Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166233357T>ACA349066349SCN1A-AS1,SCN9Ac.3907A>T (p.Arg1303Ter)
c.3769-4385A>T (n.3769-4385A>T)
c.3874A>T (p.Arg1292Ter)
n.612-14838T>A
c.3520A>T (p.Arg1174Ter)
c.3163A>T (p.Arg1055Ter)
 dbSNP
2g.166233357T>CCA349066348SCN1A-AS1,SCN9Ac.3907A>G (p.Arg1303Gly)
c.3769-4385A>G (n.3769-4385A>G)
c.3874A>G (p.Arg1292Gly)
n.612-14838T>C
c.3520A>G (p.Arg1174Gly)
c.3163A>G (p.Arg1055Gly)
 gnomAD v4
2g.166233357T>GCA429900404SCN1A-AS1,SCN9Ac.3907A>C (p.Arg1303=)
c.3769-4385A>C (n.3769-4385A>C)
c.3874A>C (p.Arg1292=)
n.612-14838T>G
c.3520A>C (p.Arg1174=)
c.3163A>C (p.Arg1055=)
2g.166233357T=CA1304946691SCN1A-AS1,SCN9Ac.3907A= (p.Arg1303=)
c.3769-4385A= (n.3769-4385A=)
c.3874A= (p.Arg1292=)
n.612-14838T=
c.3520A= (p.Arg1174=)
c.3163A= (p.Arg1055=)
2g.166233358A>CCA429900407SCN1A-AS1,SCN9Ac.3906T>G (p.Ser1302=)
c.3769-4386T>G (n.3769-4386T>G)
c.3873T>G (p.Ser1291=)
n.612-14837A>C
c.3519T>G (p.Ser1173=)
c.3162T>G (p.Ser1054=)
2g.166233358A>GCA429900414SCN1A-AS1,SCN9Ac.3906T>C (p.Ser1302=)
c.3769-4386T>C (n.3769-4386T>C)
c.3873T>C (p.Ser1291=)
n.612-14837A>G
c.3519T>C (p.Ser1173=)
c.3162T>C (p.Ser1054=)
 gnomAD v4
2g.166233358A>TCA429900412SCN1A-AS1,SCN9Ac.3906T>A (p.Ser1302=)
c.3769-4386T>A (n.3769-4386T>A)
c.3873T>A (p.Ser1291=)
n.612-14837A>T
c.3519T>A (p.Ser1173=)
c.3162T>A (p.Ser1054=)
2g.166233359_166233360delCA2577144869SCN1A-AS1,SCN9Ac.3905_3906del (p.Ser1302Ter)
c.3769-4387_3769-4386del (n.3769-4387_3769-4386del)
c.3872_3873del (p.Ser1291Ter)
n.612-14836_612-14835del
c.3518_3519del (p.Ser1173Ter)
c.3161_3162del (p.Ser1054Ter)
2g.166233359G>ACA349066355SCN1A-AS1,SCN9Ac.3905C>T (p.Ser1302Phe)
c.3769-4387C>T (n.3769-4387C>T)
c.3872C>T (p.Ser1291Phe)
n.612-14836G>A
c.3518C>T (p.Ser1173Phe)
c.3161C>T (p.Ser1054Phe)
2g.166233359G>CCA349066352SCN1A-AS1,SCN9Ac.3905C>G (p.Ser1302Cys)
c.3769-4387C>G (n.3769-4387C>G)
c.3872C>G (p.Ser1291Cys)
n.612-14836G>C
c.3518C>G (p.Ser1173Cys)
c.3161C>G (p.Ser1054Cys)
2g.166233359G>TCA349066354SCN1A-AS1,SCN9Ac.3905C>A (p.Ser1302Tyr)
c.3769-4387C>A (n.3769-4387C>A)
c.3872C>A (p.Ser1291Tyr)
n.612-14836G>T
c.3518C>A (p.Ser1173Tyr)
c.3161C>A (p.Ser1054Tyr)
 gnomAD v4
2g.166233360A=CA1304946694SCN1A-AS1,SCN9Ac.3904T= (p.Ser1302=)
c.3769-4388T= (n.3769-4388T=)
c.3871T= (p.Ser1291=)
n.612-14835A=
c.3517T= (p.Ser1173=)
c.3160T= (p.Ser1054=)
2g.166233360A>CCA349066357SCN1A-AS1,SCN9Ac.3904T>G (p.Ser1302Ala)
c.3769-4388T>G (n.3769-4388T>G)
