Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166277051T>A | CA349077291 | SCN1A-AS1,SCN9A | c.2806A>T (p.Met936Leu) c.2773A>T (p.Met925Leu) c.463A>T (p.Met155Leu) c.1808A>T n.870-37T>A c.2419A>T (p.Met807Leu) c.2062A>T (p.Met688Leu) n.3120A>T | |
2 | g.166277051T>C | CA349077294 | SCN1A-AS1,SCN9A | c.2806A>G (p.Met936Val) c.2773A>G (p.Met925Val) c.463A>G (p.Met155Val) c.1808A>G n.870-37T>C c.2419A>G (p.Met807Val) c.2062A>G (p.Met688Val) n.3120A>G | dbSNP gnomAD v2 |
2 | g.166277051T>G | CA349077296 | SCN1A-AS1,SCN9A | c.2806A>C (p.Met936Leu) c.2773A>C (p.Met925Leu) c.463A>C (p.Met155Leu) c.1808A>C n.870-37T>G c.2419A>C (p.Met807Leu) c.2062A>C (p.Met688Leu) n.3120A>C | |
2 | g.166277051T= | CA1304964754 | SCN1A-AS1,SCN9A | c.2806A= (p.Met936=) c.2773A= (p.Met925=) c.463A= (p.Met155=) c.1808A= n.870-37T= c.2419A= (p.Met807=) c.2062A= (p.Met688=) n.3120A= | |
2 | g.166277052A= | CA1304964758 | SCN1A-AS1,SCN9A | c.2805T= (p.Cys935=) c.2772T= (p.Cys924=) c.462T= (p.Cys154=) c.1807T= n.870-36A= c.2418T= (p.Cys806=) c.2061T= (p.Cys687=) n.3119T= | |
2 | g.166277052A>C | CA349077300 | SCN1A-AS1,SCN9A | c.2805T>G (p.Cys935Trp) c.2772T>G (p.Cys924Trp) c.462T>G (p.Cys154Trp) c.1807T>G n.870-36A>C c.2418T>G (p.Cys806Trp) c.2061T>G (p.Cys687Trp) n.3119T>G | |
2 | g.166277052A>G | CA59794504 | SCN1A-AS1,SCN9A | c.2805T>C (p.Cys935=) c.2772T>C (p.Cys924=) c.462T>C (p.Cys154=) c.1807T>C n.870-36A>G c.2418T>C (p.Cys806=) c.2061T>C (p.Cys687=) n.3119T>C | dbSNP |
2 | g.166277052A>T | CA349077304 | SCN1A-AS1,SCN9A | c.2805T>A (p.Cys935Ter) c.2772T>A (p.Cys924Ter) c.462T>A (p.Cys154Ter) c.1807T>A n.870-36A>T c.2418T>A (p.Cys806Ter) c.2061T>A (p.Cys687Ter) n.3119T>A | |
2 | g.166277053C>A | CA349077307 | SCN1A-AS1,SCN9A | c.2804G>T (p.Cys935Phe) c.2771G>T (p.Cys924Phe) c.461G>T (p.Cys154Phe) c.1806G>T n.870-35C>A c.2417G>T (p.Cys806Phe) c.2060G>T (p.Cys687Phe) n.3118G>T | |
2 | g.166277053C= | CA1304964763 | SCN1A-AS1,SCN9A | c.2804G= (p.Cys935=) c.2771G= (p.Cys924=) c.461G= (p.Cys154=) c.1806G= n.870-35C= c.2417G= (p.Cys806=) c.2060G= (p.Cys687=) n.3118G= | |
2 | g.166277053C>G | CA349077311 | SCN1A-AS1,SCN9A | c.2804G>C (p.Cys935Ser) c.2771G>C (p.Cys924Ser) c.461G>C (p.Cys154Ser) c.1806G>C n.870-35C>G c.2417G>C (p.Cys806Ser) c.2060G>C (p.Cys687Ser) n.3118G>C | |
2 | g.166277053C>T | CA59794516 | SCN1A-AS1,SCN9A | c.2804G>A (p.Cys935Tyr) c.2771G>A (p.Cys924Tyr) c.461G>A (p.Cys154Tyr) c.1806G>A n.870-35C>T c.2417G>A (p.Cys806Tyr) c.2060G>A (p.Cys687Tyr) n.3118G>A | dbSNP gnomAD v4 |
2 | g.166277054A>C | CA349077318 | SCN1A-AS1,SCN9A | c.2803T>G (p.Cys935Gly) c.2770T>G (p.Cys924Gly) c.460T>G (p.Cys154Gly) c.1805T>G n.870-34A>C c.2416T>G (p.Cys806Gly) c.2059T>G (p.Cys687Gly) n.3117T>G | |
2 | g.166277054A>G | CA349077325 | SCN1A-AS1,SCN9A | c.2803T>C (p.Cys935Arg) c.2770T>C (p.Cys924Arg) c.460T>C (p.Cys154Arg) c.1805T>C n.870-34A>G c.2416T>C (p.Cys806Arg) c.2059T>C (p.Cys687Arg) n.3117T>C | |
2 | g.166277054A>T | CA349077322 | SCN1A-AS1,SCN9A | c.2803T>A (p.Cys935Ser) c.2770T>A (p.Cys924Ser) c.460T>A (p.Cys154Ser) c.1805T>A n.870-34A>T c.2416T>A (p.Cys806Ser) c.2059T>A (p.Cys687Ser) n.3117T>A | gnomAD v4 |
2 | g.166277055G>A | CA429978041 | SCN1A-AS1,SCN9A | c.2802C>T (p.Asp934=) c.2769C>T (p.Asp923=) c.459C>T (p.Asp153=) c.1804C>T n.870-33G>A c.2415C>T (p.Asp805=) c.2058C>T (p.Asp686=) n.3116C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277055G>C | CA349077328 | SCN1A-AS1,SCN9A | c.2802C>G (p.Asp934Glu) c.2769C>G (p.Asp923Glu) c.459C>G (p.Asp153Glu) c.1804C>G n.870-33G>C c.2415C>G (p.Asp805Glu) c.2058C>G (p.Asp686Glu) n.3116C>G | |
2 | g.166277055G= | CA1304964767 | SCN1A-AS1,SCN9A | c.2802C= (p.Asp934=) c.2769C= (p.Asp923=) c.459C= (p.Asp153=) c.1804C= n.870-33G= c.2415C= (p.Asp805=) c.2058C= (p.Asp686=) n.3116C= | |
2 | g.166277055G>T | CA349077331 | SCN1A-AS1,SCN9A | c.2802C>A (p.Asp934Glu) c.2769C>A (p.Asp923Glu) c.459C>A (p.Asp153Glu) c.1804C>A n.870-33G>T c.2415C>A (p.Asp805Glu) c.2058C>A (p.Asp686Glu) n.3116C>A | |
2 | g.166277056T>A | CA349077335 | SCN1A-AS1,SCN9A | c.2801A>T (p.Asp934Val) c.2768A>T (p.Asp923Val) c.458A>T (p.Asp153Val) c.1803A>T n.870-32T>A c.2414A>T (p.Asp805Val) c.2057A>T (p.Asp686Val) n.3115A>T | |
2 | g.166277056T>C | CA349077342 | SCN1A-AS1,SCN9A | c.2801A>G (p.Asp934Gly) c.2768A>G (p.Asp923Gly) c.458A>G (p.Asp153Gly) c.1803A>G n.870-32T>C c.2414A>G (p.Asp805Gly) c.2057A>G (p.Asp686Gly) n.3115A>G | |
2 | g.166277056T>G | CA349077338 | SCN1A-AS1,SCN9A | c.2801A>C (p.Asp934Ala) c.2768A>C (p.Asp923Ala) c.458A>C (p.Asp153Ala) c.1803A>C n.870-32T>G c.2414A>C (p.Asp805Ala) c.2057A>C (p.Asp686Ala) n.3115A>C | ClinVar dbSNP |
2 | g.166277056T= | CA1304964771 | SCN1A-AS1,SCN9A | c.2801A= (p.Asp934=) c.2768A= (p.Asp923=) c.458A= (p.Asp153=) c.1803A= n.870-32T= c.2414A= (p.Asp805=) c.2057A= (p.Asp686=) n.3115A= | |
2 | g.166277057C>A | CA349077346 | SCN1A-AS1,SCN9A | c.2800G>T (p.Asp934Tyr) c.2767G>T (p.Asp923Tyr) c.457G>T (p.Asp153Tyr) c.1802G>T n.870-31C>A c.2413G>T (p.Asp805Tyr) c.2056G>T (p.Asp686Tyr) n.3114G>T | ClinVar dbSNP |
2 | g.166277057C= | CA1304964777 | SCN1A-AS1,SCN9A | c.2800G= (p.Asp934=) c.2767G= (p.Asp923=) c.457G= (p.Asp153=) c.1802G= n.870-31C= c.2413G= (p.Asp805=) c.2056G= (p.Asp686=) n.3114G= | |
2 | g.166277057C>G | CA349077349 | SCN1A-AS1,SCN9A | c.2800G>C (p.Asp934His) c.2767G>C (p.Asp923His) c.457G>C (p.Asp153His) c.1802G>C n.870-31C>G c.2413G>C (p.Asp805His) c.2056G>C (p.Asp686His) n.3114G>C | |
2 | g.166277057C>T | CA1944201 | SCN1A-AS1,SCN9A | c.2800G>A (p.Asp934Asn) c.2767G>A (p.Asp923Asn) c.457G>A (p.Asp153Asn) c.1802G>A n.870-31C>T c.2413G>A (p.Asp805Asn) c.2056G>A (p.Asp686Asn) n.3114G>A | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.166277058C>A | CA349077352 | SCN1A-AS1,SCN9A | c.2799G>T (p.Trp933Cys) c.2766G>T (p.Trp922Cys) c.456G>T (p.Trp152Cys) c.1801G>T n.870-30C>A c.2412G>T (p.Trp804Cys) c.2055G>T (p.Trp685Cys) n.3113G>T | |
2 | g.166277058C= | CA1304964780 | SCN1A-AS1,SCN9A | c.2799G= (p.Trp933=) c.2766G= (p.Trp922=) c.456G= (p.Trp152=) c.1801G= n.870-30C= c.2412G= (p.Trp804=) c.2055G= (p.Trp685=) n.3113G= | |
2 | g.166277058C>G | CA349077356 | SCN1A-AS1,SCN9A | c.2799G>C (p.Trp933Cys) c.2766G>C (p.Trp922Cys) c.456G>C (p.Trp152Cys) c.1801G>C n.870-30C>G c.2412G>C (p.Trp804Cys) c.2055G>C (p.Trp685Cys) n.3113G>C | |
2 | g.166277058C>T | CA349077354 | SCN1A-AS1,SCN9A | c.2799G>A (p.Trp933Ter) c.2766G>A (p.Trp922Ter) c.456G>A (p.Trp152Ter) c.1801G>A n.870-30C>T c.2412G>A (p.Trp804Ter) c.2055G>A (p.Trp685Ter) n.3113G>A | dbSNP |
2 | g.166277059C>A | CA349077358 | SCN1A-AS1,SCN9A | c.2798G>T (p.Trp933Leu) c.2765G>T (p.Trp922Leu) c.455G>T (p.Trp152Leu) c.1800G>T n.870-29C>A c.2411G>T (p.Trp804Leu) c.2054G>T (p.Trp685Leu) n.3112G>T | |
2 | g.166277059C>G | CA349077360 | SCN1A-AS1,SCN9A | c.2798G>C (p.Trp933Ser) c.2765G>C (p.Trp922Ser) c.455G>C (p.Trp152Ser) c.1800G>C n.870-29C>G c.2411G>C (p.Trp804Ser) c.2054G>C (p.Trp685Ser) n.3112G>C | |
2 | g.166277059C>T | CA349077361 | SCN1A-AS1,SCN9A | c.2798G>A (p.Trp933Ter) c.2765G>A (p.Trp922Ter) c.455G>A (p.Trp152Ter) c.1800G>A n.870-29C>T c.2411G>A (p.Trp804Ter) c.2054G>A (p.Trp685Ter) n.3112G>A | |
2 | g.166277060A>C | CA349077363 | SCN1A-AS1,SCN9A | c.2797T>G (p.Trp933Gly) c.2764T>G (p.Trp922Gly) c.454T>G (p.Trp152Gly) c.1799T>G n.870-28A>C c.2410T>G (p.Trp804Gly) c.2053T>G (p.Trp685Gly) n.3111T>G | |
2 | g.166277060A>G | CA349077365 | SCN1A-AS1,SCN9A | c.2797T>C (p.Trp933Arg) c.2764T>C (p.Trp922Arg) c.454T>C (p.Trp152Arg) c.1799T>C n.870-28A>G c.2410T>C (p.Trp804Arg) c.2053T>C (p.Trp685Arg) n.3111T>C | |
2 | g.166277060A>T | CA349077366 | SCN1A-AS1,SCN9A | c.2797T>A (p.Trp933Arg) c.2764T>A (p.Trp922Arg) c.454T>A (p.Trp152Arg) c.1799T>A n.870-28A>T c.2410T>A (p.Trp804Arg) c.2053T>A (p.Trp685Arg) n.3111T>A | |
2 | g.166277061C>A | CA349077368 | SCN1A-AS1,SCN9A | c.2796G>T (p.Met932Ile) c.2763G>T (p.Met921Ile) c.453G>T (p.Met151Ile) c.1798G>T n.870-27C>A c.2409G>T (p.Met803Ile) c.2052G>T (p.Met684Ile) n.3110G>T | |
2 | g.166277061C>G | CA349077369 | SCN1A-AS1,SCN9A | c.2796G>C (p.Met932Ile) c.2763G>C (p.Met921Ile) c.453G>C (p.Met151Ile) c.1798G>C n.870-27C>G c.2409G>C (p.Met803Ile) c.2052G>C (p.Met684Ile) n.3110G>C | ClinVar dbSNP gnomAD v4 |
2 | g.166277061C>T | CA349077371 | SCN1A-AS1,SCN9A | c.2796G>A (p.Met932Ile) c.2763G>A (p.Met921Ile) c.453G>A (p.Met151Ile) c.1798G>A n.870-27C>T c.2409G>A (p.Met803Ile) c.2052G>A (p.Met684Ile) n.3110G>A | |
2 | g.166277062A= | CA1304964784 | SCN1A-AS1,SCN9A | c.2795T= (p.Met932=) c.2762T= (p.Met921=) c.452T= (p.Met151=) c.1797T= n.870-26A= c.2408T= (p.Met803=) c.2051T= (p.Met684=) n.3109T= | |
2 | g.166277062A>C | CA349077377 | SCN1A-AS1,SCN9A | c.2795T>G (p.Met932Arg) c.2762T>G (p.Met921Arg) c.452T>G (p.Met151Arg) c.1797T>G n.870-26A>C c.2408T>G (p.Met803Arg) c.2051T>G (p.Met684Arg) n.3109T>G | |
2 | g.166277062A>G | CA1944202 | SCN1A-AS1,SCN9A | c.2795T>C (p.Met932Thr) c.2762T>C (p.Met921Thr) c.452T>C (p.Met151Thr) c.1797T>C n.870-26A>G c.2408T>C (p.Met803Thr) c.2051T>C (p.Met684Thr) n.3109T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277062A>T | CA349077374 | SCN1A-AS1,SCN9A | c.2795T>A (p.Met932Lys) c.2762T>A (p.Met921Lys) c.452T>A (p.Met151Lys) c.1797T>A n.870-26A>T c.2408T>A (p.Met803Lys) c.2051T>A (p.Met684Lys) n.3109T>A | |
