Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166272581C>ACA349073432SCN1A-AS1,SCN9Ac.3169G>T (p.Asp1057Tyr)
c.169G>T (p.Asp57Tyr)
c.3136G>T (p.Asp1046Tyr)
c.1877-83G>T
n.870-4507C>A
c.2782G>T (p.Asp928Tyr)
c.2425G>T (p.Asp809Tyr)
2g.166272581C=CA1304962760SCN1A-AS1,SCN9Ac.3169G= (p.Asp1057=)
c.169G= (p.Asp57=)
c.3136G= (p.Asp1046=)
c.1877-83G=
n.870-4507C=
c.2782G= (p.Asp928=)
c.2425G= (p.Asp809=)
2g.166272581C>GCA349073439SCN1A-AS1,SCN9Ac.3169G>C (p.Asp1057His)
c.169G>C (p.Asp57His)
c.3136G>C (p.Asp1046His)
c.1877-83G>C
n.870-4507C>G
c.2782G>C (p.Asp928His)
c.2425G>C (p.Asp809His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272581C>TCA59791366SCN1A-AS1,SCN9Ac.3169G>A (p.Asp1057Asn)
c.169G>A (p.Asp57Asn)
c.3136G>A (p.Asp1046Asn)
c.1877-83G>A
n.870-4507C>T
c.2782G>A (p.Asp928Asn)
c.2425G>A (p.Asp809Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272582T>ACA59791368SCN1A-AS1,SCN9Ac.3168A>T (p.Lys1056Asn)
c.168A>T (p.Lys56Asn)
c.3135A>T (p.Lys1045Asn)
c.1877-84A>T
n.870-4506T>A
c.2781A>T (p.Lys927Asn)
c.2424A>T (p.Lys808Asn)
 dbSNP gnomAD v4
2g.166272582T>CCA1944129SCN1A-AS1,SCN9Ac.3168A>G (p.Lys1056=)
c.168A>G (p.Lys56=)
c.3135A>G (p.Lys1045=)
c.1877-84A>G
n.870-4506T>C
c.2781A>G (p.Lys927=)
c.2424A>G (p.Lys808=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272582T>GCA349073443SCN1A-AS1,SCN9Ac.3168A>C (p.Lys1056Asn)
c.168A>C (p.Lys56Asn)
c.3135A>C (p.Lys1045Asn)
c.1877-84A>C
n.870-4506T>G
c.2781A>C (p.Lys927Asn)
c.2424A>C (p.Lys808Asn)
2g.166272582T=CA1304962761SCN1A-AS1,SCN9Ac.3168A= (p.Lys1056=)
c.168A= (p.Lys56=)
c.3135A= (p.Lys1045=)
c.1877-84A=
n.870-4506T=
c.2781A= (p.Lys927=)
c.2424A= (p.Lys808=)
2g.166272586delCA645519732SCN1A-AS1,SCN9Ac.3168del (p.Asp1057IlefsTer14)
c.168del (p.Asp57IlefsTer14)
c.3135del (p.Asp1046IlefsTer14)
c.1877-84del
n.870-4502del
c.2781del (p.Asp928IlefsTer14)
c.2424del (p.Asp809IlefsTer14)
 COSMIC COSMIC
2g.166272583T>ACA349073449SCN1A-AS1,SCN9Ac.3167A>T (p.Lys1056Ile)
c.167A>T (p.Lys56Ile)
c.3134A>T (p.Lys1045Ile)
c.1877-85A>T
n.870-4505T>A
c.2780A>T (p.Lys927Ile)
c.2423A>T (p.Lys808Ile)
2g.166272583T>CCA1944130SCN1A-AS1,SCN9Ac.3167A>G (p.Lys1056Arg)
c.167A>G (p.Lys56Arg)
c.3134A>G (p.Lys1045Arg)
c.1877-85A>G
n.870-4505T>C
c.2780A>G (p.Lys927Arg)
c.2423A>G (p.Lys808Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272583T>GCA349073452SCN1A-AS1,SCN9Ac.3167A>C (p.Lys1056Thr)
c.167A>C (p.Lys56Thr)
c.3134A>C (p.Lys1045Thr)
c.1877-85A>C
n.870-4505T>G
c.2780A>C (p.Lys927Thr)
c.2423A>C (p.Lys808Thr)
2g.166272583T=CA1304962762SCN1A-AS1,SCN9Ac.3167A= (p.Lys1056=)
c.167A= (p.Lys56=)
c.3134A= (p.Lys1045=)
c.1877-85A=
n.870-4505T=
c.2780A= (p.Lys927=)
c.2423A= (p.Lys808=)
2g.166272584T>ACA349073457SCN1A-AS1,SCN9Ac.3166A>T (p.Lys1056Ter)
c.166A>T (p.Lys56Ter)
c.3133A>T (p.Lys1045Ter)
c.1877-86A>T
n.870-4504T>A
c.2779A>T (p.Lys927Ter)
c.2422A>T (p.Lys808Ter)
 dbSNP COSMIC COSMIC
2g.166272584T>CCA349073459SCN1A-AS1,SCN9Ac.3166A>G (p.Lys1056Glu)
c.166A>G (p.Lys56Glu)
c.3133A>G (p.Lys1045Glu)
c.1877-86A>G
n.870-4504T>C
c.2779A>G (p.Lys927Glu)
c.2422A>G (p.Lys808Glu)
2g.166272584T>GCA349073461SCN1A-AS1,SCN9Ac.3166A>C (p.Lys1056Gln)
c.166A>C (p.Lys56Gln)
c.3133A>C (p.Lys1045Gln)
c.1877-86A>C
n.870-4504T>G
c.2779A>C (p.Lys927Gln)
c.2422A>C (p.Lys808Gln)
2g.166272584T=CA1304962763SCN1A-AS1,SCN9Ac.3166A= (p.Lys1056=)
c.166A= (p.Lys56=)
c.3133A= (p.Lys1045=)
c.1877-86A=
n.870-4504T=
c.2779A= (p.Lys927=)
c.2422A= (p.Lys808=)
2g.166272585T>ACA349073463SCN1A-AS1,SCN9Ac.3165A>T (p.Glu1055Asp)
c.165A>T (p.Glu55Asp)
c.3132A>T (p.Glu1044Asp)
c.1877-87A>T
n.870-4503T>A
c.2778A>T (p.Glu926Asp)
c.2421A>T (p.Glu807Asp)
2g.166272585T>CCA59791372SCN1A-AS1,SCN9Ac.3165A>G (p.Glu1055=)
c.165A>G (p.Glu55=)
c.3132A>G (p.Glu1044=)
c.1877-87A>G
n.870-4503T>C
c.2778A>G (p.Glu926=)
c.2421A>G (p.Glu807=)
 dbSNP gnomAD v4
2g.166272585T>GCA349073466SCN1A-AS1,SCN9Ac.3165A>C (p.Glu1055Asp)
c.165A>C (p.Glu55Asp)
c.3132A>C (p.Glu1044Asp)
c.1877-87A>C
n.870-4503T>G
c.2778A>C (p.Glu926Asp)
c.2421A>C (p.Glu807Asp)
 ClinVar
2g.166272585T=CA1304962764SCN1A-AS1,SCN9Ac.3165A= (p.Glu1055=)
c.165A= (p.Glu55=)
c.3132A= (p.Glu1044=)
c.1877-87A=
n.870-4503T=
c.2778A= (p.Glu926=)
c.2421A= (p.Glu807=)
2g.166272586T>ACA349073467SCN1A-AS1,SCN9Ac.3164A>T (p.Glu1055Val)
c.164A>T (p.Glu55Val)
c.3131A>T (p.Glu1044Val)
c.1877-88A>T
n.870-4502T>A
c.2777A>T (p.Glu926Val)
c.2420A>T (p.Glu807Val)
2g.166272586T>CCA349073468SCN1A-AS1,SCN9Ac.3164A>G (p.Glu1055Gly)
c.164A>G (p.Glu55Gly)
c.3131A>G (p.Glu1044Gly)
c.1877-88A>G
n.870-4502T>C
c.2777A>G (p.Glu926Gly)
c.2420A>G (p.Glu807Gly)
 gnomAD v4
2g.166272586T>GCA349073470SCN1A-AS1,SCN9Ac.3164A>C (p.Glu1055Ala)
c.164A>C (p.Glu55Ala)
c.3131A>C (p.Glu1044Ala)
c.1877-88A>C
n.870-4502T>G
c.2777A>C (p.Glu926Ala)
c.2420A>C (p.Glu807Ala)
 gnomAD v4
2g.166272587C>ACA349073472SCN1A-AS1,SCN9Ac.3163G>T (p.Glu1055Ter)
c.163G>T (p.Glu55Ter)
c.3130G>T (p.Glu1044Ter)
c.1877-89G>T
n.870-4501C>A
c.2776G>T (p.Glu926Ter)
c.2419G>T (p.Glu807Ter)
 dbSNP
2g.166272587C=CA1304962765SCN1A-AS1,SCN9Ac.3163G= (p.Glu1055=)
c.163G= (p.Glu55=)
c.3130G= (p.Glu1044=)
c.1877-89G=
n.870-4501C=
c.2776G= (p.Glu926=)
c.2419G= (p.Glu807=)
2g.166272587C>GCA349073474SCN1A-AS1,SCN9Ac.3163G>C (p.Glu1055Gln)
c.163G>C (p.Glu55Gln)
c.3130G>C (p.Glu1044Gln)
c.1877-89G>C
n.870-4501C>G
c.2776G>C (p.Glu926Gln)
c.2419G>C (p.Glu807Gln)
2g.166272587C>TCA349073483SCN1A-AS1,SCN9Ac.3163G>A (p.Glu1055Lys)
c.163G>A (p.Glu55Lys)
c.3130G>A (p.Glu1044Lys)
c.1877-89G>A
n.870-4501C>T
c.2776G>A (p.Glu926Lys)
c.2419G>A (p.Glu807Lys)
 ClinVar dbSNP COSMIC COSMIC
2g.166272588C>ACA349073488SCN1A-AS1,SCN9Ac.3162G>T (p.Lys1054Asn)
c.162G>T (p.Lys54Asn)
c.3129G>T (p.Lys1043Asn)
c.1877-90G>T
n.870-4500C>A
c.2775G>T (p.Lys925Asn)
c.2418G>T (p.Lys806Asn)
2g.166272588C=CA1304962766SCN1A-AS1,SCN9Ac.3162G= (p.Lys1054=)
c.162G= (p.Lys54=)
c.3129G= (p.Lys1043=)
c.1877-90G=
n.870-4500C=
c.2775G= (p.Lys925=)
c.2418G= (p.Lys806=)
2g.166272588C>GCA59791394SCN1A-AS1,SCN9Ac.3162G>C (p.Lys1054Asn)
c.162G>C (p.Lys54Asn)
c.3129G>C (p.Lys1043Asn)
c.1877-90G>C
n.870-4500C>G
c.2775G>C (p.Lys925Asn)
c.2418G>C (p.Lys806Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272588C>TCA429978065SCN1A-AS1,SCN9Ac.3162G>A (p.Lys1054=)
c.162G>A (p.Lys54=)
c.3129G>A (p.Lys1043=)
c.1877-90G>A
n.870-4500C>T
c.2775G>A (p.Lys925=)
c.2418G>A (p.Lys806=)
 dbSNP COSMIC COSMIC
2g.166272589T>ACA349073493SCN1A-AS1,SCN9Ac.3161A>T (p.Lys1054Met)
c.161A>T (p.Lys54Met)
c.3128A>T (p.Lys1043Met)
c.1877-91A>T
n.870-4499T>A
c.2774A>T (p.Lys925Met)
c.2417A>T (p.Lys806Met)
2g.166272589T>CCA349073502SCN1A-AS1,SCN9Ac.3161A>G (p.Lys1054Arg)
c.161A>G (p.Lys54Arg)
c.3128A>G (p.Lys1043Arg)
c.1877-91A>G
n.870-4499T>C
c.2774A>G (p.Lys925Arg)
c.2417A>G (p.Lys806Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.166272589T>GCA349073503SCN1A-AS1,SCN9Ac.3161A>C (p.Lys1054Thr)
c.161A>C (p.Lys54Thr)
c.3128A>C (p.Lys1043Thr)
c.1877-91A>C
n.870-4499T>G
c.2774A>C (p.Lys925Thr)
c.2417A>C (p.Lys806Thr)
2g.166272589T=CA1304962767SCN1A-AS1,SCN9Ac.3161A= (p.Lys1054=)
c.161A= (p.Lys54=)
c.3128A= (p.Lys1043=)
c.1877-91A=
n.870-4499T=
c.2774A= (p.Lys925=)
c.2417A= (p.Lys806=)
2g.166272590T>ACA349073504SCN1A-AS1,SCN9Ac.3160A>T (p.Lys1054Ter)
c.160A>T (p.Lys54Ter)
c.3127A>T (p.Lys1043Ter)
c.1877-92A>T
n.870-4498T>A
c.2773A>T (p.Lys925Ter)
c.2416A>T (p.Lys806Ter)
 dbSNP
2g.166272590T>CCA349073507SCN1A-AS1,SCN9Ac.3160A>G (p.Lys1054Glu)
c.160A>G (p.Lys54Glu)
c.3127A>G (p.Lys1043Glu)
c.1877-92A>G
n.870-4498T>C
c.2773A>G (p.Lys925Glu)
c.2416A>G (p.Lys806Glu)
 dbSNP
2g.166272590T>GCA349073505SCN1A-AS1,SCN9Ac.3160A>C (p.Lys1054Gln)
c.160A>C (p.Lys54Gln)
c.3127A>C (p.Lys1043Gln)
c.1877-92A>C
n.870-4498T>G
c.2773A>C (p.Lys925Gln)
c.2416A>C (p.Lys806Gln)
 ClinVar dbSNP gnomAD v4
2g.166272590T=CA1304962768SCN1A-AS1,SCN9Ac.3160A= (p.Lys1054=)
c.160A= (p.Lys54=)
c.3127A= (p.Lys1043=)
c.1877-92A=
n.870-4498T=
c.2773A= (p.Lys925=)
c.2416A= (p.Lys806=)
2g.166272591G>ACA429978069SCN1A-AS1,SCN9Ac.3159C>T (p.Leu1053=)
c.159C>T (p.Leu53=)
c.3126C>T (p.Leu1042=)
c.1877-93C>T
n.870-4497G>A
c.2772C>T (p.Leu924=)
c.2415C>T (p.Leu805=)
2g.166272591G>CCA1944131SCN1A-AS1,SCN9Ac.3159C>G (p.Leu1053=)
c.159C>G (p.Leu53=)
c.3126C>G (p.Leu1042=)
c.1877-93C>G
n.870-4497G>C
c.2772C>G (p.Leu924=)
c.2415C>G (p.Leu805=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272591G=CA1304962769SCN1A-AS1,SCN9Ac.3159C= (p.Leu1053=)
c.159C= (p.Leu53=)
c.3126C= (p.Leu1042=)
c.1877-93C=
n.870-4497G=
c.2772C= (p.Leu924=)
c.2415C= (p.Leu805=)
2g.166272591G>TCA429978072SCN1A-AS1,SCN9Ac.3159C>A (p.Leu1053=)
c.159C>A (p.Leu53=)
c.3126C>A (p.Leu1042=)
c.1877-93C>A
n.870-4497G>T
c.2772C>A (p.Leu924=)
c.2415C>A (p.Leu805=)
2g.166272592A=CA1304962770SCN1A-AS1,SCN9Ac.3158T= (p.Leu1053=)