c.3871T>G (p.Ser1291Ala)
n.612-14835A>C
c.3517T>G (p.Ser1173Ala)
c.3160T>G (p.Ser1054Ala)
2g.166233360A>GCA349066359SCN1A-AS1,SCN9Ac.3904T>C (p.Ser1302Pro)
c.3769-4388T>C (n.3769-4388T>C)
c.3871T>C (p.Ser1291Pro)
n.612-14835A>G
c.3517T>C (p.Ser1173Pro)
c.3160T>C (p.Ser1054Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166233360A>TCA349066361SCN1A-AS1,SCN9Ac.3904T>A (p.Ser1302Thr)
c.3769-4388T>A (n.3769-4388T>A)
c.3871T>A (p.Ser1291Thr)
n.612-14835A>T
c.3517T>A (p.Ser1173Thr)
c.3160T>A (p.Ser1054Thr)
 dbSNP
2g.166233361T>ACA349066363SCN1A-AS1,SCN9Ac.3903A>T (p.Leu1301Phe)
c.3769-4389A>T (n.3769-4389A>T)
c.3870A>T (p.Leu1290Phe)
n.612-14834T>A
c.3516A>T (p.Leu1172Phe)
c.3159A>T (p.Leu1053Phe)
2g.166233361T>CCA1943984SCN1A-AS1,SCN9Ac.3903A>G (p.Leu1301=)
c.3769-4389A>G (n.3769-4389A>G)
c.3870A>G (p.Leu1290=)
n.612-14834T>C
c.3516A>G (p.Leu1172=)
c.3159A>G (p.Leu1053=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166233361T>GCA349066367SCN1A-AS1,SCN9Ac.3903A>C (p.Leu1301Phe)
c.3769-4389A>C (n.3769-4389A>C)
c.3870A>C (p.Leu1290Phe)
n.612-14834T>G
c.3516A>C (p.Leu1172Phe)
c.3159A>C (p.Leu1053Phe)
2g.166233361T=CA1304946699SCN1A-AS1,SCN9Ac.3903A= (p.Leu1301=)
c.3769-4389A= (n.3769-4389A=)
c.3870A= (p.Leu1290=)
n.612-14834T=
c.3516A= (p.Leu1172=)
c.3159A= (p.Leu1053=)
2g.166233362A>CCA349066370SCN1A-AS1,SCN9Ac.3902T>G (p.Leu1301Ter)
c.3769-4390T>G (n.3769-4390T>G)
c.3869T>G (p.Leu1290Ter)
n.612-14833A>C
c.3515T>G (p.Leu1172Ter)
c.3158T>G (p.Leu1053Ter)
2g.166233362A>GCA349066372SCN1A-AS1,SCN9Ac.3902T>C (p.Leu1301Ser)
c.3769-4390T>C (n.3769-4390T>C)
c.3869T>C (p.Leu1290Ser)
n.612-14833A>G
c.3515T>C (p.Leu1172Ser)
c.3158T>C (p.Leu1053Ser)
 gnomAD v4
2g.166233362A>TCA349066374SCN1A-AS1,SCN9Ac.3902T>A (p.Leu1301Ter)
c.3769-4390T>A (n.3769-4390T>A)
c.3869T>A (p.Leu1290Ter)
n.612-14833A>T
c.3515T>A (p.Leu1172Ter)
c.3158T>A (p.Leu1053Ter)
2g.166233363A>CCA349066376SCN1A-AS1,SCN9Ac.3901T>G (p.Leu1301Val)
c.3769-4391T>G (n.3769-4391T>G)
c.3868T>G (p.Leu1290Val)
n.612-14832A>C
c.3514T>G (p.Leu1172Val)
c.3157T>G (p.Leu1053Val)
2g.166233363A>GCA429900423SCN1A-AS1,SCN9Ac.3901T>C (p.Leu1301=)
c.3769-4391T>C (n.3769-4391T>C)
c.3868T>C (p.Leu1290=)
n.612-14832A>G
c.3514T>C (p.Leu1172=)
c.3157T>C (p.Leu1053=)
2g.166233363A>TCA349066378SCN1A-AS1,SCN9Ac.3901T>A (p.Leu1301Ile)
c.3769-4391T>A (n.3769-4391T>A)
c.3868T>A (p.Leu1290Ile)
n.612-14832A>T
c.3514T>A (p.Leu1172Ile)
c.3157T>A (p.Leu1053Ile)
2g.166233364G>ACA429900425SCN1A-AS1,SCN9Ac.3900C>T (p.Ala1300=)
