Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166272723A>CCA349074388SCN1A-AS1,SCN9Ac.3027T>G (p.Phe1009Leu)
c.27T>G (p.Phe9Leu)
c.2994T>G (p.Phe998Leu)
c.1877-225T>G
n.870-4365A>C
c.2640T>G (p.Phe880Leu)
c.2283T>G (p.Phe761Leu)
2g.166272723A>GCA429977990SCN1A-AS1,SCN9Ac.3027T>C (p.Phe1009=)
c.27T>C (p.Phe9=)
c.2994T>C (p.Phe998=)
c.1877-225T>C
n.870-4365A>G
c.2640T>C (p.Phe880=)
c.2283T>C (p.Phe761=)
 gnomAD v4
2g.166272723A>TCA349074389SCN1A-AS1,SCN9Ac.3027T>A (p.Phe1009Leu)
c.27T>A (p.Phe9Leu)
c.2994T>A (p.Phe998Leu)
c.1877-225T>A
n.870-4365A>T
c.2640T>A (p.Phe880Leu)
c.2283T>A (p.Phe761Leu)
2g.166272723_166272726delinsAAATCA1304962836SCN1A-AS1,SCN9Ac.3024_3027delinsATTT (p.Glu1008=)
c.24_27delinsATTT (p.Glu8=)
c.2991_2994delinsATTT (p.Glu997=)
c.1877-228_1877-225delinsATTT
n.870-4365_870-4362delinsAAAT
c.2637_2640delinsATTT (p.Glu879=)
c.2280_2283delinsATTT (p.Glu760=)
2g.166272724A>CCA349074391SCN1A-AS1,SCN9Ac.3026T>G (p.Phe1009Cys)
c.26T>G (p.Phe9Cys)
c.2993T>G (p.Phe998Cys)
c.1877-226T>G
n.870-4364A>C
c.2639T>G (p.Phe880Cys)
c.2282T>G (p.Phe761Cys)
 COSMIC COSMIC
2g.166272724A>GCA349074394SCN1A-AS1,SCN9Ac.3026T>C (p.Phe1009Ser)
c.26T>C (p.Phe9Ser)
c.2993T>C (p.Phe998Ser)
c.1877-226T>C
n.870-4364A>G
c.2639T>C (p.Phe880Ser)
c.2282T>C (p.Phe761Ser)
2g.166272724A>TCA349074396SCN1A-AS1,SCN9Ac.3026T>A (p.Phe1009Tyr)
c.26T>A (p.Phe9Tyr)
c.2993T>A (p.Phe998Tyr)
c.1877-226T>A
n.870-4364A>T
c.2639T>A (p.Phe880Tyr)
c.2282T>A (p.Phe761Tyr)
2g.166272724_166272726delCA760206943SCN1A-AS1,SCN9Ac.3024_3026del (p.Glu1008_Phe1009delinsAsp)
c.24_26del (p.Glu8_Phe9delinsAsp)
c.2991_2993del (p.Glu997_Phe998delinsAsp)
c.1877-228_1877-226del
n.870-4364_870-4362del
c.2637_2639del (p.Glu879_Phe880delinsAsp)
c.2280_2282del (p.Glu760_Phe761delinsAsp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272725A=CA1304962837SCN1A-AS1,SCN9Ac.3025T= (p.Phe1009=)
c.25T= (p.Phe9=)
c.2992T= (p.Phe998=)
c.1877-227T=
n.870-4363A=
c.2638T= (p.Phe880=)
c.2281T= (p.Phe761=)
2g.166272725A>CCA349074399SCN1A-AS1,SCN9Ac.3025T>G (p.Phe1009Val)
c.25T>G (p.Phe9Val)
c.2992T>G (p.Phe998Val)
c.1877-227T>G
n.870-4363A>C
c.2638T>G (p.Phe880Val)
c.2281T>G (p.Phe761Val)
2g.166272725A>GCA59791726SCN1A-AS1,SCN9Ac.3025T>C (p.Phe1009Leu)
c.25T>C (p.Phe9Leu)
c.2992T>C (p.Phe998Leu)
c.1877-227T>C
n.870-4363A>G
c.2638T>C (p.Phe880Leu)
c.2281T>C (p.Phe761Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272725A>TCA349074410SCN1A-AS1,SCN9Ac.3025T>A (p.Phe1009Ile)
c.25T>A (p.Phe9Ile)
c.2992T>A (p.Phe998Ile)
c.1877-227T>A
n.870-4363A>T
c.2638T>A (p.Phe880Ile)
c.2281T>A (p.Phe761Ile)
2g.166272725_166272726delinsATCA1304962838SCN1A-AS1,SCN9Ac.3024_3025delinsAT (p.Glu1008=)
c.24_25delinsAT (p.Glu8=)
c.2991_2992delinsAT (p.Glu997=)
c.1877-228_1877-227delinsAT
n.870-4363_870-4362delinsAT
c.2637_2638delinsAT (p.Glu879=)
c.2280_2281delinsAT (p.Glu760=)
2g.166272726T>ACA349074417SCN1A-AS1,SCN9Ac.3024A>T (p.Glu1008Asp)
c.24A>T (p.Glu8Asp)
c.2991A>T (p.Glu997Asp)
c.1877-228A>T
n.870-4362T>A
c.2637A>T (p.Glu879Asp)
c.2280A>T (p.Glu760Asp)
2g.166272726T>CCA429977993SCN1A-AS1,SCN9Ac.3024A>G (p.Glu1008=)
c.24A>G (p.Glu8=)
c.2991A>G (p.Glu997=)
c.1877-228A>G
n.870-4362T>C
c.2637A>G (p.Glu879=)
c.2280A>G (p.Glu760=)
2g.166272726T>GCA349074414SCN1A-AS1,SCN9Ac.3024A>C (p.Glu1008Asp)
c.24A>C (p.Glu8Asp)
c.2991A>C (p.Glu997Asp)
c.1877-228A>C
n.870-4362T>G
c.2637A>C (p.Glu879Asp)
c.2280A>C (p.Glu760Asp)
2g.166272727delCA760206950SCN1A-AS1,SCN9Ac.3024del (p.Glu1008AspfsTer4)
c.24del (p.Glu8AspfsTer4)
c.2991del (p.Glu997AspfsTer4)
c.1877-228del
n.870-4361del
c.2637del (p.Glu879AspfsTer4)
c.2280del (p.Glu760AspfsTer4)
 dbSNP gnomAD v3 gnomAD v4
2g.166272727T>ACA349074420SCN1A-AS1,SCN9Ac.3023A>T (p.Glu1008Val)
c.23A>T (p.Glu8Val)
c.2990A>T (p.Glu997Val)
c.1877-229A>T
n.870-4361T>A
c.2636A>T (p.Glu879Val)
c.2279A>T (p.Glu760Val)
2g.166272727T>CCA349074423SCN1A-AS1,SCN9Ac.3023A>G (p.Glu1008Gly)
c.23A>G (p.Glu8Gly)
c.2990A>G (p.Glu997Gly)
c.1877-229A>G
n.870-4361T>C
c.2636A>G (p.Glu879Gly)
c.2279A>G (p.Glu760Gly)
 gnomAD v4
2g.166272727T>GCA349074426SCN1A-AS1,SCN9Ac.3023A>C (p.Glu1008Ala)
c.23A>C (p.Glu8Ala)
c.2990A>C (p.Glu997Ala)
c.1877-229A>C
n.870-4361T>G
c.2636A>C (p.Glu879Ala)
c.2279A>C (p.Glu760Ala)
2g.166272728C>ACA349074430SCN1A-AS1,SCN9Ac.3022G>T (p.Glu1008Ter)
c.22G>T (p.Glu8Ter)
c.2989G>T (p.Glu997Ter)
c.1877-230G>T
n.870-4360C>A
c.2635G>T (p.Glu879Ter)
c.2278G>T (p.Glu760Ter)
 dbSNP gnomAD v4
2g.166272728C=CA1304962839SCN1A-AS1,SCN9Ac.3022G= (p.Glu1008=)
c.22G= (p.Glu8=)
c.2989G= (p.Glu997=)
c.1877-230G=
n.870-4360C=
c.2635G= (p.Glu879=)
c.2278G= (p.Glu760=)
2g.166272728C>GCA349074433SCN1A-AS1,SCN9Ac.3022G>C (p.Glu1008Gln)
c.22G>C (p.Glu8Gln)
c.2989G>C (p.Glu997Gln)
c.1877-230G>C
n.870-4360C>G
c.2635G>C (p.Glu879Gln)
c.2278G>C (p.Glu760Gln)
2g.166272728C>TCA349074435SCN1A-AS1,SCN9Ac.3022G>A (p.Glu1008Lys)
c.22G>A (p.Glu8Lys)
c.2989G>A (p.Glu997Lys)
c.1877-230G>A
n.870-4360C>T
c.2635G>A (p.Glu879Lys)
c.2278G>A (p.Glu760Lys)
2g.166272729A>CCA429977994SCN1A-AS1,SCN9Ac.3021T>G (p.Arg1007=)
c.21T>G (p.Arg7=)
c.2988T>G (p.Arg996=)
c.1877-231T>G
n.870-4359A>C
c.2634T>G (p.Arg878=)
c.2277T>G (p.Arg759=)
2g.166272729A>GCA429977996SCN1A-AS1,SCN9Ac.3021T>C (p.Arg1007=)
c.21T>C (p.Arg7=)
c.2988T>C (p.Arg996=)
c.1877-231T>C
n.870-4359A>G
c.2634T>C (p.Arg878=)
c.2277T>C (p.Arg759=)
2g.166272729A>TCA429977998SCN1A-AS1,SCN9Ac.3021T>A (p.Arg1007=)
c.21T>A (p.Arg7=)
c.2988T>A (p.Arg996=)
c.1877-231T>A
n.870-4359A>T
c.2634T>A (p.Arg878=)
c.2277T>A (p.Arg759=)
2g.166272730C>ACA349074441SCN1A-AS1,SCN9Ac.3020G>T (p.Arg1007Leu)
c.20G>T (p.Arg7Leu)
c.2987G>T (p.Arg996Leu)
c.1877-232G>T
n.870-4358C>A
c.2633G>T (p.Arg878Leu)
c.2276G>T (p.Arg759Leu)
2g.166272730C=CA1304962840SCN1A-AS1,SCN9Ac.3020G= (p.Arg1007=)
c.20G= (p.Arg7=)
c.2987G= (p.Arg996=)
c.1877-232G=
n.870-4358C=
c.2633G= (p.Arg878=)
c.2276G= (p.Arg759=)
2g.166272730C>GCA349074438SCN1A-AS1,SCN9Ac.3020G>C (p.Arg1007Pro)
c.20G>C (p.Arg7Pro)
c.2987G>C (p.Arg996Pro)
c.1877-232G>C
n.870-4358C>G
c.2633G>C (p.Arg878Pro)
c.2276G>C (p.Arg759Pro)
 dbSNP
2g.166272730C>TCA1944153SCN1A-AS1,SCN9Ac.3020G>A (p.Arg1007His)
c.20G>A (p.Arg7His)
c.2987G>A (p.Arg996His)
c.1877-232G>A
n.870-4358C>T
c.2633G>A (p.Arg878His)
c.2276G>A (p.Arg759His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272731G>ACA118140SCN1A-AS1,SCN9Ac.3019C>T (p.Arg1007Cys)
c.19C>T (p.Arg7Cys)
c.2986C>T (p.Arg996Cys)
c.1877-233C>T
n.870-4357G>A
c.2632C>T (p.Arg878Cys)
c.2275C>T (p.Arg759Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272731G>CCA1944154SCN1A-AS1,SCN9Ac.3019C>G (p.Arg1007Gly)
c.19C>G (p.Arg7Gly)
c.2986C>G (p.Arg996Gly)
c.1877-233C>G
n.870-4357G>C
c.2632C>G (p.Arg878Gly)
c.2275C>G (p.Arg759Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272731G=CA1304962841SCN1A-AS1,SCN9Ac.3019C= (p.Arg1007=)
c.19C= (p.Arg7=)
c.2986C= (p.Arg996=)
c.1877-233C=
n.870-4357G=
c.2632C= (p.Arg878=)
c.2275C= (p.Arg759=)
2g.166272731G>TCA349074448SCN1A-AS1,SCN9Ac.3019C>A (p.Arg1007Ser)
c.19C>A (p.Arg7Ser)
c.2986C>A (p.Arg996Ser)
c.1877-233C>A
n.870-4357G>T
c.2632C>A (p.Arg878Ser)
c.2275C>A (p.Arg759Ser)
2g.166272732T>ACA349074452SCN1A-AS1,SCN9Ac.3018A>T (p.Leu1006Phe)
c.18A>T (p.Leu6Phe)
c.2985A>T (p.Leu995Phe)
c.1877-234A>T
n.870-4356T>A
c.2631A>T (p.Leu877Phe)
c.2274A>T (p.Leu758Phe)
2g.166272732T>CCA429978002SCN1A-AS1,SCN9Ac.3018A>G (p.Leu1006=)
c.18A>G (p.Leu6=)
c.2985A>G (p.Leu995=)
c.1877-234A>G
n.870-4356T>C
c.2631A>G (p.Leu877=)
c.2274A>G (p.Leu758=)
2g.166272732T>GCA349074453SCN1A-AS1,SCN9Ac.3018A>C (p.Leu1006Phe)
c.18A>C (p.Leu6Phe)
c.2985A>C (p.Leu995Phe)
c.1877-234A>C
n.870-4356T>G
c.2631A>C (p.Leu877Phe)
c.2274A>C (p.Leu758Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.166272732T=CA1304962842SCN1A-AS1,SCN9Ac.3018A= (p.Leu1006=)
c.18A= (p.Leu6=)
c.2985A= (p.Leu995=)
c.1877-234A=
n.870-4356T=
c.2631A= (p.Leu877=)
c.2274A= (p.Leu758=)
2g.166272733A>CCA349074457SCN1A-AS1,SCN9Ac.3017T>G (p.Leu1006Ter)
c.17T>G (p.Leu6Ter)
c.2984T>G (p.Leu995Ter)
c.1877-235T>G
n.870-4355A>C
c.2630T>G (p.Leu877Ter)
c.2273T>G (p.Leu758Ter)
