Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.166272682T>ACA349074081SCN1A-AS1,SCN9Ac.3068A>T (p.Glu1023Val)
c.68A>T (p.Glu23Val)
c.3035A>T (p.Glu1012Val)
c.1877-184A>T
n.870-4406T>A
c.2681A>T (p.Glu894Val)
c.2324A>T (p.Glu775Val)
2g.166272682T>CCA349074082SCN1A-AS1,SCN9Ac.3068A>G (p.Glu1023Gly)
c.68A>G (p.Glu23Gly)
c.3035A>G (p.Glu1012Gly)
c.1877-184A>G
n.870-4406T>C
c.2681A>G (p.Glu894Gly)
c.2324A>G (p.Glu775Gly)
2g.166272682T>GCA349074083SCN1A-AS1,SCN9Ac.3068A>C (p.Glu1023Ala)
c.68A>C (p.Glu23Ala)
c.3035A>C (p.Glu1012Ala)
c.1877-184A>C
n.870-4406T>G
c.2681A>C (p.Glu894Ala)
c.2324A>C (p.Glu775Ala)
2g.166272683C>ACA349074087SCN1A-AS1,SCN9Ac.3067G>T (p.Glu1023Ter)
c.67G>T (p.Glu23Ter)
c.3034G>T (p.Glu1012Ter)
c.1877-185G>T
n.870-4405C>A
c.2680G>T (p.Glu894Ter)
c.2323G>T (p.Glu775Ter)
 dbSNP
2g.166272683C=CA1304962814SCN1A-AS1,SCN9Ac.3067G= (p.Glu1023=)
c.67G= (p.Glu23=)
c.3034G= (p.Glu1012=)
c.1877-185G=
n.870-4405C=
c.2680G= (p.Glu894=)
c.2323G= (p.Glu775=)
2g.166272683C>GCA349074090SCN1A-AS1,SCN9Ac.3067G>C (p.Glu1023Gln)
c.67G>C (p.Glu23Gln)
c.3034G>C (p.Glu1012Gln)
c.1877-185G>C
n.870-4405C>G
c.2680G>C (p.Glu894Gln)
c.2323G>C (p.Glu775Gln)
2g.166272683C>TCA349074094SCN1A-AS1,SCN9Ac.3067G>A (p.Glu1023Lys)
c.67G>A (p.Glu23Lys)
c.3034G>A (p.Glu1012Lys)
c.1877-185G>A
n.870-4405C>T
c.2680G>A (p.Glu894Lys)
c.2323G>A (p.Glu775Lys)
2g.166272684C>ACA349074096SCN1A-AS1,SCN9Ac.3066G>T (p.Arg1022Ser)
c.66G>T (p.Arg22Ser)
c.3033G>T (p.Arg1011Ser)
c.1877-186G>T
n.870-4404C>A
c.2679G>T (p.Arg893Ser)
c.2322G>T (p.Arg774Ser)
2g.166272684C>GCA349074099SCN1A-AS1,SCN9Ac.3066G>C (p.Arg1022Ser)
c.66G>C (p.Arg22Ser)
c.3033G>C (p.Arg1011Ser)
c.1877-186G>C
n.870-4404C>G
c.2679G>C (p.Arg893Ser)
c.2322G>C (p.Arg774Ser)
2g.166272684C>TCA429977931SCN1A-AS1,SCN9Ac.3066G>A (p.Arg1022=)
c.66G>A (p.Arg22=)
c.3033G>A (p.Arg1011=)
c.1877-186G>A
n.870-4404C>T
c.2679G>A (p.Arg893=)
c.2322G>A (p.Arg774=)
2g.166272685C>ACA349074102SCN1A-AS1,SCN9Ac.3065G>T (p.Arg1022Met)
c.65G>T (p.Arg22Met)
c.3032G>T (p.Arg1011Met)
c.1877-187G>T
n.870-4403C>A
c.2678G>T (p.Arg893Met)
c.2321G>T (p.Arg774Met)
 ClinVar dbSNP
2g.166272685C>GCA349074104SCN1A-AS1,SCN9Ac.3065G>C (p.Arg1022Thr)
c.65G>C (p.Arg22Thr)
c.3032G>C (p.Arg1011Thr)
c.1877-187G>C
n.870-4403C>G
c.2678G>C (p.Arg893Thr)
c.2321G>C (p.Arg774Thr)
2g.166272685C>TCA349074107SCN1A-AS1,SCN9Ac.3065G>A (p.Arg1022Lys)
c.65G>A (p.Arg22Lys)
c.3032G>A (p.Arg1011Lys)
c.1877-187G>A
n.870-4403C>T
c.2678G>A (p.Arg893Lys)
c.2321G>A (p.Arg774Lys)
 gnomAD v4
2g.166272686T>ACA1944143SCN1A-AS1,SCN9Ac.3064A>T (p.Arg1022Trp)
c.64A>T (p.Arg22Trp)
c.3031A>T (p.Arg1011Trp)
c.1877-188A>T
n.870-4402T>A
c.2677A>T (p.Arg893Trp)
c.2320A>T (p.Arg774Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272686T>CCA349074112SCN1A-AS1,SCN9Ac.3064A>G (p.Arg1022Gly)
c.64A>G (p.Arg22Gly)
c.3031A>G (p.Arg1011Gly)
c.1877-188A>G
n.870-4402T>C
c.2677A>G (p.Arg893Gly)
c.2320A>G (p.Arg774Gly)
2g.166272686T>GCA429977934SCN1A-AS1,SCN9Ac.3064A>C (p.Arg1022=)
c.64A>C (p.Arg22=)
c.3031A>C (p.Arg1011=)
c.1877-188A>C
n.870-4402T>G
c.2677A>C (p.Arg893=)
c.2320A>C (p.Arg774=)
2g.166272686T=CA1304962815SCN1A-AS1,SCN9Ac.3064A= (p.Arg1022=)
c.64A= (p.Arg22=)
c.3031A= (p.Arg1011=)
c.1877-188A=
n.870-4402T=
c.2677A= (p.Arg893=)
c.2320A= (p.Arg774=)
2g.166272687G>ACA429977935SCN1A-AS1,SCN9Ac.3063C>T (p.Ser1021=)
c.63C>T (p.Ser21=)
c.3030C>T (p.Ser1010=)
c.1877-189C>T
n.870-4401G>A
c.2676C>T (p.Ser892=)
c.2319C>T (p.Ser773=)
 dbSNP
2g.166272687G>CCA429977937SCN1A-AS1,SCN9Ac.3063C>G (p.Ser1021=)
c.63C>G (p.Ser21=)