c.3769-4392C>T (n.3769-4392C>T)
c.3867C>T (p.Ala1289=)
n.612-14831G>A
c.3513C>T (p.Ala1171=)
c.3156C>T (p.Ala1052=)
2g.166233364G>CCA429900427SCN1A-AS1,SCN9Ac.3900C>G (p.Ala1300=)
c.3769-4392C>G (n.3769-4392C>G)
c.3867C>G (p.Ala1289=)
n.612-14831G>C
c.3513C>G (p.Ala1171=)
c.3156C>G (p.Ala1052=)
2g.166233364G>TCA429900428SCN1A-AS1,SCN9Ac.3900C>A (p.Ala1300=)
c.3769-4392C>A (n.3769-4392C>A)
c.3867C>A (p.Ala1289=)
n.612-14831G>T
c.3513C>A (p.Ala1171=)
c.3156C>A (p.Ala1052=)
 gnomAD v4
2g.166233365G>ACA349066383SCN1A-AS1,SCN9Ac.3899C>T (p.Ala1300Val)
c.3769-4393C>T (n.3769-4393C>T)
c.3866C>T (p.Ala1289Val)
n.612-14830G>A
c.3512C>T (p.Ala1171Val)
c.3155C>T (p.Ala1052Val)
 gnomAD v4
2g.166233365G>CCA349066381SCN1A-AS1,SCN9Ac.3899C>G (p.Ala1300Gly)
c.3769-4393C>G (n.3769-4393C>G)
c.3866C>G (p.Ala1289Gly)
n.612-14830G>C
c.3512C>G (p.Ala1171Gly)
c.3155C>G (p.Ala1052Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.166233365G=CA1304946703SCN1A-AS1,SCN9Ac.3899C= (p.Ala1300=)
c.3769-4393C= (n.3769-4393C=)
c.3866C= (p.Ala1289=)
n.612-14830G=
c.3512C= (p.Ala1171=)
c.3155C= (p.Ala1052=)
2g.166233365G>TCA349066382SCN1A-AS1,SCN9Ac.3899C>A (p.Ala1300Asp)
c.3769-4393C>A (n.3769-4393C>A)
c.3866C>A (p.Ala1289Asp)
n.612-14830G>T
c.3512C>A (p.Ala1171Asp)
c.3155C>A (p.Ala1052Asp)
 gnomAD v4
2g.166233366C>ACA349066385SCN1A-AS1,SCN9Ac.3898G>T (p.Ala1300Ser)
c.3769-4394G>T (n.3769-4394G>T)
c.3865G>T (p.Ala1289Ser)
n.612-14829C>A
c.3511G>T (p.Ala1171Ser)
c.3154G>T (p.Ala1052Ser)
 gnomAD v4
2g.166233366C=CA1304946707SCN1A-AS1,SCN9Ac.3898G= (p.Ala1300=)
c.3769-4394G= (n.3769-4394G=)
c.3865G= (p.Ala1289=)
n.612-14829C=
c.3511G= (p.Ala1171=)
c.3154G= (p.Ala1052=)
2g.166233366C>GCA349066387SCN1A-AS1,SCN9Ac.3898G>C (p.Ala1300Pro)
c.3769-4394G>C (n.3769-4394G>C)
c.3865G>C (p.Ala1289Pro)
n.612-14829C>G
c.3511G>C (p.Ala1171Pro)
c.3154G>C (p.Ala1052Pro)
2g.166233366C>TCA349066388SCN1A-AS1,SCN9Ac.3898G>A (p.Ala1300Thr)
c.3769-4394G>A (n.3769-4394G>A)
c.3865G>A (p.Ala1289Thr)
n.612-14829C>T
c.3511G>A (p.Ala1171Thr)
c.3154G>A (p.Ala1052Thr)
 ClinVar dbSNP gnomAD v4
2g.166233368_166233369delCA2661765695SCN1A-AS1,SCN9Ac.3897_3898del (p.Arg1299SerfsTer4)
c.3769-4395_3769-4394del (n.3769-4395_3769-4394del)
c.3864_3865del (p.Arg1288SerfsTer4)
n.612-14827_612-14826del
c.3510_3511del (p.Arg1170SerfsTer4)
c.3153_3154del (p.Arg1051SerfsTer4)
 gnomAD v4
2g.166233367T>ACA349066390SCN1A-AS1,SCN9Ac.3897A>T (p.Arg1299Ser)
c.3769-4395A>T (n.3769-4395A>T)