2g.166272733A>GCA349074460SCN1A-AS1,SCN9Ac.3017T>C (p.Leu1006Ser)
c.17T>C (p.Leu6Ser)
c.2984T>C (p.Leu995Ser)
c.1877-235T>C
n.870-4355A>G
c.2630T>C (p.Leu877Ser)
c.2273T>C (p.Leu758Ser)
2g.166272733A>TCA349074458SCN1A-AS1,SCN9Ac.3017T>A (p.Leu1006Ter)
c.17T>A (p.Leu6Ter)
c.2984T>A (p.Leu995Ter)
c.1877-235T>A
n.870-4355A>T
c.2630T>A (p.Leu877Ter)
c.2273T>A (p.Leu758Ter)
2g.166272734A>CCA349074461SCN1A-AS1,SCN9Ac.3016T>G (p.Leu1006Val)
c.16T>G (p.Leu6Val)
c.2983T>G (p.Leu995Val)
c.1877-236T>G
n.870-4354A>C
c.2629T>G (p.Leu877Val)
c.2272T>G (p.Leu758Val)
2g.166272734A>GCA429978005SCN1A-AS1,SCN9Ac.3016T>C (p.Leu1006=)
c.16T>C (p.Leu6=)
c.2983T>C (p.Leu995=)
c.1877-236T>C
n.870-4354A>G
c.2629T>C (p.Leu877=)
c.2272T>C (p.Leu758=)
2g.166272734A>TCA349074463SCN1A-AS1,SCN9Ac.3016T>A (p.Leu1006Ile)
c.16T>A (p.Leu6Ile)
c.2983T>A (p.Leu995Ile)
c.1877-236T>A
n.870-4354A>T
c.2629T>A (p.Leu877Ile)
c.2272T>A (p.Leu758Ile)
2g.166272735G>ACA429978009SCN1A-AS1,SCN9Ac.3015C>T (p.Thr1005=)
c.15C>T (p.Thr5=)
c.2982C>T (p.Thr994=)
c.1877-237C>T
n.870-4353G>A
c.2628C>T (p.Thr876=)
c.2271C>T (p.Thr757=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272735G>CCA429978010SCN1A-AS1,SCN9Ac.3015C>G (p.Thr1005=)
c.15C>G (p.Thr5=)
c.2982C>G (p.Thr994=)
c.1877-237C>G
n.870-4353G>C
c.2628C>G (p.Thr876=)
c.2271C>G (p.Thr757=)
2g.166272735G=CA1304962843SCN1A-AS1,SCN9Ac.3015C= (p.Thr1005=)
c.15C= (p.Thr5=)
c.2982C= (p.Thr994=)
c.1877-237C=
n.870-4353G=
c.2628C= (p.Thr876=)
c.2271C= (p.Thr757=)
2g.166272735G>TCA429978011SCN1A-AS1,SCN9Ac.3015C>A (p.Thr1005=)
c.15C>A (p.Thr5=)
c.2982C>A (p.Thr994=)
c.1877-237C>A
n.870-4353G>T
c.2628C>A (p.Thr876=)
c.2271C>A (p.Thr757=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272736G>ACA1944155SCN1A-AS1,SCN9Ac.3014C>T (p.Thr1005Ile)
c.14C>T (p.Thr5Ile)
c.2981C>T (p.Thr994Ile)
c.1877-238C>T
n.870-4352G>A
c.2627C>T (p.Thr876Ile)
c.2270C>T (p.Thr757Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272736G>CCA349074467SCN1A-AS1,SCN9Ac.3014C>G (p.Thr1005Ser)
c.14C>G (p.Thr5Ser)
c.2981C>G (p.Thr994Ser)
c.1877-238C>G
n.870-4352G>C
c.2627C>G (p.Thr876Ser)
c.2270C>G (p.Thr757Ser)
2g.166272736G=CA1304962844SCN1A-AS1,SCN9Ac.3014C= (p.Thr1005=)
c.14C= (p.Thr5=)
c.2981C= (p.Thr994=)
c.1877-238C=
n.870-4352G=
c.2627C= (p.Thr876=)
c.2270C= (p.Thr757=)
2g.166272736G>TCA59791754SCN1A-AS1,SCN9Ac.3014C>A (p.Thr1005Asn)
c.14C>A (p.Thr5Asn)
c.2981C>A (p.Thr994Asn)
c.1877-238C>A
n.870-4352G>T
c.2627C>A (p.Thr876Asn)
c.2270C>A (p.Thr757Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272737T>ACA349074469SCN1A-AS1,SCN9Ac.3013A>T (p.Thr1005Ser)
c.13A>T (p.Thr5Ser)
c.2980A>T (p.Thr994Ser)
c.1877-239A>T
n.870-4351T>A
c.2626A>T (p.Thr876Ser)
c.2269A>T (p.Thr757Ser)
2g.166272737T>CCA349074470SCN1A-AS1,SCN9Ac.3013A>G (p.Thr1005Ala)
c.13A>G (p.Thr5Ala)
c.2980A>G (p.Thr994Ala)
c.1877-239A>G
n.870-4351T>C
c.2626A>G (p.Thr876Ala)
c.2269A>G (p.Thr757Ala)
 ClinVar
2g.166272737T>GCA349074471SCN1A-AS1,SCN9Ac.3013A>C (p.Thr1005Pro)
c.13A>C (p.Thr5Pro)
c.2980A>C (p.Thr994Pro)
c.1877-239A>C
n.870-4351T>G
c.2626A>C (p.Thr876Pro)
c.2269A>C (p.Thr757Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.166272737T=CA1304962845SCN1A-AS1,SCN9Ac.3013A= (p.Thr1005=)
c.13A= (p.Thr5=)
c.2980A= (p.Thr994=)
c.1877-239A=
n.870-4351T=
c.2626A= (p.Thr876=)
c.2269A= (p.Thr757=)
2g.166272738T>ACA349074474SCN1A-AS1,SCN9Ac.3012A>T (p.Gln1004His)
c.12A>T (p.Gln4His)
c.2979A>T (p.Gln993His)
c.1877-240A>T
n.870-4350T>A
c.2625A>T (p.Gln875His)
c.2268A>T (p.Gln756His)
2g.166272738T>CCA429978015SCN1A-AS1,SCN9Ac.3012A>G (p.Gln1004=)
c.12A>G (p.Gln4=)
c.2979A>G (p.Gln993=)
c.1877-240A>G
n.870-4350T>C
c.2625A>G (p.Gln875=)
c.2268A>G (p.Gln756=)
2g.166272738T>GCA349074475SCN1A-AS1,SCN9Ac.3012A>C (p.Gln1004His)
c.12A>C (p.Gln4His)
c.2979A>C (p.Gln993His)
c.1877-240A>C
n.870-4350T>G
c.2625A>C (p.Gln875His)
c.2268A>C (p.Gln756His)
 dbSNP
2g.166272738T=CA1304962846SCN1A-AS1,SCN9Ac.3012A= (p.Gln1004=)
c.12A= (p.Gln4=)
c.2979A= (p.Gln993=)
c.1877-240A=
n.870-4350T=
c.2625A= (p.Gln875=)
c.2268A= (p.Gln756=)
2g.166272739T>ACA349074477SCN1A-AS1,SCN9Ac.3011A>T (p.Gln1004Leu)
c.11A>T (p.Gln4Leu)
c.2978A>T (p.Gln993Leu)
c.1877-241A>T
n.870-4349T>A
c.2624A>T (p.Gln875Leu)
c.2267A>T (p.Gln756Leu)
2g.166272739T>CCA349074479SCN1A-AS1,SCN9Ac.3011A>G (p.Gln1004Arg)
c.11A>G (p.Gln4Arg)
c.2978A>G (p.Gln993Arg)
c.1877-241A>G
n.870-4349T>C
c.2624A>G (p.Gln875Arg)
c.2267A>G (p.Gln756Arg)
2g.166272739T>GCA349074481SCN1A-AS1,SCN9Ac.3011A>C (p.Gln1004Pro)
c.11A>C (p.Gln4Pro)
c.2978A>C (p.Gln993Pro)
c.1877-241A>C
n.870-4349T>G
c.2624A>C (p.Gln875Pro)
c.2267A>C (p.Gln756Pro)
2g.166272740G>ACA349074486SCN1A-AS1,SCN9Ac.3010C>T (p.Gln1004Ter)
c.10C>T (p.Gln4Ter)
c.2977C>T (p.Gln993Ter)
c.1877-242C>T
n.870-4348G>A
c.2623C>T (p.Gln875Ter)
c.2266C>T (p.Gln756Ter)
 dbSNP
2g.166272740G>CCA1944156SCN1A-AS1,SCN9Ac.3010C>G (p.Gln1004Glu)
c.10C>G (p.Gln4Glu)
c.2977C>G (p.Gln993Glu)
c.1877-242C>G
n.870-4348G>C
c.2623C>G (p.Gln875Glu)
c.2266C>G (p.Gln756Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272740G=CA1304962847SCN1A-AS1,SCN9Ac.3010C= (p.Gln1004=)
c.10C= (p.Gln4=)
c.2977C= (p.Gln993=)
c.1877-242C=
n.870-4348G=
c.2623C= (p.Gln875=)
c.2266C= (p.Gln756=)
2g.166272740G>TCA349074484SCN1A-AS1,SCN9Ac.3010C>A (p.Gln1004Lys)
c.10C>A (p.Gln4Lys)
c.2977C>A (p.Gln993Lys)
c.1877-242C>A
n.870-4348G>T
c.2623C>A (p.Gln875Lys)
c.2266C>A (p.Gln756Lys)
2g.166272741T>ACA349074488SCN1A-AS1,SCN9Ac.3009A>T (p.Lys1003Asn)
c.9A>T (p.Lys3Asn)
c.2976A>T (p.Lys992Asn)
c.1877-243A>T
n.870-4347T>A
c.2622A>T (p.Lys874Asn)
c.2265A>T (p.Lys755Asn)
2g.166272741T>CCA429978021SCN1A-AS1,SCN9Ac.3009A>G (p.Lys1003=)
c.9A>G (p.Lys3=)
c.2976A>G (p.Lys992=)
c.1877-243A>G
n.870-4347T>C
c.2622A>G (p.Lys874=)
c.2265A>G (p.Lys755=)
 ClinVar dbSNP
2g.166272741T>GCA349074490SCN1A-AS1,SCN9Ac.3009A>C (p.Lys1003Asn)
c.9A>C (p.Lys3Asn)
c.2976A>C (p.Lys992Asn)
c.1877-243A>C
n.870-4347T>G
c.2622A>C (p.Lys874Asn)
c.2265A>C (p.Lys755Asn)
2g.166272742T>ACA349074492SCN1A-AS1,SCN9Ac.3008A>T (p.Lys1003Ile)
c.8A>T (p.Lys3Ile)
c.2975A>T (p.Lys992Ile)
c.1877-244A>T
n.870-4346T>A
c.2621A>T (p.Lys874Ile)
c.2264A>T (p.Lys755Ile)
2g.166272742T>CCA349074494SCN1A-AS1,SCN9Ac.3008A>G (p.Lys1003Arg)
c.8A>G (p.Lys3Arg)
c.2975A>G (p.Lys992Arg)
c.1877-244A>G
n.870-4346T>C
c.2621A>G (p.Lys874Arg)
c.2264A>G (p.Lys755Arg)
2g.166272742T>GCA349074495SCN1A-AS1,SCN9Ac.3008A>C (p.Lys1003Thr)
c.8A>C (p.Lys3Thr)
c.2975A>C (p.Lys992Thr)
c.1877-244A>C
n.870-4346T>G
c.2621A>C (p.Lys874Thr)
c.2264A>C (p.Lys755Thr)
2g.166272743T>ACA349074498SCN1A-AS1,SCN9Ac.3007A>T (p.Lys1003Ter)
c.7A>T (p.Lys3Ter)
c.2974A>T (p.Lys992Ter)
c.1877-245A>T
n.870-4345T>A
c.2620A>T (p.Lys874Ter)
c.2263A>T (p.Lys755Ter)
2g.166272743T>CCA1944157SCN1A-AS1,SCN9Ac.3007A>G (p.Lys1003Glu)
c.7A>G (p.Lys3Glu)
c.2974A>G (p.Lys992Glu)
c.1877-245A>G
n.870-4345T>C
c.2620A>G (p.Lys874Glu)
c.2263A>G (p.Lys755Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272743T>GCA349074500SCN1A-AS1,SCN9Ac.3007A>C (p.Lys1003Gln)
c.7A>C (p.Lys3Gln)
c.2974A>C (p.Lys992Gln)
c.1877-245A>C
n.870-4345T>G
c.2620A>C (p.Lys874Gln)
c.2263A>C (p.Lys755Gln)
2g.166272743T=CA1304962848SCN1A-AS1,SCN9Ac.3007A= (p.Lys1003=)
c.7A= (p.Lys3=)
c.2974A= (p.Lys992=)
c.1877-245A=
n.870-4345T=
c.2620A= (p.Lys874=)
c.2263A= (p.Lys755=)
2g.166272744C>ACA429978024SCN1A-AS1,SCN9Ac.3006G>T (p.Val1002=)
c.6G>T (p.Val2=)
c.2973G>T (p.Val991=)
c.1877-246G>T
n.870-4344C>A
c.2619G>T (p.Val873=)
c.2262G>T (p.Val754=)
 COSMIC
2g.166272744C>GCA429978025SCN1A-AS1,SCN9Ac.3006G>C (p.Val1002=)
c.6G>C (p.Val2=)
c.2973G>C (p.Val991=)
c.1877-246G>C
n.870-4344C>G
c.2619G>C (p.Val873=)
c.2262G>C (p.Val754=)
2g.166272744C>TCA429978027SCN1A-AS1,SCN9Ac.3006G>A (p.Val1002=)
c.6G>A (p.Val2=)
c.2973G>A (p.Val991=)
c.1877-246G>A
n.870-4344C>T
c.2619G>A (p.Val873=)
c.2262G>A (p.Val754=)
2g.166272745A>CCA349074502SCN1A-AS1,SCN9Ac.3005T>G (p.Val1002Gly)
c.5T>G (p.Val2Gly)
c.2972T>G (p.Val991Gly)
c.1877-247T>G
n.870-4343A>C
c.2618T>G (p.Val873Gly)
c.2261T>G (p.Val754Gly)
 dbSNP
2g.166272745A>GCA349074503SCN1A-AS1,SCN9Ac.3005T>C (p.Val1002Ala)
c.5T>C (p.Val2Ala)
c.2972T>C (p.Val991Ala)
