Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166277088C>ACA429978109SCN1A-AS1,SCN9Ac.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
2g.166277088C>GCA429978112SCN1A-AS1,SCN9Ac.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
2g.166277088C>TCA429978111SCN1A-AS1,SCN9Ac.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
2g.166277089A>CCA349077502SCN1A-AS1,SCN9Ac.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
2g.166277089A>GCA349077506SCN1A-AS1,SCN9Ac.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
2g.166277089A>TCA349077504SCN1A-AS1,SCN9Ac.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
2g.166277090C>ACA349077508SCN1A-AS1,SCN9Ac.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
2g.166277090C=CA1304964833SCN1A-AS1,SCN9Ac.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=
2g.166277090C>GCA349077509SCN1A-AS1,SCN9Ac.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
2g.166277090C>TCA1944206SCN1A-AS1,SCN9Ac.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
2g.166277091G>ACA1944207SCN1A-AS1,SCN9Ac.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
2g.166277091G>CCA429978116SCN1A-AS1,SCN9Ac.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
2g.166277091G=CA1304964839SCN1A-AS1,SCN9Ac.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=
2g.166277091G>TCA429978117SCN1A-AS1,SCN9Ac.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
2g.166277092C>ACA349077514SCN1A-AS1,SCN9Ac.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
2g.166277092C=CA1304964848SCN1A-AS1,SCN9Ac.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=
2g.166277092C>GCA349077516SCN1A-AS1,SCN9Ac.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
2g.166277092C>TCA349077518SCN1A-AS1,SCN9Ac.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
2g.166277093G>ACA1944208SCN1A-AS1,SCN9Ac.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
2g.166277093G>CCA349077519SCN1A-AS1,SCN9Ac.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
2g.166277093G=CA1304964860SCN1A-AS1,SCN9Ac.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=
2g.166277093G>TCA349077521SCN1A-AS1,SCN9Ac.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
2g.166277094G>ACA429978122SCN1A-AS1,SCN9Ac.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
2g.166277094G>CCA349077524SCN1A-AS1,SCN9Ac.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
2g.166277094G>TCA349077525SCN1A-AS1,SCN9Ac.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
2g.166277095A>CCA349077528SCN1A-AS1,SCN9Ac.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
2g.166277095A>GCA349077530SCN1A-AS1,SCN9Ac.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
2g.166277095A>TCA349077531SCN1A-AS1,SCN9Ac.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
2g.166277096A>CCA349077532SCN1A-AS1,SCN9Ac.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
2g.166277096A>GCA349077534SCN1A-AS1,SCN9Ac.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
2g.166277096A>TCA349077536SCN1A-AS1,SCN9Ac.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
2g.166277097C>ACA429978128SCN1A-AS1,SCN9Ac.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
2g.166277097C=CA1304964869SCN1A-AS1,SCN9Ac.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=
2g.166277097C>GCA429978130SCN1A-AS1,SCN9Ac.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
2g.166277097C>TCA1944209SCN1A-AS1,SCN9Ac.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
2g.166277098A>CCA349077539SCN1A-AS1,SCN9Ac.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
2g.166277098A>GCA349077541SCN1A-AS1,SCN9Ac.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
2g.166277098A>TCA349077542SCN1A-AS1,SCN9Ac.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
2g.166277099C>ACA349077544SCN1A-AS1,SCN9Ac.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
2g.166277099C>GCA349077546SCN1A-AS1,SCN9Ac.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
2g.166277099C>TCA349077548SCN1A-AS1,SCN9Ac.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
2g.166277100A=CA1304964878SCN1A-AS1,SCN9Ac.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=
2g.166277100A>CCA349077551SCN1A-AS1,SCN9Ac.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
2g.166277100A>GCA429978135SCN1A-AS1,SCN9Ac.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
2g.166277100A>TCA429978134SCN1A-AS1,SCN9Ac.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
2g.166277101A=CA1304964885SCN1A-AS1,SCN9Ac.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=
2g.166277101A>CCA349077553SCN1A-AS1,SCN9Ac.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
2g.166277101A>GCA349077555SCN1A-AS1,SCN9Ac.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
2g.166277101A>TCA349077557SCN1A-AS1,SCN9Ac.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