c.3030C>G (p.Ser1010=)
c.1877-189C>G
n.870-4401G>C
c.2676C>G (p.Ser892=)
c.2319C>G (p.Ser773=)
2g.166272687G=CA1304962816SCN1A-AS1,SCN9Ac.3063C= (p.Ser1021=)
c.63C= (p.Ser21=)
c.3030C= (p.Ser1010=)
c.1877-189C=
n.870-4401G=
c.2676C= (p.Ser892=)
c.2319C= (p.Ser773=)
2g.166272687G>TCA429977939SCN1A-AS1,SCN9Ac.3063C>A (p.Ser1021=)
c.63C>A (p.Ser21=)
c.3030C>A (p.Ser1010=)
c.1877-189C>A
n.870-4401G>T
c.2676C>A (p.Ser892=)
c.2319C>A (p.Ser773=)
 gnomAD v4
2g.166272688G>ACA349074122SCN1A-AS1,SCN9Ac.3062C>T (p.Ser1021Phe)
c.62C>T (p.Ser21Phe)
c.3029C>T (p.Ser1010Phe)
c.1877-190C>T
n.870-4400G>A
c.2675C>T (p.Ser892Phe)
c.2318C>T (p.Ser773Phe)
2g.166272688G>CCA349074117SCN1A-AS1,SCN9Ac.3062C>G (p.Ser1021Cys)
c.62C>G (p.Ser21Cys)
c.3029C>G (p.Ser1010Cys)
c.1877-190C>G
n.870-4400G>C
c.2675C>G (p.Ser892Cys)
c.2318C>G (p.Ser773Cys)
2g.166272688G>TCA349074119SCN1A-AS1,SCN9Ac.3062C>A (p.Ser1021Tyr)
c.62C>A (p.Ser21Tyr)
c.3029C>A (p.Ser1010Tyr)
c.1877-190C>A
n.870-4400G>T
c.2675C>A (p.Ser892Tyr)
c.2318C>A (p.Ser773Tyr)
2g.166272689A>CCA349074126SCN1A-AS1,SCN9Ac.3061T>G (p.Ser1021Ala)
c.61T>G (p.Ser21Ala)
c.3028T>G (p.Ser1010Ala)
c.1877-191T>G
n.870-4399A>C
c.2674T>G (p.Ser892Ala)
c.2317T>G (p.Ser773Ala)
2g.166272689A>GCA349074127SCN1A-AS1,SCN9Ac.3061T>C (p.Ser1021Pro)
c.61T>C (p.Ser21Pro)
c.3028T>C (p.Ser1010Pro)
c.1877-191T>C
n.870-4399A>G
c.2674T>C (p.Ser892Pro)
c.2317T>C (p.Ser773Pro)
2g.166272689A>TCA349074128SCN1A-AS1,SCN9Ac.3061T>A (p.Ser1021Thr)
c.61T>A (p.Ser21Thr)
c.3028T>A (p.Ser1010Thr)
c.1877-191T>A
n.870-4399A>T
c.2674T>A (p.Ser892Thr)
c.2317T>A (p.Ser773Thr)
 COSMIC COSMIC
2g.166272690A=CA1304962817SCN1A-AS1,SCN9Ac.3060T= (p.Ile1020=)
c.60T= (p.Ile20=)
c.3027T= (p.Ile1009=)
c.1877-192T=
n.870-4398A=
c.2673T= (p.Ile891=)
c.2316T= (p.Ile772=)
2g.166272690A>CCA349074133SCN1A-AS1,SCN9Ac.3060T>G (p.Ile1020Met)
c.60T>G (p.Ile20Met)
c.3027T>G (p.Ile1009Met)
c.1877-192T>G
n.870-4398A>C
c.2673T>G (p.Ile891Met)
c.2316T>G (p.Ile772Met)
2g.166272690A>GCA1944144SCN1A-AS1,SCN9Ac.3060T>C (p.Ile1020=)
c.60T>C (p.Ile20=)
c.3027T>C (p.Ile1009=)
c.1877-192T>C
n.870-4398A>G
c.2673T>C (p.Ile891=)
c.2316T>C (p.Ile772=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272690A>TCA429977942SCN1A-AS1,SCN9Ac.3060T>A (p.Ile1020=)
c.60T>A (p.Ile20=)
c.3027T>A (p.Ile1009=)
c.1877-192T>A
n.870-4398A>T
c.2673T>A (p.Ile891=)
c.2316T>A (p.Ile772=)
2g.166272691A>CCA349074139SCN1A-AS1,SCN9Ac.3059T>G (p.Ile1020Ser)
c.59T>G (p.Ile20Ser)
c.3026T>G (p.Ile1009Ser)
c.1877-193T>G
n.870-4397A>C
c.2672T>G (p.Ile891Ser)
c.2315T>G (p.Ile772Ser)
2g.166272691A>GCA349074142SCN1A-AS1,SCN9Ac.3059T>C (p.Ile1020Thr)
c.59T>C (p.Ile20Thr)
c.3026T>C (p.Ile1009Thr)
c.1877-193T>C
n.870-4397A>G
c.2672T>C (p.Ile891Thr)
c.2315T>C (p.Ile772Thr)
 gnomAD v4
2g.166272691A>TCA349074145SCN1A-AS1,SCN9Ac.3059T>A (p.Ile1020Asn)
c.59T>A (p.Ile20Asn)
c.3026T>A (p.Ile1009Asn)
c.1877-193T>A
n.870-4397A>T
c.2672T>A (p.Ile891Asn)
c.2315T>A (p.Ile772Asn)
2g.166272692T>ACA349074148SCN1A-AS1,SCN9Ac.3058A>T (p.Ile1020Phe)
c.58A>T (p.Ile20Phe)
c.3025A>T (p.Ile1009Phe)
c.1877-194A>T
n.870-4396T>A
c.2671A>T (p.Ile891Phe)
c.2314A>T (p.Ile772Phe)
2g.166272692T>CCA349074149SCN1A-AS1,SCN9Ac.3058A>G (p.Ile1020Val)
c.58A>G (p.Ile20Val)
c.3025A>G (p.Ile1009Val)
c.1877-194A>G
n.870-4396T>C
c.2671A>G (p.Ile891Val)
c.2314A>G (p.Ile772Val)
2g.166272692T>GCA349074152SCN1A-AS1,SCN9Ac.3058A>C (p.Ile1020Leu)
c.58A>C (p.Ile20Leu)
c.3025A>C (p.Ile1009Leu)
c.1877-194A>C
n.870-4396T>G
c.2671A>C (p.Ile891Leu)
c.2314A>C (p.Ile772Leu)
2g.166272693C>ACA349074158SCN1A-AS1,SCN9Ac.3057G>T (p.Lys1019Asn)