2 | g.166277063T>A | CA349077380 | SCN1A-AS1,SCN9A | c.2794A>T (p.Met932Leu) c.2761A>T (p.Met921Leu) c.451A>T (p.Met151Leu) c.1796A>T n.870-25T>A c.2407A>T (p.Met803Leu) c.2050A>T (p.Met684Leu) n.3108A>T | |
2 | g.166277063T>C | CA349077382 | SCN1A-AS1,SCN9A | c.2794A>G (p.Met932Val) c.2761A>G (p.Met921Val) c.451A>G (p.Met151Val) c.1796A>G n.870-25T>C c.2407A>G (p.Met803Val) c.2050A>G (p.Met684Val) n.3108A>G | |
2 | g.166277063T>G | CA349077384 | SCN1A-AS1,SCN9A | c.2794A>C (p.Met932Leu) c.2761A>C (p.Met921Leu) c.451A>C (p.Met151Leu) c.1796A>C n.870-25T>G c.2407A>C (p.Met803Leu) c.2050A>C (p.Met684Leu) n.3108A>C | |
2 | g.166277064G>A | CA429978057 | SCN1A-AS1,SCN9A | c.2793C>T (p.Thr931=) c.2760C>T (p.Thr920=) c.450C>T (p.Thr150=) c.1795C>T n.870-24G>A c.2406C>T (p.Thr802=) c.2049C>T (p.Thr683=) n.3107C>T | |
2 | g.166277064G>C | CA429978059 | SCN1A-AS1,SCN9A | c.2793C>G (p.Thr931=) c.2760C>G (p.Thr920=) c.450C>G (p.Thr150=) c.1795C>G n.870-24G>C c.2406C>G (p.Thr802=) c.2049C>G (p.Thr683=) n.3107C>G | |
2 | g.166277064G= | CA1304964789 | SCN1A-AS1,SCN9A | c.2793C= (p.Thr931=) c.2760C= (p.Thr920=) c.450C= (p.Thr150=) c.1795C= n.870-24G= c.2406C= (p.Thr802=) c.2049C= (p.Thr683=) n.3107C= | |
2 | g.166277064G>T | CA429978063 | SCN1A-AS1,SCN9A | c.2793C>A (p.Thr931=) c.2760C>A (p.Thr920=) c.450C>A (p.Thr150=) c.1795C>A n.870-24G>T c.2406C>A (p.Thr802=) c.2049C>A (p.Thr683=) n.3107C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277065G>A | CA349077387 | SCN1A-AS1,SCN9A | c.2792C>T (p.Thr931Ile) c.2759C>T (p.Thr920Ile) c.449C>T (p.Thr150Ile) c.1794C>T n.870-23G>A c.2405C>T (p.Thr802Ile) c.2048C>T (p.Thr683Ile) n.3106C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277065G>C | CA349077389 | SCN1A-AS1,SCN9A | c.2792C>G (p.Thr931Ser) c.2759C>G (p.Thr920Ser) c.449C>G (p.Thr150Ser) c.1794C>G n.870-23G>C c.2405C>G (p.Thr802Ser) c.2048C>G (p.Thr683Ser) n.3106C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277065G= | CA1304964797 | SCN1A-AS1,SCN9A | c.2792C= (p.Thr931=) c.2759C= (p.Thr920=) c.449C= (p.Thr150=) c.1794C= n.870-23G= c.2405C= (p.Thr802=) c.2048C= (p.Thr683=) n.3106C= | |
2 | g.166277065G>T | CA349077391 | SCN1A-AS1,SCN9A | c.2792C>A (p.Thr931Asn) c.2759C>A (p.Thr920Asn) c.449C>A (p.Thr150Asn) c.1794C>A n.870-23G>T c.2405C>A (p.Thr802Asn) c.2048C>A (p.Thr683Asn) n.3106C>A | |
2 | g.166277066T>A | CA349077393 | SCN1A-AS1,SCN9A | c.2791A>T (p.Thr931Ser) c.2758A>T (p.Thr920Ser) c.448A>T (p.Thr150Ser) c.1793A>T n.870-22T>A c.2404A>T (p.Thr802Ser) c.2047A>T (p.Thr683Ser) n.3105A>T | |
2 | g.166277066T>C | CA349077395 | SCN1A-AS1,SCN9A | c.2791A>G (p.Thr931Ala) c.2758A>G (p.Thr920Ala) c.448A>G (p.Thr150Ala) c.1793A>G n.870-22T>C c.2404A>G (p.Thr802Ala) c.2047A>G (p.Thr683Ala) n.3105A>G | |
2 | g.166277066T>G | CA349077398 | SCN1A-AS1,SCN9A | c.2791A>C (p.Thr931Pro) c.2758A>C (p.Thr920Pro) c.448A>C (p.Thr150Pro) c.1793A>C n.870-22T>G c.2404A>C (p.Thr802Pro) c.2047A>C (p.Thr683Pro) n.3105A>C | |
2 | g.166277067C>A | CA349077400 | SCN1A-AS1,SCN9A | c.2790G>T (p.Glu930Asp) c.2757G>T (p.Glu919Asp) c.447G>T (p.Glu149Asp) c.1792G>T n.870-21C>A c.2403G>T (p.Glu801Asp) c.2046G>T (p.Glu682Asp) n.3104G>T | |
2 | g.166277067C>G | CA349077402 | SCN1A-AS1,SCN9A | c.2790G>C (p.Glu930Asp) c.2757G>C (p.Glu919Asp) c.447G>C (p.Glu149Asp) c.1792G>C n.870-21C>G c.2403G>C (p.Glu801Asp) c.2046G>C (p.Glu682Asp) n.3104G>C | |
2 | g.166277067C>T | CA429978073 | SCN1A-AS1,SCN9A | c.2790G>A (p.Glu930=) c.2757G>A (p.Glu919=) c.447G>A (p.Glu149=) c.1792G>A n.870-21C>T c.2403G>A (p.Glu801=) c.2046G>A (p.Glu682=) n.3104G>A | |
2 | g.166277068T>A | CA349077405 | SCN1A-AS1,SCN9A | c.2789A>T (p.Glu930Val) c.2756A>T (p.Glu919Val) c.446A>T (p.Glu149Val) c.1791A>T n.870-20T>A c.2402A>T (p.Glu801Val) c.2045A>T (p.Glu682Val) n.3103A>T | |
2 | g.166277068T>C | CA349077407 | SCN1A-AS1,SCN9A | c.2789A>G (p.Glu930Gly) c.2756A>G (p.Glu919Gly) c.446A>G (p.Glu149Gly) c.1791A>G n.870-20T>C c.2402A>G (p.Glu801Gly) c.2045A>G (p.Glu682Gly) n.3103A>G | |
2 | g.166277068T>G | CA349077404 | SCN1A-AS1,SCN9A | c.2789A>C (p.Glu930Ala) c.2756A>C (p.Glu919Ala) c.446A>C (p.Glu149Ala) c.1791A>C n.870-20T>G c.2402A>C (p.Glu801Ala) c.2045A>C (p.Glu682Ala) n.3103A>C | |
2 | g.166277069C>A | CA349077410 | SCN1A-AS1,SCN9A | c.2788G>T (p.Glu930Ter) c.2755G>T (p.Glu919Ter) c.445G>T (p.Glu149Ter) c.1790G>T n.870-19C>A c.2401G>T (p.Glu801Ter) c.2044G>T (p.Glu682Ter) n.3102G>T | dbSNP gnomAD v4 |
2 | g.166277069C= | CA1304964806 | SCN1A-AS1,SCN9A | c.2788G= (p.Glu930=) c.2755G= (p.Glu919=) c.445G= (p.Glu149=) c.1790G= n.870-19C= c.2401G= (p.Glu801=) c.2044G= (p.Glu682=) n.3102G= | |
2 | g.166277069C>G | CA349077412 | SCN1A-AS1,SCN9A | c.2788G>C (p.Glu930Gln) c.2755G>C (p.Glu919Gln) c.445G>C (p.Glu149Gln) c.1790G>C n.870-19C>G c.2401G>C (p.Glu801Gln) c.2044G>C (p.Glu682Gln) n.3102G>C | |
2 | g.166277069C>T | CA1944203 | SCN1A-AS1,SCN9A | c.2788G>A (p.Glu930Lys) c.2755G>A (p.Glu919Lys) c.445G>A (p.Glu149Lys) c.1790G>A n.870-19C>T c.2401G>A (p.Glu801Lys) c.2044G>A (p.Glu682Lys) n.3102G>A | dbSNP ExAC gnomAD v2 |
2 | g.166277070T>A | CA429978078 | SCN1A-AS1,SCN9A | c.2787A>T (p.Ile929=) c.2754A>T (p.Ile918=) c.444A>T (p.Ile148=) c.1789A>T n.870-18T>A c.2400A>T (p.Ile800=) c.2043A>T (p.Ile681=) n.3101A>T | |
2 | g.166277070T>C | CA349077417 | SCN1A-AS1,SCN9A | c.2787A>G (p.Ile929Met) c.2754A>G (p.Ile918Met) c.444A>G (p.Ile148Met) c.1789A>G n.870-18T>C c.2400A>G (p.Ile800Met) c.2043A>G (p.Ile681Met) n.3101A>G | gnomAD v4 |
2 | g.166277070T>G | CA429978080 | SCN1A-AS1,SCN9A | c.2787A>C (p.Ile929=) c.2754A>C (p.Ile918=) c.444A>C (p.Ile148=) c.1789A>C n.870-18T>G c.2400A>C (p.Ile800=) c.2043A>C (p.Ile681=) n.3101A>C | |
2 | g.166277071_166277072del | CA537657175 | SCN1A-AS1,SCN9A | c.2786_2787del (p.Ile929ArgfsTer?) c.2753_2754del (p.Ile918ArgfsTer?) c.443_444del (p.Ile148ArgfsTer?) c.1788_1789del n.870-17_870-16del c.2399_2400del (p.Ile800ArgfsTer?) c.2042_2043del (p.Ile681ArgfsTer?) n.3100_3101del | gnomAD v2 gnomAD v4 |
2 | g.166277071A= | CA1304964808 | SCN1A-AS1,SCN9A | c.2786T= (p.Ile929=) c.2753T= (p.Ile918=) c.443T= (p.Ile148=) c.1788T= n.870-17A= c.2399T= (p.Ile800=) c.2042T= (p.Ile681=) n.3100T= | |
2 | g.166277071A>C | CA349077427 | SCN1A-AS1,SCN9A | c.2786T>G (p.Ile929Arg) c.2753T>G (p.Ile918Arg) c.443T>G (p.Ile148Arg) c.1788T>G n.870-17A>C c.2399T>G (p.Ile800Arg) c.2042T>G (p.Ile681Arg) n.3100T>G | |
2 | g.166277071A>G | CA1944204 | SCN1A-AS1,SCN9A | c.2786T>C (p.Ile929Thr) c.2753T>C (p.Ile918Thr) c.443T>C (p.Ile148Thr) c.1788T>C n.870-17A>G c.2399T>C (p.Ile800Thr) c.2042T>C (p.Ile681Thr) n.3100T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277071A>T | CA349077423 | SCN1A-AS1,SCN9A | c.2786T>A (p.Ile929Lys) c.2753T>A (p.Ile918Lys) c.443T>A (p.Ile148Lys) c.1788T>A n.870-17A>T c.2399T>A (p.Ile800Lys) c.2042T>A (p.Ile681Lys) n.3100T>A | |
2 | g.166277072T>A | CA349077430 | SCN1A-AS1,SCN9A | c.2785A>T (p.Ile929Leu) c.2752A>T (p.Ile918Leu) c.442A>T (p.Ile148Leu) c.1787A>T n.870-16T>A c.2398A>T (p.Ile800Leu) c.2041A>T (p.Ile681Leu) n.3099A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277072T>C | CA349077432 | SCN1A-AS1,SCN9A | c.2785A>G (p.Ile929Val) c.2752A>G (p.Ile918Val) c.442A>G (p.Ile148Val) c.1787A>G n.870-16T>C c.2398A>G (p.Ile800Val) c.2041A>G (p.Ile681Val) n.3099A>G | |
2 | g.166277072T>G | CA349077434 | SCN1A-AS1,SCN9A | c.2785A>C (p.Ile929Leu) c.2752A>C (p.Ile918Leu) c.442A>C (p.Ile148Leu) c.1787A>C n.870-16T>G c.2398A>C (p.Ile800Leu) c.2041A>C (p.Ile681Leu) n.3099A>C | |
2 | g.166277072T= | CA1304964812 | SCN1A-AS1,SCN9A | c.2785A= (p.Ile929=) c.2752A= (p.Ile918=) c.442A= (p.Ile148=) c.1787A= n.870-16T= c.2398A= (p.Ile800=) c.2041A= (p.Ile681=) n.3099A= | |
2 | g.166277077_166277083del | CA645519733 | SCN1A-AS1,SCN9A | c.2779_2785del (p.Glu927Ter) c.2746_2752del (p.Glu916Ter) c.436_442del (p.Glu146Ter) c.1781_1787del n.870-11_870-5del c.2392_2398del (p.Glu798Ter) c.2035_2041del (p.Glu679Ter) n.3093_3099del | COSMIC |
2 | g.166277073C>A | CA349077435 | SCN1A-AS1,SCN9A | c.2784G>T (p.Trp928Cys) c.2751G>T (p.Trp917Cys) c.441G>T (p.Trp147Cys) c.1786G>T n.870-15C>A c.2397G>T (p.Trp799Cys) c.2040G>T (p.Trp680Cys) n.3098G>T | |
2 | g.166277073C>G | CA349077436 | SCN1A-AS1,SCN9A | c.2784G>C (p.Trp928Cys) c.2751G>C (p.Trp917Cys) c.441G>C (p.Trp147Cys) c.1786G>C n.870-15C>G c.2397G>C (p.Trp799Cys) c.2040G>C (p.Trp680Cys) n.3098G>C | gnomAD v4 |
2 | g.166277073C>T | CA349077437 | SCN1A-AS1,SCN9A | c.2784G>A (p.Trp928Ter) c.2751G>A (p.Trp917Ter) c.441G>A (p.Trp147Ter) c.1786G>A n.870-15C>T c.2397G>A (p.Trp799Ter) c.2040G>A (p.Trp680Ter) n.3098G>A | |
2 | g.166277074C>A | CA349077438 | SCN1A-AS1,SCN9A | c.2783G>T (p.Trp928Leu) c.2750G>T (p.Trp917Leu) c.440G>T (p.Trp147Leu) c.1785G>T n.870-14C>A c.2396G>T (p.Trp799Leu) c.2039G>T (p.Trp680Leu) n.3097G>T | |
2 | g.166277074C>G | CA349077440 | SCN1A-AS1,SCN9A | c.2783G>C (p.Trp928Ser) c.2750G>C (p.Trp917Ser) c.440G>C (p.Trp147Ser) c.1785G>C n.870-14C>G c.2396G>C (p.Trp799Ser) c.2039G>C (p.Trp680Ser) n.3097G>C | |
