Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51807273C>A | CA480062293 | SCN8A | c.5787C>A (p.Gly1929=) c.5664C>A (p.Gly1888=) c.5820C>A (p.Gly1940=) | |
12 | g.51807273C>G | CA480062292 | SCN8A | c.5787C>G (p.Gly1929=) c.5664C>G (p.Gly1888=) c.5820C>G (p.Gly1940=) | |
12 | g.51807273C>T | CA480062291 | SCN8A | c.5787C>T (p.Gly1929=) c.5664C>T (p.Gly1888=) c.5820C>T (p.Gly1940=) | |
12 | g.51807274A>C | CA384889436 | SCN8A | c.5788A>C (p.Thr1930Pro) c.5665A>C (p.Thr1889Pro) c.5821A>C (p.Thr1941Pro) | |
12 | g.51807274A>G | CA384889449 | SCN8A | c.5788A>G (p.Thr1930Ala) c.5665A>G (p.Thr1889Ala) c.5821A>G (p.Thr1941Ala) | |
12 | g.51807274A>T | CA384889452 | SCN8A | c.5788A>T (p.Thr1930Ser) c.5665A>T (p.Thr1889Ser) c.5821A>T (p.Thr1941Ser) | |
12 | g.51807275C>A | CA384889455 | SCN8A | c.5789C>A (p.Thr1930Lys) c.5666C>A (p.Thr1889Lys) c.5822C>A (p.Thr1941Lys) | |
12 | g.51807275C= | CA2036194974 | SCN8A | c.5789C= (p.Thr1930=) c.5666C= (p.Thr1889=) c.5822C= (p.Thr1941=) | |
12 | g.51807275C>G | CA384889459 | SCN8A | c.5789C>G (p.Thr1930Arg) c.5666C>G (p.Thr1889Arg) c.5822C>G (p.Thr1941Arg) | |
12 | g.51807275C>T | CA6571954 | SCN8A | c.5789C>T (p.Thr1930Ile) c.5666C>T (p.Thr1889Ile) c.5822C>T (p.Thr1941Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807276A>C | CA480062298 | SCN8A | c.5790A>C (p.Thr1930=) c.5667A>C (p.Thr1889=) c.5823A>C (p.Thr1941=) | |
12 | g.51807276A>G | CA480062299 | SCN8A | c.5790A>G (p.Thr1930=) c.5667A>G (p.Thr1889=) c.5823A>G (p.Thr1941=) | gnomAD v4 |
12 | g.51807276A>T | CA480062301 | SCN8A | c.5790A>T (p.Thr1930=) c.5667A>T (p.Thr1889=) c.5823A>T (p.Thr1941=) | |
12 | g.51807277C>A | CA384889469 | SCN8A | c.5791C>A (p.His1931Asn) c.5668C>A (p.His1890Asn) c.5824C>A (p.His1942Asn) | |
12 | g.51807277C>G | CA384889463 | SCN8A | c.5791C>G (p.His1931Asp) c.5668C>G (p.His1890Asp) c.5824C>G (p.His1942Asp) | |
12 | g.51807277C>T | CA384889466 | SCN8A | c.5791C>T (p.His1931Tyr) c.5668C>T (p.His1890Tyr) c.5824C>T (p.His1942Tyr) | gnomAD v4 |
12 | g.51807278A>C | CA384889470 | SCN8A | c.5792A>C (p.His1931Pro) c.5669A>C (p.His1890Pro) c.5825A>C (p.His1942Pro) | |
12 | g.51807278A>G | CA384889471 | SCN8A | c.5792A>G (p.His1931Arg) c.5669A>G (p.His1890Arg) c.5825A>G (p.His1942Arg) | |
12 | g.51807278A>T | CA384889472 | SCN8A | c.5792A>T (p.His1931Leu) c.5669A>T (p.His1890Leu) c.5825A>T (p.His1942Leu) | |
12 | g.51807279C>A | CA384889475 | SCN8A | c.5793C>A (p.His1931Gln) c.5670C>A (p.His1890Gln) c.5826C>A (p.His1942Gln) | |
12 | g.51807279C= | CA2036194978 | SCN8A | c.5793C= (p.His1931=) c.5670C= (p.His1890=) c.5826C= (p.His1942=) | |
12 | g.51807279C>G | CA384889477 | SCN8A | c.5793C>G (p.His1931Gln) c.5670C>G (p.His1890Gln) c.5826C>G (p.His1942Gln) | ClinVar dbSNP |
12 | g.51807279C>T | CA480062308 | SCN8A | c.5793C>T (p.His1931=) c.5670C>T (p.His1890=) c.5826C>T (p.His1942=) | |
12 | g.51807280C>A | CA480062309 | SCN8A | c.5794C>A (p.Arg1932=) c.5671C>A (p.Arg1891=) c.5827C>A (p.Arg1943=) | |
12 | g.51807280C= | CA2036194982 | SCN8A | c.5794C= (p.Arg1932=) c.5671C= (p.Arg1891=) c.5827C= (p.Arg1943=) | |
12 | g.51807280C>G | CA384889485 | SCN8A | c.5794C>G (p.Arg1932Gly) c.5671C>G (p.Arg1891Gly) c.5827C>G (p.Arg1943Gly) | |
12 | g.51807280C>T | CA6571955 | SCN8A | c.5794C>T (p.Arg1932Trp) c.5671C>T (p.Arg1891Trp) c.5827C>T (p.Arg1943Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807281G>A | CA6571956 | SCN8A | c.5795G>A (p.Arg1932Gln) c.5672G>A (p.Arg1891Gln) c.5828G>A (p.Arg1943Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807281G>C | CA318305 | SCN8A | c.5795G>C (p.Arg1932Pro) c.5672G>C (p.Arg1891Pro) c.5828G>C (p.Arg1943Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807281G= | CA2036194990 | SCN8A | c.5795G= (p.Arg1932=) c.5672G= (p.Arg1891=) c.5828G= (p.Arg1943=) | |
12 | g.51807281G>T | CA384889496 | SCN8A | c.5795G>T (p.Arg1932Leu) c.5672G>T (p.Arg1891Leu) c.5828G>T (p.Arg1943Leu) | |
12 | g.51807282G>A | CA480062316 | SCN8A | c.5796G>A (p.Arg1932=) c.5673G>A (p.Arg1891=) c.5829G>A (p.Arg1943=) | ClinVar dbSNP |
12 | g.51807282G>C | CA480062317 | SCN8A | c.5796G>C (p.Arg1932=) c.5673G>C (p.Arg1891=) c.5829G>C (p.Arg1943=) | |
12 | g.51807282G>T | CA480062319 | SCN8A | c.5796G>T (p.Arg1932=) c.5673G>T (p.Arg1891=) c.5829G>T (p.Arg1943=) | |
12 | g.51807283G>A | CA384889498 | SCN8A | c.5797G>A (p.Glu1933Lys) c.5674G>A (p.Glu1892Lys) c.5830G>A (p.Glu1944Lys) | |
12 | g.51807283G>C | CA384889500 | SCN8A | c.5797G>C (p.Glu1933Gln) c.5674G>C (p.Glu1892Gln) c.5830G>C (p.Glu1944Gln) | |
12 | g.51807283G= | CA2036194995 | SCN8A | c.5797G= (p.Glu1933=) c.5674G= (p.Glu1892=) c.5830G= (p.Glu1944=) | |
12 | g.51807283G>T | CA384889501 | SCN8A | c.5797G>T (p.Glu1933Ter) c.5674G>T (p.Glu1892Ter) c.5830G>T (p.Glu1944Ter) | dbSNP |
12 | g.51807284A>C | CA384889509 | SCN8A | c.5798A>C (p.Glu1933Ala) c.5675A>C (p.Glu1892Ala) c.5831A>C (p.Glu1944Ala) | |
12 | g.51807284A>G | CA384889506 | SCN8A | c.5798A>G (p.Glu1933Gly) c.5675A>G (p.Glu1892Gly) c.5831A>G (p.Glu1944Gly) | |
12 | g.51807284A>T | CA384889504 | SCN8A | c.5798A>T (p.Glu1933Val) c.5675A>T (p.Glu1892Val) c.5831A>T (p.Glu1944Val) | |
12 | g.51807285G>A | CA480062324 | SCN8A | c.5799G>A (p.Glu1933=) c.5676G>A (p.Glu1892=) c.5832G>A (p.Glu1944=) | |
12 | g.51807285G>C | CA384889513 | SCN8A | c.5799G>C (p.Glu1933Asp) c.5676G>C (p.Glu1892Asp) c.5832G>C (p.Glu1944Asp) | |
12 | g.51807285G>T | CA384889512 | SCN8A | c.5799G>T (p.Glu1933Asp) c.5676G>T (p.Glu1892Asp) c.5832G>T (p.Glu1944Asp) | |
12 | g.51807286A= | CA2036194998 | SCN8A | c.5800A= (p.Lys1934=) c.5677A= (p.Lys1893=) c.5833A= (p.Lys1945=) | |
12 | g.51807286A>C | CA384889516 | SCN8A | c.5800A>C (p.Lys1934Gln) c.5677A>C (p.Lys1893Gln) c.5833A>C (p.Lys1945Gln) | |