c.57G>T (p.Lys19Asn)
c.3024G>T (p.Lys1008Asn)
c.1877-195G>T
n.870-4395C>A
c.2670G>T (p.Lys890Asn)
c.2313G>T (p.Lys771Asn)
 gnomAD v4
2g.166272693C=CA1304962818SCN1A-AS1,SCN9Ac.3057G= (p.Lys1019=)
c.57G= (p.Lys19=)
c.3024G= (p.Lys1008=)
c.1877-195G=
n.870-4395C=
c.2670G= (p.Lys890=)
c.2313G= (p.Lys771=)
2g.166272693C>GCA349074155SCN1A-AS1,SCN9Ac.3057G>C (p.Lys1019Asn)
c.57G>C (p.Lys19Asn)
c.3024G>C (p.Lys1008Asn)
c.1877-195G>C
n.870-4395C>G
c.2670G>C (p.Lys890Asn)
c.2313G>C (p.Lys771Asn)
2g.166272693C>TCA59791637SCN1A-AS1,SCN9Ac.3057G>A (p.Lys1019=)
c.57G>A (p.Lys19=)
c.3024G>A (p.Lys1008=)
c.1877-195G>A
n.870-4395C>T
c.2670G>A (p.Lys890=)
c.2313G>A (p.Lys771=)
 ClinVar dbSNP
2g.166272694T>ACA349074160SCN1A-AS1,SCN9Ac.3056A>T (p.Lys1019Met)
c.56A>T (p.Lys19Met)
c.3023A>T (p.Lys1008Met)
c.1877-196A>T
n.870-4394T>A
c.2669A>T (p.Lys890Met)
c.2312A>T (p.Lys771Met)
2g.166272694T>CCA1944145SCN1A-AS1,SCN9Ac.3056A>G (p.Lys1019Arg)
c.56A>G (p.Lys19Arg)
c.3023A>G (p.Lys1008Arg)
c.1877-196A>G
n.870-4394T>C
c.2669A>G (p.Lys890Arg)
c.2312A>G (p.Lys771Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272694T>GCA349074163SCN1A-AS1,SCN9Ac.3056A>C (p.Lys1019Thr)
c.56A>C (p.Lys19Thr)
c.3023A>C (p.Lys1008Thr)
c.1877-196A>C
n.870-4394T>G
c.2669A>C (p.Lys890Thr)
c.2312A>C (p.Lys771Thr)
 gnomAD v4
2g.166272694T=CA1304962819SCN1A-AS1,SCN9Ac.3056A= (p.Lys1019=)
c.56A= (p.Lys19=)
c.3023A= (p.Lys1008=)
c.1877-196A=
n.870-4394T=
c.2669A= (p.Lys890=)
c.2312A= (p.Lys771=)
2g.166272696delCA2661766689SCN1A-AS1,SCN9Ac.3056del (p.Lys1019ArgfsTer6)
c.56del (p.Lys19ArgfsTer6)
c.3023del (p.Lys1008ArgfsTer6)
c.1877-196del
n.870-4392del
c.2669del (p.Lys890ArgfsTer6)
c.2312del (p.Lys771ArgfsTer6)
 gnomAD v4
2g.166272695T>ACA349074168SCN1A-AS1,SCN9Ac.3055A>T (p.Lys1019Ter)
c.55A>T (p.Lys19Ter)
c.3022A>T (p.Lys1008Ter)
c.1877-197A>T
n.870-4393T>A
c.2668A>T (p.Lys890Ter)
c.2311A>T (p.Lys771Ter)
 dbSNP
2g.166272695T>CCA349074171SCN1A-AS1,SCN9Ac.3055A>G (p.Lys1019Glu)
c.55A>G (p.Lys19Glu)
c.3022A>G (p.Lys1008Glu)
c.1877-197A>G
n.870-4393T>C
c.2668A>G (p.Lys890Glu)
c.2311A>G (p.Lys771Glu)
 gnomAD v4
2g.166272695T>GCA349074173SCN1A-AS1,SCN9Ac.3055A>C (p.Lys1019Gln)
c.55A>C (p.Lys19Gln)
c.3022A>C (p.Lys1008Gln)
c.1877-197A>C
n.870-4393T>G
c.2668A>C (p.Lys890Gln)
c.2311A>C (p.Lys771Gln)
2g.166272695T=CA1304962820SCN1A-AS1,SCN9Ac.3055A= (p.Lys1019=)
c.55A= (p.Lys19=)
c.3022A= (p.Lys1008=)
c.1877-197A=
n.870-4393T=
c.2668A= (p.Lys890=)
c.2311A= (p.Lys771=)
2g.166272696T>ACA429977947SCN1A-AS1,SCN9Ac.3054A>T (p.Pro1018=)
c.54A>T (p.Pro18=)
c.3021A>T (p.Pro1007=)
c.1877-198A>T
n.870-4392T>A
c.2667A>T (p.Pro889=)
c.2310A>T (p.Pro770=)
2g.166272696T>CCA429977946SCN1A-AS1,SCN9Ac.3054A>G (p.Pro1018=)
c.54A>G (p.Pro18=)
c.3021A>G (p.Pro1007=)
c.1877-198A>G
n.870-4392T>C
c.2667A>G (p.Pro889=)
c.2310A>G (p.Pro770=)
 dbSNP gnomAD v4
2g.166272696T>GCA429977944SCN1A-AS1,SCN9Ac.3054A>C (p.Pro1018=)
c.54A>C (p.Pro18=)
c.3021A>C (p.Pro1007=)
c.1877-198A>C
n.870-4392T>G
c.2667A>C (p.Pro889=)
c.2310A>C (p.Pro770=)
2g.166272696T=CA1304962821SCN1A-AS1,SCN9Ac.3054A= (p.Pro1018=)
c.54A= (p.Pro18=)
c.3021A= (p.Pro1007=)
c.1877-198A=
n.870-4392T=
c.2667A= (p.Pro889=)
c.2310A= (p.Pro770=)
2g.166272697G>ACA349074176SCN1A-AS1,SCN9Ac.3053C>T (p.Pro1018Leu)
c.53C>T (p.Pro18Leu)
c.3020C>T (p.Pro1007Leu)
c.1877-199C>T
n.870-4391G>A
c.2666C>T (p.Pro889Leu)
c.2309C>T (p.Pro770Leu)
 gnomAD v4
2g.166272697G>CCA349074185SCN1A-AS1,SCN9Ac.3053C>G (p.Pro1018Arg)
c.53C>G (p.Pro18Arg)
c.3020C>G (p.Pro1007Arg)
c.1877-199C>G
n.870-4391G>C
c.2666C>G (p.Pro889Arg)
