Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166272634G>ACA349073802SCN1A-AS1,SCN9Ac.3116C>T (p.Ser1039Phe)
c.116C>T (p.Ser39Phe)
c.3083C>T (p.Ser1028Phe)
c.1877-136C>T
n.870-4454G>A
c.2729C>T (p.Ser910Phe)
c.2372C>T (p.Ser791Phe)
2g.166272634G>CCA349073804SCN1A-AS1,SCN9Ac.3116C>G (p.Ser1039Cys)
c.116C>G (p.Ser39Cys)
c.3083C>G (p.Ser1028Cys)
c.1877-136C>G
n.870-4454G>C
c.2729C>G (p.Ser910Cys)
c.2372C>G (p.Ser791Cys)
2g.166272634G>TCA349073806SCN1A-AS1,SCN9Ac.3116C>A (p.Ser1039Tyr)
c.116C>A (p.Ser39Tyr)
c.3083C>A (p.Ser1028Tyr)
c.1877-136C>A
n.870-4454G>T
c.2729C>A (p.Ser910Tyr)
c.2372C>A (p.Ser791Tyr)
2g.166272635A>CCA349073811SCN1A-AS1,SCN9Ac.3115T>G (p.Ser1039Ala)
c.115T>G (p.Ser39Ala)
c.3082T>G (p.Ser1028Ala)
c.1877-137T>G
n.870-4453A>C
c.2728T>G (p.Ser910Ala)
c.2371T>G (p.Ser791Ala)
2g.166272635A>GCA349073810SCN1A-AS1,SCN9Ac.3115T>C (p.Ser1039Pro)
c.115T>C (p.Ser39Pro)
c.3082T>C (p.Ser1028Pro)
c.1877-137T>C
n.870-4453A>G
c.2728T>C (p.Ser910Pro)
c.2371T>C (p.Ser791Pro)
2g.166272635A>TCA349073809SCN1A-AS1,SCN9Ac.3115T>A (p.Ser1039Thr)
c.115T>A (p.Ser39Thr)
c.3082T>A (p.Ser1028Thr)
c.1877-137T>A
n.870-4453A>T
c.2728T>A (p.Ser910Thr)
c.2371T>A (p.Ser791Thr)
2g.166272636A>CCA349073812SCN1A-AS1,SCN9Ac.3114T>G (p.Ile1038Met)
c.114T>G (p.Ile38Met)
c.3081T>G (p.Ile1027Met)
c.1877-138T>G
n.870-4452A>C
c.2727T>G (p.Ile909Met)
c.2370T>G (p.Ile790Met)
2g.166272636A>GCA429978149SCN1A-AS1,SCN9Ac.3114T>C (p.Ile1038=)
c.114T>C (p.Ile38=)
c.3081T>C (p.Ile1027=)
c.1877-138T>C
n.870-4452A>G
c.2727T>C (p.Ile909=)
c.2370T>C (p.Ile790=)
2g.166272636A>TCA429978151SCN1A-AS1,SCN9Ac.3114T>A (p.Ile1038=)
c.114T>A (p.Ile38=)
c.3081T>A (p.Ile1027=)
c.1877-138T>A
n.870-4452A>T
c.2727T>A (p.Ile909=)
c.2370T>A (p.Ile790=)
 COSMIC COSMIC
2g.166272637A>CCA349073815SCN1A-AS1,SCN9Ac.3113T>G (p.Ile1038Ser)
c.113T>G (p.Ile38Ser)
c.3080T>G (p.Ile1027Ser)
c.1877-139T>G
n.870-4451A>C
c.2726T>G (p.Ile909Ser)
c.2369T>G (p.Ile790Ser)
2g.166272637A>GCA349073816SCN1A-AS1,SCN9Ac.3113T>C (p.Ile1038Thr)
c.113T>C (p.Ile38Thr)
c.3080T>C (p.Ile1027Thr)
c.1877-139T>C
n.870-4451A>G
c.2726T>C (p.Ile909Thr)
c.2369T>C (p.Ile790Thr)
 gnomAD v4
2g.166272637A>TCA349073819SCN1A-AS1,SCN9Ac.3113T>A (p.Ile1038Asn)
c.113T>A (p.Ile38Asn)
c.3080T>A (p.Ile1027Asn)
c.1877-139T>A
n.870-4451A>T
c.2726T>A (p.Ile909Asn)
c.2369T>A (p.Ile790Asn)
2g.166272638T>ACA349073823SCN1A-AS1,SCN9Ac.3112A>T (p.Ile1038Phe)
c.112A>T (p.Ile38Phe)
c.3079A>T (p.Ile1027Phe)
c.1877-140A>T
n.870-4450T>A
c.2725A>T (p.Ile909Phe)
c.2368A>T (p.Ile790Phe)
2g.166272638T>CCA1944135SCN1A-AS1,SCN9Ac.3112A>G (p.Ile1038Val)
c.112A>G (p.Ile38Val)
c.3079A>G (p.Ile1027Val)
c.1877-140A>G
n.870-4450T>C
c.2725A>G (p.Ile909Val)
c.2368A>G (p.Ile790Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272638T>GCA349073829SCN1A-AS1,SCN9Ac.3112A>C (p.Ile1038Leu)
c.112A>C (p.Ile38Leu)
c.3079A>C (p.Ile1027Leu)
c.1877-140A>C
n.870-4450T>G
c.2725A>C (p.Ile909Leu)
c.2368A>C (p.Ile790Leu)
2g.166272638T=CA1304962793SCN1A-AS1,SCN9Ac.3112A= (p.Ile1038=)
c.112A= (p.Ile38=)
c.3079A= (p.Ile1027=)
c.1877-140A=
n.870-4450T=
c.2725A= (p.Ile909=)
c.2368A= (p.Ile790=)
2g.166272639A=CA1304962794SCN1A-AS1,SCN9Ac.3111T= (p.Tyr1037=)
c.111T= (p.Tyr37=)
c.3078T= (p.Tyr1026=)
c.1877-141T=
n.870-4449A=
c.2724T= (p.Tyr908=)
c.2367T= (p.Tyr789=)
