Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806208_51806215del | CA947652648 | SCN8A | c.4796-74_4796-67del (n.4796-74_4796-67del) c.2860-74_2860-67del c.4673-74_4673-67del (n.4673-74_4673-67del) c.4829-74_4829-67del (n.4829-74_4829-67del) | |
12 | g.51806209G>A | CA2575160520 | SCN8A | c.4796-73G>A (n.4796-73G>A) c.2860-73G>A c.4673-73G>A (n.4673-73G>A) c.4829-73G>A (n.4829-73G>A) | gnomAD v4 |
12 | g.51806209G>T | CA2618840886 | SCN8A | c.4796-73G>T (n.4796-73G>T) c.2860-73G>T c.4673-73G>T (n.4673-73G>T) c.4829-73G>T (n.4829-73G>T) | gnomAD v4 |
12 | g.51806210C>A | CA947652649 | SCN8A | c.4796-72C>A (n.4796-72C>A) c.2860-72C>A c.4673-72C>A (n.4673-72C>A) c.4829-72C>A (n.4829-72C>A) | gnomAD v3 gnomAD v4 |
12 | g.51806211C>A | CA947652650 | SCN8A | c.4796-71C>A (n.4796-71C>A) c.2860-71C>A c.4673-71C>A (n.4673-71C>A) c.4829-71C>A (n.4829-71C>A) | gnomAD v3 gnomAD v4 |
12 | g.51806211C>T | CA2618840888 | SCN8A | c.4796-71C>T (n.4796-71C>T) c.2860-71C>T c.4673-71C>T (n.4673-71C>T) c.4829-71C>T (n.4829-71C>T) | gnomAD v4 |
12 | g.51806212A>G | CA2618840891 | SCN8A | c.4796-70A>G (n.4796-70A>G) c.2860-70A>G c.4673-70A>G (n.4673-70A>G) c.4829-70A>G (n.4829-70A>G) | gnomAD v4 |
12 | g.51806213G>A | CA947652652 | SCN8A | c.4796-69G>A (n.4796-69G>A) c.2860-69G>A c.4673-69G>A (n.4673-69G>A) c.4829-69G>A (n.4829-69G>A) | gnomAD v3 gnomAD v4 |
12 | g.51806213G>C | CA947652653 | SCN8A | c.4796-69G>C (n.4796-69G>C) c.2860-69G>C c.4673-69G>C (n.4673-69G>C) c.4829-69G>C (n.4829-69G>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806213G= | CA2036192264 | SCN8A | c.4796-69G= (n.4796-69G=) c.2860-69G= c.4673-69G= (n.4673-69G=) c.4829-69G= (n.4829-69G=) | |
12 | g.51806213G>T | CA2618840894 | SCN8A | c.4796-69G>T (n.4796-69G>T) c.2860-69G>T c.4673-69G>T (n.4673-69G>T) c.4829-69G>T (n.4829-69G>T) | gnomAD v4 |
12 | g.51806214G>A | CA947652654 | SCN8A | c.4796-68G>A (n.4796-68G>A) c.2860-68G>A c.4673-68G>A (n.4673-68G>A) c.4829-68G>A (n.4829-68G>A) | gnomAD v3 gnomAD v4 |
12 | g.51806214G>T | CA2618840898 | SCN8A | c.4796-68G>T (n.4796-68G>T) c.2860-68G>T c.4673-68G>T (n.4673-68G>T) c.4829-68G>T (n.4829-68G>T) | gnomAD v4 |
12 | g.51806215T>A | CA2618840903 | SCN8A | c.4796-67T>A (n.4796-67T>A) c.2860-67T>A c.4673-67T>A (n.4673-67T>A) c.4829-67T>A (n.4829-67T>A) | gnomAD v4 |
12 | g.51806215T>G | CA2618840905 | SCN8A | c.4796-67T>G (n.4796-67T>G) c.2860-67T>G c.4673-67T>G (n.4673-67T>G) c.4829-67T>G (n.4829-67T>G) | gnomAD v4 |
12 | g.51806215T= | CA2036192269 | SCN8A | c.4796-67T= (n.4796-67T=) c.2860-67T= c.4673-67T= (n.4673-67T=) c.4829-67T= (n.4829-67T=) | |
12 | g.51806216A= | CA2036192274 | SCN8A | c.4796-66A= (n.4796-66A=) c.2860-66A= c.4673-66A= (n.4673-66A=) c.4829-66A= (n.4829-66A=) | |
12 | g.51806216A>C | CA2618840916 | SCN8A | c.4796-66A>C (n.4796-66A>C) c.2860-66A>C c.4673-66A>C (n.4673-66A>C) c.4829-66A>C (n.4829-66A>C) | gnomAD v4 |
12 | g.51806216A>T | CA236327264 | SCN8A | c.4796-66A>T (n.4796-66A>T) c.2860-66A>T c.4673-66A>T (n.4673-66A>T) c.4829-66A>T (n.4829-66A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806223dup | CA236327263 | SCN8A | c.4796-59dup (n.4796-59dup) c.2860-59dup c.4673-59dup (n.4673-59dup) c.4829-59dup (n.4829-59dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806216_51806223dup | CA947652659 | SCN8A | c.4796-66_4796-59dup (n.4796-66_4796-59dup) c.2860-66_2860-59dup c.4673-66_4673-59dup (n.4673-66_4673-59dup) c.4829-66_4829-59dup (n.4829-66_4829-59dup) | |
12 | g.51806223del | CA947652663 | SCN8A | c.4796-59del (n.4796-59del) c.2860-59del c.4673-59del (n.4673-59del) c.4829-59del (n.4829-59del) | gnomAD v3 gnomAD v4 |
12 | g.51806222_51806223del | CA2618840914 | SCN8A | c.4796-60_4796-59del (n.4796-60_4796-59del) c.2860-60_2860-59del c.4673-60_4673-59del (n.4673-60_4673-59del) c.4829-60_4829-59del (n.4829-60_4829-59del) | gnomAD v4 |
12 | g.51806218A= | CA2036192276 | SCN8A | c.4796-64A= (n.4796-64A=) c.2860-64A= c.4673-64A= (n.4673-64A=) c.4829-64A= (n.4829-64A=) | |
12 | g.51806218A>G | CA689803559 | SCN8A | c.4796-64A>G (n.4796-64A>G) c.2860-64A>G c.4673-64A>G (n.4673-64A>G) c.4829-64A>G (n.4829-64A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806220A>C | CA2618840922 | SCN8A | c.4796-62A>C (n.4796-62A>C) c.2860-62A>C c.4673-62A>C (n.4673-62A>C) c.4829-62A>C (n.4829-62A>C) | gnomAD v4 |
12 | g.51806221A>C | CA2618840925 | SCN8A | c.4796-61A>C (n.4796-61A>C) c.2860-61A>C c.4673-61A>C (n.4673-61A>C) c.4829-61A>C (n.4829-61A>C) | gnomAD v4 |
12 | g.51806222_51806223insT | CA2618840927 | SCN8A | c.4796-60_4796-59insT (n.4796-60_4796-59insT) c.2860-60_2860-59insT c.4673-60_4673-59insT (n.4673-60_4673-59insT) c.4829-60_4829-59insT (n.4829-60_4829-59insT) | gnomAD v4 |