c.158T= (p.Leu53=)
c.3125T= (p.Leu1042=)
c.1877-94T=
n.870-4496A=
c.2771T= (p.Leu924=)
c.2414T= (p.Leu805=)
2g.166272592A>CCA349073521SCN1A-AS1,SCN9Ac.3158T>G (p.Leu1053Arg)
c.158T>G (p.Leu53Arg)
c.3125T>G (p.Leu1042Arg)
c.1877-94T>G
n.870-4496A>C
c.2771T>G (p.Leu924Arg)
c.2414T>G (p.Leu805Arg)
2g.166272592A>GCA349073513SCN1A-AS1,SCN9Ac.3158T>C (p.Leu1053Pro)
c.158T>C (p.Leu53Pro)
c.3125T>C (p.Leu1042Pro)
c.1877-94T>C
n.870-4496A>G
c.2771T>C (p.Leu924Pro)
c.2414T>C (p.Leu805Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272592A>TCA349073515SCN1A-AS1,SCN9Ac.3158T>A (p.Leu1053His)
c.158T>A (p.Leu53His)
c.3125T>A (p.Leu1042His)
c.1877-94T>A
n.870-4496A>T
c.2771T>A (p.Leu924His)
c.2414T>A (p.Leu805His)
2g.166272593G>ACA240874SCN1A-AS1,SCN9Ac.3157C>T (p.Leu1053Phe)
c.157C>T (p.Leu53Phe)
c.3124C>T (p.Leu1042Phe)
c.1877-95C>T
n.870-4495G>A
c.2770C>T (p.Leu924Phe)
c.2413C>T (p.Leu805Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272593G>CCA349073527SCN1A-AS1,SCN9Ac.3157C>G (p.Leu1053Val)
c.157C>G (p.Leu53Val)
c.3124C>G (p.Leu1042Val)
c.1877-95C>G
n.870-4495G>C
c.2770C>G (p.Leu924Val)
c.2413C>G (p.Leu805Val)
2g.166272593G=CA1304962771SCN1A-AS1,SCN9Ac.3157C= (p.Leu1053=)
c.157C= (p.Leu53=)
c.3124C= (p.Leu1042=)
c.1877-95C=
n.870-4495G=
c.2770C= (p.Leu924=)
c.2413C= (p.Leu805=)
2g.166272593G>TCA349073529SCN1A-AS1,SCN9Ac.3157C>A (p.Leu1053Ile)
c.157C>A (p.Leu53Ile)
c.3124C>A (p.Leu1042Ile)
c.1877-95C>A
n.870-4495G>T
c.2770C>A (p.Leu924Ile)
c.2413C>A (p.Leu805Ile)
2g.166272594G>ACA429978074SCN1A-AS1,SCN9Ac.3156C>T (p.Phe1052=)
c.156C>T (p.Phe52=)
c.3123C>T (p.Phe1041=)
c.1877-96C>T
n.870-4494G>A
c.2769C>T (p.Phe923=)
c.2412C>T (p.Phe804=)
 dbSNP COSMIC COSMIC
2g.166272594G>CCA349073532SCN1A-AS1,SCN9Ac.3156C>G (p.Phe1052Leu)
c.156C>G (p.Phe52Leu)
c.3123C>G (p.Phe1041Leu)
c.1877-96C>G
n.870-4494G>C
c.2769C>G (p.Phe923Leu)
c.2412C>G (p.Phe804Leu)
2g.166272594G=CA1304962772SCN1A-AS1,SCN9Ac.3156C= (p.Phe1052=)
c.156C= (p.Phe52=)
c.3123C= (p.Phe1041=)
c.1877-96C=
n.870-4494G=
c.2769C= (p.Phe923=)
c.2412C= (p.Phe804=)
2g.166272594G>TCA349073534SCN1A-AS1,SCN9Ac.3156C>A (p.Phe1052Leu)
c.156C>A (p.Phe52Leu)
c.3123C>A (p.Phe1041Leu)
c.1877-96C>A
n.870-4494G>T
c.2769C>A (p.Phe923Leu)
c.2412C>A (p.Phe804Leu)
2g.166272595A>CCA349073538SCN1A-AS1,SCN9Ac.3155T>G (p.Phe1052Cys)
c.155T>G (p.Phe52Cys)
c.3122T>G (p.Phe1041Cys)
c.1877-97T>G
n.870-4493A>C
c.2768T>G (p.Phe923Cys)
c.2411T>G (p.Phe804Cys)
2g.166272595A>GCA349073541SCN1A-AS1,SCN9Ac.3155T>C (p.Phe1052Ser)
c.155T>C (p.Phe52Ser)
c.3122T>C (p.Phe1041Ser)
c.1877-97T>C
n.870-4493A>G
c.2768T>C (p.Phe923Ser)
c.2411T>C (p.Phe804Ser)
2g.166272595A>TCA349073543SCN1A-AS1,SCN9Ac.3155T>A (p.Phe1052Tyr)
c.155T>A (p.Phe52Tyr)
c.3122T>A (p.Phe1041Tyr)
c.1877-97T>A
n.870-4493A>T
c.2768T>A (p.Phe923Tyr)
c.2411T>A (p.Phe804Tyr)
2g.166272596A=CA1304962773SCN1A-AS1,SCN9Ac.3154T= (p.Phe1052=)
c.154T= (p.Phe52=)
c.3121T= (p.Phe1041=)
c.1877-98T=
n.870-4492A=
c.2767T= (p.Phe923=)
c.2410T= (p.Phe804=)
2g.166272596A>CCA349073546SCN1A-AS1,SCN9Ac.3154T>G (p.Phe1052Val)
c.154T>G (p.Phe52Val)
c.3121T>G (p.Phe1041Val)
c.1877-98T>G
n.870-4492A>C
c.2767T>G (p.Phe923Val)
c.2410T>G (p.Phe804Val)
2g.166272596A>GCA349073549SCN1A-AS1,SCN9Ac.3154T>C (p.Phe1052Leu)
c.154T>C (p.Phe52Leu)
c.3121T>C (p.Phe1041Leu)
c.1877-98T>C
n.870-4492A>G
c.2767T>C (p.Phe923Leu)
c.2410T>C (p.Phe804Leu)
2g.166272596A>TCA59791429SCN1A-AS1,SCN9Ac.3154T>A (p.Phe1052Ile)
c.154T>A (p.Phe52Ile)
c.3121T>A (p.Phe1041Ile)
c.1877-98T>A
n.870-4492A>T
c.2767T>A (p.Phe923Ile)
c.2410T>A (p.Phe804Ile)
 dbSNP gnomAD v4
2g.166272597A>CCA349073553SCN1A-AS1,SCN9Ac.3153T>G (p.Asn1051Lys)
c.153T>G (p.Asn51Lys)
c.3120T>G (p.Asn1040Lys)
c.1877-99T>G
n.870-4491A>C
c.2766T>G (p.Asn922Lys)
c.2409T>G (p.Asn803Lys)
2g.166272597A>GCA429978081SCN1A-AS1,SCN9Ac.3153T>C (p.Asn1051=)
c.153T>C (p.Asn51=)
c.3120T>C (p.Asn1040=)
c.1877-99T>C
n.870-4491A>G
c.2766T>C (p.Asn922=)
c.2409T>C (p.Asn803=)
 ClinVar dbSNP gnomAD v4
2g.166272597A>TCA349073557SCN1A-AS1,SCN9Ac.3153T>A (p.Asn1051Lys)
c.153T>A (p.Asn51Lys)
c.3120T>A (p.Asn1040Lys)
c.1877-99T>A
n.870-4491A>T
c.2766T>A (p.Asn922Lys)
c.2409T>A (p.Asn803Lys)
2g.166272598T>ACA349073560SCN1A-AS1,SCN9Ac.3152A>T (p.Asn1051Ile)
c.152A>T (p.Asn51Ile)
c.3119A>T (p.Asn1040Ile)
c.1877-100A>T
n.870-4490T>A
c.2765A>T (p.Asn922Ile)
c.2408A>T (p.Asn803Ile)
2g.166272598T>CCA349073566SCN1A-AS1,SCN9Ac.3152A>G (p.Asn1051Ser)
c.152A>G (p.Asn51Ser)
c.3119A>G (p.Asn1040Ser)
c.1877-100A>G
n.870-4490T>C
c.2765A>G (p.Asn922Ser)
c.2408A>G (p.Asn803Ser)
2g.166272598T>GCA349073570SCN1A-AS1,SCN9Ac.3152A>C (p.Asn1051Thr)
c.152A>C (p.Asn51Thr)
c.3119A>C (p.Asn1040Thr)
c.1877-100A>C
n.870-4490T>G
c.2765A>C (p.Asn922Thr)
c.2408A>C (p.Asn803Thr)
2g.166272599T>ACA349073574SCN1A-AS1,SCN9Ac.3151A>T (p.Asn1051Tyr)
c.151A>T (p.Asn51Tyr)
c.3118A>T (p.Asn1040Tyr)
c.1877-101A>T
n.870-4489T>A
c.2764A>T (p.Asn922Tyr)
c.2407A>T (p.Asn803Tyr)
2g.166272599T>CCA349073576SCN1A-AS1,SCN9Ac.3151A>G (p.Asn1051Asp)
c.151A>G (p.Asn51Asp)
c.3118A>G (p.Asn1040Asp)
c.1877-101A>G
n.870-4489T>C
c.2764A>G (p.Asn922Asp)
c.2407A>G (p.Asn803Asp)
2g.166272599T>GCA349073578SCN1A-AS1,SCN9Ac.3151A>C (p.Asn1051His)
c.151A>C (p.Asn51His)
c.3118A>C (p.Asn1040His)
c.1877-101A>C
n.870-4489T>G
c.2764A>C (p.Asn922His)
c.2407A>C (p.Asn803His)
2g.166272600G>ACA429978085SCN1A-AS1,SCN9Ac.3150C>T (p.His1050=)
c.150C>T (p.His50=)
c.3117C>T (p.His1039=)
c.1877-102C>T
n.870-4488G>A
c.2763C>T (p.His921=)
c.2406C>T (p.His802=)
2g.166272600G>CCA349073580SCN1A-AS1,SCN9Ac.3150C>G (p.His1050Gln)
c.150C>G (p.His50Gln)
c.3117C>G (p.His1039Gln)
c.1877-102C>G
n.870-4488G>C
c.2763C>G (p.His921Gln)
c.2406C>G (p.His802Gln)
2g.166272600G>TCA349073581SCN1A-AS1,SCN9Ac.3150C>A (p.His1050Gln)
c.150C>A (p.His50Gln)
c.3117C>A (p.His1039Gln)
c.1877-102C>A
n.870-4488G>T
c.2763C>A (p.His921Gln)
c.2406C>A (p.His802Gln)
 dbSNP gnomAD v4
2g.166272601T>ACA349073585SCN1A-AS1,SCN9Ac.3149A>T (p.His1050Leu)
c.149A>T (p.His50Leu)
c.3116A>T (p.His1039Leu)
c.1877-103A>T
n.870-4487T>A
c.2762A>T (p.His921Leu)
c.2405A>T (p.His802Leu)
2g.166272601T>CCA349073587SCN1A-AS1,SCN9Ac.3149A>G (p.His1050Arg)
c.149A>G (p.His50Arg)
c.3116A>G (p.His1039Arg)
c.1877-103A>G
n.870-4487T>C
c.2762A>G (p.His921Arg)
c.2405A>G (p.His802Arg)
2g.166272601T>GCA349073590SCN1A-AS1,SCN9Ac.3149A>C (p.His1050Pro)
c.149A>C (p.His50Pro)
c.3116A>C (p.His1039Pro)
c.1877-103A>C
n.870-4487T>G
c.2762A>C (p.His921Pro)
c.2405A>C (p.His802Pro)
2g.166272602G>ACA59791439SCN1A-AS1,SCN9Ac.3148C>T (p.His1050Tyr)
c.148C>T (p.His50Tyr)
c.3115C>T (p.His1039Tyr)
c.1877-104C>T
n.870-4486G>A
c.2761C>T (p.His921Tyr)
c.2404C>T (p.His802Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166272602G>CCA349073600SCN1A-AS1,SCN9Ac.3148C>G (p.His1050Asp)
c.148C>G (p.His50Asp)
c.3115C>G (p.His1039Asp)
c.1877-104C>G
n.870-4486G>C
c.2761C>G (p.His921Asp)
c.2404C>G (p.His802Asp)
2g.166272602G=CA1304962774SCN1A-AS1,SCN9Ac.3148C= (p.His1050=)
c.148C= (p.His50=)
c.3115C= (p.His1039=)
c.1877-104C=
n.870-4486G=
c.2761C= (p.His921=)
c.2404C= (p.His802=)
2g.166272602G>TCA349073593SCN1A-AS1,SCN9Ac.3148C>A (p.His1050Asn)
c.148C>A (p.His50Asn)
c.3115C>A (p.His1039Asn)
c.1877-104C>A
n.870-4486G>T
c.2761C>A (p.His921Asn)
c.2404C>A (p.His802Asn)
2g.166272603A>CCA429978088SCN1A-AS1,SCN9Ac.3147T>G (p.Gly1049=)
c.147T>G (p.Gly49=)
c.3114T>G (p.Gly1038=)
c.1877-105T>G
n.870-4485A>C
c.2760T>G (p.Gly920=)
c.2403T>G (p.Gly801=)
2g.166272603A>GCA429978089SCN1A-AS1,SCN9Ac.3147T>C (p.Gly1049=)
c.147T>C (p.Gly49=)
c.3114T>C (p.Gly1038=)
c.1877-105T>C
n.870-4485A>G
c.2760T>C (p.Gly920=)
c.2403T>C (p.Gly801=)
2g.166272603A>TCA429978090SCN1A-AS1,SCN9Ac.3147T>A (p.Gly1049=)
c.147T>A (p.Gly49=)
c.3114T>A (p.Gly1038=)
c.1877-105T>A
n.870-4485A>T
c.2760T>A (p.Gly920=)
c.2403T>A (p.Gly801=)
2g.166272604C>ACA349073605SCN1A-AS1,SCN9Ac.3146G>T (p.Gly1049Val)
c.146G>T (p.Gly49Val)
c.3113G>T (p.Gly1038Val)
c.1877-106G>T
n.870-4484C>A
c.2759G>T (p.Gly920Val)
c.2402G>T (p.Gly801Val)
2g.166272604C=CA1304962775SCN1A-AS1,SCN9Ac.3146G= (p.Gly1049=)
c.146G= (p.Gly49=)
c.3113G= (p.Gly1038=)
c.1877-106G=
n.870-4484C=
c.2759G= (p.Gly920=)
c.2402G= (p.Gly801=)
2g.166272604C>GCA349073610SCN1A-AS1,SCN9Ac.3146G>C (p.Gly1049Ala)
c.146G>C (p.Gly49Ala)
c.3113G>C (p.Gly1038Ala)
c.1877-106G>C
n.870-4484C>G
c.2759G>C (p.Gly920Ala)
c.2402G>C (p.Gly801Ala)
2g.166272604C>TCA349073612SCN1A-AS1,SCN9Ac.3146G>A (p.Gly1049Asp)
c.146G>A (p.Gly49Asp)
c.3113G>A (p.Gly1038Asp)
c.1877-106G>A
n.870-4484C>T
c.2759G>A (p.Gly920Asp)
c.2402G>A (p.Gly801Asp)
 dbSNP
2g.166272605dupCA2661766687SCN1A-AS1,SCN9Ac.3146dup (p.His1050SerfsTer9)
c.146dup (p.His50SerfsTer9)
c.3113dup (p.His1039SerfsTer9)
c.1877-106dup
n.870-4483dup
c.2759dup (p.His921SerfsTer9)
c.2402dup (p.His802SerfsTer9)
 gnomAD v4