2g.166272639A>CCA349073832SCN1A-AS1,SCN9Ac.3111T>G (p.Tyr1037Ter)
c.111T>G (p.Tyr37Ter)
c.3078T>G (p.Tyr1026Ter)
c.1877-141T>G
n.870-4449A>C
c.2724T>G (p.Tyr908Ter)
c.2367T>G (p.Tyr789Ter)
2g.166272639A>GCA59791527SCN1A-AS1,SCN9Ac.3111T>C (p.Tyr1037=)
c.111T>C (p.Tyr37=)
c.3078T>C (p.Tyr1026=)
c.1877-141T>C
n.870-4449A>G
c.2724T>C (p.Tyr908=)
c.2367T>C (p.Tyr789=)
 ClinVar dbSNP gnomAD v4
2g.166272639A>TCA349073835SCN1A-AS1,SCN9Ac.3111T>A (p.Tyr1037Ter)
c.111T>A (p.Tyr37Ter)
c.3078T>A (p.Tyr1026Ter)
c.1877-141T>A
n.870-4449A>T
c.2724T>A (p.Tyr908Ter)
c.2367T>A (p.Tyr789Ter)
2g.166272640T>ACA349073836SCN1A-AS1,SCN9Ac.3110A>T (p.Tyr1037Phe)
c.110A>T (p.Tyr37Phe)
c.3077A>T (p.Tyr1026Phe)
c.1877-142A>T
n.870-4448T>A
c.2723A>T (p.Tyr908Phe)
c.2366A>T (p.Tyr789Phe)
 ClinVar
2g.166272640T>CCA59791528SCN1A-AS1,SCN9Ac.3110A>G (p.Tyr1037Cys)
c.110A>G (p.Tyr37Cys)
c.3077A>G (p.Tyr1026Cys)
c.1877-142A>G
n.870-4448T>C
c.2723A>G (p.Tyr908Cys)
c.2366A>G (p.Tyr789Cys)
 ClinVar dbSNP gnomAD v4
2g.166272640T>GCA349073837SCN1A-AS1,SCN9Ac.3110A>C (p.Tyr1037Ser)
c.110A>C (p.Tyr37Ser)
c.3077A>C (p.Tyr1026Ser)
c.1877-142A>C
n.870-4448T>G
c.2723A>C (p.Tyr908Ser)
c.2366A>C (p.Tyr789Ser)
2g.166272640T=CA1304962795SCN1A-AS1,SCN9Ac.3110A= (p.Tyr1037=)
c.110A= (p.Tyr37=)
c.3077A= (p.Tyr1026=)
c.1877-142A=
n.870-4448T=
c.2723A= (p.Tyr908=)
c.2366A= (p.Tyr789=)
2g.166272641A>CCA349073842SCN1A-AS1,SCN9Ac.3109T>G (p.Tyr1037Asp)
c.109T>G (p.Tyr37Asp)
c.3076T>G (p.Tyr1026Asp)
c.1877-143T>G
n.870-4447A>C
c.2722T>G (p.Tyr908Asp)
c.2365T>G (p.Tyr789Asp)
2g.166272641A>GCA349073841SCN1A-AS1,SCN9Ac.3109T>C (p.Tyr1037His)
c.109T>C (p.Tyr37His)
c.3076T>C (p.Tyr1026His)
c.1877-143T>C
n.870-4447A>G
c.2722T>C (p.Tyr908His)
c.2365T>C (p.Tyr789His)
2g.166272641A>TCA349073839SCN1A-AS1,SCN9Ac.3109T>A (p.Tyr1037Asn)
c.109T>A (p.Tyr37Asn)
c.3076T>A (p.Tyr1026Asn)
c.1877-143T>A
n.870-4447A>T
c.2722T>A (p.Tyr908Asn)
c.2365T>A (p.Tyr789Asn)
2g.166272642G>ACA429978155SCN1A-AS1,SCN9Ac.3108C>T (p.Asn1036=)
c.108C>T (p.Asn36=)
c.3075C>T (p.Asn1025=)
c.1877-144C>T
n.870-4446G>A
c.2721C>T (p.Asn907=)
c.2364C>T (p.Asn788=)
 gnomAD v4
2g.166272642G>CCA349073847SCN1A-AS1,SCN9Ac.3108C>G (p.Asn1036Lys)
c.108C>G (p.Asn36Lys)
c.3075C>G (p.Asn1025Lys)
c.1877-144C>G
n.870-4446G>C
c.2721C>G (p.Asn907Lys)
c.2364C>G (p.Asn788Lys)
2g.166272642G>TCA349073845SCN1A-AS1,SCN9Ac.3108C>A (p.Asn1036Lys)
c.108C>A (p.Asn36Lys)
c.3075C>A (p.Asn1025Lys)
c.1877-144C>A
n.870-4446G>T
c.2721C>A (p.Asn907Lys)
c.2364C>A (p.Asn788Lys)
2g.166272643T>ACA349073850SCN1A-AS1,SCN9Ac.3107A>T (p.Asn1036Ile)
c.107A>T (p.Asn36Ile)
c.3074A>T (p.Asn1025Ile)
c.1877-145A>T
n.870-4445T>A
c.2720A>T (p.Asn907Ile)
c.2363A>T (p.Asn788Ile)
2g.166272643T>CCA349073848SCN1A-AS1,SCN9Ac.3107A>G (p.Asn1036Ser)
c.107A>G (p.Asn36Ser)
c.3074A>G (p.Asn1025Ser)
c.1877-145A>G
n.870-4445T>C
c.2720A>G (p.Asn907Ser)
c.2363A>G (p.Asn788Ser)
2g.166272643T>GCA349073849SCN1A-AS1,SCN9Ac.3107A>C (p.Asn1036Thr)
c.107A>C (p.Asn36Thr)
c.3074A>C (p.Asn1025Thr)
c.1877-145A>C
n.870-4445T>G
c.2720A>C (p.Asn907Thr)
c.2363A>C (p.Asn788Thr)
2g.166272644T>ACA349073852SCN1A-AS1,SCN9Ac.3106A>T (p.Asn1036Tyr)
c.106A>T (p.Asn36Tyr)
c.3073A>T (p.Asn1025Tyr)
c.1877-146A>T
n.870-4444T>A
c.2719A>T (p.Asn907Tyr)
c.2362A>T (p.Asn788Tyr)
2g.166272644T>CCA349073860SCN1A-AS1,SCN9Ac.3106A>G (p.Asn1036Asp)
