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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51807385G>A | CA384890385 | SCN8A | c.5899G>A (p.Glu1967Lys) c.5776G>A (p.Glu1926Lys) c.5932G>A (p.Glu1978Lys) | |
| 12 | g.51807385G>C | CA384890400 | SCN8A | c.5899G>C (p.Glu1967Gln) c.5776G>C (p.Glu1926Gln) c.5932G>C (p.Glu1978Gln) | |
| 12 | g.51807385G= | CA2036195229 | SCN8A | c.5899G= (p.Glu1967=) c.5776G= (p.Glu1926=) c.5932G= (p.Glu1978=) | |
| 12 | g.51807385G>T | CA384890401 | SCN8A | c.5899G>T (p.Glu1967Ter) c.5776G>T (p.Glu1926Ter) c.5932G>T (p.Glu1978Ter) | dbSNP |
| 12 | g.51807386A>C | CA384890416 | SCN8A | c.5900A>C (p.Glu1967Ala) c.5777A>C (p.Glu1926Ala) c.5933A>C (p.Glu1978Ala) | |
| 12 | g.51807386A>G | CA384890413 | SCN8A | c.5900A>G (p.Glu1967Gly) c.5777A>G (p.Glu1926Gly) c.5933A>G (p.Glu1978Gly) | |
| 12 | g.51807386A>T | CA384890404 | SCN8A | c.5900A>T (p.Glu1967Val) c.5777A>T (p.Glu1926Val) c.5933A>T (p.Glu1978Val) | |
| 12 | g.51807387A>C | CA384890420 | SCN8A | c.5901A>C (p.Glu1967Asp) c.5778A>C (p.Glu1926Asp) c.5934A>C (p.Glu1978Asp) | |
| 12 | g.51807387A>G | CA480062559 | SCN8A | c.5901A>G (p.Glu1967=) c.5778A>G (p.Glu1926=) c.5934A>G (p.Glu1978=) | gnomAD v4 |
| 12 | g.51807387A>T | CA384890424 | SCN8A | c.5901A>T (p.Glu1967Asp) c.5778A>T (p.Glu1926Asp) c.5934A>T (p.Glu1978Asp) | |
| 12 | g.51807387_51807389delinsAAG | CA2036195231 | SCN8A | c.5901_5903delinsAAG (p.Glu1967=) c.5778_5780delinsAAG (p.Glu1926=) c.5934_5936delinsAAG (p.Glu1978=) | |
| 12 | g.51807388A= | CA2036195238 | SCN8A | c.5902A= (p.Arg1968=) c.5779A= (p.Arg1927=) c.5935A= (p.Arg1979=) | |
| 12 | g.51807388A>C | CA480062562 | SCN8A | c.5902A>C (p.Arg1968=) c.5779A>C (p.Arg1927=) c.5935A>C (p.Arg1979=) | |
| 12 | g.51807388A>G | CA384890427 | SCN8A | c.5902A>G (p.Arg1968Gly) c.5779A>G (p.Arg1927Gly) c.5935A>G (p.Arg1979Gly) | gnomAD v4 |
| 12 | g.51807388A>T | CA384890430 | SCN8A | c.5902A>T (p.Arg1968Ter) c.5779A>T (p.Arg1927Ter) c.5935A>T (p.Arg1979Ter) | dbSNP |
| 12 | g.51807390_51807391del | CA947652811 | SCN8A | c.5904_5905del (p.Arg1968SerfsTer29) c.5781_5782del (p.Arg1927SerfsTer29) c.5781_5782del (p.Arg1927SerfsTer?) c.5937_5938del (p.Arg1979SerfsTer?) c.5904_5905del (p.Arg1968SerfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51807389G>A | CA6571969 | SCN8A | c.5903G>A (p.Arg1968Lys) c.5780G>A (p.Arg1927Lys) c.5936G>A (p.Arg1979Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51807389G>C | CA384890437 | SCN8A | c.5903G>C (p.Arg1968Thr) c.5780G>C (p.Arg1927Thr) c.5936G>C (p.Arg1979Thr) | ClinVar |
| 12 | g.51807389G= | CA2036195246 | SCN8A | c.5903G= (p.Arg1968=) c.5780G= (p.Arg1927=) c.5936G= (p.Arg1979=) | |
| 12 | g.51807389G>T | CA384890439 | SCN8A | c.5903G>T (p.Arg1968Ile) c.5780G>T (p.Arg1927Ile) c.5936G>T (p.Arg1979Ile) | |
| 12 | g.51807390A>C | CA384890441 | SCN8A | c.5904A>C (p.Arg1968Ser) c.5781A>C (p.Arg1927Ser) c.5937A>C (p.Arg1979Ser) | |
| 12 | g.51807390A>G | CA480062567 | SCN8A | c.5904A>G (p.Arg1968=) c.5781A>G (p.Arg1927=) c.5937A>G (p.Arg1979=) | |
| 12 | g.51807390A>T | CA384890442 | SCN8A | c.5904A>T (p.Arg1968Ser) c.5781A>T (p.Arg1927Ser) c.5937A>T (p.Arg1979Ser) | |
| 12 | g.51807391G>A | CA384890443 | SCN8A | c.5905G>A (p.Ala1969Thr) c.5782G>A (p.Ala1928Thr) c.5938G>A (p.Ala1980Thr) | |
| 12 | g.51807391G>C | CA384890449 | SCN8A | c.5905G>C (p.Ala1969Pro) c.5782G>C (p.Ala1928Pro) c.5938G>C (p.Ala1980Pro) | dbSNP |
| 12 | g.51807391G= | CA2036195252 | SCN8A | c.5905G= (p.Ala1969=) c.5782G= (p.Ala1928=) c.5938G= (p.Ala1980=) | |