c.1877-247T>C
n.870-4343A>G
c.2618T>C (p.Val873Ala)
c.2261T>C (p.Val754Ala)
 gnomAD v4
2g.166272745A>TCA349074505SCN1A-AS1,SCN9Ac.3005T>A (p.Val1002Glu)
c.5T>A (p.Val2Glu)
c.2972T>A (p.Val991Glu)
c.1877-247T>A
n.870-4343A>T
c.2618T>A (p.Val873Glu)
c.2261T>A (p.Val754Glu)
2g.166272746C>ACA147606SCN1A-AS1,SCN9Ac.3004G>T (p.Val1002Leu)
c.4G>T (p.Val2Leu)
c.2971G>T (p.Val991Leu)
c.1877-248G>T
n.870-4342C>A
c.2617G>T (p.Val873Leu)
c.2260G>T (p.Val754Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.[166272746C>A;166277030T>G]CA357867SCN1A-AS1,SCN9Ac.[2827A>C;3004G>T] (p.[Met943Leu;Val1002Leu])
c.[2794A>C;2971G>T] (p.[Met932Leu;Val991Leu])
c.[1829A>C;1877-248G>T]
n.[870-4342C>A;870-58T>G]
c.[2440A>C;2617G>T] (p.[Met814Leu;Val873Leu])
c.[2083A>C;2260G>T] (p.[Met695Leu;Val754Leu])
2g.166272746C=CA1304962849SCN1A-AS1,SCN9Ac.3004G= (p.Val1002=)
c.4G= (p.Val2=)
c.2971G= (p.Val991=)
c.1877-248G=
n.870-4342C=
c.2617G= (p.Val873=)
c.2260G= (p.Val754=)
2g.166272746C>GCA349074509SCN1A-AS1,SCN9Ac.3004G>C (p.Val1002Leu)
c.4G>C (p.Val2Leu)
c.2971G>C (p.Val991Leu)
c.1877-248G>C
n.870-4342C>G
c.2617G>C (p.Val873Leu)
c.2260G>C (p.Val754Leu)
2g.166272746C>TCA349074508SCN1A-AS1,SCN9Ac.3004G>A (p.Val1002Met)
c.4G>A (p.Val2Met)
c.2971G>A (p.Val991Met)
c.1877-248G>A
n.870-4342C>T
c.2617G>A (p.Val873Met)
c.2260G>A (p.Val754Met)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.166272747A=CA1304962850SCN1A-AS1,SCN9Ac.3003T= (p.Tyr1001=)
c.3T= (p.Tyr1=)
c.2970T= (p.Tyr990=)
c.1877-249T=
n.870-4341A=
c.2616T= (p.Tyr872=)
c.2259T= (p.Tyr753=)
2g.166272747A>CCA349074510SCN1A-AS1,SCN9Ac.3003T>G (p.Tyr1001Ter)
c.3T>G (p.Tyr1Ter)
c.2970T>G (p.Tyr990Ter)
c.1877-249T>G
n.870-4341A>C
c.2616T>G (p.Tyr872Ter)
c.2259T>G (p.Tyr753Ter)
2g.166272747A>GCA10586790SCN1A-AS1,SCN9Ac.3003T>C (p.Tyr1001=)
c.3T>C (p.Tyr1=)
c.2970T>C (p.Tyr990=)
c.1877-249T>C
n.870-4341A>G
c.2616T>C (p.Tyr872=)
c.2259T>C (p.Tyr753=)
 ClinVar dbSNP
2g.166272747A>TCA349074512SCN1A-AS1,SCN9Ac.3003T>A (p.Tyr1001Ter)
c.3T>A (p.Tyr1Ter)
c.2970T>A (p.Tyr990Ter)
c.1877-249T>A
n.870-4341A>T
c.2616T>A (p.Tyr872Ter)
c.2259T>A (p.Tyr753Ter)
2g.166272748T>ACA349074515SCN1A-AS1,SCN9Ac.3002A>T (p.Tyr1001Phe)
c.2A>T (p.Tyr1Phe)
c.2969A>T (p.Tyr990Phe)
c.1877-250A>T
n.870-4340T>A
c.2615A>T (p.Tyr872Phe)
c.2258A>T (p.Tyr753Phe)
 COSMIC COSMIC
2g.166272748T>CCA231497SCN1A-AS1,SCN9Ac.3002A>G (p.Tyr1001Cys)
c.2A>G (p.Tyr1Cys)
c.2969A>G (p.Tyr990Cys)
c.1877-250A>G
n.870-4340T>C
c.2615A>G (p.Tyr872Cys)
c.2258A>G (p.Tyr753Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272748T>GCA349074517SCN1A-AS1,SCN9Ac.3002A>C (p.Tyr1001Ser)
c.2A>C (p.Tyr1Ser)
c.2969A>C (p.Tyr990Ser)
c.1877-250A>C
n.870-4340T>G
c.2615A>C (p.Tyr872Ser)
c.2258A>C (p.Tyr753Ser)
2g.166272748T=CA1304962851SCN1A-AS1,SCN9Ac.3002A= (p.Tyr1001=)
c.2A= (p.Tyr1=)
c.2969A= (p.Tyr990=)
c.1877-250A=
n.870-4340T=
c.2615A= (p.Tyr872=)
c.2258A= (p.Tyr753=)
2g.166272749A>CCA349074518SCN1A-AS1,SCN9Ac.3001T>G (p.Tyr1001Asp)
c.1T>G (p.Tyr1Asp)
c.2968T>G (p.Tyr990Asp)
c.1877-251T>G
n.870-4339A>C
c.2614T>G (p.Tyr872Asp)
c.2257T>G (p.Tyr753Asp)
2g.166272749A>GCA349074519SCN1A-AS1,SCN9Ac.3001T>C (p.Tyr1001His)
c.1T>C (p.Tyr1His)
c.2968T>C (p.Tyr990His)
c.1877-251T>C
n.870-4339A>G
c.2614T>C (p.Tyr872His)
c.2257T>C (p.Tyr753His)
2g.166272749A>TCA349074520SCN1A-AS1,SCN9Ac.3001T>A (p.Tyr1001Asn)
c.1T>A (p.Tyr1Asn)
c.2968T>A (p.Tyr990Asn)
c.1877-251T>A
n.870-4339A>T
c.2614T>A (p.Tyr872Asn)
c.2257T>A (p.Tyr753Asn)
2g.166272750A>CCA349074521SCN1A-AS1,SCN9Ac.3000T>G (p.Asn1000Lys)
c.2967T>G (p.Asn989Lys)
c.1877-252T>G
n.870-4338A>C
c.2613T>G (p.Asn871Lys)
c.2256T>G (p.Asn752Lys)
2g.166272750A>GCA429978037SCN1A-AS1,SCN9Ac.3000T>C (p.Asn1000=)
c.2967T>C (p.Asn989=)
c.1877-252T>C
n.870-4338A>G
c.2613T>C (p.Asn871=)
c.2256T>C (p.Asn752=)
2g.166272750A>TCA349074522SCN1A-AS1,SCN9Ac.3000T>A (p.Asn1000Lys)
c.2967T>A (p.Asn989Lys)
c.1877-252T>A
n.870-4338A>T
c.2613T>A (p.Asn871Lys)
c.2256T>A (p.Asn752Lys)
2g.166272751T>ACA349074523SCN1A-AS1,SCN9Ac.2999A>T (p.Asn1000Ile)
c.2966A>T (p.Asn989Ile)
c.1877-253A>T
n.870-4337T>A
c.2612A>T (p.Asn871Ile)
c.2255A>T (p.Asn752Ile)
2g.166272751T>CCA59791793SCN1A-AS1,SCN9Ac.2999A>G (p.Asn1000Ser)
c.2966A>G (p.Asn989Ser)
c.1877-253A>G
n.870-4337T>C
c.2612A>G (p.Asn871Ser)
c.2255A>G (p.Asn752Ser)
 dbSNP
2g.166272751T>GCA349074524SCN1A-AS1,SCN9Ac.2999A>C (p.Asn1000Thr)
c.2966A>C (p.Asn989Thr)
c.1877-253A>C
n.870-4337T>G
c.2612A>C (p.Asn871Thr)
c.2255A>C (p.Asn752Thr)
2g.166272751T=CA1304962852SCN1A-AS1,SCN9Ac.2999A= (p.Asn1000=)
c.2966A= (p.Asn989=)
c.1877-253A=
n.870-4337T=
c.2612A= (p.Asn871=)
c.2255A= (p.Asn752=)
2g.166272752T>ACA349074529SCN1A-AS1,SCN9Ac.2998A>T (p.Asn1000Tyr)
c.2965A>T (p.Asn989Tyr)
c.1877-254A>T
n.870-4336T>A
c.2611A>T (p.Asn871Tyr)
c.2254A>T (p.Asn752Tyr)
2g.166272752T>CCA349074526SCN1A-AS1,SCN9Ac.2998A>G (p.Asn1000Asp)
c.2965A>G (p.Asn989Asp)
c.1877-254A>G
n.870-4336T>C
c.2611A>G (p.Asn871Asp)
c.2254A>G (p.Asn752Asp)
2g.166272752T>GCA59791794SCN1A-AS1,SCN9Ac.2998A>C (p.Asn1000His)
c.2965A>C (p.Asn989His)
c.1877-254A>C
n.870-4336T>G
c.2611A>C (p.Asn871His)
c.2254A>C (p.Asn752His)
 dbSNP
2g.166272752T=CA1304962853SCN1A-AS1,SCN9Ac.2998A= (p.Asn1000=)
c.2965A= (p.Asn989=)
c.1877-254A=
n.870-4336T=
c.2611A= (p.Asn871=)
c.2254A= (p.Asn752=)
2g.166272753T>ACA429978039SCN1A-AS1,SCN9Ac.2997A>T (p.Ile999=)
c.2964A>T (p.Ile988=)
c.1877-255A>T
n.870-4335T>A
c.2610A>T (p.Ile870=)
c.2253A>T (p.Ile751=)
2g.166272753T>CCA349074531SCN1A-AS1,SCN9Ac.2997A>G (p.Ile999Met)
c.2964A>G (p.Ile988Met)
c.1877-255A>G
n.870-4335T>C
c.2610A>G (p.Ile870Met)
c.2253A>G (p.Ile751Met)
2g.166272753T>GCA429978040SCN1A-AS1,SCN9Ac.2997A>C (p.Ile999=)
c.2964A>C (p.Ile988=)
c.1877-255A>C
n.870-4335T>G
c.2610A>C (p.Ile870=)
c.2253A>C (p.Ile751=)
2g.166272754A>CCA349074534SCN1A-AS1,SCN9Ac.2996T>G (p.Ile999Arg)
c.2963T>G (p.Ile988Arg)
c.1877-256T>G
n.870-4334A>C
c.2609T>G (p.Ile870Arg)
c.2252T>G (p.Ile751Arg)
2g.166272754A>GCA349074536SCN1A-AS1,SCN9Ac.2996T>C (p.Ile999Thr)
c.2963T>C (p.Ile988Thr)
c.1877-256T>C
n.870-4334A>G
c.2609T>C (p.Ile870Thr)
c.2252T>C (p.Ile751Thr)
 ClinVar dbSNP
2g.166272754A>TCA349074537SCN1A-AS1,SCN9Ac.2996T>A (p.Ile999Lys)
c.2963T>A (p.Ile988Lys)
c.1877-256T>A
n.870-4334A>T
c.2609T>A (p.Ile870Lys)
c.2252T>A (p.Ile751Lys)
2g.166272755T>ACA349074540SCN1A-AS1,SCN9Ac.2995A>T (p.Ile999Leu)
c.2962A>T (p.Ile988Leu)
c.1877-257A>T
n.870-4333T>A
c.2608A>T (p.Ile870Leu)
c.2251A>T (p.Ile751Leu)
2g.166272755T>CCA349074542SCN1A-AS1,SCN9Ac.2995A>G (p.Ile999Val)
c.2962A>G (p.Ile988Val)
c.1877-257A>G
n.870-4333T>C
c.2608A>G (p.Ile870Val)
c.2251A>G (p.Ile751Val)
 ClinVar dbSNP
2g.166272755T>GCA349074543SCN1A-AS1,SCN9Ac.2995A>C (p.Ile999Leu)
c.2962A>C (p.Ile988Leu)
c.1877-257A>C
n.870-4333T>G
c.2608A>C (p.Ile870Leu)
c.2251A>C (p.Ile751Leu)
2g.166272756T>ACA429978043SCN1A-AS1,SCN9Ac.2994A>T (p.Gly998=)
c.2961A>T (p.Gly987=)
c.1877-258A>T
n.870-4332T>A
c.2607A>T (p.Gly869=)
c.2250A>T (p.Gly750=)
2g.166272756T>CCA429978044SCN1A-AS1,SCN9Ac.2994A>G (p.Gly998=)
c.2961A>G (p.Gly987=)
c.1877-258A>G
n.870-4332T>C
c.2607A>G (p.Gly869=)
c.2250A>G (p.Gly750=)
2g.166272756T>GCA429978046SCN1A-AS1,SCN9Ac.2994A>C (p.Gly998=)
c.2961A>C (p.Gly987=)
c.1877-258A>C
n.870-4332T>G
c.2607A>C (p.Gly869=)
c.2250A>C (p.Gly750=)
 ClinVar dbSNP
2g.166272756T=CA1304962854SCN1A-AS1,SCN9Ac.2994A= (p.Gly998=)
c.2961A= (p.Gly987=)
c.1877-258A=
n.870-4332T=
c.2607A= (p.Gly869=)
c.2250A= (p.Gly750=)
2g.166272756_166272757delinsTCCA1304962855SCN1A-AS1,SCN9Ac.2993_2994delinsGA (p.Gly998=)
c.2960_2961delinsGA (p.Gly987=)
c.1877-259_1877-258delinsGA
n.870-4332_870-4331delinsTC
c.2606_2607delinsGA (p.Gly869=)
c.2249_2250delinsGA (p.Gly750=)
2g.166272757C>ACA349074546SCN1A-AS1,SCN9Ac.2993G>T (p.Gly998Val)
c.2960G>T (p.Gly987Val)
c.1877-259G>T
n.870-4331C>A
c.2606G>T (p.Gly869Val)
c.2249G>T (p.Gly750Val)
2g.166272757C>GCA349074548SCN1A-AS1,SCN9Ac.2993G>C (p.Gly998Ala)
c.2960G>C (p.Gly987Ala)
c.1877-259G>C
n.870-4331C>G
c.2606G>C (p.Gly869Ala)
c.2249G>C (p.Gly750Ala)
2g.166272757C>TCA349074549SCN1A-AS1,SCN9Ac.2993G>A (p.Gly998Glu)
c.2960G>A (p.Gly987Glu)