c.106A>G (p.Asn36Asp)
c.3073A>G (p.Asn1025Asp)
c.1877-146A>G
n.870-4444T>C
c.2719A>G (p.Asn907Asp)
c.2362A>G (p.Asn788Asp)
2g.166272644T>GCA349073864SCN1A-AS1,SCN9Ac.3106A>C (p.Asn1036His)
c.106A>C (p.Asn36His)
c.3073A>C (p.Asn1025His)
c.1877-146A>C
n.870-4444T>G
c.2719A>C (p.Asn907His)
c.2362A>C (p.Asn788His)
2g.166272645T>ACA349073868SCN1A-AS1,SCN9Ac.3105A>T (p.Glu1035Asp)
c.105A>T (p.Glu35Asp)
c.3072A>T (p.Glu1024Asp)
c.1877-147A>T
n.870-4443T>A
c.2718A>T (p.Glu906Asp)
c.2361A>T (p.Glu787Asp)
2g.166272645T>CCA429977874SCN1A-AS1,SCN9Ac.3105A>G (p.Glu1035=)
c.105A>G (p.Glu35=)
c.3072A>G (p.Glu1024=)
c.1877-147A>G
n.870-4443T>C
c.2718A>G (p.Glu906=)
c.2361A>G (p.Glu787=)
2g.166272645T>GCA349073877SCN1A-AS1,SCN9Ac.3105A>C (p.Glu1035Asp)
c.105A>C (p.Glu35Asp)
c.3072A>C (p.Glu1024Asp)
c.1877-147A>C
n.870-4443T>G
c.2718A>C (p.Glu906Asp)
c.2361A>C (p.Glu787Asp)
2g.166272645_166272646insCCA2661766688SCN1A-AS1,SCN9Ac.3104_3105insG (p.Asn1036LysfsTer5)
c.104_105insG (p.Asn36LysfsTer5)
c.3071_3072insG (p.Asn1025LysfsTer5)
c.1877-148_1877-147insG
n.870-4443_870-4442insC
c.2717_2718insG (p.Asn907LysfsTer5)
c.2360_2361insG (p.Asn788LysfsTer5)
 gnomAD v4
2g.166272646T>ACA349073880SCN1A-AS1,SCN9Ac.3104A>T (p.Glu1035Val)
c.104A>T (p.Glu35Val)
c.3071A>T (p.Glu1024Val)
c.1877-148A>T
n.870-4442T>A
c.2717A>T (p.Glu906Val)
c.2360A>T (p.Glu787Val)
 COSMIC COSMIC
2g.166272646T>CCA349073883SCN1A-AS1,SCN9Ac.3104A>G (p.Glu1035Gly)
c.104A>G (p.Glu35Gly)
c.3071A>G (p.Glu1024Gly)
c.1877-148A>G
n.870-4442T>C
c.2717A>G (p.Glu906Gly)
c.2360A>G (p.Glu787Gly)
 gnomAD v4
2g.166272646T>GCA349073887SCN1A-AS1,SCN9Ac.3104A>C (p.Glu1035Ala)
c.104A>C (p.Glu35Ala)
c.3071A>C (p.Glu1024Ala)
c.1877-148A>C
n.870-4442T>G
c.2717A>C (p.Glu906Ala)
c.2360A>C (p.Glu787Ala)
2g.166272647C>ACA1944136SCN1A-AS1,SCN9Ac.3103G>T (p.Glu1035Ter)
c.103G>T (p.Glu35Ter)
c.3070G>T (p.Glu1024Ter)
c.1877-149G>T
n.870-4441C>A
c.2716G>T (p.Glu906Ter)
c.2359G>T (p.Glu787Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272647C=CA1304962796SCN1A-AS1,SCN9Ac.3103G= (p.Glu1035=)
c.103G= (p.Glu35=)
c.3070G= (p.Glu1024=)
c.1877-149G=
n.870-4441C=
c.2716G= (p.Glu906=)
c.2359G= (p.Glu787=)
2g.166272647C>GCA349073891SCN1A-AS1,SCN9Ac.3103G>C (p.Glu1035Gln)
c.103G>C (p.Glu35Gln)
c.3070G>C (p.Glu1024Gln)
c.1877-149G>C
n.870-4441C>G
c.2716G>C (p.Glu906Gln)
c.2359G>C (p.Glu787Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.166272647C>TCA349073894SCN1A-AS1,SCN9Ac.3103G>A (p.Glu1035Lys)
c.103G>A (p.Glu35Lys)
c.3070G>A (p.Glu1024Lys)
c.1877-149G>A
n.870-4441C>T
c.2716G>A (p.Glu906Lys)
c.2359G>A (p.Glu787Lys)
 gnomAD v4 COSMIC COSMIC
2g.166272648C>ACA349073903SCN1A-AS1,SCN9Ac.3102G>T (p.Lys1034Asn)
c.102G>T (p.Lys34Asn)
c.3069G>T (p.Lys1023Asn)
c.1877-150G>T
n.870-4440C>A
c.2715G>T (p.Lys905Asn)
c.2358G>T (p.Lys786Asn)
2g.166272648C=CA1304962797SCN1A-AS1,SCN9Ac.3102G= (p.Lys1034=)
c.102G= (p.Lys34=)
c.3069G= (p.Lys1023=)
c.1877-150G=
n.870-4440C=
c.2715G= (p.Lys905=)
c.2358G= (p.Lys786=)
2g.166272648C>GCA349073906SCN1A-AS1,SCN9Ac.3102G>C (p.Lys1034Asn)
c.102G>C (p.Lys34Asn)
c.3069G>C (p.Lys1023Asn)
c.1877-150G>C
n.870-4440C>G
c.2715G>C (p.Lys905Asn)
c.2358G>C (p.Lys786Asn)
2g.166272648C>TCA1944137SCN1A-AS1,SCN9Ac.3102G>A (p.Lys1034=)
c.102G>A (p.Lys34=)
c.3069G>A (p.Lys1023=)
c.1877-150G>A