12 | g.51806223A= | CA2036192280 | SCN8A | c.4796-59A= (n.4796-59A=) c.2860-59A= c.4673-59A= (n.4673-59A=) c.4829-59A= (n.4829-59A=) | |
12 | g.51806223A>G | CA236327269 | SCN8A | c.4796-59A>G (n.4796-59A>G) c.2860-59A>G c.4673-59A>G (n.4673-59A>G) c.4829-59A>G (n.4829-59A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806223A>T | CA2618840928 | SCN8A | c.4796-59A>T (n.4796-59A>T) c.2860-59A>T c.4673-59A>T (n.4673-59A>T) c.4829-59A>T (n.4829-59A>T) | gnomAD v4 |
12 | g.51806224del | CA2618840934 | SCN8A | c.4796-58del (n.4796-58del) c.2860-58del c.4673-58del (n.4673-58del) c.4829-58del (n.4829-58del) | gnomAD v4 |
12 | g.51806224T>A | CA2618840933 | SCN8A | c.4796-58T>A (n.4796-58T>A) c.2860-58T>A c.4673-58T>A (n.4673-58T>A) c.4829-58T>A (n.4829-58T>A) | gnomAD v4 |
12 | g.51806224T>C | CA2618840932 | SCN8A | c.4796-58T>C (n.4796-58T>C) c.2860-58T>C c.4673-58T>C (n.4673-58T>C) c.4829-58T>C (n.4829-58T>C) | gnomAD v4 |
12 | g.51806224T>G | CA2618840930 | SCN8A | c.4796-58T>G (n.4796-58T>G) c.2860-58T>G c.4673-58T>G (n.4673-58T>G) c.4829-58T>G (n.4829-58T>G) | gnomAD v4 |
12 | g.51806224_51806228delinsTAAAG | CA2036192281 | SCN8A | c.4796-58_4796-54delinsTAAAG (n.4796-58_4796-54delinsTAAAG) c.2860-58_2860-54delinsTAAAG c.4673-58_4673-54delinsTAAAG (n.4673-58_4673-54delinsTAAAG) c.4829-58_4829-54delinsTAAAG (n.4829-58_4829-54delinsTAAAG) | |
12 | g.51806225A>C | CA2618840936 | SCN8A | c.4796-57A>C (n.4796-57A>C) c.2860-57A>C c.4673-57A>C (n.4673-57A>C) c.4829-57A>C (n.4829-57A>C) | gnomAD v4 |
12 | g.51806225A>G | CA2618840938 | SCN8A | c.4796-57A>G (n.4796-57A>G) c.2860-57A>G c.4673-57A>G (n.4673-57A>G) c.4829-57A>G (n.4829-57A>G) | gnomAD v4 |
12 | g.51806225A>T | CA2618840958 | SCN8A | c.4796-57A>T (n.4796-57A>T) c.2860-57A>T c.4673-57A>T (n.4673-57A>T) c.4829-57A>T (n.4829-57A>T) | gnomAD v4 |
12 | g.51806226_51806227del | CA2795967141 | SCN8A | c.4796-56_4796-55del (n.4796-56_4796-55del) c.2860-56_2860-55del c.4673-56_4673-55del (n.4673-56_4673-55del) c.4829-56_4829-55del (n.4829-56_4829-55del) | |
12 | g.51806226_51806229del | CA605238629 | SCN8A | c.4796-56_4796-53del (n.4796-56_4796-53del) c.2860-56_2860-53del c.4673-56_4673-53del (n.4673-56_4673-53del) c.4829-56_4829-53del (n.4829-56_4829-53del) | dbSNP gnomAD v2 |
12 | g.51806229_51806234del | CA2618840959 | SCN8A | c.4796-53_4796-48del (n.4796-53_4796-48del) c.2860-53_2860-48del c.4673-53_4673-48del (n.4673-53_4673-48del) c.4829-53_4829-48del (n.4829-53_4829-48del) | gnomAD v4 |
12 | g.51806226A= | CA2036192283 | SCN8A | c.4796-56A= (n.4796-56A=) c.2860-56A= c.4673-56A= (n.4673-56A=) c.4829-56A= (n.4829-56A=) | |
12 | g.51806226A>C | CA2618840962 | SCN8A | c.4796-56A>C (n.4796-56A>C) c.2860-56A>C c.4673-56A>C (n.4673-56A>C) c.4829-56A>C (n.4829-56A>C) | gnomAD v4 |
12 | g.51806226A>G | CA2036192284 | SCN8A | c.4796-56A>G (n.4796-56A>G) c.2860-56A>G c.4673-56A>G (n.4673-56A>G) c.4829-56A>G (n.4829-56A>G) | dbSNP gnomAD v4 |
12 | g.51806227A>C | CA2618840963 | SCN8A | c.4796-55A>C (n.4796-55A>C) c.2860-55A>C c.4673-55A>C (n.4673-55A>C) c.4829-55A>C (n.4829-55A>C) | gnomAD v4 |
12 | g.51806228G>A | CA2618840965 | SCN8A | c.4796-54G>A (n.4796-54G>A) c.2860-54G>A c.4673-54G>A (n.4673-54G>A) c.4829-54G>A (n.4829-54G>A) | gnomAD v4 |
12 | g.51806228G>C | CA2618840970 | SCN8A | c.4796-54G>C (n.4796-54G>C) c.2860-54G>C c.4673-54G>C (n.4673-54G>C) c.4829-54G>C (n.4829-54G>C) | gnomAD v4 |
12 | g.51806228G>T | CA2618840971 | SCN8A | c.4796-54G>T (n.4796-54G>T) c.2860-54G>T c.4673-54G>T (n.4673-54G>T) c.4829-54G>T (n.4829-54G>T) | gnomAD v4 |
12 | g.51806229A>T | CA2618840974 | SCN8A | c.4796-53A>T (n.4796-53A>T) c.2860-53A>T c.4673-53A>T (n.4673-53A>T) c.4829-53A>T (n.4829-53A>T) | gnomAD v4 |
12 | g.51806231_51806234del | CA2838315756 | SCN8A | c.4796-51_4796-48del (n.4796-51_4796-48del) c.2860-51_2860-48del c.4673-51_4673-48del (n.4673-51_4673-48del) c.4829-51_4829-48del (n.4829-51_4829-48del) | |
12 | g.51806230G>C | CA2036192289 | SCN8A | c.4796-52G>C (n.4796-52G>C) c.2860-52G>C c.4673-52G>C (n.4673-52G>C) c.4829-52G>C (n.4829-52G>C) | dbSNP gnomAD v4 |
12 | g.51806230G= | CA2036192287 | SCN8A | c.4796-52G= (n.4796-52G=) c.2860-52G= c.4673-52G= (n.4673-52G=) c.4829-52G= (n.4829-52G=) | |
12 | g.51806230G>T | CA2618841062 | SCN8A | c.4796-52G>T (n.4796-52G>T) c.2860-52G>T c.4673-52G>T (n.4673-52G>T) c.4829-52G>T (n.4829-52G>T) | gnomAD v4 |
12 | g.51806231A>C | CA2618841068 | SCN8A | c.4796-51A>C (n.4796-51A>C) c.2860-51A>C c.4673-51A>C (n.4673-51A>C) c.4829-51A>C (n.4829-51A>C) | gnomAD v4 |
12 | g.51806232A= | CA2036192291 | SCN8A | c.4796-50A= (n.4796-50A=) c.2860-50A= c.4673-50A= (n.4673-50A=) c.4829-50A= (n.4829-50A=) | |