c.1877-259G>A
n.870-4331C>T
c.2606G>A (p.Gly869Glu)
c.2249G>A (p.Gly750Glu)
 COSMIC COSMIC
2g.166272759delCA1304962856SCN1A-AS1,SCN9Ac.2993del (p.Gly998GlufsTer2)
c.2960del (p.Gly987GlufsTer2)
c.1877-259del
n.870-4329del
c.2606del (p.Gly869GlufsTer2)
c.2249del (p.Gly750GlufsTer2)
 dbSNP gnomAD v4
2g.166272758C>ACA349074553SCN1A-AS1,SCN9Ac.2992G>T (p.Gly998Ter)
c.2959G>T (p.Gly987Ter)
c.1877-260G>T
n.870-4330C>A
c.2605G>T (p.Gly869Ter)
c.2248G>T (p.Gly750Ter)
 dbSNP gnomAD v4
2g.166272758C=CA1304962857SCN1A-AS1,SCN9Ac.2992G= (p.Gly998=)
c.2959G= (p.Gly987=)
c.1877-260G=
n.870-4330C=
c.2605G= (p.Gly869=)
c.2248G= (p.Gly750=)
2g.166272758C>GCA349074554SCN1A-AS1,SCN9Ac.2992G>C (p.Gly998Arg)
c.2959G>C (p.Gly987Arg)
c.1877-260G>C
n.870-4330C>G
c.2605G>C (p.Gly869Arg)
c.2248G>C (p.Gly750Arg)
2g.166272758C>TCA349074551SCN1A-AS1,SCN9Ac.2992G>A (p.Gly998Arg)
c.2959G>A (p.Gly987Arg)
c.1877-260G>A
n.870-4330C>T
c.2605G>A (p.Gly869Arg)
c.2248G>A (p.Gly750Arg)
 gnomAD v4 COSMIC COSMIC
2g.166272759C>ACA1944158SCN1A-AS1,SCN9Ac.2991G>T (p.Lys997Asn)
c.2958G>T (p.Lys986Asn)
c.1877-261G>T
n.870-4329C>A
c.2604G>T (p.Lys868Asn)
c.2247G>T (p.Lys749Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272759C=CA1304962858SCN1A-AS1,SCN9Ac.2991G= (p.Lys997=)
c.2958G= (p.Lys986=)
c.1877-261G=
n.870-4329C=
c.2604G= (p.Lys868=)
c.2247G= (p.Lys749=)
2g.166272759C>GCA349074557SCN1A-AS1,SCN9Ac.2991G>C (p.Lys997Asn)
c.2958G>C (p.Lys986Asn)
c.1877-261G>C
n.870-4329C>G
c.2604G>C (p.Lys868Asn)
c.2247G>C (p.Lys749Asn)
 ClinVar
2g.166272759C>TCA429978049SCN1A-AS1,SCN9Ac.2991G>A (p.Lys997=)
c.2958G>A (p.Lys986=)
c.1877-261G>A
n.870-4329C>T
c.2604G>A (p.Lys868=)
c.2247G>A (p.Lys749=)
 gnomAD v4
2g.166272760T>ACA349074559SCN1A-AS1,SCN9Ac.2990A>T (p.Lys997Met)
c.2957A>T (p.Lys986Met)
c.1877-262A>T
n.870-4328T>A
c.2603A>T (p.Lys868Met)
c.2246A>T (p.Lys749Met)
2g.166272760T>CCA349074560SCN1A-AS1,SCN9Ac.2990A>G (p.Lys997Arg)
c.2957A>G (p.Lys986Arg)
c.1877-262A>G
n.870-4328T>C
c.2603A>G (p.Lys868Arg)
c.2246A>G (p.Lys749Arg)
2g.166272760T>GCA349074561SCN1A-AS1,SCN9Ac.2990A>C (p.Lys997Thr)
c.2957A>C (p.Lys986Thr)
c.1877-262A>C
n.870-4328T>G
c.2603A>C (p.Lys868Thr)
c.2246A>C (p.Lys749Thr)
2g.166272764delCA2661766691SCN1A-AS1,SCN9Ac.2990del (p.Lys997ArgfsTer3)
c.2957del (p.Lys986ArgfsTer3)
c.1877-262del
n.870-4324del
c.2603del (p.Lys868ArgfsTer3)
c.2246del (p.Lys749ArgfsTer3)
 gnomAD v4
2g.166272761T>ACA349074563SCN1A-AS1,SCN9Ac.2989A>T (p.Lys997Ter)
c.2956A>T (p.Lys986Ter)
c.1877-263A>T
n.870-4327T>A
c.2602A>T (p.Lys868Ter)
c.2245A>T (p.Lys749Ter)
 dbSNP
2g.166272761T>CCA349074564SCN1A-AS1,SCN9Ac.2989A>G (p.Lys997Glu)
c.2956A>G (p.Lys986Glu)
c.1877-263A>G
n.870-4327T>C
c.2602A>G (p.Lys868Glu)
c.2245A>G (p.Lys749Glu)
2g.166272761T>GCA349074566SCN1A-AS1,SCN9Ac.2989A>C (p.Lys997Gln)
c.2956A>C (p.Lys986Gln)
c.1877-263A>C
n.870-4327T>G
c.2602A>C (p.Lys868Gln)
c.2245A>C (p.Lys749Gln)
2g.166272761T=CA1304962859SCN1A-AS1,SCN9Ac.2989A= (p.Lys997=)
c.2956A= (p.Lys986=)
c.1877-263A=
n.870-4327T=
c.2602A= (p.Lys868=)
c.2245A= (p.Lys749=)
2g.166272762T>ACA349074570SCN1A-AS1,SCN9Ac.2988A>T (p.Lys996Asn)
c.2955A>T (p.Lys985Asn)
c.1877-264A>T
n.870-4326T>A
c.2601A>T (p.Lys867Asn)
c.2244A>T (p.Lys748Asn)
2g.166272762T>CCA429978050SCN1A-AS1,SCN9Ac.2988A>G (p.Lys996=)
c.2955A>G (p.Lys985=)
c.1877-264A>G
n.870-4326T>C
c.2601A>G (p.Lys867=)
c.2244A>G (p.Lys748=)
2g.166272762T>GCA349074572SCN1A-AS1,SCN9Ac.2988A>C (p.Lys996Asn)
c.2955A>C (p.Lys985Asn)
c.1877-264A>C
n.870-4326T>G
c.2601A>C (p.Lys867Asn)
c.2244A>C (p.Lys748Asn)
2g.166272763T>ACA349074574SCN1A-AS1,SCN9Ac.2987A>T (p.Lys996Ile)
c.2954A>T (p.Lys985Ile)
c.1877-265A>T
n.870-4325T>A
c.2600A>T (p.Lys867Ile)
c.2243A>T (p.Lys748Ile)
2g.166272763T>CCA349074576SCN1A-AS1,SCN9Ac.2987A>G (p.Lys996Arg)
c.2954A>G (p.Lys985Arg)
c.1877-265A>G
n.870-4325T>C
c.2600A>G (p.Lys867Arg)
c.2243A>G (p.Lys748Arg)
2g.166272763T>GCA349074578SCN1A-AS1,SCN9Ac.2987A>C (p.Lys996Thr)
c.2954A>C (p.Lys985Thr)
c.1877-265A>C
n.870-4325T>G
c.2600A>C (p.Lys867Thr)
c.2243A>C (p.Lys748Thr)
2g.166272763T=CA1304962860SCN1A-AS1,SCN9Ac.2987A= (p.Lys996=)
c.2954A= (p.Lys985=)
c.1877-265A=
n.870-4325T=
c.2600A= (p.Lys867=)
c.2243A= (p.Lys748=)
2g.166272763_166272764insCCA59791796SCN1A-AS1,SCN9Ac.2986_2987insG (p.Lys996ArgfsTer13)
c.2953_2954insG (p.Lys985ArgfsTer13)
c.1877-266_1877-265insG
n.870-4325_870-4324insC
c.2599_2600insG (p.Lys867ArgfsTer13)
c.2242_2243insG (p.Lys748ArgfsTer13)
 dbSNP
2g.166272764T>ACA349074582SCN1A-AS1,SCN9Ac.2986A>T (p.Lys996Ter)
c.2953A>T (p.Lys985Ter)
c.1877-266A>T
n.870-4324T>A
c.2599A>T (p.Lys867Ter)
c.2242A>T (p.Lys748Ter)
 dbSNP
2g.166272764T>CCA349074584SCN1A-AS1,SCN9Ac.2986A>G (p.Lys996Glu)
c.2953A>G (p.Lys985Glu)
c.1877-266A>G
n.870-4324T>C
c.2599A>G (p.Lys867Glu)
c.2242A>G (p.Lys748Glu)
2g.166272764T>GCA349074581SCN1A-AS1,SCN9Ac.2986A>C (p.Lys996Gln)
c.2953A>C (p.Lys985Gln)
c.1877-266A>C
n.870-4324T>G
c.2599A>C (p.Lys867Gln)
c.2242A>C (p.Lys748Gln)
2g.166272764T=CA1304962861SCN1A-AS1,SCN9Ac.2986A= (p.Lys996=)
c.2953A= (p.Lys985=)
c.1877-266A=
n.870-4324T=
c.2599A= (p.Lys867=)
c.2242A= (p.Lys748=)
2g.166272765A>CCA349074588SCN1A-AS1,SCN9Ac.2985T>G (p.Ile995Met)
c.2952T>G (p.Ile984Met)
c.1877-267T>G
n.870-4323A>C
c.2598T>G (p.Ile866Met)
c.2241T>G (p.Ile747Met)
2g.166272765A>GCA429978052SCN1A-AS1,SCN9Ac.2985T>C (p.Ile995=)
c.2952T>C (p.Ile984=)
c.1877-267T>C
n.870-4323A>G
c.2598T>C (p.Ile866=)
c.2241T>C (p.Ile747=)
2g.166272765A>TCA429978053SCN1A-AS1,SCN9Ac.2985T>A (p.Ile995=)
c.2952T>A (p.Ile984=)
c.1877-267T>A
n.870-4323A>T
c.2598T>A (p.Ile866=)
c.2241T>A (p.Ile747=)
2g.166272765_166272766delinsAACA1304962862SCN1A-AS1,SCN9Ac.2984_2985delinsTT (p.Ile995=)
c.2951_2952delinsTT (p.Ile984=)
c.1877-268_1877-267delinsTT
n.870-4323_870-4322delinsAA
c.2597_2598delinsTT (p.Ile866=)
c.2240_2241delinsTT (p.Ile747=)
2g.166272765_166272766insGCA2499215220SCN1A-AS1,SCN9Ac.2984_2985insC (p.Lys996Ter)
c.2951_2952insC (p.Lys985Ter)
c.1877-268_1877-267insC
n.870-4323_870-4322insG
c.2597_2598insC (p.Lys867Ter)
c.2240_2241insC (p.Lys748Ter)
 ClinVar dbSNP
2g.166272766A>CCA349074590SCN1A-AS1,SCN9Ac.2984T>G (p.Ile995Ser)
c.2951T>G (p.Ile984Ser)
c.1877-268T>G
n.870-4322A>C
c.2597T>G (p.Ile866Ser)
c.2240T>G (p.Ile747Ser)
2g.166272766A>GCA349074592SCN1A-AS1,SCN9Ac.2984T>C (p.Ile995Thr)
c.2951T>C (p.Ile984Thr)
c.1877-268T>C
n.870-4322A>G
c.2597T>C (p.Ile866Thr)
c.2240T>C (p.Ile747Thr)
2g.166272766A>TCA349074594SCN1A-AS1,SCN9Ac.2984T>A (p.Ile995Asn)
c.2951T>A (p.Ile984Asn)
c.1877-268T>A
n.870-4322A>T
c.2597T>A (p.Ile866Asn)
c.2240T>A (p.Ile747Asn)
2g.166272766delinsGGCA915942953SCN1A-AS1,SCN9Ac.2984delinsCC (p.Ile995ThrfsTer2)
c.2951delinsCC (p.Ile984ThrfsTer2)
c.1877-268delinsCC
n.870-4322delinsGG
c.2597delinsCC (p.Ile866ThrfsTer2)
c.2240delinsCC (p.Ile747ThrfsTer2)
 ClinVar dbSNP
2g.166272767T>ACA349074597SCN1A-AS1,SCN9Ac.2983A>T (p.Ile995Phe)
c.2950A>T (p.Ile984Phe)
c.1877-269A>T
n.870-4321T>A
c.2596A>T (p.Ile866Phe)
c.2239A>T (p.Ile747Phe)
2g.166272767T>CCA349074598SCN1A-AS1,SCN9Ac.2983A>G (p.Ile995Val)
c.2950A>G (p.Ile984Val)
c.1877-269A>G
n.870-4321T>C
c.2596A>G (p.Ile866Val)
c.2239A>G (p.Ile747Val)
2g.166272767T>GCA349074600SCN1A-AS1,SCN9Ac.2983A>C (p.Ile995Leu)
c.2950A>C (p.Ile984Leu)
c.1877-269A>C
n.870-4321T>G
c.2596A>C (p.Ile866Leu)
c.2239A>C (p.Ile747Leu)
2g.166272768T>ACA349074602SCN1A-AS1,SCN9Ac.2982A>T (p.Arg994Ser)
c.2949A>T (p.Arg983Ser)
c.1877-270A>T
n.870-4320T>A
c.2595A>T (p.Arg865Ser)
c.2238A>T (p.Arg746Ser)
2g.166272768T>CCA429978054SCN1A-AS1,SCN9Ac.2982A>G (p.Arg994=)
c.2949A>G (p.Arg983=)
c.1877-270A>G
n.870-4320T>C
c.2595A>G (p.Arg865=)
c.2238A>G (p.Arg746=)
 COSMIC COSMIC
2g.166272768T>GCA349074604SCN1A-AS1,SCN9Ac.2982A>C (p.Arg994Ser)
c.2949A>C (p.Arg983Ser)
c.1877-270A>C
n.870-4320T>G
c.2595A>C (p.Arg865Ser)
c.2238A>C (p.Arg746Ser)
2g.166272769C>ACA349074607SCN1A-AS1,SCN9Ac.2981G>T (p.Arg994Ile)
c.2948G>T (p.Arg983Ile)
c.1877-271G>T
n.870-4319C>A
c.2594G>T (p.Arg865Ile)
c.2237G>T (p.Arg746Ile)
 gnomAD v4
2g.166272769C>GCA349074609SCN1A-AS1,SCN9Ac.2981G>C (p.Arg994Thr)
c.2948G>C (p.Arg983Thr)
c.1877-271G>C