n.870-4440C>T
c.2715G>A (p.Lys905=)
c.2358G>A (p.Lys786=)
 ClinVar dbSNP ExAC gnomAD v2
2g.166272649T>ACA349073908SCN1A-AS1,SCN9Ac.3101A>T (p.Lys1034Met)
c.101A>T (p.Lys34Met)
c.3068A>T (p.Lys1023Met)
c.1877-151A>T
n.870-4439T>A
c.2714A>T (p.Lys905Met)
c.2357A>T (p.Lys786Met)
 dbSNP
2g.166272649T>CCA349073909SCN1A-AS1,SCN9Ac.3101A>G (p.Lys1034Arg)
c.101A>G (p.Lys34Arg)
c.3068A>G (p.Lys1023Arg)
c.1877-151A>G
n.870-4439T>C
c.2714A>G (p.Lys905Arg)
c.2357A>G (p.Lys786Arg)
2g.166272649T>GCA349073910SCN1A-AS1,SCN9Ac.3101A>C (p.Lys1034Thr)
c.101A>C (p.Lys34Thr)
c.3068A>C (p.Lys1023Thr)
c.1877-151A>C
n.870-4439T>G
c.2714A>C (p.Lys905Thr)
c.2357A>C (p.Lys786Thr)
2g.166272649T=CA1304962798SCN1A-AS1,SCN9Ac.3101A= (p.Lys1034=)
c.101A= (p.Lys34=)
c.3068A= (p.Lys1023=)
c.1877-151A=
n.870-4439T=
c.2714A= (p.Lys905=)
c.2357A= (p.Lys786=)
2g.166272650T>ACA349073911SCN1A-AS1,SCN9Ac.3100A>T (p.Lys1034Ter)
c.100A>T (p.Lys34Ter)
c.3067A>T (p.Lys1023Ter)
c.1877-152A>T
n.870-4438T>A
c.2713A>T (p.Lys905Ter)
c.2356A>T (p.Lys786Ter)
 dbSNP
2g.166272650T>CCA349073912SCN1A-AS1,SCN9Ac.3100A>G (p.Lys1034Glu)
c.100A>G (p.Lys34Glu)
c.3067A>G (p.Lys1023Glu)
c.1877-152A>G
n.870-4438T>C
c.2713A>G (p.Lys905Glu)
c.2356A>G (p.Lys786Glu)
2g.166272650T>GCA349073914SCN1A-AS1,SCN9Ac.3100A>C (p.Lys1034Gln)
c.100A>C (p.Lys34Gln)
c.3067A>C (p.Lys1023Gln)
c.1877-152A>C
n.870-4438T>G
c.2713A>C (p.Lys905Gln)
c.2356A>C (p.Lys786Gln)
2g.166272650T=CA1304962799SCN1A-AS1,SCN9Ac.3100A= (p.Lys1034=)
c.100A= (p.Lys34=)
c.3067A= (p.Lys1023=)
c.1877-152A=
n.870-4438T=
c.2713A= (p.Lys905=)
c.2356A= (p.Lys786=)
2g.166272651C>ACA349073916SCN1A-AS1,SCN9Ac.3099G>T (p.Lys1033Asn)
c.99G>T (p.Lys33Asn)
c.3066G>T (p.Lys1022Asn)
c.1877-153G>T
n.870-4437C>A
c.2712G>T (p.Lys904Asn)
c.2355G>T (p.Lys785Asn)
2g.166272651C>GCA349073918SCN1A-AS1,SCN9Ac.3099G>C (p.Lys1033Asn)
c.99G>C (p.Lys33Asn)
c.3066G>C (p.Lys1022Asn)
c.1877-153G>C
n.870-4437C>G
c.2712G>C (p.Lys904Asn)
c.2355G>C (p.Lys785Asn)
2g.166272651C>TCA429977880SCN1A-AS1,SCN9Ac.3099G>A (p.Lys1033=)
c.99G>A (p.Lys33=)
c.3066G>A (p.Lys1022=)
c.1877-153G>A
n.870-4437C>T
c.2712G>A (p.Lys904=)
c.2355G>A (p.Lys785=)
2g.166272652T>ACA349073919SCN1A-AS1,SCN9Ac.3098A>T (p.Lys1033Met)
c.98A>T (p.Lys33Met)
c.3065A>T (p.Lys1022Met)
c.1877-154A>T
n.870-4436T>A
c.2711A>T (p.Lys904Met)
c.2354A>T (p.Lys785Met)
2g.166272652T>CCA349073920SCN1A-AS1,SCN9Ac.3098A>G (p.Lys1033Arg)
c.98A>G (p.Lys33Arg)
c.3065A>G (p.Lys1022Arg)
c.1877-154A>G
n.870-4436T>C
c.2711A>G (p.Lys904Arg)
c.2354A>G (p.Lys785Arg)
 ClinVar
2g.166272652T>GCA349073922SCN1A-AS1,SCN9Ac.3098A>C (p.Lys1033Thr)
c.98A>C (p.Lys33Thr)
c.3065A>C (p.Lys1022Thr)
c.1877-154A>C
n.870-4436T>G
c.2711A>C (p.Lys904Thr)
c.2354A>C (p.Lys785Thr)
2g.166272653T>ACA349073926SCN1A-AS1,SCN9Ac.3097A>T (p.Lys1033Ter)
c.97A>T (p.Lys33Ter)
c.3064A>T (p.Lys1022Ter)
c.1877-155A>T
n.870-4435T>A
c.2710A>T (p.Lys904Ter)
c.2353A>T (p.Lys785Ter)
 dbSNP
2g.166272653T>CCA349073927SCN1A-AS1,SCN9Ac.3097A>G (p.Lys1033Glu)
c.97A>G (p.Lys33Glu)
c.3064A>G (p.Lys1022Glu)
c.1877-155A>G
n.870-4435T>C
c.2710A>G (p.Lys904Glu)
c.2353A>G (p.Lys785Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.166272653T>GCA349073924SCN1A-AS1,SCN9Ac.3097A>C (p.Lys1033Gln)
c.97A>C (p.Lys33Gln)
c.3064A>C (p.Lys1022Gln)
c.1877-155A>C
n.870-4435T>G