| 12 | g.51807391G>T | CA384890446 | SCN8A | c.5905G>T (p.Ala1969Ser) c.5782G>T (p.Ala1928Ser) c.5938G>T (p.Ala1980Ser) | |
| 12 | g.51807392C>A | CA384890466 | SCN8A | c.5906C>A (p.Ala1969Asp) c.5783C>A (p.Ala1928Asp) c.5939C>A (p.Ala1980Asp) | gnomAD v4 |
| 12 | g.51807392C>G | CA384890468 | SCN8A | c.5906C>G (p.Ala1969Gly) c.5783C>G (p.Ala1928Gly) c.5939C>G (p.Ala1980Gly) | |
| 12 | g.51807392C>T | CA384890472 | SCN8A | c.5906C>T (p.Ala1969Val) c.5783C>T (p.Ala1928Val) c.5939C>T (p.Ala1980Val) | gnomAD v4 |
| 12 | g.51807393C>A | CA480062571 | SCN8A | c.5907C>A (p.Ala1969=) c.5784C>A (p.Ala1928=) c.5940C>A (p.Ala1980=) | |
| 12 | g.51807393C>G | CA480062573 | SCN8A | c.5907C>G (p.Ala1969=) c.5784C>G (p.Ala1928=) c.5940C>G (p.Ala1980=) | |
| 12 | g.51807393C>T | CA480062575 | SCN8A | c.5907C>T (p.Ala1969=) c.5784C>T (p.Ala1928=) c.5940C>T (p.Ala1980=) | |
| 12 | g.51807394A= | CA2036195260 | SCN8A | c.5908A= (p.Lys1970=) c.5785A= (p.Lys1929=) c.5941A= (p.Lys1981=) | |
| 12 | g.51807394A>C | CA384890475 | SCN8A | c.5908A>C (p.Lys1970Gln) c.5785A>C (p.Lys1929Gln) c.5941A>C (p.Lys1981Gln) | gnomAD v4 |
| 12 | g.51807394A>G | CA384890478 | SCN8A | c.5908A>G (p.Lys1970Glu) c.5785A>G (p.Lys1929Glu) c.5941A>G (p.Lys1981Glu) | |
| 12 | g.51807394A>T | CA384890481 | SCN8A | c.5908A>T (p.Lys1970Ter) c.5785A>T (p.Lys1929Ter) c.5941A>T (p.Lys1981Ter) | dbSNP |
| 12 | g.51807395A>C | CA384890492 | SCN8A | c.5909A>C (p.Lys1970Thr) c.5786A>C (p.Lys1929Thr) c.5942A>C (p.Lys1981Thr) | |
| 12 | g.51807395A>G | CA384890498 | SCN8A | c.5909A>G (p.Lys1970Arg) c.5786A>G (p.Lys1929Arg) c.5942A>G (p.Lys1981Arg) | |
| 12 | g.51807395A>T | CA384890501 | SCN8A | c.5909A>T (p.Lys1970Ile) c.5786A>T (p.Lys1929Ile) c.5942A>T (p.Lys1981Ile) | |
| 12 | g.51807396A>C | CA384890504 | SCN8A | c.5910A>C (p.Lys1970Asn) c.5787A>C (p.Lys1929Asn) c.5943A>C (p.Lys1981Asn) | |
| 12 | g.51807396A>G | CA480062580 | SCN8A | c.5910A>G (p.Lys1970=) c.5787A>G (p.Lys1929=) c.5943A>G (p.Lys1981=) | |
| 12 | g.51807396A>T | CA384890506 | SCN8A | c.5910A>T (p.Lys1970Asn) c.5787A>T (p.Lys1929Asn) c.5943A>T (p.Lys1981Asn) | |
| 12 | g.51807396_51807397insCACACCCA | CA2795967146 | SCN8A | c.5910_5911insCACACCCA (p.Arg1971HisfsTer25) c.5787_5788insCACACCCA (p.Arg1930HisfsTer25) c.5787_5788insCACACCCA (p.Arg1930HisfsTer?) c.5943_5944insCACACCCA (p.Arg1982HisfsTer?) c.5910_5911insCACACCCA (p.Arg1971HisfsTer?) | |
| 12 | g.51807397A= | CA2036195263 | SCN8A | c.5911A= (p.Arg1971=) c.5788A= (p.Arg1930=) c.5944A= (p.Arg1982=) | |
| 12 | g.51807397A>C | CA480062581 | SCN8A | c.5911A>C (p.Arg1971=) c.5788A>C (p.Arg1930=) c.5944A>C (p.Arg1982=) | |
| 12 | g.51807397A>G | CA384890509 | SCN8A | c.5911A>G (p.Arg1971Gly) c.5788A>G (p.Arg1930Gly) c.5944A>G (p.Arg1982Gly) | ClinVar |
| 12 | g.51807397A>T | CA384890512 | SCN8A | c.5911A>T (p.Arg1971Ter) c.5788A>T (p.Arg1930Ter) c.5944A>T (p.Arg1982Ter) | dbSNP |
| 12 | g.51807398G>A | CA384890517 | SCN8A | c.5912G>A (p.Arg1971Lys) c.5789G>A (p.Arg1930Lys) c.5945G>A (p.Arg1982Lys) | |
| 12 | g.51807398G>C | CA384890526 | SCN8A | c.5912G>C (p.Arg1971Thr) c.5789G>C (p.Arg1930Thr) c.5945G>C (p.Arg1982Thr) | gnomAD v4 |
| 12 | g.51807398G>T | CA384890523 | SCN8A | c.5912G>T (p.Arg1971Ile) c.5789G>T (p.Arg1930Ile) c.5945G>T (p.Arg1982Ile) | |
| 12 | g.51807399A>C | CA384890530 | SCN8A | c.5913A>C (p.Arg1971Ser) c.5790A>C (p.Arg1930Ser) c.5946A>C (p.Arg1982Ser) | |
| 12 | g.51807399A>G | CA480062583 | SCN8A | c.5913A>G (p.Arg1971=) c.5790A>G (p.Arg1930=) c.5946A>G (p.Arg1982=) | |
| 12 | g.51807399A>T | CA384890534 | SCN8A | c.5913A>T (p.Arg1971Ser) c.5790A>T (p.Arg1930Ser) c.5946A>T (p.Arg1982Ser) | |
