Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166277228C>A | CA1944230 | SCN1A-AS1,SCN9A | c.2629G>T (p.Val877Phe) c.2596G>T (p.Val866Phe) c.286G>T (p.Val96Phe) c.1631G>T n.1010C>A c.2242G>T (p.Val748Phe) c.1885G>T (p.Val629Phe) n.2943G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277228C= | CA1304965272 | SCN1A-AS1,SCN9A | c.2629G= (p.Val877=) c.2596G= (p.Val866=) c.286G= (p.Val96=) c.1631G= n.1010C= c.2242G= (p.Val748=) c.1885G= (p.Val629=) n.2943G= | |
2 | g.166277228C>G | CA349077927 | SCN1A-AS1,SCN9A | c.2629G>C (p.Val877Leu) c.2596G>C (p.Val866Leu) c.286G>C (p.Val96Leu) c.1631G>C n.1010C>G c.2242G>C (p.Val748Leu) c.1885G>C (p.Val629Leu) n.2943G>C | gnomAD v4 |
2 | g.166277228C>T | CA1944229 | SCN1A-AS1,SCN9A | c.2629G>A (p.Val877Ile) c.2596G>A (p.Val866Ile) c.286G>A (p.Val96Ile) c.1631G>A n.1010C>T c.2242G>A (p.Val748Ile) c.1885G>A (p.Val629Ile) n.2943G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277229G>A | CA1944231 | SCN1A-AS1,SCN9A | c.2628C>T (p.Ile876=) c.2595C>T (p.Ile865=) c.285C>T (p.Ile95=) c.1630C>T n.1011G>A c.2241C>T (p.Ile747=) c.1884C>T (p.Ile628=) n.2942C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277229G>C | CA349077928 | SCN1A-AS1,SCN9A | c.2628C>G (p.Ile876Met) c.2595C>G (p.Ile865Met) c.285C>G (p.Ile95Met) c.1630C>G n.1011G>C c.2241C>G (p.Ile747Met) c.1884C>G (p.Ile628Met) n.2942C>G | |
2 | g.166277229G= | CA1304965284 | SCN1A-AS1,SCN9A | c.2628C= (p.Ile876=) c.2595C= (p.Ile865=) c.285C= (p.Ile95=) c.1630C= n.1011G= c.2241C= (p.Ile747=) c.1884C= (p.Ile628=) n.2942C= | |
2 | g.166277229G>T | CA429978397 | SCN1A-AS1,SCN9A | c.2628C>A (p.Ile876=) c.2595C>A (p.Ile865=) c.285C>A (p.Ile95=) c.1630C>A n.1011G>T c.2241C>A (p.Ile747=) c.1884C>A (p.Ile628=) n.2942C>A | |
2 | g.166277230A>C | CA349077929 | SCN1A-AS1,SCN9A | c.2627T>G (p.Ile876Ser) c.2594T>G (p.Ile865Ser) c.284T>G (p.Ile95Ser) c.1629T>G n.1012A>C c.2240T>G (p.Ile747Ser) c.1883T>G (p.Ile628Ser) n.2941T>G | |
2 | g.166277230A>G | CA349077930 | SCN1A-AS1,SCN9A | c.2627T>C (p.Ile876Thr) c.2594T>C (p.Ile865Thr) c.284T>C (p.Ile95Thr) c.1629T>C n.1012A>G c.2240T>C (p.Ile747Thr) c.1883T>C (p.Ile628Thr) n.2941T>C | |
2 | g.166277230A>T | CA349077931 | SCN1A-AS1,SCN9A | c.2627T>A (p.Ile876Asn) c.2594T>A (p.Ile865Asn) c.284T>A (p.Ile95Asn) c.1629T>A n.1012A>T c.2240T>A (p.Ile747Asn) c.1883T>A (p.Ile628Asn) n.2941T>A | |
2 | g.166277231T>A | CA349077932 | SCN1A-AS1,SCN9A | c.2626A>T (p.Ile876Phe) c.2593A>T (p.Ile865Phe) c.283A>T (p.Ile95Phe) c.1628A>T n.1013T>A c.2239A>T (p.Ile747Phe) c.1882A>T (p.Ile628Phe) n.2940A>T | |
2 | g.166277231T>C | CA349077933 | SCN1A-AS1,SCN9A | c.2626A>G (p.Ile876Val) c.2593A>G (p.Ile865Val) c.283A>G (p.Ile95Val) c.1628A>G n.1013T>C c.2239A>G (p.Ile747Val) c.1882A>G (p.Ile628Val) n.2940A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277231T>G | CA349077934 | SCN1A-AS1,SCN9A | c.2626A>C (p.Ile876Leu) c.2593A>C (p.Ile865Leu) c.283A>C (p.Ile95Leu) c.1628A>C n.1013T>G c.2239A>C (p.Ile747Leu) c.1882A>C (p.Ile628Leu) n.2940A>C | |
2 | g.166277231T= | CA1304965288 | SCN1A-AS1,SCN9A | c.2626A= (p.Ile876=) c.2593A= (p.Ile865=) c.283A= (p.Ile95=) c.1628A= n.1013T= c.2239A= (p.Ile747=) c.1882A= (p.Ile628=) n.2940A= | |
2 | g.166277232G>A | CA429978400 | SCN1A-AS1,SCN9A | c.2625C>T (p.Ile875=) c.2592C>T (p.Ile864=) c.282C>T (p.Ile94=) c.1627C>T n.1014G>A c.2238C>T (p.Ile746=) c.1881C>T (p.Ile627=) n.2939C>T | COSMIC COSMIC |
2 | g.166277232G>C | CA349077935 | SCN1A-AS1,SCN9A | c.2625C>G (p.Ile875Met) c.2592C>G (p.Ile864Met) c.282C>G (p.Ile94Met) c.1627C>G n.1014G>C c.2238C>G (p.Ile746Met) c.1881C>G (p.Ile627Met) n.2939C>G | |
2 | g.166277232G>T | CA429978399 | SCN1A-AS1,SCN9A | c.2625C>A (p.Ile875=) c.2592C>A (p.Ile864=) c.282C>A (p.Ile94=) c.1627C>A n.1014G>T c.2238C>A (p.Ile746=) c.1881C>A (p.Ile627=) n.2939C>A | |
2 | g.166277233A>C | CA349077936 | SCN1A-AS1,SCN9A | c.2624T>G (p.Ile875Ser) c.2591T>G (p.Ile864Ser) c.281T>G (p.Ile94Ser) c.1626T>G n.1015A>C c.2237T>G (p.Ile746Ser) c.1880T>G (p.Ile627Ser) n.2938T>G | |
2 | g.166277233A>G | CA349077938 | SCN1A-AS1,SCN9A | c.2624T>C (p.Ile875Thr) c.2591T>C (p.Ile864Thr) c.281T>C (p.Ile94Thr) c.1626T>C n.1015A>G c.2237T>C (p.Ile746Thr) c.1880T>C (p.Ile627Thr) n.2938T>C | COSMIC |
2 | g.166277233A>T | CA349077937 | SCN1A-AS1,SCN9A | c.2624T>A (p.Ile875Asn) c.2591T>A (p.Ile864Asn) c.281T>A (p.Ile94Asn) c.1626T>A n.1015A>T c.2237T>A (p.Ile746Asn) c.1880T>A (p.Ile627Asn) n.2938T>A | |
2 | g.166277234T>A | CA349077939 | SCN1A-AS1,SCN9A | c.2623A>T (p.Ile875Phe) c.2590A>T (p.Ile864Phe) c.280A>T (p.Ile94Phe) c.1625A>T n.1016T>A c.2236A>T (p.Ile746Phe) c.1879A>T (p.Ile627Phe) n.2937A>T | gnomAD v4 |
2 | g.166277234T>C | CA349077941 | SCN1A-AS1,SCN9A | c.2623A>G (p.Ile875Val) c.2590A>G (p.Ile864Val) c.280A>G (p.Ile94Val) c.1625A>G n.1016T>C c.2236A>G (p.Ile746Val) c.1879A>G (p.Ile627Val) n.2937A>G | gnomAD v4 |
2 | g.166277234T>G | CA349077940 | SCN1A-AS1,SCN9A | c.2623A>C (p.Ile875Leu) c.2590A>C (p.Ile864Leu) c.280A>C (p.Ile94Leu) c.1625A>C n.1016T>G c.2236A>C (p.Ile746Leu) c.1879A>C (p.Ile627Leu) n.2937A>C | |
2 | g.166277235G>A | CA1944232 | SCN1A-AS1,SCN9A | c.2622C>T (p.Ala874=) c.2589C>T (p.Ala863=) c.279C>T (p.Ala93=) c.1624C>T n.1017G>A c.2235C>T (p.Ala745=) c.1878C>T (p.Ala626=) n.2936C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277235G>C | CA429978403 | SCN1A-AS1,SCN9A | c.2622C>G (p.Ala874=) c.2589C>G (p.Ala863=) c.279C>G (p.Ala93=) c.1624C>G n.1017G>C c.2235C>G (p.Ala745=) c.1878C>G (p.Ala626=) n.2936C>G | |
2 | g.166277235G= | CA1304965295 | SCN1A-AS1,SCN9A | c.2622C= (p.Ala874=) c.2589C= (p.Ala863=) c.279C= (p.Ala93=) c.1624C= n.1017G= c.2235C= (p.Ala745=) c.1878C= (p.Ala626=) n.2936C= | |
2 | g.166277235G>T | CA429978404 | SCN1A-AS1,SCN9A | c.2622C>A (p.Ala874=) c.2589C>A (p.Ala863=) c.279C>A (p.Ala93=) c.1624C>A n.1017G>T c.2235C>A (p.Ala745=) c.1878C>A (p.Ala626=) n.2936C>A | |
2 | g.166277236G>A | CA59794752 | SCN1A-AS1,SCN9A | c.2621C>T (p.Ala874Val) c.2588C>T (p.Ala863Val) c.278C>T (p.Ala93Val) c.1623C>T n.1018G>A c.2234C>T (p.Ala745Val) c.1877C>T (p.Ala626Val) n.2935C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166277236G>C | CA349077942 | SCN1A-AS1,SCN9A | c.2621C>G (p.Ala874Gly) c.2588C>G (p.Ala863Gly) c.278C>G (p.Ala93Gly) c.1623C>G n.1018G>C c.2234C>G (p.Ala745Gly) c.1877C>G (p.Ala626Gly) n.2935C>G | |
2 | g.166277236G= | CA1304965300 | SCN1A-AS1,SCN9A | c.2621C= (p.Ala874=) c.2588C= (p.Ala863=) c.278C= (p.Ala93=) c.1623C= n.1018G= c.2234C= (p.Ala745=) c.1877C= (p.Ala626=) n.2935C= | |
2 | g.166277236G>T | CA349077943 | SCN1A-AS1,SCN9A | c.2621C>A (p.Ala874Asp) c.2588C>A (p.Ala863Asp) c.278C>A (p.Ala93Asp) c.1623C>A n.1018G>T c.2234C>A (p.Ala745Asp) c.1877C>A (p.Ala626Asp) n.2935C>A | |
2 | g.166277237C>A | CA1944233 | SCN1A-AS1,SCN9A | c.2620G>T (p.Ala874Ser) c.2587G>T (p.Ala863Ser) c.277G>T (p.Ala93Ser) c.1622G>T n.1019C>A c.2233G>T (p.Ala745Ser) c.1876G>T (p.Ala626Ser) n.2934G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277237C= | CA1304965311 | SCN1A-AS1,SCN9A | c.2620G= (p.Ala874=) c.2587G= (p.Ala863=) c.277G= (p.Ala93=) c.1622G= n.1019C= c.2233G= (p.Ala745=) c.1876G= (p.Ala626=) n.2934G= | |
2 | g.166277237C>G | CA341936 | SCN1A-AS1,SCN9A | c.2620G>C (p.Ala874Pro) c.2587G>C (p.Ala863Pro) c.277G>C (p.Ala93Pro) c.1622G>C n.1019C>G c.2233G>C (p.Ala745Pro) c.1876G>C (p.Ala626Pro) n.2934G>C | ClinVar dbSNP |
2 | g.166277237C>T | CA349077944 | SCN1A-AS1,SCN9A | c.2620G>A (p.Ala874Thr) c.2587G>A (p.Ala863Thr) c.277G>A (p.Ala93Thr) c.1622G>A n.1019C>T c.2233G>A (p.Ala745Thr) c.1876G>A (p.Ala626Thr) n.2934G>A | dbSNP |
2 | g.166277238C>A | CA349077945 | SCN1A-AS1,SCN9A | c.2619G>T (p.Leu873Phe) c.2586G>T (p.Leu862Phe) c.276G>T (p.Leu92Phe) c.1621G>T n.1020C>A c.2232G>T (p.Leu744Phe) c.1875G>T (p.Leu625Phe) n.2933G>T | |
2 | g.166277238C>G | CA349077946 | SCN1A-AS1,SCN9A | c.2619G>C (p.Leu873Phe) c.2586G>C (p.Leu862Phe) c.276G>C (p.Leu92Phe) c.1621G>C n.1020C>G c.2232G>C (p.Leu744Phe) c.1875G>C (p.Leu625Phe) n.2933G>C | |
2 | g.166277238C>T | CA429978408 | SCN1A-AS1,SCN9A | c.2619G>A (p.Leu873=) c.2586G>A (p.Leu862=) c.276G>A (p.Leu92=) c.1621G>A n.1020C>T c.2232G>A (p.Leu744=) c.1875G>A (p.Leu625=) n.2933G>A | ClinVar dbSNP |
2 | g.166277239A= | CA1304965321 | SCN1A-AS1,SCN9A | c.2618T= (p.Leu873=) c.2585T= (p.Leu862=) c.275T= (p.Leu92=) c.1620T= n.1021A= c.2231T= (p.Leu744=) c.1874T= (p.Leu625=) n.2932T= | |
2 | g.166277239A>C | CA349077947 | SCN1A-AS1,SCN9A | c.2618T>G (p.Leu873Trp) c.2585T>G (p.Leu862Trp) c.275T>G (p.Leu92Trp) c.1620T>G n.1021A>C c.2231T>G (p.Leu744Trp) c.1874T>G (p.Leu625Trp) n.2932T>G | |
2 | g.166277239A>G | CA349077948 | SCN1A-AS1,SCN9A | c.2618T>C (p.Leu873Ser) c.2585T>C (p.Leu862Ser) c.275T>C (p.Leu92Ser) c.1620T>C n.1021A>G c.2231T>C (p.Leu744Ser) c.1874T>C (p.Leu625Ser) n.2932T>C | |
2 | g.166277239A>T | CA349077949 | SCN1A-AS1,SCN9A | c.2618T>A (p.Leu873Ter) c.2585T>A (p.Leu862Ter) c.275T>A (p.Leu92Ter) c.1620T>A n.1021A>T c.2231T>A (p.Leu744Ter) c.1874T>A (p.Leu625Ter) n.2932T>A | dbSNP |
2 | g.166277240A>C | CA349077951 | SCN1A-AS1,SCN9A | c.2617T>G (p.Leu873Val) c.2584T>G (p.Leu862Val) c.274T>G (p.Leu92Val) c.1619T>G n.1022A>C c.2230T>G (p.Leu744Val) c.1873T>G (p.Leu625Val) n.2931T>G | |
2 | g.166277240A>G | CA429978413 | SCN1A-AS1,SCN9A | c.2617T>C (p.Leu873=) c.2584T>C (p.Leu862=) c.274T>C (p.Leu92=) c.1619T>C n.1022A>G c.2230T>C (p.Leu744=) c.1873T>C (p.Leu625=) n.2931T>C | gnomAD v4 COSMIC COSMIC |
