Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.166277152T>A | CA349077751 | SCN1A-AS1,SCN9A | c.2705A>T (p.Asp902Val) c.2672A>T (p.Asp891Val) c.362A>T (p.Asp121Val) c.1707A>T n.934T>A c.2318A>T (p.Asp773Val) c.1961A>T (p.Asp654Val) n.3019A>T | |
2 | g.166277152T>C | CA349077752 | SCN1A-AS1,SCN9A | c.2705A>G (p.Asp902Gly) c.2672A>G (p.Asp891Gly) c.362A>G (p.Asp121Gly) c.1707A>G n.934T>C c.2318A>G (p.Asp773Gly) c.1961A>G (p.Asp654Gly) n.3019A>G | gnomAD v4 |
2 | g.166277152T>G | CA349077753 | SCN1A-AS1,SCN9A | c.2705A>C (p.Asp902Ala) c.2672A>C (p.Asp891Ala) c.362A>C (p.Asp121Ala) c.1707A>C n.934T>G c.2318A>C (p.Asp773Ala) c.1961A>C (p.Asp654Ala) n.3019A>C | |
2 | g.166277156_166277158del | CA2661767151 | SCN1A-AS1,SCN9A | c.2703_2705del (p.Asp902del) c.2670_2672del (p.Asp891del) c.360_362del (p.Asp121del) c.1705_1707del n.938_940del c.2316_2318del (p.Asp773del) c.1959_1961del (p.Asp654del) n.3017_3019del | gnomAD v4 |
2 | g.166277153C>A | CA349077754 | SCN1A-AS1,SCN9A | c.2704G>T (p.Asp902Tyr) c.2671G>T (p.Asp891Tyr) c.361G>T (p.Asp121Tyr) c.1706G>T n.935C>A c.2317G>T (p.Asp773Tyr) c.1960G>T (p.Asp654Tyr) n.3018G>T | COSMIC COSMIC |
2 | g.166277153C= | CA1304965022 | SCN1A-AS1,SCN9A | c.2704G= (p.Asp902=) c.2671G= (p.Asp891=) c.361G= (p.Asp121=) c.1706G= n.935C= c.2317G= (p.Asp773=) c.1960G= (p.Asp654=) n.3018G= | |
2 | g.166277153C>G | CA349077755 | SCN1A-AS1,SCN9A | c.2704G>C (p.Asp902His) c.2671G>C (p.Asp891His) c.361G>C (p.Asp121His) c.1706G>C n.935C>G c.2317G>C (p.Asp773His) c.1960G>C (p.Asp654His) n.3018G>C | |
2 | g.166277153C>T | CA349077756 | SCN1A-AS1,SCN9A | c.2704G>A (p.Asp902Asn) c.2671G>A (p.Asp891Asn) c.361G>A (p.Asp121Asn) c.1706G>A n.935C>T c.2317G>A (p.Asp773Asn) c.1960G>A (p.Asp654Asn) n.3018G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277154A>C | CA349077757 | SCN1A-AS1,SCN9A | c.2703T>G (p.Asp901Glu) c.2670T>G (p.Asp890Glu) c.360T>G (p.Asp120Glu) c.1705T>G n.936A>C c.2316T>G (p.Asp772Glu) c.1959T>G (p.Asp653Glu) n.3017T>G | |
2 | g.166277154A>G | CA429978297 | SCN1A-AS1,SCN9A | c.2703T>C (p.Asp901=) c.2670T>C (p.Asp890=) c.360T>C (p.Asp120=) c.1705T>C n.936A>G c.2316T>C (p.Asp772=) c.1959T>C (p.Asp653=) n.3017T>C | |
2 | g.166277154A>T | CA349077758 | SCN1A-AS1,SCN9A | c.2703T>A (p.Asp901Glu) c.2670T>A (p.Asp890Glu) c.360T>A (p.Asp120Glu) c.1705T>A n.936A>T c.2316T>A (p.Asp772Glu) c.1959T>A (p.Asp653Glu) n.3017T>A | |
2 | g.166277155T>A | CA349077759 | SCN1A-AS1,SCN9A | c.2702A>T (p.Asp901Val) c.2669A>T (p.Asp890Val) c.359A>T (p.Asp120Val) c.1704A>T n.937T>A c.2315A>T (p.Asp772Val) c.1958A>T (p.Asp653Val) n.3016A>T | |
2 | g.166277155T>C | CA349077760 | SCN1A-AS1,SCN9A | c.2702A>G (p.Asp901Gly) c.2669A>G (p.Asp890Gly) c.359A>G (p.Asp120Gly) c.1704A>G n.937T>C c.2315A>G (p.Asp772Gly) c.1958A>G (p.Asp653Gly) n.3016A>G | ClinVar |
2 | g.166277155T>G | CA349077761 | SCN1A-AS1,SCN9A | c.2702A>C (p.Asp901Ala) c.2669A>C (p.Asp890Ala) c.359A>C (p.Asp120Ala) c.1704A>C n.937T>G c.2315A>C (p.Asp772Ala) c.1958A>C (p.Asp653Ala) n.3016A>C | |
2 | g.166277156C>A | CA349077763 | SCN1A-AS1,SCN9A | c.2701G>T (p.Asp901Tyr) c.2668G>T (p.Asp890Tyr) c.358G>T (p.Asp120Tyr) c.1703G>T n.938C>A c.2314G>T (p.Asp772Tyr) c.1957G>T (p.Asp653Tyr) n.3015G>T | |
2 | g.166277156C= | CA1304965025 | SCN1A-AS1,SCN9A | c.2701G= (p.Asp901=) c.2668G= (p.Asp890=) c.358G= (p.Asp120=) c.1703G= n.938C= c.2314G= (p.Asp772=) c.1957G= (p.Asp653=) n.3015G= | |
2 | g.166277156C>G | CA349077764 | SCN1A-AS1,SCN9A | c.2701G>C (p.Asp901His) c.2668G>C (p.Asp890His) c.358G>C (p.Asp120His) c.1703G>C n.938C>G c.2314G>C (p.Asp772His) c.1957G>C (p.Asp653His) n.3015G>C | |
2 | g.166277156C>T | CA349077762 | SCN1A-AS1,SCN9A | c.2701G>A (p.Asp901Asn) c.2668G>A (p.Asp890Asn) c.358G>A (p.Asp120Asn) c.1703G>A n.938C>T c.2314G>A (p.Asp772Asn) c.1957G>A (p.Asp653Asn) n.3015G>A | dbSNP COSMIC COSMIC |
2 | g.166277157A= | CA1304965031 | SCN1A-AS1,SCN9A | c.2700T= (p.Asn900=) c.2667T= (p.Asn889=) c.357T= (p.Asn119=) c.1702T= n.939A= c.2313T= (p.Asn771=) c.1956T= (p.Asn652=) n.3014T= | |
2 | g.166277157A>C | CA349077765 | SCN1A-AS1,SCN9A | c.2700T>G (p.Asn900Lys) c.2667T>G (p.Asn889Lys) c.357T>G (p.Asn119Lys) c.1702T>G n.939A>C c.2313T>G (p.Asn771Lys) c.1956T>G (p.Asn652Lys) n.3014T>G | |
