Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.51807374A>C | CA384890276 | SCN8A | c.5888A>C (p.Glu1963Ala) c.5765A>C (p.Glu1922Ala) c.5921A>C (p.Glu1974Ala) | |
12 | g.51807374A>G | CA384890278 | SCN8A | c.5888A>G (p.Glu1963Gly) c.5765A>G (p.Glu1922Gly) c.5921A>G (p.Glu1974Gly) | |
12 | g.51807374A>T | CA384890283 | SCN8A | c.5888A>T (p.Glu1963Val) c.5765A>T (p.Glu1922Val) c.5921A>T (p.Glu1974Val) | |
12 | g.51807375A= | CA2036195199 | SCN8A | c.5889A= (p.Glu1963=) c.5766A= (p.Glu1922=) c.5922A= (p.Glu1974=) | |
12 | g.51807375A>C | CA384890287 | SCN8A | c.5889A>C (p.Glu1963Asp) c.5766A>C (p.Glu1922Asp) c.5922A>C (p.Glu1974Asp) | |
12 | g.51807375A>G | CA480062530 | SCN8A | c.5889A>G (p.Glu1963=) c.5766A>G (p.Glu1922=) c.5922A>G (p.Glu1974=) | dbSNP |
12 | g.51807375A>T | CA384890289 | SCN8A | c.5889A>T (p.Glu1963Asp) c.5766A>T (p.Glu1922Asp) c.5922A>T (p.Glu1974Asp) | |
12 | g.51807376G>A | CA6571966 | SCN8A | c.5890G>A (p.Gly1964Arg) c.5767G>A (p.Gly1923Arg) c.5923G>A (p.Gly1975Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807376G>C | CA384890300 | SCN8A | c.5890G>C (p.Gly1964Arg) c.5767G>C (p.Gly1923Arg) c.5923G>C (p.Gly1975Arg) | |
12 | g.51807376G= | CA2036195203 | SCN8A | c.5890G= (p.Gly1964=) c.5767G= (p.Gly1923=) c.5923G= (p.Gly1975=) | |
12 | g.51807376G>T | CA384890296 | SCN8A | c.5890G>T (p.Gly1964Ter) c.5767G>T (p.Gly1923Ter) c.5923G>T (p.Gly1975Ter) | dbSNP |
12 | g.51807376_51807379delinsGGAA | CA2036195206 | SCN8A | c.5890_5893delinsGGAA (p.Gly1964=) c.5767_5770delinsGGAA (p.Gly1923=) c.5923_5926delinsGGAA (p.Gly1975=) | |
12 | g.51807377G>A | CA384890305 | SCN8A | c.5891G>A (p.Gly1964Glu) c.5768G>A (p.Gly1923Glu) c.5924G>A (p.Gly1975Glu) | gnomAD v4 |
12 | g.51807377G>C | CA384890308 | SCN8A | c.5891G>C (p.Gly1964Ala) c.5768G>C (p.Gly1923Ala) c.5924G>C (p.Gly1975Ala) | |
12 | g.51807377G>T | CA384890315 | SCN8A | c.5891G>T (p.Gly1964Val) c.5768G>T (p.Gly1923Val) c.5924G>T (p.Gly1975Val) | |
12 | g.51807381_51807383del | CA605238632 | SCN8A | c.5895_5897del (p.Arg1966del) c.5772_5774del (p.Arg1925del) c.5928_5930del (p.Arg1977del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807378A>C | CA480062536 | SCN8A | c.5892A>C (p.Gly1964=) c.5769A>C (p.Gly1923=) c.5925A>C (p.Gly1975=) | |
12 | g.51807378A>G | CA480062537 | SCN8A | c.5892A>G (p.Gly1964=) c.5769A>G (p.Gly1923=) c.5925A>G (p.Gly1975=) | |
12 | g.51807378A>T | CA480062538 | SCN8A | c.5892A>T (p.Gly1964=) c.5769A>T (p.Gly1923=) c.5925A>T (p.Gly1975=) | |
12 | g.51807379A= | CA2036195214 | SCN8A | c.5893A= (p.Arg1965=) c.5770A= (p.Arg1924=) c.5926A= (p.Arg1976=) | |
12 | g.51807379A>C | CA480062540 | SCN8A | c.5893A>C (p.Arg1965=) c.5770A>C (p.Arg1924=) c.5926A>C (p.Arg1976=) | |