12 | g.51806232A>G | CA689803563 | SCN8A | c.4796-50A>G (n.4796-50A>G) c.2860-50A>G c.4673-50A>G (n.4673-50A>G) c.4829-50A>G (n.4829-50A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806233A= | CA2036192294 | SCN8A | c.4796-49A= (n.4796-49A=) c.2860-49A= c.4673-49A= (n.4673-49A=) c.4829-49A= (n.4829-49A=) | |
12 | g.51806233A>G | CA6571864 | SCN8A | c.4796-49A>G (n.4796-49A>G) c.2860-49A>G c.4673-49A>G (n.4673-49A>G) c.4829-49A>G (n.4829-49A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806233A>T | CA2618841075 | SCN8A | c.4796-49A>T (n.4796-49A>T) c.2860-49A>T c.4673-49A>T (n.4673-49A>T) c.4829-49A>T (n.4829-49A>T) | gnomAD v4 |
12 | g.51806234G>A | CA2618841078 | SCN8A | c.4796-48G>A (n.4796-48G>A) c.2860-48G>A c.4673-48G>A (n.4673-48G>A) c.4829-48G>A (n.4829-48G>A) | gnomAD v4 |
12 | g.51806234G>C | CA2618841079 | SCN8A | c.4796-48G>C (n.4796-48G>C) c.2860-48G>C c.4673-48G>C (n.4673-48G>C) c.4829-48G>C (n.4829-48G>C) | gnomAD v4 |
12 | g.51806234G>T | CA2618841080 | SCN8A | c.4796-48G>T (n.4796-48G>T) c.2860-48G>T c.4673-48G>T (n.4673-48G>T) c.4829-48G>T (n.4829-48G>T) | gnomAD v4 |
12 | g.51806235G>A | CA2618841085 | SCN8A | c.4796-47G>A (n.4796-47G>A) c.2860-47G>A c.4673-47G>A (n.4673-47G>A) c.4829-47G>A (n.4829-47G>A) | gnomAD v4 |
12 | g.51806235G>T | CA2618841087 | SCN8A | c.4796-47G>T (n.4796-47G>T) c.2860-47G>T c.4673-47G>T (n.4673-47G>T) c.4829-47G>T (n.4829-47G>T) | gnomAD v4 |
12 | g.51806236G>A | CA605238630 | SCN8A | c.4796-46G>A (n.4796-46G>A) c.2860-46G>A c.4673-46G>A (n.4673-46G>A) c.4829-46G>A (n.4829-46G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806236G>C | CA2618841092 | SCN8A | c.4796-46G>C (n.4796-46G>C) c.2860-46G>C c.4673-46G>C (n.4673-46G>C) c.4829-46G>C (n.4829-46G>C) | gnomAD v4 |
12 | g.51806236G= | CA2036192298 | SCN8A | c.4796-46G= (n.4796-46G=) c.2860-46G= c.4673-46G= (n.4673-46G=) c.4829-46G= (n.4829-46G=) | |
12 | g.51806236G>T | CA2618841093 | SCN8A | c.4796-46G>T (n.4796-46G>T) c.2860-46G>T c.4673-46G>T (n.4673-46G>T) c.4829-46G>T (n.4829-46G>T) | gnomAD v4 |
12 | g.51806237T>A | CA2618841094 | SCN8A | c.4796-45T>A (n.4796-45T>A) c.2860-45T>A c.4673-45T>A (n.4673-45T>A) c.4829-45T>A (n.4829-45T>A) | gnomAD v4 |
12 | g.51806237T>C | CA2618841095 | SCN8A | c.4796-45T>C (n.4796-45T>C) c.2860-45T>C c.4673-45T>C (n.4673-45T>C) c.4829-45T>C (n.4829-45T>C) | gnomAD v4 |
12 | g.51806237T>G | CA6571865 | SCN8A | c.4796-45T>G (n.4796-45T>G) c.2860-45T>G c.4673-45T>G (n.4673-45T>G) c.4829-45T>G (n.4829-45T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806237T= | CA2036192303 | SCN8A | c.4796-45T= (n.4796-45T=) c.2860-45T= c.4673-45T= (n.4673-45T=) c.4829-45T= (n.4829-45T=) | |
12 | g.51806238G>A | CA2618841101 | SCN8A | c.4796-44G>A (n.4796-44G>A) c.2860-44G>A c.4673-44G>A (n.4673-44G>A) c.4829-44G>A (n.4829-44G>A) | gnomAD v4 |
12 | g.51806238G>T | CA2618841131 | SCN8A | c.4796-44G>T (n.4796-44G>T) c.2860-44G>T c.4673-44G>T (n.4673-44G>T) c.4829-44G>T (n.4829-44G>T) | gnomAD v4 |
12 | g.51806239T>A | CA2618841140 | SCN8A | c.4796-43T>A (n.4796-43T>A) c.2860-43T>A c.4673-43T>A (n.4673-43T>A) c.4829-43T>A (n.4829-43T>A) | gnomAD v4 |
12 | g.51806239T>C | CA605238631 | SCN8A | c.4796-43T>C (n.4796-43T>C) c.2860-43T>C c.4673-43T>C (n.4673-43T>C) c.4829-43T>C (n.4829-43T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806239T>G | CA2618841137 | SCN8A | c.4796-43T>G (n.4796-43T>G) c.2860-43T>G c.4673-43T>G (n.4673-43T>G) c.4829-43T>G (n.4829-43T>G) | gnomAD v4 |
12 | g.51806239T= | CA2036192306 | SCN8A | c.4796-43T= (n.4796-43T=) c.2860-43T= c.4673-43T= (n.4673-43T=) c.4829-43T= (n.4829-43T=) | |
12 | g.51806240C>A | CA2618841145 | SCN8A | c.4796-42C>A (n.4796-42C>A) c.2860-42C>A c.4673-42C>A (n.4673-42C>A) c.4829-42C>A (n.4829-42C>A) | gnomAD v4 |
12 | g.51806240C>T | CA2618841146 | SCN8A | c.4796-42C>T (n.4796-42C>T) c.2860-42C>T c.4673-42C>T (n.4673-42C>T) c.4829-42C>T (n.4829-42C>T) | gnomAD v4 |
12 | g.51806241T>C | CA2618841149 | SCN8A | c.4796-41T>C (n.4796-41T>C) c.2860-41T>C c.4673-41T>C (n.4673-41T>C) c.4829-41T>C (n.4829-41T>C) | gnomAD v4 |
12 | g.51806242C>A | CA2618841151 | SCN8A | c.4796-40C>A (n.4796-40C>A) c.2860-40C>A c.4673-40C>A (n.4673-40C>A) c.4829-40C>A (n.4829-40C>A) | gnomAD v4 |
12 | g.51806242C>G | CA2618841153 | SCN8A | c.4796-40C>G (n.4796-40C>G) c.2860-40C>G c.4673-40C>G (n.4673-40C>G) c.4829-40C>G (n.4829-40C>G) | gnomAD v4 |
12 | g.51806244del | CA2618841150 | SCN8A | c.4796-38del (n.4796-38del) c.2860-38del c.4673-38del (n.4673-38del) c.4829-38del (n.4829-38del) | gnomAD v4 |
12 | g.51806243C>A | CA2618841156 | SCN8A | c.4796-39C>A (n.4796-39C>A) c.2860-39C>A c.4673-39C>A (n.4673-39C>A) c.4829-39C>A (n.4829-39C>A) | gnomAD v4 |