2 | g.166277074C>T | CA349077439 | SCN1A-AS1,SCN9A | c.2783G>A (p.Trp928Ter) c.2750G>A (p.Trp917Ter) c.440G>A (p.Trp147Ter) c.1785G>A n.870-14C>T c.2396G>A (p.Trp799Ter) c.2039G>A (p.Trp680Ter) n.3097G>A | |
2 | g.166277075A>C | CA349077441 | SCN1A-AS1,SCN9A | c.2782T>G (p.Trp928Gly) c.2749T>G (p.Trp917Gly) c.439T>G (p.Trp147Gly) c.1784T>G n.870-13A>C c.2395T>G (p.Trp799Gly) c.2038T>G (p.Trp680Gly) n.3096T>G | |
2 | g.166277075A>G | CA349077442 | SCN1A-AS1,SCN9A | c.2782T>C (p.Trp928Arg) c.2749T>C (p.Trp917Arg) c.439T>C (p.Trp147Arg) c.1784T>C n.870-13A>G c.2395T>C (p.Trp799Arg) c.2038T>C (p.Trp680Arg) n.3096T>C | gnomAD v4 |
2 | g.166277075A>T | CA349077443 | SCN1A-AS1,SCN9A | c.2782T>A (p.Trp928Arg) c.2749T>A (p.Trp917Arg) c.439T>A (p.Trp147Arg) c.1784T>A n.870-13A>T c.2395T>A (p.Trp799Arg) c.2038T>A (p.Trp680Arg) n.3096T>A | |
2 | g.166277076C>A | CA349077446 | SCN1A-AS1,SCN9A | c.2781G>T (p.Glu927Asp) c.2748G>T (p.Glu916Asp) c.438G>T (p.Glu146Asp) c.1783G>T n.870-12C>A c.2394G>T (p.Glu798Asp) c.2037G>T (p.Glu679Asp) n.3095G>T | |
2 | g.166277076C>G | CA349077448 | SCN1A-AS1,SCN9A | c.2781G>C (p.Glu927Asp) c.2748G>C (p.Glu916Asp) c.438G>C (p.Glu146Asp) c.1783G>C n.870-12C>G c.2394G>C (p.Glu798Asp) c.2037G>C (p.Glu679Asp) n.3095G>C | |
2 | g.166277076C>T | CA429978087 | SCN1A-AS1,SCN9A | c.2781G>A (p.Glu927=) c.2748G>A (p.Glu916=) c.438G>A (p.Glu146=) c.1783G>A n.870-12C>T c.2394G>A (p.Glu798=) c.2037G>A (p.Glu679=) n.3095G>A | ClinVar dbSNP |
2 | g.166277077T>A | CA349077450 | SCN1A-AS1,SCN9A | c.2780A>T (p.Glu927Val) c.2747A>T (p.Glu916Val) c.437A>T (p.Glu146Val) c.1782A>T n.870-11T>A c.2393A>T (p.Glu798Val) c.2036A>T (p.Glu679Val) n.3094A>T | |
2 | g.166277077T>C | CA349077452 | SCN1A-AS1,SCN9A | c.2780A>G (p.Glu927Gly) c.2747A>G (p.Glu916Gly) c.437A>G (p.Glu146Gly) c.1782A>G n.870-11T>C c.2393A>G (p.Glu798Gly) c.2036A>G (p.Glu679Gly) n.3094A>G | |
2 | g.166277077T>G | CA349077457 | SCN1A-AS1,SCN9A | c.2780A>C (p.Glu927Ala) c.2747A>C (p.Glu916Ala) c.437A>C (p.Glu146Ala) c.1782A>C n.870-11T>G c.2393A>C (p.Glu798Ala) c.2036A>C (p.Glu679Ala) n.3094A>C | |
2 | g.166277078C>A | CA349077458 | SCN1A-AS1,SCN9A | c.2779G>T (p.Glu927Ter) c.2746G>T (p.Glu916Ter) c.436G>T (p.Glu146Ter) c.1781G>T n.870-10C>A c.2392G>T (p.Glu798Ter) c.2035G>T (p.Glu679Ter) n.3093G>T | dbSNP |
2 | g.166277078C= | CA1304964820 | SCN1A-AS1,SCN9A | c.2779G= (p.Glu927=) c.2746G= (p.Glu916=) c.436G= (p.Glu146=) c.1781G= n.870-10C= c.2392G= (p.Glu798=) c.2035G= (p.Glu679=) n.3093G= | |
2 | g.166277078C>G | CA349077459 | SCN1A-AS1,SCN9A | c.2779G>C (p.Glu927Gln) c.2746G>C (p.Glu916Gln) c.436G>C (p.Glu146Gln) c.1781G>C n.870-10C>G c.2392G>C (p.Glu798Gln) c.2035G>C (p.Glu679Gln) n.3093G>C | |
2 | g.166277078C>T | CA1944205 | SCN1A-AS1,SCN9A | c.2779G>A (p.Glu927Lys) c.2746G>A (p.Glu916Lys) c.436G>A (p.Glu146Lys) c.1781G>A n.870-10C>T c.2392G>A (p.Glu798Lys) c.2035G>A (p.Glu679Lys) n.3093G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277079T>A | CA429978096 | SCN1A-AS1,SCN9A | c.2778A>T (p.Gly926=) c.2745A>T (p.Gly915=) c.435A>T (p.Gly145=) c.1780A>T n.870-9T>A c.2391A>T (p.Gly797=) c.2034A>T (p.Gly678=) n.3092A>T | |
2 | g.166277079T>C | CA429978097 | SCN1A-AS1,SCN9A | c.2778A>G (p.Gly926=) c.2745A>G (p.Gly915=) c.435A>G (p.Gly145=) c.1780A>G n.870-9T>C c.2391A>G (p.Gly797=) c.2034A>G (p.Gly678=) n.3092A>G | gnomAD v4 |
2 | g.166277079T>G | CA429978098 | SCN1A-AS1,SCN9A | c.2778A>C (p.Gly926=) c.2745A>C (p.Gly915=) c.435A>C (p.Gly145=) c.1780A>C n.870-9T>G c.2391A>C (p.Gly797=) c.2034A>C (p.Gly678=) n.3092A>C | |
2 | g.166277080C>A | CA349077467 | SCN1A-AS1,SCN9A | c.2777G>T (p.Gly926Val) c.2744G>T (p.Gly915Val) c.434G>T (p.Gly145Val) c.1779G>T n.870-8C>A c.2390G>T (p.Gly797Val) c.2033G>T (p.Gly678Val) n.3091G>T | |
2 | g.166277080C>G | CA349077465 | SCN1A-AS1,SCN9A | c.2777G>C (p.Gly926Ala) c.2744G>C (p.Gly915Ala) c.434G>C (p.Gly145Ala) c.1779G>C n.870-8C>G c.2390G>C (p.Gly797Ala) c.2033G>C (p.Gly678Ala) n.3091G>C | |
2 | g.166277080C>T | CA349077463 | SCN1A-AS1,SCN9A | c.2777G>A (p.Gly926Glu) c.2744G>A (p.Gly915Glu) c.434G>A (p.Gly145Glu) c.1779G>A n.870-8C>T c.2390G>A (p.Gly797Glu) c.2033G>A (p.Gly678Glu) n.3091G>A | |
2 | g.166277081C>A | CA349077470 | SCN1A-AS1,SCN9A | c.2776G>T (p.Gly926Ter) c.2743G>T (p.Gly915Ter) c.433G>T (p.Gly145Ter) c.1778G>T n.870-7C>A c.2389G>T (p.Gly797Ter) c.2032G>T (p.Gly678Ter) n.3090G>T | dbSNP |
2 | g.166277081C= | CA1304964828 | SCN1A-AS1,SCN9A | c.2776G= (p.Gly926=) c.2743G= (p.Gly915=) c.433G= (p.Gly145=) c.1778G= n.870-7C= c.2389G= (p.Gly797=) c.2032G= (p.Gly678=) n.3090G= | |
2 | g.166277081C>G | CA349077474 | SCN1A-AS1,SCN9A | c.2776G>C (p.Gly926Arg) c.2743G>C (p.Gly915Arg) c.433G>C (p.Gly145Arg) c.1778G>C n.870-7C>G c.2389G>C (p.Gly797Arg) c.2032G>C (p.Gly678Arg) n.3090G>C | |
2 | g.166277081C>T | CA349077472 | SCN1A-AS1,SCN9A | c.2776G>A (p.Gly926Arg) c.2743G>A (p.Gly915Arg) c.433G>A (p.Gly145Arg) c.1778G>A n.870-7C>T c.2389G>A (p.Gly797Arg) c.2032G>A (p.Gly678Arg) n.3090G>A | |
2 | g.166277082A>C | CA349077476 | SCN1A-AS1,SCN9A | c.2775T>G (p.Cys925Trp) c.2742T>G (p.Cys914Trp) c.432T>G (p.Cys144Trp) c.1777T>G n.870-6A>C c.2388T>G (p.Cys796Trp) c.2031T>G (p.Cys677Trp) n.3089T>G | |
2 | g.166277082A>G | CA429978100 | SCN1A-AS1,SCN9A | c.2775T>C (p.Cys925=) c.2742T>C (p.Cys914=) c.432T>C (p.Cys144=) c.1777T>C n.870-6A>G c.2388T>C (p.Cys796=) c.2031T>C (p.Cys677=) n.3089T>C | |
2 | g.166277082A>T | CA349077478 | SCN1A-AS1,SCN9A | c.2775T>A (p.Cys925Ter) c.2742T>A (p.Cys914Ter) c.432T>A (p.Cys144Ter) c.1777T>A n.870-6A>T c.2388T>A (p.Cys796Ter) c.2031T>A (p.Cys677Ter) n.3089T>A | |
2 | g.166277083C>A | CA349077479 | SCN1A-AS1,SCN9A | c.2774G>T (p.Cys925Phe) c.2741G>T (p.Cys914Phe) c.431G>T (p.Cys144Phe) c.1776G>T n.870-5C>A c.2387G>T (p.Cys796Phe) c.2030G>T (p.Cys677Phe) n.3088G>T | |
2 | g.166277083C>G | CA349077480 | SCN1A-AS1,SCN9A | c.2774G>C (p.Cys925Ser) c.2741G>C (p.Cys914Ser) c.431G>C (p.Cys144Ser) c.1776G>C n.870-5C>G c.2387G>C (p.Cys796Ser) c.2030G>C (p.Cys677Ser) n.3088G>C | |
2 | g.166277083C>T | CA349077486 | SCN1A-AS1,SCN9A | c.2774G>A (p.Cys925Tyr) c.2741G>A (p.Cys914Tyr) c.431G>A (p.Cys144Tyr) c.1776G>A n.870-5C>T c.2387G>A (p.Cys796Tyr) c.2030G>A (p.Cys677Tyr) n.3088G>A | |
2 | g.166277084A>C | CA349077489 | SCN1A-AS1,SCN9A | c.2773T>G (p.Cys925Gly) c.2740T>G (p.Cys914Gly) c.430T>G (p.Cys144Gly) c.1775T>G n.870-4A>C c.2386T>G (p.Cys796Gly) c.2029T>G (p.Cys677Gly) n.3087T>G | gnomAD v4 |
2 | g.166277084A>G | CA349077490 | SCN1A-AS1,SCN9A | c.2773T>C (p.Cys925Arg) c.2740T>C (p.Cys914Arg) c.430T>C (p.Cys144Arg) c.1775T>C n.870-4A>G c.2386T>C (p.Cys796Arg) c.2029T>C (p.Cys677Arg) n.3087T>C | gnomAD v4 |
2 | g.166277084A>T | CA349077494 | SCN1A-AS1,SCN9A | c.2773T>A (p.Cys925Ser) c.2740T>A (p.Cys914Ser) c.430T>A (p.Cys144Ser) c.1775T>A n.870-4A>T c.2386T>A (p.Cys796Ser) c.2029T>A (p.Cys677Ser) n.3087T>A | |
2 | g.166277085C>A | CA429978102 | SCN1A-AS1,SCN9A | c.2772G>T (p.Leu924=) c.2739G>T (p.Leu913=) c.429G>T (p.Leu143=) c.1774G>T n.870-3C>A c.2385G>T (p.Leu795=) c.2028G>T (p.Leu676=) n.3086G>T | |
2 | g.166277085C>G | CA429978103 | SCN1A-AS1,SCN9A | c.2772G>C (p.Leu924=) c.2739G>C (p.Leu913=) c.429G>C (p.Leu143=) c.1774G>C n.870-3C>G c.2385G>C (p.Leu795=) c.2028G>C (p.Leu676=) n.3086G>C | |
2 | g.166277085C>T | CA429978104 | SCN1A-AS1,SCN9A | c.2772G>A (p.Leu924=) c.2739G>A (p.Leu913=) c.429G>A (p.Leu143=) c.1774G>A n.870-3C>T c.2385G>A (p.Leu795=) c.2028G>A (p.Leu676=) n.3086G>A | |
2 | g.166277086del | CA2661767149 | SCN1A-AS1,SCN9A | c.2771del (p.Leu924ArgfsTer6) c.2738del (p.Leu913ArgfsTer6) c.428del (p.Leu143ArgfsTer6) c.1773del n.870-2del c.2384del (p.Leu795ArgfsTer6) c.2027del (p.Leu676ArgfsTer6) n.3085del | gnomAD v4 |
2 | g.166277086A>C | CA349077495 | SCN1A-AS1,SCN9A | c.2771T>G (p.Leu924Arg) c.2738T>G (p.Leu913Arg) c.428T>G (p.Leu143Arg) c.1773T>G n.870-2A>C c.2384T>G (p.Leu795Arg) c.2027T>G (p.Leu676Arg) n.3085T>G | |
2 | g.166277086A>G | CA349077496 | SCN1A-AS1,SCN9A | c.2771T>C (p.Leu924Pro) c.2738T>C (p.Leu913Pro) c.428T>C (p.Leu143Pro) c.1773T>C n.870-2A>G c.2384T>C (p.Leu795Pro) c.2027T>C (p.Leu676Pro) n.3085T>C | |
2 | g.166277086A>T | CA349077498 | SCN1A-AS1,SCN9A | c.2771T>A (p.Leu924Gln) c.2738T>A (p.Leu913Gln) c.428T>A (p.Leu143Gln) c.1773T>A n.870-2A>T c.2384T>A (p.Leu795Gln) c.2027T>A (p.Leu676Gln) n.3085T>A | |
2 | g.166277087G>A | CA429978108 | SCN1A-AS1,SCN9A | c.2770C>T (p.Leu924=) c.2737C>T (p.Leu913=) c.427C>T (p.Leu143=) c.1772C>T n.870-1G>A c.2383C>T (p.Leu795=) c.2026C>T (p.Leu676=) n.3084C>T | COSMIC COSMIC |
2 | g.166277087G>C | CA349077500 | SCN1A-AS1,SCN9A | c.2770C>G (p.Leu924Val) c.2737C>G (p.Leu913Val) c.427C>G (p.Leu143Val) c.1772C>G n.870-1G>C c.2383C>G (p.Leu795Val) c.2026C>G (p.Leu676Val) n.3084C>G | |
2 | g.166277087G>T | CA349077501 | SCN1A-AS1,SCN9A | c.2770C>A (p.Leu924Met) c.2737C>A (p.Leu913Met) c.427C>A (p.Leu143Met) c.1772C>A n.870-1G>T c.2383C>A (p.Leu795Met) c.2026C>A (p.Leu676Met) n.3084C>A | |
2 | g.166277088C>A | CA429978109 | SCN1A-AS1,SCN9A | c.2769G>T (p.Val923=) c.2736G>T (p.Val912=) c.426G>T (p.Val142=) c.1771G>T n.870C>A c.2382G>T (p.Val794=) c.2025G>T (p.Val675=) n.3083G>T | |