2 | g.166277240A>T | CA349077950 | SCN1A-AS1,SCN9A | c.2617T>A (p.Leu873Met) c.2584T>A (p.Leu862Met) c.274T>A (p.Leu92Met) c.1619T>A n.1022A>T c.2230T>A (p.Leu744Met) c.1873T>A (p.Leu625Met) n.2931T>A | |
2 | g.166277241C>A | CA429978414 | SCN1A-AS1,SCN9A | c.2616G>T (p.Val872=) c.2583G>T (p.Val861=) c.273G>T (p.Val91=) c.1618G>T n.1023C>A c.2229G>T (p.Val743=) c.1872G>T (p.Val624=) n.2930G>T | |
2 | g.166277241C= | CA1304965326 | SCN1A-AS1,SCN9A | c.2616G= (p.Val872=) c.2583G= (p.Val861=) c.273G= (p.Val91=) c.1618G= n.1023C= c.2229G= (p.Val743=) c.1872G= (p.Val624=) n.2930G= | |
2 | g.166277241C>G | CA429978415 | SCN1A-AS1,SCN9A | c.2616G>C (p.Val872=) c.2583G>C (p.Val861=) c.273G>C (p.Val91=) c.1618G>C n.1023C>G c.2229G>C (p.Val743=) c.1872G>C (p.Val624=) n.2930G>C | |
2 | g.166277241C>T | CA429978416 | SCN1A-AS1,SCN9A | c.2616G>A (p.Val872=) c.2583G>A (p.Val861=) c.273G>A (p.Val91=) c.1618G>A n.1023C>T c.2229G>A (p.Val743=) c.1872G>A (p.Val624=) n.2930G>A | ClinVar dbSNP gnomAD v4 |
2 | g.166277242A>C | CA349077952 | SCN1A-AS1,SCN9A | c.2615T>G (p.Val872Gly) c.2582T>G (p.Val861Gly) c.272T>G (p.Val91Gly) c.1617T>G n.1024A>C c.2228T>G (p.Val743Gly) c.1871T>G (p.Val624Gly) n.2929T>G | |
2 | g.166277242A>G | CA349077953 | SCN1A-AS1,SCN9A | c.2615T>C (p.Val872Ala) c.2582T>C (p.Val861Ala) c.272T>C (p.Val91Ala) c.1617T>C n.1024A>G c.2228T>C (p.Val743Ala) c.1871T>C (p.Val624Ala) n.2929T>C | |
2 | g.166277242A>T | CA349077954 | SCN1A-AS1,SCN9A | c.2615T>A (p.Val872Glu) c.2582T>A (p.Val861Glu) c.272T>A (p.Val91Glu) c.1617T>A n.1024A>T c.2228T>A (p.Val743Glu) c.1871T>A (p.Val624Glu) n.2929T>A | |
2 | g.166277243C>A | CA349077955 | SCN1A-AS1,SCN9A | c.2614G>T (p.Val872Leu) c.2581G>T (p.Val861Leu) c.271G>T (p.Val91Leu) c.1616G>T n.1025C>A c.2227G>T (p.Val743Leu) c.1870G>T (p.Val624Leu) n.2928G>T | gnomAD v4 |
2 | g.166277243C>G | CA349077956 | SCN1A-AS1,SCN9A | c.2614G>C (p.Val872Leu) c.2581G>C (p.Val861Leu) c.271G>C (p.Val91Leu) c.1616G>C n.1025C>G c.2227G>C (p.Val743Leu) c.1870G>C (p.Val624Leu) n.2928G>C | |
2 | g.166277243C>T | CA349077957 | SCN1A-AS1,SCN9A | c.2614G>A (p.Val872Met) c.2581G>A (p.Val861Met) c.271G>A (p.Val91Met) c.1616G>A n.1025C>T c.2227G>A (p.Val743Met) c.1870G>A (p.Val624Met) n.2928G>A | |
2 | g.166277244T>A | CA349077958 | SCN1A-AS1,SCN9A | c.2613A>T (p.Leu871Phe) c.2580A>T (p.Leu860Phe) c.270A>T (p.Leu90Phe) c.1615A>T n.1026T>A c.2226A>T (p.Leu742Phe) c.1869A>T (p.Leu623Phe) n.2927A>T | |
2 | g.166277244T>C | CA1944234 | SCN1A-AS1,SCN9A | c.2613A>G (p.Leu871=) c.2580A>G (p.Leu860=) c.270A>G (p.Leu90=) c.1615A>G n.1026T>C c.2226A>G (p.Leu742=) c.1869A>G (p.Leu623=) n.2927A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277244T>G | CA349077959 | SCN1A-AS1,SCN9A | c.2613A>C (p.Leu871Phe) c.2580A>C (p.Leu860Phe) c.270A>C (p.Leu90Phe) c.1615A>C n.1026T>G c.2226A>C (p.Leu742Phe) c.1869A>C (p.Leu623Phe) n.2927A>C | |
2 | g.166277244T= | CA1304965344 | SCN1A-AS1,SCN9A | c.2613A= (p.Leu871=) c.2580A= (p.Leu860=) c.270A= (p.Leu90=) c.1615A= n.1026T= c.2226A= (p.Leu742=) c.1869A= (p.Leu623=) n.2927A= | |
2 | g.166277245A>C | CA349077960 | SCN1A-AS1,SCN9A | c.2612T>G (p.Leu871Ter) c.2579T>G (p.Leu860Ter) c.269T>G (p.Leu90Ter) c.1614T>G n.1027A>C c.2225T>G (p.Leu742Ter) c.1868T>G (p.Leu623Ter) n.2926T>G | |
2 | g.166277245A>G | CA349077961 | SCN1A-AS1,SCN9A | c.2612T>C (p.Leu871Ser) c.2579T>C (p.Leu860Ser) c.269T>C (p.Leu90Ser) c.1614T>C n.1027A>G c.2225T>C (p.Leu742Ser) c.1868T>C (p.Leu623Ser) n.2926T>C | |
2 | g.166277245A>T | CA349077962 | SCN1A-AS1,SCN9A | c.2612T>A (p.Leu871Ter) c.2579T>A (p.Leu860Ter) c.269T>A (p.Leu90Ter) c.1614T>A n.1027A>T c.2225T>A (p.Leu742Ter) c.1868T>A (p.Leu623Ter) n.2926T>A | |
2 | g.166277246A>C | CA349077964 | SCN1A-AS1,SCN9A | c.2611T>G (p.Leu871Val) c.2578T>G (p.Leu860Val) c.268T>G (p.Leu90Val) c.1613T>G n.1028A>C c.2224T>G (p.Leu742Val) c.1867T>G (p.Leu623Val) n.2925T>G | |
2 | g.166277246A>G | CA429978422 | SCN1A-AS1,SCN9A | c.2611T>C (p.Leu871=) c.2578T>C (p.Leu860=) c.268T>C (p.Leu90=) c.1613T>C n.1028A>G c.2224T>C (p.Leu742=) c.1867T>C (p.Leu623=) n.2925T>C | |
2 | g.166277246A>T | CA349077963 | SCN1A-AS1,SCN9A | c.2611T>A (p.Leu871Ile) c.2578T>A (p.Leu860Ile) c.268T>A (p.Leu90Ile) c.1613T>A n.1028A>T c.2224T>A (p.Leu742Ile) c.1867T>A (p.Leu623Ile) n.2925T>A | |
2 | g.166277247G>A | CA429978424 | SCN1A-AS1,SCN9A | c.2610C>T (p.Thr870=) c.2577C>T (p.Thr859=) c.267C>T (p.Thr89=) c.1612C>T n.1029G>A c.2223C>T (p.Thr741=) c.1866C>T (p.Thr622=) n.2924C>T | |
2 | g.166277247G>C | CA429978425 | SCN1A-AS1,SCN9A | c.2610C>G (p.Thr870=) c.2577C>G (p.Thr859=) c.267C>G (p.Thr89=) c.1612C>G n.1029G>C c.2223C>G (p.Thr741=) c.1866C>G (p.Thr622=) n.2924C>G | |
2 | g.166277247G>T | CA429978426 | SCN1A-AS1,SCN9A | c.2610C>A (p.Thr870=) c.2577C>A (p.Thr859=) c.267C>A (p.Thr89=) c.1612C>A n.1029G>T c.2223C>A (p.Thr741=) c.1866C>A (p.Thr622=) n.2924C>A | |
2 | g.166277248G>A | CA349077965 | SCN1A-AS1,SCN9A | c.2609C>T (p.Thr870Ile) c.2576C>T (p.Thr859Ile) c.266C>T (p.Thr89Ile) c.1611C>T n.1029+1G>A c.2222C>T (p.Thr741Ile) c.1865C>T (p.Thr622Ile) n.2923C>T | ClinVar gnomAD v4 |
2 | g.166277248G>C | CA349077967 | SCN1A-AS1,SCN9A | c.2609C>G (p.Thr870Ser) c.2576C>G (p.Thr859Ser) c.266C>G (p.Thr89Ser) c.1611C>G n.1029+1G>C c.2222C>G (p.Thr741Ser) c.1865C>G (p.Thr622Ser) n.2923C>G | |
2 | g.166277248G>T | CA349077966 | SCN1A-AS1,SCN9A | c.2609C>A (p.Thr870Asn) c.2576C>A (p.Thr859Asn) c.266C>A (p.Thr89Asn) c.1611C>A n.1029+1G>T c.2222C>A (p.Thr741Asn) c.1865C>A (p.Thr622Asn) n.2923C>A | |
2 | g.166277249T>A | CA349077968 | SCN1A-AS1,SCN9A | c.2608A>T (p.Thr870Ser) c.2575A>T (p.Thr859Ser) c.265A>T (p.Thr89Ser) c.1610A>T n.1029+2T>A c.2221A>T (p.Thr741Ser) c.1864A>T (p.Thr622Ser) n.2922A>T | |
2 | g.166277249T>C | CA349077969 | SCN1A-AS1,SCN9A | c.2608A>G (p.Thr870Ala) c.2575A>G (p.Thr859Ala) c.265A>G (p.Thr89Ala) c.1610A>G n.1029+2T>C c.2221A>G (p.Thr741Ala) c.1864A>G (p.Thr622Ala) n.2922A>G | |
2 | g.166277249T>G | CA349077970 | SCN1A-AS1,SCN9A | c.2608A>C (p.Thr870Pro) c.2575A>C (p.Thr859Pro) c.265A>C (p.Thr89Pro) c.1610A>C n.1029+2T>G c.2221A>C (p.Thr741Pro) c.1864A>C (p.Thr622Pro) n.2922A>C | |
2 | g.166277250G>A | CA429978430 | SCN1A-AS1,SCN9A | c.2607C>T (p.Leu869=) c.2574C>T (p.Leu858=) c.264C>T (p.Leu88=) c.1609C>T n.1029+3G>A c.2220C>T (p.Leu740=) c.1863C>T (p.Leu621=) n.2921C>T | |
2 | g.166277250G>C | CA429978431 | SCN1A-AS1,SCN9A | c.2607C>G (p.Leu869=) c.2574C>G (p.Leu858=) c.264C>G (p.Leu88=) c.1609C>G n.1029+3G>C c.2220C>G (p.Leu740=) c.1863C>G (p.Leu621=) n.2921C>G | gnomAD v4 |
2 | g.166277250G>T | CA429978432 | SCN1A-AS1,SCN9A | c.2607C>A (p.Leu869=) c.2574C>A (p.Leu858=) c.264C>A (p.Leu88=) c.1609C>A n.1029+3G>T c.2220C>A (p.Leu740=) c.1863C>A (p.Leu621=) n.2921C>A | |
2 | g.166277251A= | CA1304965354 | SCN1A-AS1,SCN9A | c.2606T= (p.Leu869=) c.2573T= (p.Leu858=) c.263T= (p.Leu88=) c.1608T= n.1029+4A= c.2219T= (p.Leu740=) c.1862T= (p.Leu621=) n.2920T= | |
2 | g.166277251A>C | CA349077971 | SCN1A-AS1,SCN9A | c.2606T>G (p.Leu869Arg) c.2573T>G (p.Leu858Arg) c.263T>G (p.Leu88Arg) c.1608T>G n.1029+4A>C c.2219T>G (p.Leu740Arg) c.1862T>G (p.Leu621Arg) n.2920T>G | |
2 | g.166277251A>G | CA349077972 | SCN1A-AS1,SCN9A | c.2606T>C (p.Leu869Pro) c.2573T>C (p.Leu858Pro) c.263T>C (p.Leu88Pro) c.1608T>C n.1029+4A>G c.2219T>C (p.Leu740Pro) c.1862T>C (p.Leu621Pro) n.2920T>C | |
2 | g.166277251A>T | CA340542 | SCN1A-AS1,SCN9A | c.2606T>A (p.Leu869His) c.2573T>A (p.Leu858His) c.263T>A (p.Leu88His) c.1608T>A n.1029+4A>T c.2219T>A (p.Leu740His) c.1862T>A (p.Leu621His) n.2920T>A | ClinVar dbSNP |
2 | g.166277252G>A | CA340554 | SCN1A-AS1,SCN9A | c.2605C>T (p.Leu869Phe) c.2572C>T (p.Leu858Phe) c.262C>T (p.Leu88Phe) c.1607C>T n.1029+5G>A c.2218C>T (p.Leu740Phe) c.1861C>T (p.Leu621Phe) n.2919C>T | ClinVar dbSNP |
2 | g.166277252G>C | CA349077973 | SCN1A-AS1,SCN9A | c.2605C>G (p.Leu869Val) c.2572C>G (p.Leu858Val) c.262C>G (p.Leu88Val) c.1607C>G n.1029+5G>C c.2218C>G (p.Leu740Val) c.1861C>G (p.Leu621Val) n.2919C>G | |
2 | g.166277252G= | CA1304965368 | SCN1A-AS1,SCN9A | c.2605C= (p.Leu869=) c.2572C= (p.Leu858=) c.262C= (p.Leu88=) c.1607C= n.1029+5G= c.2218C= (p.Leu740=) c.1861C= (p.Leu621=) n.2919C= | |
2 | g.166277252G>T | CA349077974 | SCN1A-AS1,SCN9A | c.2605C>A (p.Leu869Ile) c.2572C>A (p.Leu858Ile) c.262C>A (p.Leu88Ile) c.1607C>A n.1029+5G>T c.2218C>A (p.Leu740Ile) c.1861C>A (p.Leu621Ile) n.2919C>A | |
2 | g.166277253G>A | CA429978198 | SCN1A-AS1,SCN9A | c.2604C>T (p.Asn868=) c.2571C>T (p.Asn857=) c.261C>T (p.Asn87=) c.1606C>T n.1029+6G>A c.2217C>T (p.Asn739=) c.1860C>T (p.Asn620=) n.2918C>T | |
2 | g.166277253G>C | CA349077975 | SCN1A-AS1,SCN9A | c.2604C>G (p.Asn868Lys) c.2571C>G (p.Asn857Lys) c.261C>G (p.Asn87Lys) c.1606C>G n.1029+6G>C c.2217C>G (p.Asn739Lys) c.1860C>G (p.Asn620Lys) n.2918C>G | |
2 | g.166277253G>T | CA349077976 | SCN1A-AS1,SCN9A | c.2604C>A (p.Asn868Lys) c.2571C>A (p.Asn857Lys) c.261C>A (p.Asn87Lys) c.1606C>A n.1029+6G>T c.2217C>A (p.Asn739Lys) c.1860C>A (p.Asn620Lys) n.2918C>A | |
2 | g.166277254T>A | CA349077979 | SCN1A-AS1,SCN9A | c.2603A>T (p.Asn868Ile) c.2570A>T (p.Asn857Ile) c.260A>T (p.Asn87Ile) c.1605A>T n.1029+7T>A c.2216A>T (p.Asn739Ile) c.1859A>T (p.Asn620Ile) n.2917A>T | |
2 | g.166277254T>C | CA349077978 | SCN1A-AS1,SCN9A | c.2603A>G (p.Asn868Ser) c.2570A>G (p.Asn857Ser) c.260A>G (p.Asn87Ser) c.1605A>G n.1029+7T>C c.2216A>G (p.Asn739Ser) c.1859A>G (p.Asn620Ser) n.2917A>G | dbSNP |