c.2710A>C (p.Lys904Gln)
c.2353A>C (p.Lys785Gln)
2g.166272653T=CA1304962800SCN1A-AS1,SCN9Ac.3097A= (p.Lys1033=)
c.97A= (p.Lys33=)
c.3064A= (p.Lys1022=)
c.1877-155A=
n.870-4435T=
c.2710A= (p.Lys904=)
c.2353A= (p.Lys785=)
2g.166272654delCA2573133701SCN1A-AS1,SCN9Ac.3096del (p.Lys1033ArgfsTer14)
c.96del (p.Lys33ArgfsTer14)
c.3063del (p.Lys1022ArgfsTer14)
c.1877-156del
n.870-4434del
c.2709del (p.Lys904ArgfsTer14)
c.2352del (p.Lys785ArgfsTer14)
 ClinVar dbSNP
2g.166272654A>CCA429977885SCN1A-AS1,SCN9Ac.3096T>G (p.Thr1032=)
c.96T>G (p.Thr32=)
c.3063T>G (p.Thr1021=)
c.1877-156T>G
n.870-4434A>C
c.2709T>G (p.Thr903=)
c.2352T>G (p.Thr784=)
 ClinVar
2g.166272654A>GCA429977886SCN1A-AS1,SCN9Ac.3096T>C (p.Thr1032=)
c.96T>C (p.Thr32=)
c.3063T>C (p.Thr1021=)
c.1877-156T>C
n.870-4434A>G
c.2709T>C (p.Thr903=)
c.2352T>C (p.Thr784=)
2g.166272654A>TCA429977887SCN1A-AS1,SCN9Ac.3096T>A (p.Thr1032=)
c.96T>A (p.Thr32=)
c.3063T>A (p.Thr1021=)
c.1877-156T>A
n.870-4434A>T
c.2709T>A (p.Thr903=)
c.2352T>A (p.Thr784=)
2g.166272655G>ACA349073928SCN1A-AS1,SCN9Ac.3095C>T (p.Thr1032Ile)
c.95C>T (p.Thr32Ile)
c.3062C>T (p.Thr1021Ile)
c.1877-157C>T
n.870-4433G>A
c.2708C>T (p.Thr903Ile)
c.2351C>T (p.Thr784Ile)
 gnomAD v4
2g.166272655G>CCA349073930SCN1A-AS1,SCN9Ac.3095C>G (p.Thr1032Ser)
c.95C>G (p.Thr32Ser)
c.3062C>G (p.Thr1021Ser)
c.1877-157C>G
n.870-4433G>C
c.2708C>G (p.Thr903Ser)
c.2351C>G (p.Thr784Ser)
 gnomAD v4
2g.166272655G>TCA349073931SCN1A-AS1,SCN9Ac.3095C>A (p.Thr1032Asn)
c.95C>A (p.Thr32Asn)
c.3062C>A (p.Thr1021Asn)
c.1877-157C>A
n.870-4433G>T
c.2708C>A (p.Thr903Asn)
c.2351C>A (p.Thr784Asn)
2g.166272656T>ACA349073933SCN1A-AS1,SCN9Ac.3094A>T (p.Thr1032Ser)
c.94A>T (p.Thr32Ser)
c.3061A>T (p.Thr1021Ser)
c.1877-158A>T
n.870-4432T>A
c.2707A>T (p.Thr903Ser)
c.2350A>T (p.Thr784Ser)
 gnomAD v4
2g.166272656T>CCA349073935SCN1A-AS1,SCN9Ac.3094A>G (p.Thr1032Ala)
c.94A>G (p.Thr32Ala)
c.3061A>G (p.Thr1021Ala)
c.1877-158A>G
n.870-4432T>C
c.2707A>G (p.Thr903Ala)
c.2350A>G (p.Thr784Ala)
2g.166272656T>GCA349073937SCN1A-AS1,SCN9Ac.3094A>C (p.Thr1032Pro)
c.94A>C (p.Thr32Pro)
c.3061A>C (p.Thr1021Pro)
c.1877-158A>C
n.870-4432T>G
c.2707A>C (p.Thr903Pro)
c.2350A>C (p.Thr784Pro)
2g.166272657A>CCA349073941SCN1A-AS1,SCN9Ac.3093T>G (p.Asn1031Lys)
c.93T>G (p.Asn31Lys)
c.3060T>G (p.Asn1020Lys)
c.1877-159T>G
n.870-4431A>C
c.2706T>G (p.Asn902Lys)
c.2349T>G (p.Asn783Lys)
2g.166272657A>GCA429977889SCN1A-AS1,SCN9Ac.3093T>C (p.Asn1031=)
c.93T>C (p.Asn31=)
c.3060T>C (p.Asn1020=)
c.1877-159T>C
n.870-4431A>G
c.2706T>C (p.Asn902=)
c.2349T>C (p.Asn783=)
2g.166272657A>TCA349073939SCN1A-AS1,SCN9Ac.3093T>A (p.Asn1031Lys)
c.93T>A (p.Asn31Lys)
c.3060T>A (p.Asn1020Lys)
c.1877-159T>A
n.870-4431A>T
c.2706T>A (p.Asn902Lys)
c.2349T>A (p.Asn783Lys)
2g.166272658T>ACA349073943SCN1A-AS1,SCN9Ac.3092A>T (p.Asn1031Ile)
c.92A>T (p.Asn31Ile)
c.3059A>T (p.Asn1020Ile)
c.1877-160A>T
n.870-4430T>A
c.2705A>T (p.Asn902Ile)
c.2348A>T (p.Asn783Ile)
2g.166272658T>CCA349073945SCN1A-AS1,SCN9Ac.3092A>G (p.Asn1031Ser)
c.92A>G (p.Asn31Ser)
c.3059A>G (p.Asn1020Ser)
c.1877-160A>G
n.870-4430T>C
c.2705A>G (p.Asn902Ser)
c.2348A>G (p.Asn783Ser)
2g.166272658T>GCA349073947SCN1A-AS1,SCN9Ac.3092A>C (p.Asn1031Thr)
c.92A>C (p.Asn31Thr)
c.3059A>C (p.Asn1020Thr)
c.1877-160A>C
n.870-4430T>G
c.2705A>C (p.Asn902Thr)