c.2309C>G (p.Pro770Arg)
2g.166272697G>TCA349074189SCN1A-AS1,SCN9Ac.3053C>A (p.Pro1018Gln)
c.53C>A (p.Pro18Gln)
c.3020C>A (p.Pro1007Gln)
c.1877-199C>A
n.870-4391G>T
c.2666C>A (p.Pro889Gln)
c.2309C>A (p.Pro770Gln)
2g.166272698delCA2661766690SCN1A-AS1,SCN9Ac.3053del (p.Pro1018GlnfsTer7)
c.53del (p.Pro18GlnfsTer7)
c.3020del (p.Pro1007GlnfsTer7)
c.1877-199del
n.870-4390del
c.2666del (p.Pro889GlnfsTer7)
c.2309del (p.Pro770GlnfsTer7)
 gnomAD v4
2g.166272698G>ACA349074194SCN1A-AS1,SCN9Ac.3052C>T (p.Pro1018Ser)
c.52C>T (p.Pro18Ser)
c.3019C>T (p.Pro1007Ser)
c.1877-200C>T
n.870-4390G>A
c.2665C>T (p.Pro889Ser)
c.2308C>T (p.Pro770Ser)
2g.166272698G>CCA349074196SCN1A-AS1,SCN9Ac.3052C>G (p.Pro1018Ala)
c.52C>G (p.Pro18Ala)
c.3019C>G (p.Pro1007Ala)
c.1877-200C>G
n.870-4390G>C
c.2665C>G (p.Pro889Ala)
c.2308C>G (p.Pro770Ala)
2g.166272698G>TCA349074198SCN1A-AS1,SCN9Ac.3052C>A (p.Pro1018Thr)
c.52C>A (p.Pro18Thr)
c.3019C>A (p.Pro1007Thr)
c.1877-200C>A
n.870-4390G>T
c.2665C>A (p.Pro889Thr)
c.2308C>A (p.Pro770Thr)
2g.166272699C>ACA349074200SCN1A-AS1,SCN9Ac.3051G>T (p.Lys1017Asn)
c.51G>T (p.Lys17Asn)
c.3018G>T (p.Lys1006Asn)
c.1877-201G>T
n.870-4389C>A
c.2664G>T (p.Lys888Asn)
c.2307G>T (p.Lys769Asn)
2g.166272699C=CA1304962822SCN1A-AS1,SCN9Ac.3051G= (p.Lys1017=)
c.51G= (p.Lys17=)
c.3018G= (p.Lys1006=)
c.1877-201G=
n.870-4389C=
c.2664G= (p.Lys888=)
c.2307G= (p.Lys769=)
2g.166272699C>GCA1944146SCN1A-AS1,SCN9Ac.3051G>C (p.Lys1017Asn)
c.51G>C (p.Lys17Asn)
c.3018G>C (p.Lys1006Asn)
c.1877-201G>C
n.870-4389C>G
c.2664G>C (p.Lys888Asn)
c.2307G>C (p.Lys769Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272699C>TCA429977948SCN1A-AS1,SCN9Ac.3051G>A (p.Lys1017=)
c.51G>A (p.Lys17=)
c.3018G>A (p.Lys1006=)
c.1877-201G>A
n.870-4389C>T
c.2664G>A (p.Lys888=)
c.2307G>A (p.Lys769=)
 gnomAD v4
2g.166272700T>ACA349074211SCN1A-AS1,SCN9Ac.3050A>T (p.Lys1017Met)
c.50A>T (p.Lys17Met)
c.3017A>T (p.Lys1006Met)
c.1877-202A>T
n.870-4388T>A
c.2663A>T (p.Lys888Met)
c.2306A>T (p.Lys769Met)
 gnomAD v4
2g.166272700T>CCA349074208SCN1A-AS1,SCN9Ac.3050A>G (p.Lys1017Arg)
c.50A>G (p.Lys17Arg)
c.3017A>G (p.Lys1006Arg)
c.1877-202A>G
n.870-4388T>C
c.2663A>G (p.Lys888Arg)
c.2306A>G (p.Lys769Arg)
2g.166272700T>GCA349074206SCN1A-AS1,SCN9Ac.3050A>C (p.Lys1017Thr)
c.50A>C (p.Lys17Thr)
c.3017A>C (p.Lys1006Thr)
c.1877-202A>C
n.870-4388T>G
c.2663A>C (p.Lys888Thr)
c.2306A>C (p.Lys769Thr)
 gnomAD v4
2g.166272701T>ACA349074213SCN1A-AS1,SCN9Ac.3049A>T (p.Lys1017Ter)
c.49A>T (p.Lys17Ter)
c.3016A>T (p.Lys1006Ter)
c.1877-203A>T
n.870-4387T>A
c.2662A>T (p.Lys888Ter)
c.2305A>T (p.Lys769Ter)
2g.166272701T>CCA349074217SCN1A-AS1,SCN9Ac.3049A>G (p.Lys1017Glu)
c.49A>G (p.Lys17Glu)
c.3016A>G (p.Lys1006Glu)
c.1877-203A>G
n.870-4387T>C
c.2662A>G (p.Lys888Glu)
c.2305A>G (p.Lys769Glu)
2g.166272701T>GCA349074220SCN1A-AS1,SCN9Ac.3049A>C (p.Lys1017Gln)
c.49A>C (p.Lys17Gln)
c.3016A>C (p.Lys1006Gln)
c.1877-203A>C
n.870-4387T>G
c.2662A>C (p.Lys888Gln)
c.2305A>C (p.Lys769Gln)
2g.166272702T>ACA349074224SCN1A-AS1,SCN9Ac.3048A>T (p.Lys1016Asn)
c.48A>T (p.Lys16Asn)
c.3015A>T (p.Lys1005Asn)
c.1877-204A>T
n.870-4386T>A
c.2661A>T (p.Lys887Asn)
c.2304A>T (p.Lys768Asn)
2g.166272702T>CCA429977956SCN1A-AS1,SCN9Ac.3048A>G (p.Lys1016=)
c.48A>G (p.Lys16=)
c.3015A>G (p.Lys1005=)
c.1877-204A>G
n.870-4386T>C
c.2661A>G (p.Lys887=)
c.2304A>G (p.Lys768=)
2g.166272702T>GCA349074228SCN1A-AS1,SCN9Ac.3048A>C (p.Lys1016Asn)
c.48A>C (p.Lys16Asn)
c.3015A>C (p.Lys1005Asn)
c.1877-204A>C
n.870-4386T>G
c.2661A>C (p.Lys887Asn)
c.2304A>C (p.Lys768Asn)
2g.166272703T>ACA349074231SCN1A-AS1,SCN9Ac.3047A>T (p.Lys1016Ile)