2g.166272605C>ACA349073615SCN1A-AS1,SCN9Ac.3145G>T (p.Gly1049Cys)
c.145G>T (p.Gly49Cys)
c.3112G>T (p.Gly1038Cys)
c.1877-107G>T
n.870-4483C>A
c.2758G>T (p.Gly920Cys)
c.2401G>T (p.Gly801Cys)
2g.166272605C=CA1304962776SCN1A-AS1,SCN9Ac.3145G= (p.Gly1049=)
c.145G= (p.Gly49=)
c.3112G= (p.Gly1038=)
c.1877-107G=
n.870-4483C=
c.2758G= (p.Gly920=)
c.2401G= (p.Gly801=)
2g.166272605C>GCA349073617SCN1A-AS1,SCN9Ac.3145G>C (p.Gly1049Arg)
c.145G>C (p.Gly49Arg)
c.3112G>C (p.Gly1038Arg)
c.1877-107G>C
n.870-4483C>G
c.2758G>C (p.Gly920Arg)
c.2401G>C (p.Gly801Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272605C>TCA1944132SCN1A-AS1,SCN9Ac.3145G>A (p.Gly1049Ser)
c.145G>A (p.Gly49Ser)
c.3112G>A (p.Gly1038Ser)
c.1877-107G>A
n.870-4483C>T
c.2758G>A (p.Gly920Ser)
c.2401G>A (p.Gly801Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272606T>ACA349073619SCN1A-AS1,SCN9Ac.3144A>T (p.Lys1048Asn)
c.144A>T (p.Lys48Asn)
c.3111A>T (p.Lys1037Asn)
c.1877-108A>T
n.870-4482T>A
c.2757A>T (p.Lys919Asn)
c.2400A>T (p.Lys800Asn)
2g.166272606T>CCA59791449SCN1A-AS1,SCN9Ac.3144A>G (p.Lys1048=)
c.144A>G (p.Lys48=)
c.3111A>G (p.Lys1037=)
c.1877-108A>G
n.870-4482T>C
c.2757A>G (p.Lys919=)
c.2400A>G (p.Lys800=)
 dbSNP gnomAD v4
2g.166272606T>GCA349073621SCN1A-AS1,SCN9Ac.3144A>C (p.Lys1048Asn)
c.144A>C (p.Lys48Asn)
c.3111A>C (p.Lys1037Asn)
c.1877-108A>C
n.870-4482T>G
c.2757A>C (p.Lys919Asn)
c.2400A>C (p.Lys800Asn)
2g.166272606T=CA1304962777SCN1A-AS1,SCN9Ac.3144A= (p.Lys1048=)
c.144A= (p.Lys48=)
c.3111A= (p.Lys1037=)
c.1877-108A=
n.870-4482T=
c.2757A= (p.Lys919=)
c.2400A= (p.Lys800=)
2g.166272607T>ACA349073623SCN1A-AS1,SCN9Ac.3143A>T (p.Lys1048Ile)
c.143A>T (p.Lys48Ile)
c.3110A>T (p.Lys1037Ile)
c.1877-109A>T
n.870-4481T>A
c.2756A>T (p.Lys919Ile)
c.2399A>T (p.Lys800Ile)
2g.166272607T>CCA349073624SCN1A-AS1,SCN9Ac.3143A>G (p.Lys1048Arg)
c.143A>G (p.Lys48Arg)
c.3110A>G (p.Lys1037Arg)
c.1877-109A>G
n.870-4481T>C
c.2756A>G (p.Lys919Arg)
c.2399A>G (p.Lys800Arg)
2g.166272607T>GCA349073626SCN1A-AS1,SCN9Ac.3143A>C (p.Lys1048Thr)
c.143A>C (p.Lys48Thr)
c.3110A>C (p.Lys1037Thr)
c.1877-109A>C
n.870-4481T>G
c.2756A>C (p.Lys919Thr)
c.2399A>C (p.Lys800Thr)
 ClinVar dbSNP gnomAD v4
2g.166272607T=CA1304962778SCN1A-AS1,SCN9Ac.3143A= (p.Lys1048=)
c.143A= (p.Lys48=)
c.3110A= (p.Lys1037=)
c.1877-109A=
n.870-4481T=
c.2756A= (p.Lys919=)
c.2399A= (p.Lys800=)
2g.166272608T>ACA349073627SCN1A-AS1,SCN9Ac.3142A>T (p.Lys1048Ter)
c.142A>T (p.Lys48Ter)
c.3109A>T (p.Lys1037Ter)
c.1877-110A>T
n.870-4480T>A
c.2755A>T (p.Lys919Ter)
c.2398A>T (p.Lys800Ter)
 dbSNP
2g.166272608T>CCA349073630SCN1A-AS1,SCN9Ac.3142A>G (p.Lys1048Glu)
c.142A>G (p.Lys48Glu)
c.3109A>G (p.Lys1037Glu)
c.1877-110A>G
n.870-4480T>C
c.2755A>G (p.Lys919Glu)
c.2398A>G (p.Lys800Glu)
2g.166272608T>GCA349073633SCN1A-AS1,SCN9Ac.3142A>C (p.Lys1048Gln)
c.142A>C (p.Lys48Gln)
c.3109A>C (p.Lys1037Gln)
c.1877-110A>C
n.870-4480T>G
c.2755A>C (p.Lys919Gln)
c.2398A>C (p.Lys800Gln)
2g.166272608T=CA1304962779SCN1A-AS1,SCN9Ac.3142A= (p.Lys1048=)
c.142A= (p.Lys48=)
c.3109A= (p.Lys1037=)
c.1877-110A=
n.870-4480T=
c.2755A= (p.Lys919=)
c.2398A= (p.Lys800=)
2g.166272609G>ACA59791461SCN1A-AS1,SCN9Ac.3141C>T (p.Ser1047=)
c.141C>T (p.Ser47=)
c.3108C>T (p.Ser1036=)
c.1877-111C>T
n.870-4479G>A
c.2754C>T (p.Ser918=)
c.2397C>T (p.Ser799=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272609G>CCA349073638SCN1A-AS1,SCN9Ac.3141C>G (p.Ser1047Arg)
c.141C>G (p.Ser47Arg)
c.3108C>G (p.Ser1036Arg)
c.1877-111C>G
n.870-4479G>C
c.2754C>G (p.Ser918Arg)
c.2397C>G (p.Ser799Arg)
2g.166272609G=CA1304962780SCN1A-AS1,SCN9Ac.3141C= (p.Ser1047=)
c.141C= (p.Ser47=)
c.3108C= (p.Ser1036=)
c.1877-111C=
n.870-4479G=
c.2754C= (p.Ser918=)
c.2397C= (p.Ser799=)
2g.166272609G>TCA349073641SCN1A-AS1,SCN9Ac.3141C>A (p.Ser1047Arg)
c.141C>A (p.Ser47Arg)
c.3108C>A (p.Ser1036Arg)
c.1877-111C>A
n.870-4479G>T
c.2754C>A (p.Ser918Arg)
c.2397C>A (p.Ser799Arg)
 gnomAD v4
2g.166272610C>ACA349073644SCN1A-AS1,SCN9Ac.3140G>T (p.Ser1047Ile)
c.140G>T (p.Ser47Ile)
c.3107G>T (p.Ser1036Ile)
c.1877-112G>T
n.870-4478C>A
c.2753G>T (p.Ser918Ile)
c.2396G>T (p.Ser799Ile)
2g.166272610C=CA1304962781SCN1A-AS1,SCN9Ac.3140G= (p.Ser1047=)
c.140G= (p.Ser47=)
c.3107G= (p.Ser1036=)
c.1877-112G=
n.870-4478C=
c.2753G= (p.Ser918=)
c.2396G= (p.Ser799=)
2g.166272610C>GCA349073647SCN1A-AS1,SCN9Ac.3140G>C (p.Ser1047Thr)
c.140G>C (p.Ser47Thr)
c.3107G>C (p.Ser1036Thr)
c.1877-112G>C
n.870-4478C>G
c.2753G>C (p.Ser918Thr)
c.2396G>C (p.Ser799Thr)
 gnomAD v4
2g.166272610C>TCA59791469SCN1A-AS1,SCN9Ac.3140G>A (p.Ser1047Asn)
c.140G>A (p.Ser47Asn)
c.3107G>A (p.Ser1036Asn)
c.1877-112G>A
n.870-4478C>T
c.2753G>A (p.Ser918Asn)
c.2396G>A (p.Ser799Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272611T>ACA349073652SCN1A-AS1,SCN9Ac.3139A>T (p.Ser1047Cys)
c.139A>T (p.Ser47Cys)
c.3106A>T (p.Ser1036Cys)
c.1877-113A>T
n.870-4477T>A
c.2752A>T (p.Ser918Cys)
c.2395A>T (p.Ser799Cys)
2g.166272611T>CCA349073654SCN1A-AS1,SCN9Ac.3139A>G (p.Ser1047Gly)
c.139A>G (p.Ser47Gly)
c.3106A>G (p.Ser1036Gly)
c.1877-113A>G
n.870-4477T>C
c.2752A>G (p.Ser918Gly)
c.2395A>G (p.Ser799Gly)
 dbSNP gnomAD v2
2g.166272611T>GCA349073657SCN1A-AS1,SCN9Ac.3139A>C (p.Ser1047Arg)
c.139A>C (p.Ser47Arg)
c.3106A>C (p.Ser1036Arg)
c.1877-113A>C
n.870-4477T>G
c.2752A>C (p.Ser918Arg)
c.2395A>C (p.Ser799Arg)
2g.166272611T=CA1304962782SCN1A-AS1,SCN9Ac.3139A= (p.Ser1047=)
c.139A= (p.Ser47=)
c.3106A= (p.Ser1036=)
c.1877-113A=
n.870-4477T=
c.2752A= (p.Ser918=)
c.2395A= (p.Ser799=)
2g.166272612C>ACA349073661SCN1A-AS1,SCN9Ac.3138G>T (p.Met1046Ile)
c.138G>T (p.Met46Ile)
c.3105G>T (p.Met1035Ile)
c.1877-114G>T
n.870-4476C>A
c.2751G>T (p.Met917Ile)
c.2394G>T (p.Met798Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272612C=CA1304962783SCN1A-AS1,SCN9Ac.3138G= (p.Met1046=)
c.138G= (p.Met46=)
c.3105G= (p.Met1035=)
c.1877-114G=
n.870-4476C=
c.2751G= (p.Met917=)
c.2394G= (p.Met798=)
2g.166272612C>GCA349073663SCN1A-AS1,SCN9Ac.3138G>C (p.Met1046Ile)
c.138G>C (p.Met46Ile)
c.3105G>C (p.Met1035Ile)
c.1877-114G>C
n.870-4476C>G
c.2751G>C (p.Met917Ile)
c.2394G>C (p.Met798Ile)
2g.166272612C>TCA349073671SCN1A-AS1,SCN9Ac.3138G>A (p.Met1046Ile)
c.138G>A (p.Met46Ile)
c.3105G>A (p.Met1035Ile)
c.1877-114G>A
n.870-4476C>T
c.2751G>A (p.Met917Ile)
c.2394G>A (p.Met798Ile)
2g.166272613A>CCA349073674SCN1A-AS1,SCN9Ac.3137T>G (p.Met1046Arg)
c.137T>G (p.Met46Arg)
c.3104T>G (p.Met1035Arg)
c.1877-115T>G
n.870-4475A>C
c.2750T>G (p.Met917Arg)
c.2393T>G (p.Met798Arg)
2g.166272613A>GCA349073677SCN1A-AS1,SCN9Ac.3137T>C (p.Met1046Thr)
c.137T>C (p.Met46Thr)
c.3104T>C (p.Met1035Thr)
c.1877-115T>C
n.870-4475A>G
c.2750T>C (p.Met917Thr)
c.2393T>C (p.Met798Thr)
2g.166272613A>TCA349073679SCN1A-AS1,SCN9Ac.3137T>A (p.Met1046Lys)
c.137T>A (p.Met46Lys)
c.3104T>A (p.Met1035Lys)
c.1877-115T>A
n.870-4475A>T
c.2750T>A (p.Met917Lys)
c.2393T>A (p.Met798Lys)
2g.166272614T>ACA349073685SCN1A-AS1,SCN9Ac.3136A>T (p.Met1046Leu)
c.136A>T (p.Met46Leu)
c.3103A>T (p.Met1035Leu)
c.1877-116A>T
n.870-4474T>A
c.2749A>T (p.Met917Leu)
c.2392A>T (p.Met798Leu)
2g.166272614T>CCA349073688SCN1A-AS1,SCN9Ac.3136A>G (p.Met1046Val)
c.136A>G (p.Met46Val)
c.3103A>G (p.Met1035Val)
c.1877-116A>G
n.870-4474T>C
c.2749A>G (p.Met917Val)
c.2392A>G (p.Met798Val)
 ClinVar dbSNP gnomAD v4
2g.166272614T>GCA349073681SCN1A-AS1,SCN9Ac.3136A>C (p.Met1046Leu)
c.136A>C (p.Met46Leu)
c.3103A>C (p.Met1035Leu)
c.1877-116A>C
n.870-4474T>G
c.2749A>C (p.Met917Leu)
c.2392A>C (p.Met798Leu)
2g.166272614T=CA1304962784SCN1A-AS1,SCN9Ac.3136A= (p.Met1046=)
c.136A= (p.Met46=)
c.3103A= (p.Met1035=)
c.1877-116A=
n.870-4474T=
c.2749A= (p.Met917=)
c.2392A= (p.Met798=)
2g.166272615T>ACA349073695SCN1A-AS1,SCN9Ac.3135A>T (p.Glu1045Asp)
c.135A>T (p.Glu45Asp)
c.3102A>T (p.Glu1034Asp)
c.1877-117A>T
n.870-4473T>A
c.2748A>T (p.Glu916Asp)
c.2391A>T (p.Glu797Asp)
2g.166272615T>CCA429978110SCN1A-AS1,SCN9Ac.3135A>G (p.Glu1045=)
c.135A>G (p.Glu45=)
c.3102A>G (p.Glu1034=)
c.1877-117A>G
n.870-4473T>C
c.2748A>G (p.Glu916=)
c.2391A>G (p.Glu797=)
2g.166272615T>GCA349073692SCN1A-AS1,SCN9Ac.3135A>C (p.Glu1045Asp)
c.135A>C (p.Glu45Asp)
c.3102A>C (p.Glu1034Asp)
c.1877-117A>C
n.870-4473T>G
c.2748A>C (p.Glu916Asp)
c.2391A>C (p.Glu797Asp)
2g.166272616T>ACA349073698SCN1A-AS1,SCN9Ac.3134A>T (p.Glu1045Val)
c.134A>T (p.Glu45Val)
c.3101A>T (p.Glu1034Val)
c.1877-118A>T
n.870-4472T>A
c.2747A>T (p.Glu916Val)
c.2390A>T (p.Glu797Val)
2g.166272616T>CCA349073701SCN1A-AS1,SCN9Ac.3134A>G (p.Glu1045Gly)
c.134A>G (p.Glu45Gly)
c.3101A>G (p.Glu1034Gly)
c.1877-118A>G
n.870-4472T>C
c.2747A>G (p.Glu916Gly)
c.2390A>G (p.Glu797Gly)
2g.166272616T>GCA349073703SCN1A-AS1,SCN9Ac.3134A>C (p.Glu1045Ala)
c.134A>C (p.Glu45Ala)
c.3101A>C (p.Glu1034Ala)
c.1877-118A>C
n.870-4472T>G
c.2747A>C (p.Glu916Ala)
c.2390A>C (p.Glu797Ala)
2g.166272617C>ACA59791481SCN1A-AS1,SCN9Ac.3133G>T (p.Glu1045Ter)