12 | g.51807286A>G | CA384889514 | SCN8A | c.5800A>G (p.Lys1934Glu) c.5677A>G (p.Lys1893Glu) c.5833A>G (p.Lys1945Glu) | ClinVar dbSNP |
12 | g.51807286A>T | CA384889515 | SCN8A | c.5800A>T (p.Lys1934Ter) c.5677A>T (p.Lys1893Ter) c.5833A>T (p.Lys1945Ter) | dbSNP |
12 | g.51807287A>C | CA384889517 | SCN8A | c.5801A>C (p.Lys1934Thr) c.5678A>C (p.Lys1893Thr) c.5834A>C (p.Lys1945Thr) | gnomAD v4 |
12 | g.51807287A>G | CA384889518 | SCN8A | c.5801A>G (p.Lys1934Arg) c.5678A>G (p.Lys1893Arg) c.5834A>G (p.Lys1945Arg) | gnomAD v4 |
12 | g.51807287A>T | CA384889521 | SCN8A | c.5801A>T (p.Lys1934Ile) c.5678A>T (p.Lys1893Ile) c.5834A>T (p.Lys1945Ile) | |
12 | g.51807288A>C | CA384889524 | SCN8A | c.5802A>C (p.Lys1934Asn) c.5679A>C (p.Lys1893Asn) c.5835A>C (p.Lys1945Asn) | |
12 | g.51807288A>G | CA480062334 | SCN8A | c.5802A>G (p.Lys1934=) c.5679A>G (p.Lys1893=) c.5835A>G (p.Lys1945=) | |
12 | g.51807288A>T | CA384889526 | SCN8A | c.5802A>T (p.Lys1934Asn) c.5679A>T (p.Lys1893Asn) c.5835A>T (p.Lys1945Asn) | COSMIC COSMIC |
12 | g.51807289A= | CA2036195001 | SCN8A | c.5803A= (p.Lys1935=) c.5680A= (p.Lys1894=) c.5836A= (p.Lys1946=) | |
12 | g.51807289A>C | CA384889528 | SCN8A | c.5803A>C (p.Lys1935Gln) c.5680A>C (p.Lys1894Gln) c.5836A>C (p.Lys1946Gln) | |
12 | g.51807289A>G | CA384889530 | SCN8A | c.5803A>G (p.Lys1935Glu) c.5680A>G (p.Lys1894Glu) c.5836A>G (p.Lys1946Glu) | |
12 | g.51807289A>T | CA384889533 | SCN8A | c.5803A>T (p.Lys1935Ter) c.5680A>T (p.Lys1894Ter) c.5836A>T (p.Lys1946Ter) | dbSNP |
12 | g.51807290A>C | CA384889539 | SCN8A | c.5804A>C (p.Lys1935Thr) c.5681A>C (p.Lys1894Thr) c.5837A>C (p.Lys1946Thr) | |
12 | g.51807290A>G | CA384889540 | SCN8A | c.5804A>G (p.Lys1935Arg) c.5681A>G (p.Lys1894Arg) c.5837A>G (p.Lys1946Arg) | |
12 | g.51807290A>T | CA384889541 | SCN8A | c.5804A>T (p.Lys1935Ile) c.5681A>T (p.Lys1894Ile) c.5837A>T (p.Lys1946Ile) | |
12 | g.51807290_51807292delinsAAG | CA2036195005 | SCN8A | c.5804_5806delinsAAG (p.Lys1935=) c.5681_5683delinsAAG (p.Lys1894=) c.5837_5839delinsAAG (p.Lys1946=) | |
12 | g.51807291A>C | CA384889542 | SCN8A | c.5805A>C (p.Lys1935Asn) c.5682A>C (p.Lys1894Asn) c.5838A>C (p.Lys1946Asn) | |
12 | g.51807291A>G | CA480062339 | SCN8A | c.5805A>G (p.Lys1935=) c.5682A>G (p.Lys1894=) c.5838A>G (p.Lys1946=) | gnomAD v4 |
12 | g.51807291A>T | CA384889543 | SCN8A | c.5805A>T (p.Lys1935Asn) c.5682A>T (p.Lys1894Asn) c.5838A>T (p.Lys1946Asn) | |
12 | g.51807295_51807296del | CA689783793 | SCN8A | c.5809_5810del (p.Ser1937HisfsTer11) c.5686_5687del (p.Ser1896HisfsTer11) c.5842_5843del (p.Ser1948HisfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807292G>A | CA384889545 | SCN8A | c.5806G>A (p.Glu1936Lys) c.5683G>A (p.Glu1895Lys) c.5839G>A (p.Glu1947Lys) | |
12 | g.51807292G>C | CA384889558 | SCN8A | c.5806G>C (p.Glu1936Gln) c.5683G>C (p.Glu1895Gln) c.5839G>C (p.Glu1947Gln) | gnomAD v4 |
12 | g.51807292G= | CA2036195012 | SCN8A | c.5806G= (p.Glu1936=) c.5683G= (p.Glu1895=) c.5839G= (p.Glu1947=) | |
12 | g.51807292G>T | CA384889560 | SCN8A | c.5806G>T (p.Glu1936Ter) c.5683G>T (p.Glu1895Ter) c.5839G>T (p.Glu1947Ter) | dbSNP |
12 | g.51807293A>C | CA384889561 | SCN8A | c.5807A>C (p.Glu1936Ala) c.5684A>C (p.Glu1895Ala) c.5840A>C (p.Glu1947Ala) | |
12 | g.51807293A>G | CA384889562 | SCN8A | c.5807A>G (p.Glu1936Gly) c.5684A>G (p.Glu1895Gly) c.5840A>G (p.Glu1947Gly) | |
12 | g.51807293A>T | CA384889564 | SCN8A | c.5807A>T (p.Glu1936Val) c.5684A>T (p.Glu1895Val) c.5840A>T (p.Glu1947Val) | |
12 | g.51807294G>A | CA480062344 | SCN8A | c.5808G>A (p.Glu1936=) c.5685G>A (p.Glu1895=) c.5841G>A (p.Glu1947=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807294G>C | CA384889567 | SCN8A | c.5808G>C (p.Glu1936Asp) c.5685G>C (p.Glu1895Asp) c.5841G>C (p.Glu1947Asp) | |
12 | g.51807294G= | CA2036195016 | SCN8A | c.5808G= (p.Glu1936=) c.5685G= (p.Glu1895=) c.5841G= (p.Glu1947=) | |
12 | g.51807294G>T | CA384889572 | SCN8A | c.5808G>T (p.Glu1936Asp) c.5685G>T (p.Glu1895Asp) c.5841G>T (p.Glu1947Asp) | |
12 | g.51807295A= | CA2036195022 | SCN8A | c.5809A= (p.Ser1937=) c.5686A= (p.Ser1896=) c.5842A= (p.Ser1948=) | |
12 | g.51807295A>C | CA318307 | SCN8A | c.5809A>C (p.Ser1937Arg) c.5686A>C (p.Ser1896Arg) c.5842A>C (p.Ser1948Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807295A>G | CA384889580 | SCN8A | c.5809A>G (p.Ser1937Gly) c.5686A>G (p.Ser1896Gly) c.5842A>G (p.Ser1948Gly) | |
12 | g.51807295A>T | CA384889588 | SCN8A | c.5809A>T (p.Ser1937Cys) c.5686A>T (p.Ser1896Cys) c.5842A>T (p.Ser1948Cys) | |
12 | g.51807296G>A | CA384889594 | SCN8A | c.5810G>A (p.Ser1937Asn) c.5687G>A (p.Ser1896Asn) c.5843G>A (p.Ser1948Asn) | |
12 | g.51807296G>C | CA384889602 | SCN8A | c.5810G>C (p.Ser1937Thr) c.5687G>C (p.Ser1896Thr) c.5843G>C (p.Ser1948Thr) | |
12 | g.51807296G>T | CA384889591 | SCN8A | c.5810G>T (p.Ser1937Ile) c.5687G>T (p.Ser1896Ile) c.5843G>T (p.Ser1948Ile) | COSMIC COSMIC |
12 | g.51807297C>A | CA384889605 | SCN8A | c.5811C>A (p.Ser1937Arg) c.5688C>A (p.Ser1896Arg) c.5844C>A (p.Ser1948Arg) | |
12 | g.51807297C>G | CA384889608 | SCN8A | c.5811C>G (p.Ser1937Arg) c.5688C>G (p.Ser1896Arg) c.5844C>G (p.Ser1948Arg) | |
12 | g.51807297C>T | CA480062352 | SCN8A | c.5811C>T (p.Ser1937=) c.5688C>T (p.Ser1896=) c.5844C>T (p.Ser1948=) | |
12 | g.51807298A>C | CA384889623 | SCN8A | c.5812A>C (p.Thr1938Pro) c.5689A>C (p.Thr1897Pro) c.5845A>C (p.Thr1949Pro) | gnomAD v4 |
12 | g.51807298A>G | CA384889627 | SCN8A | c.5812A>G (p.Thr1938Ala) c.5689A>G (p.Thr1897Ala) c.5845A>G (p.Thr1949Ala) | |
12 | g.51807298A>T | CA384889630 | SCN8A | c.5812A>T (p.Thr1938Ser) c.5689A>T (p.Thr1897Ser) c.5845A>T (p.Thr1949Ser) | |