2 | g.166277157A>G | CA1944218 | SCN1A-AS1,SCN9A | c.2700T>C (p.Asn900=) c.2667T>C (p.Asn889=) c.357T>C (p.Asn119=) c.1702T>C n.939A>G c.2313T>C (p.Asn771=) c.1956T>C (p.Asn652=) n.3014T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277157A>T | CA349077766 | SCN1A-AS1,SCN9A | c.2700T>A (p.Asn900Lys) c.2667T>A (p.Asn889Lys) c.357T>A (p.Asn119Lys) c.1702T>A n.939A>T c.2313T>A (p.Asn771Lys) c.1956T>A (p.Asn652Lys) n.3014T>A | |
2 | g.166277158T>A | CA349077767 | SCN1A-AS1,SCN9A | c.2699A>T (p.Asn900Ile) c.2666A>T (p.Asn889Ile) c.356A>T (p.Asn119Ile) c.1701A>T n.940T>A c.2312A>T (p.Asn771Ile) c.1955A>T (p.Asn652Ile) n.3013A>T | |
2 | g.166277158T>C | CA349077768 | SCN1A-AS1,SCN9A | c.2699A>G (p.Asn900Ser) c.2666A>G (p.Asn889Ser) c.356A>G (p.Asn119Ser) c.1701A>G n.940T>C c.2312A>G (p.Asn771Ser) c.1955A>G (p.Asn652Ser) n.3013A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277158T>G | CA349077769 | SCN1A-AS1,SCN9A | c.2699A>C (p.Asn900Thr) c.2666A>C (p.Asn889Thr) c.356A>C (p.Asn119Thr) c.1701A>C n.940T>G c.2312A>C (p.Asn771Thr) c.1955A>C (p.Asn652Thr) n.3013A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277158T= | CA1304965034 | SCN1A-AS1,SCN9A | c.2699A= (p.Asn900=) c.2666A= (p.Asn889=) c.356A= (p.Asn119=) c.1701A= n.940T= c.2312A= (p.Asn771=) c.1955A= (p.Asn652=) n.3013A= | |
2 | g.166277159T>A | CA349077770 | SCN1A-AS1,SCN9A | c.2698A>T (p.Asn900Tyr) c.2665A>T (p.Asn889Tyr) c.355A>T (p.Asn119Tyr) c.1700A>T n.941T>A c.2311A>T (p.Asn771Tyr) c.1954A>T (p.Asn652Tyr) n.3012A>T | |
2 | g.166277159T>C | CA349077771 | SCN1A-AS1,SCN9A | c.2698A>G (p.Asn900Asp) c.2665A>G (p.Asn889Asp) c.355A>G (p.Asn119Asp) c.1700A>G n.941T>C c.2311A>G (p.Asn771Asp) c.1954A>G (p.Asn652Asp) n.3012A>G | |
2 | g.166277159T>G | CA349077772 | SCN1A-AS1,SCN9A | c.2698A>C (p.Asn900His) c.2665A>C (p.Asn889His) c.355A>C (p.Asn119His) c.1700A>C n.941T>G c.2311A>C (p.Asn771His) c.1954A>C (p.Asn652His) n.3012A>C | ClinVar dbSNP |
2 | g.166277159T= | CA1304965042 | SCN1A-AS1,SCN9A | c.2698A= (p.Asn900=) c.2665A= (p.Asn889=) c.355A= (p.Asn119=) c.1700A= n.941T= c.2311A= (p.Asn771=) c.1954A= (p.Asn652=) n.3012A= | |
2 | g.166277160G>A | CA429978304 | SCN1A-AS1,SCN9A | c.2697C>T (p.Ile899=) c.2664C>T (p.Ile888=) c.354C>T (p.Ile118=) c.1699C>T n.942G>A c.2310C>T (p.Ile770=) c.1953C>T (p.Ile651=) n.3011C>T | |
2 | g.166277160G>C | CA349077773 | SCN1A-AS1,SCN9A | c.2697C>G (p.Ile899Met) c.2664C>G (p.Ile888Met) c.354C>G (p.Ile118Met) c.1699C>G n.942G>C c.2310C>G (p.Ile770Met) c.1953C>G (p.Ile651Met) n.3011C>G | |
2 | g.166277160G>T | CA429978307 | SCN1A-AS1,SCN9A | c.2697C>A (p.Ile899=) c.2664C>A (p.Ile888=) c.354C>A (p.Ile118=) c.1699C>A n.942G>T c.2310C>A (p.Ile770=) c.1953C>A (p.Ile651=) n.3011C>A | |
2 | g.166277161A>C | CA349077776 | SCN1A-AS1,SCN9A | c.2696T>G (p.Ile899Ser) c.2663T>G (p.Ile888Ser) c.353T>G (p.Ile118Ser) c.1698T>G n.943A>C c.2309T>G (p.Ile770Ser) c.1952T>G (p.Ile651Ser) n.3010T>G | |
2 | g.166277161A>G | CA349077774 | SCN1A-AS1,SCN9A | c.2696T>C (p.Ile899Thr) c.2663T>C (p.Ile888Thr) c.353T>C (p.Ile118Thr) c.1698T>C n.943A>G c.2309T>C (p.Ile770Thr) c.1952T>C (p.Ile651Thr) n.3010T>C | |
2 | g.166277161A>T | CA349077775 | SCN1A-AS1,SCN9A | c.2696T>A (p.Ile899Asn) c.2663T>A (p.Ile888Asn) c.353T>A (p.Ile118Asn) c.1698T>A n.943A>T c.2309T>A (p.Ile770Asn) c.1952T>A (p.Ile651Asn) n.3010T>A | |
2 | g.166277162T>A | CA59794630 | SCN1A-AS1,SCN9A | c.2695A>T (p.Ile899Phe) c.2662A>T (p.Ile888Phe) c.352A>T (p.Ile118Phe) c.1697A>T n.944T>A c.2308A>T (p.Ile770Phe) c.1951A>T (p.Ile651Phe) n.3009A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277162T>C | CA349077777 | SCN1A-AS1,SCN9A | c.2695A>G (p.Ile899Val) c.2662A>G (p.Ile888Val) c.352A>G (p.Ile118Val) c.1697A>G n.944T>C c.2308A>G (p.Ile770Val) c.1951A>G (p.Ile651Val) n.3009A>G | |
2 | g.166277162T>G | CA349077778 | SCN1A-AS1,SCN9A | c.2695A>C (p.Ile899Leu) c.2662A>C (p.Ile888Leu) c.352A>C (p.Ile118Leu) c.1697A>C n.944T>G c.2308A>C (p.Ile770Leu) c.1951A>C (p.Ile651Leu) n.3009A>C | |
2 | g.166277162T= | CA1304965052 | SCN1A-AS1,SCN9A | c.2695A= (p.Ile899=) c.2662A= (p.Ile888=) c.352A= (p.Ile118=) c.1697A= n.944T= c.2308A= (p.Ile770=) c.1951A= (p.Ile651=) n.3009A= | |