2 | g.166277088C>G | CA429978112 | SCN1A-AS1,SCN9A | c.2769G>C (p.Val923=) c.2736G>C (p.Val912=) c.426G>C (p.Val142=) c.1771G>C n.870C>G c.2382G>C (p.Val794=) c.2025G>C (p.Val675=) n.3083G>C | |
2 | g.166277088C>T | CA429978111 | SCN1A-AS1,SCN9A | c.2769G>A (p.Val923=) c.2736G>A (p.Val912=) c.426G>A (p.Val142=) c.1771G>A n.870C>T c.2382G>A (p.Val794=) c.2025G>A (p.Val675=) n.3083G>A | |
2 | g.166277089A>C | CA349077502 | SCN1A-AS1,SCN9A | c.2768T>G (p.Val923Gly) c.2735T>G (p.Val912Gly) c.425T>G (p.Val142Gly) c.1770T>G n.871A>C c.2381T>G (p.Val794Gly) c.2024T>G (p.Val675Gly) n.3082T>G | |
2 | g.166277089A>G | CA349077506 | SCN1A-AS1,SCN9A | c.2768T>C (p.Val923Ala) c.2735T>C (p.Val912Ala) c.425T>C (p.Val142Ala) c.1770T>C n.871A>G c.2381T>C (p.Val794Ala) c.2024T>C (p.Val675Ala) n.3082T>C | |
2 | g.166277089A>T | CA349077504 | SCN1A-AS1,SCN9A | c.2768T>A (p.Val923Glu) c.2735T>A (p.Val912Glu) c.425T>A (p.Val142Glu) c.1770T>A n.871A>T c.2381T>A (p.Val794Glu) c.2024T>A (p.Val675Glu) n.3082T>A | |
2 | g.166277090C>A | CA349077508 | SCN1A-AS1,SCN9A | c.2767G>T (p.Val923Leu) c.2734G>T (p.Val912Leu) c.424G>T (p.Val142Leu) c.1769G>T n.872C>A c.2380G>T (p.Val794Leu) c.2023G>T (p.Val675Leu) n.3081G>T | |
2 | g.166277090C= | CA1304964833 | SCN1A-AS1,SCN9A | c.2767G= (p.Val923=) c.2734G= (p.Val912=) c.424G= (p.Val142=) c.1769G= n.872C= c.2380G= (p.Val794=) c.2023G= (p.Val675=) n.3081G= | |
2 | g.166277090C>G | CA349077509 | SCN1A-AS1,SCN9A | c.2767G>C (p.Val923Leu) c.2734G>C (p.Val912Leu) c.424G>C (p.Val142Leu) c.1769G>C n.872C>G c.2380G>C (p.Val794Leu) c.2023G>C (p.Val675Leu) n.3081G>C | gnomAD v4 |
2 | g.166277090C>T | CA1944206 | SCN1A-AS1,SCN9A | c.2767G>A (p.Val923Met) c.2734G>A (p.Val912Met) c.424G>A (p.Val142Met) c.1769G>A n.872C>T c.2380G>A (p.Val794Met) c.2023G>A (p.Val675Met) n.3081G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277091G>A | CA1944207 | SCN1A-AS1,SCN9A | c.2766C>T (p.Arg922=) c.2733C>T (p.Arg911=) c.423C>T (p.Arg141=) c.1768C>T n.873G>A c.2379C>T (p.Arg793=) c.2022C>T (p.Arg674=) n.3080C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277091G>C | CA429978116 | SCN1A-AS1,SCN9A | c.2766C>G (p.Arg922=) c.2733C>G (p.Arg911=) c.423C>G (p.Arg141=) c.1768C>G n.873G>C c.2379C>G (p.Arg793=) c.2022C>G (p.Arg674=) n.3080C>G | |
2 | g.166277091G= | CA1304964839 | SCN1A-AS1,SCN9A | c.2766C= (p.Arg922=) c.2733C= (p.Arg911=) c.423C= (p.Arg141=) c.1768C= n.873G= c.2379C= (p.Arg793=) c.2022C= (p.Arg674=) n.3080C= | |
2 | g.166277091G>T | CA429978117 | SCN1A-AS1,SCN9A | c.2766C>A (p.Arg922=) c.2733C>A (p.Arg911=) c.423C>A (p.Arg141=) c.1768C>A n.873G>T c.2379C>A (p.Arg793=) c.2022C>A (p.Arg674=) n.3080C>A | |
2 | g.166277092C>A | CA349077514 | SCN1A-AS1,SCN9A | c.2765G>T (p.Arg922Leu) c.2732G>T (p.Arg911Leu) c.422G>T (p.Arg141Leu) c.1767G>T n.874C>A c.2378G>T (p.Arg793Leu) c.2021G>T (p.Arg674Leu) n.3079G>T | |
2 | g.166277092C= | CA1304964848 | SCN1A-AS1,SCN9A | c.2765G= (p.Arg922=) c.2732G= (p.Arg911=) c.422G= (p.Arg141=) c.1767G= n.874C= c.2378G= (p.Arg793=) c.2021G= (p.Arg674=) n.3079G= | |
2 | g.166277092C>G | CA349077516 | SCN1A-AS1,SCN9A | c.2765G>C (p.Arg922Pro) c.2732G>C (p.Arg911Pro) c.422G>C (p.Arg141Pro) c.1767G>C n.874C>G c.2378G>C (p.Arg793Pro) c.2021G>C (p.Arg674Pro) n.3079G>C | |
2 | g.166277092C>T | CA349077518 | SCN1A-AS1,SCN9A | c.2765G>A (p.Arg922His) c.2732G>A (p.Arg911His) c.422G>A (p.Arg141His) c.1767G>A n.874C>T c.2378G>A (p.Arg793His) c.2021G>A (p.Arg674His) n.3079G>A | ClinVar dbSNP gnomAD v4 |
2 | g.166277093G>A | CA1944208 | SCN1A-AS1,SCN9A | c.2764C>T (p.Arg922Cys) c.2731C>T (p.Arg911Cys) c.421C>T (p.Arg141Cys) c.1766C>T n.875G>A c.2377C>T (p.Arg793Cys) c.2020C>T (p.Arg674Cys) n.3078C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277093G>C | CA349077519 | SCN1A-AS1,SCN9A | c.2764C>G (p.Arg922Gly) c.2731C>G (p.Arg911Gly) c.421C>G (p.Arg141Gly) c.1766C>G n.875G>C c.2377C>G (p.Arg793Gly) c.2020C>G (p.Arg674Gly) n.3078C>G | |
2 | g.166277093G= | CA1304964860 | SCN1A-AS1,SCN9A | c.2764C= (p.Arg922=) c.2731C= (p.Arg911=) c.421C= (p.Arg141=) c.1766C= n.875G= c.2377C= (p.Arg793=) c.2020C= (p.Arg674=) n.3078C= | |
2 | g.166277093G>T | CA349077521 | SCN1A-AS1,SCN9A | c.2764C>A (p.Arg922Ser) c.2731C>A (p.Arg911Ser) c.421C>A (p.Arg141Ser) c.1766C>A n.875G>T c.2377C>A (p.Arg793Ser) c.2020C>A (p.Arg674Ser) n.3078C>A | |
2 | g.166277094G>A | CA429978122 | SCN1A-AS1,SCN9A | c.2763C>T (p.Phe921=) c.2730C>T (p.Phe910=) c.420C>T (p.Phe140=) c.1765C>T n.876G>A c.2376C>T (p.Phe792=) c.2019C>T (p.Phe673=) n.3077C>T | |
2 | g.166277094G>C | CA349077524 | SCN1A-AS1,SCN9A | c.2763C>G (p.Phe921Leu) c.2730C>G (p.Phe910Leu) c.420C>G (p.Phe140Leu) c.1765C>G n.876G>C c.2376C>G (p.Phe792Leu) c.2019C>G (p.Phe673Leu) n.3077C>G | |
2 | g.166277094G>T | CA349077525 | SCN1A-AS1,SCN9A | c.2763C>A (p.Phe921Leu) c.2730C>A (p.Phe910Leu) c.420C>A (p.Phe140Leu) c.1765C>A n.876G>T c.2376C>A (p.Phe792Leu) c.2019C>A (p.Phe673Leu) n.3077C>A | |
2 | g.166277095A>C | CA349077528 | SCN1A-AS1,SCN9A | c.2762T>G (p.Phe921Cys) c.2729T>G (p.Phe910Cys) c.419T>G (p.Phe140Cys) c.1764T>G n.877A>C c.2375T>G (p.Phe792Cys) c.2018T>G (p.Phe673Cys) n.3076T>G | |
2 | g.166277095A>G | CA349077530 | SCN1A-AS1,SCN9A | c.2762T>C (p.Phe921Ser) c.2729T>C (p.Phe910Ser) c.419T>C (p.Phe140Ser) c.1764T>C n.877A>G c.2375T>C (p.Phe792Ser) c.2018T>C (p.Phe673Ser) n.3076T>C | |
2 | g.166277095A>T | CA349077531 | SCN1A-AS1,SCN9A | c.2762T>A (p.Phe921Tyr) c.2729T>A (p.Phe910Tyr) c.419T>A (p.Phe140Tyr) c.1764T>A n.877A>T c.2375T>A (p.Phe792Tyr) c.2018T>A (p.Phe673Tyr) n.3076T>A | COSMIC COSMIC |
2 | g.166277096A>C | CA349077532 | SCN1A-AS1,SCN9A | c.2761T>G (p.Phe921Val) c.2728T>G (p.Phe910Val) c.418T>G (p.Phe140Val) c.1763T>G n.878A>C c.2374T>G (p.Phe792Val) c.2017T>G (p.Phe673Val) n.3075T>G | |
2 | g.166277096A>G | CA349077534 | SCN1A-AS1,SCN9A | c.2761T>C (p.Phe921Leu) c.2728T>C (p.Phe910Leu) c.418T>C (p.Phe140Leu) c.1763T>C n.878A>G c.2374T>C (p.Phe792Leu) c.2017T>C (p.Phe673Leu) n.3075T>C | gnomAD v4 |
2 | g.166277096A>T | CA349077536 | SCN1A-AS1,SCN9A | c.2761T>A (p.Phe921Ile) c.2728T>A (p.Phe910Ile) c.418T>A (p.Phe140Ile) c.1763T>A n.878A>T c.2374T>A (p.Phe792Ile) c.2017T>A (p.Phe673Ile) n.3075T>A | |
2 | g.166277097C>A | CA429978128 | SCN1A-AS1,SCN9A | c.2760G>T (p.Val920=) c.2727G>T (p.Val909=) c.417G>T (p.Val139=) c.1762G>T n.879C>A c.2373G>T (p.Val791=) c.2016G>T (p.Val672=) n.3074G>T | gnomAD v4 |
2 | g.166277097C= | CA1304964869 | SCN1A-AS1,SCN9A | c.2760G= (p.Val920=) c.2727G= (p.Val909=) c.417G= (p.Val139=) c.1762G= n.879C= c.2373G= (p.Val791=) c.2016G= (p.Val672=) n.3074G= | |
2 | g.166277097C>G | CA429978130 | SCN1A-AS1,SCN9A | c.2760G>C (p.Val920=) c.2727G>C (p.Val909=) c.417G>C (p.Val139=) c.1762G>C n.879C>G c.2373G>C (p.Val791=) c.2016G>C (p.Val672=) n.3074G>C | |
2 | g.166277097C>T | CA1944209 | SCN1A-AS1,SCN9A | c.2760G>A (p.Val920=) c.2727G>A (p.Val909=) c.417G>A (p.Val139=) c.1762G>A n.879C>T c.2373G>A (p.Val791=) c.2016G>A (p.Val672=) n.3074G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277098A>C | CA349077539 | SCN1A-AS1,SCN9A | c.2759T>G (p.Val920Gly) c.2726T>G (p.Val909Gly) c.416T>G (p.Val139Gly) c.1761T>G n.880A>C c.2372T>G (p.Val791Gly) c.2015T>G (p.Val672Gly) n.3073T>G | |
2 | g.166277098A>G | CA349077541 | SCN1A-AS1,SCN9A | c.2759T>C (p.Val920Ala) c.2726T>C (p.Val909Ala) c.416T>C (p.Val139Ala) c.1761T>C n.880A>G c.2372T>C (p.Val791Ala) c.2015T>C (p.Val672Ala) n.3073T>C | |
2 | g.166277098A>T | CA349077542 | SCN1A-AS1,SCN9A | c.2759T>A (p.Val920Glu) c.2726T>A (p.Val909Glu) c.416T>A (p.Val139Glu) c.1761T>A n.880A>T c.2372T>A (p.Val791Glu) c.2015T>A (p.Val672Glu) n.3073T>A | gnomAD v4 |
2 | g.166277099C>A | CA349077544 | SCN1A-AS1,SCN9A | c.2758G>T (p.Val920Leu) c.2725G>T (p.Val909Leu) c.415G>T (p.Val139Leu) c.1760G>T n.881C>A c.2371G>T (p.Val791Leu) c.2014G>T (p.Val672Leu) n.3072G>T | |
2 | g.166277099C>G | CA349077546 | SCN1A-AS1,SCN9A | c.2758G>C (p.Val920Leu) c.2725G>C (p.Val909Leu) c.415G>C (p.Val139Leu) c.1760G>C n.881C>G c.2371G>C (p.Val791Leu) c.2014G>C (p.Val672Leu) n.3072G>C | |
2 | g.166277099C>T | CA349077548 | SCN1A-AS1,SCN9A | c.2758G>A (p.Val920Met) c.2725G>A (p.Val909Met) c.415G>A (p.Val139Met) c.1760G>A n.881C>T c.2371G>A (p.Val791Met) c.2014G>A (p.Val672Met) n.3072G>A | |
2 | g.166277100A= | CA1304964878 | SCN1A-AS1,SCN9A | c.2757T= (p.Ile919=) c.2724T= (p.Ile908=) c.414T= (p.Ile138=) c.1759T= n.882A= c.2370T= (p.Ile790=) c.2013T= (p.Ile671=) n.3071T= | |
2 | g.166277100A>C | CA349077551 | SCN1A-AS1,SCN9A | c.2757T>G (p.Ile919Met) c.2724T>G (p.Ile908Met) c.414T>G (p.Ile138Met) c.1759T>G n.882A>C c.2370T>G (p.Ile790Met) c.2013T>G (p.Ile671Met) n.3071T>G | |
2 | g.166277100A>G | CA429978135 | SCN1A-AS1,SCN9A | c.2757T>C (p.Ile919=) c.2724T>C (p.Ile908=) c.414T>C (p.Ile138=) c.1759T>C n.882A>G c.2370T>C (p.Ile790=) c.2013T>C (p.Ile671=) n.3071T>C | |
2 | g.166277100A>T | CA429978134 | SCN1A-AS1,SCN9A | c.2757T>A (p.Ile919=) c.2724T>A (p.Ile908=) c.414T>A (p.Ile138=) c.1759T>A n.882A>T c.2370T>A (p.Ile790=) c.2013T>A (p.Ile671=) n.3071T>A | ClinVar dbSNP |
2 | g.166277101A= | CA1304964885 | SCN1A-AS1,SCN9A | c.2756T= (p.Ile919=) c.2723T= (p.Ile908=) c.413T= (p.Ile138=) c.1758T= n.883A= c.2369T= (p.Ile790=) c.2012T= (p.Ile671=) n.3070T= | |