2g.166277102_166277104delCA2573133704SCN1A-AS1,SCN9Ac.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
2g.166277102T>ACA349077559SCN1A-AS1,SCN9Ac.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
2g.166277102T>CCA349077561SCN1A-AS1,SCN9Ac.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
2g.166277102T>GCA349077563SCN1A-AS1,SCN9Ac.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
2g.166277103C>ACA429978140SCN1A-AS1,SCN9Ac.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
2g.166277103C>GCA429978143SCN1A-AS1,SCN9Ac.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
2g.166277103C>TCA429978145SCN1A-AS1,SCN9Ac.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
2g.166277104A>CCA349077564SCN1A-AS1,SCN9Ac.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
2g.166277104A>GCA349077565SCN1A-AS1,SCN9Ac.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
2g.166277104A>TCA349077567SCN1A-AS1,SCN9Ac.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
2g.166277105G>ACA429978148SCN1A-AS1,SCN9Ac.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
2g.166277105G>CCA349077568SCN1A-AS1,SCN9Ac.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
2g.166277105G>TCA349077570SCN1A-AS1,SCN9Ac.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
2g.166277106G>ACA429978152SCN1A-AS1,SCN9Ac.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
2g.166277106G>CCA349077572SCN1A-AS1,SCN9Ac.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
2g.166277106G>TCA349077573SCN1A-AS1,SCN9Ac.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
2g.166277107A>CCA349077578SCN1A-AS1,SCN9Ac.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
2g.166277107A>GCA349077580SCN1A-AS1,SCN9Ac.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
2g.166277107A>TCA349077576SCN1A-AS1,SCN9Ac.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
2g.166277108A>CCA349077586SCN1A-AS1,SCN9Ac.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
2g.166277108A>GCA349077583SCN1A-AS1,SCN9Ac.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
2g.166277108A>TCA349077585SCN1A-AS1,SCN9Ac.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
2g.166277109G>ACA1944210SCN1A-AS1,SCN9Ac.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
2g.166277109G>CCA429978159SCN1A-AS1,SCN9Ac.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
2g.166277109G=CA1304964890SCN1A-AS1,SCN9Ac.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=
2g.166277109G>TCA429978158SCN1A-AS1,SCN9Ac.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
2g.166277110G>ACA349077595SCN1A-AS1,SCN9Ac.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
2g.166277110G>CCA349077597SCN1A-AS1,SCN9Ac.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
2g.166277110G>TCA349077598SCN1A-AS1,SCN9Ac.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
2g.166277111A>CCA349077602SCN1A-AS1,SCN9Ac.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
2g.166277111A>GCA349077600SCN1A-AS1,SCN9Ac.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
2g.166277111A>TCA349077601SCN1A-AS1,SCN9Ac.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
2g.166277112G>ACA429978161SCN1A-AS1,SCN9Ac.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
2g.166277112G>CCA349077604SCN1A-AS1,SCN9Ac.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
2g.166277112G>TCA349077605SCN1A-AS1,SCN9Ac.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
2g.166277113_166277115dupCA2661767150SCN1A-AS1,SCN9Ac.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
2g.166277112_166277128delinsGTGGAAGAAGTCGTTCACA1304964897SCN1A-AS1,SCN9Ac.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
2g.166277113T>ACA349077606SCN1A-AS1,SCN9Ac.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
2g.166277113T>CCA349077608SCN1A-AS1,SCN9Ac.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
2g.166277113T>GCA349077610SCN1A-AS1,SCN9Ac.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
2g.166277115_166277130delCA1304964901SCN1A-AS1,SCN9Ac.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
2g.166277114G>ACA349077616SCN1A-AS1,SCN9Ac.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
2g.166277114G>CCA349077612SCN1A-AS1,SCN9Ac.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
2g.166277114G>TCA349077614SCN1A-AS1,SCN9Ac.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
2g.166277115G>ACA429978166SCN1A-AS1,SCN9Ac.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
2g.166277115G>CCA349077618SCN1A-AS1,SCN9Ac.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
2g.166277115G>TCA349077620SCN1A-AS1,SCN9Ac.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
2g.166277116A>CCA349077622SCN1A-AS1,SCN9Ac.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
2g.166277116A>GCA349077623SCN1A-AS1,SCN9Ac.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
2g.166277116A>TCA349077624SCN1A-AS1,SCN9Ac.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