2 | g.166277163C>A | CA349077779 | SCN1A-AS1,SCN9A | c.2694G>T (p.Lys898Asn) c.2661G>T (p.Lys887Asn) c.351G>T (p.Lys117Asn) c.1696G>T n.945C>A c.2307G>T (p.Lys769Asn) c.1950G>T (p.Lys650Asn) n.3008G>T | |
2 | g.166277163C>G | CA349077780 | SCN1A-AS1,SCN9A | c.2694G>C (p.Lys898Asn) c.2661G>C (p.Lys887Asn) c.351G>C (p.Lys117Asn) c.1696G>C n.945C>G c.2307G>C (p.Lys769Asn) c.1950G>C (p.Lys650Asn) n.3008G>C | |
2 | g.166277163C>T | CA429978310 | SCN1A-AS1,SCN9A | c.2694G>A (p.Lys898=) c.2661G>A (p.Lys887=) c.351G>A (p.Lys117=) c.1696G>A n.945C>T c.2307G>A (p.Lys769=) c.1950G>A (p.Lys650=) n.3008G>A | |
2 | g.166277164T>A | CA349077781 | SCN1A-AS1,SCN9A | c.2693A>T (p.Lys898Met) c.2660A>T (p.Lys887Met) c.350A>T (p.Lys117Met) c.1695A>T n.946T>A c.2306A>T (p.Lys769Met) c.1949A>T (p.Lys650Met) n.3007A>T | |
2 | g.166277164T>C | CA349077783 | SCN1A-AS1,SCN9A | c.2693A>G (p.Lys898Arg) c.2660A>G (p.Lys887Arg) c.350A>G (p.Lys117Arg) c.1695A>G n.946T>C c.2306A>G (p.Lys769Arg) c.1949A>G (p.Lys650Arg) n.3007A>G | ClinVar dbSNP |
2 | g.166277164T>G | CA349077782 | SCN1A-AS1,SCN9A | c.2693A>C (p.Lys898Thr) c.2660A>C (p.Lys887Thr) c.350A>C (p.Lys117Thr) c.1695A>C n.946T>G c.2306A>C (p.Lys769Thr) c.1949A>C (p.Lys650Thr) n.3007A>C | |
2 | g.166277165T>A | CA349077784 | SCN1A-AS1,SCN9A | c.2692A>T (p.Lys898Ter) c.2659A>T (p.Lys887Ter) c.349A>T (p.Lys117Ter) c.1694A>T n.947T>A c.2305A>T (p.Lys769Ter) c.1948A>T (p.Lys650Ter) n.3006A>T | |
2 | g.166277165T>C | CA349077785 | SCN1A-AS1,SCN9A | c.2692A>G (p.Lys898Glu) c.2659A>G (p.Lys887Glu) c.349A>G (p.Lys117Glu) c.1694A>G n.947T>C c.2305A>G (p.Lys769Glu) c.1948A>G (p.Lys650Glu) n.3006A>G | |
2 | g.166277165T>G | CA349077786 | SCN1A-AS1,SCN9A | c.2692A>C (p.Lys898Gln) c.2659A>C (p.Lys887Gln) c.349A>C (p.Lys117Gln) c.1694A>C n.947T>G c.2305A>C (p.Lys769Gln) c.1948A>C (p.Lys650Gln) n.3006A>C | |
2 | g.166277166G>A | CA16610178 | SCN1A-AS1,SCN9A | c.2691C>T (p.Cys897=) c.2658C>T (p.Cys886=) c.348C>T (p.Cys116=) c.1693C>T n.948G>A c.2304C>T (p.Cys768=) c.1947C>T (p.Cys649=) n.3005C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277166G>C | CA349077787 | SCN1A-AS1,SCN9A | c.2691C>G (p.Cys897Trp) c.2658C>G (p.Cys886Trp) c.348C>G (p.Cys116Trp) c.1693C>G n.948G>C c.2304C>G (p.Cys768Trp) c.1947C>G (p.Cys649Trp) n.3005C>G | |
2 | g.166277166G= | CA1304965057 | SCN1A-AS1,SCN9A | c.2691C= (p.Cys897=) c.2658C= (p.Cys886=) c.348C= (p.Cys116=) c.1693C= n.948G= c.2304C= (p.Cys768=) c.1947C= (p.Cys649=) n.3005C= | |
2 | g.166277166G>T | CA349077788 | SCN1A-AS1,SCN9A | c.2691C>A (p.Cys897Ter) c.2658C>A (p.Cys886Ter) c.348C>A (p.Cys116Ter) c.1693C>A n.948G>T c.2304C>A (p.Cys768Ter) c.1947C>A (p.Cys649Ter) n.3005C>A | |
2 | g.166277167C>A | CA349077789 | SCN1A-AS1,SCN9A | c.2690G>T (p.Cys897Phe) c.2657G>T (p.Cys886Phe) c.347G>T (p.Cys116Phe) c.1692G>T n.949C>A c.2303G>T (p.Cys768Phe) c.1946G>T (p.Cys649Phe) n.3004G>T | gnomAD v4 |
2 | g.166277167C>G | CA349077790 | SCN1A-AS1,SCN9A | c.2690G>C (p.Cys897Ser) c.2657G>C (p.Cys886Ser) c.347G>C (p.Cys116Ser) c.1692G>C n.949C>G c.2303G>C (p.Cys768Ser) c.1946G>C (p.Cys649Ser) n.3004G>C | |
2 | g.166277167C>T | CA349077791 | SCN1A-AS1,SCN9A | c.2690G>A (p.Cys897Tyr) c.2657G>A (p.Cys886Tyr) c.347G>A (p.Cys116Tyr) c.1692G>A n.949C>T c.2303G>A (p.Cys768Tyr) c.1946G>A (p.Cys649Tyr) n.3004G>A | COSMIC COSMIC |
2 | g.166277168A>C | CA349077792 | SCN1A-AS1,SCN9A | c.2689T>G (p.Cys897Gly) c.2656T>G (p.Cys886Gly) c.346T>G (p.Cys116Gly) c.1691T>G n.950A>C c.2302T>G (p.Cys768Gly) c.1945T>G (p.Cys649Gly) n.3003T>G | |
2 | g.166277168A>G | CA349077793 | SCN1A-AS1,SCN9A | c.2689T>C (p.Cys897Arg) c.2656T>C (p.Cys886Arg) c.346T>C (p.Cys116Arg) c.1691T>C n.950A>G c.2302T>C (p.Cys768Arg) c.1945T>C (p.Cys649Arg) n.3003T>C | |
2 | g.166277168A>T | CA349077794 | SCN1A-AS1,SCN9A | c.2689T>A (p.Cys897Ser) c.2656T>A (p.Cys886Ser) c.346T>A (p.Cys116Ser) c.1691T>A n.950A>T c.2302T>A (p.Cys768Ser) c.1945T>A (p.Cys649Ser) n.3003T>A | |
2 | g.166277169G>A | CA429978314 | SCN1A-AS1,SCN9A | c.2688C>T (p.Val896=) c.2655C>T (p.Val885=) c.345C>T (p.Val115=) c.1690C>T n.951G>A c.2301C>T (p.Val767=) c.1944C>T (p.Val648=) n.3002C>T | |
2 | g.166277169G>C | CA429978316 | SCN1A-AS1,SCN9A | c.2688C>G (p.Val896=) c.2655C>G (p.Val885=) c.345C>G (p.Val115=) c.1690C>G n.951G>C c.2301C>G (p.Val767=) c.1944C>G (p.Val648=) n.3002C>G | |