c.133G>T (p.Glu45Ter)
c.3100G>T (p.Glu1034Ter)
c.1877-119G>T
n.870-4471C>A
c.2746G>T (p.Glu916Ter)
c.2389G>T (p.Glu797Ter)
 dbSNP
2g.166272617C=CA1304962785SCN1A-AS1,SCN9Ac.3133G= (p.Glu1045=)
c.133G= (p.Glu45=)
c.3100G= (p.Glu1034=)
c.1877-119G=
n.870-4471C=
c.2746G= (p.Glu916=)
c.2389G= (p.Glu797=)
2g.166272617C>GCA349073708SCN1A-AS1,SCN9Ac.3133G>C (p.Glu1045Gln)
c.133G>C (p.Glu45Gln)
c.3100G>C (p.Glu1034Gln)
c.1877-119G>C
n.870-4471C>G
c.2746G>C (p.Glu916Gln)
c.2389G>C (p.Glu797Gln)
2g.166272617C>TCA349073710SCN1A-AS1,SCN9Ac.3133G>A (p.Glu1045Lys)
c.133G>A (p.Glu45Lys)
c.3100G>A (p.Glu1034Lys)
c.1877-119G>A
n.870-4471C>T
c.2746G>A (p.Glu916Lys)
c.2389G>A (p.Glu797Lys)
2g.166272618A>CCA429978113SCN1A-AS1,SCN9Ac.3132T>G (p.Ala1044=)
c.132T>G (p.Ala44=)
c.3099T>G (p.Ala1033=)
c.1877-120T>G
n.870-4470A>C
c.2745T>G (p.Ala915=)
c.2388T>G (p.Ala796=)
2g.166272618A>GCA429978114SCN1A-AS1,SCN9Ac.3132T>C (p.Ala1044=)
c.132T>C (p.Ala44=)
c.3099T>C (p.Ala1033=)
c.1877-120T>C
n.870-4470A>G
c.2745T>C (p.Ala915=)
c.2388T>C (p.Ala796=)
2g.166272618A>TCA429978115SCN1A-AS1,SCN9Ac.3132T>A (p.Ala1044=)
c.132T>A (p.Ala44=)
c.3099T>A (p.Ala1033=)
c.1877-120T>A
n.870-4470A>T
c.2745T>A (p.Ala915=)
c.2388T>A (p.Ala796=)
2g.166272619G>ACA349073714SCN1A-AS1,SCN9Ac.3131C>T (p.Ala1044Val)
c.131C>T (p.Ala44Val)
c.3098C>T (p.Ala1033Val)
c.1877-121C>T
n.870-4469G>A
c.2744C>T (p.Ala915Val)
c.2387C>T (p.Ala796Val)
2g.166272619G>CCA349073721SCN1A-AS1,SCN9Ac.3131C>G (p.Ala1044Gly)
c.131C>G (p.Ala44Gly)
c.3098C>G (p.Ala1033Gly)
c.1877-121C>G
n.870-4469G>C
c.2744C>G (p.Ala915Gly)
c.2387C>G (p.Ala796Gly)
 ClinVar dbSNP
2g.166272619G=CA1304962786SCN1A-AS1,SCN9Ac.3131C= (p.Ala1044=)
c.131C= (p.Ala44=)
c.3098C= (p.Ala1033=)
c.1877-121C=
n.870-4469G=
c.2744C= (p.Ala915=)
c.2387C= (p.Ala796=)
2g.166272619G>TCA349073723SCN1A-AS1,SCN9Ac.3131C>A (p.Ala1044Asp)
c.131C>A (p.Ala44Asp)
c.3098C>A (p.Ala1033Asp)
c.1877-121C>A
n.870-4469G>T
c.2744C>A (p.Ala915Asp)
c.2387C>A (p.Ala796Asp)
 ClinVar
2g.166272620C>ACA349073725SCN1A-AS1,SCN9Ac.3130G>T (p.Ala1044Ser)
c.130G>T (p.Ala44Ser)
c.3097G>T (p.Ala1033Ser)
c.1877-122G>T
n.870-4468C>A
c.2743G>T (p.Ala915Ser)
c.2386G>T (p.Ala796Ser)
2g.166272620C=CA1304962787SCN1A-AS1,SCN9Ac.3130G= (p.Ala1044=)
c.130G= (p.Ala44=)
c.3097G= (p.Ala1033=)
c.1877-122G=
n.870-4468C=
c.2743G= (p.Ala915=)
c.2386G= (p.Ala796=)
2g.166272620C>GCA349073726SCN1A-AS1,SCN9Ac.3130G>C (p.Ala1044Pro)
c.130G>C (p.Ala44Pro)
c.3097G>C (p.Ala1033Pro)
c.1877-122G>C
n.870-4468C>G
c.2743G>C (p.Ala915Pro)
c.2386G>C (p.Ala796Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272620C>TCA349073729SCN1A-AS1,SCN9Ac.3130G>A (p.Ala1044Thr)
c.130G>A (p.Ala44Thr)
c.3097G>A (p.Ala1033Thr)
c.1877-122G>A
n.870-4468C>T
c.2743G>A (p.Ala915Thr)
c.2386G>A (p.Ala796Thr)
2g.166272621A>CCA429978121SCN1A-AS1,SCN9Ac.3129T>G (p.Leu1043=)
c.129T>G (p.Leu43=)
c.3096T>G (p.Leu1032=)
c.1877-123T>G
n.870-4467A>C
c.2742T>G (p.Leu914=)
c.2385T>G (p.Leu795=)
 ClinVar
2g.166272621A>GCA429978123SCN1A-AS1,SCN9Ac.3129T>C (p.Leu1043=)
c.129T>C (p.Leu43=)
c.3096T>C (p.Leu1032=)
c.1877-123T>C
n.870-4467A>G
c.2742T>C (p.Leu914=)
c.2385T>C (p.Leu795=)
2g.166272621A>TCA429978124SCN1A-AS1,SCN9Ac.3129T>A (p.Leu1043=)
c.129T>A (p.Leu43=)
c.3096T>A (p.Leu1032=)
c.1877-123T>A
n.870-4467A>T
c.2742T>A (p.Leu914=)
c.2385T>A (p.Leu795=)
2g.166272622delCA2701016303SCN1A-AS1,SCN9Ac.3129del (p.Ala1044LeufsTer3)
c.129del (p.Ala44LeufsTer3)
c.3096del (p.Ala1033LeufsTer3)
c.1877-123del
n.870-4466del
c.2742del (p.Ala915LeufsTer3)
c.2385del (p.Ala796LeufsTer3)
 dbSNP
2g.166272622A>CCA349073744SCN1A-AS1,SCN9Ac.3128T>G (p.Leu1043Arg)
c.128T>G (p.Leu43Arg)
c.3095T>G (p.Leu1032Arg)
c.1877-124T>G
n.870-4466A>C
c.2741T>G (p.Leu914Arg)
c.2384T>G (p.Leu795Arg)
2g.166272622A>GCA349073736SCN1A-AS1,SCN9Ac.3128T>C (p.Leu1043Pro)
c.128T>C (p.Leu43Pro)
c.3095T>C (p.Leu1032Pro)
c.1877-124T>C
n.870-4466A>G
c.2741T>C (p.Leu914Pro)
c.2384T>C (p.Leu795Pro)
2g.166272622A>TCA349073732SCN1A-AS1,SCN9Ac.3128T>A (p.Leu1043His)
c.128T>A (p.Leu43His)
c.3095T>A (p.Leu1032His)
c.1877-124T>A
n.870-4466A>T
c.2741T>A (p.Leu914His)
c.2384T>A (p.Leu795His)
2g.166272623G>ACA349073746SCN1A-AS1,SCN9Ac.3127C>T (p.Leu1043Phe)
c.127C>T (p.Leu43Phe)
c.3094C>T (p.Leu1032Phe)
c.1877-125C>T
n.870-4465G>A
c.2740C>T (p.Leu914Phe)
c.2383C>T (p.Leu795Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272623G>CCA349073748SCN1A-AS1,SCN9Ac.3127C>G (p.Leu1043Val)
c.127C>G (p.Leu43Val)
c.3094C>G (p.Leu1032Val)
c.1877-125C>G
n.870-4465G>C
c.2740C>G (p.Leu914Val)
c.2383C>G (p.Leu795Val)
2g.166272623G=CA1304962788SCN1A-AS1,SCN9Ac.3127C= (p.Leu1043=)
c.127C= (p.Leu43=)
c.3094C= (p.Leu1032=)
c.1877-125C=
n.870-4465G=
c.2740C= (p.Leu914=)
c.2383C= (p.Leu795=)
2g.166272623G>TCA349073749SCN1A-AS1,SCN9Ac.3127C>A (p.Leu1043Ile)
c.127C>A (p.Leu43Ile)
c.3094C>A (p.Leu1032Ile)
c.1877-125C>A
n.870-4465G>T
c.2740C>A (p.Leu914Ile)
c.2383C>A (p.Leu795Ile)
2g.166272624T>ACA429978127SCN1A-AS1,SCN9Ac.3126A>T (p.Thr1042=)
c.126A>T (p.Thr42=)
c.3093A>T (p.Thr1031=)
c.1877-126A>T
n.870-4464T>A
c.2739A>T (p.Thr913=)
c.2382A>T (p.Thr794=)
2g.166272624T>CCA429978129SCN1A-AS1,SCN9Ac.3126A>G (p.Thr1042=)
c.126A>G (p.Thr42=)
c.3093A>G (p.Thr1031=)
c.1877-126A>G
n.870-4464T>C
c.2739A>G (p.Thr913=)
c.2382A>G (p.Thr794=)
2g.166272624T>GCA429978131SCN1A-AS1,SCN9Ac.3126A>C (p.Thr1042=)
c.126A>C (p.Thr42=)
c.3093A>C (p.Thr1031=)
c.1877-126A>C
n.870-4464T>G
c.2739A>C (p.Thr913=)
c.2382A>C (p.Thr794=)
2g.166272625G>ACA1944133SCN1A-AS1,SCN9Ac.3125C>T (p.Thr1042Ile)
c.125C>T (p.Thr42Ile)
c.3092C>T (p.Thr1031Ile)
c.1877-127C>T
n.870-4463G>A
c.2738C>T (p.Thr913Ile)
c.2381C>T (p.Thr794Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272625G>CCA349073754SCN1A-AS1,SCN9Ac.3125C>G (p.Thr1042Arg)
c.125C>G (p.Thr42Arg)
c.3092C>G (p.Thr1031Arg)
c.1877-127C>G
n.870-4463G>C
c.2738C>G (p.Thr913Arg)
c.2381C>G (p.Thr794Arg)
 dbSNP
2g.166272625G=CA1304962789SCN1A-AS1,SCN9Ac.3125C= (p.Thr1042=)
c.125C= (p.Thr42=)
c.3092C= (p.Thr1031=)
c.1877-127C=
n.870-4463G=
c.2738C= (p.Thr913=)
c.2381C= (p.Thr794=)
2g.166272625G>TCA349073757SCN1A-AS1,SCN9Ac.3125C>A (p.Thr1042Lys)
c.125C>A (p.Thr42Lys)
c.3092C>A (p.Thr1031Lys)
c.1877-127C>A
n.870-4463G>T
c.2738C>A (p.Thr913Lys)
c.2381C>A (p.Thr794Lys)
2g.166272626T>ACA349073762SCN1A-AS1,SCN9Ac.3124A>T (p.Thr1042Ser)
c.124A>T (p.Thr42Ser)
c.3091A>T (p.Thr1031Ser)
c.1877-128A>T
n.870-4462T>A
c.2737A>T (p.Thr913Ser)
c.2380A>T (p.Thr794Ser)
2g.166272626T>CCA349073763SCN1A-AS1,SCN9Ac.3124A>G (p.Thr1042Ala)
c.124A>G (p.Thr42Ala)
c.3091A>G (p.Thr1031Ala)
c.1877-128A>G
n.870-4462T>C
c.2737A>G (p.Thr913Ala)
c.2380A>G (p.Thr794Ala)
2g.166272626T>GCA349073766SCN1A-AS1,SCN9Ac.3124A>C (p.Thr1042Pro)
c.124A>C (p.Thr42Pro)
c.3091A>C (p.Thr1031Pro)
c.1877-128A>C
n.870-4462T>G
c.2737A>C (p.Thr913Pro)
c.2380A>C (p.Thr794Pro)
2g.166272627A=CA1304962790SCN1A-AS1,SCN9Ac.3123T= (p.His1041=)
c.123T= (p.His41=)
c.3090T= (p.His1030=)
c.1877-129T=
n.870-4461A=
c.2736T= (p.His912=)
c.2379T= (p.His793=)
2g.166272627A>CCA349073768SCN1A-AS1,SCN9Ac.3123T>G (p.His1041Gln)
c.123T>G (p.His41Gln)
c.3090T>G (p.His1030Gln)
c.1877-129T>G
n.870-4461A>C
c.2736T>G (p.His912Gln)
c.2379T>G (p.His793Gln)
2g.166272627A>GCA429978133SCN1A-AS1,SCN9Ac.3123T>C (p.His1041=)
c.123T>C (p.His41=)
c.3090T>C (p.His1030=)
c.1877-129T>C
n.870-4461A>G
c.2736T>C (p.His912=)
c.2379T>C (p.His793=)
 dbSNP
2g.166272627A>TCA349073771SCN1A-AS1,SCN9Ac.3123T>A (p.His1041Gln)
c.123T>A (p.His41Gln)
c.3090T>A (p.His1030Gln)
c.1877-129T>A
n.870-4461A>T
c.2736T>A (p.His912Gln)
c.2379T>A (p.His793Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272628T>ACA349073774SCN1A-AS1,SCN9Ac.3122A>T (p.His1041Leu)
c.122A>T (p.His41Leu)
c.3089A>T (p.His1030Leu)
c.1877-130A>T
n.870-4460T>A
c.2735A>T (p.His912Leu)
c.2378A>T (p.His793Leu)
 ClinVar
2g.166272628T>CCA349073775SCN1A-AS1,SCN9Ac.3122A>G (p.His1041Arg)
c.122A>G (p.His41Arg)
c.3089A>G (p.His1030Arg)
c.1877-130A>G
n.870-4460T>C
c.2735A>G (p.His912Arg)
c.2378A>G (p.His793Arg)
 gnomAD v4
2g.166272628T>GCA349073776SCN1A-AS1,SCN9Ac.3122A>C (p.His1041Pro)
c.122A>C (p.His41Pro)
c.3089A>C (p.His1030Pro)
c.1877-130A>C
n.870-4460T>G
c.2735A>C (p.His912Pro)
c.2378A>C (p.His793Pro)
2g.166272629G>ACA349073777SCN1A-AS1,SCN9Ac.3121C>T (p.His1041Tyr)
c.121C>T (p.His41Tyr)
c.3088C>T (p.His1030Tyr)
c.1877-131C>T
n.870-4459G>A
c.2734C>T (p.His912Tyr)
c.2377C>T (p.His793Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166272629G>CCA59791487SCN1A-AS1,SCN9Ac.3121C>G (p.His1041Asp)
c.121C>G (p.His41Asp)
c.3088C>G (p.His1030Asp)
c.1877-131C>G
n.870-4459G>C
c.2734C>G (p.His912Asp)
c.2377C>G (p.His793Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272629G=CA1304962791SCN1A-AS1,SCN9Ac.3121C= (p.His1041=)
c.121C= (p.His41=)