2 | g.166277254T>G | CA349077977 | SCN1A-AS1,SCN9A | c.2603A>C (p.Asn868Thr) c.2570A>C (p.Asn857Thr) c.260A>C (p.Asn87Thr) c.1605A>C n.1029+7T>G c.2216A>C (p.Asn739Thr) c.1859A>C (p.Asn620Thr) n.2917A>C | |
2 | g.166277254T= | CA1304965375 | SCN1A-AS1,SCN9A | c.2603A= (p.Asn868=) c.2570A= (p.Asn857=) c.260A= (p.Asn87=) c.1605A= n.1029+7T= c.2216A= (p.Asn739=) c.1859A= (p.Asn620=) n.2917A= | |
2 | g.166277255T>A | CA349077980 | SCN1A-AS1,SCN9A | c.2602A>T (p.Asn868Tyr) c.2569A>T (p.Asn857Tyr) c.259A>T (p.Asn87Tyr) c.1604A>T n.1029+8T>A c.2215A>T (p.Asn739Tyr) c.1858A>T (p.Asn620Tyr) n.2916A>T | |
2 | g.166277255T>C | CA349077981 | SCN1A-AS1,SCN9A | c.2602A>G (p.Asn868Asp) c.2569A>G (p.Asn857Asp) c.259A>G (p.Asn87Asp) c.1604A>G n.1029+8T>C c.2215A>G (p.Asn739Asp) c.1858A>G (p.Asn620Asp) n.2916A>G | |
2 | g.166277255T>G | CA349077982 | SCN1A-AS1,SCN9A | c.2602A>C (p.Asn868His) c.2569A>C (p.Asn857His) c.259A>C (p.Asn87His) c.1604A>C n.1029+8T>G c.2215A>C (p.Asn739His) c.1858A>C (p.Asn620His) n.2916A>C | |
2 | g.166277256A= | CA1304965383 | SCN1A-AS1,SCN9A | c.2601T= (p.Gly867=) c.2568T= (p.Gly856=) c.258T= (p.Gly86=) c.1603T= n.1029+9A= c.2214T= (p.Gly738=) c.1857T= (p.Gly619=) n.2915T= | |
2 | g.166277256A>C | CA429978199 | SCN1A-AS1,SCN9A | c.2601T>G (p.Gly867=) c.2568T>G (p.Gly856=) c.258T>G (p.Gly86=) c.1603T>G n.1029+9A>C c.2214T>G (p.Gly738=) c.1857T>G (p.Gly619=) n.2915T>G | |
2 | g.166277256A>G | CA429978200 | SCN1A-AS1,SCN9A | c.2601T>C (p.Gly867=) c.2568T>C (p.Gly856=) c.258T>C (p.Gly86=) c.1603T>C n.1029+9A>G c.2214T>C (p.Gly738=) c.1857T>C (p.Gly619=) n.2915T>C | |
2 | g.166277256A>T | CA1944235 | SCN1A-AS1,SCN9A | c.2601T>A (p.Gly867=) c.2568T>A (p.Gly856=) c.258T>A (p.Gly86=) c.1603T>A n.1029+9A>T c.2214T>A (p.Gly738=) c.1857T>A (p.Gly619=) n.2915T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277257C>A | CA349077983 | SCN1A-AS1,SCN9A | c.2600G>T (p.Gly867Val) c.2567G>T (p.Gly856Val) c.257G>T (p.Gly86Val) c.1602G>T n.1029+10C>A c.2213G>T (p.Gly738Val) c.1856G>T (p.Gly619Val) n.2914G>T | |
2 | g.166277257C= | CA1304965397 | SCN1A-AS1,SCN9A | c.2600G= (p.Gly867=) c.2567G= (p.Gly856=) c.257G= (p.Gly86=) c.1602G= n.1029+10C= c.2213G= (p.Gly738=) c.1856G= (p.Gly619=) n.2914G= | |
2 | g.166277257C>G | CA349077984 | SCN1A-AS1,SCN9A | c.2600G>C (p.Gly867Ala) c.2567G>C (p.Gly856Ala) c.257G>C (p.Gly86Ala) c.1602G>C n.1029+10C>G c.2213G>C (p.Gly738Ala) c.1856G>C (p.Gly619Ala) n.2914G>C | |
2 | g.166277257C>T | CA10584165 | SCN1A-AS1,SCN9A | c.2600G>A (p.Gly867Asp) c.2567G>A (p.Gly856Asp) c.257G>A (p.Gly86Asp) c.1602G>A n.1029+10C>T c.2213G>A (p.Gly738Asp) c.1856G>A (p.Gly619Asp) n.2914G>A | ClinVar dbSNP |
2 | g.166277258C>A | CA349077985 | SCN1A-AS1,SCN9A | c.2599G>T (p.Gly867Cys) c.2566G>T (p.Gly856Cys) c.256G>T (p.Gly86Cys) c.1601G>T n.1029+11C>A c.2212G>T (p.Gly738Cys) c.1855G>T (p.Gly619Cys) n.2913G>T | |
2 | g.166277258C= | CA1304965407 | SCN1A-AS1,SCN9A | c.2599G= (p.Gly867=) c.2566G= (p.Gly856=) c.256G= (p.Gly86=) c.1601G= n.1029+11C= c.2212G= (p.Gly738=) c.1855G= (p.Gly619=) n.2913G= | |
2 | g.166277258C>G | CA349077986 | SCN1A-AS1,SCN9A | c.2599G>C (p.Gly867Arg) c.2566G>C (p.Gly856Arg) c.256G>C (p.Gly86Arg) c.1601G>C n.1029+11C>G c.2212G>C (p.Gly738Arg) c.1855G>C (p.Gly619Arg) n.2913G>C | ClinVar dbSNP |
2 | g.166277258C>T | CA349077987 | SCN1A-AS1,SCN9A | c.2599G>A (p.Gly867Ser) c.2566G>A (p.Gly856Ser) c.256G>A (p.Gly86Ser) c.1601G>A n.1029+11C>T c.2212G>A (p.Gly738Ser) c.1855G>A (p.Gly619Ser) n.2913G>A | |
2 | g.166277259T>A | CA429978201 | SCN1A-AS1,SCN9A | c.2598A>T (p.Leu866=) c.2565A>T (p.Leu855=) c.255A>T (p.Leu85=) c.1600A>T n.1029+12T>A c.2211A>T (p.Leu737=) c.1854A>T (p.Leu618=) n.2912A>T | |
2 | g.166277259T>C | CA429978203 | SCN1A-AS1,SCN9A | c.2598A>G (p.Leu866=) c.2565A>G (p.Leu855=) c.255A>G (p.Leu85=) c.1600A>G n.1029+12T>C c.2211A>G (p.Leu737=) c.1854A>G (p.Leu618=) n.2912A>G | |
2 | g.166277259T>G | CA429978202 | SCN1A-AS1,SCN9A | c.2598A>C (p.Leu866=) c.2565A>C (p.Leu855=) c.255A>C (p.Leu85=) c.1600A>C n.1029+12T>G c.2211A>C (p.Leu737=) c.1854A>C (p.Leu618=) n.2912A>C | |
2 | g.166277260A>C | CA349077988 | SCN1A-AS1,SCN9A | c.2597T>G (p.Leu866Arg) c.2564T>G (p.Leu855Arg) c.254T>G (p.Leu85Arg) c.1599T>G n.1029+13A>C c.2210T>G (p.Leu737Arg) c.1853T>G (p.Leu618Arg) n.2911T>G | |
2 | g.166277260A>G | CA349077989 | SCN1A-AS1,SCN9A | c.2597T>C (p.Leu866Pro) c.2564T>C (p.Leu855Pro) c.254T>C (p.Leu85Pro) c.1599T>C n.1029+13A>G c.2210T>C (p.Leu737Pro) c.1853T>C (p.Leu618Pro) n.2911T>C | |
2 | g.166277260A>T | CA349077990 | SCN1A-AS1,SCN9A | c.2597T>A (p.Leu866Gln) c.2564T>A (p.Leu855Gln) c.254T>A (p.Leu85Gln) c.1599T>A n.1029+13A>T c.2210T>A (p.Leu737Gln) c.1853T>A (p.Leu618Gln) n.2911T>A | |
2 | g.166277261G>A | CA429978204 | SCN1A-AS1,SCN9A | c.2596C>T (p.Leu866=) c.2563C>T (p.Leu855=) c.253C>T (p.Leu85=) c.1598C>T n.1029+14G>A c.2209C>T (p.Leu737=) c.1852C>T (p.Leu618=) n.2910C>T | |
2 | g.166277261G>C | CA349077991 | SCN1A-AS1,SCN9A | c.2596C>G (p.Leu866Val) c.2563C>G (p.Leu855Val) c.253C>G (p.Leu85Val) c.1598C>G n.1029+14G>C c.2209C>G (p.Leu737Val) c.1852C>G (p.Leu618Val) n.2910C>G | ClinVar dbSNP |
2 | g.166277261G= | CA1304965412 | SCN1A-AS1,SCN9A | c.2596C= (p.Leu866=) c.2563C= (p.Leu855=) c.253C= (p.Leu85=) c.1598C= n.1029+14G= c.2209C= (p.Leu737=) c.1852C= (p.Leu618=) n.2910C= | |
2 | g.166277261G>T | CA349077992 | SCN1A-AS1,SCN9A | c.2596C>A (p.Leu866Ile) c.2563C>A (p.Leu855Ile) c.253C>A (p.Leu85Ile) c.1598C>A n.1029+14G>T c.2209C>A (p.Leu737Ile) c.1852C>A (p.Leu618Ile) n.2910C>A | |
2 | g.166277262A= | CA1304965423 | SCN1A-AS1,SCN9A | c.2595T= (p.Ala865=) c.2562T= (p.Ala854=) c.252T= (p.Ala84=) c.1597T= n.1029+15A= c.2208T= (p.Ala736=) c.1851T= (p.Ala617=) n.2909T= | |
2 | g.166277262A>C | CA429978205 | SCN1A-AS1,SCN9A | c.2595T>G (p.Ala865=) c.2562T>G (p.Ala854=) c.252T>G (p.Ala84=) c.1597T>G n.1029+15A>C c.2208T>G (p.Ala736=) c.1851T>G (p.Ala617=) n.2909T>G | |
2 | g.166277262A>G | CA429978206 | SCN1A-AS1,SCN9A | c.2595T>C (p.Ala865=) c.2562T>C (p.Ala854=) c.252T>C (p.Ala84=) c.1597T>C n.1029+15A>G c.2208T>C (p.Ala736=) c.1851T>C (p.Ala617=) n.2909T>C | dbSNP gnomAD v4 |
2 | g.166277262A>T | CA429978207 | SCN1A-AS1,SCN9A | c.2595T>A (p.Ala865=) c.2562T>A (p.Ala854=) c.252T>A (p.Ala84=) c.1597T>A n.1029+15A>T c.2208T>A (p.Ala736=) c.1851T>A (p.Ala617=) n.2909T>A | ClinVar dbSNP gnomAD v4 |
2 | g.166277263G>A | CA349077993 | SCN1A-AS1,SCN9A | c.2594C>T (p.Ala865Val) c.2561C>T (p.Ala854Val) c.251C>T (p.Ala84Val) c.1596C>T n.1029+16G>A c.2207C>T (p.Ala736Val) c.1850C>T (p.Ala617Val) n.2908C>T | |
2 | g.166277263G>C | CA349077995 | SCN1A-AS1,SCN9A | c.2594C>G (p.Ala865Gly) c.2561C>G (p.Ala854Gly) c.251C>G (p.Ala84Gly) c.1596C>G n.1029+16G>C c.2207C>G (p.Ala736Gly) c.1850C>G (p.Ala617Gly) n.2908C>G | |
2 | g.166277263G>T | CA349077994 | SCN1A-AS1,SCN9A | c.2594C>A (p.Ala865Asp) c.2561C>A (p.Ala854Asp) c.251C>A (p.Ala84Asp) c.1596C>A n.1029+16G>T c.2207C>A (p.Ala736Asp) c.1850C>A (p.Ala617Asp) n.2908C>A | |
2 | g.166277264C>A | CA349077996 | SCN1A-AS1,SCN9A | c.2593G>T (p.Ala865Ser) c.2560G>T (p.Ala854Ser) c.250G>T (p.Ala84Ser) c.1595G>T n.1029+17C>A c.2206G>T (p.Ala736Ser) c.1849G>T (p.Ala617Ser) n.2907G>T | gnomAD v4 |
2 | g.166277264C>G | CA349077998 | SCN1A-AS1,SCN9A | c.2593G>C (p.Ala865Pro) c.2560G>C (p.Ala854Pro) c.250G>C (p.Ala84Pro) c.1595G>C n.1029+17C>G c.2206G>C (p.Ala736Pro) c.1849G>C (p.Ala617Pro) n.2907G>C | ClinVar gnomAD v4 |
2 | g.166277264C>T | CA349077997 | SCN1A-AS1,SCN9A | c.2593G>A (p.Ala865Thr) c.2560G>A (p.Ala854Thr) c.250G>A (p.Ala84Thr) c.1595G>A n.1029+17C>T c.2206G>A (p.Ala736Thr) c.1849G>A (p.Ala617Thr) n.2907G>A | |
2 | g.166277265C>A | CA429978208 | SCN1A-AS1,SCN9A | c.2592G>T (p.Gly864=) c.2559G>T (p.Gly853=) c.249G>T (p.Gly83=) c.1594G>T n.1029+18C>A c.2205G>T (p.Gly735=) c.1848G>T (p.Gly616=) n.2906G>T | dbSNP gnomAD v4 |
2 | g.166277265C= | CA1304965435 | SCN1A-AS1,SCN9A | c.2592G= (p.Gly864=) c.2559G= (p.Gly853=) c.249G= (p.Gly83=) c.1594G= n.1029+18C= c.2205G= (p.Gly735=) c.1848G= (p.Gly616=) n.2906G= | |
2 | g.166277265C>G | CA429978209 | SCN1A-AS1,SCN9A | c.2592G>C (p.Gly864=) c.2559G>C (p.Gly853=) c.249G>C (p.Gly83=) c.1594G>C n.1029+18C>G c.2205G>C (p.Gly735=) c.1848G>C (p.Gly616=) n.2906G>C | |
2 | g.166277265C>T | CA59794770 | SCN1A-AS1,SCN9A | c.2592G>A (p.Gly864=) c.2559G>A (p.Gly853=) c.249G>A (p.Gly83=) c.1594G>A n.1029+18C>T c.2205G>A (p.Gly735=) c.1848G>A (p.Gly616=) n.2906G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277266C>A | CA349078000 | SCN1A-AS1,SCN9A | c.2591G>T (p.Gly864Val) c.2558G>T (p.Gly853Val) c.248G>T (p.Gly83Val) c.1593G>T n.1029+19C>A c.2204G>T (p.Gly735Val) c.1847G>T (p.Gly616Val) n.2905G>T | |
2 | g.166277266C>G | CA349077999 | SCN1A-AS1,SCN9A | c.2591G>C (p.Gly864Ala) c.2558G>C (p.Gly853Ala) c.248G>C (p.Gly83Ala) c.1593G>C n.1029+19C>G c.2204G>C (p.Gly735Ala) c.1847G>C (p.Gly616Ala) n.2905G>C | |
2 | g.166277266C>T | CA349078001 | SCN1A-AS1,SCN9A | c.2591G>A (p.Gly864Glu) c.2558G>A (p.Gly853Glu) c.248G>A (p.Gly83Glu) c.1593G>A n.1029+19C>T c.2204G>A (p.Gly735Glu) c.1847G>A (p.Gly616Glu) n.2905G>A | gnomAD v4 |
2 | g.166277267C>A | CA349078002 | SCN1A-AS1,SCN9A | c.2590G>T (p.Gly864Trp) c.2557G>T (p.Gly853Trp) c.247G>T (p.Gly83Trp) c.1592G>T n.1029+20C>A c.2203G>T (p.Gly735Trp) c.1846G>T (p.Gly616Trp) n.2904G>T | gnomAD v4 |