| 12 | g.51807400C>A | CA384890542 | SCN8A | c.5914C>A (p.Gln1972Lys) c.5791C>A (p.Gln1931Lys) c.5947C>A (p.Gln1983Lys) | |
| 12 | g.51807400C= | CA2036195264 | SCN8A | c.5914C= (p.Gln1972=) c.5791C= (p.Gln1931=) c.5947C= (p.Gln1983=) | |
| 12 | g.51807400C>G | CA384890544 | SCN8A | c.5914C>G (p.Gln1972Glu) c.5791C>G (p.Gln1931Glu) c.5947C>G (p.Gln1983Glu) | |
| 12 | g.51807400C>T | CA384890547 | SCN8A | c.5914C>T (p.Gln1972Ter) c.5791C>T (p.Gln1931Ter) c.5947C>T (p.Gln1983Ter) | dbSNP |
| 12 | g.51807401A>C | CA384890553 | SCN8A | c.5915A>C (p.Gln1972Pro) c.5792A>C (p.Gln1931Pro) c.5948A>C (p.Gln1983Pro) | |
| 12 | g.51807401A>G | CA384890555 | SCN8A | c.5915A>G (p.Gln1972Arg) c.5792A>G (p.Gln1931Arg) c.5948A>G (p.Gln1983Arg) | |
| 12 | g.51807401A>T | CA384890558 | SCN8A | c.5915A>T (p.Gln1972Leu) c.5792A>T (p.Gln1931Leu) c.5948A>T (p.Gln1983Leu) | |
| 12 | g.51807405dup | CA2795967147 | SCN8A | c.5919dup (p.Glu1974ArgfsTer24) c.5796dup (p.Glu1933ArgfsTer24) c.5796dup (p.Glu1933ArgfsTer?) c.5952dup (p.Glu1985ArgfsTer?) c.5919dup (p.Glu1974ArgfsTer?) | |
| 12 | g.51807404_51807405del | CA2575160524 | SCN8A | c.5918_5919del (p.Lys1973ArgfsTer24) c.5795_5796del (p.Lys1932ArgfsTer24) c.5795_5796del (p.Lys1932ArgfsTer?) c.5951_5952del (p.Lys1984ArgfsTer?) c.5918_5919del (p.Lys1973ArgfsTer?) | gnomAD v4 |
| 12 | g.51807402A>C | CA384890559 | SCN8A | c.5916A>C (p.Gln1972His) c.5793A>C (p.Gln1931His) c.5949A>C (p.Gln1983His) | |
| 12 | g.51807402A>G | CA480062587 | SCN8A | c.5916A>G (p.Gln1972=) c.5793A>G (p.Gln1931=) c.5949A>G (p.Gln1983=) | gnomAD v4 |
| 12 | g.51807402A>T | CA384890560 | SCN8A | c.5916A>T (p.Gln1972His) c.5793A>T (p.Gln1931His) c.5949A>T (p.Gln1983His) | |
| 12 | g.51807403A= | CA2036195266 | SCN8A | c.5917A= (p.Lys1973=) c.5794A= (p.Lys1932=) c.5950A= (p.Lys1984=) | |
| 12 | g.51807403A>C | CA384890567 | SCN8A | c.5917A>C (p.Lys1973Gln) c.5794A>C (p.Lys1932Gln) c.5950A>C (p.Lys1984Gln) | |
| 12 | g.51807403A>G | CA384890569 | SCN8A | c.5917A>G (p.Lys1973Glu) c.5794A>G (p.Lys1932Glu) c.5950A>G (p.Lys1984Glu) | |
| 12 | g.51807403A>T | CA384890561 | SCN8A | c.5917A>T (p.Lys1973Ter) c.5794A>T (p.Lys1932Ter) c.5950A>T (p.Lys1984Ter) | dbSNP |
| 12 | g.51807403_51807404insCAAAACCAAACACACCCAACAC | CA2795967148 | SCN8A | c.5917_5918insCAAAACCAAACACACCCAACAC (p.Lys1973ThrfsTer32) c.5794_5795insCAAAACCAAACACACCCAACAC (p.Lys1932ThrfsTer32) c.5794_5795insCAAAACCAAACACACCCAACAC (p.Lys1932ThrfsTer?) c.5950_5951insCAAAACCAAACACACCCAACAC (p.Lys1984ThrfsTer?) c.5917_5918insCAAAACCAAACACACCCAACAC (p.Lys1973ThrfsTer?) | |
| 12 | g.51807404A>C | CA384890574 | SCN8A | c.5918A>C (p.Lys1973Thr) c.5795A>C (p.Lys1932Thr) c.5951A>C (p.Lys1984Thr) | |
| 12 | g.51807404A>G | CA384890576 | SCN8A | c.5918A>G (p.Lys1973Arg) c.5795A>G (p.Lys1932Arg) c.5951A>G (p.Lys1984Arg) | |
| 12 | g.51807404A>T | CA384890578 | SCN8A | c.5918A>T (p.Lys1973Ile) c.5795A>T (p.Lys1932Ile) c.5951A>T (p.Lys1984Ile) | |
| 12 | g.51807405A>C | CA384890583 | SCN8A | c.5919A>C (p.Lys1973Asn) c.5796A>C (p.Lys1932Asn) c.5952A>C (p.Lys1984Asn) | |
| 12 | g.51807405A>G | CA480062591 | SCN8A | c.5919A>G (p.Lys1973=) c.5796A>G (p.Lys1932=) c.5952A>G (p.Lys1984=) | |
| 12 | g.51807405A>T | CA384890584 | SCN8A | c.5919A>T (p.Lys1973Asn) c.5796A>T (p.Lys1932Asn) c.5952A>T (p.Lys1984Asn) | |
| 12 | g.51807406G>A | CA384890585 | SCN8A | c.5920G>A (p.Glu1974Lys) c.5797G>A (p.Glu1933Lys) c.5953G>A (p.Glu1985Lys) | |
| 12 | g.51807406G>C | CA384890587 | SCN8A | c.5920G>C (p.Glu1974Gln) c.5797G>C (p.Glu1933Gln) c.5953G>C (p.Glu1985Gln) | |