2g.166277117A>CCA349077627SCN1A-AS1,SCN9Ac.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
2g.166277117A>GCA349077629SCN1A-AS1,SCN9Ac.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
2g.166277117A>TCA349077630SCN1A-AS1,SCN9Ac.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
2g.166277118G>ACA429978167SCN1A-AS1,SCN9Ac.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
2g.166277118G>CCA349077633SCN1A-AS1,SCN9Ac.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
2g.166277118G>TCA349077635SCN1A-AS1,SCN9Ac.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
2g.166277119A=CA1304964903SCN1A-AS1,SCN9Ac.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=
2g.166277119A>CCA349077636SCN1A-AS1,SCN9Ac.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
2g.166277119A>GCA349077638SCN1A-AS1,SCN9Ac.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
2g.166277119A>TCA349077640SCN1A-AS1,SCN9Ac.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
2g.166277120A>CCA349077642SCN1A-AS1,SCN9Ac.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
2g.166277120A>GCA349077646SCN1A-AS1,SCN9Ac.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
2g.166277120A>TCA349077644SCN1A-AS1,SCN9Ac.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
2g.166277121G>ACA429978169SCN1A-AS1,SCN9Ac.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
2g.166277121G>CCA349077648SCN1A-AS1,SCN9Ac.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
2g.166277121G>TCA349077650SCN1A-AS1,SCN9Ac.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
2g.166277122T>ACA349077652SCN1A-AS1,SCN9Ac.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
2g.166277122T>CCA349077654SCN1A-AS1,SCN9Ac.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
2g.166277122T>GCA349077656SCN1A-AS1,SCN9Ac.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
2g.166277123C>ACA349077658SCN1A-AS1,SCN9Ac.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
2g.166277123C>GCA349077660SCN1A-AS1,SCN9Ac.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
2g.166277123C>TCA349077661SCN1A-AS1,SCN9Ac.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
2g.166277124G>ACA1944211SCN1A-AS1,SCN9Ac.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
2g.166277124G>CCA349077665SCN1A-AS1,SCN9Ac.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
2g.166277124G=CA1304964911SCN1A-AS1,SCN9Ac.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=
2g.166277124G>TCA349077666SCN1A-AS1,SCN9Ac.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
2g.166277125T>ACA349077672SCN1A-AS1,SCN9Ac.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
2g.166277125T>CCA349077670SCN1A-AS1,SCN9Ac.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
2g.166277125T>GCA349077668SCN1A-AS1,SCN9Ac.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
2g.166277125T=CA1304964920SCN1A-AS1,SCN9Ac.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=
2g.166277126T>ACA349077674SCN1A-AS1,SCN9Ac.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
2g.166277126T>CCA349077676SCN1A-AS1,SCN9Ac.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
2g.166277126T>GCA349077677SCN1A-AS1,SCN9Ac.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
2g.166277127C>ACA349077680SCN1A-AS1,SCN9Ac.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
2g.166277127C=CA1304964926SCN1A-AS1,SCN9Ac.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=
2g.166277127C>GCA349077682SCN1A-AS1,SCN9Ac.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
2g.166277127C>TCA1944212SCN1A-AS1,SCN9Ac.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
2g.166277128A>CCA349077684SCN1A-AS1,SCN9Ac.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
2g.166277128A>GCA349077685SCN1A-AS1,SCN9Ac.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
2g.166277128A>TCA349077687SCN1A-AS1,SCN9Ac.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
2g.166277129T>ACA349077689SCN1A-AS1,SCN9Ac.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
2g.166277129T>CCA349077690SCN1A-AS1,SCN9Ac.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
2g.166277129T>GCA349077692SCN1A-AS1,SCN9Ac.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
2g.166277130G>ACA1944213SCN1A-AS1,SCN9Ac.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
2g.166277130G>CCA349077697SCN1A-AS1,SCN9Ac.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
2g.166277130G=CA1304964930SCN1A-AS1,SCN9Ac.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=
2g.166277130G>TCA349077694SCN1A-AS1,SCN9Ac.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
2g.166277131T>ACA349077699SCN1A-AS1,SCN9Ac.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
2g.166277131T>CCA349077702SCN1A-AS1,SCN9Ac.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
2g.166277131T>GCA349077700SCN1A-AS1,SCN9Ac.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