2 | g.166277169G>T | CA429978317 | SCN1A-AS1,SCN9A | c.2688C>A (p.Val896=) c.2655C>A (p.Val885=) c.345C>A (p.Val115=) c.1690C>A n.951G>T c.2301C>A (p.Val767=) c.1944C>A (p.Val648=) n.3002C>A | |
2 | g.166277170A>C | CA349077795 | SCN1A-AS1,SCN9A | c.2687T>G (p.Val896Gly) c.2654T>G (p.Val885Gly) c.344T>G (p.Val115Gly) c.1689T>G n.952A>C c.2300T>G (p.Val767Gly) c.1943T>G (p.Val648Gly) n.3001T>G | |
2 | g.166277170A>G | CA349077797 | SCN1A-AS1,SCN9A | c.2687T>C (p.Val896Ala) c.2654T>C (p.Val885Ala) c.344T>C (p.Val115Ala) c.1689T>C n.952A>G c.2300T>C (p.Val767Ala) c.1943T>C (p.Val648Ala) n.3001T>C | |
2 | g.166277170A>T | CA349077796 | SCN1A-AS1,SCN9A | c.2687T>A (p.Val896Asp) c.2654T>A (p.Val885Asp) c.344T>A (p.Val115Asp) c.1689T>A n.952A>T c.2300T>A (p.Val767Asp) c.1943T>A (p.Val648Asp) n.3001T>A | |
2 | g.166277171C>A | CA349077798 | SCN1A-AS1,SCN9A | c.2686G>T (p.Val896Phe) c.2653G>T (p.Val885Phe) c.343G>T (p.Val115Phe) c.1688G>T n.953C>A c.2299G>T (p.Val767Phe) c.1942G>T (p.Val648Phe) n.3000G>T | |
2 | g.166277171C= | CA1304965064 | SCN1A-AS1,SCN9A | c.2686G= (p.Val896=) c.2653G= (p.Val885=) c.343G= (p.Val115=) c.1688G= n.953C= c.2299G= (p.Val767=) c.1942G= (p.Val648=) n.3000G= | |
2 | g.166277171C>G | CA349077799 | SCN1A-AS1,SCN9A | c.2686G>C (p.Val896Leu) c.2653G>C (p.Val885Leu) c.343G>C (p.Val115Leu) c.1688G>C n.953C>G c.2299G>C (p.Val767Leu) c.1942G>C (p.Val648Leu) n.3000G>C | dbSNP gnomAD v2 |
2 | g.166277171C>T | CA349077800 | SCN1A-AS1,SCN9A | c.2686G>A (p.Val896Ile) c.2653G>A (p.Val885Ile) c.343G>A (p.Val115Ile) c.1688G>A n.953C>T c.2299G>A (p.Val767Ile) c.1942G>A (p.Val648Ile) n.3000G>A | dbSNP |
2 | g.166277172A= | CA1304965068 | SCN1A-AS1,SCN9A | c.2685T= (p.Cys895=) c.2652T= (p.Cys884=) c.342T= (p.Cys114=) c.1687T= n.954A= c.2298T= (p.Cys766=) c.1941T= (p.Cys647=) n.2999T= | |
2 | g.166277172A>C | CA349077801 | SCN1A-AS1,SCN9A | c.2685T>G (p.Cys895Trp) c.2652T>G (p.Cys884Trp) c.342T>G (p.Cys114Trp) c.1687T>G n.954A>C c.2298T>G (p.Cys766Trp) c.1941T>G (p.Cys647Trp) n.2999T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277172A>G | CA429978320 | SCN1A-AS1,SCN9A | c.2685T>C (p.Cys895=) c.2652T>C (p.Cys884=) c.342T>C (p.Cys114=) c.1687T>C n.954A>G c.2298T>C (p.Cys766=) c.1941T>C (p.Cys647=) n.2999T>C | |
2 | g.166277172A>T | CA349077802 | SCN1A-AS1,SCN9A | c.2685T>A (p.Cys895Ter) c.2652T>A (p.Cys884Ter) c.342T>A (p.Cys114Ter) c.1687T>A n.954A>T c.2298T>A (p.Cys766Ter) c.1941T>A (p.Cys647Ter) n.2999T>A | |
2 | g.166277173C>A | CA349077803 | SCN1A-AS1,SCN9A | c.2684G>T (p.Cys895Phe) c.2651G>T (p.Cys884Phe) c.341G>T (p.Cys114Phe) c.1686G>T n.955C>A c.2297G>T (p.Cys766Phe) c.1940G>T (p.Cys647Phe) n.2998G>T | |
2 | g.166277173C>G | CA349077804 | SCN1A-AS1,SCN9A | c.2684G>C (p.Cys895Ser) c.2651G>C (p.Cys884Ser) c.341G>C (p.Cys114Ser) c.1686G>C n.955C>G c.2297G>C (p.Cys766Ser) c.1940G>C (p.Cys647Ser) n.2998G>C | |
2 | g.166277173C>T | CA349077805 | SCN1A-AS1,SCN9A | c.2684G>A (p.Cys895Tyr) c.2651G>A (p.Cys884Tyr) c.341G>A (p.Cys114Tyr) c.1686G>A n.955C>T c.2297G>A (p.Cys766Tyr) c.1940G>A (p.Cys647Tyr) n.2998G>A | ClinVar |
2 | g.166277174A= | CA1304965074 | SCN1A-AS1,SCN9A | c.2683T= (p.Cys895=) c.2650T= (p.Cys884=) c.340T= (p.Cys114=) c.1685T= n.956A= c.2296T= (p.Cys766=) c.1939T= (p.Cys647=) n.2997T= | |
2 | g.166277174A>C | CA349077806 | SCN1A-AS1,SCN9A | c.2683T>G (p.Cys895Gly) c.2650T>G (p.Cys884Gly) c.340T>G (p.Cys114Gly) c.1685T>G n.956A>C c.2296T>G (p.Cys766Gly) c.1939T>G (p.Cys647Gly) n.2997T>G | gnomAD v4 |
2 | g.166277174A>G | CA1944219 | SCN1A-AS1,SCN9A | c.2683T>C (p.Cys895Arg) c.2650T>C (p.Cys884Arg) c.340T>C (p.Cys114Arg) c.1685T>C n.956A>G c.2296T>C (p.Cys766Arg) c.1939T>C (p.Cys647Arg) n.2997T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277174A>T | CA349077807 | SCN1A-AS1,SCN9A | c.2683T>A (p.Cys895Ser) c.2650T>A (p.Cys884Ser) c.340T>A (p.Cys114Ser) c.1685T>A n.956A>T c.2296T>A (p.Cys766Ser) c.1939T>A (p.Cys647Ser) n.2997T>A | |
2 | g.166277175T>A | CA349077808 | SCN1A-AS1,SCN9A | c.2682A>T (p.Glu894Asp) c.2649A>T (p.Glu883Asp) c.339A>T (p.Glu113Asp) c.1684A>T n.957T>A c.2295A>T (p.Glu765Asp) c.1938A>T (p.Glu646Asp) n.2996A>T | |
2 | g.166277175T>C | CA429978325 | SCN1A-AS1,SCN9A | c.2682A>G (p.Glu894=) c.2649A>G (p.Glu883=) c.339A>G (p.Glu113=) c.1684A>G n.957T>C c.2295A>G (p.Glu765=) c.1938A>G (p.Glu646=) n.2996A>G | |
