Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166277181G>A | CA59794658 | SCN1A-AS1,SCN9A | c.2676C>T (p.Tyr892=) c.2643C>T (p.Tyr881=) c.333C>T (p.Tyr111=) c.1678C>T n.963G>A c.2289C>T (p.Tyr763=) c.1932C>T (p.Tyr644=) n.2990C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277181G>C | CA349077823 | SCN1A-AS1,SCN9A | c.2676C>G (p.Tyr892Ter) c.2643C>G (p.Tyr881Ter) c.333C>G (p.Tyr111Ter) c.1678C>G n.963G>C c.2289C>G (p.Tyr763Ter) c.1932C>G (p.Tyr644Ter) n.2990C>G | |
2 | g.166277181G= | CA1304965094 | SCN1A-AS1,SCN9A | c.2676C= (p.Tyr892=) c.2643C= (p.Tyr881=) c.333C= (p.Tyr111=) c.1678C= n.963G= c.2289C= (p.Tyr763=) c.1932C= (p.Tyr644=) n.2990C= | |
2 | g.166277181G>T | CA349077824 | SCN1A-AS1,SCN9A | c.2676C>A (p.Tyr892Ter) c.2643C>A (p.Tyr881Ter) c.333C>A (p.Tyr111Ter) c.1678C>A n.963G>T c.2289C>A (p.Tyr763Ter) c.1932C>A (p.Tyr644Ter) n.2990C>A | |
2 | g.166277182T>A | CA349077825 | SCN1A-AS1,SCN9A | c.2675A>T (p.Tyr892Phe) c.2642A>T (p.Tyr881Phe) c.332A>T (p.Tyr111Phe) c.1677A>T n.964T>A c.2288A>T (p.Tyr763Phe) c.1931A>T (p.Tyr644Phe) n.2989A>T | |
2 | g.166277182T>C | CA349077826 | SCN1A-AS1,SCN9A | c.2675A>G (p.Tyr892Cys) c.2642A>G (p.Tyr881Cys) c.332A>G (p.Tyr111Cys) c.1677A>G n.964T>C c.2288A>G (p.Tyr763Cys) c.1931A>G (p.Tyr644Cys) n.2989A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277182T>G | CA349077827 | SCN1A-AS1,SCN9A | c.2675A>C (p.Tyr892Ser) c.2642A>C (p.Tyr881Ser) c.332A>C (p.Tyr111Ser) c.1677A>C n.964T>G c.2288A>C (p.Tyr763Ser) c.1931A>C (p.Tyr644Ser) n.2989A>C | |
2 | g.166277182T= | CA1304965103 | SCN1A-AS1,SCN9A | c.2675A= (p.Tyr892=) c.2642A= (p.Tyr881=) c.332A= (p.Tyr111=) c.1677A= n.964T= c.2288A= (p.Tyr763=) c.1931A= (p.Tyr644=) n.2989A= | |
2 | g.166277183A>C | CA349077828 | SCN1A-AS1,SCN9A | c.2674T>G (p.Tyr892Asp) c.2641T>G (p.Tyr881Asp) c.331T>G (p.Tyr111Asp) c.1676T>G n.965A>C c.2287T>G (p.Tyr763Asp) c.1930T>G (p.Tyr644Asp) n.2988T>G | |
2 | g.166277183A>G | CA349077829 | SCN1A-AS1,SCN9A | c.2674T>C (p.Tyr892His) c.2641T>C (p.Tyr881His) c.331T>C (p.Tyr111His) c.1676T>C n.965A>G c.2287T>C (p.Tyr763His) c.1930T>C (p.Tyr644His) n.2988T>C | |
2 | g.166277183A>T | CA349077830 | SCN1A-AS1,SCN9A | c.2674T>A (p.Tyr892Asn) c.2641T>A (p.Tyr881Asn) c.331T>A (p.Tyr111Asn) c.1676T>A n.965A>T c.2287T>A (p.Tyr763Asn) c.1930T>A (p.Tyr644Asn) n.2988T>A | |
2 | g.166277184G>A | CA429978334 | SCN1A-AS1,SCN9A | c.2673C>T (p.Ser891=) c.2640C>T (p.Ser880=) c.330C>T (p.Ser110=) c.1675C>T n.966G>A c.2286C>T (p.Ser762=) c.1929C>T (p.Ser643=) n.2987C>T | |