12 | g.51807379A>G | CA236328002 | SCN8A | c.5893A>G (p.Arg1965Gly) c.5770A>G (p.Arg1924Gly) c.5926A>G (p.Arg1976Gly) | dbSNP gnomAD v4 |
12 | g.51807379A>T | CA384890324 | SCN8A | c.5893A>T (p.Arg1965Ter) c.5770A>T (p.Arg1924Ter) c.5926A>T (p.Arg1976Ter) | dbSNP |
12 | g.51807380G>A | CA6571967 | SCN8A | c.5894G>A (p.Arg1965Lys) c.5771G>A (p.Arg1924Lys) c.5927G>A (p.Arg1976Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807380G>C | CA384890346 | SCN8A | c.5894G>C (p.Arg1965Thr) c.5771G>C (p.Arg1924Thr) c.5927G>C (p.Arg1976Thr) | |
12 | g.51807380G= | CA2036195221 | SCN8A | c.5894G= (p.Arg1965=) c.5771G= (p.Arg1924=) c.5927G= (p.Arg1976=) | |
12 | g.51807380G>T | CA384890352 | SCN8A | c.5894G>T (p.Arg1965Ile) c.5771G>T (p.Arg1924Ile) c.5927G>T (p.Arg1976Ile) | |
12 | g.51807381A= | CA2036195224 | SCN8A | c.5895A= (p.Arg1965=) c.5772A= (p.Arg1924=) c.5928A= (p.Arg1976=) | |
12 | g.51807381A>C | CA384890353 | SCN8A | c.5895A>C (p.Arg1965Ser) c.5772A>C (p.Arg1924Ser) c.5928A>C (p.Arg1976Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807381A>G | CA480062544 | SCN8A | c.5895A>G (p.Arg1965=) c.5772A>G (p.Arg1924=) c.5928A>G (p.Arg1976=) | |
12 | g.51807381A>T | CA384890354 | SCN8A | c.5895A>T (p.Arg1965Ser) c.5772A>T (p.Arg1924Ser) c.5928A>T (p.Arg1976Ser) | |
12 | g.51807382A>C | CA480062548 | SCN8A | c.5896A>C (p.Arg1966=) c.5773A>C (p.Arg1925=) c.5929A>C (p.Arg1977=) | ClinVar dbSNP |
12 | g.51807382A>G | CA384890356 | SCN8A | c.5896A>G (p.Arg1966Gly) c.5773A>G (p.Arg1925Gly) c.5929A>G (p.Arg1977Gly) | |
12 | g.51807382A>T | CA384890359 | SCN8A | c.5896A>T (p.Arg1966Trp) c.5773A>T (p.Arg1925Trp) c.5929A>T (p.Arg1977Trp) | |
12 | g.51807383G>A | CA384890373 | SCN8A | c.5897G>A (p.Arg1966Lys) c.5774G>A (p.Arg1925Lys) c.5930G>A (p.Arg1977Lys) | ClinVar gnomAD v4 |
12 | g.51807383G>C | CA6571968 | SCN8A | c.5897G>C (p.Arg1966Thr) c.5774G>C (p.Arg1925Thr) c.5930G>C (p.Arg1977Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807383G= | CA2036195226 | SCN8A | c.5897G= (p.Arg1966=) c.5774G= (p.Arg1925=) c.5930G= (p.Arg1977=) | |
12 | g.51807383G>T | CA384890372 | SCN8A | c.5897G>T (p.Arg1966Met) c.5774G>T (p.Arg1925Met) c.5930G>T (p.Arg1977Met) | |
12 | g.51807384G>A | CA480062554 | SCN8A | c.5898G>A (p.Arg1966=) c.5775G>A (p.Arg1925=) c.5931G>A (p.Arg1977=) | |
12 | g.51807384G>C | CA384890379 | SCN8A | c.5898G>C (p.Arg1966Ser) c.5775G>C (p.Arg1925Ser) c.5931G>C (p.Arg1977Ser) | |
12 | g.51807384G>T | CA384890383 | SCN8A | c.5898G>T (p.Arg1966Ser) c.5775G>T (p.Arg1925Ser) c.5931G>T (p.Arg1977Ser) | |
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=) |