c.47A>T (p.Lys16Ile)
c.3014A>T (p.Lys1005Ile)
c.1877-205A>T
n.870-4385T>A
c.2660A>T (p.Lys887Ile)
c.2303A>T (p.Lys768Ile)
2g.166272703T>CCA349074234SCN1A-AS1,SCN9Ac.3047A>G (p.Lys1016Arg)
c.47A>G (p.Lys16Arg)
c.3014A>G (p.Lys1005Arg)
c.1877-205A>G
n.870-4385T>C
c.2660A>G (p.Lys887Arg)
c.2303A>G (p.Lys768Arg)
2g.166272703T>GCA1944147SCN1A-AS1,SCN9Ac.3047A>C (p.Lys1016Thr)
c.47A>C (p.Lys16Thr)
c.3014A>C (p.Lys1005Thr)
c.1877-205A>C
n.870-4385T>G
c.2660A>C (p.Lys887Thr)
c.2303A>C (p.Lys768Thr)
 dbSNP ExAC gnomAD v4
2g.166272703T=CA1304962823SCN1A-AS1,SCN9Ac.3047A= (p.Lys1016=)
c.47A= (p.Lys16=)
c.3014A= (p.Lys1005=)
c.1877-205A=
n.870-4385T=
c.2660A= (p.Lys887=)
c.2303A= (p.Lys768=)
2g.166272704T>ACA349074238SCN1A-AS1,SCN9Ac.3046A>T (p.Lys1016Ter)
c.46A>T (p.Lys16Ter)
c.3013A>T (p.Lys1005Ter)
c.1877-206A>T
n.870-4384T>A
c.2659A>T (p.Lys887Ter)
c.2302A>T (p.Lys768Ter)
 dbSNP
2g.166272704T>CCA349074240SCN1A-AS1,SCN9Ac.3046A>G (p.Lys1016Glu)
c.46A>G (p.Lys16Glu)
c.3013A>G (p.Lys1005Glu)
c.1877-206A>G
n.870-4384T>C
c.2659A>G (p.Lys887Glu)
c.2302A>G (p.Lys768Glu)
 gnomAD v4
2g.166272704T>GCA349074242SCN1A-AS1,SCN9Ac.3046A>C (p.Lys1016Gln)
c.46A>C (p.Lys16Gln)
c.3013A>C (p.Lys1005Gln)
c.1877-206A>C
n.870-4384T>G
c.2659A>C (p.Lys887Gln)
c.2302A>C (p.Lys768Gln)
2g.166272704T=CA1304962824SCN1A-AS1,SCN9Ac.3046A= (p.Lys1016=)
c.46A= (p.Lys16=)
c.3013A= (p.Lys1005=)
c.1877-206A=
n.870-4384T=
c.2659A= (p.Lys887=)
c.2302A= (p.Lys768=)
2g.166272705G>ACA59791662SCN1A-AS1,SCN9Ac.3045C>T (p.Ser1015=)
c.45C>T (p.Ser15=)
c.3012C>T (p.Ser1004=)
c.1877-207C>T
n.870-4383G>A
c.2658C>T (p.Ser886=)
c.2301C>T (p.Ser767=)
 ClinVar dbSNP COSMIC COSMIC
2g.166272705G>CCA429977961SCN1A-AS1,SCN9Ac.3045C>G (p.Ser1015=)
c.45C>G (p.Ser15=)
c.3012C>G (p.Ser1004=)
c.1877-207C>G
n.870-4383G>C
c.2658C>G (p.Ser886=)
c.2301C>G (p.Ser767=)
2g.166272705G=CA1304962825SCN1A-AS1,SCN9Ac.3045C= (p.Ser1015=)
c.45C= (p.Ser15=)
c.3012C= (p.Ser1004=)
c.1877-207C=
n.870-4383G=
c.2658C= (p.Ser886=)
c.2301C= (p.Ser767=)
2g.166272705G>TCA429977962SCN1A-AS1,SCN9Ac.3045C>A (p.Ser1015=)
c.45C>A (p.Ser15=)
c.3012C>A (p.Ser1004=)
c.1877-207C>A
n.870-4383G>T
c.2658C>A (p.Ser886=)
c.2301C>A (p.Ser767=)
2g.166272706G>ACA1944149SCN1A-AS1,SCN9Ac.3044C>T (p.Ser1015Phe)
c.44C>T (p.Ser15Phe)
c.3011C>T (p.Ser1004Phe)
c.1877-208C>T
n.870-4382G>A
c.2657C>T (p.Ser886Phe)
c.2300C>T (p.Ser767Phe)
 dbSNP ExAC gnomAD v2
2g.166272706G>CCA1944148SCN1A-AS1,SCN9Ac.3044C>G (p.Ser1015Cys)
c.44C>G (p.Ser15Cys)
c.3011C>G (p.Ser1004Cys)
c.1877-208C>G
n.870-4382G>C
c.2657C>G (p.Ser886Cys)
c.2300C>G (p.Ser767Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272706G=CA1304962826SCN1A-AS1,SCN9Ac.3044C= (p.Ser1015=)
c.44C= (p.Ser15=)
c.3011C= (p.Ser1004=)
c.1877-208C=
n.870-4382G=
c.2657C= (p.Ser886=)
c.2300C= (p.Ser767=)
2g.166272706G>TCA349074251SCN1A-AS1,SCN9Ac.3044C>A (p.Ser1015Tyr)
c.44C>A (p.Ser15Tyr)
c.3011C>A (p.Ser1004Tyr)
c.1877-208C>A
n.870-4382G>T
c.2657C>A (p.Ser886Tyr)
c.2300C>A (p.Ser767Tyr)
 gnomAD v4
2g.166272707A>CCA349074257SCN1A-AS1,SCN9Ac.3043T>G (p.Ser1015Ala)
c.43T>G (p.Ser15Ala)
c.3010T>G (p.Ser1004Ala)
c.1877-209T>G
n.870-4381A>C
c.2656T>G (p.Ser886Ala)
c.2299T>G (p.Ser767Ala)
2g.166272707A>GCA349074259SCN1A-AS1,SCN9Ac.3043T>C (p.Ser1015Pro)
c.43T>C (p.Ser15Pro)
c.3010T>C (p.Ser1004Pro)
c.1877-209T>C
n.870-4381A>G
c.2656T>C (p.Ser886Pro)
c.2299T>C (p.Ser767Pro)
 ClinVar
2g.166272707A>TCA349074261SCN1A-AS1,SCN9Ac.3043T>A (p.Ser1015Thr)
c.43T>A (p.Ser15Thr)
c.3010T>A (p.Ser1004Thr)
c.1877-209T>A
n.870-4381A>T
c.2656T>A (p.Ser886Thr)