12 | g.51806243_51806244insAAT | CA2618841163 | SCN8A | c.4796-39_4796-38insAAT (n.4796-39_4796-38insAAT) c.2860-39_2860-38insAAT c.4673-39_4673-38insAAT (n.4673-39_4673-38insAAT) c.4829-39_4829-38insAAT (n.4829-39_4829-38insAAT) | gnomAD v4 |
12 | g.51806244C>A | CA6571866 | SCN8A | c.4796-38C>A (n.4796-38C>A) c.2860-38C>A c.4673-38C>A (n.4673-38C>A) c.4829-38C>A (n.4829-38C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806244C= | CA2036192312 | SCN8A | c.4796-38C= (n.4796-38C=) c.2860-38C= c.4673-38C= (n.4673-38C=) c.4829-38C= (n.4829-38C=) | |
12 | g.51806244C>G | CA2036192310 | SCN8A | c.4796-38C>G (n.4796-38C>G) c.2860-38C>G c.4673-38C>G (n.4673-38C>G) c.4829-38C>G (n.4829-38C>G) | dbSNP gnomAD v4 |
12 | g.51806244C>T | CA947652667 | SCN8A | c.4796-38C>T (n.4796-38C>T) c.2860-38C>T c.4673-38C>T (n.4673-38C>T) c.4829-38C>T (n.4829-38C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806244_51806245insTCAAAGAGAAAGGGTGTCTCCA | CA2618841168 | SCN8A | c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA (n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA) c.2860-38_2860-37insTCAAAGAGAAAGGGTGTCTCCA c.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA (n.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA) c.4829-38_4829-37insTCAAAGAGAAAGGGTGTCTCCA (n.4829-38_4829-37insTCAAAGAGAAAGGGTGTCTCCA) | gnomAD v4 |
12 | g.51806245A>G | CA2618841170 | SCN8A | c.4796-37A>G (n.4796-37A>G) c.2860-37A>G c.4673-37A>G (n.4673-37A>G) c.4829-37A>G (n.4829-37A>G) | gnomAD v4 |
12 | g.51806245_51806246del | CA2618841169 | SCN8A | c.4796-37_4796-36del (n.4796-37_4796-36del) c.2860-37_2860-36del c.4673-37_4673-36del (n.4673-37_4673-36del) c.4829-37_4829-36del (n.4829-37_4829-36del) | gnomAD v4 |
12 | g.51806246T>C | CA2036192317 | SCN8A | c.4796-36T>C (n.4796-36T>C) c.2860-36T>C c.4673-36T>C (n.4673-36T>C) c.4829-36T>C (n.4829-36T>C) | dbSNP gnomAD v4 |
12 | g.51806246T>G | CA2618841175 | SCN8A | c.4796-36T>G (n.4796-36T>G) c.2860-36T>G c.4673-36T>G (n.4673-36T>G) c.4829-36T>G (n.4829-36T>G) | gnomAD v4 |
12 | g.51806246T= | CA2036192315 | SCN8A | c.4796-36T= (n.4796-36T=) c.2860-36T= c.4673-36T= (n.4673-36T=) c.4829-36T= (n.4829-36T=) | |
12 | g.51806247C>A | CA6571867 | SCN8A | c.4796-35C>A (n.4796-35C>A) c.2860-35C>A c.4673-35C>A (n.4673-35C>A) c.4829-35C>A (n.4829-35C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806247C= | CA2036192319 | SCN8A | c.4796-35C= (n.4796-35C=) c.2860-35C= c.4673-35C= (n.4673-35C=) c.4829-35C= (n.4829-35C=) | |
12 | g.51806247C>G | CA2618841181 | SCN8A | c.4796-35C>G (n.4796-35C>G) c.2860-35C>G c.4673-35C>G (n.4673-35C>G) c.4829-35C>G (n.4829-35C>G) | gnomAD v4 |
12 | g.51806248T>C | CA2618841183 | SCN8A | c.4796-34T>C (n.4796-34T>C) c.2860-34T>C c.4673-34T>C (n.4673-34T>C) c.4829-34T>C (n.4829-34T>C) | gnomAD v4 |
12 | g.51806248T>G | CA2618841187 | SCN8A | c.4796-34T>G (n.4796-34T>G) c.2860-34T>G c.4673-34T>G (n.4673-34T>G) c.4829-34T>G (n.4829-34T>G) | gnomAD v4 |
12 | g.51806249C>A | CA2618841206 | SCN8A | c.4796-33C>A (n.4796-33C>A) c.2860-33C>A c.4673-33C>A (n.4673-33C>A) c.4829-33C>A (n.4829-33C>A) | gnomAD v4 |
12 | g.51806249C>G | CA2618841207 | SCN8A | c.4796-33C>G (n.4796-33C>G) c.2860-33C>G c.4673-33C>G (n.4673-33C>G) c.4829-33C>G (n.4829-33C>G) | gnomAD v4 |
12 | g.51806249C>T | CA2575160521 | SCN8A | c.4796-33C>T (n.4796-33C>T) c.2860-33C>T c.4673-33C>T (n.4673-33C>T) c.4829-33C>T (n.4829-33C>T) | |
12 | g.51806251A= | CA2036192322 | SCN8A | c.4796-31A= (n.4796-31A=) c.2860-31A= c.4673-31A= (n.4673-31A=) c.4829-31A= (n.4829-31A=) | |
12 | g.51806251A>C | CA2618841211 | SCN8A | c.4796-31A>C (n.4796-31A>C) c.2860-31A>C c.4673-31A>C (n.4673-31A>C) c.4829-31A>C (n.4829-31A>C) | gnomAD v4 |
12 | g.51806251A>G | CA689803576 | SCN8A | c.4796-31A>G (n.4796-31A>G) c.2860-31A>G c.4673-31A>G (n.4673-31A>G) c.4829-31A>G (n.4829-31A>G) | dbSNP gnomAD v4 |
12 | g.51806253A>C | CA2618841215 | SCN8A | c.4796-29A>C (n.4796-29A>C) c.2860-29A>C c.4673-29A>C (n.4673-29A>C) c.4829-29A>C (n.4829-29A>C) | gnomAD v4 |
12 | g.51806253A>G | CA2575160522 | SCN8A | c.4796-29A>G (n.4796-29A>G) c.2860-29A>G c.4673-29A>G (n.4673-29A>G) c.4829-29A>G (n.4829-29A>G) | |
12 | g.51806254A>G | CA2618841218 | SCN8A | c.4796-28A>G (n.4796-28A>G) c.2860-28A>G c.4673-28A>G (n.4673-28A>G) c.4829-28A>G (n.4829-28A>G) | gnomAD v4 |
12 | g.51806254A>T | CA2618841219 | SCN8A | c.4796-28A>T (n.4796-28A>T) c.2860-28A>T c.4673-28A>T (n.4673-28A>T) c.4829-28A>T (n.4829-28A>T) | gnomAD v4 |
12 | g.51806255C>A | CA2618841222 | SCN8A | c.4796-27C>A (n.4796-27C>A) c.2860-27C>A c.4673-27C>A (n.4673-27C>A) c.4829-27C>A (n.4829-27C>A) | gnomAD v4 |