2 | g.166277101A>C | CA349077553 | SCN1A-AS1,SCN9A | c.2756T>G (p.Ile919Ser) c.2723T>G (p.Ile908Ser) c.413T>G (p.Ile138Ser) c.1758T>G n.883A>C c.2369T>G (p.Ile790Ser) c.2012T>G (p.Ile671Ser) n.3070T>G | |
2 | g.166277101A>G | CA349077555 | SCN1A-AS1,SCN9A | c.2756T>C (p.Ile919Thr) c.2723T>C (p.Ile908Thr) c.413T>C (p.Ile138Thr) c.1758T>C n.883A>G c.2369T>C (p.Ile790Thr) c.2012T>C (p.Ile671Thr) n.3070T>C | dbSNP |
2 | g.166277101A>T | CA349077557 | SCN1A-AS1,SCN9A | c.2756T>A (p.Ile919Asn) c.2723T>A (p.Ile908Asn) c.413T>A (p.Ile138Asn) c.1758T>A n.883A>T c.2369T>A (p.Ile790Asn) c.2012T>A (p.Ile671Asn) n.3070T>A | |
2 | g.166277102_166277104del | CA2573133704 | SCN1A-AS1,SCN9A | c.2754_2756del (p.Ile919del) c.2721_2723del (p.Ile908del) c.411_413del (p.Ile138del) c.1756_1758del n.884_886del c.2367_2369del (p.Ile790del) c.2010_2012del (p.Ile671del) n.3068_3070del | ClinVar dbSNP |
2 | g.166277102T>A | CA349077559 | SCN1A-AS1,SCN9A | c.2755A>T (p.Ile919Phe) c.2722A>T (p.Ile908Phe) c.412A>T (p.Ile138Phe) c.1757A>T n.884T>A c.2368A>T (p.Ile790Phe) c.2011A>T (p.Ile671Phe) n.3069A>T | |
2 | g.166277102T>C | CA349077561 | SCN1A-AS1,SCN9A | c.2755A>G (p.Ile919Val) c.2722A>G (p.Ile908Val) c.412A>G (p.Ile138Val) c.1757A>G n.884T>C c.2368A>G (p.Ile790Val) c.2011A>G (p.Ile671Val) n.3069A>G | |
2 | g.166277102T>G | CA349077563 | SCN1A-AS1,SCN9A | c.2755A>C (p.Ile919Leu) c.2722A>C (p.Ile908Leu) c.412A>C (p.Ile138Leu) c.1757A>C n.884T>G c.2368A>C (p.Ile790Leu) c.2011A>C (p.Ile671Leu) n.3069A>C | |
2 | g.166277103C>A | CA429978140 | SCN1A-AS1,SCN9A | c.2754G>T (p.Leu918=) c.2721G>T (p.Leu907=) c.411G>T (p.Leu137=) c.1756G>T n.885C>A c.2367G>T (p.Leu789=) c.2010G>T (p.Leu670=) n.3068G>T | |
2 | g.166277103C>G | CA429978143 | SCN1A-AS1,SCN9A | c.2754G>C (p.Leu918=) c.2721G>C (p.Leu907=) c.411G>C (p.Leu137=) c.1756G>C n.885C>G c.2367G>C (p.Leu789=) c.2010G>C (p.Leu670=) n.3068G>C | |
2 | g.166277103C>T | CA429978145 | SCN1A-AS1,SCN9A | c.2754G>A (p.Leu918=) c.2721G>A (p.Leu907=) c.411G>A (p.Leu137=) c.1756G>A n.885C>T c.2367G>A (p.Leu789=) c.2010G>A (p.Leu670=) n.3068G>A | gnomAD v4 |
2 | g.166277104A>C | CA349077564 | SCN1A-AS1,SCN9A | c.2753T>G (p.Leu918Arg) c.2720T>G (p.Leu907Arg) c.410T>G (p.Leu137Arg) c.1755T>G n.886A>C c.2366T>G (p.Leu789Arg) c.2009T>G (p.Leu670Arg) n.3067T>G | |
2 | g.166277104A>G | CA349077565 | SCN1A-AS1,SCN9A | c.2753T>C (p.Leu918Pro) c.2720T>C (p.Leu907Pro) c.410T>C (p.Leu137Pro) c.1755T>C n.886A>G c.2366T>C (p.Leu789Pro) c.2009T>C (p.Leu670Pro) n.3067T>C | |
2 | g.166277104A>T | CA349077567 | SCN1A-AS1,SCN9A | c.2753T>A (p.Leu918Gln) c.2720T>A (p.Leu907Gln) c.410T>A (p.Leu137Gln) c.1755T>A n.886A>T c.2366T>A (p.Leu789Gln) c.2009T>A (p.Leu670Gln) n.3067T>A | |
2 | g.166277105G>A | CA429978148 | SCN1A-AS1,SCN9A | c.2752C>T (p.Leu918=) c.2719C>T (p.Leu907=) c.409C>T (p.Leu137=) c.1754C>T n.887G>A c.2365C>T (p.Leu789=) c.2008C>T (p.Leu670=) n.3066C>T | gnomAD v4 |
2 | g.166277105G>C | CA349077568 | SCN1A-AS1,SCN9A | c.2752C>G (p.Leu918Val) c.2719C>G (p.Leu907Val) c.409C>G (p.Leu137Val) c.1754C>G n.887G>C c.2365C>G (p.Leu789Val) c.2008C>G (p.Leu670Val) n.3066C>G | gnomAD v4 |
2 | g.166277105G>T | CA349077570 | SCN1A-AS1,SCN9A | c.2752C>A (p.Leu918Met) c.2719C>A (p.Leu907Met) c.409C>A (p.Leu137Met) c.1754C>A n.887G>T c.2365C>A (p.Leu789Met) c.2008C>A (p.Leu670Met) n.3066C>A | |
2 | g.166277106G>A | CA429978152 | SCN1A-AS1,SCN9A | c.2751C>T (p.Phe917=) c.2718C>T (p.Phe906=) c.408C>T (p.Phe136=) c.1753C>T n.888G>A c.2364C>T (p.Phe788=) c.2007C>T (p.Phe669=) n.3065C>T | COSMIC COSMIC |
2 | g.166277106G>C | CA349077572 | SCN1A-AS1,SCN9A | c.2751C>G (p.Phe917Leu) c.2718C>G (p.Phe906Leu) c.408C>G (p.Phe136Leu) c.1753C>G n.888G>C c.2364C>G (p.Phe788Leu) c.2007C>G (p.Phe669Leu) n.3065C>G | |
2 | g.166277106G>T | CA349077573 | SCN1A-AS1,SCN9A | c.2751C>A (p.Phe917Leu) c.2718C>A (p.Phe906Leu) c.408C>A (p.Phe136Leu) c.1753C>A n.888G>T c.2364C>A (p.Phe788Leu) c.2007C>A (p.Phe669Leu) n.3065C>A | |
2 | g.166277107A>C | CA349077578 | SCN1A-AS1,SCN9A | c.2750T>G (p.Phe917Cys) c.2717T>G (p.Phe906Cys) c.407T>G (p.Phe136Cys) c.1752T>G n.889A>C c.2363T>G (p.Phe788Cys) c.2006T>G (p.Phe669Cys) n.3064T>G | |
2 | g.166277107A>G | CA349077580 | SCN1A-AS1,SCN9A | c.2750T>C (p.Phe917Ser) c.2717T>C (p.Phe906Ser) c.407T>C (p.Phe136Ser) c.1752T>C n.889A>G c.2363T>C (p.Phe788Ser) c.2006T>C (p.Phe669Ser) n.3064T>C | |
2 | g.166277107A>T | CA349077576 | SCN1A-AS1,SCN9A | c.2750T>A (p.Phe917Tyr) c.2717T>A (p.Phe906Tyr) c.407T>A (p.Phe136Tyr) c.1752T>A n.889A>T c.2363T>A (p.Phe788Tyr) c.2006T>A (p.Phe669Tyr) n.3064T>A | |
2 | g.166277108A>C | CA349077586 | SCN1A-AS1,SCN9A | c.2749T>G (p.Phe917Val) c.2716T>G (p.Phe906Val) c.406T>G (p.Phe136Val) c.1751T>G n.890A>C c.2362T>G (p.Phe788Val) c.2005T>G (p.Phe669Val) n.3063T>G | |
2 | g.166277108A>G | CA349077583 | SCN1A-AS1,SCN9A | c.2749T>C (p.Phe917Leu) c.2716T>C (p.Phe906Leu) c.406T>C (p.Phe136Leu) c.1751T>C n.890A>G c.2362T>C (p.Phe788Leu) c.2005T>C (p.Phe669Leu) n.3063T>C | |
2 | g.166277108A>T | CA349077585 | SCN1A-AS1,SCN9A | c.2749T>A (p.Phe917Ile) c.2716T>A (p.Phe906Ile) c.406T>A (p.Phe136Ile) c.1751T>A n.890A>T c.2362T>A (p.Phe788Ile) c.2005T>A (p.Phe669Ile) n.3063T>A | |
2 | g.166277109G>A | CA1944210 | SCN1A-AS1,SCN9A | c.2748C>T (p.Ser916=) c.2715C>T (p.Ser905=) c.405C>T (p.Ser135=) c.1750C>T n.891G>A c.2361C>T (p.Ser787=) c.2004C>T (p.Ser668=) n.3062C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166277109G>C | CA429978159 | SCN1A-AS1,SCN9A | c.2748C>G (p.Ser916=) c.2715C>G (p.Ser905=) c.405C>G (p.Ser135=) c.1750C>G n.891G>C c.2361C>G (p.Ser787=) c.2004C>G (p.Ser668=) n.3062C>G | |
2 | g.166277109G= | CA1304964890 | SCN1A-AS1,SCN9A | c.2748C= (p.Ser916=) c.2715C= (p.Ser905=) c.405C= (p.Ser135=) c.1750C= n.891G= c.2361C= (p.Ser787=) c.2004C= (p.Ser668=) n.3062C= | |
2 | g.166277109G>T | CA429978158 | SCN1A-AS1,SCN9A | c.2748C>A (p.Ser916=) c.2715C>A (p.Ser905=) c.405C>A (p.Ser135=) c.1750C>A n.891G>T c.2361C>A (p.Ser787=) c.2004C>A (p.Ser668=) n.3062C>A | |
2 | g.166277110G>A | CA349077595 | SCN1A-AS1,SCN9A | c.2747C>T (p.Ser916Phe) c.2714C>T (p.Ser905Phe) c.404C>T (p.Ser135Phe) c.1749C>T n.892G>A c.2360C>T (p.Ser787Phe) c.2003C>T (p.Ser668Phe) n.3061C>T | COSMIC COSMIC |
2 | g.166277110G>C | CA349077597 | SCN1A-AS1,SCN9A | c.2747C>G (p.Ser916Cys) c.2714C>G (p.Ser905Cys) c.404C>G (p.Ser135Cys) c.1749C>G n.892G>C c.2360C>G (p.Ser787Cys) c.2003C>G (p.Ser668Cys) n.3061C>G | gnomAD v4 |
2 | g.166277110G>T | CA349077598 | SCN1A-AS1,SCN9A | c.2747C>A (p.Ser916Tyr) c.2714C>A (p.Ser905Tyr) c.404C>A (p.Ser135Tyr) c.1749C>A n.892G>T c.2360C>A (p.Ser787Tyr) c.2003C>A (p.Ser668Tyr) n.3061C>A | |
2 | g.166277111A>C | CA349077602 | SCN1A-AS1,SCN9A | c.2746T>G (p.Ser916Ala) c.2713T>G (p.Ser905Ala) c.403T>G (p.Ser135Ala) c.1748T>G n.893A>C c.2359T>G (p.Ser787Ala) c.2002T>G (p.Ser668Ala) n.3060T>G | |
2 | g.166277111A>G | CA349077600 | SCN1A-AS1,SCN9A | c.2746T>C (p.Ser916Pro) c.2713T>C (p.Ser905Pro) c.403T>C (p.Ser135Pro) c.1748T>C n.893A>G c.2359T>C (p.Ser787Pro) c.2002T>C (p.Ser668Pro) n.3060T>C | |
2 | g.166277111A>T | CA349077601 | SCN1A-AS1,SCN9A | c.2746T>A (p.Ser916Thr) c.2713T>A (p.Ser905Thr) c.403T>A (p.Ser135Thr) c.1748T>A n.893A>T c.2359T>A (p.Ser787Thr) c.2002T>A (p.Ser668Thr) n.3060T>A | |
2 | g.166277112G>A | CA429978161 | SCN1A-AS1,SCN9A | c.2745C>T (p.His915=) c.2712C>T (p.His904=) c.402C>T (p.His134=) c.1747C>T n.894G>A c.2358C>T (p.His786=) c.2001C>T (p.His667=) n.3059C>T | gnomAD v4 |
2 | g.166277112G>C | CA349077604 | SCN1A-AS1,SCN9A | c.2745C>G (p.His915Gln) c.2712C>G (p.His904Gln) c.402C>G (p.His134Gln) c.1747C>G n.894G>C c.2358C>G (p.His786Gln) c.2001C>G (p.His667Gln) n.3059C>G | |
2 | g.166277112G>T | CA349077605 | SCN1A-AS1,SCN9A | c.2745C>A (p.His915Gln) c.2712C>A (p.His904Gln) c.402C>A (p.His134Gln) c.1747C>A n.894G>T c.2358C>A (p.His786Gln) c.2001C>A (p.His667Gln) n.3059C>A | |
2 | g.166277113_166277115dup | CA2661767150 | SCN1A-AS1,SCN9A | c.2743_2745dup (p.His915_Ser916insHis) c.2710_2712dup (p.His904_Ser905insHis) c.400_402dup (p.His134_Ser135insHis) c.1745_1747dup n.895_897dup c.2356_2358dup (p.His786_Ser787insHis) c.1999_2001dup (p.His667_Ser668insHis) n.3057_3059dup | gnomAD v4 |
2 | g.166277112_166277128delinsGTGGAAGAAGTCGTTCA | CA1304964897 | SCN1A-AS1,SCN9A | c.2729_2745delinsTGAACGACTTCTTCCAC (p.Met910=) c.2696_2712delinsTGAACGACTTCTTCCAC (p.Met899=) c.386_402delinsTGAACGACTTCTTCCAC (p.Met129=) c.1731_1747delinsTGAACGACTTCTTCCAC n.894_910delinsGTGGAAGAAGTCGTTCA c.2342_2358delinsTGAACGACTTCTTCCAC (p.Met781=) c.1985_2001delinsTGAACGACTTCTTCCAC (p.Met662=) n.3043_3059delinsTGAACGACTTCTTCCAC | |
2 | g.166277113T>A | CA349077606 | SCN1A-AS1,SCN9A | c.2744A>T (p.His915Leu) c.2711A>T (p.His904Leu) c.401A>T (p.His134Leu) c.1746A>T n.895T>A c.2357A>T (p.His786Leu) c.2000A>T (p.His667Leu) n.3058A>T | |
2 | g.166277113T>C | CA349077608 | SCN1A-AS1,SCN9A | c.2744A>G (p.His915Arg) c.2711A>G (p.His904Arg) c.401A>G (p.His134Arg) c.1746A>G n.895T>C c.2357A>G (p.His786Arg) c.2000A>G (p.His667Arg) n.3058A>G | |
2 | g.166277113T>G | CA349077610 | SCN1A-AS1,SCN9A | c.2744A>C (p.His915Pro) c.2711A>C (p.His904Pro) c.401A>C (p.His134Pro) c.1746A>C n.895T>G c.2357A>C (p.His786Pro) c.2000A>C (p.His667Pro) n.3058A>C | |