2 | g.166277175T>G | CA349077809 | SCN1A-AS1,SCN9A | c.2682A>C (p.Glu894Asp) c.2649A>C (p.Glu883Asp) c.339A>C (p.Glu113Asp) c.1684A>C n.957T>G c.2295A>C (p.Glu765Asp) c.1938A>C (p.Glu646Asp) n.2996A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277175T= | CA1304965078 | SCN1A-AS1,SCN9A | c.2682A= (p.Glu894=) c.2649A= (p.Glu883=) c.339A= (p.Glu113=) c.1684A= n.957T= c.2295A= (p.Glu765=) c.1938A= (p.Glu646=) n.2996A= | |
2 | g.166277176T>A | CA349077810 | SCN1A-AS1,SCN9A | c.2681A>T (p.Glu894Val) c.2648A>T (p.Glu883Val) c.338A>T (p.Glu113Val) c.1683A>T n.958T>A c.2294A>T (p.Glu765Val) c.1937A>T (p.Glu646Val) n.2995A>T | ClinVar gnomAD v4 |
2 | g.166277176T>C | CA349077812 | SCN1A-AS1,SCN9A | c.2681A>G (p.Glu894Gly) c.2648A>G (p.Glu883Gly) c.338A>G (p.Glu113Gly) c.1683A>G n.958T>C c.2294A>G (p.Glu765Gly) c.1937A>G (p.Glu646Gly) n.2995A>G | |
2 | g.166277176T>G | CA349077811 | SCN1A-AS1,SCN9A | c.2681A>C (p.Glu894Ala) c.2648A>C (p.Glu883Ala) c.338A>C (p.Glu113Ala) c.1683A>C n.958T>G c.2294A>C (p.Glu765Ala) c.1937A>C (p.Glu646Ala) n.2995A>C | |
2 | g.166277177C>A | CA349077813 | SCN1A-AS1,SCN9A | c.2680G>T (p.Glu894Ter) c.2647G>T (p.Glu883Ter) c.337G>T (p.Glu113Ter) c.1682G>T n.959C>A c.2293G>T (p.Glu765Ter) c.1936G>T (p.Glu646Ter) n.2994G>T | |
2 | g.166277177C>G | CA349077814 | SCN1A-AS1,SCN9A | c.2680G>C (p.Glu894Gln) c.2647G>C (p.Glu883Gln) c.337G>C (p.Glu113Gln) c.1682G>C n.959C>G c.2293G>C (p.Glu765Gln) c.1936G>C (p.Glu646Gln) n.2994G>C | |
2 | g.166277177C>T | CA349077815 | SCN1A-AS1,SCN9A | c.2680G>A (p.Glu894Lys) c.2647G>A (p.Glu883Lys) c.337G>A (p.Glu113Lys) c.1682G>A n.959C>T c.2293G>A (p.Glu765Lys) c.1936G>A (p.Glu646Lys) n.2994G>A | |
2 | g.166277178T>A | CA349077816 | SCN1A-AS1,SCN9A | c.2679A>T (p.Lys893Asn) c.2646A>T (p.Lys882Asn) c.336A>T (p.Lys112Asn) c.1681A>T n.960T>A c.2292A>T (p.Lys764Asn) c.1935A>T (p.Lys645Asn) n.2993A>T | |
2 | g.166277178T>C | CA429978327 | SCN1A-AS1,SCN9A | c.2679A>G (p.Lys893=) c.2646A>G (p.Lys882=) c.336A>G (p.Lys112=) c.1681A>G n.960T>C c.2292A>G (p.Lys764=) c.1935A>G (p.Lys645=) n.2993A>G | gnomAD v4 |
2 | g.166277178T>G | CA349077817 | SCN1A-AS1,SCN9A | c.2679A>C (p.Lys893Asn) c.2646A>C (p.Lys882Asn) c.336A>C (p.Lys112Asn) c.1681A>C n.960T>G c.2292A>C (p.Lys764Asn) c.1935A>C (p.Lys645Asn) n.2993A>C | |
2 | g.166277179T>A | CA349077818 | SCN1A-AS1,SCN9A | c.2678A>T (p.Lys893Ile) c.2645A>T (p.Lys882Ile) c.335A>T (p.Lys112Ile) c.1680A>T n.961T>A c.2291A>T (p.Lys764Ile) c.1934A>T (p.Lys645Ile) n.2992A>T | |
2 | g.166277179T>C | CA59794652 | SCN1A-AS1,SCN9A | c.2678A>G (p.Lys893Arg) c.2645A>G (p.Lys882Arg) c.335A>G (p.Lys112Arg) c.1680A>G n.961T>C c.2291A>G (p.Lys764Arg) c.1934A>G (p.Lys645Arg) n.2992A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277179T>G | CA349077819 | SCN1A-AS1,SCN9A | c.2678A>C (p.Lys893Thr) c.2645A>C (p.Lys882Thr) c.335A>C (p.Lys112Thr) c.1680A>C n.961T>G c.2291A>C (p.Lys764Thr) c.1934A>C (p.Lys645Thr) n.2992A>C | |
2 | g.166277179T= | CA1304965086 | SCN1A-AS1,SCN9A | c.2678A= (p.Lys893=) c.2645A= (p.Lys882=) c.335A= (p.Lys112=) c.1680A= n.961T= c.2291A= (p.Lys764=) c.1934A= (p.Lys645=) n.2992A= | |
2 | g.166277180T>A | CA349077820 | SCN1A-AS1,SCN9A | c.2677A>T (p.Lys893Ter) c.2644A>T (p.Lys882Ter) c.334A>T (p.Lys112Ter) c.1679A>T n.962T>A c.2290A>T (p.Lys764Ter) c.1933A>T (p.Lys645Ter) n.2991A>T | |
2 | g.166277180T>C | CA349077821 | SCN1A-AS1,SCN9A | c.2677A>G (p.Lys893Glu) c.2644A>G (p.Lys882Glu) c.334A>G (p.Lys112Glu) c.1679A>G n.962T>C c.2290A>G (p.Lys764Glu) c.1933A>G (p.Lys645Glu) n.2991A>G | |
2 | g.166277180T>G | CA349077822 | SCN1A-AS1,SCN9A | c.2677A>C (p.Lys893Gln) c.2644A>C (p.Lys882Gln) c.334A>C (p.Lys112Gln) c.1679A>C n.962T>G c.2290A>C (p.Lys764Gln) c.1933A>C (p.Lys645Gln) n.2991A>C | |
2 | g.166277181G>A | CA59794658 | SCN1A-AS1,SCN9A | c.2676C>T (p.Tyr892=) c.2643C>T (p.Tyr881=) c.333C>T (p.Tyr111=) c.1678C>T n.963G>A c.2289C>T (p.Tyr763=) c.1932C>T (p.Tyr644=) n.2990C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277181G>C | CA349077823 | SCN1A-AS1,SCN9A | c.2676C>G (p.Tyr892Ter) c.2643C>G (p.Tyr881Ter) c.333C>G (p.Tyr111Ter) c.1678C>G n.963G>C c.2289C>G (p.Tyr763Ter) c.1932C>G (p.Tyr644Ter) n.2990C>G | |