12 | g.51806255C= | CA2036192326 | SCN8A | c.4796-27C= (n.4796-27C=) c.2860-27C= c.4673-27C= (n.4673-27C=) c.4829-27C= (n.4829-27C=) | |
12 | g.51806255C>T | CA6571868 | SCN8A | c.4796-27C>T (n.4796-27C>T) c.2860-27C>T c.4673-27C>T (n.4673-27C>T) c.4829-27C>T (n.4829-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806256A= | CA2036192653 | SCN8A | c.4796-26A= (n.4796-26A=) c.2860-26A= c.4673-26A= (n.4673-26A=) c.4829-26A= (n.4829-26A=) | |
12 | g.51806256A>G | CA6571870 | SCN8A | c.4796-26A>G (n.4796-26A>G) c.2860-26A>G c.4673-26A>G (n.4673-26A>G) c.4829-26A>G (n.4829-26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806256A>T | CA6571869 | SCN8A | c.4796-26A>T (n.4796-26A>T) c.2860-26A>T c.4673-26A>T (n.4673-26A>T) c.4829-26A>T (n.4829-26A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806257_51806258del | CA2618841273 | SCN8A | c.4796-25_4796-24del (n.4796-25_4796-24del) c.2860-25_2860-24del c.4673-25_4673-24del (n.4673-25_4673-24del) c.4829-25_4829-24del (n.4829-25_4829-24del) | gnomAD v4 |
12 | g.51806257T>C | CA2618841276 | SCN8A | c.4796-25T>C (n.4796-25T>C) c.2860-25T>C c.4673-25T>C (n.4673-25T>C) c.4829-25T>C (n.4829-25T>C) | gnomAD v4 |
12 | g.51806258A>C | CA2618841278 | SCN8A | c.4796-24A>C (n.4796-24A>C) c.2860-24A>C c.4673-24A>C (n.4673-24A>C) c.4829-24A>C (n.4829-24A>C) | gnomAD v4 |
12 | g.51806258_51806261delinsAACT | CA2036192656 | SCN8A | c.4796-24_4796-21delinsAACT (n.4796-24_4796-21delinsAACT) c.2860-24_2860-21delinsAACT c.4673-24_4673-21delinsAACT (n.4673-24_4673-21delinsAACT) c.4829-24_4829-21delinsAACT (n.4829-24_4829-21delinsAACT) | |
12 | g.51806259_51806261del | CA2036192658 | SCN8A | c.4796-23_4796-21del (n.4796-23_4796-21del) c.2860-23_2860-21del c.4673-23_4673-21del (n.4673-23_4673-21del) c.4829-23_4829-21del (n.4829-23_4829-21del) | dbSNP |
12 | g.51806260C>A | CA2618841279 | SCN8A | c.4796-22C>A (n.4796-22C>A) c.2860-22C>A c.4673-22C>A (n.4673-22C>A) c.4829-22C>A (n.4829-22C>A) | gnomAD v4 |
12 | g.51806265_51806267del | CA2795967142 | SCN8A | c.4796-17_4796-15del (n.4796-17_4796-15del) c.2860-17_2860-15del c.4673-17_4673-15del (n.4673-17_4673-15del) c.4829-17_4829-15del (n.4829-17_4829-15del) | |
12 | g.51806261T>A | CA2618841282 | SCN8A | c.4796-21T>A (n.4796-21T>A) c.2860-21T>A c.4673-21T>A (n.4673-21T>A) c.4829-21T>A (n.4829-21T>A) | gnomAD v4 |
12 | g.51806261T>G | CA2618841284 | SCN8A | c.4796-21T>G (n.4796-21T>G) c.2860-21T>G c.4673-21T>G (n.4673-21T>G) c.4829-21T>G (n.4829-21T>G) | gnomAD v4 |
12 | g.51806262T>A | CA2618841285 | SCN8A | c.4796-20T>A (n.4796-20T>A) c.2860-20T>A c.4673-20T>A (n.4673-20T>A) c.4829-20T>A (n.4829-20T>A) | gnomAD v4 |
12 | g.51806262T>G | CA2618841286 | SCN8A | c.4796-20T>G (n.4796-20T>G) c.2860-20T>G c.4673-20T>G (n.4673-20T>G) c.4829-20T>G (n.4829-20T>G) | gnomAD v4 |
12 | g.51806263C>A | CA2618841289 | SCN8A | c.4796-19C>A (n.4796-19C>A) c.2860-19C>A c.4673-19C>A (n.4673-19C>A) c.4829-19C>A (n.4829-19C>A) | gnomAD v4 |
12 | g.51806263C>G | CA2618841291 | SCN8A | c.4796-19C>G (n.4796-19C>G) c.2860-19C>G c.4673-19C>G (n.4673-19C>G) c.4829-19C>G (n.4829-19C>G) | gnomAD v4 |
12 | g.51806263C>T | CA2618841294 | SCN8A | c.4796-19C>T (n.4796-19C>T) c.2860-19C>T c.4673-19C>T (n.4673-19C>T) c.4829-19C>T (n.4829-19C>T) | gnomAD v4 |
12 | g.51806266C>A | CA2618841298 | SCN8A | c.4796-16C>A (n.4796-16C>A) c.2860-16C>A c.4673-16C>A (n.4673-16C>A) c.4829-16C>A (n.4829-16C>A) | gnomAD v4 |
12 | g.51806266C= | CA2036192661 | SCN8A | c.4796-16C= (n.4796-16C=) c.2860-16C= c.4673-16C= (n.4673-16C=) c.4829-16C= (n.4829-16C=) | |
12 | g.51806266C>G | CA2036192662 | SCN8A | c.4796-16C>G (n.4796-16C>G) c.2860-16C>G c.4673-16C>G (n.4673-16C>G) c.4829-16C>G (n.4829-16C>G) | dbSNP |
12 | g.51806268_51806269dup | CA2739272033 | SCN8A | c.4796-14_4796-13dup (n.4796-14_4796-13dup) c.2860-14_2860-13dup c.4673-14_4673-13dup (n.4673-14_4673-13dup) c.4829-14_4829-13dup (n.4829-14_4829-13dup) | ClinVar |
12 | g.51806268A>G | CA2618841299 | SCN8A | c.4796-14A>G (n.4796-14A>G) c.2860-14A>G c.4673-14A>G (n.4673-14A>G) c.4829-14A>G (n.4829-14A>G) | gnomAD v4 |
12 | g.51806269T>C | CA2618841301 | SCN8A | c.4796-13T>C (n.4796-13T>C) c.2860-13T>C c.4673-13T>C (n.4673-13T>C) c.4829-13T>C (n.4829-13T>C) | gnomAD v4 |
12 | g.51806271C>A | CA2618841305 | SCN8A | c.4796-11C>A (n.4796-11C>A) c.2860-11C>A c.4673-11C>A (n.4673-11C>A) c.4829-11C>A (n.4829-11C>A) | gnomAD v4 |
12 | g.51806271C>G | CA2795967143 | SCN8A | c.4796-11C>G (n.4796-11C>G) c.2860-11C>G c.4673-11C>G (n.4673-11C>G) c.4829-11C>G (n.4829-11C>G) | |
12 | g.51806271C>T | CA2618841304 | SCN8A | c.4796-11C>T (n.4796-11C>T) c.2860-11C>T c.4673-11C>T (n.4673-11C>T) c.4829-11C>T (n.4829-11C>T) | gnomAD v4 |