c.3088C= (p.His1030=)
c.1877-131C=
n.870-4459G=
c.2734C= (p.His912=)
c.2377C= (p.His793=)
2g.166272629G>TCA59791493SCN1A-AS1,SCN9Ac.3121C>A (p.His1041Asn)
c.121C>A (p.His41Asn)
c.3088C>A (p.His1030Asn)
c.1877-131C>A
n.870-4459G>T
c.2734C>A (p.His912Asn)
c.2377C>A (p.His793Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272630G>ACA429978137SCN1A-AS1,SCN9Ac.3120C>T (p.Asn1040=)
c.120C>T (p.Asn40=)
c.3087C>T (p.Asn1029=)
c.1877-132C>T
n.870-4458G>A
c.2733C>T (p.Asn911=)
c.2376C>T (p.Asn792=)
 gnomAD v4
2g.166272630G>CCA1944134SCN1A-AS1,SCN9Ac.3120C>G (p.Asn1040Lys)
c.120C>G (p.Asn40Lys)
c.3087C>G (p.Asn1029Lys)
c.1877-132C>G
n.870-4458G>C
c.2733C>G (p.Asn911Lys)
c.2376C>G (p.Asn792Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272630G=CA1304962792SCN1A-AS1,SCN9Ac.3120C= (p.Asn1040=)
c.120C= (p.Asn40=)
c.3087C= (p.Asn1029=)
c.1877-132C=
n.870-4458G=
c.2733C= (p.Asn911=)
c.2376C= (p.Asn792=)
2g.166272630G>TCA349073783SCN1A-AS1,SCN9Ac.3120C>A (p.Asn1040Lys)
c.120C>A (p.Asn40Lys)
c.3087C>A (p.Asn1029Lys)
c.1877-132C>A
n.870-4458G>T
c.2733C>A (p.Asn911Lys)
c.2376C>A (p.Asn792Lys)
2g.166272631T>ACA349073787SCN1A-AS1,SCN9Ac.3119A>T (p.Asn1040Ile)
c.119A>T (p.Asn40Ile)
c.3086A>T (p.Asn1029Ile)
c.1877-133A>T
n.870-4457T>A
c.2732A>T (p.Asn911Ile)
c.2375A>T (p.Asn792Ile)
2g.166272631T>CCA349073788SCN1A-AS1,SCN9Ac.3119A>G (p.Asn1040Ser)
c.119A>G (p.Asn40Ser)
c.3086A>G (p.Asn1029Ser)
c.1877-133A>G
n.870-4457T>C
c.2732A>G (p.Asn911Ser)
c.2375A>G (p.Asn792Ser)
2g.166272631T>GCA349073791SCN1A-AS1,SCN9Ac.3119A>C (p.Asn1040Thr)
c.119A>C (p.Asn40Thr)
c.3086A>C (p.Asn1029Thr)
c.1877-133A>C
n.870-4457T>G
c.2732A>C (p.Asn911Thr)
c.2375A>C (p.Asn792Thr)
2g.166272632T>ACA349073793SCN1A-AS1,SCN9Ac.3118A>T (p.Asn1040Tyr)
c.118A>T (p.Asn40Tyr)
c.3085A>T (p.Asn1029Tyr)
c.1877-134A>T
n.870-4456T>A
c.2731A>T (p.Asn911Tyr)
c.2374A>T (p.Asn792Tyr)
2g.166272632T>CCA349073795SCN1A-AS1,SCN9Ac.3118A>G (p.Asn1040Asp)
c.118A>G (p.Asn40Asp)
c.3085A>G (p.Asn1029Asp)
c.1877-134A>G
n.870-4456T>C
c.2731A>G (p.Asn911Asp)
c.2374A>G (p.Asn792Asp)
2g.166272632T>GCA349073797SCN1A-AS1,SCN9Ac.3118A>C (p.Asn1040His)
c.118A>C (p.Asn40His)
c.3085A>C (p.Asn1029His)
c.1877-134A>C
n.870-4456T>G
c.2731A>C (p.Asn911His)
c.2374A>C (p.Asn792His)
2g.166272633A>CCA429978138SCN1A-AS1,SCN9Ac.3117T>G (p.Ser1039=)
c.117T>G (p.Ser39=)
c.3084T>G (p.Ser1028=)
c.1877-135T>G
n.870-4455A>C
c.2730T>G (p.Ser910=)
c.2373T>G (p.Ser791=)
2g.166272633A>GCA429978141SCN1A-AS1,SCN9Ac.3117T>C (p.Ser1039=)
c.117T>C (p.Ser39=)
c.3084T>C (p.Ser1028=)
c.1877-135T>C
n.870-4455A>G
c.2730T>C (p.Ser910=)
c.2373T>C (p.Ser791=)
2g.166272633A>TCA429978144SCN1A-AS1,SCN9Ac.3117T>A (p.Ser1039=)
c.117T>A (p.Ser39=)
c.3084T>A (p.Ser1028=)
c.1877-135T>A
n.870-4455A>T
c.2730T>A (p.Ser910=)
c.2373T>A (p.Ser791=)
2g.166272634G>ACA349073802SCN1A-AS1,SCN9Ac.3116C>T (p.Ser1039Phe)
c.116C>T (p.Ser39Phe)
c.3083C>T (p.Ser1028Phe)
c.1877-136C>T
n.870-4454G>A
c.2729C>T (p.Ser910Phe)
c.2372C>T (p.Ser791Phe)
2g.166272634G>CCA349073804SCN1A-AS1,SCN9Ac.3116C>G (p.Ser1039Cys)
c.116C>G (p.Ser39Cys)
c.3083C>G (p.Ser1028Cys)
c.1877-136C>G
n.870-4454G>C
c.2729C>G (p.Ser910Cys)
c.2372C>G (p.Ser791Cys)
2g.166272634G>TCA349073806SCN1A-AS1,SCN9Ac.3116C>A (p.Ser1039Tyr)
c.116C>A (p.Ser39Tyr)
c.3083C>A (p.Ser1028Tyr)
c.1877-136C>A
n.870-4454G>T
c.2729C>A (p.Ser910Tyr)
c.2372C>A (p.Ser791Tyr)
2g.166272635A>CCA349073811SCN1A-AS1,SCN9Ac.3115T>G (p.Ser1039Ala)
c.115T>G (p.Ser39Ala)
c.3082T>G (p.Ser1028Ala)
c.1877-137T>G
n.870-4453A>C
c.2728T>G (p.Ser910Ala)
c.2371T>G (p.Ser791Ala)
2g.166272635A>GCA349073810SCN1A-AS1,SCN9Ac.3115T>C (p.Ser1039Pro)
c.115T>C (p.Ser39Pro)
c.3082T>C (p.Ser1028Pro)
c.1877-137T>C
n.870-4453A>G
c.2728T>C (p.Ser910Pro)
c.2371T>C (p.Ser791Pro)
2g.166272635A>TCA349073809SCN1A-AS1,SCN9Ac.3115T>A (p.Ser1039Thr)
c.115T>A (p.Ser39Thr)
c.3082T>A (p.Ser1028Thr)
c.1877-137T>A
n.870-4453A>T
c.2728T>A (p.Ser910Thr)
c.2371T>A (p.Ser791Thr)
2g.166272636A>CCA349073812SCN1A-AS1,SCN9Ac.3114T>G (p.Ile1038Met)
c.114T>G (p.Ile38Met)
c.3081T>G (p.Ile1027Met)
c.1877-138T>G
n.870-4452A>C
c.2727T>G (p.Ile909Met)
c.2370T>G (p.Ile790Met)
2g.166272636A>GCA429978149SCN1A-AS1,SCN9Ac.3114T>C (p.Ile1038=)
c.114T>C (p.Ile38=)
c.3081T>C (p.Ile1027=)
c.1877-138T>C
n.870-4452A>G
c.2727T>C (p.Ile909=)
c.2370T>C (p.Ile790=)
2g.166272636A>TCA429978151SCN1A-AS1,SCN9Ac.3114T>A (p.Ile1038=)
c.114T>A (p.Ile38=)
c.3081T>A (p.Ile1027=)
c.1877-138T>A
n.870-4452A>T
c.2727T>A (p.Ile909=)
c.2370T>A (p.Ile790=)
 COSMIC COSMIC
2g.166272637A>CCA349073815SCN1A-AS1,SCN9Ac.3113T>G (p.Ile1038Ser)
c.113T>G (p.Ile38Ser)
c.3080T>G (p.Ile1027Ser)
c.1877-139T>G
n.870-4451A>C
c.2726T>G (p.Ile909Ser)
c.2369T>G (p.Ile790Ser)
2g.166272637A>GCA349073816SCN1A-AS1,SCN9Ac.3113T>C (p.Ile1038Thr)
c.113T>C (p.Ile38Thr)
c.3080T>C (p.Ile1027Thr)
c.1877-139T>C
n.870-4451A>G
c.2726T>C (p.Ile909Thr)
c.2369T>C (p.Ile790Thr)
 gnomAD v4
2g.166272637A>TCA349073819SCN1A-AS1,SCN9Ac.3113T>A (p.Ile1038Asn)
c.113T>A (p.Ile38Asn)
c.3080T>A (p.Ile1027Asn)
c.1877-139T>A
n.870-4451A>T
c.2726T>A (p.Ile909Asn)
c.2369T>A (p.Ile790Asn)
2g.166272638T>ACA349073823SCN1A-AS1,SCN9Ac.3112A>T (p.Ile1038Phe)
c.112A>T (p.Ile38Phe)
c.3079A>T (p.Ile1027Phe)
c.1877-140A>T
n.870-4450T>A
c.2725A>T (p.Ile909Phe)
c.2368A>T (p.Ile790Phe)
2g.166272638T>CCA1944135SCN1A-AS1,SCN9Ac.3112A>G (p.Ile1038Val)
c.112A>G (p.Ile38Val)
c.3079A>G (p.Ile1027Val)
c.1877-140A>G
n.870-4450T>C
c.2725A>G (p.Ile909Val)
c.2368A>G (p.Ile790Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272638T>GCA349073829SCN1A-AS1,SCN9Ac.3112A>C (p.Ile1038Leu)
c.112A>C (p.Ile38Leu)
c.3079A>C (p.Ile1027Leu)
c.1877-140A>C
n.870-4450T>G
c.2725A>C (p.Ile909Leu)
c.2368A>C (p.Ile790Leu)
2g.166272638T=CA1304962793SCN1A-AS1,SCN9Ac.3112A= (p.Ile1038=)
c.112A= (p.Ile38=)
c.3079A= (p.Ile1027=)
c.1877-140A=
n.870-4450T=
c.2725A= (p.Ile909=)
c.2368A= (p.Ile790=)
2g.166272639A=CA1304962794SCN1A-AS1,SCN9Ac.3111T= (p.Tyr1037=)
c.111T= (p.Tyr37=)
c.3078T= (p.Tyr1026=)
c.1877-141T=
n.870-4449A=
c.2724T= (p.Tyr908=)
c.2367T= (p.Tyr789=)
2g.166272639A>CCA349073832SCN1A-AS1,SCN9Ac.3111T>G (p.Tyr1037Ter)
c.111T>G (p.Tyr37Ter)
c.3078T>G (p.Tyr1026Ter)
c.1877-141T>G
n.870-4449A>C
c.2724T>G (p.Tyr908Ter)
c.2367T>G (p.Tyr789Ter)
2g.166272639A>GCA59791527SCN1A-AS1,SCN9Ac.3111T>C (p.Tyr1037=)
c.111T>C (p.Tyr37=)
c.3078T>C (p.Tyr1026=)
c.1877-141T>C
n.870-4449A>G
c.2724T>C (p.Tyr908=)
c.2367T>C (p.Tyr789=)
 ClinVar dbSNP gnomAD v4
2g.166272639A>TCA349073835SCN1A-AS1,SCN9Ac.3111T>A (p.Tyr1037Ter)
c.111T>A (p.Tyr37Ter)
c.3078T>A (p.Tyr1026Ter)
c.1877-141T>A
n.870-4449A>T
c.2724T>A (p.Tyr908Ter)
c.2367T>A (p.Tyr789Ter)
2g.166272640T>ACA349073836SCN1A-AS1,SCN9Ac.3110A>T (p.Tyr1037Phe)
c.110A>T (p.Tyr37Phe)
c.3077A>T (p.Tyr1026Phe)
c.1877-142A>T
n.870-4448T>A
c.2723A>T (p.Tyr908Phe)
c.2366A>T (p.Tyr789Phe)
 ClinVar
2g.166272640T>CCA59791528SCN1A-AS1,SCN9Ac.3110A>G (p.Tyr1037Cys)
c.110A>G (p.Tyr37Cys)
c.3077A>G (p.Tyr1026Cys)
c.1877-142A>G
n.870-4448T>C
c.2723A>G (p.Tyr908Cys)
c.2366A>G (p.Tyr789Cys)
 ClinVar dbSNP gnomAD v4
2g.166272640T>GCA349073837SCN1A-AS1,SCN9Ac.3110A>C (p.Tyr1037Ser)
c.110A>C (p.Tyr37Ser)
c.3077A>C (p.Tyr1026Ser)
c.1877-142A>C
n.870-4448T>G
c.2723A>C (p.Tyr908Ser)
c.2366A>C (p.Tyr789Ser)
2g.166272640T=CA1304962795SCN1A-AS1,SCN9Ac.3110A= (p.Tyr1037=)
c.110A= (p.Tyr37=)
c.3077A= (p.Tyr1026=)
c.1877-142A=
n.870-4448T=
c.2723A= (p.Tyr908=)
c.2366A= (p.Tyr789=)
2g.166272641A>CCA349073842SCN1A-AS1,SCN9Ac.3109T>G (p.Tyr1037Asp)
c.109T>G (p.Tyr37Asp)
c.3076T>G (p.Tyr1026Asp)
c.1877-143T>G
n.870-4447A>C
c.2722T>G (p.Tyr908Asp)
c.2365T>G (p.Tyr789Asp)
2g.166272641A>GCA349073841SCN1A-AS1,SCN9Ac.3109T>C (p.Tyr1037His)
c.109T>C (p.Tyr37His)
c.3076T>C (p.Tyr1026His)
c.1877-143T>C
n.870-4447A>G
c.2722T>C (p.Tyr908His)
c.2365T>C (p.Tyr789His)
2g.166272641A>TCA349073839SCN1A-AS1,SCN9Ac.3109T>A (p.Tyr1037Asn)
c.109T>A (p.Tyr37Asn)
c.3076T>A (p.Tyr1026Asn)
c.1877-143T>A
n.870-4447A>T
c.2722T>A (p.Tyr908Asn)
c.2365T>A (p.Tyr789Asn)
2g.166272642G>ACA429978155SCN1A-AS1,SCN9Ac.3108C>T (p.Asn1036=)
c.108C>T (p.Asn36=)
c.3075C>T (p.Asn1025=)
c.1877-144C>T
n.870-4446G>A
c.2721C>T (p.Asn907=)
c.2364C>T (p.Asn788=)
 gnomAD v4
2g.166272642G>CCA349073847SCN1A-AS1,SCN9Ac.3108C>G (p.Asn1036Lys)
c.108C>G (p.Asn36Lys)
c.3075C>G (p.Asn1025Lys)
c.1877-144C>G
n.870-4446G>C
c.2721C>G (p.Asn907Lys)
c.2364C>G (p.Asn788Lys)
2g.166272642G>TCA349073845SCN1A-AS1,SCN9Ac.3108C>A (p.Asn1036Lys)
c.108C>A (p.Asn36Lys)
c.3075C>A (p.Asn1025Lys)
c.1877-144C>A
n.870-4446G>T
c.2721C>A (p.Asn907Lys)
c.2364C>A (p.Asn788Lys)
2g.166272643T>ACA349073850SCN1A-AS1,SCN9Ac.3107A>T (p.Asn1036Ile)
c.107A>T (p.Asn36Ile)
c.3074A>T (p.Asn1025Ile)
c.1877-145A>T
n.870-4445T>A
c.2720A>T (p.Asn907Ile)
c.2363A>T (p.Asn788Ile)