2g.166277132G>ACA349077705SCN1A-AS1,SCN9Ac.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
2g.166277132G>CCA349077706SCN1A-AS1,SCN9Ac.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
2g.166277132G>TCA349077708SCN1A-AS1,SCN9Ac.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
2g.166277133C>ACA349077711SCN1A-AS1,SCN9Ac.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
2g.166277133C=CA1304964942SCN1A-AS1,SCN9Ac.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=
2g.166277133C>GCA349077712SCN1A-AS1,SCN9Ac.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
2g.166277133C>TCA118137SCN1A-AS1,SCN9Ac.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
2g.166277134C>ACA349077716SCN1A-AS1,SCN9Ac.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
2g.166277134C=CA1304964952SCN1A-AS1,SCN9Ac.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=
2g.166277134C>GCA349077717SCN1A-AS1,SCN9Ac.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
2g.166277134C>TCA203854SCN1A-AS1,SCN9Ac.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
2g.166277135A>CCA349077718SCN1A-AS1,SCN9Ac.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
2g.166277135A>GCA349077719SCN1A-AS1,SCN9Ac.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
2g.166277135A>TCA349077720SCN1A-AS1,SCN9Ac.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
2g.166277136C>ACA429978261SCN1A-AS1,SCN9Ac.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
2g.166277136C=CA1304964958SCN1A-AS1,SCN9Ac.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=
2g.166277136C>GCA429978262SCN1A-AS1,SCN9Ac.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
2g.166277136C>TCA429978263SCN1A-AS1,SCN9Ac.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
2g.166277137C>ACA349077722SCN1A-AS1,SCN9Ac.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
2g.166277137C=CA1304964965SCN1A-AS1,SCN9Ac.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=
2g.166277137C>GCA349077721SCN1A-AS1,SCN9Ac.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
2g.166277137C>TCA59794605SCN1A-AS1,SCN9Ac.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
2g.166277138G>ACA1944214SCN1A-AS1,SCN9Ac.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
2g.166277138G>CCA349077723SCN1A-AS1,SCN9Ac.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
2g.166277138G=CA1304964971SCN1A-AS1,SCN9Ac.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=
2g.166277138G>TCA429978270SCN1A-AS1,SCN9Ac.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
2g.166277139T>ACA429978272SCN1A-AS1,SCN9Ac.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
2g.166277139T>CCA429978274SCN1A-AS1,SCN9Ac.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
2g.166277139T>GCA429978275SCN1A-AS1,SCN9Ac.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
2g.166277140G>ACA349077724SCN1A-AS1,SCN9Ac.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
2g.166277140G>CCA349077725SCN1A-AS1,SCN9Ac.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
2g.166277140G>TCA349077726SCN1A-AS1,SCN9Ac.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
2g.166277141G>ACA349077727SCN1A-AS1,SCN9Ac.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
2g.166277141G>CCA349077728SCN1A-AS1,SCN9Ac.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
2g.166277141G=CA1304964979SCN1A-AS1,SCN9Ac.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=
2g.166277141G>TCA349077729SCN1A-AS1,SCN9Ac.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
2g.166277142G>ACA429978276SCN1A-AS1,SCN9Ac.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
2g.166277142G>CCA429978279SCN1A-AS1,SCN9Ac.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
2g.166277142G>TCA429978278SCN1A-AS1,SCN9Ac.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
2g.166277143A=CA1304964982SCN1A-AS1,SCN9Ac.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=
2g.166277143A>CCA349077730SCN1A-AS1,SCN9Ac.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
2g.166277143A>GCA349077731SCN1A-AS1,SCN9Ac.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
2g.166277143A>TCA349077732SCN1A-AS1,SCN9Ac.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
2g.166277144G>ACA349077735SCN1A-AS1,SCN9Ac.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
2g.166277144G>CCA349077734SCN1A-AS1,SCN9Ac.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
2g.166277144G>TCA349077733SCN1A-AS1,SCN9Ac.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
2g.166277145C>ACA429978281SCN1A-AS1,SCN9Ac.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
2g.166277145C=CA1304964986SCN1A-AS1,SCN9Ac.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=
2g.166277145C>GCA1944216SCN1A-AS1,SCN9Ac.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
2g.166277145C>TCA1944215SCN1A-AS1,SCN9Ac.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