n.870-4319C>G
c.2594G>C (p.Arg865Thr)
c.2237G>C (p.Arg746Thr)
 gnomAD v4
2g.166272769C>TCA349074610SCN1A-AS1,SCN9Ac.2981G>A (p.Arg994Lys)
c.2948G>A (p.Arg983Lys)
c.1877-271G>A
n.870-4319C>T
c.2594G>A (p.Arg865Lys)
c.2237G>A (p.Arg746Lys)
 gnomAD v4
2g.166272770T>ACA349074615SCN1A-AS1,SCN9Ac.2980A>T (p.Arg994Ter)
c.2947A>T (p.Arg983Ter)
c.1877-272A>T
n.870-4318T>A
c.2593A>T (p.Arg865Ter)
c.2236A>T (p.Arg746Ter)
 dbSNP
2g.166272770T>CCA349074613SCN1A-AS1,SCN9Ac.2980A>G (p.Arg994Gly)
c.2947A>G (p.Arg983Gly)
c.1877-272A>G
n.870-4318T>C
c.2593A>G (p.Arg865Gly)
c.2236A>G (p.Arg746Gly)
 COSMIC COSMIC
2g.166272770T>GCA429978055SCN1A-AS1,SCN9Ac.2980A>C (p.Arg994=)
c.2947A>C (p.Arg983=)
c.1877-272A>C
n.870-4318T>G
c.2593A>C (p.Arg865=)
c.2236A>C (p.Arg746=)
2g.166272770T=CA1304962863SCN1A-AS1,SCN9Ac.2980A= (p.Arg994=)
c.2947A= (p.Arg983=)
c.1877-272A=
n.870-4318T=
c.2593A= (p.Arg865=)
c.2236A= (p.Arg746=)
2g.166272771A>CCA429978060SCN1A-AS1,SCN9Ac.2979T>G (p.Thr993=)
c.2946T>G (p.Thr982=)
c.1877-273T>G
n.870-4317A>C
c.2592T>G (p.Thr864=)
c.2235T>G (p.Thr745=)
2g.166272771A>GCA429978062SCN1A-AS1,SCN9Ac.2979T>C (p.Thr993=)
c.2946T>C (p.Thr982=)
c.1877-273T>C
n.870-4317A>G
c.2592T>C (p.Thr864=)
c.2235T>C (p.Thr745=)
2g.166272771A>TCA429978064SCN1A-AS1,SCN9Ac.2979T>A (p.Thr993=)
c.2946T>A (p.Thr982=)
c.1877-273T>A
n.870-4317A>T
c.2592T>A (p.Thr864=)
c.2235T>A (p.Thr745=)
2g.166272772G>ACA349074618SCN1A-AS1,SCN9Ac.2978C>T (p.Thr993Ile)
c.2945C>T (p.Thr982Ile)
c.1877-274C>T
n.870-4316G>A
c.2591C>T (p.Thr864Ile)
c.2234C>T (p.Thr745Ile)
2g.166272772G>CCA349074619SCN1A-AS1,SCN9Ac.2978C>G (p.Thr993Ser)
c.2945C>G (p.Thr982Ser)
c.1877-274C>G
n.870-4316G>C
c.2591C>G (p.Thr864Ser)
c.2234C>G (p.Thr745Ser)
2g.166272772G>TCA349074621SCN1A-AS1,SCN9Ac.2978C>A (p.Thr993Asn)
c.2945C>A (p.Thr982Asn)
c.1877-274C>A
n.870-4316G>T
c.2591C>A (p.Thr864Asn)
c.2234C>A (p.Thr745Asn)
2g.166272773T>ACA349074623SCN1A-AS1,SCN9Ac.2977A>T (p.Thr993Ser)
c.2944A>T (p.Thr982Ser)
c.1877-275A>T
n.870-4315T>A
c.2590A>T (p.Thr864Ser)
c.2233A>T (p.Thr745Ser)
2g.166272773T>CCA349074625SCN1A-AS1,SCN9Ac.2977A>G (p.Thr993Ala)
c.2944A>G (p.Thr982Ala)
c.1877-275A>G
n.870-4315T>C
c.2590A>G (p.Thr864Ala)
c.2233A>G (p.Thr745Ala)
2g.166272773T>GCA349074627SCN1A-AS1,SCN9Ac.2977A>C (p.Thr993Pro)
c.2944A>C (p.Thr982Pro)
c.1877-275A>C
n.870-4315T>G
c.2590A>C (p.Thr864Pro)
c.2233A>C (p.Thr745Pro)
 gnomAD v4
2g.166272774C>ACA429978066SCN1A-AS1,SCN9Ac.2976G>T (p.Val992=)
c.2943G>T (p.Val981=)
c.1877-276G>T
n.870-4314C>A
c.2589G>T (p.Val863=)
c.2232G>T (p.Val744=)
2g.166272774C=CA1304962864SCN1A-AS1,SCN9Ac.2976G= (p.Val992=)
c.2943G= (p.Val981=)
c.1877-276G=
n.870-4314C=
c.2589G= (p.Val863=)
c.2232G= (p.Val744=)
2g.166272774C>GCA429978068SCN1A-AS1,SCN9Ac.2976G>C (p.Val992=)
c.2943G>C (p.Val981=)
c.1877-276G>C
n.870-4314C>G
c.2589G>C (p.Val863=)
c.2232G>C (p.Val744=)
2g.166272774C>TCA429978071SCN1A-AS1,SCN9Ac.2976G>A (p.Val992=)
c.2943G>A (p.Val981=)
c.1877-276G>A
n.870-4314C>T
c.2589G>A (p.Val863=)
c.2232G>A (p.Val744=)
 dbSNP
2g.166272775A=CA1304962865SCN1A-AS1,SCN9Ac.2975T= (p.Val992=)
c.2942T= (p.Val981=)
c.1877-277T=
n.870-4313A=
c.2588T= (p.Val863=)
c.2231T= (p.Val744=)
2g.166272775A>CCA349074632SCN1A-AS1,SCN9Ac.2975T>G (p.Val992Gly)
c.2942T>G (p.Val981Gly)
c.1877-277T>G
n.870-4313A>C
c.2588T>G (p.Val863Gly)
c.2231T>G (p.Val744Gly)
 ClinVar dbSNP gnomAD v4
2g.166272775A>GCA16603954SCN1A-AS1,SCN9Ac.2975T>C (p.Val992Ala)
c.2942T>C (p.Val981Ala)
c.1877-277T>C
n.870-4313A>G
c.2588T>C (p.Val863Ala)
c.2231T>C (p.Val744Ala)
 ClinVar dbSNP
2g.166272775A>TCA349074629SCN1A-AS1,SCN9Ac.2975T>A (p.Val992Glu)
c.2942T>A (p.Val981Glu)
c.1877-277T>A
n.870-4313A>T
c.2588T>A (p.Val863Glu)
c.2231T>A (p.Val744Glu)
 gnomAD v4
2g.166272776C>ACA349074633SCN1A-AS1,SCN9Ac.2974G>T (p.Val992Leu)
c.2941G>T (p.Val981Leu)
c.1877-278G>T
n.870-4312C>A
c.2587G>T (p.Val863Leu)
c.2230G>T (p.Val744Leu)
 gnomAD v4
2g.166272776C>GCA349074635SCN1A-AS1,SCN9Ac.2974G>C (p.Val992Leu)
c.2941G>C (p.Val981Leu)
c.1877-278G>C
n.870-4312C>G
c.2587G>C (p.Val863Leu)
c.2230G>C (p.Val744Leu)
2g.166272776C>TCA349074636SCN1A-AS1,SCN9Ac.2974G>A (p.Val992Met)
c.2941G>A (p.Val981Met)
c.1877-278G>A
n.870-4312C>T
c.2587G>A (p.Val863Met)
c.2230G>A (p.Val744Met)
 gnomAD v4
2g.166272777T>ACA429978075SCN1A-AS1,SCN9Ac.2973A>T (p.Ala991=)
c.2940A>T (p.Ala980=)
c.1877-279A>T
n.870-4311T>A
c.2586A>T (p.Ala862=)
c.2229A>T (p.Ala743=)
2g.166272777T>CCA429978076SCN1A-AS1,SCN9Ac.2973A>G (p.Ala991=)
c.2940A>G (p.Ala980=)
c.1877-279A>G
n.870-4311T>C
c.2586A>G (p.Ala862=)
c.2229A>G (p.Ala743=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272777T>GCA429978077SCN1A-AS1,SCN9Ac.2973A>C (p.Ala991=)
c.2940A>C (p.Ala980=)
c.1877-279A>C
n.870-4311T>G
c.2586A>C (p.Ala862=)
c.2229A>C (p.Ala743=)
2g.166272777T=CA1304962866SCN1A-AS1,SCN9Ac.2973A= (p.Ala991=)
c.2940A= (p.Ala980=)
c.1877-279A=
n.870-4311T=
c.2586A= (p.Ala862=)
c.2229A= (p.Ala743=)
2g.166272778G>ACA349074637SCN1A-AS1,SCN9Ac.2972C>T (p.Ala991Val)
c.2939C>T (p.Ala980Val)
c.1877-280C>T
n.870-4310G>A
c.2585C>T (p.Ala862Val)
c.2228C>T (p.Ala743Val)
 dbSNP gnomAD v2 gnomAD v4
2g.166272778G>CCA349074638SCN1A-AS1,SCN9Ac.2972C>G (p.Ala991Gly)
c.2939C>G (p.Ala980Gly)
c.1877-280C>G
n.870-4310G>C
c.2585C>G (p.Ala862Gly)
c.2228C>G (p.Ala743Gly)
2g.166272778G=CA1304962867SCN1A-AS1,SCN9Ac.2972C= (p.Ala991=)
c.2939C= (p.Ala980=)
c.1877-280C=
n.870-4310G=
c.2585C= (p.Ala862=)
c.2228C= (p.Ala743=)
2g.166272778G>TCA349074640SCN1A-AS1,SCN9Ac.2972C>A (p.Ala991Glu)
c.2939C>A (p.Ala980Glu)
c.1877-280C>A
n.870-4310G>T
c.2585C>A (p.Ala862Glu)
c.2228C>A (p.Ala743Glu)
2g.166272779C>ACA349074642SCN1A-AS1,SCN9Ac.2971G>T (p.Ala991Ser)
c.2938G>T (p.Ala980Ser)
c.1877-281G>T
n.870-4309C>A
c.2584G>T (p.Ala862Ser)
c.2227G>T (p.Ala743Ser)
 gnomAD v4
2g.166272779C>GCA349074646SCN1A-AS1,SCN9Ac.2971G>C (p.Ala991Pro)
c.2938G>C (p.Ala980Pro)
c.1877-281G>C
n.870-4309C>G
c.2584G>C (p.Ala862Pro)
c.2227G>C (p.Ala743Pro)
2g.166272779C>TCA349074644SCN1A-AS1,SCN9Ac.2971G>A (p.Ala991Thr)
c.2938G>A (p.Ala980Thr)
c.1877-281G>A
n.870-4309C>T
c.2584G>A (p.Ala862Thr)
c.2227G>A (p.Ala743Thr)
2g.166272780A>CCA349074648SCN1A-AS1,SCN9Ac.2970T>G (p.Ile990Met)
c.2937T>G (p.Ile979Met)
c.1877-282T>G
n.870-4308A>C
c.2583T>G (p.Ile861Met)
c.2226T>G (p.Ile742Met)
2g.166272780A>GCA429978082SCN1A-AS1,SCN9Ac.2970T>C (p.Ile990=)
c.2937T>C (p.Ile979=)
c.1877-282T>C
n.870-4308A>G
c.2583T>C (p.Ile861=)
c.2226T>C (p.Ile742=)
 gnomAD v4
2g.166272780A>TCA429978083SCN1A-AS1,SCN9Ac.2970T>A (p.Ile990=)
c.2937T>A (p.Ile979=)
c.1877-282T>A
n.870-4308A>T
c.2583T>A (p.Ile861=)
c.2226T>A (p.Ile742=)
 gnomAD v4
2g.166272781delCA2586970692SCN1A-AS1,SCN9Ac.2970del (p.Ile990MetfsTer3)
c.2937del (p.Ile979MetfsTer3)
c.1877-282del
n.870-4307del
c.2583del (p.Ile861MetfsTer3)
c.2226del (p.Ile742MetfsTer3)
 gnomAD v4
2g.166272781A>CCA349074650SCN1A-AS1,SCN9Ac.2969T>G (p.Ile990Ser)
c.2936T>G (p.Ile979Ser)
c.1877-283T>G
n.870-4307A>C
c.2582T>G (p.Ile861Ser)
c.2225T>G (p.Ile742Ser)
2g.166272781A>GCA349074652SCN1A-AS1,SCN9Ac.2969T>C (p.Ile990Thr)
c.2936T>C (p.Ile979Thr)
c.1877-283T>C
n.870-4307A>G
c.2582T>C (p.Ile861Thr)
c.2225T>C (p.Ile742Thr)
 ClinVar dbSNP gnomAD v4
2g.166272781A>TCA349074653SCN1A-AS1,SCN9Ac.2969T>A (p.Ile990Asn)
c.2936T>A (p.Ile979Asn)
c.1877-283T>A
n.870-4307A>T
c.2582T>A (p.Ile861Asn)
c.2225T>A (p.Ile742Asn)
 ClinVar
2g.166272782T>ACA349074655SCN1A-AS1,SCN9Ac.2968A>T (p.Ile990Phe)
c.2935A>T (p.Ile979Phe)
c.1877-284A>T
n.870-4306T>A
c.2581A>T (p.Ile861Phe)
c.2224A>T (p.Ile742Phe)
2g.166272782T>CCA349074657SCN1A-AS1,SCN9Ac.2968A>G (p.Ile990Val)
c.2935A>G (p.Ile979Val)
c.1877-284A>G
n.870-4306T>C
c.2581A>G (p.Ile861Val)
c.2224A>G (p.Ile742Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272782T>GCA349074658SCN1A-AS1,SCN9Ac.2968A>C (p.Ile990Leu)
c.2935A>C (p.Ile979Leu)
c.1877-284A>C
n.870-4306T>G
c.2581A>C (p.Ile861Leu)
c.2224A>C (p.Ile742Leu)
2g.166272782T=CA1304962868SCN1A-AS1,SCN9Ac.2968A= (p.Ile990=)
c.2935A= (p.Ile979=)
c.1877-284A=
n.870-4306T=
c.2581A= (p.Ile861=)
c.2224A= (p.Ile742=)
2g.166272783C>ACA349074661SCN1A-AS1,SCN9Ac.2967G>T (p.Gln989His)