2 | g.166277267C>G | CA349078004 | SCN1A-AS1,SCN9A | c.2590G>C (p.Gly864Arg) c.2557G>C (p.Gly853Arg) c.247G>C (p.Gly83Arg) c.1592G>C n.1029+20C>G c.2203G>C (p.Gly735Arg) c.1846G>C (p.Gly616Arg) n.2904G>C | |
2 | g.166277267C>T | CA349078003 | SCN1A-AS1,SCN9A | c.2590G>A (p.Gly864Arg) c.2557G>A (p.Gly853Arg) c.247G>A (p.Gly83Arg) c.1592G>A n.1029+20C>T c.2203G>A (p.Gly735Arg) c.1846G>A (p.Gly616Arg) n.2904G>A | |
2 | g.166277268T>A | CA429978210 | SCN1A-AS1,SCN9A | c.2589A>T (p.Val863=) c.2556A>T (p.Val852=) c.246A>T (p.Val82=) c.1591A>T n.1029+21T>A c.2202A>T (p.Val734=) c.1845A>T (p.Val615=) n.2903A>T | |
2 | g.166277268T>C | CA429978211 | SCN1A-AS1,SCN9A | c.2589A>G (p.Val863=) c.2556A>G (p.Val852=) c.246A>G (p.Val82=) c.1591A>G n.1029+21T>C c.2202A>G (p.Val734=) c.1845A>G (p.Val615=) n.2903A>G | COSMIC COSMIC |
2 | g.166277268T>G | CA429978212 | SCN1A-AS1,SCN9A | c.2589A>C (p.Val863=) c.2556A>C (p.Val852=) c.246A>C (p.Val82=) c.1591A>C n.1029+21T>G c.2202A>C (p.Val734=) c.1845A>C (p.Val615=) n.2903A>C | |
2 | g.166277269A>C | CA349078005 | SCN1A-AS1,SCN9A | c.2588T>G (p.Val863Gly) c.2555T>G (p.Val852Gly) c.245T>G (p.Val82Gly) c.1590T>G n.1029+22A>C c.2201T>G (p.Val734Gly) c.1844T>G (p.Val615Gly) n.2902T>G | |
2 | g.166277269A>G | CA349078006 | SCN1A-AS1,SCN9A | c.2588T>C (p.Val863Ala) c.2555T>C (p.Val852Ala) c.245T>C (p.Val82Ala) c.1590T>C n.1029+22A>G c.2201T>C (p.Val734Ala) c.1844T>C (p.Val615Ala) n.2902T>C | |
2 | g.166277269A>T | CA349078007 | SCN1A-AS1,SCN9A | c.2588T>A (p.Val863Glu) c.2555T>A (p.Val852Glu) c.245T>A (p.Val82Glu) c.1590T>A n.1029+22A>T c.2201T>A (p.Val734Glu) c.1844T>A (p.Val615Glu) n.2902T>A | |
2 | g.166277270C>A | CA349078008 | SCN1A-AS1,SCN9A | c.2587G>T (p.Val863Leu) c.2554G>T (p.Val852Leu) c.244G>T (p.Val82Leu) c.1589G>T n.1029+23C>A c.2200G>T (p.Val734Leu) c.1843G>T (p.Val615Leu) n.2901G>T | |
2 | g.166277270C= | CA1304965440 | SCN1A-AS1,SCN9A | c.2587G= (p.Val863=) c.2554G= (p.Val852=) c.244G= (p.Val82=) c.1589G= n.1029+23C= c.2200G= (p.Val734=) c.1843G= (p.Val615=) n.2901G= | |
2 | g.166277270C>G | CA59794775 | SCN1A-AS1,SCN9A | c.2587G>C (p.Val863Leu) c.2554G>C (p.Val852Leu) c.244G>C (p.Val82Leu) c.1589G>C n.1029+23C>G c.2200G>C (p.Val734Leu) c.1843G>C (p.Val615Leu) n.2901G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277270C>T | CA349078009 | SCN1A-AS1,SCN9A | c.2587G>A (p.Val863Ile) c.2554G>A (p.Val852Ile) c.244G>A (p.Val82Ile) c.1589G>A n.1029+23C>T c.2200G>A (p.Val734Ile) c.1843G>A (p.Val615Ile) n.2901G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277271T>A | CA429978213 | SCN1A-AS1,SCN9A | c.2586A>T (p.Ser862=) c.2553A>T (p.Ser851=) c.243A>T (p.Ser81=) c.1588A>T n.1029+24T>A c.2199A>T (p.Ser733=) c.1842A>T (p.Ser614=) n.2900A>T | COSMIC COSMIC |
2 | g.166277271T>C | CA429978215 | SCN1A-AS1,SCN9A | c.2586A>G (p.Ser862=) c.2553A>G (p.Ser851=) c.243A>G (p.Ser81=) c.1588A>G n.1029+24T>C c.2199A>G (p.Ser733=) c.1842A>G (p.Ser614=) n.2900A>G | |
2 | g.166277271T>G | CA429978214 | SCN1A-AS1,SCN9A | c.2586A>C (p.Ser862=) c.2553A>C (p.Ser851=) c.243A>C (p.Ser81=) c.1588A>C n.1029+24T>G c.2199A>C (p.Ser733=) c.1842A>C (p.Ser614=) n.2900A>C | |
2 | g.166277272G>A | CA349078010 | SCN1A-AS1,SCN9A | c.2585C>T (p.Ser862Leu) c.2552C>T (p.Ser851Leu) c.242C>T (p.Ser81Leu) c.1587C>T n.1029+25G>A c.2198C>T (p.Ser733Leu) c.1841C>T (p.Ser614Leu) n.2899C>T | |
2 | g.166277272G>C | CA349078011 | SCN1A-AS1,SCN9A | c.2585C>G (p.Ser862Ter) c.2552C>G (p.Ser851Ter) c.242C>G (p.Ser81Ter) c.1587C>G n.1029+25G>C c.2198C>G (p.Ser733Ter) c.1841C>G (p.Ser614Ter) n.2899C>G | |
2 | g.166277272G>T | CA349078012 | SCN1A-AS1,SCN9A | c.2585C>A (p.Ser862Ter) c.2552C>A (p.Ser851Ter) c.242C>A (p.Ser81Ter) c.1587C>A n.1029+25G>T c.2198C>A (p.Ser733Ter) c.1841C>A (p.Ser614Ter) n.2899C>A | gnomAD v4 |
2 | g.166277273A>C | CA349078013 | SCN1A-AS1,SCN9A | c.2584T>G (p.Ser862Ala) c.2551T>G (p.Ser851Ala) c.241T>G (p.Ser81Ala) c.1586T>G n.1029+26A>C c.2197T>G (p.Ser733Ala) c.1840T>G (p.Ser614Ala) n.2898T>G | |
2 | g.166277273A>G | CA349078014 | SCN1A-AS1,SCN9A | c.2584T>C (p.Ser862Pro) c.2551T>C (p.Ser851Pro) c.241T>C (p.Ser81Pro) c.1586T>C n.1029+26A>G c.2197T>C (p.Ser733Pro) c.1840T>C (p.Ser614Pro) n.2898T>C | |
2 | g.166277273A>T | CA349078015 | SCN1A-AS1,SCN9A | c.2584T>A (p.Ser862Thr) c.2551T>A (p.Ser851Thr) c.241T>A (p.Ser81Thr) c.1586T>A n.1029+26A>T c.2197T>A (p.Ser733Thr) c.1840T>A (p.Ser614Thr) n.2898T>A | |
2 | g.166277274G>A | CA59794790 | SCN1A-AS1,SCN9A | c.2583C>T (p.Asn861=) c.2550C>T (p.Asn850=) c.240C>T (p.Asn80=) c.1585C>T n.1029+27G>A c.2196C>T (p.Asn732=) c.1839C>T (p.Asn613=) n.2897C>T | dbSNP |
2 | g.166277274G>C | CA349078017 | SCN1A-AS1,SCN9A | c.2583C>G (p.Asn861Lys) c.2550C>G (p.Asn850Lys) c.240C>G (p.Asn80Lys) c.1585C>G n.1029+27G>C c.2196C>G (p.Asn732Lys) c.1839C>G (p.Asn613Lys) n.2897C>G | |
2 | g.166277274G= | CA1304965448 | SCN1A-AS1,SCN9A | c.2583C= (p.Asn861=) c.2550C= (p.Asn850=) c.240C= (p.Asn80=) c.1585C= n.1029+27G= c.2196C= (p.Asn732=) c.1839C= (p.Asn613=) n.2897C= | |
2 | g.166277274G>T | CA349078016 | SCN1A-AS1,SCN9A | c.2583C>A (p.Asn861Lys) c.2550C>A (p.Asn850Lys) c.240C>A (p.Asn80Lys) c.1585C>A n.1029+27G>T c.2196C>A (p.Asn732Lys) c.1839C>A (p.Asn613Lys) n.2897C>A | |
2 | g.166277275T>A | CA349078018 | SCN1A-AS1,SCN9A | c.2582A>T (p.Asn861Ile) c.2549A>T (p.Asn850Ile) c.239A>T (p.Asn80Ile) c.1584A>T n.1029+28T>A c.2195A>T (p.Asn732Ile) c.1838A>T (p.Asn613Ile) n.2896A>T | |
2 | g.166277275T>C | CA349078019 | SCN1A-AS1,SCN9A | c.2582A>G (p.Asn861Ser) c.2549A>G (p.Asn850Ser) c.239A>G (p.Asn80Ser) c.1584A>G n.1029+28T>C c.2195A>G (p.Asn732Ser) c.1838A>G (p.Asn613Ser) n.2896A>G | |
2 | g.166277275T>G | CA349078020 | SCN1A-AS1,SCN9A | c.2582A>C (p.Asn861Thr) c.2549A>C (p.Asn850Thr) c.239A>C (p.Asn80Thr) c.1584A>C n.1029+28T>G c.2195A>C (p.Asn732Thr) c.1838A>C (p.Asn613Thr) n.2896A>C | |
2 | g.166277275_166277276insG | CA2502498712 | SCN1A-AS1,SCN9A | c.2581_2582insC (p.Asn861ThrfsTer8) c.2548_2549insC (p.Asn850ThrfsTer8) c.238_239insC (p.Asn80ThrfsTer8) c.1583_1584insC n.1029+28_1029+29insG c.2194_2195insC (p.Asn732ThrfsTer8) c.1837_1838insC (p.Asn613ThrfsTer8) n.2895_2896insC | |
2 | g.166277276T>A | CA349078021 | SCN1A-AS1,SCN9A | c.2581A>T (p.Asn861Tyr) c.2548A>T (p.Asn850Tyr) c.238A>T (p.Asn80Tyr) c.1583A>T n.1029+29T>A c.2194A>T (p.Asn732Tyr) c.1837A>T (p.Asn613Tyr) n.2895A>T | |
2 | g.166277276T>C | CA349078022 | SCN1A-AS1,SCN9A | c.2581A>G (p.Asn861Asp) c.2548A>G (p.Asn850Asp) c.238A>G (p.Asn80Asp) c.1583A>G n.1029+29T>C c.2194A>G (p.Asn732Asp) c.1837A>G (p.Asn613Asp) n.2895A>G | |
2 | g.166277276T>G | CA349078023 | SCN1A-AS1,SCN9A | c.2581A>C (p.Asn861His) c.2548A>C (p.Asn850His) c.238A>C (p.Asn80His) c.1583A>C n.1029+29T>G c.2194A>C (p.Asn732His) c.1837A>C (p.Asn613His) n.2895A>C | |
2 | g.166277277A>C | CA429978216 | SCN1A-AS1,SCN9A | c.2580T>G (p.Gly860=) c.2547T>G (p.Gly849=) c.237T>G (p.Gly79=) c.1582T>G n.1029+30A>C c.2193T>G (p.Gly731=) c.1836T>G (p.Gly612=) n.2894T>G | |
2 | g.166277277A>G | CA429978217 | SCN1A-AS1,SCN9A | c.2580T>C (p.Gly860=) c.2547T>C (p.Gly849=) c.237T>C (p.Gly79=) c.1582T>C n.1029+30A>G c.2193T>C (p.Gly731=) c.1836T>C (p.Gly612=) n.2894T>C | |
2 | g.166277277A>T | CA429978218 | SCN1A-AS1,SCN9A | c.2580T>A (p.Gly860=) c.2547T>A (p.Gly849=) c.237T>A (p.Gly79=) c.1582T>A n.1029+30A>T c.2193T>A (p.Gly731=) c.1836T>A (p.Gly612=) n.2894T>A | |
2 | g.166277278C>A | CA349078024 | SCN1A-AS1,SCN9A | c.2579G>T (p.Gly860Val) c.2546G>T (p.Gly849Val) c.236G>T (p.Gly79Val) c.1581G>T n.1029+31C>A c.2192G>T (p.Gly731Val) c.1835G>T (p.Gly612Val) n.2893G>T | |
2 | g.166277278C>G | CA349078025 | SCN1A-AS1,SCN9A | c.2579G>C (p.Gly860Ala) c.2546G>C (p.Gly849Ala) c.236G>C (p.Gly79Ala) c.1581G>C n.1029+31C>G c.2192G>C (p.Gly731Ala) c.1835G>C (p.Gly612Ala) n.2893G>C | |
2 | g.166277278C>T | CA349078026 | SCN1A-AS1,SCN9A | c.2579G>A (p.Gly860Asp) c.2546G>A (p.Gly849Asp) c.236G>A (p.Gly79Asp) c.1581G>A n.1029+31C>T c.2192G>A (p.Gly731Asp) c.1835G>A (p.Gly612Asp) n.2893G>A | |
2 | g.166277279del | CA2577144991 | SCN1A-AS1,SCN9A | c.2579del (p.Gly860ValfsTer4) c.2546del (p.Gly849ValfsTer4) c.236del (p.Gly79ValfsTer4) c.1581del n.1029+32del c.2192del (p.Gly731ValfsTer4) c.1835del (p.Gly612ValfsTer4) n.2893del | gnomAD v4 |
2 | g.166277279C>A | CA349078029 | SCN1A-AS1,SCN9A | c.2578G>T (p.Gly860Cys) c.2545G>T (p.Gly849Cys) c.235G>T (p.Gly79Cys) c.1580G>T n.1029+32C>A c.2191G>T (p.Gly731Cys) c.1834G>T (p.Gly612Cys) n.2892G>T | |
2 | g.166277279C>G | CA349078028 | SCN1A-AS1,SCN9A | c.2578G>C (p.Gly860Arg) c.2545G>C (p.Gly849Arg) c.235G>C (p.Gly79Arg) c.1580G>C n.1029+32C>G c.2191G>C (p.Gly731Arg) c.1834G>C (p.Gly612Arg) n.2892G>C | |
2 | g.166277279C>T | CA349078027 | SCN1A-AS1,SCN9A | c.2578G>A (p.Gly860Ser) c.2545G>A (p.Gly849Ser) c.235G>A (p.Gly79Ser) c.1580G>A n.1029+32C>T c.2191G>A (p.Gly731Ser) c.1834G>A (p.Gly612Ser) n.2892G>A | |
2 | g.166277279_166277280delinsCA | CA1304965452 | SCN1A-AS1,SCN9A | c.2577_2578delinsTG (p.Ile859=) c.2544_2545delinsTG (p.Ile848=) c.234_235delinsTG (p.Ile78=) c.1579_1580delinsTG n.1029+32_1029+33delinsCA c.2190_2191delinsTG (p.Ile730=) c.1833_1834delinsTG (p.Ile611=) n.2891_2892delinsTG | |
2 | g.166277280A>C | CA349078030 | SCN1A-AS1,SCN9A | c.2577T>G (p.Ile859Met) c.2544T>G (p.Ile848Met) c.234T>G (p.Ile78Met) c.1579T>G n.1029+33A>C c.2190T>G (p.Ile730Met) c.1833T>G (p.Ile611Met) n.2891T>G | |