2g.166277146G>ACA1944217SCN1A-AS1,SCN9Ac.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
2g.166277146G>CCA349077736SCN1A-AS1,SCN9Ac.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
2g.166277146G=CA1304964995SCN1A-AS1,SCN9Ac.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=
2g.166277146G>TCA349077737SCN1A-AS1,SCN9Ac.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
2g.166277147T>ACA349077738SCN1A-AS1,SCN9Ac.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
2g.166277147T>CCA349077739SCN1A-AS1,SCN9Ac.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
2g.166277147T>GCA349077740SCN1A-AS1,SCN9Ac.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
2g.166277147_166277148delinsTACA1304965007SCN1A-AS1,SCN9Ac.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
2g.166277148delCA1139657336SCN1A-AS1,SCN9Ac.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
2g.166277148A>CCA349077741SCN1A-AS1,SCN9Ac.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
2g.166277148A>GCA429978288SCN1A-AS1,SCN9Ac.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
2g.166277148A>TCA349077742SCN1A-AS1,SCN9Ac.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
2g.166277149C>ACA349077743SCN1A-AS1,SCN9Ac.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
2g.166277149C>GCA349077744SCN1A-AS1,SCN9Ac.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
2g.166277149C>TCA349077745SCN1A-AS1,SCN9Ac.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
2g.166277150A=CA1304965015SCN1A-AS1,SCN9Ac.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=
2g.166277150A>CCA349077748SCN1A-AS1,SCN9Ac.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
2g.166277150A>GCA349077746SCN1A-AS1,SCN9Ac.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
2g.166277150A>TCA349077747SCN1A-AS1,SCN9Ac.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
2g.166277151G>ACA429978291SCN1A-AS1,SCN9Ac.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
2g.166277151G>CCA349077749SCN1A-AS1,SCN9Ac.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
2g.166277151G>TCA349077750SCN1A-AS1,SCN9Ac.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
2g.166277152T>ACA349077751SCN1A-AS1,SCN9Ac.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
2g.166277152T>CCA349077752SCN1A-AS1,SCN9Ac.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
2g.166277152T>GCA349077753SCN1A-AS1,SCN9Ac.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
2g.166277156_166277158delCA2661767151SCN1A-AS1,SCN9Ac.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
2g.166277153C>ACA349077754SCN1A-AS1,SCN9Ac.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
2g.166277153C=CA1304965022SCN1A-AS1,SCN9Ac.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=
2g.166277153C>GCA349077755SCN1A-AS1,SCN9Ac.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
2g.166277153C>TCA349077756SCN1A-AS1,SCN9Ac.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
2g.166277154A>CCA349077757SCN1A-AS1,SCN9Ac.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
2g.166277154A>GCA429978297SCN1A-AS1,SCN9Ac.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
2g.166277154A>TCA349077758SCN1A-AS1,SCN9Ac.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
2g.166277155T>ACA349077759SCN1A-AS1,SCN9Ac.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
2g.166277155T>CCA349077760SCN1A-AS1,SCN9Ac.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
2g.166277155T>GCA349077761SCN1A-AS1,SCN9Ac.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
2g.166277156C>ACA349077763SCN1A-AS1,SCN9Ac.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
2g.166277156C=CA1304965025SCN1A-AS1,SCN9Ac.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=
2g.166277156C>GCA349077764SCN1A-AS1,SCN9Ac.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
2g.166277156C>TCA349077762SCN1A-AS1,SCN9Ac.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
2g.166277157A=CA1304965031SCN1A-AS1,SCN9Ac.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=
2g.166277157A>CCA349077765SCN1A-AS1,SCN9Ac.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
2g.166277157A>GCA1944218SCN1A-AS1,SCN9Ac.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
2g.166277157A>TCA349077766SCN1A-AS1,SCN9Ac.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
2g.166277158T>ACA349077767SCN1A-AS1,SCN9Ac.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
2g.166277158T>CCA349077768SCN1A-AS1,SCN9Ac.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
2g.166277158T>GCA349077769SCN1A-AS1,SCN9Ac.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
2g.166277158T=CA1304965034SCN1A-AS1,SCN9Ac.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=
2g.166277159T>ACA349077770SCN1A-AS1,SCN9Ac.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