c.2934G>T (p.Gln978His)
c.1877-285G>T
n.870-4305C>A
c.2580G>T (p.Gln860His)
c.2223G>T (p.Gln741His)
 gnomAD v4
2g.166272783C>GCA349074662SCN1A-AS1,SCN9Ac.2967G>C (p.Gln989His)
c.2934G>C (p.Gln978His)
c.1877-285G>C
n.870-4305C>G
c.2580G>C (p.Gln860His)
c.2223G>C (p.Gln741His)
2g.166272783C>TCA429978086SCN1A-AS1,SCN9Ac.2967G>A (p.Gln989=)
c.2934G>A (p.Gln978=)
c.1877-285G>A
n.870-4305C>T
c.2580G>A (p.Gln860=)
c.2223G>A (p.Gln741=)
2g.166272784T>ACA349074664SCN1A-AS1,SCN9Ac.2966A>T (p.Gln989Leu)
c.2933A>T (p.Gln978Leu)
c.1877-286A>T
n.870-4304T>A
c.2579A>T (p.Gln860Leu)
c.2222A>T (p.Gln741Leu)
2g.166272784T>CCA349074667SCN1A-AS1,SCN9Ac.2966A>G (p.Gln989Arg)
c.2933A>G (p.Gln978Arg)
c.1877-286A>G
n.870-4304T>C
c.2579A>G (p.Gln860Arg)
c.2222A>G (p.Gln741Arg)
 ClinVar dbSNP
2g.166272784T>GCA349074669SCN1A-AS1,SCN9Ac.2966A>C (p.Gln989Pro)
c.2933A>C (p.Gln978Pro)
c.1877-286A>C
n.870-4304T>G
c.2579A>C (p.Gln860Pro)
c.2222A>C (p.Gln741Pro)
2g.166272784T=CA1304962869SCN1A-AS1,SCN9Ac.2966A= (p.Gln989=)
c.2933A= (p.Gln978=)
c.1877-286A=
n.870-4304T=
c.2579A= (p.Gln860=)
c.2222A= (p.Gln741=)
2g.166272785G>ACA349074675SCN1A-AS1,SCN9Ac.2965C>T (p.Gln989Ter)
c.2932C>T (p.Gln978Ter)
c.1877-287C>T
n.870-4303G>A
c.2578C>T (p.Gln860Ter)
c.2221C>T (p.Gln741Ter)
 gnomAD v4
2g.166272785G>CCA349074671SCN1A-AS1,SCN9Ac.2965C>G (p.Gln989Glu)
c.2932C>G (p.Gln978Glu)
c.1877-287C>G
n.870-4303G>C
c.2578C>G (p.Gln860Glu)
c.2221C>G (p.Gln741Glu)
2g.166272785G>TCA349074673SCN1A-AS1,SCN9Ac.2965C>A (p.Gln989Lys)
c.2932C>A (p.Gln978Lys)
c.1877-287C>A
n.870-4303G>T
c.2578C>A (p.Gln860Lys)
c.2221C>A (p.Gln741Lys)
2g.166272786G>ACA1944159SCN1A-AS1,SCN9Ac.2964C>T (p.Leu988=)
c.2931C>T (p.Leu977=)
c.1877-288C>T
n.870-4302G>A
c.2577C>T (p.Leu859=)
c.2220C>T (p.Leu740=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272786G>CCA429978092SCN1A-AS1,SCN9Ac.2964C>G (p.Leu988=)
c.2931C>G (p.Leu977=)
c.1877-288C>G
n.870-4302G>C
c.2577C>G (p.Leu859=)
c.2220C>G (p.Leu740=)
2g.166272786G=CA1304962870SCN1A-AS1,SCN9Ac.2964C= (p.Leu988=)
c.2931C= (p.Leu977=)
c.1877-288C=
n.870-4302G=
c.2577C= (p.Leu859=)
c.2220C= (p.Leu740=)
2g.166272786G>TCA429978094SCN1A-AS1,SCN9Ac.2964C>A (p.Leu988=)
c.2931C>A (p.Leu977=)
c.1877-288C>A
n.870-4302G>T
c.2577C>A (p.Leu859=)
c.2220C>A (p.Leu740=)
2g.166272787A>CCA349074679SCN1A-AS1,SCN9Ac.2963T>G (p.Leu988Arg)
c.2930T>G (p.Leu977Arg)
c.1877-289T>G
n.870-4301A>C
c.2576T>G (p.Leu859Arg)
c.2219T>G (p.Leu740Arg)
2g.166272787A>GCA349074680SCN1A-AS1,SCN9Ac.2963T>C (p.Leu988Pro)
c.2930T>C (p.Leu977Pro)
c.1877-289T>C
n.870-4301A>G
c.2576T>C (p.Leu859Pro)
c.2219T>C (p.Leu740Pro)
2g.166272787A>TCA349074682SCN1A-AS1,SCN9Ac.2963T>A (p.Leu988His)
c.2930T>A (p.Leu977His)
c.1877-289T>A
n.870-4301A>T
c.2576T>A (p.Leu859His)
c.2219T>A (p.Leu740His)
2g.166272787_166272788delinsAGCA1304962871SCN1A-AS1,SCN9Ac.2962_2963delinsCT (p.Leu988=)
c.2929_2930delinsCT (p.Leu977=)
c.1877-290_1877-289delinsCT
n.870-4301_870-4300delinsAG
c.2575_2576delinsCT (p.Leu859=)
c.2218_2219delinsCT (p.Leu740=)
2g.166272788G>ACA1944160SCN1A-AS1,SCN9Ac.2962C>T (p.Leu988Phe)
c.2929C>T (p.Leu977Phe)
c.1877-290C>T
n.870-4300G>A
c.2575C>T (p.Leu859Phe)
c.2218C>T (p.Leu740Phe)
 dbSNP ExAC gnomAD v4
2g.166272788G>CCA349074685SCN1A-AS1,SCN9Ac.2962C>G (p.Leu988Val)
c.2929C>G (p.Leu977Val)
c.1877-290C>G
n.870-4300G>C
c.2575C>G (p.Leu859Val)
c.2218C>G (p.Leu740Val)
2g.166272788G=CA1304962873SCN1A-AS1,SCN9Ac.2962C= (p.Leu988=)
c.2929C= (p.Leu977=)
c.1877-290C=
n.870-4300G=
c.2575C= (p.Leu859=)
c.2218C= (p.Leu740=)
2g.166272788G>TCA349074687SCN1A-AS1,SCN9Ac.2962C>A (p.Leu988Ile)
c.2929C>A (p.Leu977Ile)
c.1877-290C>A
n.870-4300G>T
c.2575C>A (p.Leu859Ile)
c.2218C>A (p.Leu740Ile)
 gnomAD v4
2g.166272789delCA1304962872SCN1A-AS1,SCN9Ac.2962del (p.Leu988SerfsTer5)
c.2929del (p.Leu977SerfsTer5)
c.1877-290del
n.870-4299del
c.2575del (p.Leu859SerfsTer5)
c.2218del (p.Leu740SerfsTer5)
 dbSNP
2g.166272789G>ACA429978099SCN1A-AS1,SCN9Ac.2961C>T (p.Asn987=)
c.2928C>T (p.Asn976=)
c.1877-291C>T
n.870-4299G>A
c.2574C>T (p.Asn858=)
c.2217C>T (p.Asn739=)
 ClinVar
2g.166272789G>CCA349074692SCN1A-AS1,SCN9Ac.2961C>G (p.Asn987Lys)
c.2928C>G (p.Asn976Lys)
c.1877-291C>G
n.870-4299G>C
c.2574C>G (p.Asn858Lys)
c.2217C>G (p.Asn739Lys)
2g.166272789G>TCA349074694SCN1A-AS1,SCN9Ac.2961C>A (p.Asn987Lys)
c.2928C>A (p.Asn976Lys)
c.1877-291C>A
n.870-4299G>T
c.2574C>A (p.Asn858Lys)
c.2217C>A (p.Asn739Lys)
2g.166272790T>ACA349074697SCN1A-AS1,SCN9Ac.2960A>T (p.Asn987Ile)
c.2927A>T (p.Asn976Ile)
c.1877-292A>T
n.870-4298T>A
c.2573A>T (p.Asn858Ile)
c.2216A>T (p.Asn739Ile)
2g.166272790T>CCA349074698SCN1A-AS1,SCN9Ac.2960A>G (p.Asn987Ser)
c.2927A>G (p.Asn976Ser)
c.1877-292A>G
n.870-4298T>C
c.2573A>G (p.Asn858Ser)
c.2216A>G (p.Asn739Ser)
 ClinVar dbSNP
2g.166272790T>GCA349074700SCN1A-AS1,SCN9Ac.2960A>C (p.Asn987Thr)
c.2927A>C (p.Asn976Thr)
c.1877-292A>C
n.870-4298T>G
c.2573A>C (p.Asn858Thr)
c.2216A>C (p.Asn739Thr)
2g.166272791T>ACA349074703SCN1A-AS1,SCN9Ac.2959A>T (p.Asn987Tyr)
c.2926A>T (p.Asn976Tyr)
c.1877-293A>T
n.870-4297T>A
c.2572A>T (p.Asn858Tyr)
c.2215A>T (p.Asn739Tyr)
2g.166272791T>CCA349074704SCN1A-AS1,SCN9Ac.2959A>G (p.Asn987Asp)
c.2926A>G (p.Asn976Asp)
c.1877-293A>G
n.870-4297T>C
c.2572A>G (p.Asn858Asp)
c.2215A>G (p.Asn739Asp)
2g.166272791T>GCA349074705SCN1A-AS1,SCN9Ac.2959A>C (p.Asn987His)
c.2926A>C (p.Asn976His)
c.1877-293A>C
n.870-4297T>G
c.2572A>C (p.Asn858His)
c.2215A>C (p.Asn739His)
2g.166272792G>ACA429978101SCN1A-AS1,SCN9Ac.2958C>T (p.Asn986=)
c.2925C>T (p.Asn975=)
c.1877-294C>T
n.870-4296G>A
c.2571C>T (p.Asn857=)
c.2214C>T (p.Asn738=)
2g.166272792G>CCA349074707SCN1A-AS1,SCN9Ac.2958C>G (p.Asn986Lys)
c.2925C>G (p.Asn975Lys)
c.1877-294C>G
n.870-4296G>C
c.2571C>G (p.Asn857Lys)
c.2214C>G (p.Asn738Lys)
2g.166272792G>TCA349074709SCN1A-AS1,SCN9Ac.2958C>A (p.Asn986Lys)
c.2925C>A (p.Asn975Lys)
c.1877-294C>A
n.870-4296G>T
c.2571C>A (p.Asn857Lys)
c.2214C>A (p.Asn738Lys)
 gnomAD v4 COSMIC COSMIC
2g.166272793T>ACA349074712SCN1A-AS1,SCN9Ac.2957A>T (p.Asn986Ile)
c.2924A>T (p.Asn975Ile)
c.1877-295A>T
n.870-4295T>A
c.2570A>T (p.Asn857Ile)
c.2213A>T (p.Asn738Ile)
2g.166272793T>CCA349074714SCN1A-AS1,SCN9Ac.2957A>G (p.Asn986Ser)
c.2924A>G (p.Asn975Ser)
c.1877-295A>G
n.870-4295T>C
c.2570A>G (p.Asn857Ser)
c.2213A>G (p.Asn738Ser)
2g.166272793T>GCA349074716SCN1A-AS1,SCN9Ac.2957A>C (p.Asn986Thr)
c.2924A>C (p.Asn975Thr)
c.1877-295A>C
n.870-4295T>G
c.2570A>C (p.Asn857Thr)
c.2213A>C (p.Asn738Thr)
2g.166272794T>ACA349074719SCN1A-AS1,SCN9Ac.2956A>T (p.Asn986Tyr)
c.2923A>T (p.Asn975Tyr)
c.1877-296A>T
n.870-4294T>A
c.2569A>T (p.Asn857Tyr)
c.2212A>T (p.Asn738Tyr)
2g.166272794T>CCA349074720SCN1A-AS1,SCN9Ac.2956A>G (p.Asn986Asp)
c.2923A>G (p.Asn975Asp)
c.1877-296A>G
n.870-4294T>C
c.2569A>G (p.Asn857Asp)
c.2212A>G (p.Asn738Asp)
2g.166272794T>GCA349074722SCN1A-AS1,SCN9Ac.2956A>C (p.Asn986His)
c.2923A>C (p.Asn975His)
c.1877-296A>C
n.870-4294T>G
c.2569A>C (p.Asn857His)
c.2212A>C (p.Asn738His)
2g.166272795T>ACA429978105SCN1A-AS1,SCN9Ac.2955A>T (p.Ala985=)
c.2922A>T (p.Ala974=)
c.1877-297A>T
n.870-4293T>A
c.2568A>T (p.Ala856=)
c.2211A>T (p.Ala737=)
2g.166272795T>CCA429978107SCN1A-AS1,SCN9Ac.2955A>G (p.Ala985=)
c.2922A>G (p.Ala974=)
c.1877-297A>G
n.870-4293T>C
c.2568A>G (p.Ala856=)
c.2211A>G (p.Ala737=)
2g.166272795T>GCA429978106SCN1A-AS1,SCN9Ac.2955A>C (p.Ala985=)
c.2922A>C (p.Ala974=)
c.1877-297A>C
n.870-4293T>G
c.2568A>C (p.Ala856=)
c.2211A>C (p.Ala737=)
2g.166272796G>ACA349074725SCN1A-AS1,SCN9Ac.2954C>T (p.Ala985Val)
c.2921C>T (p.Ala974Val)
c.1877-298C>T
n.870-4292G>A
c.2567C>T (p.Ala856Val)
c.2210C>T (p.Ala737Val)
2g.166272796G>CCA349074726SCN1A-AS1,SCN9Ac.2954C>G (p.Ala985Gly)
c.2921C>G (p.Ala974Gly)
c.1877-298C>G
n.870-4292G>C
c.2567C>G (p.Ala856Gly)
c.2210C>G (p.Ala737Gly)
2g.166272796G>TCA349074728SCN1A-AS1,SCN9Ac.2954C>A (p.Ala985Glu)
c.2921C>A (p.Ala974Glu)
c.1877-298C>A
n.870-4292G>T
c.2567C>A (p.Ala856Glu)
c.2210C>A (p.Ala737Glu)
 gnomAD v4
2g.166272797C>ACA349074731SCN1A-AS1,SCN9Ac.2953G>T (p.Ala985Ser)
c.2920G>T (p.Ala974Ser)
c.1877-299G>T
n.870-4291C>A
c.2566G>T (p.Ala856Ser)
c.2209G>T (p.Ala737Ser)
 gnomAD v4