c.2299T>A (p.Ser767Thr)
2g.166272710delCA2552926038SCN1A-AS1,SCN9Ac.3043del (p.Ser1015ProfsTer10)
c.43del (p.Ser15ProfsTer10)
c.3010del (p.Ser1004ProfsTer10)
c.1877-209del
n.870-4378del
c.2656del (p.Ser886ProfsTer10)
c.2299del (p.Ser767ProfsTer10)
 gnomAD v4
2g.166272708A>CCA349074264SCN1A-AS1,SCN9Ac.3042T>G (p.Phe1014Leu)
c.42T>G (p.Phe14Leu)
c.3009T>G (p.Phe1003Leu)
c.1877-210T>G
n.870-4380A>C
c.2655T>G (p.Phe885Leu)
c.2298T>G (p.Phe766Leu)
2g.166272708A>GCA429977967SCN1A-AS1,SCN9Ac.3042T>C (p.Phe1014=)
c.42T>C (p.Phe14=)
c.3009T>C (p.Phe1003=)
c.1877-210T>C
n.870-4380A>G
c.2655T>C (p.Phe885=)
c.2298T>C (p.Phe766=)
2g.166272708A>TCA349074265SCN1A-AS1,SCN9Ac.3042T>A (p.Phe1014Leu)
c.42T>A (p.Phe14Leu)
c.3009T>A (p.Phe1003Leu)
c.1877-210T>A
n.870-4380A>T
c.2655T>A (p.Phe885Leu)
c.2298T>A (p.Phe766Leu)
2g.166272709A>CCA349074269SCN1A-AS1,SCN9Ac.3041T>G (p.Phe1014Cys)
c.41T>G (p.Phe14Cys)
c.3008T>G (p.Phe1003Cys)
c.1877-211T>G
n.870-4379A>C
c.2654T>G (p.Phe885Cys)
c.2297T>G (p.Phe766Cys)
2g.166272709A>GCA349074272SCN1A-AS1,SCN9Ac.3041T>C (p.Phe1014Ser)
c.41T>C (p.Phe14Ser)
c.3008T>C (p.Phe1003Ser)
c.1877-211T>C
n.870-4379A>G
c.2654T>C (p.Phe885Ser)
c.2297T>C (p.Phe766Ser)
 gnomAD v4
2g.166272709A>TCA349074275SCN1A-AS1,SCN9Ac.3041T>A (p.Phe1014Tyr)
c.41T>A (p.Phe14Tyr)
c.3008T>A (p.Phe1003Tyr)
c.1877-211T>A
n.870-4379A>T
c.2654T>A (p.Phe885Tyr)
c.2297T>A (p.Phe766Tyr)
2g.166272710A=CA1304962827SCN1A-AS1,SCN9Ac.3040T= (p.Phe1014=)
c.40T= (p.Phe14=)
c.3007T= (p.Phe1003=)
c.1877-212T=
n.870-4378A=
c.2653T= (p.Phe885=)
c.2296T= (p.Phe766=)
2g.166272710A>CCA349074279SCN1A-AS1,SCN9Ac.3040T>G (p.Phe1014Val)
c.40T>G (p.Phe14Val)
c.3007T>G (p.Phe1003Val)
c.1877-212T>G
n.870-4378A>C
c.2653T>G (p.Phe885Val)
c.2296T>G (p.Phe766Val)
2g.166272710A>GCA349074283SCN1A-AS1,SCN9Ac.3040T>C (p.Phe1014Leu)
c.40T>C (p.Phe14Leu)
c.3007T>C (p.Phe1003Leu)
c.1877-212T>C
n.870-4378A>G
c.2653T>C (p.Phe885Leu)
c.2296T>C (p.Phe766Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.166272710A>TCA349074286SCN1A-AS1,SCN9Ac.3040T>A (p.Phe1014Ile)
c.40T>A (p.Phe14Ile)
c.3007T>A (p.Phe1003Ile)
c.1877-212T>A
n.870-4378A>T
c.2653T>A (p.Phe885Ile)
c.2296T>A (p.Phe766Ile)
2g.166272711T>ACA429977970SCN1A-AS1,SCN9Ac.3039A>T (p.Ala1013=)
c.39A>T (p.Ala13=)
c.3006A>T (p.Ala1002=)
c.1877-213A>T
n.870-4377T>A
c.2652A>T (p.Ala884=)
c.2295A>T (p.Ala765=)
2g.166272711T>CCA59791702SCN1A-AS1,SCN9Ac.3039A>G (p.Ala1013=)
c.39A>G (p.Ala13=)
c.3006A>G (p.Ala1002=)
c.1877-213A>G
n.870-4377T>C
c.2652A>G (p.Ala884=)
c.2295A>G (p.Ala765=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272711T>GCA429977976SCN1A-AS1,SCN9Ac.3039A>C (p.Ala1013=)
c.39A>C (p.Ala13=)
c.3006A>C (p.Ala1002=)
c.1877-213A>C
n.870-4377T>G
c.2652A>C (p.Ala884=)
c.2295A>C (p.Ala765=)
2g.166272711T=CA1304962828SCN1A-AS1,SCN9Ac.3039A= (p.Ala1013=)
c.39A= (p.Ala13=)
c.3006A= (p.Ala1002=)
c.1877-213A=
n.870-4377T=
c.2652A= (p.Ala884=)
c.2295A= (p.Ala765=)
2g.166272712G>ACA59791708SCN1A-AS1,SCN9Ac.3038C>T (p.Ala1013Val)
c.38C>T (p.Ala13Val)
c.3005C>T (p.Ala1002Val)
c.1877-214C>T
n.870-4376G>A
c.2651C>T (p.Ala884Val)
c.2294C>T (p.Ala765Val)
 ClinVar dbSNP
2g.166272712G>CCA349074298SCN1A-AS1,SCN9Ac.3038C>G (p.Ala1013Gly)
c.38C>G (p.Ala13Gly)
c.3005C>G (p.Ala1002Gly)
c.1877-214C>G
n.870-4376G>C
c.2651C>G (p.Ala884Gly)
c.2294C>G (p.Ala765Gly)
 dbSNP
2g.166272712G=CA1304962829SCN1A-AS1,SCN9Ac.3038C= (p.Ala1013=)
c.38C= (p.Ala13=)
c.3005C= (p.Ala1002=)
c.1877-214C=
n.870-4376G=
c.2651C= (p.Ala884=)
c.2294C= (p.Ala765=)
2g.166272712G>TCA59791707SCN1A-AS1,SCN9Ac.3038C>A (p.Ala1013Glu)