12 | g.51807299C>A | CA6571957 | SCN8A | c.5813C>A (p.Thr1938Asn) c.5690C>A (p.Thr1897Asn) c.5846C>A (p.Thr1949Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807299C= | CA2036195026 | SCN8A | c.5813C= (p.Thr1938=) c.5690C= (p.Thr1897=) c.5846C= (p.Thr1949=) | |
12 | g.51807299C>G | CA384889634 | SCN8A | c.5813C>G (p.Thr1938Ser) c.5690C>G (p.Thr1897Ser) c.5846C>G (p.Thr1949Ser) | |
12 | g.51807299C>T | CA384889633 | SCN8A | c.5813C>T (p.Thr1938Ile) c.5690C>T (p.Thr1897Ile) c.5846C>T (p.Thr1949Ile) | |
12 | g.51807300C>A | CA480062355 | SCN8A | c.5814C>A (p.Thr1938=) c.5691C>A (p.Thr1897=) c.5847C>A (p.Thr1949=) | |
12 | g.51807300C>G | CA480062357 | SCN8A | c.5814C>G (p.Thr1938=) c.5691C>G (p.Thr1897=) c.5847C>G (p.Thr1949=) | |
12 | g.51807300C>T | CA480062356 | SCN8A | c.5814C>T (p.Thr1938=) c.5691C>T (p.Thr1897=) c.5847C>T (p.Thr1949=) | |
12 | g.51807301C>A | CA384889635 | SCN8A | c.5815C>A (p.Pro1939Thr) c.5692C>A (p.Pro1898Thr) c.5848C>A (p.Pro1950Thr) | COSMIC COSMIC |
12 | g.51807301C>G | CA384889637 | SCN8A | c.5815C>G (p.Pro1939Ala) c.5692C>G (p.Pro1898Ala) c.5848C>G (p.Pro1950Ala) | |
12 | g.51807301C>T | CA384889639 | SCN8A | c.5815C>T (p.Pro1939Ser) c.5692C>T (p.Pro1898Ser) c.5848C>T (p.Pro1950Ser) | |
12 | g.51807302C>A | CA384889644 | SCN8A | c.5816C>A (p.Pro1939Gln) c.5693C>A (p.Pro1898Gln) c.5849C>A (p.Pro1950Gln) | |
12 | g.51807302C= | CA2036195030 | SCN8A | c.5816C= (p.Pro1939=) c.5693C= (p.Pro1898=) c.5849C= (p.Pro1950=) | |
12 | g.51807302C>G | CA384889647 | SCN8A | c.5816C>G (p.Pro1939Arg) c.5693C>G (p.Pro1898Arg) c.5849C>G (p.Pro1950Arg) | |
12 | g.51807302C>T | CA384889653 | SCN8A | c.5816C>T (p.Pro1939Leu) c.5693C>T (p.Pro1898Leu) c.5849C>T (p.Pro1950Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807303_51807305dup | CA2618842382 | SCN8A | c.5817_5819dup (p.Ser1940_Thr1941insSer) c.5694_5696dup (p.Ser1899_Thr1900insSer) c.5850_5852dup (p.Ser1951_Thr1952insSer) | gnomAD v4 |
12 | g.51807303A= | CA2036195032 | SCN8A | c.5817A= (p.Pro1939=) c.5694A= (p.Pro1898=) c.5850A= (p.Pro1950=) | |
12 | g.51807303A>C | CA480062358 | SCN8A | c.5817A>C (p.Pro1939=) c.5694A>C (p.Pro1898=) c.5850A>C (p.Pro1950=) | |
12 | g.51807303A>G | CA480062359 | SCN8A | c.5817A>G (p.Pro1939=) c.5694A>G (p.Pro1898=) c.5850A>G (p.Pro1950=) | dbSNP gnomAD v4 |
12 | g.51807303A>T | CA480062360 | SCN8A | c.5817A>T (p.Pro1939=) c.5694A>T (p.Pro1898=) c.5850A>T (p.Pro1950=) | |
12 | g.51807304T>A | CA384889657 | SCN8A | c.5818T>A (p.Ser1940Thr) c.5695T>A (p.Ser1899Thr) c.5851T>A (p.Ser1951Thr) | |
12 | g.51807304T>C | CA384889661 | SCN8A | c.5818T>C (p.Ser1940Pro) c.5695T>C (p.Ser1899Pro) c.5851T>C (p.Ser1951Pro) | |
12 | g.51807304T>G | CA384889659 | SCN8A | c.5818T>G (p.Ser1940Ala) c.5695T>G (p.Ser1899Ala) c.5851T>G (p.Ser1951Ala) | |
12 | g.51807305C>A | CA384889664 | SCN8A | c.5819C>A (p.Ser1940Tyr) c.5696C>A (p.Ser1899Tyr) c.5852C>A (p.Ser1951Tyr) | gnomAD v4 |
12 | g.51807305C>G | CA384889666 | SCN8A | c.5819C>G (p.Ser1940Cys) c.5696C>G (p.Ser1899Cys) c.5852C>G (p.Ser1951Cys) | |
12 | g.51807305C>T | CA384889667 | SCN8A | c.5819C>T (p.Ser1940Phe) c.5696C>T (p.Ser1899Phe) c.5852C>T (p.Ser1951Phe) | |
12 | g.51807306T>A | CA480062365 | SCN8A | c.5820T>A (p.Ser1940=) c.5697T>A (p.Ser1899=) c.5853T>A (p.Ser1951=) | |
12 | g.51807306T>C | CA480062366 | SCN8A | c.5820T>C (p.Ser1940=) c.5697T>C (p.Ser1899=) c.5853T>C (p.Ser1951=) | |
12 | g.51807306T>G | CA480062367 | SCN8A | c.5820T>G (p.Ser1940=) c.5697T>G (p.Ser1899=) c.5853T>G (p.Ser1951=) | |
12 | g.51807307A>C | CA384889676 | SCN8A | c.5821A>C (p.Thr1941Pro) c.5698A>C (p.Thr1900Pro) c.5854A>C (p.Thr1952Pro) | |
12 | g.51807307A>G | CA384889678 | SCN8A | c.5821A>G (p.Thr1941Ala) c.5698A>G (p.Thr1900Ala) c.5854A>G (p.Thr1952Ala) | |
12 | g.51807307A>T | CA384889681 | SCN8A | c.5821A>T (p.Thr1941Ser) c.5698A>T (p.Thr1900Ser) c.5854A>T (p.Thr1952Ser) | |
12 | g.51807308C>A | CA384889683 | SCN8A | c.5822C>A (p.Thr1941Lys) c.5699C>A (p.Thr1900Lys) c.5855C>A (p.Thr1952Lys) | |
12 | g.51807308C>G | CA384889686 | SCN8A | c.5822C>G (p.Thr1941Arg) c.5699C>G (p.Thr1900Arg) c.5855C>G (p.Thr1952Arg) | |
12 | g.51807308C>T | CA384889687 | SCN8A | c.5822C>T (p.Thr1941Ile) c.5699C>T (p.Thr1900Ile) c.5855C>T (p.Thr1952Ile) | |
12 | g.51807309del | CA2573148738 | SCN8A | c.5823del (p.Ala1942ProfsTer9) c.5700del (p.Ala1901ProfsTer9) c.5856del (p.Ala1953ProfsTer9) | ClinVar dbSNP |
12 | g.51807309A>C | CA480062368 | SCN8A | c.5823A>C (p.Thr1941=) c.5700A>C (p.Thr1900=) c.5856A>C (p.Thr1952=) | ClinVar |
12 | g.51807309A>G | CA480062369 | SCN8A | c.5823A>G (p.Thr1941=) c.5700A>G (p.Thr1900=) c.5856A>G (p.Thr1952=) | |
12 | g.51807309A>T | CA480062370 | SCN8A | c.5823A>T (p.Thr1941=) c.5700A>T (p.Thr1900=) c.5856A>T (p.Thr1952=) | |
12 | g.51807310G>A | CA384889688 | SCN8A | c.5824G>A (p.Ala1942Thr) c.5701G>A (p.Ala1901Thr) c.5857G>A (p.Ala1953Thr) | |
12 | g.51807310G>C | CA384889689 | SCN8A | c.5824G>C (p.Ala1942Pro) c.5701G>C (p.Ala1901Pro) c.5857G>C (p.Ala1953Pro) | |
12 | g.51807310G>T | CA384889691 | SCN8A | c.5824G>T (p.Ala1942Ser) c.5701G>T (p.Ala1901Ser) c.5857G>T (p.Ala1953Ser) | |
12 | g.51807311C>A | CA384889695 | SCN8A | c.5825C>A (p.Ala1942Asp) c.5702C>A (p.Ala1901Asp) c.5858C>A (p.Ala1953Asp) | |
12 | g.51807311C= | CA2036195036 | SCN8A | c.5825C= (p.Ala1942=) c.5702C= (p.Ala1901=) c.5858C= (p.Ala1953=) | |
12 | g.51807311C>G | CA384889700 | SCN8A | c.5825C>G (p.Ala1942Gly) c.5702C>G (p.Ala1901Gly) c.5858C>G (p.Ala1953Gly) | COSMIC COSMIC |
12 | g.51807311C>T | CA236327893 | SCN8A | c.5825C>T (p.Ala1942Val) c.5702C>T (p.Ala1901Val) c.5858C>T (p.Ala1953Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807312C>A | CA480062375 | SCN8A | c.5826C>A (p.Ala1942=) c.5703C>A (p.Ala1901=) c.5859C>A (p.Ala1953=) | |