2g.166272643T>CCA349073848SCN1A-AS1,SCN9Ac.3107A>G (p.Asn1036Ser)
c.107A>G (p.Asn36Ser)
c.3074A>G (p.Asn1025Ser)
c.1877-145A>G
n.870-4445T>C
c.2720A>G (p.Asn907Ser)
c.2363A>G (p.Asn788Ser)
2g.166272643T>GCA349073849SCN1A-AS1,SCN9Ac.3107A>C (p.Asn1036Thr)
c.107A>C (p.Asn36Thr)
c.3074A>C (p.Asn1025Thr)
c.1877-145A>C
n.870-4445T>G
c.2720A>C (p.Asn907Thr)
c.2363A>C (p.Asn788Thr)
2g.166272644T>ACA349073852SCN1A-AS1,SCN9Ac.3106A>T (p.Asn1036Tyr)
c.106A>T (p.Asn36Tyr)
c.3073A>T (p.Asn1025Tyr)
c.1877-146A>T
n.870-4444T>A
c.2719A>T (p.Asn907Tyr)
c.2362A>T (p.Asn788Tyr)
2g.166272644T>CCA349073860SCN1A-AS1,SCN9Ac.3106A>G (p.Asn1036Asp)
c.106A>G (p.Asn36Asp)
c.3073A>G (p.Asn1025Asp)
c.1877-146A>G
n.870-4444T>C
c.2719A>G (p.Asn907Asp)
c.2362A>G (p.Asn788Asp)
2g.166272644T>GCA349073864SCN1A-AS1,SCN9Ac.3106A>C (p.Asn1036His)
c.106A>C (p.Asn36His)
c.3073A>C (p.Asn1025His)
c.1877-146A>C
n.870-4444T>G
c.2719A>C (p.Asn907His)
c.2362A>C (p.Asn788His)
2g.166272645T>ACA349073868SCN1A-AS1,SCN9Ac.3105A>T (p.Glu1035Asp)
c.105A>T (p.Glu35Asp)
c.3072A>T (p.Glu1024Asp)
c.1877-147A>T
n.870-4443T>A
c.2718A>T (p.Glu906Asp)
c.2361A>T (p.Glu787Asp)
2g.166272645T>CCA429977874SCN1A-AS1,SCN9Ac.3105A>G (p.Glu1035=)
c.105A>G (p.Glu35=)
c.3072A>G (p.Glu1024=)
c.1877-147A>G
n.870-4443T>C
c.2718A>G (p.Glu906=)
c.2361A>G (p.Glu787=)
2g.166272645T>GCA349073877SCN1A-AS1,SCN9Ac.3105A>C (p.Glu1035Asp)
c.105A>C (p.Glu35Asp)
c.3072A>C (p.Glu1024Asp)
c.1877-147A>C
n.870-4443T>G
c.2718A>C (p.Glu906Asp)
c.2361A>C (p.Glu787Asp)
2g.166272645_166272646insCCA2661766688SCN1A-AS1,SCN9Ac.3104_3105insG (p.Asn1036LysfsTer5)
c.104_105insG (p.Asn36LysfsTer5)
c.3071_3072insG (p.Asn1025LysfsTer5)
c.1877-148_1877-147insG
n.870-4443_870-4442insC
c.2717_2718insG (p.Asn907LysfsTer5)
c.2360_2361insG (p.Asn788LysfsTer5)
 gnomAD v4
2g.166272646T>ACA349073880SCN1A-AS1,SCN9Ac.3104A>T (p.Glu1035Val)
c.104A>T (p.Glu35Val)
c.3071A>T (p.Glu1024Val)
c.1877-148A>T
n.870-4442T>A
c.2717A>T (p.Glu906Val)
c.2360A>T (p.Glu787Val)
 COSMIC COSMIC
2g.166272646T>CCA349073883SCN1A-AS1,SCN9Ac.3104A>G (p.Glu1035Gly)
c.104A>G (p.Glu35Gly)
c.3071A>G (p.Glu1024Gly)
c.1877-148A>G
n.870-4442T>C
c.2717A>G (p.Glu906Gly)
c.2360A>G (p.Glu787Gly)
 gnomAD v4
2g.166272646T>GCA349073887SCN1A-AS1,SCN9Ac.3104A>C (p.Glu1035Ala)
c.104A>C (p.Glu35Ala)
c.3071A>C (p.Glu1024Ala)
c.1877-148A>C
n.870-4442T>G
c.2717A>C (p.Glu906Ala)
c.2360A>C (p.Glu787Ala)
2g.166272647C>ACA1944136SCN1A-AS1,SCN9Ac.3103G>T (p.Glu1035Ter)
c.103G>T (p.Glu35Ter)
c.3070G>T (p.Glu1024Ter)
c.1877-149G>T
n.870-4441C>A
c.2716G>T (p.Glu906Ter)
c.2359G>T (p.Glu787Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272647C=CA1304962796SCN1A-AS1,SCN9Ac.3103G= (p.Glu1035=)
c.103G= (p.Glu35=)
c.3070G= (p.Glu1024=)
c.1877-149G=
n.870-4441C=
c.2716G= (p.Glu906=)
c.2359G= (p.Glu787=)
2g.166272647C>GCA349073891SCN1A-AS1,SCN9Ac.3103G>C (p.Glu1035Gln)
c.103G>C (p.Glu35Gln)
c.3070G>C (p.Glu1024Gln)
c.1877-149G>C
n.870-4441C>G
c.2716G>C (p.Glu906Gln)
c.2359G>C (p.Glu787Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.166272647C>TCA349073894SCN1A-AS1,SCN9Ac.3103G>A (p.Glu1035Lys)
c.103G>A (p.Glu35Lys)
c.3070G>A (p.Glu1024Lys)
c.1877-149G>A
n.870-4441C>T
c.2716G>A (p.Glu906Lys)
c.2359G>A (p.Glu787Lys)
 gnomAD v4 COSMIC COSMIC
2g.166272648C>ACA349073903SCN1A-AS1,SCN9Ac.3102G>T (p.Lys1034Asn)
c.102G>T (p.Lys34Asn)
c.3069G>T (p.Lys1023Asn)
c.1877-150G>T
n.870-4440C>A
c.2715G>T (p.Lys905Asn)
c.2358G>T (p.Lys786Asn)
2g.166272648C=CA1304962797SCN1A-AS1,SCN9Ac.3102G= (p.Lys1034=)
c.102G= (p.Lys34=)
c.3069G= (p.Lys1023=)
c.1877-150G=
n.870-4440C=
c.2715G= (p.Lys905=)
c.2358G= (p.Lys786=)
2g.166272648C>GCA349073906SCN1A-AS1,SCN9Ac.3102G>C (p.Lys1034Asn)
c.102G>C (p.Lys34Asn)
c.3069G>C (p.Lys1023Asn)
c.1877-150G>C
n.870-4440C>G
c.2715G>C (p.Lys905Asn)
c.2358G>C (p.Lys786Asn)
2g.166272648C>TCA1944137SCN1A-AS1,SCN9Ac.3102G>A (p.Lys1034=)
c.102G>A (p.Lys34=)
c.3069G>A (p.Lys1023=)
c.1877-150G>A
n.870-4440C>T
c.2715G>A (p.Lys905=)
c.2358G>A (p.Lys786=)
 ClinVar dbSNP ExAC gnomAD v2
2g.166272649T>ACA349073908SCN1A-AS1,SCN9Ac.3101A>T (p.Lys1034Met)
c.101A>T (p.Lys34Met)
c.3068A>T (p.Lys1023Met)
c.1877-151A>T
n.870-4439T>A
c.2714A>T (p.Lys905Met)
c.2357A>T (p.Lys786Met)
 dbSNP
2g.166272649T>CCA349073909SCN1A-AS1,SCN9Ac.3101A>G (p.Lys1034Arg)
c.101A>G (p.Lys34Arg)
c.3068A>G (p.Lys1023Arg)
c.1877-151A>G
n.870-4439T>C
c.2714A>G (p.Lys905Arg)
c.2357A>G (p.Lys786Arg)
2g.166272649T>GCA349073910SCN1A-AS1,SCN9Ac.3101A>C (p.Lys1034Thr)
c.101A>C (p.Lys34Thr)
c.3068A>C (p.Lys1023Thr)
c.1877-151A>C
n.870-4439T>G
c.2714A>C (p.Lys905Thr)
c.2357A>C (p.Lys786Thr)
2g.166272649T=CA1304962798SCN1A-AS1,SCN9Ac.3101A= (p.Lys1034=)
c.101A= (p.Lys34=)
c.3068A= (p.Lys1023=)
c.1877-151A=
n.870-4439T=
c.2714A= (p.Lys905=)
c.2357A= (p.Lys786=)
2g.166272650T>ACA349073911SCN1A-AS1,SCN9Ac.3100A>T (p.Lys1034Ter)
c.100A>T (p.Lys34Ter)
c.3067A>T (p.Lys1023Ter)
c.1877-152A>T
n.870-4438T>A
c.2713A>T (p.Lys905Ter)
c.2356A>T (p.Lys786Ter)
 dbSNP
2g.166272650T>CCA349073912SCN1A-AS1,SCN9Ac.3100A>G (p.Lys1034Glu)
c.100A>G (p.Lys34Glu)
c.3067A>G (p.Lys1023Glu)
c.1877-152A>G
n.870-4438T>C
c.2713A>G (p.Lys905Glu)
c.2356A>G (p.Lys786Glu)
2g.166272650T>GCA349073914SCN1A-AS1,SCN9Ac.3100A>C (p.Lys1034Gln)
c.100A>C (p.Lys34Gln)
c.3067A>C (p.Lys1023Gln)
c.1877-152A>C
n.870-4438T>G
c.2713A>C (p.Lys905Gln)
c.2356A>C (p.Lys786Gln)
2g.166272650T=CA1304962799SCN1A-AS1,SCN9Ac.3100A= (p.Lys1034=)
c.100A= (p.Lys34=)
c.3067A= (p.Lys1023=)
c.1877-152A=
n.870-4438T=
c.2713A= (p.Lys905=)
c.2356A= (p.Lys786=)
2g.166272651C>ACA349073916SCN1A-AS1,SCN9Ac.3099G>T (p.Lys1033Asn)
c.99G>T (p.Lys33Asn)
c.3066G>T (p.Lys1022Asn)
c.1877-153G>T
n.870-4437C>A
c.2712G>T (p.Lys904Asn)
c.2355G>T (p.Lys785Asn)
2g.166272651C>GCA349073918SCN1A-AS1,SCN9Ac.3099G>C (p.Lys1033Asn)
c.99G>C (p.Lys33Asn)
c.3066G>C (p.Lys1022Asn)
c.1877-153G>C
n.870-4437C>G
c.2712G>C (p.Lys904Asn)
c.2355G>C (p.Lys785Asn)
2g.166272651C>TCA429977880SCN1A-AS1,SCN9Ac.3099G>A (p.Lys1033=)
c.99G>A (p.Lys33=)
c.3066G>A (p.Lys1022=)
c.1877-153G>A
n.870-4437C>T
c.2712G>A (p.Lys904=)
c.2355G>A (p.Lys785=)
2g.166272652T>ACA349073919SCN1A-AS1,SCN9Ac.3098A>T (p.Lys1033Met)
c.98A>T (p.Lys33Met)
c.3065A>T (p.Lys1022Met)
c.1877-154A>T
n.870-4436T>A
c.2711A>T (p.Lys904Met)
c.2354A>T (p.Lys785Met)
2g.166272652T>CCA349073920SCN1A-AS1,SCN9Ac.3098A>G (p.Lys1033Arg)
c.98A>G (p.Lys33Arg)
c.3065A>G (p.Lys1022Arg)
c.1877-154A>G
n.870-4436T>C
c.2711A>G (p.Lys904Arg)
c.2354A>G (p.Lys785Arg)
 ClinVar
2g.166272652T>GCA349073922SCN1A-AS1,SCN9Ac.3098A>C (p.Lys1033Thr)
c.98A>C (p.Lys33Thr)
c.3065A>C (p.Lys1022Thr)
c.1877-154A>C
n.870-4436T>G
c.2711A>C (p.Lys904Thr)
c.2354A>C (p.Lys785Thr)
2g.166272653T>ACA349073926SCN1A-AS1,SCN9Ac.3097A>T (p.Lys1033Ter)
c.97A>T (p.Lys33Ter)
c.3064A>T (p.Lys1022Ter)
c.1877-155A>T
n.870-4435T>A
c.2710A>T (p.Lys904Ter)
c.2353A>T (p.Lys785Ter)
 dbSNP
2g.166272653T>CCA349073927SCN1A-AS1,SCN9Ac.3097A>G (p.Lys1033Glu)
c.97A>G (p.Lys33Glu)
c.3064A>G (p.Lys1022Glu)
c.1877-155A>G
n.870-4435T>C
c.2710A>G (p.Lys904Glu)
c.2353A>G (p.Lys785Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.166272653T>GCA349073924SCN1A-AS1,SCN9Ac.3097A>C (p.Lys1033Gln)
c.97A>C (p.Lys33Gln)
c.3064A>C (p.Lys1022Gln)
c.1877-155A>C
n.870-4435T>G
c.2710A>C (p.Lys904Gln)
c.2353A>C (p.Lys785Gln)
2g.166272653T=CA1304962800SCN1A-AS1,SCN9Ac.3097A= (p.Lys1033=)
c.97A= (p.Lys33=)
c.3064A= (p.Lys1022=)
c.1877-155A=
n.870-4435T=
c.2710A= (p.Lys904=)
c.2353A= (p.Lys785=)
2g.166272654delCA2573133701SCN1A-AS1,SCN9Ac.3096del (p.Lys1033ArgfsTer14)
c.96del (p.Lys33ArgfsTer14)
c.3063del (p.Lys1022ArgfsTer14)
c.1877-156del
n.870-4434del
c.2709del (p.Lys904ArgfsTer14)
c.2352del (p.Lys785ArgfsTer14)
 ClinVar dbSNP
2g.166272654A>CCA429977885SCN1A-AS1,SCN9Ac.3096T>G (p.Thr1032=)
c.96T>G (p.Thr32=)
c.3063T>G (p.Thr1021=)
c.1877-156T>G
n.870-4434A>C
c.2709T>G (p.Thr903=)
c.2352T>G (p.Thr784=)
 ClinVar
2g.166272654A>GCA429977886SCN1A-AS1,SCN9Ac.3096T>C (p.Thr1032=)
c.96T>C (p.Thr32=)
c.3063T>C (p.Thr1021=)
c.1877-156T>C
n.870-4434A>G
c.2709T>C (p.Thr903=)
c.2352T>C (p.Thr784=)
2g.166272654A>TCA429977887SCN1A-AS1,SCN9Ac.3096T>A (p.Thr1032=)
c.96T>A (p.Thr32=)
c.3063T>A (p.Thr1021=)
c.1877-156T>A
n.870-4434A>T
c.2709T>A (p.Thr903=)
c.2352T>A (p.Thr784=)
2g.166272655G>ACA349073928SCN1A-AS1,SCN9Ac.3095C>T (p.Thr1032Ile)
c.95C>T (p.Thr32Ile)
c.3062C>T (p.Thr1021Ile)
c.1877-157C>T
n.870-4433G>A
c.2708C>T (p.Thr903Ile)
c.2351C>T (p.Thr784Ile)
 gnomAD v4
2g.166272655G>CCA349073930SCN1A-AS1,SCN9Ac.3095C>G (p.Thr1032Ser)
c.95C>G (p.Thr32Ser)
c.3062C>G (p.Thr1021Ser)
c.1877-157C>G
n.870-4433G>C
c.2708C>G (p.Thr903Ser)
c.2351C>G (p.Thr784Ser)
 gnomAD v4
2g.166272655G>TCA349073931SCN1A-AS1,SCN9Ac.3095C>A (p.Thr1032Asn)
c.95C>A (p.Thr32Asn)
c.3062C>A (p.Thr1021Asn)
c.1877-157C>A