2 | g.166277115_166277130del | CA1304964901 | SCN1A-AS1,SCN9A | c.2729_2744del (p.Met910ThrfsTer4) c.2696_2711del (p.Met899ThrfsTer4) c.386_401del (p.Met129ThrfsTer4) c.1731_1746del n.897_912del c.2342_2357del (p.Met781ThrfsTer4) c.1985_2000del (p.Met662ThrfsTer4) n.3043_3058del | dbSNP |
2 | g.166277114G>A | CA349077616 | SCN1A-AS1,SCN9A | c.2743C>T (p.His915Tyr) c.2710C>T (p.His904Tyr) c.400C>T (p.His134Tyr) c.1745C>T n.896G>A c.2356C>T (p.His786Tyr) c.1999C>T (p.His667Tyr) n.3057C>T | |
2 | g.166277114G>C | CA349077612 | SCN1A-AS1,SCN9A | c.2743C>G (p.His915Asp) c.2710C>G (p.His904Asp) c.400C>G (p.His134Asp) c.1745C>G n.896G>C c.2356C>G (p.His786Asp) c.1999C>G (p.His667Asp) n.3057C>G | |
2 | g.166277114G>T | CA349077614 | SCN1A-AS1,SCN9A | c.2743C>A (p.His915Asn) c.2710C>A (p.His904Asn) c.400C>A (p.His134Asn) c.1745C>A n.896G>T c.2356C>A (p.His786Asn) c.1999C>A (p.His667Asn) n.3057C>A | |
2 | g.166277115G>A | CA429978166 | SCN1A-AS1,SCN9A | c.2742C>T (p.Phe914=) c.2709C>T (p.Phe903=) c.399C>T (p.Phe133=) c.1744C>T n.897G>A c.2355C>T (p.Phe785=) c.1998C>T (p.Phe666=) n.3056C>T | gnomAD v4 |
2 | g.166277115G>C | CA349077618 | SCN1A-AS1,SCN9A | c.2742C>G (p.Phe914Leu) c.2709C>G (p.Phe903Leu) c.399C>G (p.Phe133Leu) c.1744C>G n.897G>C c.2355C>G (p.Phe785Leu) c.1998C>G (p.Phe666Leu) n.3056C>G | gnomAD v4 |
2 | g.166277115G>T | CA349077620 | SCN1A-AS1,SCN9A | c.2742C>A (p.Phe914Leu) c.2709C>A (p.Phe903Leu) c.399C>A (p.Phe133Leu) c.1744C>A n.897G>T c.2355C>A (p.Phe785Leu) c.1998C>A (p.Phe666Leu) n.3056C>A | |
2 | g.166277116A>C | CA349077622 | SCN1A-AS1,SCN9A | c.2741T>G (p.Phe914Cys) c.2708T>G (p.Phe903Cys) c.398T>G (p.Phe133Cys) c.1743T>G n.898A>C c.2354T>G (p.Phe785Cys) c.1997T>G (p.Phe666Cys) n.3055T>G | |
2 | g.166277116A>G | CA349077623 | SCN1A-AS1,SCN9A | c.2741T>C (p.Phe914Ser) c.2708T>C (p.Phe903Ser) c.398T>C (p.Phe133Ser) c.1743T>C n.898A>G c.2354T>C (p.Phe785Ser) c.1997T>C (p.Phe666Ser) n.3055T>C | |
2 | g.166277116A>T | CA349077624 | SCN1A-AS1,SCN9A | c.2741T>A (p.Phe914Tyr) c.2708T>A (p.Phe903Tyr) c.398T>A (p.Phe133Tyr) c.1743T>A n.898A>T c.2354T>A (p.Phe785Tyr) c.1997T>A (p.Phe666Tyr) n.3055T>A | |
2 | g.166277117A>C | CA349077627 | SCN1A-AS1,SCN9A | c.2740T>G (p.Phe914Val) c.2707T>G (p.Phe903Val) c.397T>G (p.Phe133Val) c.1742T>G n.899A>C c.2353T>G (p.Phe785Val) c.1996T>G (p.Phe666Val) n.3054T>G | |
2 | g.166277117A>G | CA349077629 | SCN1A-AS1,SCN9A | c.2740T>C (p.Phe914Leu) c.2707T>C (p.Phe903Leu) c.397T>C (p.Phe133Leu) c.1742T>C n.899A>G c.2353T>C (p.Phe785Leu) c.1996T>C (p.Phe666Leu) n.3054T>C | |
2 | g.166277117A>T | CA349077630 | SCN1A-AS1,SCN9A | c.2740T>A (p.Phe914Ile) c.2707T>A (p.Phe903Ile) c.397T>A (p.Phe133Ile) c.1742T>A n.899A>T c.2353T>A (p.Phe785Ile) c.1996T>A (p.Phe666Ile) n.3054T>A | |
2 | g.166277118G>A | CA429978167 | SCN1A-AS1,SCN9A | c.2739C>T (p.Phe913=) c.2706C>T (p.Phe902=) c.396C>T (p.Phe132=) c.1741C>T n.900G>A c.2352C>T (p.Phe784=) c.1995C>T (p.Phe665=) n.3053C>T | COSMIC COSMIC |
2 | g.166277118G>C | CA349077633 | SCN1A-AS1,SCN9A | c.2739C>G (p.Phe913Leu) c.2706C>G (p.Phe902Leu) c.396C>G (p.Phe132Leu) c.1741C>G n.900G>C c.2352C>G (p.Phe784Leu) c.1995C>G (p.Phe665Leu) n.3053C>G | |
2 | g.166277118G>T | CA349077635 | SCN1A-AS1,SCN9A | c.2739C>A (p.Phe913Leu) c.2706C>A (p.Phe902Leu) c.396C>A (p.Phe132Leu) c.1741C>A n.900G>T c.2352C>A (p.Phe784Leu) c.1995C>A (p.Phe665Leu) n.3053C>A | |
2 | g.166277119A= | CA1304964903 | SCN1A-AS1,SCN9A | c.2738T= (p.Phe913=) c.2705T= (p.Phe902=) c.395T= (p.Phe132=) c.1740T= n.901A= c.2351T= (p.Phe784=) c.1994T= (p.Phe665=) n.3052T= | |
2 | g.166277119A>C | CA349077636 | SCN1A-AS1,SCN9A | c.2738T>G (p.Phe913Cys) c.2705T>G (p.Phe902Cys) c.395T>G (p.Phe132Cys) c.1740T>G n.901A>C c.2351T>G (p.Phe784Cys) c.1994T>G (p.Phe665Cys) n.3052T>G | |
2 | g.166277119A>G | CA349077638 | SCN1A-AS1,SCN9A | c.2738T>C (p.Phe913Ser) c.2705T>C (p.Phe902Ser) c.395T>C (p.Phe132Ser) c.1740T>C n.901A>G c.2351T>C (p.Phe784Ser) c.1994T>C (p.Phe665Ser) n.3052T>C | dbSNP gnomAD v4 |
2 | g.166277119A>T | CA349077640 | SCN1A-AS1,SCN9A | c.2738T>A (p.Phe913Tyr) c.2705T>A (p.Phe902Tyr) c.395T>A (p.Phe132Tyr) c.1740T>A n.901A>T c.2351T>A (p.Phe784Tyr) c.1994T>A (p.Phe665Tyr) n.3052T>A | |
2 | g.166277120A>C | CA349077642 | SCN1A-AS1,SCN9A | c.2737T>G (p.Phe913Val) c.2704T>G (p.Phe902Val) c.394T>G (p.Phe132Val) c.1739T>G n.902A>C c.2350T>G (p.Phe784Val) c.1993T>G (p.Phe665Val) n.3051T>G | |
2 | g.166277120A>G | CA349077646 | SCN1A-AS1,SCN9A | c.2737T>C (p.Phe913Leu) c.2704T>C (p.Phe902Leu) c.394T>C (p.Phe132Leu) c.1739T>C n.902A>G c.2350T>C (p.Phe784Leu) c.1993T>C (p.Phe665Leu) n.3051T>C | ClinVar |
2 | g.166277120A>T | CA349077644 | SCN1A-AS1,SCN9A | c.2737T>A (p.Phe913Ile) c.2704T>A (p.Phe902Ile) c.394T>A (p.Phe132Ile) c.1739T>A n.902A>T c.2350T>A (p.Phe784Ile) c.1993T>A (p.Phe665Ile) n.3051T>A | |
2 | g.166277121G>A | CA429978169 | SCN1A-AS1,SCN9A | c.2736C>T (p.Asp912=) c.2703C>T (p.Asp901=) c.393C>T (p.Asp131=) c.1738C>T n.903G>A c.2349C>T (p.Asp783=) c.1992C>T (p.Asp664=) n.3050C>T | |
2 | g.166277121G>C | CA349077648 | SCN1A-AS1,SCN9A | c.2736C>G (p.Asp912Glu) c.2703C>G (p.Asp901Glu) c.393C>G (p.Asp131Glu) c.1738C>G n.903G>C c.2349C>G (p.Asp783Glu) c.1992C>G (p.Asp664Glu) n.3050C>G | |
2 | g.166277121G>T | CA349077650 | SCN1A-AS1,SCN9A | c.2736C>A (p.Asp912Glu) c.2703C>A (p.Asp901Glu) c.393C>A (p.Asp131Glu) c.1738C>A n.903G>T c.2349C>A (p.Asp783Glu) c.1992C>A (p.Asp664Glu) n.3050C>A | |
2 | g.166277122T>A | CA349077652 | SCN1A-AS1,SCN9A | c.2735A>T (p.Asp912Val) c.2702A>T (p.Asp901Val) c.392A>T (p.Asp131Val) c.1737A>T n.904T>A c.2348A>T (p.Asp783Val) c.1991A>T (p.Asp664Val) n.3049A>T | |
2 | g.166277122T>C | CA349077654 | SCN1A-AS1,SCN9A | c.2735A>G (p.Asp912Gly) c.2702A>G (p.Asp901Gly) c.392A>G (p.Asp131Gly) c.1737A>G n.904T>C c.2348A>G (p.Asp783Gly) c.1991A>G (p.Asp664Gly) n.3049A>G | |
2 | g.166277122T>G | CA349077656 | SCN1A-AS1,SCN9A | c.2735A>C (p.Asp912Ala) c.2702A>C (p.Asp901Ala) c.392A>C (p.Asp131Ala) c.1737A>C n.904T>G c.2348A>C (p.Asp783Ala) c.1991A>C (p.Asp664Ala) n.3049A>C | |
2 | g.166277123C>A | CA349077658 | SCN1A-AS1,SCN9A | c.2734G>T (p.Asp912Tyr) c.2701G>T (p.Asp901Tyr) c.391G>T (p.Asp131Tyr) c.1736G>T n.905C>A c.2347G>T (p.Asp783Tyr) c.1990G>T (p.Asp664Tyr) n.3048G>T | |
2 | g.166277123C>G | CA349077660 | SCN1A-AS1,SCN9A | c.2734G>C (p.Asp912His) c.2701G>C (p.Asp901His) c.391G>C (p.Asp131His) c.1736G>C n.905C>G c.2347G>C (p.Asp783His) c.1990G>C (p.Asp664His) n.3048G>C | |
2 | g.166277123C>T | CA349077661 | SCN1A-AS1,SCN9A | c.2734G>A (p.Asp912Asn) c.2701G>A (p.Asp901Asn) c.391G>A (p.Asp131Asn) c.1736G>A n.905C>T c.2347G>A (p.Asp783Asn) c.1990G>A (p.Asp664Asn) n.3048G>A | ClinVar dbSNP gnomAD v4 |
2 | g.166277124G>A | CA1944211 | SCN1A-AS1,SCN9A | c.2733C>T (p.Asn911=) c.2700C>T (p.Asn900=) c.390C>T (p.Asn130=) c.1735C>T n.906G>A c.2346C>T (p.Asn782=) c.1989C>T (p.Asn663=) n.3047C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277124G>C | CA349077665 | SCN1A-AS1,SCN9A | c.2733C>G (p.Asn911Lys) c.2700C>G (p.Asn900Lys) c.390C>G (p.Asn130Lys) c.1735C>G n.906G>C c.2346C>G (p.Asn782Lys) c.1989C>G (p.Asn663Lys) n.3047C>G | |
2 | g.166277124G= | CA1304964911 | SCN1A-AS1,SCN9A | c.2733C= (p.Asn911=) c.2700C= (p.Asn900=) c.390C= (p.Asn130=) c.1735C= n.906G= c.2346C= (p.Asn782=) c.1989C= (p.Asn663=) n.3047C= | |
2 | g.166277124G>T | CA349077666 | SCN1A-AS1,SCN9A | c.2733C>A (p.Asn911Lys) c.2700C>A (p.Asn900Lys) c.390C>A (p.Asn130Lys) c.1735C>A n.906G>T c.2346C>A (p.Asn782Lys) c.1989C>A (p.Asn663Lys) n.3047C>A | |
2 | g.166277125T>A | CA349077672 | SCN1A-AS1,SCN9A | c.2732A>T (p.Asn911Ile) c.2699A>T (p.Asn900Ile) c.389A>T (p.Asn130Ile) c.1734A>T n.907T>A c.2345A>T (p.Asn782Ile) c.1988A>T (p.Asn663Ile) n.3046A>T | |
2 | g.166277125T>C | CA349077670 | SCN1A-AS1,SCN9A | c.2732A>G (p.Asn911Ser) c.2699A>G (p.Asn900Ser) c.389A>G (p.Asn130Ser) c.1734A>G n.907T>C c.2345A>G (p.Asn782Ser) c.1988A>G (p.Asn663Ser) n.3046A>G | |
2 | g.166277125T>G | CA349077668 | SCN1A-AS1,SCN9A | c.2732A>C (p.Asn911Thr) c.2699A>C (p.Asn900Thr) c.389A>C (p.Asn130Thr) c.1734A>C n.907T>G c.2345A>C (p.Asn782Thr) c.1988A>C (p.Asn663Thr) n.3046A>C | ClinVar dbSNP |
2 | g.166277125T= | CA1304964920 | SCN1A-AS1,SCN9A | c.2732A= (p.Asn911=) c.2699A= (p.Asn900=) c.389A= (p.Asn130=) c.1734A= n.907T= c.2345A= (p.Asn782=) c.1988A= (p.Asn663=) n.3046A= | |
2 | g.166277126T>A | CA349077674 | SCN1A-AS1,SCN9A | c.2731A>T (p.Asn911Tyr) c.2698A>T (p.Asn900Tyr) c.388A>T (p.Asn130Tyr) c.1733A>T n.908T>A c.2344A>T (p.Asn782Tyr) c.1987A>T (p.Asn663Tyr) n.3045A>T | |
2 | g.166277126T>C | CA349077676 | SCN1A-AS1,SCN9A | c.2731A>G (p.Asn911Asp) c.2698A>G (p.Asn900Asp) c.388A>G (p.Asn130Asp) c.1733A>G n.908T>C c.2344A>G (p.Asn782Asp) c.1987A>G (p.Asn663Asp) n.3045A>G | |
2 | g.166277126T>G | CA349077677 | SCN1A-AS1,SCN9A | c.2731A>C (p.Asn911His) c.2698A>C (p.Asn900His) c.388A>C (p.Asn130His) c.1733A>C n.908T>G c.2344A>C (p.Asn782His) c.1987A>C (p.Asn663His) n.3045A>C | |
2 | g.166277127C>A | CA349077680 | SCN1A-AS1,SCN9A | c.2730G>T (p.Met910Ile) c.2697G>T (p.Met899Ile) c.387G>T (p.Met129Ile) c.1732G>T n.909C>A c.2343G>T (p.Met781Ile) c.1986G>T (p.Met662Ile) n.3044G>T | |