2 | g.166277280A>G | CA429978220 | SCN1A-AS1,SCN9A | c.2577T>C (p.Ile859=) c.2544T>C (p.Ile848=) c.234T>C (p.Ile78=) c.1579T>C n.1029+33A>G c.2190T>C (p.Ile730=) c.1833T>C (p.Ile611=) n.2891T>C | |
2 | g.166277280A>T | CA429978219 | SCN1A-AS1,SCN9A | c.2577T>A (p.Ile859=) c.2544T>A (p.Ile848=) c.234T>A (p.Ile78=) c.1579T>A n.1029+33A>T c.2190T>A (p.Ile730=) c.1833T>A (p.Ile611=) n.2891T>A | gnomAD v4 |
2 | g.166277281del | CA1944236 | SCN1A-AS1,SCN9A | c.2577del (p.Ile859MetfsTer5) c.2544del (p.Ile848MetfsTer5) c.234del (p.Ile78MetfsTer5) c.1579del n.1029+34del c.2190del (p.Ile730MetfsTer5) c.1833del (p.Ile611MetfsTer5) n.2891del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277281A= | CA1304965477 | SCN1A-AS1,SCN9A | c.2576T= (p.Ile859=) c.2543T= (p.Ile848=) c.233T= (p.Ile78=) c.1578T= n.1029+34A= c.2189T= (p.Ile730=) c.1832T= (p.Ile611=) n.2890T= | |
2 | g.166277281A>C | CA349078031 | SCN1A-AS1,SCN9A | c.2576T>G (p.Ile859Ser) c.2543T>G (p.Ile848Ser) c.233T>G (p.Ile78Ser) c.1578T>G n.1029+34A>C c.2189T>G (p.Ile730Ser) c.1832T>G (p.Ile611Ser) n.2890T>G | |
2 | g.166277281A>G | CA340545 | SCN1A-AS1,SCN9A | c.2576T>C (p.Ile859Thr) c.2543T>C (p.Ile848Thr) c.233T>C (p.Ile78Thr) c.1578T>C n.1029+34A>G c.2189T>C (p.Ile730Thr) c.1832T>C (p.Ile611Thr) n.2890T>C | ClinVar dbSNP COSMIC COSMIC |
2 | g.166277281A>T | CA349078032 | SCN1A-AS1,SCN9A | c.2576T>A (p.Ile859Asn) c.2543T>A (p.Ile848Asn) c.233T>A (p.Ile78Asn) c.1578T>A n.1029+34A>T c.2189T>A (p.Ile730Asn) c.1832T>A (p.Ile611Asn) n.2890T>A | |
2 | g.166277282T>A | CA349078033 | SCN1A-AS1,SCN9A | c.2575A>T (p.Ile859Phe) c.2542A>T (p.Ile848Phe) c.232A>T (p.Ile78Phe) c.1577A>T n.1029+35T>A c.2188A>T (p.Ile730Phe) c.1831A>T (p.Ile611Phe) n.2889A>T | |
2 | g.166277282T>C | CA349078034 | SCN1A-AS1,SCN9A | c.2575A>G (p.Ile859Val) c.2542A>G (p.Ile848Val) c.232A>G (p.Ile78Val) c.1577A>G n.1029+35T>C c.2188A>G (p.Ile730Val) c.1831A>G (p.Ile611Val) n.2889A>G | |
2 | g.166277282T>G | CA349078035 | SCN1A-AS1,SCN9A | c.2575A>C (p.Ile859Leu) c.2542A>C (p.Ile848Leu) c.232A>C (p.Ile78Leu) c.1577A>C n.1029+35T>G c.2188A>C (p.Ile730Leu) c.1831A>C (p.Ile611Leu) n.2889A>C | |
2 | g.166277283G>A | CA429978221 | SCN1A-AS1,SCN9A | c.2574C>T (p.Ile858=) c.2541C>T (p.Ile847=) c.231C>T (p.Ile77=) c.1576C>T n.1029+36G>A c.2187C>T (p.Ile729=) c.1830C>T (p.Ile610=) n.2888C>T | |
2 | g.166277283G>C | CA349078036 | SCN1A-AS1,SCN9A | c.2574C>G (p.Ile858Met) c.2541C>G (p.Ile847Met) c.231C>G (p.Ile77Met) c.1576C>G n.1029+36G>C c.2187C>G (p.Ile729Met) c.1830C>G (p.Ile610Met) n.2888C>G | |
2 | g.166277283G= | CA1304965486 | SCN1A-AS1,SCN9A | c.2574C= (p.Ile858=) c.2541C= (p.Ile847=) c.231C= (p.Ile77=) c.1576C= n.1029+36G= c.2187C= (p.Ile729=) c.1830C= (p.Ile610=) n.2888C= | |
2 | g.166277283G>T | CA429978222 | SCN1A-AS1,SCN9A | c.2574C>A (p.Ile858=) c.2541C>A (p.Ile847=) c.231C>A (p.Ile77=) c.1576C>A n.1029+36G>T c.2187C>A (p.Ile729=) c.1830C>A (p.Ile610=) n.2888C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277284A>C | CA349078037 | SCN1A-AS1,SCN9A | c.2573T>G (p.Ile858Ser) c.2540T>G (p.Ile847Ser) c.230T>G (p.Ile77Ser) c.1575T>G n.1029+37A>C c.2186T>G (p.Ile729Ser) c.1829T>G (p.Ile610Ser) n.2887T>G | |
2 | g.166277284A>G | CA349078038 | SCN1A-AS1,SCN9A | c.2573T>C (p.Ile858Thr) c.2540T>C (p.Ile847Thr) c.230T>C (p.Ile77Thr) c.1575T>C n.1029+37A>G c.2186T>C (p.Ile729Thr) c.1829T>C (p.Ile610Thr) n.2887T>C | |
2 | g.166277284A>T | CA349078039 | SCN1A-AS1,SCN9A | c.2573T>A (p.Ile858Asn) c.2540T>A (p.Ile847Asn) c.230T>A (p.Ile77Asn) c.1575T>A n.1029+37A>T c.2186T>A (p.Ile729Asn) c.1829T>A (p.Ile610Asn) n.2887T>A | |
2 | g.166277285T>A | CA349078041 | SCN1A-AS1,SCN9A | c.2572A>T (p.Ile858Phe) c.2539A>T (p.Ile847Phe) c.229A>T (p.Ile77Phe) c.1574A>T n.1029+38T>A c.2185A>T (p.Ile729Phe) c.1828A>T (p.Ile610Phe) n.2886A>T | |
2 | g.166277285T>C | CA59794805 | SCN1A-AS1,SCN9A | c.2572A>G (p.Ile858Val) c.2539A>G (p.Ile847Val) c.229A>G (p.Ile77Val) c.1574A>G n.1029+38T>C c.2185A>G (p.Ile729Val) c.1828A>G (p.Ile610Val) n.2886A>G | dbSNP |
2 | g.166277285T>G | CA349078040 | SCN1A-AS1,SCN9A | c.2572A>C (p.Ile858Leu) c.2539A>C (p.Ile847Leu) c.229A>C (p.Ile77Leu) c.1574A>C n.1029+38T>G c.2185A>C (p.Ile729Leu) c.1828A>C (p.Ile610Leu) n.2886A>C | |
2 | g.166277285T= | CA1304965498 | SCN1A-AS1,SCN9A | c.2572A= (p.Ile858=) c.2539A= (p.Ile847=) c.229A= (p.Ile77=) c.1574A= n.1029+38T= c.2185A= (p.Ile729=) c.1828A= (p.Ile610=) n.2886A= | |
2 | g.166277286C>A | CA349078042 | SCN1A-AS1,SCN9A | c.2571G>T (p.Lys857Asn) c.2538G>T (p.Lys846Asn) c.228G>T (p.Lys76Asn) c.1573G>T n.1029+39C>A c.2184G>T (p.Lys728Asn) c.1827G>T (p.Lys609Asn) n.2885G>T | |
2 | g.166277286C>G | CA349078043 | SCN1A-AS1,SCN9A | c.2571G>C (p.Lys857Asn) c.2538G>C (p.Lys846Asn) c.228G>C (p.Lys76Asn) c.1573G>C n.1029+39C>G c.2184G>C (p.Lys728Asn) c.1827G>C (p.Lys609Asn) n.2885G>C | |
2 | g.166277286C>T | CA429978223 | SCN1A-AS1,SCN9A | c.2571G>A (p.Lys857=) c.2538G>A (p.Lys846=) c.228G>A (p.Lys76=) c.1573G>A n.1029+39C>T c.2184G>A (p.Lys728=) c.1827G>A (p.Lys609=) n.2885G>A | |
2 | g.166277287T>A | CA349078044 | SCN1A-AS1,SCN9A | c.2570A>T (p.Lys857Met) c.2537A>T (p.Lys846Met) c.227A>T (p.Lys76Met) c.1572A>T n.1029+40T>A c.2183A>T (p.Lys728Met) c.1826A>T (p.Lys609Met) n.2884A>T | |
2 | g.166277287T>C | CA349078045 | SCN1A-AS1,SCN9A | c.2570A>G (p.Lys857Arg) c.2537A>G (p.Lys846Arg) c.227A>G (p.Lys76Arg) c.1572A>G n.1029+40T>C c.2183A>G (p.Lys728Arg) c.1826A>G (p.Lys609Arg) n.2884A>G | |
2 | g.166277287T>G | CA349078046 | SCN1A-AS1,SCN9A | c.2570A>C (p.Lys857Thr) c.2537A>C (p.Lys846Thr) c.227A>C (p.Lys76Thr) c.1572A>C n.1029+40T>G c.2183A>C (p.Lys728Thr) c.1826A>C (p.Lys609Thr) n.2884A>C | |
2 | g.166277288T>A | CA349078047 | SCN1A-AS1,SCN9A | c.2569A>T (p.Lys857Ter) c.2536A>T (p.Lys846Ter) c.226A>T (p.Lys76Ter) c.1571A>T n.1029+41T>A c.2182A>T (p.Lys728Ter) c.1825A>T (p.Lys609Ter) n.2883A>T | dbSNP |
2 | g.166277288T>C | CA349078048 | SCN1A-AS1,SCN9A | c.2569A>G (p.Lys857Glu) c.2536A>G (p.Lys846Glu) c.226A>G (p.Lys76Glu) c.1571A>G n.1029+41T>C c.2182A>G (p.Lys728Glu) c.1825A>G (p.Lys609Glu) n.2883A>G | |
2 | g.166277288T>G | CA349078049 | SCN1A-AS1,SCN9A | c.2569A>C (p.Lys857Gln) c.2536A>C (p.Lys846Gln) c.226A>C (p.Lys76Gln) c.1571A>C n.1029+41T>G c.2182A>C (p.Lys728Gln) c.1825A>C (p.Lys609Gln) n.2883A>C | |
2 | g.166277288T= | CA1304965506 | SCN1A-AS1,SCN9A | c.2569A= (p.Lys857=) c.2536A= (p.Lys846=) c.226A= (p.Lys76=) c.1571A= n.1029+41T= c.2182A= (p.Lys728=) c.1825A= (p.Lys609=) n.2883A= | |
2 | g.166277289A= | CA1304965512 | SCN1A-AS1,SCN9A | c.2568T= (p.Ile856=) c.2535T= (p.Ile845=) c.225T= (p.Ile75=) c.1570T= n.1029+42A= c.2181T= (p.Ile727=) c.1824T= (p.Ile608=) n.2882T= | |
2 | g.166277289A>C | CA349078050 | SCN1A-AS1,SCN9A | c.2568T>G (p.Ile856Met) c.2535T>G (p.Ile845Met) c.225T>G (p.Ile75Met) c.1570T>G n.1029+42A>C c.2181T>G (p.Ile727Met) c.1824T>G (p.Ile608Met) n.2882T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277289A>G | CA429978224 | SCN1A-AS1,SCN9A | c.2568T>C (p.Ile856=) c.2535T>C (p.Ile845=) c.225T>C (p.Ile75=) c.1570T>C n.1029+42A>G c.2181T>C (p.Ile727=) c.1824T>C (p.Ile608=) n.2882T>C | |
2 | g.166277289A>T | CA429978225 | SCN1A-AS1,SCN9A | c.2568T>A (p.Ile856=) c.2535T>A (p.Ile845=) c.225T>A (p.Ile75=) c.1570T>A n.1029+42A>T c.2181T>A (p.Ile727=) c.1824T>A (p.Ile608=) n.2882T>A | |
2 | g.166277290A= | CA1304965518 | SCN1A-AS1,SCN9A | c.2567T= (p.Ile856=) c.2534T= (p.Ile845=) c.224T= (p.Ile75=) c.1569T= n.1029+43A= c.2180T= (p.Ile727=) c.1823T= (p.Ile608=) n.2881T= | |
2 | g.166277290A>C | CA349078051 | SCN1A-AS1,SCN9A | c.2567T>G (p.Ile856Ser) c.2534T>G (p.Ile845Ser) c.224T>G (p.Ile75Ser) c.1569T>G n.1029+43A>C c.2180T>G (p.Ile727Ser) c.1823T>G (p.Ile608Ser) n.2881T>G | |
2 | g.166277290A>G | CA59794809 | SCN1A-AS1,SCN9A | c.2567T>C (p.Ile856Thr) c.2534T>C (p.Ile845Thr) c.224T>C (p.Ile75Thr) c.1569T>C n.1029+43A>G c.2180T>C (p.Ile727Thr) c.1823T>C (p.Ile608Thr) n.2881T>C | dbSNP gnomAD v4 |
2 | g.166277290A>T | CA349078052 | SCN1A-AS1,SCN9A | c.2567T>A (p.Ile856Asn) c.2534T>A (p.Ile845Asn) c.224T>A (p.Ile75Asn) c.1569T>A n.1029+43A>T c.2180T>A (p.Ile727Asn) c.1823T>A (p.Ile608Asn) n.2881T>A | |
2 | g.166277291T>A | CA349078054 | SCN1A-AS1,SCN9A | c.2566A>T (p.Ile856Phe) c.2533A>T (p.Ile845Phe) c.223A>T (p.Ile75Phe) c.1568A>T n.1029+44T>A c.2179A>T (p.Ile727Phe) c.1822A>T (p.Ile608Phe) n.2880A>T | |
2 | g.166277291T>C | CA349078055 | SCN1A-AS1,SCN9A | c.2566A>G (p.Ile856Val) c.2533A>G (p.Ile845Val) c.223A>G (p.Ile75Val) c.1568A>G n.1029+44T>C c.2179A>G (p.Ile727Val) c.1822A>G (p.Ile608Val) n.2880A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277291T>G | CA349078053 | SCN1A-AS1,SCN9A | c.2566A>C (p.Ile856Leu) c.2533A>C (p.Ile845Leu) c.223A>C (p.Ile75Leu) c.1568A>C n.1029+44T>G c.2179A>C (p.Ile727Leu) c.1822A>C (p.Ile608Leu) n.2880A>C | |
2 | g.166277291T= | CA1304965527 | SCN1A-AS1,SCN9A | c.2566A= (p.Ile856=) c.2533A= (p.Ile845=) c.223A= (p.Ile75=) c.1568A= n.1029+44T= c.2179A= (p.Ile727=) c.1822A= (p.Ile608=) n.2880A= | |
2 | g.166277292C>A | CA429978226 | SCN1A-AS1,SCN9A | c.2565G>T (p.Leu855=) c.2532G>T (p.Leu844=) c.222G>T (p.Leu74=) c.1567G>T n.1029+45C>A c.2178G>T (p.Leu726=) c.1821G>T (p.Leu607=) n.2879G>T | |
2 | g.166277292C= | CA1304965535 | SCN1A-AS1,SCN9A | c.2565G= (p.Leu855=) c.2532G= (p.Leu844=) c.222G= (p.Leu74=) c.1567G= n.1029+45C= c.2178G= (p.Leu726=) c.1821G= (p.Leu607=) n.2879G= | |