n.870-4433G>T
c.2708C>A (p.Thr903Asn)
c.2351C>A (p.Thr784Asn)
2g.166272656T>ACA349073933SCN1A-AS1,SCN9Ac.3094A>T (p.Thr1032Ser)
c.94A>T (p.Thr32Ser)
c.3061A>T (p.Thr1021Ser)
c.1877-158A>T
n.870-4432T>A
c.2707A>T (p.Thr903Ser)
c.2350A>T (p.Thr784Ser)
 gnomAD v4
2g.166272656T>CCA349073935SCN1A-AS1,SCN9Ac.3094A>G (p.Thr1032Ala)
c.94A>G (p.Thr32Ala)
c.3061A>G (p.Thr1021Ala)
c.1877-158A>G
n.870-4432T>C
c.2707A>G (p.Thr903Ala)
c.2350A>G (p.Thr784Ala)
2g.166272656T>GCA349073937SCN1A-AS1,SCN9Ac.3094A>C (p.Thr1032Pro)
c.94A>C (p.Thr32Pro)
c.3061A>C (p.Thr1021Pro)
c.1877-158A>C
n.870-4432T>G
c.2707A>C (p.Thr903Pro)
c.2350A>C (p.Thr784Pro)
2g.166272657A>CCA349073941SCN1A-AS1,SCN9Ac.3093T>G (p.Asn1031Lys)
c.93T>G (p.Asn31Lys)
c.3060T>G (p.Asn1020Lys)
c.1877-159T>G
n.870-4431A>C
c.2706T>G (p.Asn902Lys)
c.2349T>G (p.Asn783Lys)
2g.166272657A>GCA429977889SCN1A-AS1,SCN9Ac.3093T>C (p.Asn1031=)
c.93T>C (p.Asn31=)
c.3060T>C (p.Asn1020=)
c.1877-159T>C
n.870-4431A>G
c.2706T>C (p.Asn902=)
c.2349T>C (p.Asn783=)
2g.166272657A>TCA349073939SCN1A-AS1,SCN9Ac.3093T>A (p.Asn1031Lys)
c.93T>A (p.Asn31Lys)
c.3060T>A (p.Asn1020Lys)
c.1877-159T>A
n.870-4431A>T
c.2706T>A (p.Asn902Lys)
c.2349T>A (p.Asn783Lys)
2g.166272658T>ACA349073943SCN1A-AS1,SCN9Ac.3092A>T (p.Asn1031Ile)
c.92A>T (p.Asn31Ile)
c.3059A>T (p.Asn1020Ile)
c.1877-160A>T
n.870-4430T>A
c.2705A>T (p.Asn902Ile)
c.2348A>T (p.Asn783Ile)
2g.166272658T>CCA349073945SCN1A-AS1,SCN9Ac.3092A>G (p.Asn1031Ser)
c.92A>G (p.Asn31Ser)
c.3059A>G (p.Asn1020Ser)
c.1877-160A>G
n.870-4430T>C
c.2705A>G (p.Asn902Ser)
c.2348A>G (p.Asn783Ser)
2g.166272658T>GCA349073947SCN1A-AS1,SCN9Ac.3092A>C (p.Asn1031Thr)
c.92A>C (p.Asn31Thr)
c.3059A>C (p.Asn1020Thr)
c.1877-160A>C
n.870-4430T>G
c.2705A>C (p.Asn902Thr)
c.2348A>C (p.Asn783Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.166272658T=CA1304962801SCN1A-AS1,SCN9Ac.3092A= (p.Asn1031=)
c.92A= (p.Asn31=)
c.3059A= (p.Asn1020=)
c.1877-160A=
n.870-4430T=
c.2705A= (p.Asn902=)
c.2348A= (p.Asn783=)
2g.166272659T>ACA349073949SCN1A-AS1,SCN9Ac.3091A>T (p.Asn1031Tyr)
c.91A>T (p.Asn31Tyr)
c.3058A>T (p.Asn1020Tyr)
c.1877-161A>T
n.870-4429T>A
c.2704A>T (p.Asn902Tyr)
c.2347A>T (p.Asn783Tyr)
2g.166272659T>CCA349073951SCN1A-AS1,SCN9Ac.3091A>G (p.Asn1031Asp)
c.91A>G (p.Asn31Asp)
c.3058A>G (p.Asn1020Asp)
c.1877-161A>G
n.870-4429T>C
c.2704A>G (p.Asn902Asp)
c.2347A>G (p.Asn783Asp)
2g.166272659T>GCA349073953SCN1A-AS1,SCN9Ac.3091A>C (p.Asn1031His)
c.91A>C (p.Asn31His)
c.3058A>C (p.Asn1020His)
c.1877-161A>C
n.870-4429T>G
c.2704A>C (p.Asn902His)
c.2347A>C (p.Asn783His)
 COSMIC COSMIC
2g.166272660C>ACA429977894SCN1A-AS1,SCN9Ac.3090G>T (p.Leu1030=)
c.90G>T (p.Leu30=)
c.3057G>T (p.Leu1019=)
c.1877-162G>T
n.870-4428C>A
c.2703G>T (p.Leu901=)
c.2346G>T (p.Leu782=)
2g.166272660C>GCA429977896SCN1A-AS1,SCN9Ac.3090G>C (p.Leu1030=)
c.90G>C (p.Leu30=)
c.3057G>C (p.Leu1019=)
c.1877-162G>C
n.870-4428C>G
c.2703G>C (p.Leu901=)
c.2346G>C (p.Leu782=)
2g.166272660C>TCA429977897SCN1A-AS1,SCN9Ac.3090G>A (p.Leu1030=)
c.90G>A (p.Leu30=)
c.3057G>A (p.Leu1019=)
c.1877-162G>A
n.870-4428C>T
c.2703G>A (p.Leu901=)
c.2346G>A (p.Leu782=)
 COSMIC COSMIC
2g.166272661A=CA1304962802SCN1A-AS1,SCN9Ac.3089T= (p.Leu1030=)
c.89T= (p.Leu30=)
c.3056T= (p.Leu1019=)
c.1877-163T=
n.870-4427A=
c.2702T= (p.Leu901=)
c.2345T= (p.Leu782=)
2g.166272661A>CCA349073955SCN1A-AS1,SCN9Ac.3089T>G (p.Leu1030Arg)
c.89T>G (p.Leu30Arg)
c.3056T>G (p.Leu1019Arg)
c.1877-163T>G
n.870-4427A>C
c.2702T>G (p.Leu901Arg)
c.2345T>G (p.Leu782Arg)
2g.166272661A>GCA1944138SCN1A-AS1,SCN9Ac.3089T>C (p.Leu1030Pro)
c.89T>C (p.Leu30Pro)
c.3056T>C (p.Leu1019Pro)
c.1877-163T>C
n.870-4427A>G
c.2702T>C (p.Leu901Pro)
c.2345T>C (p.Leu782Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272661A>TCA349073957SCN1A-AS1,SCN9Ac.3089T>A (p.Leu1030Gln)
c.89T>A (p.Leu30Gln)
c.3056T>A (p.Leu1019Gln)
c.1877-163T>A
n.870-4427A>T
c.2702T>A (p.Leu901Gln)
c.2345T>A (p.Leu782Gln)
2g.166272662G>ACA59791558SCN1A-AS1,SCN9Ac.3088C>T (p.Leu1030=)
c.88C>T (p.Leu30=)
c.3055C>T (p.Leu1019=)
c.1877-164C>T
n.870-4426G>A
c.2701C>T (p.Leu901=)
c.2344C>T (p.Leu782=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272662G>CCA349073960SCN1A-AS1,SCN9Ac.3088C>G (p.Leu1030Val)
c.88C>G (p.Leu30Val)
c.3055C>G (p.Leu1019Val)
c.1877-164C>G
n.870-4426G>C
c.2701C>G (p.Leu901Val)
c.2344C>G (p.Leu782Val)
2g.166272662G=CA1304962803SCN1A-AS1,SCN9Ac.3088C= (p.Leu1030=)
c.88C= (p.Leu30=)
c.3055C= (p.Leu1019=)
c.1877-164C=
n.870-4426G=
c.2701C= (p.Leu901=)
c.2344C= (p.Leu782=)
2g.166272662G>TCA349073961SCN1A-AS1,SCN9Ac.3088C>A (p.Leu1030Met)
c.88C>A (p.Leu30Met)
c.3055C>A (p.Leu1019Met)
c.1877-164C>A
n.870-4426G>T
c.2701C>A (p.Leu901Met)
c.2344C>A (p.Leu782Met)
2g.166272663A>CCA349073963SCN1A-AS1,SCN9Ac.3087T>G (p.Asp1029Glu)
c.87T>G (p.Asp29Glu)
c.3054T>G (p.Asp1018Glu)
c.1877-165T>G
n.870-4425A>C
c.2700T>G (p.Asp900Glu)
c.2343T>G (p.Asp781Glu)
2g.166272663A>GCA429977899SCN1A-AS1,SCN9Ac.3087T>C (p.Asp1029=)
c.87T>C (p.Asp29=)
c.3054T>C (p.Asp1018=)
c.1877-165T>C
n.870-4425A>G
c.2700T>C (p.Asp900=)
c.2343T>C (p.Asp781=)
2g.166272663A>TCA349073965SCN1A-AS1,SCN9Ac.3087T>A (p.Asp1029Glu)
c.87T>A (p.Asp29Glu)
c.3054T>A (p.Asp1018Glu)
c.1877-165T>A
n.870-4425A>T
c.2700T>A (p.Asp900Glu)
c.2343T>A (p.Asp781Glu)
2g.166272664T>ACA349073966SCN1A-AS1,SCN9Ac.3086A>T (p.Asp1029Val)
c.86A>T (p.Asp29Val)
c.3053A>T (p.Asp1018Val)
c.1877-166A>T
n.870-4424T>A
c.2699A>T (p.Asp900Val)
c.2342A>T (p.Asp781Val)
2g.166272664T>CCA349073967SCN1A-AS1,SCN9Ac.3086A>G (p.Asp1029Gly)
c.86A>G (p.Asp29Gly)
c.3053A>G (p.Asp1018Gly)
c.1877-166A>G
n.870-4424T>C
c.2699A>G (p.Asp900Gly)
c.2342A>G (p.Asp781Gly)
2g.166272664T>GCA349073968SCN1A-AS1,SCN9Ac.3086A>C (p.Asp1029Ala)
c.86A>C (p.Asp29Ala)
c.3053A>C (p.Asp1018Ala)
c.1877-166A>C
n.870-4424T>G
c.2699A>C (p.Asp900Ala)
c.2342A>C (p.Asp781Ala)
2g.166272665C>ACA349073971SCN1A-AS1,SCN9Ac.3085G>T (p.Asp1029Tyr)
c.85G>T (p.Asp29Tyr)
c.3052G>T (p.Asp1018Tyr)
c.1877-167G>T
n.870-4423C>A
c.2698G>T (p.Asp900Tyr)
c.2341G>T (p.Asp781Tyr)
 ClinVar dbSNP
2g.166272665C>GCA349073973SCN1A-AS1,SCN9Ac.3085G>C (p.Asp1029His)
c.85G>C (p.Asp29His)
c.3052G>C (p.Asp1018His)
c.1877-167G>C
n.870-4423C>G
c.2698G>C (p.Asp900His)
c.2341G>C (p.Asp781His)
2g.166272665C>TCA349073974SCN1A-AS1,SCN9Ac.3085G>A (p.Asp1029Asn)
c.85G>A (p.Asp29Asn)
c.3052G>A (p.Asp1018Asn)
c.1877-167G>A
n.870-4423C>T
c.2698G>A (p.Asp900Asn)
c.2341G>A (p.Asp781Asn)
 gnomAD v4
2g.166272666T>ACA349073975SCN1A-AS1,SCN9Ac.3084A>T (p.Glu1028Asp)
c.84A>T (p.Glu28Asp)
c.3051A>T (p.Glu1017Asp)
c.1877-168A>T
n.870-4422T>A
c.2697A>T (p.Glu899Asp)
c.2340A>T (p.Glu780Asp)
2g.166272666T>CCA429977900SCN1A-AS1,SCN9Ac.3084A>G (p.Glu1028=)
c.84A>G (p.Glu28=)
c.3051A>G (p.Glu1017=)
c.1877-168A>G
n.870-4422T>C
c.2697A>G (p.Glu899=)
c.2340A>G (p.Glu780=)
 ClinVar gnomAD v4
2g.166272666T>GCA349073977SCN1A-AS1,SCN9Ac.3084A>C (p.Glu1028Asp)
c.84A>C (p.Glu28Asp)
c.3051A>C (p.Glu1017Asp)
c.1877-168A>C
n.870-4422T>G
c.2697A>C (p.Glu899Asp)
c.2340A>C (p.Glu780Asp)
 gnomAD v4
2g.166272667T>ACA349073980SCN1A-AS1,SCN9Ac.3083A>T (p.Glu1028Val)
c.83A>T (p.Glu28Val)
c.3050A>T (p.Glu1017Val)
c.1877-169A>T
n.870-4421T>A
c.2696A>T (p.Glu899Val)
c.2339A>T (p.Glu780Val)
2g.166272667T>CCA349073982SCN1A-AS1,SCN9Ac.3083A>G (p.Glu1028Gly)
c.83A>G (p.Glu28Gly)
c.3050A>G (p.Glu1017Gly)
c.1877-169A>G
n.870-4421T>C
c.2696A>G (p.Glu899Gly)
c.2339A>G (p.Glu780Gly)
2g.166272667T>GCA349073979SCN1A-AS1,SCN9Ac.3083A>C (p.Glu1028Ala)
c.83A>C (p.Glu28Ala)
c.3050A>C (p.Glu1017Ala)
c.1877-169A>C
n.870-4421T>G
c.2696A>C (p.Glu899Ala)
c.2339A>C (p.Glu780Ala)
2g.166272668C>ACA349073984SCN1A-AS1,SCN9Ac.3082G>T (p.Glu1028Ter)
c.82G>T (p.Glu28Ter)
c.3049G>T (p.Glu1017Ter)
c.1877-170G>T
n.870-4420C>A
c.2695G>T (p.Glu899Ter)
c.2338G>T (p.Glu780Ter)
 dbSNP
2g.166272668C=CA1304962804SCN1A-AS1,SCN9Ac.3082G= (p.Glu1028=)
c.82G= (p.Glu28=)
c.3049G= (p.Glu1017=)
c.1877-170G=
n.870-4420C=
c.2695G= (p.Glu899=)
c.2338G= (p.Glu780=)
2g.166272668C>GCA349073991SCN1A-AS1,SCN9Ac.3082G>C (p.Glu1028Gln)
c.82G>C (p.Glu28Gln)
c.3049G>C (p.Glu1017Gln)
c.1877-170G>C
n.870-4420C>G
c.2695G>C (p.Glu899Gln)
c.2338G>C (p.Glu780Gln)
2g.166272668C>TCA349073986SCN1A-AS1,SCN9Ac.3082G>A (p.Glu1028Lys)
c.82G>A (p.Glu28Lys)
c.3049G>A (p.Glu1017Lys)
c.1877-170G>A
n.870-4420C>T
c.2695G>A (p.Glu899Lys)
c.2338G>A (p.Glu780Lys)
 ClinVar
2g.166272669T>ACA429977905SCN1A-AS1,SCN9Ac.3081A>T (p.Ala1027=)
c.81A>T (p.Ala27=)
c.3048A>T (p.Ala1016=)
c.1877-171A>T
n.870-4419T>A
c.2694A>T (p.Ala898=)
c.2337A>T (p.Ala779=)
2g.166272669T>CCA429977907SCN1A-AS1,SCN9Ac.3081A>G (p.Ala1027=)
c.81A>G (p.Ala27=)
c.3048A>G (p.Ala1016=)
c.1877-171A>G
n.870-4419T>C
c.2694A>G (p.Ala898=)
c.2337A>G (p.Ala779=)
 COSMIC
2g.166272669T>GCA1944139SCN1A-AS1,SCN9Ac.3081A>C (p.Ala1027=)
c.81A>C (p.Ala27=)