2 | g.166277127C= | CA1304964926 | SCN1A-AS1,SCN9A | c.2730G= (p.Met910=) c.2697G= (p.Met899=) c.387G= (p.Met129=) c.1732G= n.909C= c.2343G= (p.Met781=) c.1986G= (p.Met662=) n.3044G= | |
2 | g.166277127C>G | CA349077682 | SCN1A-AS1,SCN9A | c.2730G>C (p.Met910Ile) c.2697G>C (p.Met899Ile) c.387G>C (p.Met129Ile) c.1732G>C n.909C>G c.2343G>C (p.Met781Ile) c.1986G>C (p.Met662Ile) n.3044G>C | |
2 | g.166277127C>T | CA1944212 | SCN1A-AS1,SCN9A | c.2730G>A (p.Met910Ile) c.2697G>A (p.Met899Ile) c.387G>A (p.Met129Ile) c.1732G>A n.909C>T c.2343G>A (p.Met781Ile) c.1986G>A (p.Met662Ile) n.3044G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277128A>C | CA349077684 | SCN1A-AS1,SCN9A | c.2729T>G (p.Met910Arg) c.2696T>G (p.Met899Arg) c.386T>G (p.Met129Arg) c.1731T>G n.910A>C c.2342T>G (p.Met781Arg) c.1985T>G (p.Met662Arg) n.3043T>G | |
2 | g.166277128A>G | CA349077685 | SCN1A-AS1,SCN9A | c.2729T>C (p.Met910Thr) c.2696T>C (p.Met899Thr) c.386T>C (p.Met129Thr) c.1731T>C n.910A>G c.2342T>C (p.Met781Thr) c.1985T>C (p.Met662Thr) n.3043T>C | |
2 | g.166277128A>T | CA349077687 | SCN1A-AS1,SCN9A | c.2729T>A (p.Met910Lys) c.2696T>A (p.Met899Lys) c.386T>A (p.Met129Lys) c.1731T>A n.910A>T c.2342T>A (p.Met781Lys) c.1985T>A (p.Met662Lys) n.3043T>A | |
2 | g.166277129T>A | CA349077689 | SCN1A-AS1,SCN9A | c.2728A>T (p.Met910Leu) c.2695A>T (p.Met899Leu) c.385A>T (p.Met129Leu) c.1730A>T n.911T>A c.2341A>T (p.Met781Leu) c.1984A>T (p.Met662Leu) n.3042A>T | |
2 | g.166277129T>C | CA349077690 | SCN1A-AS1,SCN9A | c.2728A>G (p.Met910Val) c.2695A>G (p.Met899Val) c.385A>G (p.Met129Val) c.1730A>G n.911T>C c.2341A>G (p.Met781Val) c.1984A>G (p.Met662Val) n.3042A>G | |
2 | g.166277129T>G | CA349077692 | SCN1A-AS1,SCN9A | c.2728A>C (p.Met910Leu) c.2695A>C (p.Met899Leu) c.385A>C (p.Met129Leu) c.1730A>C n.911T>G c.2341A>C (p.Met781Leu) c.1984A>C (p.Met662Leu) n.3042A>C | |
2 | g.166277130G>A | CA1944213 | SCN1A-AS1,SCN9A | c.2727C>T (p.His909=) c.2694C>T (p.His898=) c.384C>T (p.His128=) c.1729C>T n.912G>A c.2340C>T (p.His780=) c.1983C>T (p.His661=) n.3041C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277130G>C | CA349077697 | SCN1A-AS1,SCN9A | c.2727C>G (p.His909Gln) c.2694C>G (p.His898Gln) c.384C>G (p.His128Gln) c.1729C>G n.912G>C c.2340C>G (p.His780Gln) c.1983C>G (p.His661Gln) n.3041C>G | |
2 | g.166277130G= | CA1304964930 | SCN1A-AS1,SCN9A | c.2727C= (p.His909=) c.2694C= (p.His898=) c.384C= (p.His128=) c.1729C= n.912G= c.2340C= (p.His780=) c.1983C= (p.His661=) n.3041C= | |
2 | g.166277130G>T | CA349077694 | SCN1A-AS1,SCN9A | c.2727C>A (p.His909Gln) c.2694C>A (p.His898Gln) c.384C>A (p.His128Gln) c.1729C>A n.912G>T c.2340C>A (p.His780Gln) c.1983C>A (p.His661Gln) n.3041C>A | |
2 | g.166277131T>A | CA349077699 | SCN1A-AS1,SCN9A | c.2726A>T (p.His909Leu) c.2693A>T (p.His898Leu) c.383A>T (p.His128Leu) c.1728A>T n.913T>A c.2339A>T (p.His780Leu) c.1982A>T (p.His661Leu) n.3040A>T | |
2 | g.166277131T>C | CA349077702 | SCN1A-AS1,SCN9A | c.2726A>G (p.His909Arg) c.2693A>G (p.His898Arg) c.383A>G (p.His128Arg) c.1728A>G n.913T>C c.2339A>G (p.His780Arg) c.1982A>G (p.His661Arg) n.3040A>G | |
2 | g.166277131T>G | CA349077700 | SCN1A-AS1,SCN9A | c.2726A>C (p.His909Pro) c.2693A>C (p.His898Pro) c.383A>C (p.His128Pro) c.1728A>C n.913T>G c.2339A>C (p.His780Pro) c.1982A>C (p.His661Pro) n.3040A>C | gnomAD v4 |
2 | g.166277132G>A | CA349077705 | SCN1A-AS1,SCN9A | c.2725C>T (p.His909Tyr) c.2692C>T (p.His898Tyr) c.382C>T (p.His128Tyr) c.1727C>T n.914G>A c.2338C>T (p.His780Tyr) c.1981C>T (p.His661Tyr) n.3039C>T | gnomAD v4 |
2 | g.166277132G>C | CA349077706 | SCN1A-AS1,SCN9A | c.2725C>G (p.His909Asp) c.2692C>G (p.His898Asp) c.382C>G (p.His128Asp) c.1727C>G n.914G>C c.2338C>G (p.His780Asp) c.1981C>G (p.His661Asp) n.3039C>G | |
2 | g.166277132G>T | CA349077708 | SCN1A-AS1,SCN9A | c.2725C>A (p.His909Asn) c.2692C>A (p.His898Asn) c.382C>A (p.His128Asn) c.1727C>A n.914G>T c.2338C>A (p.His780Asn) c.1981C>A (p.His661Asn) n.3039C>A | |
2 | g.166277133C>A | CA349077711 | SCN1A-AS1,SCN9A | c.2724G>T (p.Trp908Cys) c.2691G>T (p.Trp897Cys) c.381G>T (p.Trp127Cys) c.1726G>T n.915C>A c.2337G>T (p.Trp779Cys) c.1980G>T (p.Trp660Cys) n.3038G>T | |
2 | g.166277133C= | CA1304964942 | SCN1A-AS1,SCN9A | c.2724G= (p.Trp908=) c.2691G= (p.Trp897=) c.381G= (p.Trp127=) c.1726G= n.915C= c.2337G= (p.Trp779=) c.1980G= (p.Trp660=) n.3038G= | |
2 | g.166277133C>G | CA349077712 | SCN1A-AS1,SCN9A | c.2724G>C (p.Trp908Cys) c.2691G>C (p.Trp897Cys) c.381G>C (p.Trp127Cys) c.1726G>C n.915C>G c.2337G>C (p.Trp779Cys) c.1980G>C (p.Trp660Cys) n.3038G>C | |
2 | g.166277133C>T | CA118137 | SCN1A-AS1,SCN9A | c.2724G>A (p.Trp908Ter) c.2691G>A (p.Trp897Ter) c.381G>A (p.Trp127Ter) c.1726G>A n.915C>T c.2337G>A (p.Trp779Ter) c.1980G>A (p.Trp660Ter) n.3038G>A | ClinVar dbSNP gnomAD v4 |
2 | g.166277134C>A | CA349077716 | SCN1A-AS1,SCN9A | c.2723G>T (p.Trp908Leu) c.2690G>T (p.Trp897Leu) c.380G>T (p.Trp127Leu) c.1725G>T n.916C>A c.2336G>T (p.Trp779Leu) c.1979G>T (p.Trp660Leu) n.3037G>T | |
2 | g.166277134C= | CA1304964952 | SCN1A-AS1,SCN9A | c.2723G= (p.Trp908=) c.2690G= (p.Trp897=) c.380G= (p.Trp127=) c.1725G= n.916C= c.2336G= (p.Trp779=) c.1979G= (p.Trp660=) n.3037G= | |
2 | g.166277134C>G | CA349077717 | SCN1A-AS1,SCN9A | c.2723G>C (p.Trp908Ser) c.2690G>C (p.Trp897Ser) c.380G>C (p.Trp127Ser) c.1725G>C n.916C>G c.2336G>C (p.Trp779Ser) c.1979G>C (p.Trp660Ser) n.3037G>C | |
2 | g.166277134C>T | CA203854 | SCN1A-AS1,SCN9A | c.2723G>A (p.Trp908Ter) c.2690G>A (p.Trp897Ter) c.380G>A (p.Trp127Ter) c.1725G>A n.916C>T c.2336G>A (p.Trp779Ter) c.1979G>A (p.Trp660Ter) n.3037G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277135A>C | CA349077718 | SCN1A-AS1,SCN9A | c.2722T>G (p.Trp908Gly) c.2689T>G (p.Trp897Gly) c.379T>G (p.Trp127Gly) c.1724T>G n.917A>C c.2335T>G (p.Trp779Gly) c.1978T>G (p.Trp660Gly) n.3036T>G | |
2 | g.166277135A>G | CA349077719 | SCN1A-AS1,SCN9A | c.2722T>C (p.Trp908Arg) c.2689T>C (p.Trp897Arg) c.379T>C (p.Trp127Arg) c.1724T>C n.917A>G c.2335T>C (p.Trp779Arg) c.1978T>C (p.Trp660Arg) n.3036T>C | gnomAD v4 |
2 | g.166277135A>T | CA349077720 | SCN1A-AS1,SCN9A | c.2722T>A (p.Trp908Arg) c.2689T>A (p.Trp897Arg) c.379T>A (p.Trp127Arg) c.1724T>A n.917A>T c.2335T>A (p.Trp779Arg) c.1978T>A (p.Trp660Arg) n.3036T>A | |
2 | g.166277136C>A | CA429978261 | SCN1A-AS1,SCN9A | c.2721G>T (p.Arg907=) c.2688G>T (p.Arg896=) c.378G>T (p.Arg126=) c.1723G>T n.918C>A c.2334G>T (p.Arg778=) c.1977G>T (p.Arg659=) n.3035G>T | dbSNP |
2 | g.166277136C= | CA1304964958 | SCN1A-AS1,SCN9A | c.2721G= (p.Arg907=) c.2688G= (p.Arg896=) c.378G= (p.Arg126=) c.1723G= n.918C= c.2334G= (p.Arg778=) c.1977G= (p.Arg659=) n.3035G= | |
2 | g.166277136C>G | CA429978262 | SCN1A-AS1,SCN9A | c.2721G>C (p.Arg907=) c.2688G>C (p.Arg896=) c.378G>C (p.Arg126=) c.1723G>C n.918C>G c.2334G>C (p.Arg778=) c.1977G>C (p.Arg659=) n.3035G>C | |
2 | g.166277136C>T | CA429978263 | SCN1A-AS1,SCN9A | c.2721G>A (p.Arg907=) c.2688G>A (p.Arg896=) c.378G>A (p.Arg126=) c.1723G>A n.918C>T c.2334G>A (p.Arg778=) c.1977G>A (p.Arg659=) n.3035G>A | |
2 | g.166277137C>A | CA349077722 | SCN1A-AS1,SCN9A | c.2720G>T (p.Arg907Leu) c.2687G>T (p.Arg896Leu) c.377G>T (p.Arg126Leu) c.1722G>T n.919C>A c.2333G>T (p.Arg778Leu) c.1976G>T (p.Arg659Leu) n.3034G>T | |
2 | g.166277137C= | CA1304964965 | SCN1A-AS1,SCN9A | c.2720G= (p.Arg907=) c.2687G= (p.Arg896=) c.377G= (p.Arg126=) c.1722G= n.919C= c.2333G= (p.Arg778=) c.1976G= (p.Arg659=) n.3034G= | |
2 | g.166277137C>G | CA349077721 | SCN1A-AS1,SCN9A | c.2720G>C (p.Arg907Pro) c.2687G>C (p.Arg896Pro) c.377G>C (p.Arg126Pro) c.1722G>C n.919C>G c.2333G>C (p.Arg778Pro) c.1976G>C (p.Arg659Pro) n.3034G>C | |
2 | g.166277137C>T | CA59794605 | SCN1A-AS1,SCN9A | c.2720G>A (p.Arg907Gln) c.2687G>A (p.Arg896Gln) c.377G>A (p.Arg126Gln) c.1722G>A n.919C>T c.2333G>A (p.Arg778Gln) c.1976G>A (p.Arg659Gln) n.3034G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277138G>A | CA1944214 | SCN1A-AS1,SCN9A | c.2719C>T (p.Arg907Trp) c.2686C>T (p.Arg896Trp) c.376C>T (p.Arg126Trp) c.1721C>T n.920G>A c.2332C>T (p.Arg778Trp) c.1975C>T (p.Arg659Trp) n.3033C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277138G>C | CA349077723 | SCN1A-AS1,SCN9A | c.2719C>G (p.Arg907Gly) c.2686C>G (p.Arg896Gly) c.376C>G (p.Arg126Gly) c.1721C>G n.920G>C c.2332C>G (p.Arg778Gly) c.1975C>G (p.Arg659Gly) n.3033C>G | |
2 | g.166277138G= | CA1304964971 | SCN1A-AS1,SCN9A | c.2719C= (p.Arg907=) c.2686C= (p.Arg896=) c.376C= (p.Arg126=) c.1721C= n.920G= c.2332C= (p.Arg778=) c.1975C= (p.Arg659=) n.3033C= | |
2 | g.166277138G>T | CA429978270 | SCN1A-AS1,SCN9A | c.2719C>A (p.Arg907=) c.2686C>A (p.Arg896=) c.376C>A (p.Arg126=) c.1721C>A n.920G>T c.2332C>A (p.Arg778=) c.1975C>A (p.Arg659=) n.3033C>A | |
2 | g.166277139T>A | CA429978272 | SCN1A-AS1,SCN9A | c.2718A>T (p.Pro906=) c.2685A>T (p.Pro895=) c.375A>T (p.Pro125=) c.1720A>T n.921T>A c.2331A>T (p.Pro777=) c.1974A>T (p.Pro658=) n.3032A>T | |
2 | g.166277139T>C | CA429978274 | SCN1A-AS1,SCN9A | c.2718A>G (p.Pro906=) c.2685A>G (p.Pro895=) c.375A>G (p.Pro125=) c.1720A>G n.921T>C c.2331A>G (p.Pro777=) c.1974A>G (p.Pro658=) n.3032A>G | ClinVar dbSNP |