2 | g.166277292C>G | CA429978227 | SCN1A-AS1,SCN9A | c.2565G>C (p.Leu855=) c.2532G>C (p.Leu844=) c.222G>C (p.Leu74=) c.1567G>C n.1029+45C>G c.2178G>C (p.Leu726=) c.1821G>C (p.Leu607=) n.2879G>C | gnomAD v4 |
2 | g.166277292C>T | CA429978228 | SCN1A-AS1,SCN9A | c.2565G>A (p.Leu855=) c.2532G>A (p.Leu844=) c.222G>A (p.Leu74=) c.1567G>A n.1029+45C>T c.2178G>A (p.Leu726=) c.1821G>A (p.Leu607=) n.2879G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166277293A>C | CA349078058 | SCN1A-AS1,SCN9A | c.2564T>G (p.Leu855Arg) c.2531T>G (p.Leu844Arg) c.221T>G (p.Leu74Arg) c.1566T>G n.1029+46A>C c.2177T>G (p.Leu726Arg) c.1820T>G (p.Leu607Arg) n.2878T>G | |
2 | g.166277293A>G | CA349078056 | SCN1A-AS1,SCN9A | c.2564T>C (p.Leu855Pro) c.2531T>C (p.Leu844Pro) c.221T>C (p.Leu74Pro) c.1566T>C n.1029+46A>G c.2177T>C (p.Leu726Pro) c.1820T>C (p.Leu607Pro) n.2878T>C | |
2 | g.166277293A>T | CA349078057 | SCN1A-AS1,SCN9A | c.2564T>A (p.Leu855Gln) c.2531T>A (p.Leu844Gln) c.221T>A (p.Leu74Gln) c.1566T>A n.1029+46A>T c.2177T>A (p.Leu726Gln) c.1820T>A (p.Leu607Gln) n.2878T>A | |
2 | g.166277294G>A | CA429978229 | SCN1A-AS1,SCN9A | c.2563C>T (p.Leu855=) c.2530C>T (p.Leu844=) c.220C>T (p.Leu74=) c.1565C>T n.1029+47G>A c.2176C>T (p.Leu726=) c.1819C>T (p.Leu607=) n.2877C>T | gnomAD v4 |
2 | g.166277294G>C | CA349078059 | SCN1A-AS1,SCN9A | c.2563C>G (p.Leu855Val) c.2530C>G (p.Leu844Val) c.220C>G (p.Leu74Val) c.1565C>G n.1029+47G>C c.2176C>G (p.Leu726Val) c.1819C>G (p.Leu607Val) n.2877C>G | |
2 | g.166277294G>T | CA349078060 | SCN1A-AS1,SCN9A | c.2563C>A (p.Leu855Met) c.2530C>A (p.Leu844Met) c.220C>A (p.Leu74Met) c.1565C>A n.1029+47G>T c.2176C>A (p.Leu726Met) c.1819C>A (p.Leu607Met) n.2877C>A | |
2 | g.166277295C>A | CA349078061 | SCN1A-AS1,SCN9A | c.2562G>T (p.Met854Ile) c.2529G>T (p.Met843Ile) c.219G>T (p.Met73Ile) c.1564G>T n.1029+48C>A c.2175G>T (p.Met725Ile) c.1818G>T (p.Met606Ile) n.2876G>T | |
2 | g.166277295C= | CA1304965541 | SCN1A-AS1,SCN9A | c.2562G= (p.Met854=) c.2529G= (p.Met843=) c.219G= (p.Met73=) c.1564G= n.1029+48C= c.2175G= (p.Met725=) c.1818G= (p.Met606=) n.2876G= | |
2 | g.166277295C>G | CA349078062 | SCN1A-AS1,SCN9A | c.2562G>C (p.Met854Ile) c.2529G>C (p.Met843Ile) c.219G>C (p.Met73Ile) c.1564G>C n.1029+48C>G c.2175G>C (p.Met725Ile) c.1818G>C (p.Met606Ile) n.2876G>C | |
2 | g.166277295C>T | CA349078063 | SCN1A-AS1,SCN9A | c.2562G>A (p.Met854Ile) c.2529G>A (p.Met843Ile) c.219G>A (p.Met73Ile) c.1564G>A n.1029+48C>T c.2175G>A (p.Met725Ile) c.1818G>A (p.Met606Ile) n.2876G>A | dbSNP gnomAD v4 |
2 | g.166277296A= | CA1304965543 | SCN1A-AS1,SCN9A | c.2561T= (p.Met854=) c.2528T= (p.Met843=) c.218T= (p.Met73=) c.1563T= n.1029+49A= c.2174T= (p.Met725=) c.1817T= (p.Met606=) n.2875T= | |
2 | g.166277296A>C | CA349078064 | SCN1A-AS1,SCN9A | c.2561T>G (p.Met854Arg) c.2528T>G (p.Met843Arg) c.218T>G (p.Met73Arg) c.1563T>G n.1029+49A>C c.2174T>G (p.Met725Arg) c.1817T>G (p.Met606Arg) n.2875T>G | |
2 | g.166277296A>G | CA59794827 | SCN1A-AS1,SCN9A | c.2561T>C (p.Met854Thr) c.2528T>C (p.Met843Thr) c.218T>C (p.Met73Thr) c.1563T>C n.1029+49A>G c.2174T>C (p.Met725Thr) c.1817T>C (p.Met606Thr) n.2875T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277296A>T | CA349078065 | SCN1A-AS1,SCN9A | c.2561T>A (p.Met854Lys) c.2528T>A (p.Met843Lys) c.218T>A (p.Met73Lys) c.1563T>A n.1029+49A>T c.2174T>A (p.Met725Lys) c.1817T>A (p.Met606Lys) n.2875T>A | |
2 | g.166277297T>A | CA349078066 | SCN1A-AS1,SCN9A | c.2560A>T (p.Met854Leu) c.2527A>T (p.Met843Leu) c.217A>T (p.Met73Leu) c.1562A>T n.1029+50T>A c.2173A>T (p.Met725Leu) c.1816A>T (p.Met606Leu) n.2874A>T | |
2 | g.166277297T>C | CA349078067 | SCN1A-AS1,SCN9A | c.2560A>G (p.Met854Val) c.2527A>G (p.Met843Val) c.217A>G (p.Met73Val) c.1562A>G n.1029+50T>C c.2173A>G (p.Met725Val) c.1816A>G (p.Met606Val) n.2874A>G | |
2 | g.166277297T>G | CA349078068 | SCN1A-AS1,SCN9A | c.2560A>C (p.Met854Leu) c.2527A>C (p.Met843Leu) c.217A>C (p.Met73Leu) c.1562A>C n.1029+50T>G c.2173A>C (p.Met725Leu) c.1816A>C (p.Met606Leu) n.2874A>C | |
2 | g.166277298G>A | CA1944237 | SCN1A-AS1,SCN9A | c.2559C>T (p.Asn853=) c.2526C>T (p.Asn842=) c.216C>T (p.Asn72=) c.1561C>T n.1029+51G>A c.2172C>T (p.Asn724=) c.1815C>T (p.Asn605=) n.2873C>T | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.166277298G>C | CA349078069 | SCN1A-AS1,SCN9A | c.2559C>G (p.Asn853Lys) c.2526C>G (p.Asn842Lys) c.216C>G (p.Asn72Lys) c.1561C>G n.1029+51G>C c.2172C>G (p.Asn724Lys) c.1815C>G (p.Asn605Lys) n.2873C>G | |
2 | g.166277298G= | CA1304965548 | SCN1A-AS1,SCN9A | c.2559C= (p.Asn853=) c.2526C= (p.Asn842=) c.216C= (p.Asn72=) c.1561C= n.1029+51G= c.2172C= (p.Asn724=) c.1815C= (p.Asn605=) n.2873C= | |
2 | g.166277298G>T | CA349078070 | SCN1A-AS1,SCN9A | c.2559C>A (p.Asn853Lys) c.2526C>A (p.Asn842Lys) c.216C>A (p.Asn72Lys) c.1561C>A n.1029+51G>T c.2172C>A (p.Asn724Lys) c.1815C>A (p.Asn605Lys) n.2873C>A | |
2 | g.166277299T>A | CA349078071 | SCN1A-AS1,SCN9A | c.2558A>T (p.Asn853Ile) c.2525A>T (p.Asn842Ile) c.215A>T (p.Asn72Ile) c.1560A>T n.1029+52T>A c.2171A>T (p.Asn724Ile) c.1814A>T (p.Asn605Ile) n.2872A>T | gnomAD v4 |
2 | g.166277299T>C | CA349078072 | SCN1A-AS1,SCN9A | c.2558A>G (p.Asn853Ser) c.2525A>G (p.Asn842Ser) c.215A>G (p.Asn72Ser) c.1560A>G n.1029+52T>C c.2171A>G (p.Asn724Ser) c.1814A>G (p.Asn605Ser) n.2872A>G | |
2 | g.166277299T>G | CA349078073 | SCN1A-AS1,SCN9A | c.2558A>C (p.Asn853Thr) c.2525A>C (p.Asn842Thr) c.215A>C (p.Asn72Thr) c.1560A>C n.1029+52T>G c.2171A>C (p.Asn724Thr) c.1814A>C (p.Asn605Thr) n.2872A>C | |
2 | g.166277300T>A | CA349078074 | SCN1A-AS1,SCN9A | c.2557A>T (p.Asn853Tyr) c.2524A>T (p.Asn842Tyr) c.214A>T (p.Asn72Tyr) c.1559A>T n.1029+53T>A c.2170A>T (p.Asn724Tyr) c.1813A>T (p.Asn605Tyr) n.2871A>T | |
2 | g.166277300T>C | CA349078075 | SCN1A-AS1,SCN9A | c.2557A>G (p.Asn853Asp) c.2524A>G (p.Asn842Asp) c.214A>G (p.Asn72Asp) c.1559A>G n.1029+53T>C c.2170A>G (p.Asn724Asp) c.1813A>G (p.Asn605Asp) n.2871A>G | |
2 | g.166277300T>G | CA349078076 | SCN1A-AS1,SCN9A | c.2557A>C (p.Asn853His) c.2524A>C (p.Asn842His) c.214A>C (p.Asn72His) c.1559A>C n.1029+53T>G c.2170A>C (p.Asn724His) c.1813A>C (p.Asn605His) n.2871A>C | |
2 | g.166277301C>A | CA349078077 | SCN1A-AS1,SCN9A | c.2556G>T (p.Leu852Phe) c.2523G>T (p.Leu841Phe) c.213G>T (p.Leu71Phe) c.1558G>T n.1029+54C>A c.2169G>T (p.Leu723Phe) c.1812G>T (p.Leu604Phe) n.2870G>T | |
2 | g.166277301C= | CA1304965559 | SCN1A-AS1,SCN9A | c.2556G= (p.Leu852=) c.2523G= (p.Leu841=) c.213G= (p.Leu71=) c.1558G= n.1029+54C= c.2169G= (p.Leu723=) c.1812G= (p.Leu604=) n.2870G= | |
2 | g.166277301C>G | CA349078078 | SCN1A-AS1,SCN9A | c.2556G>C (p.Leu852Phe) c.2523G>C (p.Leu841Phe) c.213G>C (p.Leu71Phe) c.1558G>C n.1029+54C>G c.2169G>C (p.Leu723Phe) c.1812G>C (p.Leu604Phe) n.2870G>C | |
2 | g.166277301C>T | CA1944238 | SCN1A-AS1,SCN9A | c.2556G>A (p.Leu852=) c.2523G>A (p.Leu841=) c.213G>A (p.Leu71=) c.1558G>A n.1029+54C>T c.2169G>A (p.Leu723=) c.1812G>A (p.Leu604=) n.2870G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277302A= | CA1304965568 | SCN1A-AS1,SCN9A | c.2555T= (p.Leu852=) c.2522T= (p.Leu841=) c.212T= (p.Leu71=) c.1557T= n.1029+55A= c.2168T= (p.Leu723=) c.1811T= (p.Leu604=) n.2869T= | |
2 | g.166277302A>C | CA349078079 | SCN1A-AS1,SCN9A | c.2555T>G (p.Leu852Trp) c.2522T>G (p.Leu841Trp) c.212T>G (p.Leu71Trp) c.1557T>G n.1029+55A>C c.2168T>G (p.Leu723Trp) c.1811T>G (p.Leu604Trp) n.2869T>G | |
2 | g.166277302A>G | CA349078080 | SCN1A-AS1,SCN9A | c.2555T>C (p.Leu852Ser) c.2522T>C (p.Leu841Ser) c.212T>C (p.Leu71Ser) c.1557T>C n.1029+55A>G c.2168T>C (p.Leu723Ser) c.1811T>C (p.Leu604Ser) n.2869T>C | |
2 | g.166277302A>T | CA349078081 | SCN1A-AS1,SCN9A | c.2555T>A (p.Leu852Ter) c.2522T>A (p.Leu841Ter) c.212T>A (p.Leu71Ter) c.1557T>A n.1029+55A>T c.2168T>A (p.Leu723Ter) c.1811T>A (p.Leu604Ter) n.2869T>A | dbSNP |
2 | g.166277303A= | CA1304965581 | SCN1A-AS1,SCN9A | c.2554T= (p.Leu852=) c.2521T= (p.Leu841=) c.211T= (p.Leu71=) c.1556T= n.1029+56A= c.2167T= (p.Leu723=) c.1810T= (p.Leu604=) n.2868T= | |
2 | g.166277303A>C | CA349078083 | SCN1A-AS1,SCN9A | c.2554T>G (p.Leu852Val) c.2521T>G (p.Leu841Val) c.211T>G (p.Leu71Val) c.1556T>G n.1029+56A>C c.2167T>G (p.Leu723Val) c.1810T>G (p.Leu604Val) n.2868T>G | |
2 | g.166277303A>G | CA1944239 | SCN1A-AS1,SCN9A | c.2554T>C (p.Leu852=) c.2521T>C (p.Leu841=) c.211T>C (p.Leu71=) c.1556T>C n.1029+56A>G c.2167T>C (p.Leu723=) c.1810T>C (p.Leu604=) n.2868T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277303A>T | CA349078082 | SCN1A-AS1,SCN9A | c.2554T>A (p.Leu852Met) c.2521T>A (p.Leu841Met) c.211T>A (p.Leu71Met) c.1556T>A n.1029+56A>T c.2167T>A (p.Leu723Met) c.1810T>A (p.Leu604Met) n.2868T>A | |
2 | g.166277303_166277304delinsAT | CA1304965579 | SCN1A-AS1,SCN9A | c.2553_2554delinsAT (p.Thr851=) c.2520_2521delinsAT (p.Thr840=) c.210_211delinsAT (p.Thr70=) c.1555_1556delinsAT n.1029+56_1029+57delinsAT c.2166_2167delinsAT (p.Thr722=) c.1809_1810delinsAT (p.Thr603=) n.2867_2868delinsAT | |
2 | g.166277304del | CA1944240 | SCN1A-AS1,SCN9A | c.2553del (p.Leu852Ter) c.2520del (p.Leu841Ter) c.210del (p.Leu71Ter) c.1555del n.1029+57del c.2166del (p.Leu723Ter) c.1809del (p.Leu604Ter) n.2867del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277304T>A | CA429978230 | SCN1A-AS1,SCN9A | c.2553A>T (p.Thr851=) c.2520A>T (p.Thr840=) c.210A>T (p.Thr70=) c.1555A>T n.1029+57T>A c.2166A>T (p.Thr722=) c.1809A>T (p.Thr603=) n.2867A>T | |