2 | g.166277184G>C | CA349077831 | SCN1A-AS1,SCN9A | c.2673C>G (p.Ser891Arg) c.2640C>G (p.Ser880Arg) c.330C>G (p.Ser110Arg) c.1675C>G n.966G>C c.2286C>G (p.Ser762Arg) c.1929C>G (p.Ser643Arg) n.2987C>G | |
2 | g.166277184G>T | CA349077832 | SCN1A-AS1,SCN9A | c.2673C>A (p.Ser891Arg) c.2640C>A (p.Ser880Arg) c.330C>A (p.Ser110Arg) c.1675C>A n.966G>T c.2286C>A (p.Ser762Arg) c.1929C>A (p.Ser643Arg) n.2987C>A | |
2 | g.166277185C>A | CA349077833 | SCN1A-AS1,SCN9A | c.2672G>T (p.Ser891Ile) c.2639G>T (p.Ser880Ile) c.329G>T (p.Ser110Ile) c.1674G>T n.967C>A c.2285G>T (p.Ser762Ile) c.1928G>T (p.Ser643Ile) n.2986G>T | |
2 | g.166277185C>G | CA349077834 | SCN1A-AS1,SCN9A | c.2672G>C (p.Ser891Thr) c.2639G>C (p.Ser880Thr) c.329G>C (p.Ser110Thr) c.1674G>C n.967C>G c.2285G>C (p.Ser762Thr) c.1928G>C (p.Ser643Thr) n.2986G>C | |
2 | g.166277185C>T | CA349077835 | SCN1A-AS1,SCN9A | c.2672G>A (p.Ser891Asn) c.2639G>A (p.Ser880Asn) c.329G>A (p.Ser110Asn) c.1674G>A n.967C>T c.2285G>A (p.Ser762Asn) c.1928G>A (p.Ser643Asn) n.2986G>A | |
2 | g.166277186T>A | CA349077836 | SCN1A-AS1,SCN9A | c.2671A>T (p.Ser891Cys) c.2638A>T (p.Ser880Cys) c.328A>T (p.Ser110Cys) c.1673A>T n.968T>A c.2284A>T (p.Ser762Cys) c.1927A>T (p.Ser643Cys) n.2985A>T | |
2 | g.166277186T>C | CA1944220 | SCN1A-AS1,SCN9A | c.2671A>G (p.Ser891Gly) c.2638A>G (p.Ser880Gly) c.328A>G (p.Ser110Gly) c.1673A>G n.968T>C c.2284A>G (p.Ser762Gly) c.1927A>G (p.Ser643Gly) n.2985A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277186T>G | CA349077837 | SCN1A-AS1,SCN9A | c.2671A>C (p.Ser891Arg) c.2638A>C (p.Ser880Arg) c.328A>C (p.Ser110Arg) c.1673A>C n.968T>G c.2284A>C (p.Ser762Arg) c.1927A>C (p.Ser643Arg) n.2985A>C | |
2 | g.166277186T= | CA1304965108 | SCN1A-AS1,SCN9A | c.2671A= (p.Ser891=) c.2638A= (p.Ser880=) c.328A= (p.Ser110=) c.1673A= n.968T= c.2284A= (p.Ser762=) c.1927A= (p.Ser643=) n.2985A= | |
2 | g.166277187C>A | CA349077839 | SCN1A-AS1,SCN9A | c.2670G>T (p.Lys890Asn) c.2637G>T (p.Lys879Asn) c.327G>T (p.Lys109Asn) c.1672G>T n.969C>A c.2283G>T (p.Lys761Asn) c.1926G>T (p.Lys642Asn) n.2984G>T | |
2 | g.166277187C>G | CA349077838 | SCN1A-AS1,SCN9A | c.2670G>C (p.Lys890Asn) c.2637G>C (p.Lys879Asn) c.327G>C (p.Lys109Asn) c.1672G>C n.969C>G c.2283G>C (p.Lys761Asn) c.1926G>C (p.Lys642Asn) n.2984G>C | |
2 | g.166277187C>T | CA429978338 | SCN1A-AS1,SCN9A | c.2670G>A (p.Lys890=) c.2637G>A (p.Lys879=) c.327G>A (p.Lys109=) c.1672G>A n.969C>T c.2283G>A (p.Lys761=) c.1926G>A (p.Lys642=) n.2984G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.166277188T>A | CA349077840 | SCN1A-AS1,SCN9A | c.2669A>T (p.Lys890Met) c.2636A>T (p.Lys879Met) c.326A>T (p.Lys109Met) c.1671A>T n.970T>A c.2282A>T (p.Lys761Met) c.1925A>T (p.Lys642Met) n.2983A>T | |