12 | g.51806272C>A | CA2618841308 | SCN8A | c.4796-10C>A (n.4796-10C>A) c.2860-10C>A c.4673-10C>A (n.4673-10C>A) c.4829-10C>A (n.4829-10C>A) | gnomAD v4 |
12 | g.51806272C= | CA2036192664 | SCN8A | c.4796-10C= (n.4796-10C=) c.2860-10C= c.4673-10C= (n.4673-10C=) c.4829-10C= (n.4829-10C=) | |
12 | g.51806272C>G | CA2575160523 | SCN8A | c.4796-10C>G (n.4796-10C>G) c.2860-10C>G c.4673-10C>G (n.4673-10C>G) c.4829-10C>G (n.4829-10C>G) | ClinVar gnomAD v4 |
12 | g.51806272C>T | CA689803587 | SCN8A | c.4796-10C>T (n.4796-10C>T) c.2860-10C>T c.4673-10C>T (n.4673-10C>T) c.4829-10C>T (n.4829-10C>T) | ClinVar dbSNP gnomAD v4 |
12 | g.51806274C>A | CA2618841316 | SCN8A | c.4796-8C>A (n.4796-8C>A) c.2860-8C>A c.4673-8C>A (n.4673-8C>A) c.4829-8C>A (n.4829-8C>A) | gnomAD v4 |
12 | g.51806274C= | CA2036192665 | SCN8A | c.4796-8C= (n.4796-8C=) c.2860-8C= c.4673-8C= (n.4673-8C=) c.4829-8C= (n.4829-8C=) | |
12 | g.51806274C>T | CA6571871 | SCN8A | c.4796-8C>T (n.4796-8C>T) c.2860-8C>T c.4673-8C>T (n.4673-8C>T) c.4829-8C>T (n.4829-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806277C>T | CA2618841322 | SCN8A | c.4796-5C>T (n.4796-5C>T) c.2860-5C>T c.4673-5C>T (n.4673-5C>T) c.4829-5C>T (n.4829-5C>T) | gnomAD v4 |
12 | g.51806280A>C | CA384880247 | SCN8A | c.4796-2A>C (n.4796-2A>C) c.2860-2A>C c.4673-2A>C (n.4673-2A>C) c.4829-2A>C (n.4829-2A>C) | |
12 | g.51806280A>G | CA384880248 | SCN8A | c.4796-2A>G (n.4796-2A>G) c.2860-2A>G c.4673-2A>G (n.4673-2A>G) c.4829-2A>G (n.4829-2A>G) | |
12 | g.51806280A>T | CA384880249 | SCN8A | c.4796-2A>T (n.4796-2A>T) c.2860-2A>T c.4673-2A>T (n.4673-2A>T) c.4829-2A>T (n.4829-2A>T) | |
12 | g.51806281G>A | CA384880250 | SCN8A | c.4796-1G>A (n.4796-1G>A) c.2860-1G>A c.4673-1G>A (n.4673-1G>A) c.4829-1G>A (n.4829-1G>A) | |
12 | g.51806281G>C | CA384880251 | SCN8A | c.4796-1G>C (n.4796-1G>C) c.2860-1G>C c.4673-1G>C (n.4673-1G>C) c.4829-1G>C (n.4829-1G>C) | |
12 | g.51806281G>T | CA384880252 | SCN8A | c.4796-1G>T (n.4796-1G>T) c.2860-1G>T c.4673-1G>T (n.4673-1G>T) c.4829-1G>T (n.4829-1G>T) | gnomAD v4 |
12 | g.51806282G>A | CA384880253 | SCN8A | c.4796G>A (p.Gly1599Glu) c.2860G>A c.4673G>A (p.Gly1558Glu) c.4829G>A (p.Gly1610Glu) | |
12 | g.51806282G>C | CA384880255 | SCN8A | c.4796G>C (p.Gly1599Ala) c.2860G>C c.4673G>C (p.Gly1558Ala) c.4829G>C (p.Gly1610Ala) | |
12 | g.51806282G>T | CA384880254 | SCN8A | c.4796G>T (p.Gly1599Val) c.2860G>T c.4673G>T (p.Gly1558Val) c.4829G>T (p.Gly1610Val) | gnomAD v4 |
12 | g.51806283A>C | CA479787987 | SCN8A | c.4797A>C (p.Gly1599=) c.2861A>C c.4674A>C (p.Gly1558=) c.4830A>C (p.Gly1610=) | |
12 | g.51806283A>G | CA479787988 | SCN8A | c.4797A>G (p.Gly1599=) c.2861A>G c.4674A>G (p.Gly1558=) c.4830A>G (p.Gly1610=) | |
12 | g.51806283A>T | CA479787989 | SCN8A | c.4797A>T (p.Gly1599=) c.2861A>T c.4674A>T (p.Gly1558=) c.4830A>T (p.Gly1610=) | |
12 | g.51806284A= | CA2036192673 | SCN8A | c.4798A= (p.Met1600=) c.2862A= c.4675A= (p.Met1559=) c.4831A= (p.Met1611=) | |
12 | g.51806284A>C | CA384880256 | SCN8A | c.4798A>C (p.Met1600Leu) c.2862A>C c.4675A>C (p.Met1559Leu) c.4831A>C (p.Met1611Leu) | |
12 | g.51806284A>G | CA318286 | SCN8A | c.4798A>G (p.Met1600Val) c.2862A>G c.4675A>G (p.Met1559Val) c.4831A>G (p.Met1611Val) | ClinVar dbSNP |
12 | g.51806284A>T | CA384880257 | SCN8A | c.4798A>T (p.Met1600Leu) c.2862A>T c.4675A>T (p.Met1559Leu) c.4831A>T (p.Met1611Leu) | |
12 | g.51806285T>A | CA384880258 | SCN8A | c.4799T>A (p.Met1600Lys) c.2863T>A c.4676T>A (p.Met1559Lys) c.4832T>A (p.Met1611Lys) | |
12 | g.51806285T>C | CA384880259 | SCN8A | c.4799T>C (p.Met1600Thr) c.2863T>C c.4676T>C (p.Met1559Thr) c.4832T>C (p.Met1611Thr) | |
12 | g.51806285T>G | CA384880260 | SCN8A | c.4799T>G (p.Met1600Arg) c.2863T>G c.4676T>G (p.Met1559Arg) c.4832T>G (p.Met1611Arg) | |
12 | g.51806286G>A | CA384880261 | SCN8A | c.4800G>A (p.Met1600Ile) c.2864G>A c.4677G>A (p.Met1559Ile) c.4833G>A (p.Met1611Ile) | ClinVar dbSNP |
12 | g.51806286G>C | CA384880262 | SCN8A | c.4800G>C (p.Met1600Ile) c.2864G>C c.4677G>C (p.Met1559Ile) c.4833G>C (p.Met1611Ile) | |
12 | g.51806286G= | CA2036192686 | SCN8A | c.4800G= (p.Met1600=) c.2864G= c.4677G= (p.Met1559=) c.4833G= (p.Met1611=) | |
12 | g.51806286G>T | CA384880263 | SCN8A | c.4800G>T (p.Met1600Ile) c.2864G>T c.4677G>T (p.Met1559Ile) c.4833G>T (p.Met1611Ile) | |
12 | g.51806287T>A | CA384880264 | SCN8A | c.4801T>A (p.Phe1601Ile) c.2865T>A c.4678T>A (p.Phe1560Ile) c.4834T>A (p.Phe1612Ile) | |
12 | g.51806287T>C | CA384880265 | SCN8A | c.4801T>C (p.Phe1601Leu) c.2865T>C c.4678T>C (p.Phe1560Leu) c.4834T>C (p.Phe1612Leu) | |
12 | g.51806287T>G | CA384880266 | SCN8A | c.4801T>G (p.Phe1601Val) c.2865T>G c.4678T>G (p.Phe1560Val) c.4834T>G (p.Phe1612Val) | |