c.3864A>T (p.Arg1288Ser)
n.612-14828T>A
c.3510A>T (p.Arg1170Ser)
c.3153A>T (p.Arg1051Ser)
2g.166233367T>CCA429900436SCN1A-AS1,SCN9Ac.3897A>G (p.Arg1299=)
c.3769-4395A>G (n.3769-4395A>G)
c.3864A>G (p.Arg1288=)
n.612-14828T>C
c.3510A>G (p.Arg1170=)
c.3153A>G (p.Arg1051=)
 dbSNP gnomAD v3 gnomAD v4
2g.166233367T>GCA349066392SCN1A-AS1,SCN9Ac.3897A>C (p.Arg1299Ser)
c.3769-4395A>C (n.3769-4395A>C)
c.3864A>C (p.Arg1288Ser)
n.612-14828T>G
c.3510A>C (p.Arg1170Ser)
c.3153A>C (p.Arg1051Ser)
2g.166233367T=CA1304946712SCN1A-AS1,SCN9Ac.3897A= (p.Arg1299=)
c.3769-4395A= (n.3769-4395A=)
c.3864A= (p.Arg1288=)
n.612-14828T=
c.3510A= (p.Arg1170=)
c.3153A= (p.Arg1051=)
2g.166233368C>ACA349066394SCN1A-AS1,SCN9Ac.3896G>T (p.Arg1299Ile)
c.3769-4396G>T (n.3769-4396G>T)
c.3863G>T (p.Arg1288Ile)
n.612-14827C>A
c.3509G>T (p.Arg1170Ile)
c.3152G>T (p.Arg1051Ile)
2g.166233368C=CA1304946715SCN1A-AS1,SCN9Ac.3896G= (p.Arg1299=)
c.3769-4396G= (n.3769-4396G=)
c.3863G= (p.Arg1288=)
n.612-14827C=
c.3509G= (p.Arg1170=)
c.3152G= (p.Arg1051=)
2g.166233368C>GCA349066396SCN1A-AS1,SCN9Ac.3896G>C (p.Arg1299Thr)
c.3769-4396G>C (n.3769-4396G>C)
c.3863G>C (p.Arg1288Thr)
n.612-14827C>G
c.3509G>C (p.Arg1170Thr)
c.3152G>C (p.Arg1051Thr)
2g.166233368C>TCA1943985SCN1A-AS1,SCN9Ac.3896G>A (p.Arg1299Lys)
c.3769-4396G>A (n.3769-4396G>A)
c.3863G>A (p.Arg1288Lys)
n.612-14827C>T
c.3509G>A (p.Arg1170Lys)
c.3152G>A (p.Arg1051Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166233369T>ACA349066398SCN1A-AS1,SCN9Ac.3895A>T (p.Arg1299Ter)
c.3769-4397A>T (n.3769-4397A>T)
c.3862A>T (p.Arg1288Ter)
n.612-14826T>A
c.3508A>T (p.Arg1170Ter)
c.3151A>T (p.Arg1051Ter)
 dbSNP
2g.166233369T>CCA349066399SCN1A-AS1,SCN9Ac.3895A>G (p.Arg1299Gly)
c.3769-4397A>G (n.3769-4397A>G)
c.3862A>G (p.Arg1288Gly)
n.612-14826T>C
c.3508A>G (p.Arg1170Gly)
c.3151A>G (p.Arg1051Gly)
 ClinVar dbSNP
2g.166233369T>GCA429900444SCN1A-AS1,SCN9Ac.3895A>C (p.Arg1299=)
c.3769-4397A>C (n.3769-4397A>C)
c.3862A>C (p.Arg1288=)
n.612-14826T>G
c.3508A>C (p.Arg1170=)
c.3151A>C (p.Arg1051=)
2g.166233369T=CA1304946724SCN1A-AS1,SCN9Ac.3895A= (p.Arg1299=)
c.3769-4397A= (n.3769-4397A=)
c.3862A= (p.Arg1288=)
n.612-14826T=
c.3508A= (p.Arg1170=)
c.3151A= (p.Arg1051=)
2g.166233370delCA2661765696SCN1A-AS1,SCN9Ac.3895del (p.Arg1299GlufsTer9)
c.3769-4397del (n.3769-4397del)
c.3862del (p.Arg1288GlufsTer9)
n.612-14825del
c.3508del (p.Arg1170GlufsTer9)
c.3151del (p.Arg1051GlufsTer9)
 gnomAD v4

Number of alleles fetched