2 | g.166277188T>C | CA349077841 | SCN1A-AS1,SCN9A | c.2669A>G (p.Lys890Arg) c.2636A>G (p.Lys879Arg) c.326A>G (p.Lys109Arg) c.1671A>G n.970T>C c.2282A>G (p.Lys761Arg) c.1925A>G (p.Lys642Arg) n.2983A>G | |
2 | g.166277188T>G | CA349077842 | SCN1A-AS1,SCN9A | c.2669A>C (p.Lys890Thr) c.2636A>C (p.Lys879Thr) c.326A>C (p.Lys109Thr) c.1671A>C n.970T>G c.2282A>C (p.Lys761Thr) c.1925A>C (p.Lys642Thr) n.2983A>C | |
2 | g.166277189T>A | CA349077843 | SCN1A-AS1,SCN9A | c.2668A>T (p.Lys890Ter) c.2635A>T (p.Lys879Ter) c.325A>T (p.Lys109Ter) c.1670A>T n.971T>A c.2281A>T (p.Lys761Ter) c.1924A>T (p.Lys642Ter) n.2982A>T | |
2 | g.166277189T>C | CA349077844 | SCN1A-AS1,SCN9A | c.2668A>G (p.Lys890Glu) c.2635A>G (p.Lys879Glu) c.325A>G (p.Lys109Glu) c.1670A>G n.971T>C c.2281A>G (p.Lys761Glu) c.1924A>G (p.Lys642Glu) n.2982A>G | |
2 | g.166277189T>G | CA349077845 | SCN1A-AS1,SCN9A | c.2668A>C (p.Lys890Gln) c.2635A>C (p.Lys879Gln) c.325A>C (p.Lys109Gln) c.1670A>C n.971T>G c.2281A>C (p.Lys761Gln) c.1924A>C (p.Lys642Gln) n.2982A>C | |
2 | g.166277190A>C | CA429978340 | SCN1A-AS1,SCN9A | c.2667T>G (p.Gly889=) c.2634T>G (p.Gly878=) c.324T>G (p.Gly108=) c.1669T>G n.972A>C c.2280T>G (p.Gly760=) c.1923T>G (p.Gly641=) n.2981T>G | |
2 | g.166277190A>G | CA429978341 | SCN1A-AS1,SCN9A | c.2667T>C (p.Gly889=) c.2634T>C (p.Gly878=) c.324T>C (p.Gly108=) c.1669T>C n.972A>G c.2280T>C (p.Gly760=) c.1923T>C (p.Gly641=) n.2981T>C | gnomAD v4 |
2 | g.166277190A>T | CA429978342 | SCN1A-AS1,SCN9A | c.2667T>A (p.Gly889=) c.2634T>A (p.Gly878=) c.324T>A (p.Gly108=) c.1669T>A n.972A>T c.2280T>A (p.Gly760=) c.1923T>A (p.Gly641=) n.2981T>A | |
2 | g.166277190dup | CA2499215221 | SCN1A-AS1,SCN9A | c.2667dup (p.Lys890Ter) c.2634dup (p.Lys879Ter) c.324dup (p.Lys109Ter) c.1669dup n.972dup c.2280dup (p.Lys761Ter) c.1923dup (p.Lys642Ter) n.2981dup | ClinVar dbSNP |
2 | g.166277191C>A | CA1944221 | SCN1A-AS1,SCN9A | c.2666G>T (p.Gly889Val) c.2633G>T (p.Gly878Val) c.323G>T (p.Gly108Val) c.1668G>T n.973C>A c.2279G>T (p.Gly760Val) c.1922G>T (p.Gly641Val) n.2980G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277191C= | CA1304965114 | SCN1A-AS1,SCN9A | c.2666G= (p.Gly889=) c.2633G= (p.Gly878=) c.323G= (p.Gly108=) c.1668G= n.973C= c.2279G= (p.Gly760=) c.1922G= (p.Gly641=) n.2980G= | |
2 | g.166277191C>G | CA349077846 | SCN1A-AS1,SCN9A | c.2666G>C (p.Gly889Ala) c.2633G>C (p.Gly878Ala) c.323G>C (p.Gly108Ala) c.1668G>C n.973C>G c.2279G>C (p.Gly760Ala) c.1922G>C (p.Gly641Ala) n.2980G>C | gnomAD v4 |