c.2348A>C (p.Asn783Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.166272658T=CA1304962801SCN1A-AS1,SCN9Ac.3092A= (p.Asn1031=)
c.92A= (p.Asn31=)
c.3059A= (p.Asn1020=)
c.1877-160A=
n.870-4430T=
c.2705A= (p.Asn902=)
c.2348A= (p.Asn783=)
2g.166272659T>ACA349073949SCN1A-AS1,SCN9Ac.3091A>T (p.Asn1031Tyr)
c.91A>T (p.Asn31Tyr)
c.3058A>T (p.Asn1020Tyr)
c.1877-161A>T
n.870-4429T>A
c.2704A>T (p.Asn902Tyr)
c.2347A>T (p.Asn783Tyr)
2g.166272659T>CCA349073951SCN1A-AS1,SCN9Ac.3091A>G (p.Asn1031Asp)
c.91A>G (p.Asn31Asp)
c.3058A>G (p.Asn1020Asp)
c.1877-161A>G
n.870-4429T>C
c.2704A>G (p.Asn902Asp)
c.2347A>G (p.Asn783Asp)
2g.166272659T>GCA349073953SCN1A-AS1,SCN9Ac.3091A>C (p.Asn1031His)
c.91A>C (p.Asn31His)
c.3058A>C (p.Asn1020His)
c.1877-161A>C
n.870-4429T>G
c.2704A>C (p.Asn902His)
c.2347A>C (p.Asn783His)
 COSMIC COSMIC
2g.166272660C>ACA429977894SCN1A-AS1,SCN9Ac.3090G>T (p.Leu1030=)
c.90G>T (p.Leu30=)
c.3057G>T (p.Leu1019=)
c.1877-162G>T
n.870-4428C>A
c.2703G>T (p.Leu901=)
c.2346G>T (p.Leu782=)
2g.166272660C>GCA429977896SCN1A-AS1,SCN9Ac.3090G>C (p.Leu1030=)
c.90G>C (p.Leu30=)
c.3057G>C (p.Leu1019=)
c.1877-162G>C
n.870-4428C>G
c.2703G>C (p.Leu901=)
c.2346G>C (p.Leu782=)
2g.166272660C>TCA429977897SCN1A-AS1,SCN9Ac.3090G>A (p.Leu1030=)
c.90G>A (p.Leu30=)
c.3057G>A (p.Leu1019=)
c.1877-162G>A
n.870-4428C>T
c.2703G>A (p.Leu901=)
c.2346G>A (p.Leu782=)
 COSMIC COSMIC
2g.166272661A=CA1304962802SCN1A-AS1,SCN9Ac.3089T= (p.Leu1030=)
c.89T= (p.Leu30=)
c.3056T= (p.Leu1019=)
c.1877-163T=
n.870-4427A=
c.2702T= (p.Leu901=)
c.2345T= (p.Leu782=)
2g.166272661A>CCA349073955SCN1A-AS1,SCN9Ac.3089T>G (p.Leu1030Arg)
c.89T>G (p.Leu30Arg)
c.3056T>G (p.Leu1019Arg)
c.1877-163T>G
n.870-4427A>C
c.2702T>G (p.Leu901Arg)
c.2345T>G (p.Leu782Arg)
2g.166272661A>GCA1944138SCN1A-AS1,SCN9Ac.3089T>C (p.Leu1030Pro)
c.89T>C (p.Leu30Pro)
c.3056T>C (p.Leu1019Pro)
c.1877-163T>C
n.870-4427A>G
c.2702T>C (p.Leu901Pro)
c.2345T>C (p.Leu782Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272661A>TCA349073957SCN1A-AS1,SCN9Ac.3089T>A (p.Leu1030Gln)
c.89T>A (p.Leu30Gln)
c.3056T>A (p.Leu1019Gln)
c.1877-163T>A
n.870-4427A>T
c.2702T>A (p.Leu901Gln)
c.2345T>A (p.Leu782Gln)
2g.166272662G>ACA59791558SCN1A-AS1,SCN9Ac.3088C>T (p.Leu1030=)
c.88C>T (p.Leu30=)
c.3055C>T (p.Leu1019=)
c.1877-164C>T
n.870-4426G>A
c.2701C>T (p.Leu901=)
c.2344C>T (p.Leu782=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272662G>CCA349073960SCN1A-AS1,SCN9Ac.3088C>G (p.Leu1030Val)
c.88C>G (p.Leu30Val)
c.3055C>G (p.Leu1019Val)
c.1877-164C>G
n.870-4426G>C
c.2701C>G (p.Leu901Val)
c.2344C>G (p.Leu782Val)
2g.166272662G=CA1304962803SCN1A-AS1,SCN9Ac.3088C= (p.Leu1030=)
c.88C= (p.Leu30=)
c.3055C= (p.Leu1019=)
c.1877-164C=
n.870-4426G=
c.2701C= (p.Leu901=)
c.2344C= (p.Leu782=)
2g.166272662G>TCA349073961SCN1A-AS1,SCN9Ac.3088C>A (p.Leu1030Met)
c.88C>A (p.Leu30Met)
c.3055C>A (p.Leu1019Met)
c.1877-164C>A
n.870-4426G>T
c.2701C>A (p.Leu901Met)
c.2344C>A (p.Leu782Met)
2g.166272663A>CCA349073963SCN1A-AS1,SCN9Ac.3087T>G (p.Asp1029Glu)
c.87T>G (p.Asp29Glu)
c.3054T>G (p.Asp1018Glu)
c.1877-165T>G
n.870-4425A>C
c.2700T>G (p.Asp900Glu)
c.2343T>G (p.Asp781Glu)
2g.166272663A>GCA429977899SCN1A-AS1,SCN9Ac.3087T>C (p.Asp1029=)
c.87T>C (p.Asp29=)
c.3054T>C (p.Asp1018=)
c.1877-165T>C
n.870-4425A>G
c.2700T>C (p.Asp900=)
c.2343T>C (p.Asp781=)
2g.166272663A>TCA349073965SCN1A-AS1,SCN9Ac.3087T>A (p.Asp1029Glu)