12 | g.51807312C= | CA2036195039 | SCN8A | c.5826C= (p.Ala1942=) c.5703C= (p.Ala1901=) c.5859C= (p.Ala1953=) | |
12 | g.51807312C>G | CA6571958 | SCN8A | c.5826C>G (p.Ala1942=) c.5703C>G (p.Ala1901=) c.5859C>G (p.Ala1953=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807312C>T | CA480062377 | SCN8A | c.5826C>T (p.Ala1942=) c.5703C>T (p.Ala1901=) c.5859C>T (p.Ala1953=) | gnomAD v4 |
12 | g.51807313T>A | CA384889704 | SCN8A | c.5827T>A (p.Ser1943Thr) c.5704T>A (p.Ser1902Thr) c.5860T>A (p.Ser1954Thr) | |
12 | g.51807313T>C | CA384889724 | SCN8A | c.5827T>C (p.Ser1943Pro) c.5704T>C (p.Ser1902Pro) c.5860T>C (p.Ser1954Pro) | |
12 | g.51807313T>G | CA384889726 | SCN8A | c.5827T>G (p.Ser1943Ala) c.5704T>G (p.Ser1902Ala) c.5860T>G (p.Ser1954Ala) | |
12 | g.51807314C>A | CA384889734 | SCN8A | c.5828C>A (p.Ser1943Tyr) c.5705C>A (p.Ser1902Tyr) c.5861C>A (p.Ser1954Tyr) | |
12 | g.51807314C>G | CA384889736 | SCN8A | c.5828C>G (p.Ser1943Cys) c.5705C>G (p.Ser1902Cys) c.5861C>G (p.Ser1954Cys) | |
12 | g.51807314C>T | CA384889746 | SCN8A | c.5828C>T (p.Ser1943Phe) c.5705C>T (p.Ser1902Phe) c.5861C>T (p.Ser1954Phe) | |
12 | g.51807314_51807315delinsTT | CA645591096 | SCN8A | c.5828_5829delinsTT (p.Ser1943Phe) c.5705_5706delinsTT (p.Ser1902Phe) c.5861_5862delinsTT (p.Ser1954Phe) | COSMIC COSMIC |
12 | g.51807315C>A | CA480062384 | SCN8A | c.5829C>A (p.Ser1943=) c.5706C>A (p.Ser1902=) c.5862C>A (p.Ser1954=) | |
12 | g.51807315C>G | CA480062385 | SCN8A | c.5829C>G (p.Ser1943=) c.5706C>G (p.Ser1902=) c.5862C>G (p.Ser1954=) | |
12 | g.51807315C>T | CA480062386 | SCN8A | c.5829C>T (p.Ser1943=) c.5706C>T (p.Ser1902=) c.5862C>T (p.Ser1954=) | COSMIC COSMIC |
12 | g.51807316C>A | CA384889750 | SCN8A | c.5830C>A (p.Leu1944Ile) c.5707C>A (p.Leu1903Ile) c.5863C>A (p.Leu1955Ile) | |
12 | g.51807316C>G | CA384889751 | SCN8A | c.5830C>G (p.Leu1944Val) c.5707C>G (p.Leu1903Val) c.5863C>G (p.Leu1955Val) | |
12 | g.51807316C>T | CA384889752 | SCN8A | c.5830C>T (p.Leu1944Phe) c.5707C>T (p.Leu1903Phe) c.5863C>T (p.Leu1955Phe) | gnomAD v4 |
12 | g.51807317T>A | CA384889753 | SCN8A | c.5831T>A (p.Leu1944His) c.5708T>A (p.Leu1903His) c.5864T>A (p.Leu1955His) | |
12 | g.51807317T>C | CA384889754 | SCN8A | c.5831T>C (p.Leu1944Pro) c.5708T>C (p.Leu1903Pro) c.5864T>C (p.Leu1955Pro) | |
12 | g.51807317T>G | CA384889755 | SCN8A | c.5831T>G (p.Leu1944Arg) c.5708T>G (p.Leu1903Arg) c.5864T>G (p.Leu1955Arg) | |
12 | g.51807318C>A | CA480062391 | SCN8A | c.5832C>A (p.Leu1944=) c.5709C>A (p.Leu1903=) c.5865C>A (p.Leu1955=) | gnomAD v4 |
12 | g.51807318C= | CA2036195041 | SCN8A | c.5832C= (p.Leu1944=) c.5709C= (p.Leu1903=) c.5865C= (p.Leu1955=) | |
12 | g.51807318C>G | CA480062393 | SCN8A | c.5832C>G (p.Leu1944=) c.5709C>G (p.Leu1903=) c.5865C>G (p.Leu1955=) | gnomAD v4 |
12 | g.51807318C>T | CA480062394 | SCN8A | c.5832C>T (p.Leu1944=) c.5709C>T (p.Leu1903=) c.5865C>T (p.Leu1955=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807319C>A | CA384889765 | SCN8A | c.5833C>A (p.Pro1945Thr) c.5710C>A (p.Pro1904Thr) c.5866C>A (p.Pro1956Thr) | |
12 | g.51807319C>G | CA384889761 | SCN8A | c.5833C>G (p.Pro1945Ala) c.5710C>G (p.Pro1904Ala) c.5866C>G (p.Pro1956Ala) | |
12 | g.51807319C>T | CA384889757 | SCN8A | c.5833C>T (p.Pro1945Ser) c.5710C>T (p.Pro1904Ser) c.5866C>T (p.Pro1956Ser) | |
12 | g.51807320C>A | CA384889780 | SCN8A | c.5834C>A (p.Pro1945Gln) c.5711C>A (p.Pro1904Gln) c.5867C>A (p.Pro1956Gln) | |
12 | g.51807320C= | CA2036195044 | SCN8A | c.5834C= (p.Pro1945=) c.5711C= (p.Pro1904=) c.5867C= (p.Pro1956=) | |
12 | g.51807320C>G | CA384889782 | SCN8A | c.5834C>G (p.Pro1945Arg) c.5711C>G (p.Pro1904Arg) c.5867C>G (p.Pro1956Arg) | gnomAD v4 |
12 | g.51807320C>T | CA6571959 | SCN8A | c.5834C>T (p.Pro1945Leu) c.5711C>T (p.Pro1904Leu) c.5867C>T (p.Pro1956Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807321G>A | CA6571960 | SCN8A | c.5835G>A (p.Pro1945=) c.5712G>A (p.Pro1904=) c.5868G>A (p.Pro1956=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807321G>C | CA480062397 | SCN8A | c.5835G>C (p.Pro1945=) c.5712G>C (p.Pro1904=) c.5868G>C (p.Pro1956=) | |
12 | g.51807321G= | CA2036195047 | SCN8A | c.5835G= (p.Pro1945=) c.5712G= (p.Pro1904=) c.5868G= (p.Pro1956=) | |
12 | g.51807321G>T | CA480062396 | SCN8A | c.5835G>T (p.Pro1945=) c.5712G>T (p.Pro1904=) c.5868G>T (p.Pro1956=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807322T>A | CA6571961 | SCN8A | c.5836T>A (p.Ser1946Thr) c.5713T>A (p.Ser1905Thr) c.5869T>A (p.Ser1957Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807322T>C | CA384889787 | SCN8A | c.5836T>C (p.Ser1946Pro) c.5713T>C (p.Ser1905Pro) c.5869T>C (p.Ser1957Pro) | |
12 | g.51807322T>G | CA384889788 | SCN8A | c.5836T>G (p.Ser1946Ala) c.5713T>G (p.Ser1905Ala) c.5869T>G (p.Ser1957Ala) | |
12 | g.51807322T= | CA2036195050 | SCN8A | c.5836T= (p.Ser1946=) c.5713T= (p.Ser1905=) c.5869T= (p.Ser1957=) | |
12 | g.51807323C>A | CA384889792 | SCN8A | c.5837C>A (p.Ser1946Tyr) c.5714C>A (p.Ser1905Tyr) c.5870C>A (p.Ser1957Tyr) | |
12 | g.51807323C>G | CA384889794 | SCN8A | c.5837C>G (p.Ser1946Cys) c.5714C>G (p.Ser1905Cys) c.5870C>G (p.Ser1957Cys) | |
12 | g.51807323C>T | CA384889797 | SCN8A | c.5837C>T (p.Ser1946Phe) c.5714C>T (p.Ser1905Phe) c.5870C>T (p.Ser1957Phe) | |
12 | g.51807324C>A | CA480062403 | SCN8A | c.5838C>A (p.Ser1946=) c.5715C>A (p.Ser1905=) c.5871C>A (p.Ser1957=) | |
12 | g.51807324C= | CA2036195052 | SCN8A | c.5838C= (p.Ser1946=) c.5715C= (p.Ser1905=) c.5871C= (p.Ser1957=) | |
12 | g.51807324C>G | CA480062402 | SCN8A | c.5838C>G (p.Ser1946=) c.5715C>G (p.Ser1905=) c.5871C>G (p.Ser1957=) | |