2 | g.166277181G= | CA1304965094 | SCN1A-AS1,SCN9A | c.2676C= (p.Tyr892=) c.2643C= (p.Tyr881=) c.333C= (p.Tyr111=) c.1678C= n.963G= c.2289C= (p.Tyr763=) c.1932C= (p.Tyr644=) n.2990C= | |
2 | g.166277181G>T | CA349077824 | SCN1A-AS1,SCN9A | c.2676C>A (p.Tyr892Ter) c.2643C>A (p.Tyr881Ter) c.333C>A (p.Tyr111Ter) c.1678C>A n.963G>T c.2289C>A (p.Tyr763Ter) c.1932C>A (p.Tyr644Ter) n.2990C>A | |
2 | g.166277182T>A | CA349077825 | SCN1A-AS1,SCN9A | c.2675A>T (p.Tyr892Phe) c.2642A>T (p.Tyr881Phe) c.332A>T (p.Tyr111Phe) c.1677A>T n.964T>A c.2288A>T (p.Tyr763Phe) c.1931A>T (p.Tyr644Phe) n.2989A>T | |
2 | g.166277182T>C | CA349077826 | SCN1A-AS1,SCN9A | c.2675A>G (p.Tyr892Cys) c.2642A>G (p.Tyr881Cys) c.332A>G (p.Tyr111Cys) c.1677A>G n.964T>C c.2288A>G (p.Tyr763Cys) c.1931A>G (p.Tyr644Cys) n.2989A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277182T>G | CA349077827 | SCN1A-AS1,SCN9A | c.2675A>C (p.Tyr892Ser) c.2642A>C (p.Tyr881Ser) c.332A>C (p.Tyr111Ser) c.1677A>C n.964T>G c.2288A>C (p.Tyr763Ser) c.1931A>C (p.Tyr644Ser) n.2989A>C | |
2 | g.166277182T= | CA1304965103 | SCN1A-AS1,SCN9A | c.2675A= (p.Tyr892=) c.2642A= (p.Tyr881=) c.332A= (p.Tyr111=) c.1677A= n.964T= c.2288A= (p.Tyr763=) c.1931A= (p.Tyr644=) n.2989A= | |
2 | g.166277183A>C | CA349077828 | SCN1A-AS1,SCN9A | c.2674T>G (p.Tyr892Asp) c.2641T>G (p.Tyr881Asp) c.331T>G (p.Tyr111Asp) c.1676T>G n.965A>C c.2287T>G (p.Tyr763Asp) c.1930T>G (p.Tyr644Asp) n.2988T>G | |
2 | g.166277183A>G | CA349077829 | SCN1A-AS1,SCN9A | c.2674T>C (p.Tyr892His) c.2641T>C (p.Tyr881His) c.331T>C (p.Tyr111His) c.1676T>C n.965A>G c.2287T>C (p.Tyr763His) c.1930T>C (p.Tyr644His) n.2988T>C | |
2 | g.166277183A>T | CA349077830 | SCN1A-AS1,SCN9A | c.2674T>A (p.Tyr892Asn) c.2641T>A (p.Tyr881Asn) c.331T>A (p.Tyr111Asn) c.1676T>A n.965A>T c.2287T>A (p.Tyr763Asn) c.1930T>A (p.Tyr644Asn) n.2988T>A | |
2 | g.166277184G>A | CA429978334 | SCN1A-AS1,SCN9A | c.2673C>T (p.Ser891=) c.2640C>T (p.Ser880=) c.330C>T (p.Ser110=) c.1675C>T n.966G>A c.2286C>T (p.Ser762=) c.1929C>T (p.Ser643=) n.2987C>T | |
2 | g.166277184G>C | CA349077831 | SCN1A-AS1,SCN9A | c.2673C>G (p.Ser891Arg) c.2640C>G (p.Ser880Arg) c.330C>G (p.Ser110Arg) c.1675C>G n.966G>C c.2286C>G (p.Ser762Arg) c.1929C>G (p.Ser643Arg) n.2987C>G | |
2 | g.166277184G>T | CA349077832 | SCN1A-AS1,SCN9A | c.2673C>A (p.Ser891Arg) c.2640C>A (p.Ser880Arg) c.330C>A (p.Ser110Arg) c.1675C>A n.966G>T c.2286C>A (p.Ser762Arg) c.1929C>A (p.Ser643Arg) n.2987C>A | |
2 | g.166277185C>A | CA349077833 | SCN1A-AS1,SCN9A | c.2672G>T (p.Ser891Ile) c.2639G>T (p.Ser880Ile) c.329G>T (p.Ser110Ile) c.1674G>T n.967C>A c.2285G>T (p.Ser762Ile) c.1928G>T (p.Ser643Ile) n.2986G>T | |
2 | g.166277185C>G | CA349077834 | SCN1A-AS1,SCN9A | c.2672G>C (p.Ser891Thr) c.2639G>C (p.Ser880Thr) c.329G>C (p.Ser110Thr) c.1674G>C n.967C>G c.2285G>C (p.Ser762Thr) c.1928G>C (p.Ser643Thr) n.2986G>C | |
2 | g.166277185C>T | CA349077835 | SCN1A-AS1,SCN9A | c.2672G>A (p.Ser891Asn) c.2639G>A (p.Ser880Asn) c.329G>A (p.Ser110Asn) c.1674G>A n.967C>T c.2285G>A (p.Ser762Asn) c.1928G>A (p.Ser643Asn) n.2986G>A | |
2 | g.166277186T>A | CA349077836 | SCN1A-AS1,SCN9A | c.2671A>T (p.Ser891Cys) c.2638A>T (p.Ser880Cys) c.328A>T (p.Ser110Cys) c.1673A>T n.968T>A c.2284A>T (p.Ser762Cys) c.1927A>T (p.Ser643Cys) n.2985A>T | |
2 | g.166277186T>C | CA1944220 | SCN1A-AS1,SCN9A | c.2671A>G (p.Ser891Gly) c.2638A>G (p.Ser880Gly) c.328A>G (p.Ser110Gly) c.1673A>G n.968T>C c.2284A>G (p.Ser762Gly) c.1927A>G (p.Ser643Gly) n.2985A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277186T>G | CA349077837 | SCN1A-AS1,SCN9A | c.2671A>C (p.Ser891Arg) c.2638A>C (p.Ser880Arg) c.328A>C (p.Ser110Arg) c.1673A>C n.968T>G c.2284A>C (p.Ser762Arg) c.1927A>C (p.Ser643Arg) n.2985A>C | |
2 | g.166277186T= | CA1304965108 | SCN1A-AS1,SCN9A | c.2671A= (p.Ser891=) c.2638A= (p.Ser880=) c.328A= (p.Ser110=) c.1673A= n.968T= c.2284A= (p.Ser762=) c.1927A= (p.Ser643=) n.2985A= | |
2 | g.166277187C>A | CA349077839 | SCN1A-AS1,SCN9A | c.2670G>T (p.Lys890Asn) c.2637G>T (p.Lys879Asn) c.327G>T (p.Lys109Asn) c.1672G>T n.969C>A c.2283G>T (p.Lys761Asn) c.1926G>T (p.Lys642Asn) n.2984G>T | |
2 | g.166277187C>G | CA349077838 | SCN1A-AS1,SCN9A | c.2670G>C (p.Lys890Asn) c.2637G>C (p.Lys879Asn) c.327G>C (p.Lys109Asn) c.1672G>C n.969C>G c.2283G>C (p.Lys761Asn) c.1926G>C (p.Lys642Asn) n.2984G>C | |