c.87T>A (p.Asp29Glu)
c.3054T>A (p.Asp1018Glu)
c.1877-165T>A
n.870-4425A>T
c.2700T>A (p.Asp900Glu)
c.2343T>A (p.Asp781Glu)
2g.166272664T>ACA349073966SCN1A-AS1,SCN9Ac.3086A>T (p.Asp1029Val)
c.86A>T (p.Asp29Val)
c.3053A>T (p.Asp1018Val)
c.1877-166A>T
n.870-4424T>A
c.2699A>T (p.Asp900Val)
c.2342A>T (p.Asp781Val)
2g.166272664T>CCA349073967SCN1A-AS1,SCN9Ac.3086A>G (p.Asp1029Gly)
c.86A>G (p.Asp29Gly)
c.3053A>G (p.Asp1018Gly)
c.1877-166A>G
n.870-4424T>C
c.2699A>G (p.Asp900Gly)
c.2342A>G (p.Asp781Gly)
2g.166272664T>GCA349073968SCN1A-AS1,SCN9Ac.3086A>C (p.Asp1029Ala)
c.86A>C (p.Asp29Ala)
c.3053A>C (p.Asp1018Ala)
c.1877-166A>C
n.870-4424T>G
c.2699A>C (p.Asp900Ala)
c.2342A>C (p.Asp781Ala)
2g.166272665C>ACA349073971SCN1A-AS1,SCN9Ac.3085G>T (p.Asp1029Tyr)
c.85G>T (p.Asp29Tyr)
c.3052G>T (p.Asp1018Tyr)
c.1877-167G>T
n.870-4423C>A
c.2698G>T (p.Asp900Tyr)
c.2341G>T (p.Asp781Tyr)
 ClinVar dbSNP
2g.166272665C>GCA349073973SCN1A-AS1,SCN9Ac.3085G>C (p.Asp1029His)
c.85G>C (p.Asp29His)
c.3052G>C (p.Asp1018His)
c.1877-167G>C
n.870-4423C>G
c.2698G>C (p.Asp900His)
c.2341G>C (p.Asp781His)
2g.166272665C>TCA349073974SCN1A-AS1,SCN9Ac.3085G>A (p.Asp1029Asn)
c.85G>A (p.Asp29Asn)
c.3052G>A (p.Asp1018Asn)
c.1877-167G>A
n.870-4423C>T
c.2698G>A (p.Asp900Asn)
c.2341G>A (p.Asp781Asn)
 gnomAD v4
2g.166272666T>ACA349073975SCN1A-AS1,SCN9Ac.3084A>T (p.Glu1028Asp)
c.84A>T (p.Glu28Asp)
c.3051A>T (p.Glu1017Asp)
c.1877-168A>T
n.870-4422T>A
c.2697A>T (p.Glu899Asp)
c.2340A>T (p.Glu780Asp)
2g.166272666T>CCA429977900SCN1A-AS1,SCN9Ac.3084A>G (p.Glu1028=)
c.84A>G (p.Glu28=)
c.3051A>G (p.Glu1017=)
c.1877-168A>G
n.870-4422T>C
c.2697A>G (p.Glu899=)
c.2340A>G (p.Glu780=)
 ClinVar gnomAD v4
2g.166272666T>GCA349073977SCN1A-AS1,SCN9Ac.3084A>C (p.Glu1028Asp)
c.84A>C (p.Glu28Asp)
c.3051A>C (p.Glu1017Asp)
c.1877-168A>C
n.870-4422T>G
c.2697A>C (p.Glu899Asp)
c.2340A>C (p.Glu780Asp)
 gnomAD v4
2g.166272667T>ACA349073980SCN1A-AS1,SCN9Ac.3083A>T (p.Glu1028Val)
c.83A>T (p.Glu28Val)
c.3050A>T (p.Glu1017Val)
c.1877-169A>T
n.870-4421T>A
c.2696A>T (p.Glu899Val)
c.2339A>T (p.Glu780Val)
2g.166272667T>CCA349073982SCN1A-AS1,SCN9Ac.3083A>G (p.Glu1028Gly)
c.83A>G (p.Glu28Gly)
c.3050A>G (p.Glu1017Gly)
c.1877-169A>G
n.870-4421T>C
c.2696A>G (p.Glu899Gly)
c.2339A>G (p.Glu780Gly)
2g.166272667T>GCA349073979SCN1A-AS1,SCN9Ac.3083A>C (p.Glu1028Ala)
c.83A>C (p.Glu28Ala)
c.3050A>C (p.Glu1017Ala)
c.1877-169A>C
n.870-4421T>G
c.2696A>C (p.Glu899Ala)
c.2339A>C (p.Glu780Ala)
2g.166272668C>ACA349073984SCN1A-AS1,SCN9Ac.3082G>T (p.Glu1028Ter)
c.82G>T (p.Glu28Ter)
c.3049G>T (p.Glu1017Ter)
c.1877-170G>T
n.870-4420C>A
c.2695G>T (p.Glu899Ter)
c.2338G>T (p.Glu780Ter)
 dbSNP
2g.166272668C=CA1304962804SCN1A-AS1,SCN9Ac.3082G= (p.Glu1028=)
c.82G= (p.Glu28=)
c.3049G= (p.Glu1017=)
c.1877-170G=
n.870-4420C=
c.2695G= (p.Glu899=)
c.2338G= (p.Glu780=)
2g.166272668C>GCA349073991SCN1A-AS1,SCN9Ac.3082G>C (p.Glu1028Gln)
c.82G>C (p.Glu28Gln)
c.3049G>C (p.Glu1017Gln)
c.1877-170G>C
n.870-4420C>G
c.2695G>C (p.Glu899Gln)
c.2338G>C (p.Glu780Gln)
2g.166272668C>TCA349073986SCN1A-AS1,SCN9Ac.3082G>A (p.Glu1028Lys)
c.82G>A (p.Glu28Lys)
c.3049G>A (p.Glu1017Lys)
c.1877-170G>A
n.870-4420C>T
c.2695G>A (p.Glu899Lys)
c.2338G>A (p.Glu780Lys)
 ClinVar
2g.166272669T>ACA429977905SCN1A-AS1,SCN9Ac.3081A>T (p.Ala1027=)
c.81A>T (p.Ala27=)