12 | g.51806288T>A | CA384880267 | SCN8A | c.4802T>A (p.Phe1601Tyr) c.2866T>A c.4679T>A (p.Phe1560Tyr) c.4835T>A (p.Phe1612Tyr) | |
12 | g.51806288T>C | CA384880268 | SCN8A | c.4802T>C (p.Phe1601Ser) c.2866T>C c.4679T>C (p.Phe1560Ser) c.4835T>C (p.Phe1612Ser) | |
12 | g.51806288T>G | CA384880269 | SCN8A | c.4802T>G (p.Phe1601Cys) c.2866T>G c.4679T>G (p.Phe1560Cys) c.4835T>G (p.Phe1612Cys) | |
12 | g.51806289C>A | CA384880271 | SCN8A | c.4803C>A (p.Phe1601Leu) c.2867C>A c.4680C>A (p.Phe1560Leu) c.4836C>A (p.Phe1612Leu) | |
12 | g.51806289C>G | CA384880270 | SCN8A | c.4803C>G (p.Phe1601Leu) c.2867C>G c.4680C>G (p.Phe1560Leu) c.4836C>G (p.Phe1612Leu) | |
12 | g.51806289C>T | CA479787990 | SCN8A | c.4803C>T (p.Phe1601=) c.2867C>T c.4680C>T (p.Phe1560=) c.4836C>T (p.Phe1612=) | |
12 | g.51806290C>A | CA384880272 | SCN8A | c.4804C>A (p.Leu1602Met) c.2868C>A c.4681C>A (p.Leu1561Met) c.4837C>A (p.Leu1613Met) | |
12 | g.51806290C>G | CA384880273 | SCN8A | c.4804C>G (p.Leu1602Val) c.2868C>G c.4681C>G (p.Leu1561Val) c.4837C>G (p.Leu1613Val) | |
12 | g.51806290C>T | CA479787991 | SCN8A | c.4804C>T (p.Leu1602=) c.2868C>T c.4681C>T (p.Leu1561=) c.4837C>T (p.Leu1613=) | |
12 | g.51806291T>A | CA384880274 | SCN8A | c.4805T>A (p.Leu1602Gln) c.2869T>A c.4682T>A (p.Leu1561Gln) c.4838T>A (p.Leu1613Gln) | |
12 | g.51806291T>C | CA384880275 | SCN8A | c.4805T>C (p.Leu1602Pro) c.2869T>C c.4682T>C (p.Leu1561Pro) c.4838T>C (p.Leu1613Pro) | |
12 | g.51806291T>G | CA384880276 | SCN8A | c.4805T>G (p.Leu1602Arg) c.2869T>G c.4682T>G (p.Leu1561Arg) c.4838T>G (p.Leu1613Arg) | |
12 | g.51806292G>A | CA6571872 | SCN8A | c.4806G>A (p.Leu1602=) c.2870G>A c.4683G>A (p.Leu1561=) c.4839G>A (p.Leu1613=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806292G>C | CA479787992 | SCN8A | c.4806G>C (p.Leu1602=) c.2870G>C c.4683G>C (p.Leu1561=) c.4839G>C (p.Leu1613=) | |
12 | g.51806292G= | CA2036192691 | SCN8A | c.4806G= (p.Leu1602=) c.2870G= c.4683G= (p.Leu1561=) c.4839G= (p.Leu1613=) | |
12 | g.51806292G>T | CA479787993 | SCN8A | c.4806G>T (p.Leu1602=) c.2870G>T c.4683G>T (p.Leu1561=) c.4839G>T (p.Leu1613=) | |
12 | g.51806293G>A | CA384880277 | SCN8A | c.4807G>A (p.Ala1603Thr) c.2871G>A c.4684G>A (p.Ala1562Thr) c.4840G>A (p.Ala1614Thr) | |
12 | g.51806293G>C | CA384880278 | SCN8A | c.4807G>C (p.Ala1603Pro) c.2871G>C c.4684G>C (p.Ala1562Pro) c.4840G>C (p.Ala1614Pro) | |
12 | g.51806293G>T | CA384880279 | SCN8A | c.4807G>T (p.Ala1603Ser) c.2871G>T c.4684G>T (p.Ala1562Ser) c.4840G>T (p.Ala1614Ser) | |
12 | g.51806294C>A | CA384880280 | SCN8A | c.4808C>A (p.Ala1603Glu) c.2872C>A c.4685C>A (p.Ala1562Glu) c.4841C>A (p.Ala1614Glu) | gnomAD v4 |
12 | g.51806294C>G | CA384880281 | SCN8A | c.4808C>G (p.Ala1603Gly) c.2872C>G c.4685C>G (p.Ala1562Gly) c.4841C>G (p.Ala1614Gly) | |
12 | g.51806294C>T | CA384880282 | SCN8A | c.4808C>T (p.Ala1603Val) c.2872C>T c.4685C>T (p.Ala1562Val) c.4841C>T (p.Ala1614Val) | gnomAD v4 |
12 | g.51806295A>C | CA479787994 | SCN8A | c.4809A>C (p.Ala1603=) c.2873A>C c.4686A>C (p.Ala1562=) c.4842A>C (p.Ala1614=) | |
12 | g.51806295A>G | CA479787995 | SCN8A | c.4809A>G (p.Ala1603=) c.2873A>G c.4686A>G (p.Ala1562=) c.4842A>G (p.Ala1614=) | COSMIC COSMIC |
12 | g.51806295A>T | CA479787996 | SCN8A | c.4809A>T (p.Ala1603=) c.2873A>T c.4686A>T (p.Ala1562=) c.4842A>T (p.Ala1614=) | |
12 | g.51806296G>A | CA384880285 | SCN8A | c.4810G>A (p.Asp1604Asn) c.2874G>A c.4687G>A (p.Asp1563Asn) c.4843G>A (p.Asp1615Asn) | |
12 | g.51806296G>C | CA384880284 | SCN8A | c.4810G>C (p.Asp1604His) c.2874G>C c.4687G>C (p.Asp1563His) c.4843G>C (p.Asp1615His) | |
12 | g.51806296G>T | CA384880283 | SCN8A | c.4810G>T (p.Asp1604Tyr) c.2874G>T c.4687G>T (p.Asp1563Tyr) c.4843G>T (p.Asp1615Tyr) | |
12 | g.51806297A>C | CA384880288 | SCN8A | c.4811A>C (p.Asp1604Ala) c.2875A>C c.4688A>C (p.Asp1563Ala) c.4844A>C (p.Asp1615Ala) | |
12 | g.51806297A>G | CA384880286 | SCN8A | c.4811A>G (p.Asp1604Gly) c.2875A>G c.4688A>G (p.Asp1563Gly) c.4844A>G (p.Asp1615Gly) | |
12 | g.51806297A>T | CA384880287 | SCN8A | c.4811A>T (p.Asp1604Val) c.2875A>T c.4688A>T (p.Asp1563Val) c.4844A>T (p.Asp1615Val) | |
12 | g.51806298T>A | CA384880289 | SCN8A | c.4812T>A (p.Asp1604Glu) c.2876T>A c.4689T>A (p.Asp1563Glu) c.4845T>A (p.Asp1615Glu) | |
12 | g.51806298T>C | CA479787997 | SCN8A | c.4812T>C (p.Asp1604=) c.2876T>C c.4689T>C (p.Asp1563=) c.4845T>C (p.Asp1615=) | dbSNP |
12 | g.51806298T>G | CA384880290 | SCN8A | c.4812T>G (p.Asp1604Glu) c.2876T>G c.4689T>G (p.Asp1563Glu) c.4845T>G (p.Asp1615Glu) | |
12 | g.51806298T= | CA2036192701 | SCN8A | c.4812T= (p.Asp1604=) c.2876T= c.4689T= (p.Asp1563=) c.4845T= (p.Asp1615=) | |