2 | g.166277304T>C | CA1944241 | SCN1A-AS1,SCN9A | c.2553A>G (p.Thr851=) c.2520A>G (p.Thr840=) c.210A>G (p.Thr70=) c.1555A>G n.1029+57T>C c.2166A>G (p.Thr722=) c.1809A>G (p.Thr603=) n.2867A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277304T>G | CA429978231 | SCN1A-AS1,SCN9A | c.2553A>C (p.Thr851=) c.2520A>C (p.Thr840=) c.210A>C (p.Thr70=) c.1555A>C n.1029+57T>G c.2166A>C (p.Thr722=) c.1809A>C (p.Thr603=) n.2867A>C | |
2 | g.166277304T= | CA1304965590 | SCN1A-AS1,SCN9A | c.2553A= (p.Thr851=) c.2520A= (p.Thr840=) c.210A= (p.Thr70=) c.1555A= n.1029+57T= c.2166A= (p.Thr722=) c.1809A= (p.Thr603=) n.2867A= | |
2 | g.166277305G>A | CA349078084 | SCN1A-AS1,SCN9A | c.2552C>T (p.Thr851Ile) c.2519C>T (p.Thr840Ile) c.209C>T (p.Thr70Ile) c.1554C>T n.1029+58G>A c.2165C>T (p.Thr722Ile) c.1808C>T (p.Thr603Ile) n.2866C>T | gnomAD v4 |
2 | g.166277305G>C | CA349078085 | SCN1A-AS1,SCN9A | c.2552C>G (p.Thr851Arg) c.2519C>G (p.Thr840Arg) c.209C>G (p.Thr70Arg) c.1554C>G n.1029+58G>C c.2165C>G (p.Thr722Arg) c.1808C>G (p.Thr603Arg) n.2866C>G | |
2 | g.166277305G= | CA1304965594 | SCN1A-AS1,SCN9A | c.2552C= (p.Thr851=) c.2519C= (p.Thr840=) c.209C= (p.Thr70=) c.1554C= n.1029+58G= c.2165C= (p.Thr722=) c.1808C= (p.Thr603=) n.2866C= | |
2 | g.166277305G>T | CA349078086 | SCN1A-AS1,SCN9A | c.2552C>A (p.Thr851Lys) c.2519C>A (p.Thr840Lys) c.209C>A (p.Thr70Lys) c.1554C>A n.1029+58G>T c.2165C>A (p.Thr722Lys) c.1808C>A (p.Thr603Lys) n.2866C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277306T>A | CA349078087 | SCN1A-AS1,SCN9A | c.2551A>T (p.Thr851Ser) c.2518A>T (p.Thr840Ser) c.208A>T (p.Thr70Ser) c.1553A>T n.1029+59T>A c.2164A>T (p.Thr722Ser) c.1807A>T (p.Thr603Ser) n.2865A>T | |
2 | g.166277306T>C | CA349078088 | SCN1A-AS1,SCN9A | c.2551A>G (p.Thr851Ala) c.2518A>G (p.Thr840Ala) c.208A>G (p.Thr70Ala) c.1553A>G n.1029+59T>C c.2164A>G (p.Thr722Ala) c.1807A>G (p.Thr603Ala) n.2865A>G | COSMIC COSMIC |
2 | g.166277306T>G | CA349078089 | SCN1A-AS1,SCN9A | c.2551A>C (p.Thr851Pro) c.2518A>C (p.Thr840Pro) c.208A>C (p.Thr70Pro) c.1553A>C n.1029+59T>G c.2164A>C (p.Thr722Pro) c.1807A>C (p.Thr603Pro) n.2865A>C | |
2 | g.166277307T>A | CA429978232 | SCN1A-AS1,SCN9A | c.2550A>T (p.Pro850=) c.2517A>T (p.Pro839=) c.207A>T (p.Pro69=) c.1552A>T n.1029+60T>A c.2163A>T (p.Pro721=) c.1806A>T (p.Pro602=) n.2864A>T | |
2 | g.166277307T>C | CA1944242 | SCN1A-AS1,SCN9A | c.2550A>G (p.Pro850=) c.2517A>G (p.Pro839=) c.207A>G (p.Pro69=) c.1552A>G n.1029+60T>C c.2163A>G (p.Pro721=) c.1806A>G (p.Pro602=) n.2864A>G | dbSNP ExAC gnomAD v2 |
2 | g.166277307T>G | CA429978233 | SCN1A-AS1,SCN9A | c.2550A>C (p.Pro850=) c.2517A>C (p.Pro839=) c.207A>C (p.Pro69=) c.1552A>C n.1029+60T>G c.2163A>C (p.Pro721=) c.1806A>C (p.Pro602=) n.2864A>C | |
2 | g.166277307T= | CA1304965599 | SCN1A-AS1,SCN9A | c.2550A= (p.Pro850=) c.2517A= (p.Pro839=) c.207A= (p.Pro69=) c.1552A= n.1029+60T= c.2163A= (p.Pro721=) c.1806A= (p.Pro602=) n.2864A= | |
2 | g.166277308G>A | CA349078090 | SCN1A-AS1,SCN9A | c.2549C>T (p.Pro850Leu) c.2516C>T (p.Pro839Leu) c.206C>T (p.Pro69Leu) c.1551C>T n.1029+61G>A c.2162C>T (p.Pro721Leu) c.1805C>T (p.Pro602Leu) n.2863C>T | gnomAD v4 |
2 | g.166277308G>C | CA349078091 | SCN1A-AS1,SCN9A | c.2549C>G (p.Pro850Arg) c.2516C>G (p.Pro839Arg) c.206C>G (p.Pro69Arg) c.1551C>G n.1029+61G>C c.2162C>G (p.Pro721Arg) c.1805C>G (p.Pro602Arg) n.2863C>G | |
2 | g.166277308G>T | CA349078092 | SCN1A-AS1,SCN9A | c.2549C>A (p.Pro850Gln) c.2516C>A (p.Pro839Gln) c.206C>A (p.Pro69Gln) c.1551C>A n.1029+61G>T c.2162C>A (p.Pro721Gln) c.1805C>A (p.Pro602Gln) n.2863C>A | |
2 | g.166277309G>A | CA349078093 | SCN1A-AS1,SCN9A | c.2548C>T (p.Pro850Ser) c.2515C>T (p.Pro839Ser) c.205C>T (p.Pro69Ser) c.1550C>T n.1029+62G>A c.2161C>T (p.Pro721Ser) c.1804C>T (p.Pro602Ser) n.2862C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277309G>C | CA349078094 | SCN1A-AS1,SCN9A | c.2548C>G (p.Pro850Ala) c.2515C>G (p.Pro839Ala) c.205C>G (p.Pro69Ala) c.1550C>G n.1029+62G>C c.2161C>G (p.Pro721Ala) c.1804C>G (p.Pro602Ala) n.2862C>G | |
2 | g.166277309G= | CA1304965605 | SCN1A-AS1,SCN9A | c.2548C= (p.Pro850=) c.2515C= (p.Pro839=) c.205C= (p.Pro69=) c.1550C= n.1029+62G= c.2161C= (p.Pro721=) c.1804C= (p.Pro602=) n.2862C= | |
2 | g.166277309G>T | CA349078095 | SCN1A-AS1,SCN9A | c.2548C>A (p.Pro850Thr) c.2515C>A (p.Pro839Thr) c.205C>A (p.Pro69Thr) c.1550C>A n.1029+62G>T c.2161C>A (p.Pro721Thr) c.1804C>A (p.Pro602Thr) n.2862C>A | |
2 | g.166277310C>A | CA349078096 | SCN1A-AS1,SCN9A | c.2547G>T (p.Trp849Cys) c.2514G>T (p.Trp838Cys) c.204G>T (p.Trp68Cys) c.1549G>T n.1029+63C>A c.2160G>T (p.Trp720Cys) c.1803G>T (p.Trp601Cys) n.2861G>T | gnomAD v4 |
2 | g.166277310C= | CA1304965608 | SCN1A-AS1,SCN9A | c.2547G= (p.Trp849=) c.2514G= (p.Trp838=) c.204G= (p.Trp68=) c.1549G= n.1029+63C= c.2160G= (p.Trp720=) c.1803G= (p.Trp601=) n.2861G= | |
2 | g.166277310C>G | CA349078098 | SCN1A-AS1,SCN9A | c.2547G>C (p.Trp849Cys) c.2514G>C (p.Trp838Cys) c.204G>C (p.Trp68Cys) c.1549G>C n.1029+63C>G c.2160G>C (p.Trp720Cys) c.1803G>C (p.Trp601Cys) n.2861G>C | |
2 | g.166277310C>T | CA349078097 | SCN1A-AS1,SCN9A | c.2547G>A (p.Trp849Ter) c.2514G>A (p.Trp838Ter) c.204G>A (p.Trp68Ter) c.1549G>A n.1029+63C>T c.2160G>A (p.Trp720Ter) c.1803G>A (p.Trp601Ter) n.2861G>A | dbSNP |
2 | g.166277311C>A | CA349078099 | SCN1A-AS1,SCN9A | c.2546G>T (p.Trp849Leu) c.2513G>T (p.Trp838Leu) c.203G>T (p.Trp68Leu) c.1548G>T n.1029+64C>A c.2159G>T (p.Trp720Leu) c.1802G>T (p.Trp601Leu) n.2860G>T | |
2 | g.166277311C>G | CA349078100 | SCN1A-AS1,SCN9A | c.2546G>C (p.Trp849Ser) c.2513G>C (p.Trp838Ser) c.203G>C (p.Trp68Ser) c.1548G>C n.1029+64C>G c.2159G>C (p.Trp720Ser) c.1802G>C (p.Trp601Ser) n.2860G>C | |
2 | g.166277311C>T | CA349078101 | SCN1A-AS1,SCN9A | c.2546G>A (p.Trp849Ter) c.2513G>A (p.Trp838Ter) c.203G>A (p.Trp68Ter) c.1548G>A n.1029+64C>T c.2159G>A (p.Trp720Ter) c.1802G>A (p.Trp601Ter) n.2860G>A | gnomAD v4 |
2 | g.166277312A>C | CA349078102 | SCN1A-AS1,SCN9A | c.2545T>G (p.Trp849Gly) c.2512T>G (p.Trp838Gly) c.202T>G (p.Trp68Gly) c.1547T>G n.1029+65A>C c.2158T>G (p.Trp720Gly) c.1801T>G (p.Trp601Gly) n.2859T>G | |
2 | g.166277312A>G | CA349078103 | SCN1A-AS1,SCN9A | c.2545T>C (p.Trp849Arg) c.2512T>C (p.Trp838Arg) c.202T>C (p.Trp68Arg) c.1547T>C n.1029+65A>G c.2158T>C (p.Trp720Arg) c.1801T>C (p.Trp601Arg) n.2859T>C | |
2 | g.166277312A>T | CA349078104 | SCN1A-AS1,SCN9A | c.2545T>A (p.Trp849Arg) c.2512T>A (p.Trp838Arg) c.202T>A (p.Trp68Arg) c.1547T>A n.1029+65A>T c.2158T>A (p.Trp720Arg) c.1801T>A (p.Trp601Arg) n.2859T>A | |
2 | g.166277313G>A | CA429978234 | SCN1A-AS1,SCN9A | c.2544C>T (p.Ser848=) c.2511C>T (p.Ser837=) c.201C>T (p.Ser67=) c.1546C>T n.1029+66G>A c.2157C>T (p.Ser719=) c.1800C>T (p.Ser600=) n.2858C>T | COSMIC COSMIC |
2 | g.166277313G>C | CA429978235 | SCN1A-AS1,SCN9A | c.2544C>G (p.Ser848=) c.2511C>G (p.Ser837=) c.201C>G (p.Ser67=) c.1546C>G n.1029+66G>C c.2157C>G (p.Ser719=) c.1800C>G (p.Ser600=) n.2858C>G | |
2 | g.166277313G>T | CA429978236 | SCN1A-AS1,SCN9A | c.2544C>A (p.Ser848=) c.2511C>A (p.Ser837=) c.201C>A (p.Ser67=) c.1546C>A n.1029+66G>T c.2157C>A (p.Ser719=) c.1800C>A (p.Ser600=) n.2858C>A | |
2 | g.166277314G>A | CA349078105 | SCN1A-AS1,SCN9A | c.2543C>T (p.Ser848Phe) c.2510C>T (p.Ser837Phe) c.200C>T (p.Ser67Phe) c.1545C>T n.1029+67G>A c.2156C>T (p.Ser719Phe) c.1799C>T (p.Ser600Phe) n.2857C>T | |
2 | g.166277314G>C | CA1944243 | SCN1A-AS1,SCN9A | c.2543C>G (p.Ser848Cys) c.2510C>G (p.Ser837Cys) c.200C>G (p.Ser67Cys) c.1545C>G n.1029+67G>C c.2156C>G (p.Ser719Cys) c.1799C>G (p.Ser600Cys) n.2857C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277314G= | CA1304965614 | SCN1A-AS1,SCN9A | c.2543C= (p.Ser848=) c.2510C= (p.Ser837=) c.200C= (p.Ser67=) c.1545C= n.1029+67G= c.2156C= (p.Ser719=) c.1799C= (p.Ser600=) n.2857C= | |
2 | g.166277314G>T | CA349078106 | SCN1A-AS1,SCN9A | c.2543C>A (p.Ser848Tyr) c.2510C>A (p.Ser837Tyr) c.200C>A (p.Ser67Tyr) c.1545C>A n.1029+67G>T c.2156C>A (p.Ser719Tyr) c.1799C>A (p.Ser600Tyr) n.2857C>A | |
2 | g.166277315A>C | CA349078107 | SCN1A-AS1,SCN9A | c.2542T>G (p.Ser848Ala) c.2509T>G (p.Ser837Ala) c.199T>G (p.Ser67Ala) c.1544T>G n.1029+68A>C c.2155T>G (p.Ser719Ala) c.1798T>G (p.Ser600Ala) n.2856T>G | |
2 | g.166277315A>G | CA349078108 | SCN1A-AS1,SCN9A | c.2542T>C (p.Ser848Pro) c.2509T>C (p.Ser837Pro) c.199T>C (p.Ser67Pro) c.1544T>C n.1029+68A>G c.2155T>C (p.Ser719Pro) c.1798T>C (p.Ser600Pro) n.2856T>C | |
2 | g.166277315A>T | CA349078109 | SCN1A-AS1,SCN9A | c.2542T>A (p.Ser848Thr) c.2509T>A (p.Ser837Thr) c.199T>A (p.Ser67Thr) c.1544T>A n.1029+68A>T c.2155T>A (p.Ser719Thr) c.1798T>A (p.Ser600Thr) n.2856T>A | |
2 | g.166277316T>A | CA349078110 | SCN1A-AS1,SCN9A | c.2541A>T (p.Lys847Asn) c.2508A>T (p.Lys836Asn) c.198A>T (p.Lys66Asn) c.1543A>T n.1029+69T>A c.2154A>T (p.Lys718Asn) c.1797A>T (p.Lys599Asn) n.2855A>T | |
2 | g.166277316T>C | CA429978237 | SCN1A-AS1,SCN9A | c.2541A>G (p.Lys847=) c.2508A>G (p.Lys836=) c.198A>G (p.Lys66=) c.1543A>G n.1029+69T>C c.2154A>G (p.Lys718=) c.1797A>G (p.Lys599=) n.2855A>G | |
2 | g.166277316T>G | CA1944244 | SCN1A-AS1,SCN9A | c.2541A>C (p.Lys847Asn) c.2508A>C (p.Lys836Asn) c.198A>C (p.Lys66Asn) c.1543A>C n.1029+69T>G c.2154A>C (p.Lys718Asn) c.1797A>C (p.Lys599Asn) n.2855A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277316T= | CA1304965616 | SCN1A-AS1,SCN9A | c.2541A= (p.Lys847=) c.2508A= (p.Lys836=) c.198A= (p.Lys66=) c.1543A= n.1029+69T= c.2154A= (p.Lys718=) c.1797A= (p.Lys599=) n.2855A= | |