| 12 | g.51807406G= | CA2036195269 | SCN8A | c.5920G= (p.Glu1974=) c.5797G= (p.Glu1933=) c.5953G= (p.Glu1985=) | |
| 12 | g.51807406G>T | CA384890590 | SCN8A | c.5920G>T (p.Glu1974Ter) c.5797G>T (p.Glu1933Ter) c.5953G>T (p.Glu1985Ter) | dbSNP |
| 12 | g.51807407A>C | CA384890596 | SCN8A | c.5921A>C (p.Glu1974Ala) c.5798A>C (p.Glu1933Ala) c.5954A>C (p.Glu1985Ala) | |
| 12 | g.51807407A>G | CA384890599 | SCN8A | c.5921A>G (p.Glu1974Gly) c.5798A>G (p.Glu1933Gly) c.5954A>G (p.Glu1985Gly) | |
| 12 | g.51807407A>T | CA384890601 | SCN8A | c.5921A>T (p.Glu1974Val) c.5798A>T (p.Glu1933Val) c.5954A>T (p.Glu1985Val) | |
| 12 | g.51807408G>A | CA480062596 | SCN8A | c.5922G>A (p.Glu1974=) c.5799G>A (p.Glu1933=) c.5955G>A (p.Glu1985=) | gnomAD v4 |
| 12 | g.51807408G>C | CA384890604 | SCN8A | c.5922G>C (p.Glu1974Asp) c.5799G>C (p.Glu1933Asp) c.5955G>C (p.Glu1985Asp) | |
| 12 | g.51807408G>T | CA384890606 | SCN8A | c.5922G>T (p.Glu1974Asp) c.5799G>T (p.Glu1933Asp) c.5955G>T (p.Glu1985Asp) | |
| 12 | g.51807409G>A | CA384890620 | SCN8A | c.5923G>A (p.Val1975Ile) c.5800G>A (p.Val1934Ile) c.5956G>A (p.Val1986Ile) | |
| 12 | g.51807409G>C | CA384890614 | SCN8A | c.5923G>C (p.Val1975Leu) c.5800G>C (p.Val1934Leu) c.5956G>C (p.Val1986Leu) | |
| 12 | g.51807409G>T | CA384890611 | SCN8A | c.5923G>T (p.Val1975Phe) c.5800G>T (p.Val1934Phe) c.5956G>T (p.Val1986Phe) | |
| 12 | g.51807410T>A | CA384890627 | SCN8A | c.5924T>A (p.Val1975Asp) c.5801T>A (p.Val1934Asp) c.5957T>A (p.Val1986Asp) | |
| 12 | g.51807410T>C | CA384890630 | SCN8A | c.5924T>C (p.Val1975Ala) c.5801T>C (p.Val1934Ala) c.5957T>C (p.Val1986Ala) | ClinVar dbSNP |
| 12 | g.51807410T>G | CA384890631 | SCN8A | c.5924T>G (p.Val1975Gly) c.5801T>G (p.Val1934Gly) c.5957T>G (p.Val1986Gly) | |
| 12 | g.51807410T= | CA2036195280 | SCN8A | c.5924T= (p.Val1975=) c.5801T= (p.Val1934=) c.5957T= (p.Val1986=) | |
| 12 | g.51807411C>A | CA480062598 | SCN8A | c.5925C>A (p.Val1975=) c.5802C>A (p.Val1934=) c.5958C>A (p.Val1986=) | gnomAD v4 |
| 12 | g.51807411C>G | CA480062599 | SCN8A | c.5925C>G (p.Val1975=) c.5802C>G (p.Val1934=) c.5958C>G (p.Val1986=) | |
| 12 | g.51807411C>T | CA480062600 | SCN8A | c.5925C>T (p.Val1975=) c.5802C>T (p.Val1934=) c.5958C>T (p.Val1986=) | |
| 12 | g.51807412A= | CA2036195287 | SCN8A | c.5926A= (p.Arg1976=) c.5803A= (p.Arg1935=) c.5959A= (p.Arg1987=) | |
| 12 | g.51807412A>C | CA480062602 | SCN8A | c.5926A>C (p.Arg1976=) c.5803A>C (p.Arg1935=) c.5959A>C (p.Arg1987=) | |
| 12 | g.51807412A>G | CA384890632 | SCN8A | c.5926A>G (p.Arg1976Gly) c.5803A>G (p.Arg1935Gly) c.5959A>G (p.Arg1987Gly) | |
| 12 | g.51807412A>T | CA384890634 | SCN8A | c.5926A>T (p.Arg1976Ter) c.5803A>T (p.Arg1935Ter) c.5959A>T (p.Arg1987Ter) | dbSNP |
| 12 | g.51807413G>A | CA384890636 | SCN8A | c.5927G>A (p.Arg1976Lys) c.5804G>A (p.Arg1935Lys) c.5960G>A (p.Arg1987Lys) | |
| 12 | g.51807413G>C | CA384890638 | SCN8A | c.5927G>C (p.Arg1976Thr) c.5804G>C (p.Arg1935Thr) c.5960G>C (p.Arg1987Thr) | |
| 12 | g.51807413G>T | CA384890642 | SCN8A | c.5927G>T (p.Arg1976Ile) c.5804G>T (p.Arg1935Ile) c.5960G>T (p.Arg1987Ile) | |
| 12 | g.51807414A>C | CA384890647 | SCN8A | c.5928A>C (p.Arg1976Ser) c.5805A>C (p.Arg1935Ser) c.5961A>C (p.Arg1987Ser) | |
| 12 | g.51807414A>G | CA480062604 | SCN8A | c.5928A>G (p.Arg1976=) c.5805A>G (p.Arg1935=) c.5961A>G (p.Arg1987=) | |
| 12 | g.51807414A>T | CA384890650 | SCN8A | c.5928A>T (p.Arg1976Ser) c.5805A>T (p.Arg1935Ser) c.5961A>T (p.Arg1987Ser) | |
| 12 | g.51807415G>A | CA384890655 | SCN8A | c.5929G>A (p.Glu1977Lys) c.5806G>A (p.Glu1936Lys) c.5962G>A (p.Glu1988Lys) | |