2 | g.166277187C>T | CA429978338 | SCN1A-AS1,SCN9A | c.2670G>A (p.Lys890=) c.2637G>A (p.Lys879=) c.327G>A (p.Lys109=) c.1672G>A n.969C>T c.2283G>A (p.Lys761=) c.1926G>A (p.Lys642=) n.2984G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.166277188T>A | CA349077840 | SCN1A-AS1,SCN9A | c.2669A>T (p.Lys890Met) c.2636A>T (p.Lys879Met) c.326A>T (p.Lys109Met) c.1671A>T n.970T>A c.2282A>T (p.Lys761Met) c.1925A>T (p.Lys642Met) n.2983A>T | |
2 | g.166277188T>C | CA349077841 | SCN1A-AS1,SCN9A | c.2669A>G (p.Lys890Arg) c.2636A>G (p.Lys879Arg) c.326A>G (p.Lys109Arg) c.1671A>G n.970T>C c.2282A>G (p.Lys761Arg) c.1925A>G (p.Lys642Arg) n.2983A>G | |
2 | g.166277188T>G | CA349077842 | SCN1A-AS1,SCN9A | c.2669A>C (p.Lys890Thr) c.2636A>C (p.Lys879Thr) c.326A>C (p.Lys109Thr) c.1671A>C n.970T>G c.2282A>C (p.Lys761Thr) c.1925A>C (p.Lys642Thr) n.2983A>C | |
2 | g.166277189T>A | CA349077843 | SCN1A-AS1,SCN9A | c.2668A>T (p.Lys890Ter) c.2635A>T (p.Lys879Ter) c.325A>T (p.Lys109Ter) c.1670A>T n.971T>A c.2281A>T (p.Lys761Ter) c.1924A>T (p.Lys642Ter) n.2982A>T | |
2 | g.166277189T>C | CA349077844 | SCN1A-AS1,SCN9A | c.2668A>G (p.Lys890Glu) c.2635A>G (p.Lys879Glu) c.325A>G (p.Lys109Glu) c.1670A>G n.971T>C c.2281A>G (p.Lys761Glu) c.1924A>G (p.Lys642Glu) n.2982A>G | |
2 | g.166277189T>G | CA349077845 | SCN1A-AS1,SCN9A | c.2668A>C (p.Lys890Gln) c.2635A>C (p.Lys879Gln) c.325A>C (p.Lys109Gln) c.1670A>C n.971T>G c.2281A>C (p.Lys761Gln) c.1924A>C (p.Lys642Gln) n.2982A>C | |
2 | g.166277190A>C | CA429978340 | SCN1A-AS1,SCN9A | c.2667T>G (p.Gly889=) c.2634T>G (p.Gly878=) c.324T>G (p.Gly108=) c.1669T>G n.972A>C c.2280T>G (p.Gly760=) c.1923T>G (p.Gly641=) n.2981T>G | |
2 | g.166277190A>G | CA429978341 | SCN1A-AS1,SCN9A | c.2667T>C (p.Gly889=) c.2634T>C (p.Gly878=) c.324T>C (p.Gly108=) c.1669T>C n.972A>G c.2280T>C (p.Gly760=) c.1923T>C (p.Gly641=) n.2981T>C | gnomAD v4 |
2 | g.166277190A>T | CA429978342 | SCN1A-AS1,SCN9A | c.2667T>A (p.Gly889=) c.2634T>A (p.Gly878=) c.324T>A (p.Gly108=) c.1669T>A n.972A>T c.2280T>A (p.Gly760=) c.1923T>A (p.Gly641=) n.2981T>A | |
2 | g.166277190dup | CA2499215221 | SCN1A-AS1,SCN9A | c.2667dup (p.Lys890Ter) c.2634dup (p.Lys879Ter) c.324dup (p.Lys109Ter) c.1669dup n.972dup c.2280dup (p.Lys761Ter) c.1923dup (p.Lys642Ter) n.2981dup | ClinVar dbSNP |
2 | g.166277191_166277194del | CA2753031906 | SCN1A-AS1,SCN9A | c.2664_2667del (p.Phe888LeufsTer22) c.2631_2634del (p.Phe877LeufsTer22) c.321_324del (p.Phe107LeufsTer22) c.1666_1669del n.973_976del c.2277_2280del (p.Phe759LeufsTer22) c.1920_1923del (p.Phe640LeufsTer22) n.2978_2981del | |
2 | g.166277191C>A | CA1944221 | SCN1A-AS1,SCN9A | c.2666G>T (p.Gly889Val) c.2633G>T (p.Gly878Val) c.323G>T (p.Gly108Val) c.1668G>T n.973C>A c.2279G>T (p.Gly760Val) c.1922G>T (p.Gly641Val) n.2980G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277191C= | CA1304965114 | SCN1A-AS1,SCN9A | c.2666G= (p.Gly889=) c.2633G= (p.Gly878=) c.323G= (p.Gly108=) c.1668G= n.973C= c.2279G= (p.Gly760=) c.1922G= (p.Gly641=) n.2980G= | |
2 | g.166277191C>G | CA349077846 | SCN1A-AS1,SCN9A | c.2666G>C (p.Gly889Ala) c.2633G>C (p.Gly878Ala) c.323G>C (p.Gly108Ala) c.1668G>C n.973C>G c.2279G>C (p.Gly760Ala) c.1922G>C (p.Gly641Ala) n.2980G>C | gnomAD v4 |
2 | g.166277191C>T | CA349077847 | SCN1A-AS1,SCN9A | c.2666G>A (p.Gly889Asp) c.2633G>A (p.Gly878Asp) c.323G>A (p.Gly108Asp) c.1668G>A n.973C>T c.2279G>A (p.Gly760Asp) c.1922G>A (p.Gly641Asp) n.2980G>A | |
2 | g.166277192C>A | CA349077848 | SCN1A-AS1,SCN9A | c.2665G>T (p.Gly889Cys) c.2632G>T (p.Gly878Cys) c.322G>T (p.Gly108Cys) c.1667G>T n.974C>A c.2278G>T (p.Gly760Cys) c.1921G>T (p.Gly641Cys) n.2979G>T | |
2 | g.166277192C>G | CA349077849 | SCN1A-AS1,SCN9A | c.2665G>C (p.Gly889Arg) c.2632G>C (p.Gly878Arg) c.322G>C (p.Gly108Arg) c.1667G>C n.974C>G c.2278G>C (p.Gly760Arg) c.1921G>C (p.Gly641Arg) n.2979G>C | gnomAD v4 |
2 | g.166277192C>T | CA349077850 | SCN1A-AS1,SCN9A | c.2665G>A (p.Gly889Ser) c.2632G>A (p.Gly878Ser) c.322G>A (p.Gly108Ser) c.1667G>A n.974C>T c.2278G>A (p.Gly760Ser) c.1921G>A (p.Gly641Ser) n.2979G>A | |
2 | g.166277193A= | CA1304965122 | SCN1A-AS1,SCN9A | c.2664T= (p.Phe888=) c.2631T= (p.Phe877=) c.321T= (p.Phe107=) c.1666T= n.975A= c.2277T= (p.Phe759=) c.1920T= (p.Phe640=) n.2978T= | |