c.3048A>C (p.Ala1016=)
c.1877-171A>C
n.870-4419T>G
c.2694A>C (p.Ala898=)
c.2337A>C (p.Ala779=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272669T=CA1304962805SCN1A-AS1,SCN9Ac.3081A= (p.Ala1027=)
c.81A= (p.Ala27=)
c.3048A= (p.Ala1016=)
c.1877-171A=
n.870-4419T=
c.2694A= (p.Ala898=)
c.2337A= (p.Ala779=)
2g.166272670G>ACA349074002SCN1A-AS1,SCN9Ac.3080C>T (p.Ala1027Val)
c.80C>T (p.Ala27Val)
c.3047C>T (p.Ala1016Val)
c.1877-172C>T
n.870-4418G>A
c.2693C>T (p.Ala898Val)
c.2336C>T (p.Ala779Val)
 ClinVar dbSNP gnomAD v4
2g.166272670G>CCA349073996SCN1A-AS1,SCN9Ac.3080C>G (p.Ala1027Gly)
c.80C>G (p.Ala27Gly)
c.3047C>G (p.Ala1016Gly)
c.1877-172C>G
n.870-4418G>C
c.2693C>G (p.Ala898Gly)
c.2336C>G (p.Ala779Gly)
 ClinVar dbSNP gnomAD v4
2g.166272670G=CA1304962806SCN1A-AS1,SCN9Ac.3080C= (p.Ala1027=)
c.80C= (p.Ala27=)
c.3047C= (p.Ala1016=)
c.1877-172C=
n.870-4418G=
c.2693C= (p.Ala898=)
c.2336C= (p.Ala779=)
2g.166272670G>TCA349073999SCN1A-AS1,SCN9Ac.3080C>A (p.Ala1027Glu)
c.80C>A (p.Ala27Glu)
c.3047C>A (p.Ala1016Glu)
c.1877-172C>A
n.870-4418G>T
c.2693C>A (p.Ala898Glu)
c.2336C>A (p.Ala779Glu)
 ClinVar dbSNP
2g.166272671C>ACA349074004SCN1A-AS1,SCN9Ac.3079G>T (p.Ala1027Ser)
c.79G>T (p.Ala27Ser)
c.3046G>T (p.Ala1016Ser)
c.1877-173G>T
n.870-4417C>A
c.2692G>T (p.Ala898Ser)
c.2335G>T (p.Ala779Ser)
2g.166272671C>GCA349074009SCN1A-AS1,SCN9Ac.3079G>C (p.Ala1027Pro)
c.79G>C (p.Ala27Pro)
c.3046G>C (p.Ala1016Pro)
c.1877-173G>C
n.870-4417C>G
c.2692G>C (p.Ala898Pro)
c.2335G>C (p.Ala779Pro)
2g.166272671C>TCA349074012SCN1A-AS1,SCN9Ac.3079G>A (p.Ala1027Thr)
c.79G>A (p.Ala27Thr)
c.3046G>A (p.Ala1016Thr)
c.1877-173G>A
n.870-4417C>T
c.2692G>A (p.Ala898Thr)
c.2335G>A (p.Ala779Thr)
2g.166272672T>ACA349074014SCN1A-AS1,SCN9Ac.3078A>T (p.Gln1026His)
c.78A>T (p.Gln26His)
c.3045A>T (p.Gln1015His)
c.1877-174A>T
n.870-4416T>A
c.2691A>T (p.Gln897His)
c.2334A>T (p.Gln778His)
2g.166272672T>CCA429977911SCN1A-AS1,SCN9Ac.3078A>G (p.Gln1026=)
c.78A>G (p.Gln26=)
c.3045A>G (p.Gln1015=)
c.1877-174A>G
n.870-4416T>C
c.2691A>G (p.Gln897=)
c.2334A>G (p.Gln778=)
2g.166272672T>GCA349074015SCN1A-AS1,SCN9Ac.3078A>C (p.Gln1026His)
c.78A>C (p.Gln26His)
c.3045A>C (p.Gln1015His)
c.1877-174A>C
n.870-4416T>G
c.2691A>C (p.Gln897His)
c.2334A>C (p.Gln778His)
2g.166272673T>ACA349074017SCN1A-AS1,SCN9Ac.3077A>T (p.Gln1026Leu)
c.77A>T (p.Gln26Leu)
c.3044A>T (p.Gln1015Leu)
c.1877-175A>T
n.870-4415T>A
c.2690A>T (p.Gln897Leu)
c.2333A>T (p.Gln778Leu)
2g.166272673T>CCA349074020SCN1A-AS1,SCN9Ac.3077A>G (p.Gln1026Arg)
c.77A>G (p.Gln26Arg)
c.3044A>G (p.Gln1015Arg)
c.1877-175A>G
n.870-4415T>C
c.2690A>G (p.Gln897Arg)
c.2333A>G (p.Gln778Arg)
2g.166272673T>GCA349074021SCN1A-AS1,SCN9Ac.3077A>C (p.Gln1026Pro)
c.77A>C (p.Gln26Pro)
c.3044A>C (p.Gln1015Pro)
c.1877-175A>C
n.870-4415T>G
c.2690A>C (p.Gln897Pro)
c.2333A>C (p.Gln778Pro)
 ClinVar gnomAD v4
2g.166272674G>ACA349074025SCN1A-AS1,SCN9Ac.3076C>T (p.Gln1026Ter)
c.76C>T (p.Gln26Ter)
c.3043C>T (p.Gln1015Ter)
c.1877-176C>T
n.870-4414G>A
c.2689C>T (p.Gln897Ter)
c.2332C>T (p.Gln778Ter)
 dbSNP
2g.166272674G>CCA349074028SCN1A-AS1,SCN9Ac.3076C>G (p.Gln1026Glu)
c.76C>G (p.Gln26Glu)
c.3043C>G (p.Gln1015Glu)
c.1877-176C>G
n.870-4414G>C
c.2689C>G (p.Gln897Glu)
c.2332C>G (p.Gln778Glu)
 gnomAD v4
2g.166272674G=CA1304962807SCN1A-AS1,SCN9Ac.3076C= (p.Gln1026=)
c.76C= (p.Gln26=)
c.3043C= (p.Gln1015=)
c.1877-176C=
n.870-4414G=
c.2689C= (p.Gln897=)
c.2332C= (p.Gln778=)
2g.166272674G>TCA349074032SCN1A-AS1,SCN9Ac.3076C>A (p.Gln1026Lys)
c.76C>A (p.Gln26Lys)
c.3043C>A (p.Gln1015Lys)
c.1877-176C>A
n.870-4414G>T
c.2689C>A (p.Gln897Lys)
c.2332C>A (p.Gln778Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272675T>ACA1944140SCN1A-AS1,SCN9Ac.3075A>T (p.Arg1025Ser)
c.75A>T (p.Arg25Ser)
c.3042A>T (p.Arg1014Ser)
c.1877-177A>T
n.870-4413T>A
c.2688A>T (p.Arg896Ser)
c.2331A>T (p.Arg777Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272675T>CCA429977921SCN1A-AS1,SCN9Ac.3075A>G (p.Arg1025=)
c.75A>G (p.Arg25=)
c.3042A>G (p.Arg1014=)
c.1877-177A>G
n.870-4413T>C
c.2688A>G (p.Arg896=)
c.2331A>G (p.Arg777=)
2g.166272675T>GCA349074038SCN1A-AS1,SCN9Ac.3075A>C (p.Arg1025Ser)
c.75A>C (p.Arg25Ser)
c.3042A>C (p.Arg1014Ser)
c.1877-177A>C
n.870-4413T>G
c.2688A>C (p.Arg896Ser)
c.2331A>C (p.Arg777Ser)
2g.166272675T=CA1304962808SCN1A-AS1,SCN9Ac.3075A= (p.Arg1025=)
c.75A= (p.Arg25=)
c.3042A= (p.Arg1014=)
c.1877-177A=
n.870-4413T=
c.2688A= (p.Arg896=)
c.2331A= (p.Arg777=)
2g.166272676C>ACA1944141SCN1A-AS1,SCN9Ac.3074G>T (p.Arg1025Ile)
c.74G>T (p.Arg25Ile)
c.3041G>T (p.Arg1014Ile)
c.1877-178G>T
n.870-4412C>A
c.2687G>T (p.Arg896Ile)
c.2330G>T (p.Arg777Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272676C=CA1304962809SCN1A-AS1,SCN9Ac.3074G= (p.Arg1025=)
c.74G= (p.Arg25=)
c.3041G= (p.Arg1014=)
c.1877-178G=
n.870-4412C=
c.2687G= (p.Arg896=)
c.2330G= (p.Arg777=)
2g.166272676C>GCA349074043SCN1A-AS1,SCN9Ac.3074G>C (p.Arg1025Thr)
c.74G>C (p.Arg25Thr)
c.3041G>C (p.Arg1014Thr)
c.1877-178G>C
n.870-4412C>G
c.2687G>C (p.Arg896Thr)
c.2330G>C (p.Arg777Thr)
2g.166272676C>TCA349074046SCN1A-AS1,SCN9Ac.3074G>A (p.Arg1025Lys)
c.74G>A (p.Arg25Lys)
c.3041G>A (p.Arg1014Lys)
c.1877-178G>A
n.870-4412C>T
c.2687G>A (p.Arg896Lys)
c.2330G>A (p.Arg777Lys)
2g.166272677T>ACA349074049SCN1A-AS1,SCN9Ac.3073A>T (p.Arg1025Ter)
c.73A>T (p.Arg25Ter)
c.3040A>T (p.Arg1014Ter)
c.1877-179A>T
n.870-4411T>A
c.2686A>T (p.Arg896Ter)
c.2329A>T (p.Arg777Ter)
 dbSNP
2g.166272677T>CCA349074052SCN1A-AS1,SCN9Ac.3073A>G (p.Arg1025Gly)
c.73A>G (p.Arg25Gly)
c.3040A>G (p.Arg1014Gly)
c.1877-179A>G
n.870-4411T>C
c.2686A>G (p.Arg896Gly)
c.2329A>G (p.Arg777Gly)
2g.166272677T>GCA429977922SCN1A-AS1,SCN9Ac.3073A>C (p.Arg1025=)
c.73A>C (p.Arg25=)
c.3040A>C (p.Arg1014=)
c.1877-179A>C
n.870-4411T>G
c.2686A>C (p.Arg896=)
c.2329A>C (p.Arg777=)
2g.166272677T=CA1304962810SCN1A-AS1,SCN9Ac.3073A= (p.Arg1025=)
c.73A= (p.Arg25=)
c.3040A= (p.Arg1014=)
c.1877-179A=
n.870-4411T=
c.2686A= (p.Arg896=)
c.2329A= (p.Arg777=)
2g.166272678T>ACA429977925SCN1A-AS1,SCN9Ac.3072A>T (p.Ile1024=)
c.72A>T (p.Ile24=)
c.3039A>T (p.Ile1013=)
c.1877-180A>T
n.870-4410T>A
c.2685A>T (p.Ile895=)
c.2328A>T (p.Ile776=)
2g.166272678T>CCA1944142SCN1A-AS1,SCN9Ac.3072A>G (p.Ile1024Met)
c.72A>G (p.Ile24Met)
c.3039A>G (p.Ile1013Met)
c.1877-180A>G
n.870-4410T>C
c.2685A>G (p.Ile895Met)
c.2328A>G (p.Ile776Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272678T>GCA429977926SCN1A-AS1,SCN9Ac.3072A>C (p.Ile1024=)
c.72A>C (p.Ile24=)
c.3039A>C (p.Ile1013=)
c.1877-180A>C
n.870-4410T>G
c.2685A>C (p.Ile895=)
c.2328A>C (p.Ile776=)
2g.166272678T=CA1304962811SCN1A-AS1,SCN9Ac.3072A= (p.Ile1024=)
c.72A= (p.Ile24=)
c.3039A= (p.Ile1013=)
c.1877-180A=
n.870-4410T=
c.2685A= (p.Ile895=)
c.2328A= (p.Ile776=)
2g.166272679A>CCA349074057SCN1A-AS1,SCN9Ac.3071T>G (p.Ile1024Arg)
c.71T>G (p.Ile24Arg)
c.3038T>G (p.Ile1013Arg)
c.1877-181T>G
n.870-4409A>C
c.2684T>G (p.Ile895Arg)
c.2327T>G (p.Ile776Arg)
2g.166272679A>GCA349074059SCN1A-AS1,SCN9Ac.3071T>C (p.Ile1024Thr)
c.71T>C (p.Ile24Thr)
c.3038T>C (p.Ile1013Thr)
c.1877-181T>C
n.870-4409A>G
c.2684T>C (p.Ile895Thr)
c.2327T>C (p.Ile776Thr)
2g.166272679A>TCA349074061SCN1A-AS1,SCN9Ac.3071T>A (p.Ile1024Lys)
c.71T>A (p.Ile24Lys)
c.3038T>A (p.Ile1013Lys)
c.1877-181T>A
n.870-4409A>T
c.2684T>A (p.Ile895Lys)
c.2327T>A (p.Ile776Lys)
2g.166272680T>ACA349074066SCN1A-AS1,SCN9Ac.3070A>T (p.Ile1024Leu)
c.70A>T (p.Ile24Leu)
c.3037A>T (p.Ile1013Leu)
c.1877-182A>T
n.870-4408T>A
c.2683A>T (p.Ile895Leu)
c.2326A>T (p.Ile776Leu)
2g.166272680T>CCA349074068SCN1A-AS1,SCN9Ac.3070A>G (p.Ile1024Val)
c.70A>G (p.Ile24Val)
c.3037A>G (p.Ile1013Val)
c.1877-182A>G
n.870-4408T>C
c.2683A>G (p.Ile895Val)
c.2326A>G (p.Ile776Val)
2g.166272680T>GCA349074072SCN1A-AS1,SCN9Ac.3070A>C (p.Ile1024Leu)
c.70A>C (p.Ile24Leu)
c.3037A>C (p.Ile1013Leu)
c.1877-182A>C
n.870-4408T>G
c.2683A>C (p.Ile895Leu)
c.2326A>C (p.Ile776Leu)
 dbSNP
2g.166272680T=CA1304962812SCN1A-AS1,SCN9Ac.3070A= (p.Ile1024=)
c.70A= (p.Ile24=)
c.3037A= (p.Ile1013=)
c.1877-182A=
n.870-4408T=
c.2683A= (p.Ile895=)
c.2326A= (p.Ile776=)
2g.166272681C>ACA349074076SCN1A-AS1,SCN9Ac.3069G>T (p.Glu1023Asp)
c.69G>T (p.Glu23Asp)
c.3036G>T (p.Glu1012Asp)
c.1877-183G>T
n.870-4407C>A
c.2682G>T (p.Glu894Asp)
c.2325G>T (p.Glu775Asp)
2g.166272681C=CA1304962813SCN1A-AS1,SCN9Ac.3069G= (p.Glu1023=)
c.69G= (p.Glu23=)
c.3036G= (p.Glu1012=)
c.1877-183G=
n.870-4407C=
c.2682G= (p.Glu894=)
c.2325G= (p.Glu775=)
2g.166272681C>GCA349074079SCN1A-AS1,SCN9Ac.3069G>C (p.Glu1023Asp)
c.69G>C (p.Glu23Asp)
c.3036G>C (p.Glu1012Asp)
c.1877-183G>C
n.870-4407C>G
c.2682G>C (p.Glu894Asp)
c.2325G>C (p.Glu775Asp)
2g.166272681C>TCA429977930SCN1A-AS1,SCN9Ac.3069G>A (p.Glu1023=)
c.69G>A (p.Glu23=)
c.3036G>A (p.Glu1012=)
c.1877-183G>A
n.870-4407C>T
c.2682G>A (p.Glu894=)
c.2325G>A (p.Glu775=)
 dbSNP

Number of alleles fetched