.Cys1928Phe) | |
12 | g.51807237C>A | CA384889132 | SCN8A | c.5751C>A (p.Cys1917Ter) c.5628C>A (p.Cys1876Ter) c.5784C>A (p.Cys1928Ter) | dbSNP |
12 | g.51807237C= | CA2036194888 | SCN8A | c.5751C= (p.Cys1917=) c.5628C= (p.Cys1876=) c.5784C= (p.Cys1928=) | |
12 | g.51807237C>G | CA384889136 | SCN8A | c.5751C>G (p.Cys1917Trp) c.5628C>G (p.Cys1876Trp) c.5784C>G (p.Cys1928Trp) | |
12 | g.51807237C>T | CA480062180 | SCN8A | c.5751C>T (p.Cys1917=) c.5628C>T (p.Cys1876=) c.5784C>T (p.Cys1928=) | gnomAD v4 |
12 | g.51807238A= | CA2036194894 | SCN8A | c.5752A= (p.Lys1918=) c.5629A= (p.Lys1877=) c.5785A= (p.Lys1929=) | |
12 | g.51807238A>C | CA384889139 | SCN8A | c.5752A>C (p.Lys1918Gln) c.5629A>C (p.Lys1877Gln) c.5785A>C (p.Lys1929Gln) | |
12 | g.51807238A>G | CA384889141 | SCN8A | c.5752A>G (p.Lys1918Glu) c.5629A>G (p.Lys1877Glu) c.5785A>G (p.Lys1929Glu) | |
12 | g.51807238A>T | CA384889144 | SCN8A | c.5752A>T (p.Lys1918Ter) c.5629A>T (p.Lys1877Ter) c.5785A>T (p.Lys1929Ter) | dbSNP |
12 | g.51807239A>C | CA384889148 | SCN8A | c.5753A>C (p.Lys1918Thr) c.5630A>C (p.Lys1877Thr) c.5786A>C (p.Lys1929Thr) | |
12 | g.51807239A>G | CA384889151 | SCN8A | c.5753A>G (p.Lys1918Arg) c.5630A>G (p.Lys1877Arg) c.5786A>G (p.Lys1929Arg) | |
12 | g.51807239A>T | CA384889154 | SCN8A | c.5753A>T (p.Lys1918Ile) c.5630A>T (p.Lys1877Ile) c.5786A>T (p.Lys1929Ile) | |
12 | g.51807240A= | CA2036194897 | SCN8A | c.5754A= (p.Lys1918=) c.5631A= (p.Lys1877=) c.5787A= (p.Lys1929=) | |
12 | g.51807240A>C | CA384889159 | SCN8A | c.5754A>C (p.Lys1918Asn) c.5631A>C (p.Lys1877Asn) c.5787A>C (p.Lys1929Asn) | |
12 | g.51807240A>G | CA480062194 | SCN8A | c.5754A>G (p.Lys1918=) c.5631A>G (p.Lys1877=) c.5787A>G (p.Lys1929=) | ClinVar dbSNP |
12 | g.51807240A>T | CA384889162 | SCN8A | c.5754A>T (p.Lys1918Asn) c.5631A>T (p.Lys1877Asn) c.5787A>T (p.Lys1929Asn) | |
12 | g.51807241A= | CA2036194902 | SCN8A | c.5755A= (p.Lys1919=) c.5632A= (p.Lys1878=) c.5788A= (p.Lys1930=) | |
12 | g.51807241A>C | CA384889166 | SCN8A | c.5755A>C (p.Lys1919Gln) c.5632A>C (p.Lys1878Gln) c.5788A>C (p.Lys1930Gln) | |
12 | g.51807241A>G | CA384889169 | SCN8A | c.5755A>G (p.Lys1919Glu) c.5632A>G (p.Lys1878Glu) c.5788A>G (p.Lys1930Glu) | |
12 | g.51807241A>T | CA384889171 | SCN8A | c.5755A>T (p.Lys1919Ter) c.5632A>T (p.Lys1878Ter) c.5788A>T (p.Lys1930Ter) | dbSNP |
12 | g.51807242A>C | CA384889182 | SCN8A | c.5756A>C (p.Lys1919Thr) c.5633A>C (p.Lys1878Thr) c.5789A>C (p.Lys1930Thr) | |
12 | g.51807242A>G | CA384889178 | SCN8A | c.5756A>G (p.Lys1919Arg) c.5633A>G (p.Lys1878Arg) c.5789A>G (p.Lys1930Arg) | |
12 | g.51807242A>T | CA384889175 | SCN8A | c.5756A>T (p.Lys1919Met) c.5633A>T (p.Lys1878Met) c.5789A>T (p.Lys1930Met) | |