2g.166277159T>CCA349077771SCN1A-AS1,SCN9Ac.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
2g.166277159T>GCA349077772SCN1A-AS1,SCN9Ac.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
2g.166277159T=CA1304965042SCN1A-AS1,SCN9Ac.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=
2g.166277160G>ACA429978304SCN1A-AS1,SCN9Ac.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
2g.166277160G>CCA349077773SCN1A-AS1,SCN9Ac.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
2g.166277160G>TCA429978307SCN1A-AS1,SCN9Ac.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
2g.166277161A>CCA349077776SCN1A-AS1,SCN9Ac.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
2g.166277161A>GCA349077774SCN1A-AS1,SCN9Ac.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
2g.166277161A>TCA349077775SCN1A-AS1,SCN9Ac.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
2g.166277162T>ACA59794630SCN1A-AS1,SCN9Ac.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
2g.166277162T>CCA349077777SCN1A-AS1,SCN9Ac.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
2g.166277162T>GCA349077778SCN1A-AS1,SCN9Ac.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
2g.166277162T=CA1304965052SCN1A-AS1,SCN9Ac.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=
2g.166277163C>ACA349077779SCN1A-AS1,SCN9Ac.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
2g.166277163C>GCA349077780SCN1A-AS1,SCN9Ac.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
2g.166277163C>TCA429978310SCN1A-AS1,SCN9Ac.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
2g.166277164T>ACA349077781SCN1A-AS1,SCN9Ac.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
2g.166277164T>CCA349077783SCN1A-AS1,SCN9Ac.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
2g.166277164T>GCA349077782SCN1A-AS1,SCN9Ac.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
2g.166277165T>ACA349077784SCN1A-AS1,SCN9Ac.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
2g.166277165T>CCA349077785SCN1A-AS1,SCN9Ac.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
2g.166277165T>GCA349077786SCN1A-AS1,SCN9Ac.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
2g.166277166G>ACA16610178SCN1A-AS1,SCN9Ac.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
2g.166277166G>CCA349077787SCN1A-AS1,SCN9Ac.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
2g.166277166G=CA1304965057SCN1A-AS1,SCN9Ac.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=
2g.166277166G>TCA349077788SCN1A-AS1,SCN9Ac.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
2g.166277167C>ACA349077789SCN1A-AS1,SCN9Ac.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
2g.166277167C>GCA349077790SCN1A-AS1,SCN9Ac.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
2g.166277167C>TCA349077791SCN1A-AS1,SCN9Ac.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
2g.166277168A>CCA349077792SCN1A-AS1,SCN9Ac.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
2g.166277168A>GCA349077793SCN1A-AS1,SCN9Ac.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
2g.166277168A>TCA349077794SCN1A-AS1,SCN9Ac.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
2g.166277169G>ACA429978314SCN1A-AS1,SCN9Ac.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
2g.166277169G>CCA429978316SCN1A-AS1,SCN9Ac.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
2g.166277169G>TCA429978317SCN1A-AS1,SCN9Ac.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
2g.166277170A>CCA349077795SCN1A-AS1,SCN9Ac.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
2g.166277170A>GCA349077797SCN1A-AS1,SCN9Ac.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
2g.166277170A>TCA349077796SCN1A-AS1,SCN9Ac.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
2g.166277171C>ACA349077798SCN1A-AS1,SCN9Ac.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
2g.166277171C=CA1304965064SCN1A-AS1,SCN9Ac.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=
2g.166277171C>GCA349077799SCN1A-AS1,SCN9Ac.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
2g.166277171C>TCA349077800SCN1A-AS1,SCN9Ac.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
2g.166277172A=CA1304965068SCN1A-AS1,SCN9Ac.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=
2g.166277172A>CCA349077801SCN1A-AS1,SCN9Ac.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
2g.166277172A>GCA429978320SCN1A-AS1,SCN9Ac.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
2g.166277172A>TCA349077802SCN1A-AS1,SCN9Ac.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
2g.166277173C>ACA349077803SCN1A-AS1,SCN9Ac.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
2g.166277173C>GCA349077804SCN1A-AS1,SCN9Ac.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
2g.166277173C>TCA349077805SCN1A-AS1,SCN9Ac.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
2g.166277174A=CA1304965074SCN1A-AS1,SCN9Ac.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=