| 12 | g.51807415G>C | CA384890657 | SCN8A | c.5929G>C (p.Glu1977Gln) c.5806G>C (p.Glu1936Gln) c.5962G>C (p.Glu1988Gln) | |
| 12 | g.51807415G= | CA2036195294 | SCN8A | c.5929G= (p.Glu1977=) c.5806G= (p.Glu1936=) c.5962G= (p.Glu1988=) | |
| 12 | g.51807415G>T | CA384890666 | SCN8A | c.5929G>T (p.Glu1977Ter) c.5806G>T (p.Glu1936Ter) c.5962G>T (p.Glu1988Ter) | dbSNP gnomAD v4 |
| 12 | g.51807416A= | CA2036195300 | SCN8A | c.5930A= (p.Glu1977=) c.5807A= (p.Glu1936=) c.5963A= (p.Glu1988=) | |
| 12 | g.51807416A>C | CA384890672 | SCN8A | c.5930A>C (p.Glu1977Ala) c.5807A>C (p.Glu1936Ala) c.5963A>C (p.Glu1988Ala) | gnomAD v4 |
| 12 | g.51807416A>G | CA384890678 | SCN8A | c.5930A>G (p.Glu1977Gly) c.5807A>G (p.Glu1936Gly) c.5963A>G (p.Glu1988Gly) | dbSNP |
| 12 | g.51807416A>T | CA384890674 | SCN8A | c.5930A>T (p.Glu1977Val) c.5807A>T (p.Glu1936Val) c.5963A>T (p.Glu1988Val) | |
| 12 | g.51807417A>C | CA384890681 | SCN8A | c.5931A>C (p.Glu1977Asp) c.5808A>C (p.Glu1936Asp) c.5964A>C (p.Glu1988Asp) | |
| 12 | g.51807417A>G | CA480062610 | SCN8A | c.5931A>G (p.Glu1977=) c.5808A>G (p.Glu1936=) c.5964A>G (p.Glu1988=) | |
| 12 | g.51807417A>T | CA384890684 | SCN8A | c.5931A>T (p.Glu1977Asp) c.5808A>T (p.Glu1936Asp) c.5964A>T (p.Glu1988Asp) | |
| 12 | g.51807418T>A | CA384890690 | SCN8A | c.5932T>A (p.Ser1978Thr) c.5809T>A (p.Ser1937Thr) c.5965T>A (p.Ser1989Thr) | |
| 12 | g.51807418T>C | CA384890696 | SCN8A | c.5932T>C (p.Ser1978Pro) c.5809T>C (p.Ser1937Pro) c.5965T>C (p.Ser1989Pro) | |
| 12 | g.51807418T>G | CA384890693 | SCN8A | c.5932T>G (p.Ser1978Ala) c.5809T>G (p.Ser1937Ala) c.5965T>G (p.Ser1989Ala) | |
| 12 | g.51807419C>A | CA384890701 | SCN8A | c.5933C>A (p.Ser1978Tyr) c.5810C>A (p.Ser1937Tyr) c.5966C>A (p.Ser1989Tyr) | |
| 12 | g.51807419C= | CA2036195305 | SCN8A | c.5933C= (p.Ser1978=) c.5810C= (p.Ser1937=) c.5966C= (p.Ser1989=) | |
| 12 | g.51807419C>G | CA384890705 | SCN8A | c.5933C>G (p.Ser1978Cys) c.5810C>G (p.Ser1937Cys) c.5966C>G (p.Ser1989Cys) | |
| 12 | g.51807419C>T | CA384890711 | SCN8A | c.5933C>T (p.Ser1978Phe) c.5810C>T (p.Ser1937Phe) c.5966C>T (p.Ser1989Phe) | dbSNP gnomAD v2 |
| 12 | g.51807420C>A | CA480062611 | SCN8A | c.5934C>A (p.Ser1978=) c.5811C>A (p.Ser1937=) c.5967C>A (p.Ser1989=) | gnomAD v4 |
| 12 | g.51807420C>G | CA480062612 | SCN8A | c.5934C>G (p.Ser1978=) c.5811C>G (p.Ser1937=) c.5967C>G (p.Ser1989=) | |
| 12 | g.51807420C>T | CA480062613 | SCN8A | c.5934C>T (p.Ser1978=) c.5811C>T (p.Ser1937=) c.5967C>T (p.Ser1989=) | |
| 12 | g.51807421A>C | CA384890721 | SCN8A | c.5935A>C (p.Lys1979Gln) c.5812A>C (p.Lys1938Gln) c.5968A>C (p.Lys1990Gln) | |
| 12 | g.51807421A>G | CA384890725 | SCN8A | c.5935A>G (p.Lys1979Glu) c.5812A>G (p.Lys1938Glu) c.5968A>G (p.Lys1990Glu) | |
| 12 | g.51807421A>T | CA384890726 | SCN8A | c.5935A>T (p.Lys1979Ter) c.5812A>T (p.Lys1938Ter) c.5968A>T (p.Lys1990Ter) | |
| 12 | g.51807422A= | CA2036195308 | SCN8A | c.5936A= (p.Lys1979=) c.5813A= (p.Lys1938=) c.5969A= (p.Lys1990=) | |
| 12 | g.51807422A>C | CA384890735 | SCN8A | c.5936A>C (p.Lys1979Thr) c.5813A>C (p.Lys1938Thr) c.5969A>C (p.Lys1990Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51807422A>G | CA384890738 | SCN8A | c.5936A>G (p.Lys1979Arg) c.5813A>G (p.Lys1938Arg) c.5969A>G (p.Lys1990Arg) | |
| 12 | g.51807422A>T | CA384890740 | SCN8A | c.5936A>T (p.Lys1979Met) c.5813A>T (p.Lys1938Met) c.5969A>T (p.Lys1990Met) | |
| 12 | g.51807423G>A | CA480062614 | SCN8A | c.5937G>A (p.Lys1979=) c.5814G>A (p.Lys1938=) c.5970G>A (p.Lys1990=) | gnomAD v4 |