2g.166272797C>GCA349074732SCN1A-AS1,SCN9Ac.2953G>C (p.Ala985Pro)
c.2920G>C (p.Ala974Pro)
c.1877-299G>C
n.870-4291C>G
c.2566G>C (p.Ala856Pro)
c.2209G>C (p.Ala737Pro)
2g.166272797C>TCA349074734SCN1A-AS1,SCN9Ac.2953G>A (p.Ala985Thr)
c.2920G>A (p.Ala974Thr)
c.1877-299G>A
n.870-4291C>T
c.2566G>A (p.Ala856Thr)
c.2209G>A (p.Ala737Thr)
 ClinVar
2g.166272798A=CA1304962874SCN1A-AS1,SCN9Ac.2952T= (p.Asp984=)
c.2919T= (p.Asp973=)
c.1877-300T=
n.870-4290A=
c.2565T= (p.Asp855=)
c.2208T= (p.Asp736=)
2g.166272798A>CCA349074737SCN1A-AS1,SCN9Ac.2952T>G (p.Asp984Glu)
c.2919T>G (p.Asp973Glu)
c.1877-300T>G
n.870-4290A>C
c.2565T>G (p.Asp855Glu)
c.2208T>G (p.Asp736Glu)
 dbSNP
2g.166272798A>GCA1944161SCN1A-AS1,SCN9Ac.2952T>C (p.Asp984=)
c.2919T>C (p.Asp973=)
c.1877-300T>C
n.870-4290A>G
c.2565T>C (p.Asp855=)
c.2208T>C (p.Asp736=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272798A>TCA349074739SCN1A-AS1,SCN9Ac.2952T>A (p.Asp984Glu)
c.2919T>A (p.Asp973Glu)
c.1877-300T>A
n.870-4290A>T
c.2565T>A (p.Asp855Glu)
c.2208T>A (p.Asp736Glu)
2g.166272799T>ACA349074743SCN1A-AS1,SCN9Ac.2951A>T (p.Asp984Val)
c.2918A>T (p.Asp973Val)
c.1877-301A>T
n.870-4289T>A
c.2564A>T (p.Asp855Val)
c.2207A>T (p.Asp736Val)
n.3419A>T
2g.166272799T>CCA349074745SCN1A-AS1,SCN9Ac.2951A>G (p.Asp984Gly)
c.2918A>G (p.Asp973Gly)
c.1877-301A>G
n.870-4289T>C
c.2564A>G (p.Asp855Gly)
c.2207A>G (p.Asp736Gly)
n.3419A>G
2g.166272799T>GCA349074746SCN1A-AS1,SCN9Ac.2951A>C (p.Asp984Ala)
c.2918A>C (p.Asp973Ala)
c.1877-301A>C
n.870-4289T>G
c.2564A>C (p.Asp855Ala)
c.2207A>C (p.Asp736Ala)
n.3419A>C
2g.166272800C>ACA349074749SCN1A-AS1,SCN9Ac.2950G>T (p.Asp984Tyr)
c.2917G>T (p.Asp973Tyr)
c.1877-302G>T
n.870-4288C>A
c.2563G>T (p.Asp855Tyr)
c.2206G>T (p.Asp736Tyr)
n.3418G>T
 gnomAD v4
2g.166272800C>GCA349074751SCN1A-AS1,SCN9Ac.2950G>C (p.Asp984His)
c.2917G>C (p.Asp973His)
c.1877-302G>C
n.870-4288C>G
c.2563G>C (p.Asp855His)
c.2206G>C (p.Asp736His)
n.3418G>C
2g.166272800C>TCA349074752SCN1A-AS1,SCN9Ac.2950G>A (p.Asp984Asn)
c.2917G>A (p.Asp973Asn)
c.1877-302G>A
n.870-4288C>T
c.2563G>A (p.Asp855Asn)
c.2206G>A (p.Asp736Asn)
n.3418G>A
2g.166272801A>CCA429978118SCN1A-AS1,SCN9Ac.2949T>G (p.Pro983=)
c.2916T>G (p.Pro972=)
c.1877-303T>G
n.870-4287A>C
c.2562T>G (p.Pro854=)
c.2205T>G (p.Pro735=)
n.3417T>G
 gnomAD v4
2g.166272801A>GCA429978119SCN1A-AS1,SCN9Ac.2949T>C (p.Pro983=)
c.2916T>C (p.Pro972=)
c.1877-303T>C
n.870-4287A>G
c.2562T>C (p.Pro854=)
c.2205T>C (p.Pro735=)
n.3417T>C
2g.166272801A>TCA429978120SCN1A-AS1,SCN9Ac.2949T>A (p.Pro983=)
c.2916T>A (p.Pro972=)
c.1877-303T>A
n.870-4287A>T
c.2562T>A (p.Pro854=)
c.2205T>A (p.Pro735=)
n.3417T>A
2g.166272802G>ACA349074759SCN1A-AS1,SCN9Ac.2948C>T (p.Pro983Leu)
c.2915C>T (p.Pro972Leu)
c.1877-304C>T
n.870-4286G>A
c.2561C>T (p.Pro854Leu)
c.2204C>T (p.Pro735Leu)
n.3416C>T
 dbSNP
2g.166272802G>CCA349074755SCN1A-AS1,SCN9Ac.2948C>G (p.Pro983Arg)
c.2915C>G (p.Pro972Arg)
c.1877-304C>G
n.870-4286G>C
c.2561C>G (p.Pro854Arg)
c.2204C>G (p.Pro735Arg)
n.3416C>G
2g.166272802G=CA1304962875SCN1A-AS1,SCN9Ac.2948C= (p.Pro983=)
c.2915C= (p.Pro972=)
c.1877-304C=
n.870-4286G=
c.2561C= (p.Pro854=)
c.2204C= (p.Pro735=)
n.3416C=
2g.166272802G>TCA349074757SCN1A-AS1,SCN9Ac.2948C>A (p.Pro983His)
c.2915C>A (p.Pro972His)
c.1877-304C>A
n.870-4286G>T
c.2561C>A (p.Pro854His)
c.2204C>A (p.Pro735His)
n.3416C>A
2g.166272803G>ACA349074761SCN1A-AS1,SCN9Ac.2947C>T (p.Pro983Ser)
c.2914C>T (p.Pro972Ser)
c.1877-305C>T
n.870-4285G>A
c.2560C>T (p.Pro854Ser)
c.2203C>T (p.Pro735Ser)
n.3415C>T
 gnomAD v4 COSMIC COSMIC
2g.166272803G>CCA349074763SCN1A-AS1,SCN9Ac.2947C>G (p.Pro983Ala)
c.2914C>G (p.Pro972Ala)
c.1877-305C>G
n.870-4285G>C
c.2560C>G (p.Pro854Ala)
c.2203C>G (p.Pro735Ala)
n.3415C>G
 dbSNP
2g.166272803G=CA1304962876SCN1A-AS1,SCN9Ac.2947C= (p.Pro983=)
c.2914C= (p.Pro972=)
c.1877-305C=
n.870-4285G=
c.2560C= (p.Pro854=)
c.2203C= (p.Pro735=)
n.3415C=
2g.166272803G>TCA349074765SCN1A-AS1,SCN9Ac.2947C>A (p.Pro983Thr)
c.2914C>A (p.Pro972Thr)
c.1877-305C>A
n.870-4285G>T
c.2560C>A (p.Pro854Thr)
c.2203C>A (p.Pro735Thr)
n.3415C>A
2g.166272804G>ACA429978125SCN1A-AS1,SCN9Ac.2946C>T (p.Asp982=)
c.2913C>T (p.Asp971=)
c.1877-306C>T
n.870-4284G>A
c.2559C>T (p.Asp853=)
c.2202C>T (p.Asp734=)
n.3414C>T
 dbSNP
2g.166272804G>CCA349074767SCN1A-AS1,SCN9Ac.2946C>G (p.Asp982Glu)
c.2913C>G (p.Asp971Glu)
c.1877-306C>G
n.870-4284G>C
c.2559C>G (p.Asp853Glu)
c.2202C>G (p.Asp734Glu)
n.3414C>G
2g.166272804G=CA1304962877SCN1A-AS1,SCN9Ac.2946C= (p.Asp982=)
c.2913C= (p.Asp971=)
c.1877-306C=
n.870-4284G=
c.2559C= (p.Asp853=)
c.2202C= (p.Asp734=)
n.3414C=
2g.166272804G>TCA349074769SCN1A-AS1,SCN9Ac.2946C>A (p.Asp982Glu)
c.2913C>A (p.Asp971Glu)
c.1877-306C>A
n.870-4284G>T
c.2559C>A (p.Asp853Glu)
c.2202C>A (p.Asp734Glu)
n.3414C>A
 ClinVar
2g.166272805T>ACA349074774SCN1A-AS1,SCN9Ac.2945A>T (p.Asp982Val)
c.2912A>T (p.Asp971Val)
c.1877-307A>T
n.870-4283T>A
c.2558A>T (p.Asp853Val)
c.2201A>T (p.Asp734Val)
n.3413A>T
2g.166272805T>CCA59791822SCN1A-AS1,SCN9Ac.2945A>G (p.Asp982Gly)
c.2912A>G (p.Asp971Gly)
c.1877-307A>G
n.870-4283T>C
c.2558A>G (p.Asp853Gly)
c.2201A>G (p.Asp734Gly)
n.3413A>G
 dbSNP
2g.166272805T>GCA349074773SCN1A-AS1,SCN9Ac.2945A>C (p.Asp982Ala)
c.2912A>C (p.Asp971Ala)
c.1877-307A>C
n.870-4283T>G
c.2558A>C (p.Asp853Ala)
c.2201A>C (p.Asp734Ala)
n.3413A>C
2g.166272805T=CA1304962878SCN1A-AS1,SCN9Ac.2945A= (p.Asp982=)
c.2912A= (p.Asp971=)
c.1877-307A=
n.870-4283T=
c.2558A= (p.Asp853=)
c.2201A= (p.Asp734=)
n.3413A=
2g.166272810_166272812delCA429978126SCN1A-AS1,SCN9Ac.2943_2945del (p.Glu981del)
c.2910_2912del (p.Glu970del)
c.1877-309_1877-307del
n.870-4278_870-4276del
c.2556_2558del (p.Glu852del)
c.2199_2201del (p.Glu733del)
n.3411_3413del
 gnomAD v4
2g.166272806C>ACA349074776SCN1A-AS1,SCN9Ac.2944G>T (p.Asp982Tyr)
c.2911G>T (p.Asp971Tyr)
c.1877-308G>T
n.870-4282C>A
c.2557G>T (p.Asp853Tyr)
c.2200G>T (p.Asp734Tyr)
n.3412G>T
2g.166272806C>GCA349074778SCN1A-AS1,SCN9Ac.2944G>C (p.Asp982His)
c.2911G>C (p.Asp971His)
c.1877-308G>C
n.870-4282C>G
c.2557G>C (p.Asp853His)
c.2200G>C (p.Asp734His)
n.3412G>C
2g.166272806C>TCA349074779SCN1A-AS1,SCN9Ac.2944G>A (p.Asp982Asn)
c.2911G>A (p.Asp971Asn)
c.1877-308G>A
n.870-4282C>T
c.2557G>A (p.Asp853Asn)
c.2200G>A (p.Asp734Asn)
n.3412G>A
2g.166272807T>ACA349074782SCN1A-AS1,SCN9Ac.2943A>T (p.Glu981Asp)
c.2910A>T (p.Glu970Asp)
c.1877-309A>T
n.870-4281T>A
c.2556A>T (p.Glu852Asp)
c.2199A>T (p.Glu733Asp)
n.3411A>T
2g.166272807T>CCA429978132SCN1A-AS1,SCN9Ac.2943A>G (p.Glu981=)
c.2910A>G (p.Glu970=)
c.1877-309A>G
n.870-4281T>C
c.2556A>G (p.Glu852=)
c.2199A>G (p.Glu733=)
n.3411A>G
 gnomAD v4
2g.166272807T>GCA349074783SCN1A-AS1,SCN9Ac.2943A>C (p.Glu981Asp)
c.2910A>C (p.Glu970Asp)
c.1877-309A>C
n.870-4281T>G
c.2556A>C (p.Glu852Asp)
c.2199A>C (p.Glu733Asp)
n.3411A>C
2g.166272808T>ACA349074785SCN1A-AS1,SCN9Ac.2942A>T (p.Glu981Val)
c.2909A>T (p.Glu970Val)
c.1877-310A>T
n.870-4280T>A
c.2555A>T (p.Glu852Val)
c.2198A>T (p.Glu733Val)
n.3410A>T
2g.166272808T>CCA349074787SCN1A-AS1,SCN9Ac.2942A>G (p.Glu981Gly)
c.2909A>G (p.Glu970Gly)
c.1877-310A>G
n.870-4280T>C
c.2555A>G (p.Glu852Gly)
c.2198A>G (p.Glu733Gly)
n.3410A>G
2g.166272808T>GCA349074789SCN1A-AS1,SCN9Ac.2942A>C (p.Glu981Ala)
c.2909A>C (p.Glu970Ala)
c.1877-310A>C
n.870-4280T>G
c.2555A>C (p.Glu852Ala)
c.2198A>C (p.Glu733Ala)
n.3410A>C
2g.166272809C>ACA349074791SCN1A-AS1,SCN9Ac.2941G>T (p.Glu981Ter)
c.2908G>T (p.Glu970Ter)
c.1877-311G>T
n.870-4279C>A
c.2554G>T (p.Glu852Ter)
c.2197G>T (p.Glu733Ter)
n.3409G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272809C=CA1304962879SCN1A-AS1,SCN9Ac.2941G= (p.Glu981=)
c.2908G= (p.Glu970=)
c.1877-311G=
n.870-4279C=
c.2554G= (p.Glu852=)
c.2197G= (p.Glu733=)
n.3409G=
2g.166272809C>GCA349074793SCN1A-AS1,SCN9Ac.2941G>C (p.Glu981Gln)
c.2908G>C (p.Glu970Gln)
c.1877-311G>C
n.870-4279C>G
c.2554G>C (p.Glu852Gln)
c.2197G>C (p.Glu733Gln)
n.3409G>C
2g.166272809C>TCA349074795SCN1A-AS1,SCN9Ac.2941G>A (p.Glu981Lys)
c.2908G>A (p.Glu970Lys)
c.1877-311G>A
n.870-4279C>T
c.2554G>A (p.Glu852Lys)
c.2197G>A (p.Glu733Lys)
n.3409G>A
 COSMIC COSMIC
2g.166272810T>ACA349074796SCN1A-AS1,SCN9Ac.2940A>T (p.Glu980Asp)
c.2907A>T (p.Glu969Asp)