12 | g.51807243G>A | CA6571949 | SCN8A | c.5757G>A (p.Lys1919=) c.5634G>A (p.Lys1878=) c.5790G>A (p.Lys1930=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807243G>C | CA384889186 | SCN8A | c.5757G>C (p.Lys1919Asn) c.5634G>C (p.Lys1878Asn) c.5790G>C (p.Lys1930Asn) | |
12 | g.51807243G= | CA2036194908 | SCN8A | c.5757G= (p.Lys1919=) c.5634G= (p.Lys1878=) c.5790G= (p.Lys1930=) | |
12 | g.51807243G>T | CA384889189 | SCN8A | c.5757G>T (p.Lys1919Asn) c.5634G>T (p.Lys1878Asn) c.5790G>T (p.Lys1930Asn) | dbSNP |
12 | g.51807244A>C | CA384889193 | SCN8A | c.5758A>C (p.Thr1920Pro) c.5635A>C (p.Thr1879Pro) c.5791A>C (p.Thr1931Pro) | ClinVar dbSNP gnomAD v4 |
12 | g.51807244A>G | CA384889211 | SCN8A | c.5758A>G (p.Thr1920Ala) c.5635A>G (p.Thr1879Ala) c.5791A>G (p.Thr1931Ala) | |
12 | g.51807244A>T | CA384889214 | SCN8A | c.5758A>T (p.Thr1920Ser) c.5635A>T (p.Thr1879Ser) c.5791A>T (p.Thr1931Ser) | |
12 | g.51807245C>A | CA384889217 | SCN8A | c.5759C>A (p.Thr1920Lys) c.5636C>A (p.Thr1879Lys) c.5792C>A (p.Thr1931Lys) | dbSNP |
12 | g.51807245C>G | CA384889221 | SCN8A | c.5759C>G (p.Thr1920Arg) c.5636C>G (p.Thr1879Arg) c.5792C>G (p.Thr1931Arg) | gnomAD v4 |
12 | g.51807245C>T | CA384889225 | SCN8A | c.5759C>T (p.Thr1920Ile) c.5636C>T (p.Thr1879Ile) c.5792C>T (p.Thr1931Ile) | gnomAD v4 |
12 | g.51807246A= | CA2036194916 | SCN8A | c.5760A= (p.Thr1920=) c.5637A= (p.Thr1879=) c.5793A= (p.Thr1931=) | |
12 | g.51807246A>C | CA6571950 | SCN8A | c.5760A>C (p.Thr1920=) c.5637A>C (p.Thr1879=) c.5793A>C (p.Thr1931=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807246A>G | CA480062212 | SCN8A | c.5760A>G (p.Thr1920=) c.5637A>G (p.Thr1879=) c.5793A>G (p.Thr1931=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807246A>T | CA480062213 | SCN8A | c.5760A>T (p.Thr1920=) c.5637A>T (p.Thr1879=) c.5793A>T (p.Thr1931=) | |
12 | g.51807247A= | CA2036194921 | SCN8A | c.5761A= (p.Thr1921=) c.5638A= (p.Thr1880=) c.5794A= (p.Thr1932=) | |
12 | g.51807247A>C | CA318303 | SCN8A | c.5761A>C (p.Thr1921Pro) c.5638A>C (p.Thr1880Pro) c.5794A>C (p.Thr1932Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807247A>G | CA6571951 | SCN8A | c.5761A>G (p.Thr1921Ala) c.5638A>G (p.Thr1880Ala) c.5794A>G (p.Thr1932Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807247A>T | CA384889231 | SCN8A | c.5761A>T (p.Thr1921Ser) c.5638A>T (p.Thr1880Ser) c.5794A>T (p.Thr1932Ser) | |
12 | g.51807248C>A | CA384889246 | SCN8A | c.5762C>A (p.Thr1921Asn) c.5639C>A (p.Thr1880Asn) c.5795C>A (p.Thr1932Asn) | gnomAD v4 |
12 | g.51807248C>G | CA384889235 | SCN8A | c.5762C>G (p.Thr1921Ser) c.5639C>G (p.Thr1880Ser) c.5795C>G (p.Thr1932Ser) | |
12 | g.51807248C>T | CA384889243 | SCN8A | c.5762C>T (p.Thr1921Ile) c.5639C>T (p.Thr1880Ile) c.5795C>T (p.Thr1932Ile) |