| 12 | g.51807423G>C | CA236328014 | SCN8A | c.5937G>C (p.Lys1979Asn) c.5814G>C (p.Lys1938Asn) c.5970G>C (p.Lys1990Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51807423G= | CA2036195312 | SCN8A | c.5937G= (p.Lys1979=) c.5814G= (p.Lys1938=) c.5970G= (p.Lys1990=) | |
| 12 | g.51807423G>T | CA384890742 | SCN8A | c.5937G>T (p.Lys1979Asn) c.5814G>T (p.Lys1938Asn) c.5970G>T (p.Lys1990Asn) | |
| 12 | g.51807424T>A | CA384890758 | SCN8A | c.5938T>A (p.Cys1980Ser) c.5815T>A (p.Cys1939Ser) c.5971T>A (p.Cys1991Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51807424T>C | CA384890757 | SCN8A | c.5938T>C (p.Cys1980Arg) c.5815T>C (p.Cys1939Arg) c.5971T>C (p.Cys1991Arg) | gnomAD v4 |
| 12 | g.51807424T>G | CA384890754 | SCN8A | c.5938T>G (p.Cys1980Gly) c.5815T>G (p.Cys1939Gly) c.5971T>G (p.Cys1991Gly) | |
| 12 | g.51807424T= | CA2036195319 | SCN8A | c.5938T= (p.Cys1980=) c.5815T= (p.Cys1939=) c.5971T= (p.Cys1991=) | |
| 12 | g.51807424_51807427dup | CA2573148742 | SCN8A | c.5938_5941dup (p.Ter1981LeuextTer18) c.5815_5818dup (p.Ter1940LeuextTer18) c.5815_5818dup (p.Ter1940LeuextTer?) c.5971_5974dup (p.Ter1992LeuextTer?) c.5938_5941dup (p.Ter1981LeuextTer?) | ClinVar dbSNP |
| 12 | g.51807425G>A | CA384890760 | SCN8A | c.5939G>A (p.Cys1980Tyr) c.5816G>A (p.Cys1939Tyr) c.5972G>A (p.Cys1991Tyr) | |
| 12 | g.51807425G>C | CA384890762 | SCN8A | c.5939G>C (p.Cys1980Ser) c.5816G>C (p.Cys1939Ser) c.5972G>C (p.Cys1991Ser) | |
| 12 | g.51807425G>T | CA384890766 | SCN8A | c.5939G>T (p.Cys1980Phe) c.5816G>T (p.Cys1939Phe) c.5972G>T (p.Cys1991Phe) | |
| 12 | g.51807426T>A | CA6571970 | SCN8A | c.5940T>A (p.Cys1980Ter) c.5817T>A (p.Cys1939Ter) c.5973T>A (p.Cys1991Ter) | dbSNP ExAC gnomAD v4 |
| 12 | g.51807426T>C | CA480062615 | SCN8A | c.5940T>C (p.Cys1980=) c.5817T>C (p.Cys1939=) c.5973T>C (p.Cys1991=) | |
| 12 | g.51807426T>G | CA384890775 | SCN8A | c.5940T>G (p.Cys1980Trp) c.5817T>G (p.Cys1939Trp) c.5973T>G (p.Cys1991Trp) | |
| 12 | g.51807426T= | CA2036195324 | SCN8A | c.5940T= (p.Cys1980=) c.5817T= (p.Cys1939=) c.5973T= (p.Cys1991=) | |
| 12 | g.51807427T>A | CA384890781 | SCN8A | c.5941T>A (p.Ter1981Lys) c.5818T>A (p.Ter1940Lys) c.5974T>A (p.Ter1992Lys) | |
| 12 | g.51807427T>C | CA384890784 | SCN8A | c.5941T>C (p.Ter1981Gln) c.5818T>C (p.Ter1940Gln) c.5974T>C (p.Ter1992Gln) | |
| 12 | g.51807427T>G | CA384890787 | SCN8A | c.5941T>G (p.Ter1981Glu) c.5818T>G (p.Ter1940Glu) c.5974T>G (p.Ter1992Glu) | |
| 12 | g.51807427_51807429delinsTAG | CA2036195329 | SCN8A | c.5941_5943delinsTAG (p.Ter1981=) c.5818_5820delinsTAG (p.Ter1940=) c.5974_5976delinsTAG (p.Ter1992=) | |
| 12 | g.51807428A>C | CA384890791 | SCN8A | c.5942A>C (p.Ter1981Ser) c.5819A>C (p.Ter1940Ser) c.5975A>C (p.Ter1992Ser) | |
| 12 | g.51807428A>G | CA384890794 | SCN8A | c.5942A>G (p.Ter1981Trp) c.5819A>G (p.Ter1940Trp) c.5975A>G (p.Ter1992Trp) | |
| 12 | g.51807428A>T | CA384890796 | SCN8A | c.5942A>T (p.Ter1981Leu) c.5819A>T (p.Ter1940Leu) c.5975A>T (p.Ter1992Leu) | |
| 12 | g.51807428_51807431delinsAGAG | CA2036195340 | SCN8A | c.5942_*2delinsAGAG (n.[c.5942_*2delinsAGAG;Ter1981=]) c.5819_*2delinsAGAG (n.[c.5819_*2delinsAGAG;Ter1940=]) | |
| 12 | g.51807430_51807431del | CA689784040 | SCN8A | c.*1_*2del (n.*1_*2del) | dbSNP |
| 12 | g.51807429G>A | CA480062616 | SCN8A | c.5943G>A (p.Ter1981=) c.5820G>A (p.Ter1940=) c.5976G>A (p.Ter1992=) | |
| 12 | g.51807429G>C | CA384890815 | SCN8A | c.5943G>C (p.Ter1981Tyr) c.5820G>C (p.Ter1940Tyr) c.5976G>C (p.Ter1992Tyr) | |
| 12 | g.51807429G>T | CA384890818 | SCN8A | c.5943G>T (p.Ter1981Tyr) c.5820G>T (p.Ter1940Tyr) c.5976G>T (p.Ter1992Tyr) | gnomAD v4 |