c.38C>A (p.Ala13Glu)
c.3005C>A (p.Ala1002Glu)
c.1877-214C>A
n.870-4376G>T
c.2651C>A (p.Ala884Glu)
c.2294C>A (p.Ala765Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272713C>ACA349074303SCN1A-AS1,SCN9Ac.3037G>T (p.Ala1013Ser)
c.37G>T (p.Ala13Ser)
c.3004G>T (p.Ala1002Ser)
c.1877-215G>T
n.870-4375C>A
c.2650G>T (p.Ala884Ser)
c.2293G>T (p.Ala765Ser)
2g.166272713C>GCA349074307SCN1A-AS1,SCN9Ac.3037G>C (p.Ala1013Pro)
c.37G>C (p.Ala13Pro)
c.3004G>C (p.Ala1002Pro)
c.1877-215G>C
n.870-4375C>G
c.2650G>C (p.Ala884Pro)
c.2293G>C (p.Ala765Pro)
2g.166272713C>TCA349074310SCN1A-AS1,SCN9Ac.3037G>A (p.Ala1013Thr)
c.37G>A (p.Ala13Thr)
c.3004G>A (p.Ala1002Thr)
c.1877-215G>A
n.870-4375C>T
c.2650G>A (p.Ala884Thr)
c.2293G>A (p.Ala765Thr)
 gnomAD v4
2g.166272714T>ACA349074315SCN1A-AS1,SCN9Ac.3036A>T (p.Lys1012Asn)
c.36A>T (p.Lys12Asn)
c.3003A>T (p.Lys1001Asn)
c.1877-216A>T
n.870-4374T>A
c.2649A>T (p.Lys883Asn)
c.2292A>T (p.Lys764Asn)
2g.166272714T>CCA1944150SCN1A-AS1,SCN9Ac.3036A>G (p.Lys1012=)
c.36A>G (p.Lys12=)
c.3003A>G (p.Lys1001=)
c.1877-216A>G
n.870-4374T>C
c.2649A>G (p.Lys883=)
c.2292A>G (p.Lys764=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272714T>GCA349074318SCN1A-AS1,SCN9Ac.3036A>C (p.Lys1012Asn)
c.36A>C (p.Lys12Asn)
c.3003A>C (p.Lys1001Asn)
c.1877-216A>C
n.870-4374T>G
c.2649A>C (p.Lys883Asn)
c.2292A>C (p.Lys764Asn)
2g.166272714T=CA1304962830SCN1A-AS1,SCN9Ac.3036A= (p.Lys1012=)
c.36A= (p.Lys12=)
c.3003A= (p.Lys1001=)
c.1877-216A=
n.870-4374T=
c.2649A= (p.Lys883=)
c.2292A= (p.Lys764=)
2g.166272715T>ACA349074321SCN1A-AS1,SCN9Ac.3035A>T (p.Lys1012Ile)
c.35A>T (p.Lys12Ile)
c.3002A>T (p.Lys1001Ile)
c.1877-217A>T
n.870-4373T>A
c.2648A>T (p.Lys883Ile)
c.2291A>T (p.Lys764Ile)
2g.166272715T>CCA349074326SCN1A-AS1,SCN9Ac.3035A>G (p.Lys1012Arg)
c.35A>G (p.Lys12Arg)
c.3002A>G (p.Lys1001Arg)
c.1877-217A>G
n.870-4373T>C
c.2648A>G (p.Lys883Arg)
c.2291A>G (p.Lys764Arg)
2g.166272715T>GCA349074323SCN1A-AS1,SCN9Ac.3035A>C (p.Lys1012Thr)
c.35A>C (p.Lys12Thr)
c.3002A>C (p.Lys1001Thr)
c.1877-217A>C
n.870-4373T>G
c.2648A>C (p.Lys883Thr)
c.2291A>C (p.Lys764Thr)
 gnomAD v4
2g.166272716T>ACA349074328SCN1A-AS1,SCN9Ac.3034A>T (p.Lys1012Ter)
c.34A>T (p.Lys12Ter)
c.3001A>T (p.Lys1001Ter)
c.1877-218A>T
n.870-4372T>A
c.2647A>T (p.Lys883Ter)
c.2290A>T (p.Lys764Ter)
 dbSNP
2g.166272716T>CCA349074329SCN1A-AS1,SCN9Ac.3034A>G (p.Lys1012Glu)
c.34A>G (p.Lys12Glu)
c.3001A>G (p.Lys1001Glu)
c.1877-218A>G
n.870-4372T>C
c.2647A>G (p.Lys883Glu)
c.2290A>G (p.Lys764Glu)
2g.166272716T>GCA349074332SCN1A-AS1,SCN9Ac.3034A>C (p.Lys1012Gln)
c.34A>C (p.Lys12Gln)
c.3001A>C (p.Lys1001Gln)
c.1877-218A>C
n.870-4372T>G
c.2647A>C (p.Lys883Gln)
c.2290A>C (p.Lys764Gln)
2g.166272716T=CA1304962831SCN1A-AS1,SCN9Ac.3034A= (p.Lys1012=)
c.34A= (p.Lys12=)
c.3001A= (p.Lys1001=)
c.1877-218A=
n.870-4372T=
c.2647A= (p.Lys883=)
c.2290A= (p.Lys764=)
2g.166272717T>ACA429977980SCN1A-AS1,SCN9Ac.3033A>T (p.Leu1011=)
c.33A>T (p.Leu11=)
c.3000A>T (p.Leu1000=)
c.1877-219A>T
n.870-4371T>A
c.2646A>T (p.Leu882=)
c.2289A>T (p.Leu763=)
2g.166272717T>CCA59791709SCN1A-AS1,SCN9Ac.3033A>G (p.Leu1011=)
c.33A>G (p.Leu11=)
c.3000A>G (p.Leu1000=)
c.1877-219A>G
n.870-4371T>C
c.2646A>G (p.Leu882=)
c.2289A>G (p.Leu763=)
 dbSNP gnomAD v4
2g.166272717T>GCA429977981SCN1A-AS1,SCN9Ac.3033A>C (p.Leu1011=)
c.33A>C (p.Leu11=)
c.3000A>C (p.Leu1000=)
c.1877-219A>C
n.870-4371T>G
c.2646A>C (p.Leu882=)
c.2289A>C (p.Leu763=)
2g.166272717T=CA1304962832SCN1A-AS1,SCN9Ac.3033A= (p.Leu1011=)
c.33A= (p.Leu11=)
c.3000A= (p.Leu1000=)
c.1877-219A=
n.870-4371T=
c.2646A= (p.Leu882=)