2 | g.166277317T>A | CA349078111 | SCN1A-AS1,SCN9A | c.2540A>T (p.Lys847Ile) c.2507A>T (p.Lys836Ile) c.197A>T (p.Lys66Ile) c.1542A>T n.1029+70T>A c.2153A>T (p.Lys718Ile) c.1796A>T (p.Lys599Ile) n.2854A>T | |
2 | g.166277317T>C | CA1944246 | SCN1A-AS1,SCN9A | c.2540A>G (p.Lys847Arg) c.2507A>G (p.Lys836Arg) c.197A>G (p.Lys66Arg) c.1542A>G n.1029+70T>C c.2153A>G (p.Lys718Arg) c.1796A>G (p.Lys599Arg) n.2854A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277317T>G | CA1944245 | SCN1A-AS1,SCN9A | c.2540A>C (p.Lys847Thr) c.2507A>C (p.Lys836Thr) c.197A>C (p.Lys66Thr) c.1542A>C n.1029+70T>G c.2153A>C (p.Lys718Thr) c.1796A>C (p.Lys599Thr) n.2854A>C | dbSNP ExAC gnomAD v2 |
2 | g.166277317T= | CA1304965620 | SCN1A-AS1,SCN9A | c.2540A= (p.Lys847=) c.2507A= (p.Lys836=) c.197A= (p.Lys66=) c.1542A= n.1029+70T= c.2153A= (p.Lys718=) c.1796A= (p.Lys599=) n.2854A= | |
2 | g.166277318T>A | CA59794894 | SCN1A-AS1,SCN9A | c.2539A>T (p.Lys847Ter) c.2506A>T (p.Lys836Ter) c.196A>T (p.Lys66Ter) c.1541A>T n.1029+71T>A c.2152A>T (p.Lys718Ter) c.1795A>T (p.Lys599Ter) n.2853A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277318T>C | CA349078112 | SCN1A-AS1,SCN9A | c.2539A>G (p.Lys847Glu) c.2506A>G (p.Lys836Glu) c.196A>G (p.Lys66Glu) c.1541A>G n.1029+71T>C c.2152A>G (p.Lys718Glu) c.1795A>G (p.Lys599Glu) n.2853A>G | ClinVar dbSNP gnomAD v4 |
2 | g.166277318T>G | CA349078113 | SCN1A-AS1,SCN9A | c.2539A>C (p.Lys847Gln) c.2506A>C (p.Lys836Gln) c.196A>C (p.Lys66Gln) c.1541A>C n.1029+71T>G c.2152A>C (p.Lys718Gln) c.1795A>C (p.Lys599Gln) n.2853A>C | |
2 | g.166277318T= | CA1304965626 | SCN1A-AS1,SCN9A | c.2539A= (p.Lys847=) c.2506A= (p.Lys836=) c.196A= (p.Lys66=) c.1541A= n.1029+71T= c.2152A= (p.Lys718=) c.1795A= (p.Lys599=) n.2853A= | |
2 | g.166277319T>A | CA429978238 | SCN1A-AS1,SCN9A | c.2538A>T (p.Ala846=) c.2505A>T (p.Ala835=) c.195A>T (p.Ala65=) c.1540A>T n.1029+72T>A c.2151A>T (p.Ala717=) c.1794A>T (p.Ala598=) n.2852A>T | |
2 | g.166277319T>C | CA59794899 | SCN1A-AS1,SCN9A | c.2538A>G (p.Ala846=) c.2505A>G (p.Ala835=) c.195A>G (p.Ala65=) c.1540A>G n.1029+72T>C c.2151A>G (p.Ala717=) c.1794A>G (p.Ala598=) n.2852A>G | ClinVar dbSNP gnomAD v4 |
2 | g.166277319T>G | CA429978239 | SCN1A-AS1,SCN9A | c.2538A>C (p.Ala846=) c.2505A>C (p.Ala835=) c.195A>C (p.Ala65=) c.1540A>C n.1029+72T>G c.2151A>C (p.Ala717=) c.1794A>C (p.Ala598=) n.2852A>C | |
2 | g.166277319T= | CA1304965628 | SCN1A-AS1,SCN9A | c.2538A= (p.Ala846=) c.2505A= (p.Ala835=) c.195A= (p.Ala65=) c.1540A= n.1029+72T= c.2151A= (p.Ala717=) c.1794A= (p.Ala598=) n.2852A= | |
2 | g.166277320G>A | CA349078114 | SCN1A-AS1,SCN9A | c.2537C>T (p.Ala846Val) c.2504C>T (p.Ala835Val) c.194C>T (p.Ala65Val) c.1539C>T n.1029+73G>A c.2150C>T (p.Ala717Val) c.1793C>T (p.Ala598Val) n.2851C>T | |
2 | g.166277320G>C | CA349078115 | SCN1A-AS1,SCN9A | c.2537C>G (p.Ala846Gly) c.2504C>G (p.Ala835Gly) c.194C>G (p.Ala65Gly) c.1539C>G n.1029+73G>C c.2150C>G (p.Ala717Gly) c.1793C>G (p.Ala598Gly) n.2851C>G | |
2 | g.166277320G>T | CA349078116 | SCN1A-AS1,SCN9A | c.2537C>A (p.Ala846Glu) c.2504C>A (p.Ala835Glu) c.194C>A (p.Ala65Glu) c.1539C>A n.1029+73G>T c.2150C>A (p.Ala717Glu) c.1793C>A (p.Ala598Glu) n.2851C>A | |
2 | g.166277321C>A | CA349078117 | SCN1A-AS1,SCN9A | c.2536G>T (p.Ala846Ser) c.2503G>T (p.Ala835Ser) c.193G>T (p.Ala65Ser) c.1538G>T n.1029+74C>A c.2149G>T (p.Ala717Ser) c.1792G>T (p.Ala598Ser) n.2850G>T | |
2 | g.166277321C>G | CA349078118 | SCN1A-AS1,SCN9A | c.2536G>C (p.Ala846Pro) c.2503G>C (p.Ala835Pro) c.193G>C (p.Ala65Pro) c.1538G>C n.1029+74C>G c.2149G>C (p.Ala717Pro) c.1792G>C (p.Ala598Pro) n.2850G>C | |
2 | g.166277321C>T | CA349078119 | SCN1A-AS1,SCN9A | c.2536G>A (p.Ala846Thr) c.2503G>A (p.Ala835Thr) c.193G>A (p.Ala65Thr) c.1538G>A n.1029+74C>T c.2149G>A (p.Ala717Thr) c.1792G>A (p.Ala598Thr) n.2850G>A | |
2 | g.166277322C>A | CA349078120 | SCN1A-AS1,SCN9A | c.2535G>T (p.Leu845Phe) c.2502G>T (p.Leu834Phe) c.192G>T (p.Leu64Phe) c.1537G>T n.1029+75C>A c.2148G>T (p.Leu716Phe) c.1791G>T (p.Leu597Phe) n.2849G>T | |
2 | g.166277322C>G | CA349078121 | SCN1A-AS1,SCN9A | c.2535G>C (p.Leu845Phe) c.2502G>C (p.Leu834Phe) c.192G>C (p.Leu64Phe) c.1537G>C n.1029+75C>G c.2148G>C (p.Leu716Phe) c.1791G>C (p.Leu597Phe) n.2849G>C | |
2 | g.166277322C>T | CA429978240 | SCN1A-AS1,SCN9A | c.2535G>A (p.Leu845=) c.2502G>A (p.Leu834=) c.192G>A (p.Leu64=) c.1537G>A n.1029+75C>T c.2148G>A (p.Leu716=) c.1791G>A (p.Leu597=) n.2849G>A | gnomAD v4 |
2 | g.166277323A= | CA1304965632 | SCN1A-AS1,SCN9A | c.2534T= (p.Leu845=) c.2501T= (p.Leu834=) c.191T= (p.Leu64=) c.1536T= n.1029+76A= c.2147T= (p.Leu716=) c.1790T= (p.Leu597=) n.2848T= | |
2 | g.166277323A>C | CA349078122 | SCN1A-AS1,SCN9A | c.2534T>G (p.Leu845Trp) c.2501T>G (p.Leu834Trp) c.191T>G (p.Leu64Trp) c.1536T>G n.1029+76A>C c.2147T>G (p.Leu716Trp) c.1790T>G (p.Leu597Trp) n.2848T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277323A>G | CA349078123 | SCN1A-AS1,SCN9A | c.2534T>C (p.Leu845Ser) c.2501T>C (p.Leu834Ser) c.191T>C (p.Leu64Ser) c.1536T>C n.1029+76A>G c.2147T>C (p.Leu716Ser) c.1790T>C (p.Leu597Ser) n.2848T>C | |
2 | g.166277323A>T | CA349078124 | SCN1A-AS1,SCN9A | c.2534T>A (p.Leu845Ter) c.2501T>A (p.Leu834Ter) c.191T>A (p.Leu64Ter) c.1536T>A n.1029+76A>T c.2147T>A (p.Leu716Ter) c.1790T>A (p.Leu597Ter) n.2848T>A | dbSNP |
2 | g.166277324A= | CA1304965634 | SCN1A-AS1,SCN9A | c.2533T= (p.Leu845=) c.2500T= (p.Leu834=) c.190T= (p.Leu64=) c.1535T= n.1029+77A= c.2146T= (p.Leu716=) c.1789T= (p.Leu597=) n.2847T= | |
2 | g.166277324A>C | CA349078126 | SCN1A-AS1,SCN9A | c.2533T>G (p.Leu845Val) c.2500T>G (p.Leu834Val) c.190T>G (p.Leu64Val) c.1535T>G n.1029+77A>C c.2146T>G (p.Leu716Val) c.1789T>G (p.Leu597Val) n.2847T>G | |
2 | g.166277324A>G | CA429978241 | SCN1A-AS1,SCN9A | c.2533T>C (p.Leu845=) c.2500T>C (p.Leu834=) c.190T>C (p.Leu64=) c.1535T>C n.1029+77A>G c.2146T>C (p.Leu716=) c.1789T>C (p.Leu597=) n.2847T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277324A>T | CA349078125 | SCN1A-AS1,SCN9A | c.2533T>A (p.Leu845Met) c.2500T>A (p.Leu834Met) c.190T>A (p.Leu64Met) c.1535T>A n.1029+77A>T c.2146T>A (p.Leu716Met) c.1789T>A (p.Leu597Met) n.2847T>A | |
2 | g.166277325C>A | CA349078127 | SCN1A-AS1,SCN9A | c.2532G>T (p.Lys844Asn) c.2499G>T (p.Lys833Asn) c.189G>T (p.Lys63Asn) c.1534G>T n.1029+78C>A c.2145G>T (p.Lys715Asn) c.1788G>T (p.Lys596Asn) n.2846G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277325C= | CA1304965636 | SCN1A-AS1,SCN9A | c.2532G= (p.Lys844=) c.2499G= (p.Lys833=) c.189G= (p.Lys63=) c.1534G= n.1029+78C= c.2145G= (p.Lys715=) c.1788G= (p.Lys596=) n.2846G= | |
2 | g.166277325C>G | CA349078128 | SCN1A-AS1,SCN9A | c.2532G>C (p.Lys844Asn) c.2499G>C (p.Lys833Asn) c.189G>C (p.Lys63Asn) c.1534G>C n.1029+78C>G c.2145G>C (p.Lys715Asn) c.1788G>C (p.Lys596Asn) n.2846G>C | |
2 | g.166277325C>T | CA429978243 | SCN1A-AS1,SCN9A | c.2532G>A (p.Lys844=) c.2499G>A (p.Lys833=) c.189G>A (p.Lys63=) c.1534G>A n.1029+78C>T c.2145G>A (p.Lys715=) c.1788G>A (p.Lys596=) n.2846G>A | ClinVar gnomAD v4 |
2 | g.166277326T>A | CA349078129 | SCN1A-AS1,SCN9A | c.2531A>T (p.Lys844Met) c.2498A>T (p.Lys833Met) c.188A>T (p.Lys63Met) c.1533A>T n.1029+79T>A c.2144A>T (p.Lys715Met) c.1787A>T (p.Lys596Met) n.2845A>T | gnomAD v4 |
2 | g.166277326T>C | CA349078130 | SCN1A-AS1,SCN9A | c.2531A>G (p.Lys844Arg) c.2498A>G (p.Lys833Arg) c.188A>G (p.Lys63Arg) c.1533A>G n.1029+79T>C c.2144A>G (p.Lys715Arg) c.1787A>G (p.Lys596Arg) n.2845A>G | |
2 | g.166277326T>G | CA349078131 | SCN1A-AS1,SCN9A | c.2531A>C (p.Lys844Thr) c.2498A>C (p.Lys833Thr) c.188A>C (p.Lys63Thr) c.1533A>C n.1029+79T>G c.2144A>C (p.Lys715Thr) c.1787A>C (p.Lys596Thr) n.2845A>C | gnomAD v4 |
2 | g.166277326_166277327delinsCG | CA2573133705 | SCN1A-AS1,SCN9A | c.2530_2531delinsCG (p.Lys844Arg) c.2497_2498delinsCG (p.Lys833Arg) c.187_188delinsCG (p.Lys63Arg) c.1532_1533delinsCG n.1029+79_1029+80delinsCG c.2143_2144delinsCG (p.Lys715Arg) c.1786_1787delinsCG (p.Lys596Arg) n.2844_2845delinsCG | ClinVar dbSNP |
2 | g.166277327T>A | CA349078132 | SCN1A-AS1,SCN9A | c.2530A>T (p.Lys844Ter) c.2497A>T (p.Lys833Ter) c.187A>T (p.Lys63Ter) c.1532A>T n.1029+80T>A c.2143A>T (p.Lys715Ter) c.1786A>T (p.Lys596Ter) n.2844A>T | dbSNP |
2 | g.166277327T>C | CA349078133 | SCN1A-AS1,SCN9A | c.2530A>G (p.Lys844Glu) c.2497A>G (p.Lys833Glu) c.187A>G (p.Lys63Glu) c.1532A>G n.1029+80T>C c.2143A>G (p.Lys715Glu) c.1786A>G (p.Lys596Glu) n.2844A>G | |
2 | g.166277327T>G | CA349078134 | SCN1A-AS1,SCN9A | c.2530A>C (p.Lys844Gln) c.2497A>C (p.Lys833Gln) c.187A>C (p.Lys63Gln) c.1532A>C n.1029+80T>G c.2143A>C (p.Lys715Gln) c.1786A>C (p.Lys596Gln) n.2844A>C | |
2 | g.166277327T= | CA1304965638 | SCN1A-AS1,SCN9A | c.2530A= (p.Lys844=) c.2497A= (p.Lys833=) c.187A= (p.Lys63=) c.1532A= n.1029+80T= c.2143A= (p.Lys715=) c.1786A= (p.Lys596=) n.2844A= | |
2 | g.166277328G>A | CA429978247 | SCN1A-AS1,SCN9A | c.2529C>T (p.Phe843=) c.2496C>T (p.Phe832=) c.186C>T (p.Phe62=) c.1531C>T n.1029+81G>A c.2142C>T (p.Phe714=) c.1785C>T (p.Phe595=) n.2843C>T | |
2 | g.166277328G>C | CA349078135 | SCN1A-AS1,SCN9A | c.2529C>G (p.Phe843Leu) c.2496C>G (p.Phe832Leu) c.186C>G (p.Phe62Leu) c.1531C>G n.1029+81G>C c.2142C>G (p.Phe714Leu) c.1785C>G (p.Phe595Leu) n.2843C>G | |
2 | g.166277328G>T | CA349078136 | SCN1A-AS1,SCN9A | c.2529C>A (p.Phe843Leu) c.2496C>A (p.Phe832Leu) c.186C>A (p.Phe62Leu) c.1531C>A n.1029+81G>T c.2142C>A (p.Phe714Leu) c.1785C>A (p.Phe595Leu) n.2843C>A |