| 12 | g.51807432_51807434dup | CA236328020 | SCN8A | c.*3_*5dup (n.*3_*5dup) | dbSNP |
| 12 | g.51807432_51807434del | CA202091 | SCN8A | c.*3_*5del (n.*3_*5del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51807430A>G | CA2618842496 | SCN8A | c.*1A>G (n.*1A>G) | gnomAD v4 |
| 12 | g.51807431G>A | CA605238633 | SCN8A | c.*2G>A (n.*2G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51807431G= | CA2036195359 | SCN8A | c.*2G= (n.*2G=) | |
| 12 | g.51807434G>A | CA6571971 | SCN8A | c.*5G>A (n.*5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51807434G= | CA2036195368 | SCN8A | c.*5G= (n.*5G=) | |
| 12 | g.51807434G>T | CA2527186302 | SCN8A | c.*5G>T (n.*5G>T) | gnomAD v4 |
| 12 | g.51807435A= | CA2036195371 | SCN8A | c.*6A= (n.*6A=) | |
| 12 | g.51807435A>T | CA6571972 | SCN8A | c.*6A>T (n.*6A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51807437C>A | CA2618842520 | SCN8A | c.*8C>A (n.*8C>A) | gnomAD v4 |
| 12 | g.51807437C= | CA2036195383 | SCN8A | c.*8C= (n.*8C=) | |
| 12 | g.51807437C>G | CA605238634 | SCN8A | c.*8C>G (n.*8C>G) | dbSNP gnomAD v2 |
| 12 | g.51807437C>T | CA16606319 | SCN8A | c.*8C>T (n.*8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51807440A>T | CA2795967149 | SCN8A | c.*11A>T (n.*11A>T) | |
| 12 | g.51807442_51807443insCCAAACACACCCAACACA | CA2795967151 | SCN8A | c.*13_*14insCCAAACACACCCAACACA (n.*13_*14insCCAAACACACCCAACACA) | |
| 12 | g.51807442_51807443insACCAAACACACCCAACACA | CA2795967150 | SCN8A | c.*13_*14insACCAAACACACCCAACACA (n.*13_*14insACCAAACACACCCAACACA) | |
| 12 | g.51807443T>A | CA2618842524 | SCN8A | c.*14T>A (n.*14T>A) | gnomAD v4 |
| 12 | g.51807443_51807444insACCAAACACACCCAAC | CA2795967153 | SCN8A | c.*14_*15insACCAAACACACCCAAC (n.*14_*15insACCAAACACACCCAAC) | |
| 12 | g.51807443_51807444insAACCAAACACACCCAAC | CA2795967152 | SCN8A | c.*14_*15insAACCAAACACACCCAAC (n.*14_*15insAACCAAACACACCCAAC) | |
| 12 | g.51807444T>A | CA947652820 | SCN8A | c.*15T>A (n.*15T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51807444T= | CA2036195389 | SCN8A | c.*15T= (n.*15T=) | |
| 12 | g.51807445C= | CA2036195396 | SCN8A | c.*16C= (n.*16C=) | |
| 12 | g.51807445C>T | CA6571973 | SCN8A | c.*16C>T (n.*16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51807446A>C | CA2618842528 | SCN8A | c.*17A>C (n.*17A>C) | gnomAD v4 |
| 12 | g.51807446A>G | CA2618842531 | SCN8A | c.*17A>G (n.*17A>G) | gnomAD v4 |
| 12 | g.51807447G>A | CA605238635 | SCN8A | c.*18G>A (n.*18G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51807447G= | CA2036195406 | SCN8A | c.*18G= (n.*18G=) | |
| 12 | g.51807447G>T | CA6571974 | SCN8A | c.*18G>T (n.*18G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51807448T>C | CA2618842537 | SCN8A | c.*19T>C (n.*19T>C) | gnomAD v4 |
| 12 | g.51807449A= | CA2036195410 | SCN8A | c.*20A= (n.*20A=) | |
| 12 | g.51807449A>G | CA605238636 | SCN8A | c.*20A>G (n.*20A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51807451T>C | CA6571975 | SCN8A | c.*22T>C (n.*22T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51807451T= | CA2036195413 | SCN8A | c.*22T= (n.*22T=) | |
| 12 | g.51807452del | CA2575160525 | SCN8A | c.*23del (n.*23del) | |
| 12 | g.51807452A= | CA2036195417 | SCN8A | c.*23A= (n.*23A=) | |
| 12 | g.51807452A>G | CA2618842541 | SCN8A | c.*23A>G (n.*23A>G) | gnomAD v4 |
| 12 | g.51807452A>T | CA2036195418 | SCN8A | c.*23A>T (n.*23A>T) | dbSNP gnomAD v4 |
| 12 | g.51807453T>C | CA605238637 | SCN8A | c.*24T>C (n.*24T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51807453T= | CA2036195421 | SCN8A | c.*24T= (n.*24T=) | |