12 | g.51807324C>T | CA6571962 | SCN8A | c.5838C>T (p.Ser1946=) c.5715C>T (p.Ser1905=) c.5871C>T (p.Ser1957=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807325T>A | CA384889811 | SCN8A | c.5839T>A (p.Tyr1947Asn) c.5716T>A (p.Tyr1906Asn) c.5872T>A (p.Tyr1958Asn) | |
12 | g.51807325T>C | CA384889814 | SCN8A | c.5839T>C (p.Tyr1947His) c.5716T>C (p.Tyr1906His) c.5872T>C (p.Tyr1958His) | |
12 | g.51807325T>G | CA384889822 | SCN8A | c.5839T>G (p.Tyr1947Asp) c.5716T>G (p.Tyr1906Asp) c.5872T>G (p.Tyr1958Asp) | gnomAD v4 |
12 | g.51807326A>C | CA384889837 | SCN8A | c.5840A>C (p.Tyr1947Ser) c.5717A>C (p.Tyr1906Ser) c.5873A>C (p.Tyr1958Ser) | |
12 | g.51807326A>G | CA384889830 | SCN8A | c.5840A>G (p.Tyr1947Cys) c.5717A>G (p.Tyr1906Cys) c.5873A>G (p.Tyr1958Cys) | ClinVar |
12 | g.51807326A>T | CA384889826 | SCN8A | c.5840A>T (p.Tyr1947Phe) c.5717A>T (p.Tyr1906Phe) c.5873A>T (p.Tyr1958Phe) | |
12 | g.51807327T>A | CA384889840 | SCN8A | c.5841T>A (p.Tyr1947Ter) c.5718T>A (p.Tyr1906Ter) c.5874T>A (p.Tyr1958Ter) | |
12 | g.51807327T>C | CA480062410 | SCN8A | c.5841T>C (p.Tyr1947=) c.5718T>C (p.Tyr1906=) c.5874T>C (p.Tyr1958=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807327T>G | CA384889841 | SCN8A | c.5841T>G (p.Tyr1947Ter) c.5718T>G (p.Tyr1906Ter) c.5874T>G (p.Tyr1958Ter) | |
12 | g.51807327T= | CA2036195062 | SCN8A | c.5841T= (p.Tyr1947=) c.5718T= (p.Tyr1906=) c.5874T= (p.Tyr1958=) | |
12 | g.51807328G>A | CA384889842 | SCN8A | c.5842G>A (p.Asp1948Asn) c.5719G>A (p.Asp1907Asn) c.5875G>A (p.Asp1959Asn) | |
12 | g.51807328G>C | CA384889843 | SCN8A | c.5842G>C (p.Asp1948His) c.5719G>C (p.Asp1907His) c.5875G>C (p.Asp1959His) | COSMIC COSMIC |
12 | g.51807328G>T | CA384889846 | SCN8A | c.5842G>T (p.Asp1948Tyr) c.5719G>T (p.Asp1907Tyr) c.5875G>T (p.Asp1959Tyr) | |
12 | g.51807329A>C | CA384889851 | SCN8A | c.5843A>C (p.Asp1948Ala) c.5720A>C (p.Asp1907Ala) c.5876A>C (p.Asp1959Ala) | gnomAD v4 |
12 | g.51807329A>G | CA384889856 | SCN8A | c.5843A>G (p.Asp1948Gly) c.5720A>G (p.Asp1907Gly) c.5876A>G (p.Asp1959Gly) | |
12 | g.51807329A>T | CA384889858 | SCN8A | c.5843A>T (p.Asp1948Val) c.5720A>T (p.Asp1907Val) c.5876A>T (p.Asp1959Val) | |
12 | g.51807330C>A | CA384889861 | SCN8A | c.5844C>A (p.Asp1948Glu) c.5721C>A (p.Asp1907Glu) c.5877C>A (p.Asp1959Glu) | |
12 | g.51807330C>G | CA384889864 | SCN8A | c.5844C>G (p.Asp1948Glu) c.5721C>G (p.Asp1907Glu) c.5877C>G (p.Asp1959Glu) | |
12 | g.51807330C>T | CA480062413 | SCN8A | c.5844C>T (p.Asp1948=) c.5721C>T (p.Asp1907=) c.5877C>T (p.Asp1959=) | gnomAD v4 |
12 | g.51807331A>C | CA384889869 | SCN8A | c.5845A>C (p.Ser1949Arg) c.5722A>C (p.Ser1908Arg) c.5878A>C (p.Ser1960Arg) | |
12 | g.51807331A>G | CA384889872 | SCN8A | c.5845A>G (p.Ser1949Gly) c.5722A>G (p.Ser1908Gly) c.5878A>G (p.Ser1960Gly) | |
12 | g.51807331A>T | CA384889876 | SCN8A | c.5845A>T (p.Ser1949Cys) c.5722A>T (p.Ser1908Cys) c.5878A>T (p.Ser1960Cys) | |
12 | g.51807332G>A | CA384889887 | SCN8A | c.5846G>A (p.Ser1949Asn) c.5723G>A (p.Ser1908Asn) c.5879G>A (p.Ser1960Asn) | dbSNP gnomAD v2 |
12 | g.51807332G>C | CA384889877 | SCN8A | c.5846G>C (p.Ser1949Thr) c.5723G>C (p.Ser1908Thr) c.5879G>C (p.Ser1960Thr) | |
12 | g.51807332G= | CA2036195065 | SCN8A | c.5846G= (p.Ser1949=) c.5723G= (p.Ser1908=) c.5879G= (p.Ser1960=) | |
12 | g.51807332G>T | CA384889878 | SCN8A | c.5846G>T (p.Ser1949Ile) c.5723G>T (p.Ser1908Ile) c.5879G>T (p.Ser1960Ile) | |
12 | g.51807333T>A | CA384889892 | SCN8A | c.5847T>A (p.Ser1949Arg) c.5724T>A (p.Ser1908Arg) c.5880T>A (p.Ser1960Arg) | |
12 | g.51807333T>C | CA6571963 | SCN8A | c.5847T>C (p.Ser1949=) c.5724T>C (p.Ser1908=) c.5880T>C (p.Ser1960=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807333T>G | CA384889895 | SCN8A | c.5847T>G (p.Ser1949Arg) c.5724T>G (p.Ser1908Arg) c.5880T>G (p.Ser1960Arg) | |
12 | g.51807333T= | CA2036195071 | SCN8A | c.5847T= (p.Ser1949=) c.5724T= (p.Ser1908=) c.5880T= (p.Ser1960=) | |
12 | g.51807334G>A | CA384889896 | SCN8A | c.5848G>A (p.Val1950Ile) c.5725G>A (p.Val1909Ile) c.5881G>A (p.Val1961Ile) | ClinVar gnomAD v4 |
12 | g.51807334G>C | CA384889897 | SCN8A | c.5848G>C (p.Val1950Leu) c.5725G>C (p.Val1909Leu) c.5881G>C (p.Val1961Leu) | |
12 | g.51807334G>T | CA384889899 | SCN8A | c.5848G>T (p.Val1950Leu) c.5725G>T (p.Val1909Leu) c.5881G>T (p.Val1961Leu) | |
12 | g.51807335T>A | CA384889903 | SCN8A | c.5849T>A (p.Val1950Glu) c.5726T>A (p.Val1909Glu) c.5882T>A (p.Val1961Glu) | |
12 | g.51807335T>C | CA384889907 | SCN8A | c.5849T>C (p.Val1950Ala) c.5726T>C (p.Val1909Ala) c.5882T>C (p.Val1961Ala) | |
12 | g.51807335T>G | CA384889910 | SCN8A | c.5849T>G (p.Val1950Gly) c.5726T>G (p.Val1909Gly) c.5882T>G (p.Val1961Gly) | |
12 | g.51807336A= | CA2036195078 | SCN8A | c.5850A= (p.Val1950=) c.5727A= (p.Val1909=) c.5883A= (p.Val1961=) | |
12 | g.51807336A>C | CA480062427 | SCN8A | c.5850A>C (p.Val1950=) c.5727A>C (p.Val1909=) c.5883A>C (p.Val1961=) | |
12 | g.51807336A>G | CA480062430 | SCN8A | c.5850A>G (p.Val1950=) c.5727A>G (p.Val1909=) c.5883A>G (p.Val1961=) | dbSNP gnomAD v2 |
12 | g.51807336A>T | CA480062429 | SCN8A | c.5850A>T (p.Val1950=) c.5727A>T (p.Val1909=) c.5883A>T (p.Val1961=) | |
12 | g.51807337A>C | CA384889924 | SCN8A | c.5851A>C (p.Thr1951Pro) c.5728A>C (p.Thr1910Pro) c.5884A>C (p.Thr1962Pro) | |
12 | g.51807337A>G | CA384889925 | SCN8A | c.5851A>G (p.Thr1951Ala) c.5728A>G (p.Thr1910Ala) c.5884A>G (p.Thr1962Ala) | |
12 | g.51807337A>T | CA384889926 | SCN8A | c.5851A>T (p.Thr1951Ser) c.5728A>T (p.Thr1910Ser) c.5884A>T (p.Thr1962Ser) | |
12 | g.51807338C>A | CA384889929 | SCN8A | c.5852C>A (p.Thr1951Asn) c.5729C>A (p.Thr1910Asn) c.5885C>A (p.Thr1962Asn) | |