12 | g.51806299A= | CA2036192710 | SCN8A | c.4813A= (p.Ile1605=) c.2877A= c.4690A= (p.Ile1564=) c.4846A= (p.Ile1616=) | |
12 | g.51806299A>C | CA384880291 | SCN8A | c.4813A>C (p.Ile1605Leu) c.2877A>C c.4690A>C (p.Ile1564Leu) c.4846A>C (p.Ile1616Leu) | |
12 | g.51806299A>G | CA10586304 | SCN8A | c.4813A>G (p.Ile1605Val) c.2877A>G c.4690A>G (p.Ile1564Val) c.4846A>G (p.Ile1616Val) | ClinVar dbSNP |
12 | g.51806299A>T | CA384880292 | SCN8A | c.4813A>T (p.Ile1605Leu) c.2877A>T c.4690A>T (p.Ile1564Leu) c.4846A>T (p.Ile1616Leu) | |
12 | g.51806300T>A | CA384880293 | SCN8A | c.4814T>A (p.Ile1605Lys) c.2878T>A c.4691T>A (p.Ile1564Lys) c.4847T>A (p.Ile1616Lys) | |
12 | g.51806300T>C | CA384880295 | SCN8A | c.4814T>C (p.Ile1605Thr) c.2878T>C c.4691T>C (p.Ile1564Thr) c.4847T>C (p.Ile1616Thr) | ClinVar dbSNP |
12 | g.51806300T>G | CA384880294 | SCN8A | c.4814T>G (p.Ile1605Arg) c.2878T>G c.4691T>G (p.Ile1564Arg) c.4847T>G (p.Ile1616Arg) | |
12 | g.51806301A>C | CA479787998 | SCN8A | c.4815A>C (p.Ile1605=) c.2879A>C c.4692A>C (p.Ile1564=) c.4848A>C (p.Ile1616=) | |
12 | g.51806301A>G | CA384880296 | SCN8A | c.4815A>G (p.Ile1605Met) c.2879A>G c.4692A>G (p.Ile1564Met) c.4848A>G (p.Ile1616Met) | |
12 | g.51806301A>T | CA479787999 | SCN8A | c.4815A>T (p.Ile1605=) c.2879A>T c.4692A>T (p.Ile1564=) c.4848A>T (p.Ile1616=) | |
12 | g.51806302A>C | CA384880297 | SCN8A | c.4816A>C (p.Ile1606Leu) c.2880A>C c.4693A>C (p.Ile1565Leu) c.4849A>C (p.Ile1617Leu) | |
12 | g.51806302A>G | CA384880298 | SCN8A | c.4816A>G (p.Ile1606Val) c.2880A>G c.4693A>G (p.Ile1565Val) c.4849A>G (p.Ile1617Val) | |
12 | g.51806302A>T | CA384880299 | SCN8A | c.4816A>T (p.Ile1606Phe) c.2880A>T c.4693A>T (p.Ile1565Phe) c.4849A>T (p.Ile1617Phe) | |
12 | g.51806303T>A | CA384880300 | SCN8A | c.4817T>A (p.Ile1606Asn) c.2881T>A c.4694T>A (p.Ile1565Asn) c.4850T>A (p.Ile1617Asn) | |
12 | g.51806303T>C | CA384880302 | SCN8A | c.4817T>C (p.Ile1606Thr) c.2881T>C c.4694T>C (p.Ile1565Thr) c.4850T>C (p.Ile1617Thr) | ClinVar dbSNP |
12 | g.51806303T>G | CA384880301 | SCN8A | c.4817T>G (p.Ile1606Ser) c.2881T>G c.4694T>G (p.Ile1565Ser) c.4850T>G (p.Ile1617Ser) | |
12 | g.51806304T>A | CA479788000 | SCN8A | c.4818T>A (p.Ile1606=) c.2882T>A c.4695T>A (p.Ile1565=) c.4851T>A (p.Ile1617=) | |
12 | g.51806304T>C | CA479788001 | SCN8A | c.4818T>C (p.Ile1606=) c.2882T>C c.4695T>C (p.Ile1565=) c.4851T>C (p.Ile1617=) | |
12 | g.51806304T>G | CA384880303 | SCN8A | c.4818T>G (p.Ile1606Met) c.2882T>G c.4695T>G (p.Ile1565Met) c.4851T>G (p.Ile1617Met) | |
12 | g.51806305G>A | CA384880304 | SCN8A | c.4819G>A (p.Glu1607Lys) c.2883G>A c.4696G>A (p.Glu1566Lys) c.4852G>A (p.Glu1618Lys) | ClinVar dbSNP COSMIC COSMIC |
12 | g.51806305G>C | CA384880305 | SCN8A | c.4819G>C (p.Glu1607Gln) c.2883G>C c.4696G>C (p.Glu1566Gln) c.4852G>C (p.Glu1618Gln) | COSMIC COSMIC |
12 | g.51806305G= | CA2036192718 | SCN8A | c.4819G= (p.Glu1607=) c.2883G= c.4696G= (p.Glu1566=) c.4852G= (p.Glu1618=) | |
12 | g.51806305G>T | CA384880306 | SCN8A | c.4819G>T (p.Glu1607Ter) c.2883G>T c.4696G>T (p.Glu1566Ter) c.4852G>T (p.Glu1618Ter) | dbSNP |
12 | g.51806306A>C | CA384880307 | SCN8A | c.4820A>C (p.Glu1607Ala) c.2884A>C c.4697A>C (p.Glu1566Ala) c.4853A>C (p.Glu1618Ala) | |
12 | g.51806306A>G | CA384880308 | SCN8A | c.4820A>G (p.Glu1607Gly) c.2884A>G c.4697A>G (p.Glu1566Gly) c.4853A>G (p.Glu1618Gly) | |
12 | g.51806306A>T | CA384880309 | SCN8A | c.4820A>T (p.Glu1607Val) c.2884A>T c.4697A>T (p.Glu1566Val) c.4853A>T (p.Glu1618Val) | |
12 | g.51806307G>A | CA479788003 | SCN8A | c.4821G>A (p.Glu1607=) c.2885G>A c.4698G>A (p.Glu1566=) c.4854G>A (p.Glu1618=) | |
12 | g.51806307G>C | CA384880310 | SCN8A | c.4821G>C (p.Glu1607Asp) c.2885G>C c.4698G>C (p.Glu1566Asp) c.4854G>C (p.Glu1618Asp) | |
12 | g.51806307G>T | CA384880311 | SCN8A | c.4821G>T (p.Glu1607Asp) c.2885G>T c.4698G>T (p.Glu1566Asp) c.4854G>T (p.Glu1618Asp) | |
12 | g.51806308A>C | CA384880312 | SCN8A | c.4822A>C (p.Lys1608Gln) c.2886A>C c.4699A>C (p.Lys1567Gln) c.4855A>C (p.Lys1619Gln) | |
12 | g.51806308A>G | CA384880313 | SCN8A | c.4822A>G (p.Lys1608Glu) c.2886A>G c.4699A>G (p.Lys1567Glu) c.4855A>G (p.Lys1619Glu) | |
12 | g.51806308A>T | CA384880314 | SCN8A | c.4822A>T (p.Lys1608Ter) c.2886A>T c.4699A>T (p.Lys1567Ter) c.4855A>T (p.Lys1619Ter) | |
12 | g.51806309A>C | CA384880317 | SCN8A | c.4823A>C (p.Lys1608Thr) c.2887A>C c.4700A>C (p.Lys1567Thr) c.4856A>C (p.Lys1619Thr) | gnomAD v4 |
12 | g.51806309A>G | CA384880316 | SCN8A | c.4823A>G (p.Lys1608Arg) c.2887A>G c.4700A>G (p.Lys1567Arg) c.4856A>G (p.Lys1619Arg) | |
12 | g.51806309A>T | CA384880315 | SCN8A | c.4823A>T (p.Lys1608Ile) c.2887A>T c.4700A>T (p.Lys1567Ile) c.4856A>T (p.Lys1619Ile) |