2 | g.166277193A>C | CA349077851 | SCN1A-AS1,SCN9A | c.2664T>G (p.Phe888Leu) c.2631T>G (p.Phe877Leu) c.321T>G (p.Phe107Leu) c.1666T>G n.975A>C c.2277T>G (p.Phe759Leu) c.1920T>G (p.Phe640Leu) n.2978T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277193A>G | CA429978345 | SCN1A-AS1,SCN9A | c.2664T>C (p.Phe888=) c.2631T>C (p.Phe877=) c.321T>C (p.Phe107=) c.1666T>C n.975A>G c.2277T>C (p.Phe759=) c.1920T>C (p.Phe640=) n.2978T>C | |
2 | g.166277193A>T | CA349077852 | SCN1A-AS1,SCN9A | c.2664T>A (p.Phe888Leu) c.2631T>A (p.Phe877Leu) c.321T>A (p.Phe107Leu) c.1666T>A n.975A>T c.2277T>A (p.Phe759Leu) c.1920T>A (p.Phe640Leu) n.2978T>A | |
2 | g.166277193_166277194insTGGT | CA2753031907 | SCN1A-AS1,SCN9A | c.2663_2664insACCA (p.Phe888LeufsTer4) c.2630_2631insACCA (p.Phe877LeufsTer4) c.320_321insACCA (p.Phe107LeufsTer4) c.1665_1666insACCA n.975_976insTGGT c.2276_2277insACCA (p.Phe759LeufsTer4) c.1919_1920insACCA (p.Phe640LeufsTer4) n.2977_2978insACCA | |
2 | g.166277194A>C | CA349077853 | SCN1A-AS1,SCN9A | c.2663T>G (p.Phe888Cys) c.2630T>G (p.Phe877Cys) c.320T>G (p.Phe107Cys) c.1665T>G n.976A>C c.2276T>G (p.Phe759Cys) c.1919T>G (p.Phe640Cys) n.2977T>G | |
2 | g.166277194A>G | CA349077855 | SCN1A-AS1,SCN9A | c.2663T>C (p.Phe888Ser) c.2630T>C (p.Phe877Ser) c.320T>C (p.Phe107Ser) c.1665T>C n.976A>G c.2276T>C (p.Phe759Ser) c.1919T>C (p.Phe640Ser) n.2977T>C | |
2 | g.166277194A>T | CA349077854 | SCN1A-AS1,SCN9A | c.2663T>A (p.Phe888Tyr) c.2630T>A (p.Phe877Tyr) c.320T>A (p.Phe107Tyr) c.1665T>A n.976A>T c.2276T>A (p.Phe759Tyr) c.1919T>A (p.Phe640Tyr) n.2977T>A | |
2 | g.166277195A>C | CA349077856 | SCN1A-AS1,SCN9A | c.2662T>G (p.Phe888Val) c.2629T>G (p.Phe877Val) c.319T>G (p.Phe107Val) c.1664T>G n.977A>C c.2275T>G (p.Phe759Val) c.1918T>G (p.Phe640Val) n.2976T>G | |
2 | g.166277195A>G | CA349077857 | SCN1A-AS1,SCN9A | c.2662T>C (p.Phe888Leu) c.2629T>C (p.Phe877Leu) c.319T>C (p.Phe107Leu) c.1664T>C n.977A>G c.2275T>C (p.Phe759Leu) c.1918T>C (p.Phe640Leu) n.2976T>C | |
2 | g.166277195A>T | CA349077858 | SCN1A-AS1,SCN9A | c.2662T>A (p.Phe888Ile) c.2629T>A (p.Phe877Ile) c.319T>A (p.Phe107Ile) c.1664T>A n.977A>T c.2275T>A (p.Phe759Ile) c.1918T>A (p.Phe640Ile) n.2976T>A | |
2 | g.166277196G>A | CA429978350 | SCN1A-AS1,SCN9A | c.2661C>T (p.Leu887=) c.2628C>T (p.Leu876=) c.318C>T (p.Leu106=) c.1663C>T n.978G>A c.2274C>T (p.Leu758=) c.1917C>T (p.Leu639=) n.2975C>T | |
2 | g.166277196G>C | CA429978351 | SCN1A-AS1,SCN9A | c.2661C>G (p.Leu887=) c.2628C>G (p.Leu876=) c.318C>G (p.Leu106=) c.1663C>G n.978G>C c.2274C>G (p.Leu758=) c.1917C>G (p.Leu639=) n.2975C>G | ClinVar gnomAD v4 |
2 | g.166277196G>T | CA429978352 | SCN1A-AS1,SCN9A | c.2661C>A (p.Leu887=) c.2628C>A (p.Leu876=) c.318C>A (p.Leu106=) c.1663C>A n.978G>T c.2274C>A (p.Leu758=) c.1917C>A (p.Leu639=) n.2975C>A | |
2 | g.166277197A>C | CA349077859 | SCN1A-AS1,SCN9A | c.2660T>G (p.Leu887Arg) c.2627T>G (p.Leu876Arg) c.317T>G (p.Leu106Arg) c.1662T>G n.979A>C c.2273T>G (p.Leu758Arg) c.1916T>G (p.Leu639Arg) n.2974T>G | |
2 | g.166277197A>G | CA349077860 | SCN1A-AS1,SCN9A | c.2660T>C (p.Leu887Pro) c.2627T>C (p.Leu876Pro) c.317T>C (p.Leu106Pro) c.1662T>C n.979A>G c.2273T>C (p.Leu758Pro) c.1916T>C (p.Leu639Pro) n.2974T>C | |
2 | g.166277197A>T | CA349077861 | SCN1A-AS1,SCN9A | c.2660T>A (p.Leu887His) c.2627T>A (p.Leu876His) c.317T>A (p.Leu106His) c.1662T>A n.979A>T c.2273T>A (p.Leu758His) c.1916T>A (p.Leu639His) n.2974T>A | |
2 | g.166277198G>A | CA59794669 | SCN1A-AS1,SCN9A | c.2659C>T (p.Leu887Phe) c.2626C>T (p.Leu876Phe) c.316C>T (p.Leu106Phe) c.1661C>T n.980G>A c.2272C>T (p.Leu758Phe) c.1915C>T (p.Leu639Phe) n.2973C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277198G>C | CA349077862 | SCN1A-AS1,SCN9A | c.2659C>G (p.Leu887Val) c.2626C>G (p.Leu876Val) c.316C>G (p.Leu106Val) c.1661C>G n.980G>C c.2272C>G (p.Leu758Val) c.1915C>G (p.Leu639Val) n.2973C>G | |
2 | g.166277198G= | CA1304965129 | SCN1A-AS1,SCN9A | c.2659C= (p.Leu887=) c.2626C= (p.Leu876=) c.316C= (p.Leu106=) c.1661C= n.980G= c.2272C= (p.Leu758=) c.1915C= (p.Leu639=) n.2973C= | |
2 | g.166277198G>T | CA349077863 | SCN1A-AS1,SCN9A | c.2659C>A (p.Leu887Ile) c.2626C>A (p.Leu876Ile) c.316C>A (p.Leu106Ile) c.1661C>A n.980G>T c.2272C>A (p.Leu758Ile) c.1915C>A (p.Leu639Ile) n.2973C>A |