12 | g.51807338C>G | CA384889934 | SCN8A | c.5852C>G (p.Thr1951Ser) c.5729C>G (p.Thr1910Ser) c.5885C>G (p.Thr1962Ser) | ClinVar dbSNP |
12 | g.51807338C>T | CA384889931 | SCN8A | c.5852C>T (p.Thr1951Ile) c.5729C>T (p.Thr1910Ile) c.5885C>T (p.Thr1962Ile) | |
12 | g.51807339T>A | CA480062439 | SCN8A | c.5853T>A (p.Thr1951=) c.5730T>A (p.Thr1910=) c.5886T>A (p.Thr1962=) | |
12 | g.51807339T>C | CA480062441 | SCN8A | c.5853T>C (p.Thr1951=) c.5730T>C (p.Thr1910=) c.5886T>C (p.Thr1962=) | |
12 | g.51807339T>G | CA480062443 | SCN8A | c.5853T>G (p.Thr1951=) c.5730T>G (p.Thr1910=) c.5886T>G (p.Thr1962=) | |
12 | g.51807340A= | CA2036195082 | SCN8A | c.5854A= (p.Lys1952=) c.5731A= (p.Lys1911=) c.5887A= (p.Lys1963=) | |
12 | g.51807340A>C | CA384889938 | SCN8A | c.5854A>C (p.Lys1952Gln) c.5731A>C (p.Lys1911Gln) c.5887A>C (p.Lys1963Gln) | |
12 | g.51807340A>G | CA384889946 | SCN8A | c.5854A>G (p.Lys1952Glu) c.5731A>G (p.Lys1911Glu) c.5887A>G (p.Lys1963Glu) | |
12 | g.51807340A>T | CA384889942 | SCN8A | c.5854A>T (p.Lys1952Ter) c.5731A>T (p.Lys1911Ter) c.5887A>T (p.Lys1963Ter) | dbSNP |
12 | g.51807341A>C | CA384889963 | SCN8A | c.5855A>C (p.Lys1952Thr) c.5732A>C (p.Lys1911Thr) c.5888A>C (p.Lys1963Thr) | |
12 | g.51807341A>G | CA384889965 | SCN8A | c.5855A>G (p.Lys1952Arg) c.5732A>G (p.Lys1911Arg) c.5888A>G (p.Lys1963Arg) | |
12 | g.51807341A>T | CA384889966 | SCN8A | c.5855A>T (p.Lys1952Ile) c.5732A>T (p.Lys1911Ile) c.5888A>T (p.Lys1963Ile) | |
12 | g.51807342A>C | CA384889969 | SCN8A | c.5856A>C (p.Lys1952Asn) c.5733A>C (p.Lys1911Asn) c.5889A>C (p.Lys1963Asn) | |
12 | g.51807342A>G | CA480062450 | SCN8A | c.5856A>G (p.Lys1952=) c.5733A>G (p.Lys1911=) c.5889A>G (p.Lys1963=) | gnomAD v4 |
12 | g.51807342A>T | CA384889971 | SCN8A | c.5856A>T (p.Lys1952Asn) c.5733A>T (p.Lys1911Asn) c.5889A>T (p.Lys1963Asn) | |
12 | g.51807343C>A | CA384889974 | SCN8A | c.5857C>A (p.Pro1953Thr) c.5734C>A (p.Pro1912Thr) c.5890C>A (p.Pro1964Thr) | |
12 | g.51807343C>G | CA384889975 | SCN8A | c.5857C>G (p.Pro1953Ala) c.5734C>G (p.Pro1912Ala) c.5890C>G (p.Pro1964Ala) | |
12 | g.51807343C>T | CA384889976 | SCN8A | c.5857C>T (p.Pro1953Ser) c.5734C>T (p.Pro1912Ser) c.5890C>T (p.Pro1964Ser) | |
12 | g.51807344C>A | CA384889977 | SCN8A | c.5858C>A (p.Pro1953His) c.5735C>A (p.Pro1912His) c.5891C>A (p.Pro1964His) | |
12 | g.51807344C>G | CA384889979 | SCN8A | c.5858C>G (p.Pro1953Arg) c.5735C>G (p.Pro1912Arg) c.5891C>G (p.Pro1964Arg) | |
12 | g.51807344C>T | CA384889982 | SCN8A | c.5858C>T (p.Pro1953Leu) c.5735C>T (p.Pro1912Leu) c.5891C>T (p.Pro1964Leu) | gnomAD v4 COSMIC COSMIC |
12 | g.51807345T>A | CA480062459 | SCN8A | c.5859T>A (p.Pro1953=) c.5736T>A (p.Pro1912=) c.5892T>A (p.Pro1964=) | |
12 | g.51807345T>C | CA480062461 | SCN8A | c.5859T>C (p.Pro1953=) c.5736T>C (p.Pro1912=) c.5892T>C (p.Pro1964=) | |
12 | g.51807345T>G | CA480062456 | SCN8A | c.5859T>G (p.Pro1953=) c.5736T>G (p.Pro1912=) c.5892T>G (p.Pro1964=) | gnomAD v4 |
12 | g.51807346G>A | CA384889994 | SCN8A | c.5860G>A (p.Glu1954Lys) c.5737G>A (p.Glu1913Lys) c.5893G>A (p.Glu1965Lys) | |
12 | g.51807346G>C | CA384889985 | SCN8A | c.5860G>C (p.Glu1954Gln) c.5737G>C (p.Glu1913Gln) c.5893G>C (p.Glu1965Gln) | |
12 | g.51807346G= | CA2036195086 | SCN8A | c.5860G= (p.Glu1954=) c.5737G= (p.Glu1913=) c.5893G= (p.Glu1965=) | |
12 | g.51807346G>T | CA384889991 | SCN8A | c.5860G>T (p.Glu1954Ter) c.5737G>T (p.Glu1913Ter) c.5893G>T (p.Glu1965Ter) | dbSNP |
12 | g.51807346_51807347delinsGA | CA2036195093 | SCN8A | c.5860_5861delinsGA (p.Glu1954=) c.5737_5738delinsGA (p.Glu1913=) c.5893_5894delinsGA (p.Glu1965=) | |
12 | g.51807347A>C | CA384890002 | SCN8A | c.5861A>C (p.Glu1954Ala) c.5738A>C (p.Glu1913Ala) c.5894A>C (p.Glu1965Ala) | |
12 | g.51807347A>G | CA384890005 | SCN8A | c.5861A>G (p.Glu1954Gly) c.5738A>G (p.Glu1913Gly) c.5894A>G (p.Glu1965Gly) | |
12 | g.51807347A>T | CA384890013 | SCN8A | c.5861A>T (p.Glu1954Val) c.5738A>T (p.Glu1913Val) c.5894A>T (p.Glu1965Val) | |
12 | g.51807350del | CA689783879 | SCN8A | c.5864del (p.Lys1955ArgfsTer?) c.5741del (p.Lys1914ArgfsTer?) c.5897del (p.Lys1966ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807348A>C | CA384890016 | SCN8A | c.5862A>C (p.Glu1954Asp) c.5739A>C (p.Glu1913Asp) c.5895A>C (p.Glu1965Asp) | |
12 | g.51807348A>G | CA480062469 | SCN8A | c.5862A>G (p.Glu1954=) c.5739A>G (p.Glu1913=) c.5895A>G (p.Glu1965=) | |
12 | g.51807348A>T | CA384890019 | SCN8A | c.5862A>T (p.Glu1954Asp) c.5739A>T (p.Glu1913Asp) c.5895A>T (p.Glu1965Asp) | |
12 | g.51807349A= | CA2036195099 | SCN8A | c.5863A= (p.Lys1955=) c.5740A= (p.Lys1914=) c.5896A= (p.Lys1966=) | |
12 | g.51807349A>C | CA384890023 | SCN8A | c.5863A>C (p.Lys1955Gln) c.5740A>C (p.Lys1914Gln) c.5896A>C (p.Lys1966Gln) | |
12 | g.51807349A>G | CA384890025 | SCN8A | c.5863A>G (p.Lys1955Glu) c.5740A>G (p.Lys1914Glu) c.5896A>G (p.Lys1966Glu) | gnomAD v4 |
12 | g.51807349A>T | CA384890027 | SCN8A | c.5863A>T (p.Lys1955Ter) c.5740A>T (p.Lys1914Ter) c.5896A>T (p.Lys1966Ter) | dbSNP |
12 | g.51807350A= | CA2036195100 | SCN8A | c.5864A= (p.Lys1955=) c.5741A= (p.Lys1914=) c.5897A= (p.Lys1966=) | |
12 | g.51807350A>C | CA384890029 | SCN8A | c.5864A>C (p.Lys1955Thr) c.5741A>C (p.Lys1914Thr) c.5897A>C (p.Lys1966Thr) | |
12 | g.51807350A>G | CA384890031 | SCN8A | c.5864A>G (p.Lys1955Arg) c.5741A>G (p.Lys1914Arg) c.5897A>G (p.Lys1966Arg) | |
12 | g.51807350A>T | CA384890035 | SCN8A | c.5864A>T (p.Lys1955Met) c.5741A>T (p.Lys1914Met) c.5897A>T (p.Lys1966Met) | dbSNP |
12 | g.51807351G>A | CA480062478 | SCN8A | c.5865G>A (p.Lys1955=) c.5742G>A (p.Lys1914=) c.5898G>A (p.Lys1966=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807351G>C | CA384890040 | SCN8A | c.5865G>C (p.Lys1955Asn) c.5742G>C (p.Lys1914Asn) c.5898G>C (p.Lys1966Asn) | |