2g.166277174A>CCA349077806SCN1A-AS1,SCN9Ac.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
2g.166277174A>GCA1944219SCN1A-AS1,SCN9Ac.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
2g.166277174A>TCA349077807SCN1A-AS1,SCN9Ac.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
2g.166277175T>ACA349077808SCN1A-AS1,SCN9Ac.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
2g.166277175T>CCA429978325SCN1A-AS1,SCN9Ac.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
2g.166277175T>GCA349077809SCN1A-AS1,SCN9Ac.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
2g.166277175T=CA1304965078SCN1A-AS1,SCN9Ac.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=
2g.166277176T>ACA349077810SCN1A-AS1,SCN9Ac.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
2g.166277176T>CCA349077812SCN1A-AS1,SCN9Ac.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
2g.166277176T>GCA349077811SCN1A-AS1,SCN9Ac.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
2g.166277177C>ACA349077813SCN1A-AS1,SCN9Ac.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
2g.166277177C>GCA349077814SCN1A-AS1,SCN9Ac.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
2g.166277177C>TCA349077815SCN1A-AS1,SCN9Ac.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
2g.166277178T>ACA349077816SCN1A-AS1,SCN9Ac.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
2g.166277178T>CCA429978327SCN1A-AS1,SCN9Ac.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
2g.166277178T>GCA349077817SCN1A-AS1,SCN9Ac.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
2g.166277179T>ACA349077818SCN1A-AS1,SCN9Ac.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
2g.166277179T>CCA59794652SCN1A-AS1,SCN9Ac.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
2g.166277179T>GCA349077819SCN1A-AS1,SCN9Ac.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
2g.166277179T=CA1304965086SCN1A-AS1,SCN9Ac.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=
2g.166277180T>ACA349077820SCN1A-AS1,SCN9Ac.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
2g.166277180T>CCA349077821SCN1A-AS1,SCN9Ac.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
2g.166277180T>GCA349077822SCN1A-AS1,SCN9Ac.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
2g.166277181G>ACA59794658SCN1A-AS1,SCN9Ac.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
2g.166277181G>CCA349077823SCN1A-AS1,SCN9Ac.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
2g.166277181G=CA1304965094SCN1A-AS1,SCN9Ac.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=
2g.166277181G>TCA349077824SCN1A-AS1,SCN9Ac.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
2g.166277182T>ACA349077825SCN1A-AS1,SCN9Ac.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
2g.166277182T>CCA349077826SCN1A-AS1,SCN9Ac.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
2g.166277182T>GCA349077827SCN1A-AS1,SCN9Ac.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
2g.166277182T=CA1304965103SCN1A-AS1,SCN9Ac.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=
2g.166277183A>CCA349077828SCN1A-AS1,SCN9Ac.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
2g.166277183A>GCA349077829SCN1A-AS1,SCN9Ac.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
2g.166277183A>TCA349077830SCN1A-AS1,SCN9Ac.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
2g.166277184G>ACA429978334SCN1A-AS1,SCN9Ac.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
2g.166277184G>CCA349077831SCN1A-AS1,SCN9Ac.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
2g.166277184G>TCA349077832SCN1A-AS1,SCN9Ac.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
2g.166277185C>ACA349077833SCN1A-AS1,SCN9Ac.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
2g.166277185C>GCA349077834SCN1A-AS1,SCN9Ac.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
2g.166277185C>TCA349077835SCN1A-AS1,SCN9Ac.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
2g.166277186T>ACA349077836SCN1A-AS1,SCN9Ac.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
2g.166277186T>CCA1944220SCN1A-AS1,SCN9Ac.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
2g.166277186T>GCA349077837SCN1A-AS1,SCN9Ac.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
2g.166277186T=CA1304965108SCN1A-AS1,SCN9Ac.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=
2g.166277187C>ACA349077839SCN1A-AS1,SCN9Ac.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
2g.166277187C>GCA349077838SCN1A-AS1,SCN9Ac.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
2g.166277187C>TCA429978338SCN1A-AS1,SCN9Ac.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
2g.166277188T>ACA349077840SCN1A-AS1,SCN9Ac.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
2g.166277188T>CCA349077841SCN1A-AS1,SCN9Ac.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
2g.166277188T>GCA349077842SCN1A-AS1,SCN9Ac.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

Number of alleles fetched