| 12 | g.51807454A= | CA2036195422 | SCN8A | c.*25A= (n.*25A=) | |
| 12 | g.51807454A>T | CA2036195423 | SCN8A | c.*25A>T (n.*25A>T) | dbSNP |
| 12 | g.51807455_51807457delinsCAG | CA2036195425 | SCN8A | c.*26_*28delinsCAG (n.*26_*28delinsCAG) | |
| 12 | g.51807456A>C | CA2618842546 | SCN8A | c.*27A>C (n.*27A>C) | gnomAD v4 |
| 12 | g.51807456A>G | CA2618842549 | SCN8A | c.*27A>G (n.*27A>G) | gnomAD v4 |
| 12 | g.51807457_51807458del | CA2036195427 | SCN8A | c.*28_*29del (n.*28_*29del) | dbSNP |
| 12 | g.51807457G>T | CA2618842551 | SCN8A | c.*28G>T (n.*28G>T) | gnomAD v4 |
| 12 | g.51807458A>G | CA2618842552 | SCN8A | c.*29A>G (n.*29A>G) | gnomAD v4 |
| 12 | g.51807460C>A | CA2618842553 | SCN8A | c.*31C>A (n.*31C>A) | gnomAD v4 |
| 12 | g.51807461T>G | CA2618842555 | SCN8A | c.*32T>G (n.*32T>G) | gnomAD v4 |
| 12 | g.51807462A= | CA2036195450 | SCN8A | c.*33A= (n.*33A=) | |
| 12 | g.51807462A>G | CA947652823 | SCN8A | c.*33A>G (n.*33A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51807464A>G | CA2726345169 | SCN8A | c.*35A>G (n.*35A>G) | dbSNP |
| 12 | g.51807465A= | CA2036195455 | SCN8A | c.*36A= (n.*36A=) | |
| 12 | g.51807465A>T | CA6571976 | SCN8A | c.*36A>T (n.*36A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51807466C>A | CA2618842560 | SCN8A | c.*37C>A (n.*37C>A) | gnomAD v4 |
| 12 | g.51807466C>G | CA2618842561 | SCN8A | c.*37C>G (n.*37C>G) | gnomAD v4 |
| 12 | g.51807468C>A | CA2618842562 | SCN8A | c.*39C>A (n.*39C>A) | gnomAD v4 |
| 12 | g.51807468C= | CA2036195458 | SCN8A | c.*39C= (n.*39C=) | |
| 12 | g.51807468C>T | CA605238638 | SCN8A | c.*39C>T (n.*39C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51807469G>A | CA6571977 | SCN8A | c.*40G>A (n.*40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51807469G>C | CA2618842569 | SCN8A | c.*40G>C (n.*40G>C) | gnomAD v4 |
| 12 | g.51807469G= | CA2036195460 | SCN8A | c.*40G= (n.*40G=) | |
| 12 | g.51807469G>T | CA2575160526 | SCN8A | c.*40G>T (n.*40G>T) | gnomAD v4 |
| 12 | g.51807470C>A | CA2618842574 | SCN8A | c.*41C>A (n.*41C>A) | gnomAD v4 |
| 12 | g.51807470dup | CA2795967154 | SCN8A | c.*41dup (n.*41dup) | |
| 12 | g.51807474T>G | CA236328056 | SCN8A | c.*45T>G (n.*45T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51807474T= | CA2036195463 | SCN8A | c.*45T= (n.*45T=) | |
| 12 | g.51807475G>A | CA605054211 | SCN8A | c.*46G>A (n.*46G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.51807475G= | CA2036195467 | SCN8A | c.*46G= (n.*46G=) | |
| 12 | g.51807476A>G | CA2618842581 | SCN8A | c.*47A>G (n.*47A>G) | gnomAD v4 |
| 12 | g.51807477A= | CA2036195472 | SCN8A | c.*48A= (n.*48A=) | |
| 12 | g.51807477A>G | CA6571978 | SCN8A | c.*48A>G (n.*48A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51807478A= | CA2036195474 | SCN8A | c.*49A= (n.*49A=) | |
| 12 | g.51807478A>G | CA2618842585 | SCN8A | c.*49A>G (n.*49A>G) | gnomAD v4 |
| 12 | g.51807479_51807481dup | CA605054212 | SCN8A | c.*50_*52dup (n.*50_*52dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51807480A>C | CA2618842590 | SCN8A | c.*51A>C (n.*51A>C) | gnomAD v4 |
| 12 | g.51807480A>T | CA2575160527 | SCN8A | c.*51A>T (n.*51A>T) | gnomAD v4 |
| 12 | g.51807481T>C | CA689784110 | SCN8A | c.*52T>C (n.*52T>C) | dbSNP gnomAD v4 |
| 12 | g.51807481T= | CA2036195478 | SCN8A | c.*52T= (n.*52T=) | |
| 12 | g.51807482T>A | CA2036195480 | SCN8A | c.*53T>A (n.*53T>A) | dbSNP |
| 12 | g.51807482T= | CA2036195479 | SCN8A | c.*53T= (n.*53T=) | |
| 12 | g.51807483G>A | CA2618842593 | SCN8A | c.*54G>A (n.*54G>A) | gnomAD v4 |
| 12 | g.51807485T>A | CA2575160528 | SCN8A | c.*56T>A (n.*56T>A) |