12 | g.51807351G= | CA2036195103 | SCN8A | c.5865G= (p.Lys1955=) c.5742G= (p.Lys1914=) c.5898G= (p.Lys1966=) | |
12 | g.51807351G>T | CA384890038 | SCN8A | c.5865G>T (p.Lys1955Asn) c.5742G>T (p.Lys1914Asn) c.5898G>T (p.Lys1966Asn) | COSMIC |
12 | g.51807352G>A | CA384890044 | SCN8A | c.5866G>A (p.Glu1956Lys) c.5743G>A (p.Glu1915Lys) c.5899G>A (p.Glu1967Lys) | gnomAD v4 |
12 | g.51807352G>C | CA384890052 | SCN8A | c.5866G>C (p.Glu1956Gln) c.5743G>C (p.Glu1915Gln) c.5899G>C (p.Glu1967Gln) | |
12 | g.51807352G= | CA2036195105 | SCN8A | c.5866G= (p.Glu1956=) c.5743G= (p.Glu1915=) c.5899G= (p.Glu1967=) | |
12 | g.51807352G>T | CA384890055 | SCN8A | c.5866G>T (p.Glu1956Ter) c.5743G>T (p.Glu1915Ter) c.5899G>T (p.Glu1967Ter) | dbSNP |
12 | g.51807353A>C | CA384890068 | SCN8A | c.5867A>C (p.Glu1956Ala) c.5744A>C (p.Glu1915Ala) c.5900A>C (p.Glu1967Ala) | |
12 | g.51807353A>G | CA384890069 | SCN8A | c.5867A>G (p.Glu1956Gly) c.5744A>G (p.Glu1915Gly) c.5900A>G (p.Glu1967Gly) | |
12 | g.51807353A>T | CA384890072 | SCN8A | c.5867A>T (p.Glu1956Val) c.5744A>T (p.Glu1915Val) c.5900A>T (p.Glu1967Val) | |
12 | g.51807354G>A | CA480062485 | SCN8A | c.5868G>A (p.Glu1956=) c.5745G>A (p.Glu1915=) c.5901G>A (p.Glu1967=) | |
12 | g.51807354G>C | CA384890077 | SCN8A | c.5868G>C (p.Glu1956Asp) c.5745G>C (p.Glu1915Asp) c.5901G>C (p.Glu1967Asp) | |
12 | g.51807354G>T | CA384890081 | SCN8A | c.5868G>T (p.Glu1956Asp) c.5745G>T (p.Glu1915Asp) c.5901G>T (p.Glu1967Asp) | |
12 | g.51807355A= | CA2036195109 | SCN8A | c.5869A= (p.Lys1957=) c.5746A= (p.Lys1916=) c.5902A= (p.Lys1968=) | |
12 | g.51807355A>C | CA384890086 | SCN8A | c.5869A>C (p.Lys1957Gln) c.5746A>C (p.Lys1916Gln) c.5902A>C (p.Lys1968Gln) | dbSNP gnomAD v4 |
12 | g.51807355A>G | CA384890089 | SCN8A | c.5869A>G (p.Lys1957Glu) c.5746A>G (p.Lys1916Glu) c.5902A>G (p.Lys1968Glu) | |
12 | g.51807355A>T | CA384890092 | SCN8A | c.5869A>T (p.Lys1957Ter) c.5746A>T (p.Lys1916Ter) c.5902A>T (p.Lys1968Ter) | dbSNP |
12 | g.51807355_51807356insC | CA236327948 | SCN8A | c.5869_5870insC (p.Lys1957ThrfsTer?) c.5746_5747insC (p.Lys1916ThrfsTer?) c.5902_5903insC (p.Lys1968ThrfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807356A>C | CA384890108 | SCN8A | c.5870A>C (p.Lys1957Thr) c.5747A>C (p.Lys1916Thr) c.5903A>C (p.Lys1968Thr) | |
12 | g.51807356A>G | CA384890103 | SCN8A | c.5870A>G (p.Lys1957Arg) c.5747A>G (p.Lys1916Arg) c.5903A>G (p.Lys1968Arg) | |
12 | g.51807356A>T | CA384890101 | SCN8A | c.5870A>T (p.Lys1957Ile) c.5747A>T (p.Lys1916Ile) c.5903A>T (p.Lys1968Ile) | |
12 | g.51807357A>C | CA384890135 | SCN8A | c.5871A>C (p.Lys1957Asn) c.5748A>C (p.Lys1916Asn) c.5904A>C (p.Lys1968Asn) | |
12 | g.51807357A>G | CA480062490 | SCN8A | c.5871A>G (p.Lys1957=) c.5748A>G (p.Lys1916=) c.5904A>G (p.Lys1968=) | |
12 | g.51807357A>T | CA384890138 | SCN8A | c.5871A>T (p.Lys1957Asn) c.5748A>T (p.Lys1916Asn) c.5904A>T (p.Lys1968Asn) | |
12 | g.51807358C>A | CA384890141 | SCN8A | c.5872C>A (p.Gln1958Lys) c.5749C>A (p.Gln1917Lys) c.5905C>A (p.Gln1969Lys) | |
12 | g.51807358C= | CA2036195125 | SCN8A | c.5872C= (p.Gln1958=) c.5749C= (p.Gln1917=) c.5905C= (p.Gln1969=) | |
12 | g.51807358C>G | CA384890143 | SCN8A | c.5872C>G (p.Gln1958Glu) c.5749C>G (p.Gln1917Glu) c.5905C>G (p.Gln1969Glu) | |
12 | g.51807358C>T | CA384890145 | SCN8A | c.5872C>T (p.Gln1958Ter) c.5749C>T (p.Gln1917Ter) c.5905C>T (p.Gln1969Ter) | ClinVar dbSNP gnomAD v4 |
12 | g.51807362_51807364del | CA2618842391 | SCN8A | c.5876_5878del (p.Gln1959del) c.5753_5755del (p.Gln1918del) c.5909_5911del (p.Gln1970del) | gnomAD v4 |
12 | g.51807359A>C | CA384890154 | SCN8A | c.5873A>C (p.Gln1958Pro) c.5750A>C (p.Gln1917Pro) c.5906A>C (p.Gln1969Pro) | |
12 | g.51807359A>G | CA384890149 | SCN8A | c.5873A>G (p.Gln1958Arg) c.5750A>G (p.Gln1917Arg) c.5906A>G (p.Gln1969Arg) | |
12 | g.51807359A>T | CA384890152 | SCN8A | c.5873A>T (p.Gln1958Leu) c.5750A>T (p.Gln1917Leu) c.5906A>T (p.Gln1969Leu) | |
12 | g.51807360G>A | CA480062493 | SCN8A | c.5874G>A (p.Gln1958=) c.5751G>A (p.Gln1917=) c.5907G>A (p.Gln1969=) | dbSNP |
12 | g.51807360G>C | CA384890159 | SCN8A | c.5874G>C (p.Gln1958His) c.5751G>C (p.Gln1917His) c.5907G>C (p.Gln1969His) | |
12 | g.51807360G>T | CA384890162 | SCN8A | c.5874G>T (p.Gln1958His) c.5751G>T (p.Gln1917His) c.5907G>T (p.Gln1969His) | |
12 | g.51807361C>A | CA384890164 | SCN8A | c.5875C>A (p.Gln1959Lys) c.5752C>A (p.Gln1918Lys) c.5908C>A (p.Gln1970Lys) | |
12 | g.51807361C>G | CA384890166 | SCN8A | c.5875C>G (p.Gln1959Glu) c.5752C>G (p.Gln1918Glu) c.5908C>G (p.Gln1970Glu) | |
12 | g.51807361C>T | CA384890168 | SCN8A | c.5875C>T (p.Gln1959Ter) c.5752C>T (p.Gln1918Ter) c.5908C>T (p.Gln1970Ter) | |
12 | g.51807362A>C | CA384890183 | SCN8A | c.5876A>C (p.Gln1959Pro) c.5753A>C (p.Gln1918Pro) c.5909A>C (p.Gln1970Pro) | |
12 | g.51807362A>G | CA384890181 | SCN8A | c.5876A>G (p.Gln1959Arg) c.5753A>G (p.Gln1918Arg) c.5909A>G (p.Gln1970Arg) | |
12 | g.51807362A>T | CA384890172 | SCN8A | c.5876A>T (p.Gln1959Leu) c.5753A>T (p.Gln1918Leu) c.5909A>T (p.Gln1970Leu) | |
12 | g.51807363G>A | CA480062501 | SCN8A | c.5877G>A (p.Gln1959=) c.5754G>A (p.Gln1918=) c.5910G>A (p.Gln1970=) | |
12 | g.51807363G>C | CA384890205 | SCN8A | c.5877G>C (p.Gln1959His) c.5754G>C (p.Gln1918His) c.5910G>C (p.Gln1970His) | |
12 | g.51807363G>T | CA384890208 | SCN8A | c.5877G>T (p.Gln1959His) c.5754G>T (p.Gln1918His) c.5910G>T (p.Gln1970His) | |
12 | g.51807364C>A | CA480062505 | SCN8A | c.5878C>A (p.Arg1960=) c.5755C>A (p.Arg1919=) c.5911C>A (p.Arg1971=) | gnomAD v4 |
12 | g.51807364C= | CA2036195129 | SCN8A | c.5878C= (p.Arg1960=) c.5755C= (p.Arg1919=) c.5911C= (p.Arg1971=) | |