c.1877-312A>T
n.870-4278T>A
c.2553A>T (p.Glu851Asp)
c.2196A>T (p.Glu732Asp)
n.3408A>T
2g.166272810T>CCA429978136SCN1A-AS1,SCN9Ac.2940A>G (p.Glu980=)
c.2907A>G (p.Glu969=)
c.1877-312A>G
n.870-4278T>C
c.2553A>G (p.Glu851=)
c.2196A>G (p.Glu732=)
n.3408A>G
2g.166272810T>GCA349074798SCN1A-AS1,SCN9Ac.2940A>C (p.Glu980Asp)
c.2907A>C (p.Glu969Asp)
c.1877-312A>C
n.870-4278T>G
c.2553A>C (p.Glu851Asp)
c.2196A>C (p.Glu732Asp)
n.3408A>C
2g.166272811T>ACA349074801SCN1A-AS1,SCN9Ac.2939A>T (p.Glu980Val)
c.2906A>T (p.Glu969Val)
c.1877-313A>T
n.870-4277T>A
c.2552A>T (p.Glu851Val)
c.2195A>T (p.Glu732Val)
n.3407A>T
2g.166272811T>CCA349074804SCN1A-AS1,SCN9Ac.2939A>G (p.Glu980Gly)
c.2906A>G (p.Glu969Gly)
c.1877-313A>G
n.870-4277T>C
c.2552A>G (p.Glu851Gly)
c.2195A>G (p.Glu732Gly)
n.3407A>G
 gnomAD v4
2g.166272811T>GCA349074802SCN1A-AS1,SCN9Ac.2939A>C (p.Glu980Ala)
c.2906A>C (p.Glu969Ala)
c.1877-313A>C
n.870-4277T>G
c.2552A>C (p.Glu851Ala)
c.2195A>C (p.Glu732Ala)
n.3407A>C
2g.166272812C>ACA349074807SCN1A-AS1,SCN9Ac.2938G>T (p.Glu980Ter)
c.2905G>T (p.Glu969Ter)
c.1877-314G>T
n.870-4276C>A
c.2551G>T (p.Glu851Ter)
c.2194G>T (p.Glu732Ter)
n.3406G>T
2g.166272812C>GCA349074808SCN1A-AS1,SCN9Ac.2938G>C (p.Glu980Gln)
c.2905G>C (p.Glu969Gln)
c.1877-314G>C
n.870-4276C>G
c.2551G>C (p.Glu851Gln)
c.2194G>C (p.Glu732Gln)
n.3406G>C
2g.166272812C>TCA349074810SCN1A-AS1,SCN9Ac.2938G>A (p.Glu980Lys)
c.2905G>A (p.Glu969Lys)
c.1877-314G>A
n.870-4276C>T
c.2551G>A (p.Glu851Lys)
c.2194G>A (p.Glu732Lys)
n.3406G>A
2g.166272813A>CCA349074812SCN1A-AS1,SCN9Ac.2937T>G (p.Ile979Met)
c.2904T>G (p.Ile968Met)
c.1877-315T>G
n.870-4275A>C
c.2550T>G (p.Ile850Met)
c.2193T>G (p.Ile731Met)
n.3405T>G
2g.166272813A>GCA429978139SCN1A-AS1,SCN9Ac.2937T>C (p.Ile979=)
c.2904T>C (p.Ile968=)
c.1877-315T>C
n.870-4275A>G
c.2550T>C (p.Ile850=)
c.2193T>C (p.Ile731=)
n.3405T>C
2g.166272813A>TCA429978142SCN1A-AS1,SCN9Ac.2937T>A (p.Ile979=)
c.2904T>A (p.Ile968=)
c.1877-315T>A
n.870-4275A>T
c.2550T>A (p.Ile850=)
c.2193T>A (p.Ile731=)
n.3405T>A
2g.166272814A>CCA349074815SCN1A-AS1,SCN9Ac.2936T>G (p.Ile979Ser)
c.2903T>G (p.Ile968Ser)
c.1877-316T>G
n.870-4274A>C
c.2549T>G (p.Ile850Ser)
c.2192T>G (p.Ile731Ser)
n.3404T>G
2g.166272814A>GCA349074817SCN1A-AS1,SCN9Ac.2936T>C (p.Ile979Thr)
c.2903T>C (p.Ile968Thr)
c.1877-316T>C
n.870-4274A>G
c.2549T>C (p.Ile850Thr)
c.2192T>C (p.Ile731Thr)
n.3404T>C
2g.166272814A>TCA349074819SCN1A-AS1,SCN9Ac.2936T>A (p.Ile979Asn)
c.2903T>A (p.Ile968Asn)
c.1877-316T>A
n.870-4274A>T
c.2549T>A (p.Ile850Asn)
c.2192T>A (p.Ile731Asn)
n.3404T>A
2g.166272815T>ACA349074821SCN1A-AS1,SCN9Ac.2935A>T (p.Ile979Phe)
c.2902A>T (p.Ile968Phe)
c.1877-317A>T
n.870-4273T>A
c.2548A>T (p.Ile850Phe)
c.2191A>T (p.Ile731Phe)
n.3403A>T
2g.166272815T>CCA349074822SCN1A-AS1,SCN9Ac.2935A>G (p.Ile979Val)
c.2902A>G (p.Ile968Val)
c.1877-317A>G
n.870-4273T>C
c.2548A>G (p.Ile850Val)
c.2191A>G (p.Ile731Val)
n.3403A>G
2g.166272815T>GCA349074823SCN1A-AS1,SCN9Ac.2935A>C (p.Ile979Leu)
c.2902A>C (p.Ile968Leu)
c.1877-317A>C
n.870-4273T>G
c.2548A>C (p.Ile850Leu)
c.2191A>C (p.Ile731Leu)
n.3403A>C
2g.166272816T>ACA429978150SCN1A-AS1,SCN9Ac.2934A>T (p.Ala978=)
c.2901A>T (p.Ala967=)
c.1877-318A>T
n.870-4272T>A
c.2547A>T (p.Ala849=)
c.2190A>T (p.Ala730=)
n.3402A>T
2g.166272816T>CCA429978146SCN1A-AS1,SCN9Ac.2934A>G (p.Ala978=)
c.2901A>G (p.Ala967=)
c.1877-318A>G
n.870-4272T>C
c.2547A>G (p.Ala849=)
c.2190A>G (p.Ala730=)
n.3402A>G
2g.166272816T>GCA429978147SCN1A-AS1,SCN9Ac.2934A>C (p.Ala978=)
c.2901A>C (p.Ala967=)
c.1877-318A>C
n.870-4272T>G
c.2547A>C (p.Ala849=)
c.2190A>C (p.Ala730=)
n.3402A>C
2g.166272817G>ACA349074825SCN1A-AS1,SCN9Ac.2933C>T (p.Ala978Val)
c.2900C>T (p.Ala967Val)
c.1877-319C>T
n.870-4271G>A
c.2546C>T (p.Ala849Val)
c.2189C>T (p.Ala730Val)
n.3401C>T
2g.166272817G>CCA349074827SCN1A-AS1,SCN9Ac.2933C>G (p.Ala978Gly)
c.2900C>G (p.Ala967Gly)
c.1877-319C>G
n.870-4271G>C
c.2546C>G (p.Ala849Gly)
c.2189C>G (p.Ala730Gly)
n.3401C>G
2g.166272817G>TCA349074829SCN1A-AS1,SCN9Ac.2933C>A (p.Ala978Glu)
c.2900C>A (p.Ala967Glu)
c.1877-319C>A
n.870-4271G>T
c.2546C>A (p.Ala849Glu)
c.2189C>A (p.Ala730Glu)
n.3401C>A
2g.166272818C>ACA349074831SCN1A-AS1,SCN9Ac.2932G>T (p.Ala978Ser)
c.2899G>T (p.Ala967Ser)
c.1877-320G>T
n.870-4270C>A
c.2545G>T (p.Ala849Ser)
c.2188G>T (p.Ala730Ser)
n.3400G>T
2g.166272818C=CA1304962880SCN1A-AS1,SCN9Ac.2932G= (p.Ala978=)
c.2899G= (p.Ala967=)
c.1877-320G=
n.870-4270C=
c.2545G= (p.Ala849=)
c.2188G= (p.Ala730=)
n.3400G=
2g.166272818C>GCA349074835SCN1A-AS1,SCN9Ac.2932G>C (p.Ala978Pro)
c.2899G>C (p.Ala967Pro)
c.1877-320G>C
n.870-4270C>G
c.2545G>C (p.Ala849Pro)
c.2188G>C (p.Ala730Pro)
n.3400G>C
2g.166272818C>TCA349074833SCN1A-AS1,SCN9Ac.2932G>A (p.Ala978Thr)
c.2899G>A (p.Ala967Thr)
c.1877-320G>A
n.870-4270C>T
c.2545G>A (p.Ala849Thr)
c.2188G>A (p.Ala730Thr)
n.3400G>A
 dbSNP gnomAD v2
2g.166272819T>ACA429978153SCN1A-AS1,SCN9Ac.2931A>T (p.Thr977=)
c.2898A>T (p.Thr966=)
c.1877-321A>T
n.870-4269T>A
c.2544A>T (p.Thr848=)
c.2187A>T (p.Thr729=)
n.3399A>T
2g.166272819T>CCA429978154SCN1A-AS1,SCN9Ac.2931A>G (p.Thr977=)
c.2898A>G (p.Thr966=)
c.1877-321A>G
n.870-4269T>C
c.2544A>G (p.Thr848=)
c.2187A>G (p.Thr729=)
n.3399A>G
 ClinVar dbSNP
2g.166272819T>GCA1944162SCN1A-AS1,SCN9Ac.2931A>C (p.Thr977=)
c.2898A>C (p.Thr966=)
c.1877-321A>C
n.870-4269T>G
c.2544A>C (p.Thr848=)
c.2187A>C (p.Thr729=)
n.3399A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272819T=CA1304962881SCN1A-AS1,SCN9Ac.2931A= (p.Thr977=)
c.2898A= (p.Thr966=)
c.1877-321A=
n.870-4269T=
c.2544A= (p.Thr848=)
c.2187A= (p.Thr729=)
n.3399A=
2g.166272820G>ACA349074839SCN1A-AS1,SCN9Ac.2930C>T (p.Thr977Ile)
c.2897C>T (p.Thr966Ile)
c.1877-322C>T
n.870-4268G>A
c.2543C>T (p.Thr848Ile)
c.2186C>T (p.Thr729Ile)
n.3398C>T
2g.166272820G>CCA349074841SCN1A-AS1,SCN9Ac.2930C>G (p.Thr977Arg)
c.2897C>G (p.Thr966Arg)
c.1877-322C>G
n.870-4268G>C
c.2543C>G (p.Thr848Arg)
c.2186C>G (p.Thr729Arg)
n.3398C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272820G=CA1304962882SCN1A-AS1,SCN9Ac.2930C= (p.Thr977=)
c.2897C= (p.Thr966=)
c.1877-322C=
n.870-4268G=
c.2543C= (p.Thr848=)
c.2186C= (p.Thr729=)
n.3398C=
2g.166272820G>TCA349074843SCN1A-AS1,SCN9Ac.2930C>A (p.Thr977Lys)
c.2897C>A (p.Thr966Lys)
c.1877-322C>A
n.870-4268G>T
c.2543C>A (p.Thr848Lys)
c.2186C>A (p.Thr729Lys)
n.3398C>A
 dbSNP gnomAD v3 gnomAD v4
2g.166272821T>ACA349074845SCN1A-AS1,SCN9Ac.2929A>T (p.Thr977Ser)
c.2896A>T (p.Thr966Ser)
c.1877-323A>T
n.870-4267T>A
c.2542A>T (p.Thr848Ser)
c.2185A>T (p.Thr729Ser)
n.3397A>T
2g.166272821T>CCA349074847SCN1A-AS1,SCN9Ac.2929A>G (p.Thr977Ala)
c.2896A>G (p.Thr966Ala)
c.1877-323A>G
n.870-4267T>C
c.2542A>G (p.Thr848Ala)
c.2185A>G (p.Thr729Ala)
n.3397A>G
2g.166272821T>GCA349074849SCN1A-AS1,SCN9Ac.2929A>C (p.Thr977Pro)
c.2896A>C (p.Thr966Pro)
c.1877-323A>C
n.870-4267T>G
c.2542A>C (p.Thr848Pro)
c.2185A>C (p.Thr729Pro)
n.3397A>C
2g.166272822A=CA1304962883SCN1A-AS1,SCN9Ac.2928T= (p.Leu976=)
c.2895T= (p.Leu965=)
c.1877-324T=
n.870-4266A=
c.2541T= (p.Leu847=)
c.2184T= (p.Leu728=)
n.3396T=
2g.166272822A>CCA429978157SCN1A-AS1,SCN9Ac.2928T>G (p.Leu976=)
c.2895T>G (p.Leu965=)
c.1877-324T>G
n.870-4266A>C
c.2541T>G (p.Leu847=)
c.2184T>G (p.Leu728=)
n.3396T>G
2g.166272822A>GCA1944163SCN1A-AS1,SCN9Ac.2928T>C (p.Leu976=)
c.2895T>C (p.Leu965=)
c.1877-324T>C
n.870-4266A>G
c.2541T>C (p.Leu847=)
c.2184T>C (p.Leu728=)
n.3396T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272822A>TCA429978156SCN1A-AS1,SCN9Ac.2928T>A (p.Leu976=)
c.2895T>A (p.Leu965=)
c.1877-324T>A
n.870-4266A>T
c.2541T>A (p.Leu847=)
c.2184T>A (p.Leu728=)
n.3396T>A
2g.166272823A>CCA349074851SCN1A-AS1,SCN9Ac.2927T>G (p.Leu976Arg)
c.2894T>G (p.Leu965Arg)
c.1877-325T>G
n.870-4265A>C
c.2540T>G (p.Leu847Arg)
c.2183T>G (p.Leu728Arg)
n.3395T>G
2g.166272823A>GCA349074853SCN1A-AS1,SCN9Ac.2927T>C (p.Leu976Pro)
c.2894T>C (p.Leu965Pro)
c.1877-325T>C
n.870-4265A>G
c.2540T>C (p.Leu847Pro)
c.2183T>C (p.Leu728Pro)
n.3395T>C
2g.166272823A>TCA349074855SCN1A-AS1,SCN9Ac.2927T>A (p.Leu976His)
c.2894T>A (p.Leu965His)
c.1877-325T>A
n.870-4265A>T
c.2540T>A (p.Leu847His)
c.2183T>A (p.Leu728His)
n.3395T>A

Number of alleles fetched