c.2289A= (p.Leu763=)
2g.166272718A=CA1304962833SCN1A-AS1,SCN9Ac.3032T= (p.Leu1011=)
c.32T= (p.Leu11=)
c.2999T= (p.Leu1000=)
c.1877-220T=
n.870-4370A=
c.2645T= (p.Leu882=)
c.2288T= (p.Leu763=)
2g.166272718A>CCA349074337SCN1A-AS1,SCN9Ac.3032T>G (p.Leu1011Arg)
c.32T>G (p.Leu11Arg)
c.2999T>G (p.Leu1000Arg)
c.1877-220T>G
n.870-4370A>C
c.2645T>G (p.Leu882Arg)
c.2288T>G (p.Leu763Arg)
2g.166272718A>GCA59791717SCN1A-AS1,SCN9Ac.3032T>C (p.Leu1011Pro)
c.32T>C (p.Leu11Pro)
c.2999T>C (p.Leu1000Pro)
c.1877-220T>C
n.870-4370A>G
c.2645T>C (p.Leu882Pro)
c.2288T>C (p.Leu763Pro)
 ClinVar dbSNP
2g.166272718A>TCA349074341SCN1A-AS1,SCN9Ac.3032T>A (p.Leu1011Gln)
c.32T>A (p.Leu11Gln)
c.2999T>A (p.Leu1000Gln)
c.1877-220T>A
n.870-4370A>T
c.2645T>A (p.Leu882Gln)
c.2288T>A (p.Leu763Gln)
2g.166272719G>ACA429977982SCN1A-AS1,SCN9Ac.3031C>T (p.Leu1011=)
c.31C>T (p.Leu11=)
c.2998C>T (p.Leu1000=)
c.1877-221C>T
n.870-4369G>A
c.2644C>T (p.Leu882=)
c.2287C>T (p.Leu763=)
 gnomAD v4
2g.166272719G>CCA1944151SCN1A-AS1,SCN9Ac.3031C>G (p.Leu1011Val)
c.31C>G (p.Leu11Val)
c.2998C>G (p.Leu1000Val)
c.1877-221C>G
n.870-4369G>C
c.2644C>G (p.Leu882Val)
c.2287C>G (p.Leu763Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272719G=CA1304962834SCN1A-AS1,SCN9Ac.3031C= (p.Leu1011=)
c.31C= (p.Leu11=)
c.2998C= (p.Leu1000=)
c.1877-221C=
n.870-4369G=
c.2644C= (p.Leu882=)
c.2287C= (p.Leu763=)
2g.166272719G>TCA349074358SCN1A-AS1,SCN9Ac.3031C>A (p.Leu1011Ile)
c.31C>A (p.Leu11Ile)
c.2998C>A (p.Leu1000Ile)
c.1877-221C>A
n.870-4369G>T
c.2644C>A (p.Leu882Ile)
c.2287C>A (p.Leu763Ile)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.166272720A>CCA349074363SCN1A-AS1,SCN9Ac.3030T>G (p.Ile1010Met)
c.30T>G (p.Ile10Met)
c.2997T>G (p.Ile999Met)
c.1877-222T>G
n.870-4368A>C
c.2643T>G (p.Ile881Met)
c.2286T>G (p.Ile762Met)
2g.166272720A>GCA429977985SCN1A-AS1,SCN9Ac.3030T>C (p.Ile1010=)
c.30T>C (p.Ile10=)
c.2997T>C (p.Ile999=)
c.1877-222T>C
n.870-4368A>G
c.2643T>C (p.Ile881=)
c.2286T>C (p.Ile762=)
2g.166272720A>TCA429977984SCN1A-AS1,SCN9Ac.3030T>A (p.Ile1010=)
c.30T>A (p.Ile10=)
c.2997T>A (p.Ile999=)
c.1877-222T>A
n.870-4368A>T
c.2643T>A (p.Ile881=)
c.2286T>A (p.Ile762=)
2g.166272721A>CCA349074366SCN1A-AS1,SCN9Ac.3029T>G (p.Ile1010Ser)
c.29T>G (p.Ile10Ser)
c.2996T>G (p.Ile999Ser)
c.1877-223T>G
n.870-4367A>C
c.2642T>G (p.Ile881Ser)
c.2285T>G (p.Ile762Ser)
2g.166272721A>GCA349074368SCN1A-AS1,SCN9Ac.3029T>C (p.Ile1010Thr)
c.29T>C (p.Ile10Thr)
c.2996T>C (p.Ile999Thr)
c.1877-223T>C
n.870-4367A>G
c.2642T>C (p.Ile881Thr)
c.2285T>C (p.Ile762Thr)
2g.166272721A>TCA349074371SCN1A-AS1,SCN9Ac.3029T>A (p.Ile1010Asn)
c.29T>A (p.Ile10Asn)
c.2996T>A (p.Ile999Asn)
c.1877-223T>A
n.870-4367A>T
c.2642T>A (p.Ile881Asn)
c.2285T>A (p.Ile762Asn)
2g.166272722T>ACA349074376SCN1A-AS1,SCN9Ac.3028A>T (p.Ile1010Phe)
c.28A>T (p.Ile10Phe)
c.2995A>T (p.Ile999Phe)
c.1877-224A>T
n.870-4366T>A
c.2641A>T (p.Ile881Phe)
c.2284A>T (p.Ile762Phe)
2g.166272722T>CCA1944152SCN1A-AS1,SCN9Ac.3028A>G (p.Ile1010Val)
c.28A>G (p.Ile10Val)
c.2995A>G (p.Ile999Val)
c.1877-224A>G
n.870-4366T>C
c.2641A>G (p.Ile881Val)
c.2284A>G (p.Ile762Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272722T>GCA349074383SCN1A-AS1,SCN9Ac.3028A>C (p.Ile1010Leu)
c.28A>C (p.Ile10Leu)
c.2995A>C (p.Ile999Leu)
c.1877-224A>C
n.870-4366T>G
c.2641A>C (p.Ile881Leu)
c.2284A>C (p.Ile762Leu)
2g.166272722T=CA1304962835SCN1A-AS1,SCN9Ac.3028A= (p.Ile1010=)
c.28A= (p.Ile10=)
c.2995A= (p.Ile999=)
c.1877-224A=
n.870-4366T=
c.2641A= (p.Ile881=)
c.2284A= (p.Ile762=)
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)

Number of alleles fetched