2 | g.166277191C>T | CA349077847 | SCN1A-AS1,SCN9A | c.2666G>A (p.Gly889Asp) c.2633G>A (p.Gly878Asp) c.323G>A (p.Gly108Asp) c.1668G>A n.973C>T c.2279G>A (p.Gly760Asp) c.1922G>A (p.Gly641Asp) n.2980G>A | |
2 | g.166277192C>A | CA349077848 | SCN1A-AS1,SCN9A | c.2665G>T (p.Gly889Cys) c.2632G>T (p.Gly878Cys) c.322G>T (p.Gly108Cys) c.1667G>T n.974C>A c.2278G>T (p.Gly760Cys) c.1921G>T (p.Gly641Cys) n.2979G>T | |
2 | g.166277192C>G | CA349077849 | SCN1A-AS1,SCN9A | c.2665G>C (p.Gly889Arg) c.2632G>C (p.Gly878Arg) c.322G>C (p.Gly108Arg) c.1667G>C n.974C>G c.2278G>C (p.Gly760Arg) c.1921G>C (p.Gly641Arg) n.2979G>C | gnomAD v4 |
2 | g.166277192C>T | CA349077850 | SCN1A-AS1,SCN9A | c.2665G>A (p.Gly889Ser) c.2632G>A (p.Gly878Ser) c.322G>A (p.Gly108Ser) c.1667G>A n.974C>T c.2278G>A (p.Gly760Ser) c.1921G>A (p.Gly641Ser) n.2979G>A | |
2 | g.166277193A= | CA1304965122 | SCN1A-AS1,SCN9A | c.2664T= (p.Phe888=) c.2631T= (p.Phe877=) c.321T= (p.Phe107=) c.1666T= n.975A= c.2277T= (p.Phe759=) c.1920T= (p.Phe640=) n.2978T= | |
2 | g.166277193A>C | CA349077851 | SCN1A-AS1,SCN9A | c.2664T>G (p.Phe888Leu) c.2631T>G (p.Phe877Leu) c.321T>G (p.Phe107Leu) c.1666T>G n.975A>C c.2277T>G (p.Phe759Leu) c.1920T>G (p.Phe640Leu) n.2978T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277193A>G | CA429978345 | SCN1A-AS1,SCN9A | c.2664T>C (p.Phe888=) c.2631T>C (p.Phe877=) c.321T>C (p.Phe107=) c.1666T>C n.975A>G c.2277T>C (p.Phe759=) c.1920T>C (p.Phe640=) n.2978T>C | |
2 | g.166277193A>T | CA349077852 | SCN1A-AS1,SCN9A | c.2664T>A (p.Phe888Leu) c.2631T>A (p.Phe877Leu) c.321T>A (p.Phe107Leu) c.1666T>A n.975A>T c.2277T>A (p.Phe759Leu) c.1920T>A (p.Phe640Leu) n.2978T>A | |
2 | g.166277194A>C | CA349077853 | SCN1A-AS1,SCN9A | c.2663T>G (p.Phe888Cys) c.2630T>G (p.Phe877Cys) c.320T>G (p.Phe107Cys) c.1665T>G n.976A>C c.2276T>G (p.Phe759Cys) c.1919T>G (p.Phe640Cys) n.2977T>G | |
2 | g.166277194A>G | CA349077855 | SCN1A-AS1,SCN9A | c.2663T>C (p.Phe888Ser) c.2630T>C (p.Phe877Ser) c.320T>C (p.Phe107Ser) c.1665T>C n.976A>G c.2276T>C (p.Phe759Ser) c.1919T>C (p.Phe640Ser) n.2977T>C | |
2 | g.166277194A>T | CA349077854 | SCN1A-AS1,SCN9A | c.2663T>A (p.Phe888Tyr) c.2630T>A (p.Phe877Tyr) c.320T>A (p.Phe107Tyr) c.1665T>A n.976A>T c.2276T>A (p.Phe759Tyr) c.1919T>A (p.Phe640Tyr) n.2977T>A | |
2 | g.166277195A>C | CA349077856 | SCN1A-AS1,SCN9A | c.2662T>G (p.Phe888Val) c.2629T>G (p.Phe877Val) c.319T>G (p.Phe107Val) c.1664T>G n.977A>C c.2275T>G (p.Phe759Val) c.1918T>G (p.Phe640Val) n.2976T>G | |
2 | g.166277195A>G | CA349077857 | SCN1A-AS1,SCN9A | c.2662T>C (p.Phe888Leu) c.2629T>C (p.Phe877Leu) c.319T>C (p.Phe107Leu) c.1664T>C n.977A>G c.2275T>C (p.Phe759Leu) c.1918T>C (p.Phe640Leu) n.2976T>C |