2 | g.166277139T>G | CA429978275 | SCN1A-AS1,SCN9A | c.2718A>C (p.Pro906=) c.2685A>C (p.Pro895=) c.375A>C (p.Pro125=) c.1720A>C n.921T>G c.2331A>C (p.Pro777=) c.1974A>C (p.Pro658=) n.3032A>C | |
2 | g.166277140G>A | CA349077724 | SCN1A-AS1,SCN9A | c.2717C>T (p.Pro906Leu) c.2684C>T (p.Pro895Leu) c.374C>T (p.Pro125Leu) c.1719C>T n.922G>A c.2330C>T (p.Pro777Leu) c.1973C>T (p.Pro658Leu) n.3031C>T | |
2 | g.166277140G>C | CA349077725 | SCN1A-AS1,SCN9A | c.2717C>G (p.Pro906Arg) c.2684C>G (p.Pro895Arg) c.374C>G (p.Pro125Arg) c.1719C>G n.922G>C c.2330C>G (p.Pro777Arg) c.1973C>G (p.Pro658Arg) n.3031C>G | |
2 | g.166277140G>T | CA349077726 | SCN1A-AS1,SCN9A | c.2717C>A (p.Pro906Gln) c.2684C>A (p.Pro895Gln) c.374C>A (p.Pro125Gln) c.1719C>A n.922G>T c.2330C>A (p.Pro777Gln) c.1973C>A (p.Pro658Gln) n.3031C>A | |
2 | g.166277141G>A | CA349077727 | SCN1A-AS1,SCN9A | c.2716C>T (p.Pro906Ser) c.2683C>T (p.Pro895Ser) c.373C>T (p.Pro125Ser) c.1718C>T n.923G>A c.2329C>T (p.Pro777Ser) c.1972C>T (p.Pro658Ser) n.3030C>T | dbSNP |
2 | g.166277141G>C | CA349077728 | SCN1A-AS1,SCN9A | c.2716C>G (p.Pro906Ala) c.2683C>G (p.Pro895Ala) c.373C>G (p.Pro125Ala) c.1718C>G n.923G>C c.2329C>G (p.Pro777Ala) c.1972C>G (p.Pro658Ala) n.3030C>G | |
2 | g.166277141G= | CA1304964979 | SCN1A-AS1,SCN9A | c.2716C= (p.Pro906=) c.2683C= (p.Pro895=) c.373C= (p.Pro125=) c.1718C= n.923G= c.2329C= (p.Pro777=) c.1972C= (p.Pro658=) n.3030C= | |
2 | g.166277141G>T | CA349077729 | SCN1A-AS1,SCN9A | c.2716C>A (p.Pro906Thr) c.2683C>A (p.Pro895Thr) c.373C>A (p.Pro125Thr) c.1718C>A n.923G>T c.2329C>A (p.Pro777Thr) c.1972C>A (p.Pro658Thr) n.3030C>A | |
2 | g.166277142G>A | CA429978276 | SCN1A-AS1,SCN9A | c.2715C>T (p.Leu905=) c.2682C>T (p.Leu894=) c.372C>T (p.Leu124=) c.1717C>T n.924G>A c.2328C>T (p.Leu776=) c.1971C>T (p.Leu657=) n.3029C>T | |
2 | g.166277142G>C | CA429978279 | SCN1A-AS1,SCN9A | c.2715C>G (p.Leu905=) c.2682C>G (p.Leu894=) c.372C>G (p.Leu124=) c.1717C>G n.924G>C c.2328C>G (p.Leu776=) c.1971C>G (p.Leu657=) n.3029C>G | |
2 | g.166277142G>T | CA429978278 | SCN1A-AS1,SCN9A | c.2715C>A (p.Leu905=) c.2682C>A (p.Leu894=) c.372C>A (p.Leu124=) c.1717C>A n.924G>T c.2328C>A (p.Leu776=) c.1971C>A (p.Leu657=) n.3029C>A | |
2 | g.166277143A= | CA1304964982 | SCN1A-AS1,SCN9A | c.2714T= (p.Leu905=) c.2681T= (p.Leu894=) c.371T= (p.Leu124=) c.1716T= n.925A= c.2327T= (p.Leu776=) c.1970T= (p.Leu657=) n.3028T= | |
2 | g.166277143A>C | CA349077730 | SCN1A-AS1,SCN9A | c.2714T>G (p.Leu905Arg) c.2681T>G (p.Leu894Arg) c.371T>G (p.Leu124Arg) c.1716T>G n.925A>C c.2327T>G (p.Leu776Arg) c.1970T>G (p.Leu657Arg) n.3028T>G | |
2 | g.166277143A>G | CA349077731 | SCN1A-AS1,SCN9A | c.2714T>C (p.Leu905Pro) c.2681T>C (p.Leu894Pro) c.371T>C (p.Leu124Pro) c.1716T>C n.925A>G c.2327T>C (p.Leu776Pro) c.1970T>C (p.Leu657Pro) n.3028T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277143A>T | CA349077732 | SCN1A-AS1,SCN9A | c.2714T>A (p.Leu905His) c.2681T>A (p.Leu894His) c.371T>A (p.Leu124His) c.1716T>A n.925A>T c.2327T>A (p.Leu776His) c.1970T>A (p.Leu657His) n.3028T>A | |
2 | g.166277144G>A | CA349077735 | SCN1A-AS1,SCN9A | c.2713C>T (p.Leu905Phe) c.2680C>T (p.Leu894Phe) c.370C>T (p.Leu124Phe) c.1715C>T n.926G>A c.2326C>T (p.Leu776Phe) c.1969C>T (p.Leu657Phe) n.3027C>T | gnomAD v4 |
2 | g.166277144G>C | CA349077734 | SCN1A-AS1,SCN9A | c.2713C>G (p.Leu905Val) c.2680C>G (p.Leu894Val) c.370C>G (p.Leu124Val) c.1715C>G n.926G>C c.2326C>G (p.Leu776Val) c.1969C>G (p.Leu657Val) n.3027C>G | |
2 | g.166277144G>T | CA349077733 | SCN1A-AS1,SCN9A | c.2713C>A (p.Leu905Ile) c.2680C>A (p.Leu894Ile) c.370C>A (p.Leu124Ile) c.1715C>A n.926G>T c.2326C>A (p.Leu776Ile) c.1969C>A (p.Leu657Ile) n.3027C>A | |
2 | g.166277145C>A | CA429978281 | SCN1A-AS1,SCN9A | c.2712G>T (p.Thr904=) c.2679G>T (p.Thr893=) c.369G>T (p.Thr123=) c.1714G>T n.927C>A c.2325G>T (p.Thr775=) c.1968G>T (p.Thr656=) n.3026G>T | gnomAD v3 gnomAD v4 |
2 | g.166277145C= | CA1304964986 | SCN1A-AS1,SCN9A | c.2712G= (p.Thr904=) c.2679G= (p.Thr893=) c.369G= (p.Thr123=) c.1714G= n.927C= c.2325G= (p.Thr775=) c.1968G= (p.Thr656=) n.3026G= | |
2 | g.166277145C>G | CA1944216 | SCN1A-AS1,SCN9A | c.2712G>C (p.Thr904=) c.2679G>C (p.Thr893=) c.369G>C (p.Thr123=) c.1714G>C n.927C>G c.2325G>C (p.Thr775=) c.1968G>C (p.Thr656=) n.3026G>C | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.166277145C>T | CA1944215 | SCN1A-AS1,SCN9A | c.2712G>A (p.Thr904=) c.2679G>A (p.Thr893=) c.369G>A (p.Thr123=) c.1714G>A n.927C>T c.2325G>A (p.Thr775=) c.1968G>A (p.Thr656=) n.3026G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277146G>A | CA1944217 | SCN1A-AS1,SCN9A | c.2711C>T (p.Thr904Met) c.2678C>T (p.Thr893Met) c.368C>T (p.Thr123Met) c.1713C>T n.928G>A c.2324C>T (p.Thr775Met) c.1967C>T (p.Thr656Met) n.3025C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277146G>C | CA349077736 | SCN1A-AS1,SCN9A | c.2711C>G (p.Thr904Arg) c.2678C>G (p.Thr893Arg) c.368C>G (p.Thr123Arg) c.1713C>G n.928G>C c.2324C>G (p.Thr775Arg) c.1967C>G (p.Thr656Arg) n.3025C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277146G= | CA1304964995 | SCN1A-AS1,SCN9A | c.2711C= (p.Thr904=) c.2678C= (p.Thr893=) c.368C= (p.Thr123=) c.1713C= n.928G= c.2324C= (p.Thr775=) c.1967C= (p.Thr656=) n.3025C= | |
2 | g.166277146G>T | CA349077737 | SCN1A-AS1,SCN9A | c.2711C>A (p.Thr904Lys) c.2678C>A (p.Thr893Lys) c.368C>A (p.Thr123Lys) c.1713C>A n.928G>T c.2324C>A (p.Thr775Lys) c.1967C>A (p.Thr656Lys) n.3025C>A | |
2 | g.166277147T>A | CA349077738 | SCN1A-AS1,SCN9A | c.2710A>T (p.Thr904Ser) c.2677A>T (p.Thr893Ser) c.367A>T (p.Thr123Ser) c.1712A>T n.929T>A c.2323A>T (p.Thr775Ser) c.1966A>T (p.Thr656Ser) n.3024A>T | |
2 | g.166277147T>C | CA349077739 | SCN1A-AS1,SCN9A | c.2710A>G (p.Thr904Ala) c.2677A>G (p.Thr893Ala) c.367A>G (p.Thr123Ala) c.1712A>G n.929T>C c.2323A>G (p.Thr775Ala) c.1966A>G (p.Thr656Ala) n.3024A>G | |
2 | g.166277147T>G | CA349077740 | SCN1A-AS1,SCN9A | c.2710A>C (p.Thr904Pro) c.2677A>C (p.Thr893Pro) c.367A>C (p.Thr123Pro) c.1712A>C n.929T>G c.2323A>C (p.Thr775Pro) c.1966A>C (p.Thr656Pro) n.3024A>C | |
2 | g.166277147_166277148delinsTA | CA1304965007 | SCN1A-AS1,SCN9A | c.2709_2710delinsTA (p.Cys903=) c.2676_2677delinsTA (p.Cys892=) c.366_367delinsTA (p.Cys122=) c.1711_1712delinsTA n.929_930delinsTA c.2322_2323delinsTA (p.Cys774=) c.1965_1966delinsTA (p.Cys655=) n.3023_3024delinsTA | |
2 | g.166277148del | CA1139657336 | SCN1A-AS1,SCN9A | c.2709del (p.Cys903Ter) c.2676del (p.Cys892Ter) c.366del (p.Cys122Ter) c.1711del n.930del c.2322del (p.Cys774Ter) c.1965del (p.Cys655Ter) n.3023del | ClinVar dbSNP gnomAD v4 |
2 | g.166277148A>C | CA349077741 | SCN1A-AS1,SCN9A | c.2709T>G (p.Cys903Trp) c.2676T>G (p.Cys892Trp) c.366T>G (p.Cys122Trp) c.1711T>G n.930A>C c.2322T>G (p.Cys774Trp) c.1965T>G (p.Cys655Trp) n.3023T>G | |
2 | g.166277148A>G | CA429978288 | SCN1A-AS1,SCN9A | c.2709T>C (p.Cys903=) c.2676T>C (p.Cys892=) c.366T>C (p.Cys122=) c.1711T>C n.930A>G c.2322T>C (p.Cys774=) c.1965T>C (p.Cys655=) n.3023T>C | |
2 | g.166277148A>T | CA349077742 | SCN1A-AS1,SCN9A | c.2709T>A (p.Cys903Ter) c.2676T>A (p.Cys892Ter) c.366T>A (p.Cys122Ter) c.1711T>A n.930A>T c.2322T>A (p.Cys774Ter) c.1965T>A (p.Cys655Ter) n.3023T>A | |
2 | g.166277149C>A | CA349077743 | SCN1A-AS1,SCN9A | c.2708G>T (p.Cys903Phe) c.2675G>T (p.Cys892Phe) c.365G>T (p.Cys122Phe) c.1710G>T n.931C>A c.2321G>T (p.Cys774Phe) c.1964G>T (p.Cys655Phe) n.3022G>T | |
2 | g.166277149C>G | CA349077744 | SCN1A-AS1,SCN9A | c.2708G>C (p.Cys903Ser) c.2675G>C (p.Cys892Ser) c.365G>C (p.Cys122Ser) c.1710G>C n.931C>G c.2321G>C (p.Cys774Ser) c.1964G>C (p.Cys655Ser) n.3022G>C | |
2 | g.166277149C>T | CA349077745 | SCN1A-AS1,SCN9A | c.2708G>A (p.Cys903Tyr) c.2675G>A (p.Cys892Tyr) c.365G>A (p.Cys122Tyr) c.1710G>A n.931C>T c.2321G>A (p.Cys774Tyr) c.1964G>A (p.Cys655Tyr) n.3022G>A | |
2 | g.166277150A= | CA1304965015 | SCN1A-AS1,SCN9A | c.2707T= (p.Cys903=) c.2674T= (p.Cys892=) c.364T= (p.Cys122=) c.1709T= n.932A= c.2320T= (p.Cys774=) c.1963T= (p.Cys655=) n.3021T= | |
2 | g.166277150A>C | CA349077748 | SCN1A-AS1,SCN9A | c.2707T>G (p.Cys903Gly) c.2674T>G (p.Cys892Gly) c.364T>G (p.Cys122Gly) c.1709T>G n.932A>C c.2320T>G (p.Cys774Gly) c.1963T>G (p.Cys655Gly) n.3021T>G | dbSNP |
2 | g.166277150A>G | CA349077746 | SCN1A-AS1,SCN9A | c.2707T>C (p.Cys903Arg) c.2674T>C (p.Cys892Arg) c.364T>C (p.Cys122Arg) c.1709T>C n.932A>G c.2320T>C (p.Cys774Arg) c.1963T>C (p.Cys655Arg) n.3021T>C | gnomAD v4 |
2 | g.166277150A>T | CA349077747 | SCN1A-AS1,SCN9A | c.2707T>A (p.Cys903Ser) c.2674T>A (p.Cys892Ser) c.364T>A (p.Cys122Ser) c.1709T>A n.932A>T c.2320T>A (p.Cys774Ser) c.1963T>A (p.Cys655Ser) n.3021T>A | |
2 | g.166277151G>A | CA429978291 | SCN1A-AS1,SCN9A | c.2706C>T (p.Asp902=) c.2673C>T (p.Asp891=) c.363C>T (p.Asp121=) c.1708C>T n.933G>A c.2319C>T (p.Asp773=) c.1962C>T (p.Asp654=) n.3020C>T | |
2 | g.166277151G>C | CA349077749 | SCN1A-AS1,SCN9A | c.2706C>G (p.Asp902Glu) c.2673C>G (p.Asp891Glu) c.363C>G (p.Asp121Glu) c.1708C>G n.933G>C c.2319C>G (p.Asp773Glu) c.1962C>G (p.Asp654Glu) n.3020C>G | |
2 | g.166277151G>T | CA349077750 | SCN1A-AS1,SCN9A | c.2706C>A (p.Asp902Glu) c.2673C>A (p.Asp891Glu) c.363C>A (p.Asp121Glu) c.1708C>A n.933G>T c.2319C>A (p.Asp773Glu) c.1962C>A (p.Asp654Glu) n.3020C>A | gnomAD v4 |