12 | g.51807364C>G | CA384890214 | SCN8A | c.5878C>G (p.Arg1960Gly) c.5755C>G (p.Arg1919Gly) c.5911C>G (p.Arg1971Gly) | |
12 | g.51807364C>T | CA236327953 | SCN8A | c.5878C>T (p.Arg1960Trp) c.5755C>T (p.Arg1919Trp) c.5911C>T (p.Arg1971Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807365G>A | CA318309 | SCN8A | c.5879G>A (p.Arg1960Gln) c.5756G>A (p.Arg1919Gln) c.5912G>A (p.Arg1971Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807365G>C | CA384890218 | SCN8A | c.5879G>C (p.Arg1960Pro) c.5756G>C (p.Arg1919Pro) c.5912G>C (p.Arg1971Pro) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51807365G= | CA2036195134 | SCN8A | c.5879G= (p.Arg1960=) c.5756G= (p.Arg1919=) c.5912G= (p.Arg1971=) | |
12 | g.51807365G>T | CA6571964 | SCN8A | c.5879G>T (p.Arg1960Leu) c.5756G>T (p.Arg1919Leu) c.5912G>T (p.Arg1971Leu) | ClinVar dbSNP ExAC gnomAD v4 |
12 | g.51807366G>A | CA480062508 | SCN8A | c.5880G>A (p.Arg1960=) c.5757G>A (p.Arg1919=) c.5913G>A (p.Arg1971=) | |
12 | g.51807366G>C | CA480062509 | SCN8A | c.5880G>C (p.Arg1960=) c.5757G>C (p.Arg1919=) c.5913G>C (p.Arg1971=) | |
12 | g.51807366G>T | CA480062510 | SCN8A | c.5880G>T (p.Arg1960=) c.5757G>T (p.Arg1919=) c.5913G>T (p.Arg1971=) | |
12 | g.51807367G>A | CA384890219 | SCN8A | c.5881G>A (p.Ala1961Thr) c.5758G>A (p.Ala1920Thr) c.5914G>A (p.Ala1972Thr) | |
12 | g.51807367G>C | CA384890223 | SCN8A | c.5881G>C (p.Ala1961Pro) c.5758G>C (p.Ala1920Pro) c.5914G>C (p.Ala1972Pro) | |
12 | g.51807367G= | CA2036195146 | SCN8A | c.5881G= (p.Ala1961=) c.5758G= (p.Ala1920=) c.5914G= (p.Ala1972=) | |
12 | g.51807367G>T | CA384890225 | SCN8A | c.5881G>T (p.Ala1961Ser) c.5758G>T (p.Ala1920Ser) c.5914G>T (p.Ala1972Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807368C>A | CA384890228 | SCN8A | c.5882C>A (p.Ala1961Glu) c.5759C>A (p.Ala1920Glu) c.5915C>A (p.Ala1972Glu) | |
12 | g.51807368C>G | CA384890238 | SCN8A | c.5882C>G (p.Ala1961Gly) c.5759C>G (p.Ala1920Gly) c.5915C>G (p.Ala1972Gly) | |
12 | g.51807368C>T | CA384890244 | SCN8A | c.5882C>T (p.Ala1961Val) c.5759C>T (p.Ala1920Val) c.5915C>T (p.Ala1972Val) | gnomAD v4 COSMIC COSMIC |
12 | g.51807369A= | CA2036195157 | SCN8A | c.5883A= (p.Ala1961=) c.5760A= (p.Ala1920=) c.5916A= (p.Ala1972=) | |
12 | g.51807369A>C | CA480062512 | SCN8A | c.5883A>C (p.Ala1961=) c.5760A>C (p.Ala1920=) c.5916A>C (p.Ala1972=) | |
12 | g.51807369A>G | CA6571965 | SCN8A | c.5883A>G (p.Ala1961=) c.5760A>G (p.Ala1920=) c.5916A>G (p.Ala1972=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807369A>T | CA480062518 | SCN8A | c.5883A>T (p.Ala1961=) c.5760A>T (p.Ala1920=) c.5916A>T (p.Ala1972=) | |
12 | g.51807369_51807373delinsAGAGG | CA2036195155 | SCN8A | c.5883_5887delinsAGAGG (p.Ala1961=) c.5760_5764delinsAGAGG (p.Ala1920=) c.5916_5920delinsAGAGG (p.Ala1972=) | |
12 | g.51807370G>A | CA384890248 | SCN8A | c.5884G>A (p.Glu1962Lys) c.5761G>A (p.Glu1921Lys) c.5917G>A (p.Glu1973Lys) | |
12 | g.51807370G>C | CA384890251 | SCN8A | c.5884G>C (p.Glu1962Gln) c.5761G>C (p.Glu1921Gln) c.5917G>C (p.Glu1973Gln) | |
12 | g.51807370G= | CA2036195162 | SCN8A | c.5884G= (p.Glu1962=) c.5761G= (p.Glu1921=) c.5917G= (p.Glu1973=) | |
12 | g.51807370G>T | CA384890253 | SCN8A | c.5884G>T (p.Glu1962Ter) c.5761G>T (p.Glu1921Ter) c.5917G>T (p.Glu1973Ter) | dbSNP |
12 | g.51807370_51807373del | CA2036195164 | SCN8A | c.5884_5887del (p.Glu1962LysfsTer30) c.5761_5764del (p.Glu1921LysfsTer30) c.5761_5764del (p.Glu1921LysfsTer?) c.5917_5920del (p.Glu1973LysfsTer?) c.5884_5887del (p.Glu1962LysfsTer?) | dbSNP |
12 | g.51807370_51807374delinsGAGGA | CA2036195163 | SCN8A | c.5884_5888delinsGAGGA (p.Glu1962=) c.5761_5765delinsGAGGA (p.Glu1921=) c.5917_5921delinsGAGGA (p.Glu1973=) | |
12 | g.51807371A= | CA2036195179 | SCN8A | c.5885A= (p.Glu1962=) c.5762A= (p.Glu1921=) c.5918A= (p.Glu1973=) | |
12 | g.51807371A>C | CA384890254 | SCN8A | c.5885A>C (p.Glu1962Ala) c.5762A>C (p.Glu1921Ala) c.5918A>C (p.Glu1973Ala) | |
12 | g.51807371A>G | CA384890257 | SCN8A | c.5885A>G (p.Glu1962Gly) c.5762A>G (p.Glu1921Gly) c.5918A>G (p.Glu1973Gly) | gnomAD v4 |
12 | g.51807371A>T | CA384890255 | SCN8A | c.5885A>T (p.Glu1962Val) c.5762A>T (p.Glu1921Val) c.5918A>T (p.Glu1973Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807371_51807372delinsAG | CA2036195176 | SCN8A | c.5885_5886delinsAG (p.Glu1962=) c.5762_5763delinsAG (p.Glu1921=) c.5918_5919delinsAG (p.Glu1973=) | |
12 | g.51807377_51807380del | CA658797918 | SCN8A | c.5891_5894del (p.Gly1964GlufsTer28) c.5768_5771del (p.Gly1923GlufsTer28) c.5768_5771del (p.Gly1923GlufsTer?) c.5924_5927del (p.Gly1975GlufsTer?) c.5891_5894del (p.Gly1964GlufsTer?) | ClinVar dbSNP |
12 | g.51807372G>A | CA480062525 | SCN8A | c.5886G>A (p.Glu1962=) c.5763G>A (p.Glu1921=) c.5919G>A (p.Glu1973=) | |
12 | g.51807372G>C | CA384890259 | SCN8A | c.5886G>C (p.Glu1962Asp) c.5763G>C (p.Glu1921Asp) c.5919G>C (p.Glu1973Asp) | |
12 | g.51807372G>T | CA384890261 | SCN8A | c.5886G>T (p.Glu1962Asp) c.5763G>T (p.Glu1921Asp) c.5919G>T (p.Glu1973Asp) | |
12 | g.51807373del | CA689783942 | SCN8A | c.5887del (p.Glu1963LysfsTer30) c.5764del (p.Glu1922LysfsTer30) c.5764del (p.Glu1922LysfsTer?) c.5920del (p.Glu1974LysfsTer?) c.5887del (p.Glu1963LysfsTer?) | dbSNP |
12 | g.51807373G>A | CA16042906 | SCN8A | c.5887G>A (p.Glu1963Lys) c.5764G>A (p.Glu1922Lys) c.5920G>A (p.Glu1974Lys) | ClinVar dbSNP COSMIC COSMIC |
12 | g.51807373G>C | CA384890266 | SCN8A | c.5887G>C (p.Glu1963Gln) c.5764G>C (p.Glu1922Gln) c.5920G>C (p.Glu1974Gln) | |
12 | g.51807373G= | CA2036195189 | SCN8A | c.5887G= (p.Glu1963=) c.5764G= (p.Glu1922=) c.5920G= (p.Glu1974=) | |
12 | g.51807373G>T | CA384890269 | SCN8A | c.5887G>T (p.Glu1963Ter) c.5764G>T (p.Glu1922Ter) c.5920G>T (p.Glu1974Ter) | dbSNP |