c.3048A>T (p.Ala1016=)
c.1877-171A>T
n.870-4419T>A
c.2694A>T (p.Ala898=)
c.2337A>T (p.Ala779=)
2g.166272669T>CCA429977907SCN1A-AS1,SCN9Ac.3081A>G (p.Ala1027=)
c.81A>G (p.Ala27=)
c.3048A>G (p.Ala1016=)
c.1877-171A>G
n.870-4419T>C
c.2694A>G (p.Ala898=)
c.2337A>G (p.Ala779=)
 COSMIC
2g.166272669T>GCA1944139SCN1A-AS1,SCN9Ac.3081A>C (p.Ala1027=)
c.81A>C (p.Ala27=)
c.3048A>C (p.Ala1016=)
c.1877-171A>C
n.870-4419T>G
c.2694A>C (p.Ala898=)
c.2337A>C (p.Ala779=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272669T=CA1304962805SCN1A-AS1,SCN9Ac.3081A= (p.Ala1027=)
c.81A= (p.Ala27=)
c.3048A= (p.Ala1016=)
c.1877-171A=
n.870-4419T=
c.2694A= (p.Ala898=)
c.2337A= (p.Ala779=)
2g.166272670G>ACA349074002SCN1A-AS1,SCN9Ac.3080C>T (p.Ala1027Val)
c.80C>T (p.Ala27Val)
c.3047C>T (p.Ala1016Val)
c.1877-172C>T
n.870-4418G>A
c.2693C>T (p.Ala898Val)
c.2336C>T (p.Ala779Val)
 ClinVar dbSNP gnomAD v4
2g.166272670G>CCA349073996SCN1A-AS1,SCN9Ac.3080C>G (p.Ala1027Gly)
c.80C>G (p.Ala27Gly)
c.3047C>G (p.Ala1016Gly)
c.1877-172C>G
n.870-4418G>C
c.2693C>G (p.Ala898Gly)
c.2336C>G (p.Ala779Gly)
 ClinVar dbSNP gnomAD v4
2g.166272670G=CA1304962806SCN1A-AS1,SCN9Ac.3080C= (p.Ala1027=)
c.80C= (p.Ala27=)
c.3047C= (p.Ala1016=)
c.1877-172C=
n.870-4418G=
c.2693C= (p.Ala898=)
c.2336C= (p.Ala779=)
2g.166272670G>TCA349073999SCN1A-AS1,SCN9Ac.3080C>A (p.Ala1027Glu)
c.80C>A (p.Ala27Glu)
c.3047C>A (p.Ala1016Glu)
c.1877-172C>A
n.870-4418G>T
c.2693C>A (p.Ala898Glu)
c.2336C>A (p.Ala779Glu)
 ClinVar dbSNP
2g.166272671C>ACA349074004SCN1A-AS1,SCN9Ac.3079G>T (p.Ala1027Ser)
c.79G>T (p.Ala27Ser)
c.3046G>T (p.Ala1016Ser)
c.1877-173G>T
n.870-4417C>A
c.2692G>T (p.Ala898Ser)
c.2335G>T (p.Ala779Ser)
2g.166272671C>GCA349074009SCN1A-AS1,SCN9Ac.3079G>C (p.Ala1027Pro)
c.79G>C (p.Ala27Pro)
c.3046G>C (p.Ala1016Pro)
c.1877-173G>C
n.870-4417C>G
c.2692G>C (p.Ala898Pro)
c.2335G>C (p.Ala779Pro)
2g.166272671C>TCA349074012SCN1A-AS1,SCN9Ac.3079G>A (p.Ala1027Thr)
c.79G>A (p.Ala27Thr)
c.3046G>A (p.Ala1016Thr)
c.1877-173G>A
n.870-4417C>T
c.2692G>A (p.Ala898Thr)
c.2335G>A (p.Ala779Thr)
2g.166272672T>ACA349074014SCN1A-AS1,SCN9Ac.3078A>T (p.Gln1026His)
c.78A>T (p.Gln26His)
c.3045A>T (p.Gln1015His)
c.1877-174A>T
n.870-4416T>A
c.2691A>T (p.Gln897His)
c.2334A>T (p.Gln778His)
2g.166272672T>CCA429977911SCN1A-AS1,SCN9Ac.3078A>G (p.Gln1026=)
c.78A>G (p.Gln26=)
c.3045A>G (p.Gln1015=)
c.1877-174A>G
n.870-4416T>C
c.2691A>G (p.Gln897=)
c.2334A>G (p.Gln778=)
2g.166272672T>GCA349074015SCN1A-AS1,SCN9Ac.3078A>C (p.Gln1026His)
c.78A>C (p.Gln26His)
c.3045A>C (p.Gln1015His)
c.1877-174A>C
n.870-4416T>G
c.2691A>C (p.Gln897His)
c.2334A>C (p.Gln778His)
2g.166272673T>ACA349074017SCN1A-AS1,SCN9Ac.3077A>T (p.Gln1026Leu)
c.77A>T (p.Gln26Leu)
c.3044A>T (p.Gln1015Leu)
c.1877-175A>T
n.870-4415T>A
c.2690A>T (p.Gln897Leu)
c.2333A>T (p.Gln778Leu)
2g.166272673T>CCA349074020SCN1A-AS1,SCN9Ac.3077A>G (p.Gln1026Arg)
c.77A>G (p.Gln26Arg)
c.3044A>G (p.Gln1015Arg)
c.1877-175A>G
n.870-4415T>C
c.2690A>G (p.Gln897Arg)
c.2333A>G (p.Gln778Arg)
2g.166272673T>GCA349074021SCN1A-AS1,SCN9Ac.3077A>C (p.Gln1026Pro)
c.77A>C (p.Gln26Pro)
c.3044A>C (p.Gln1015Pro)
c.1877-175A>C
n.870-4415T>G
c.2690A>C (p.Gln897Pro)
c.2333A>C (p.Gln778Pro)
 ClinVar gnomAD v4
2g.166272674G>ACA349074025SCN1A-AS1,SCN9Ac.3076C>T (p.Gln1026Ter)
c.76C>T (p.Gln26Ter)
c.3043C>T (p.Gln1015Ter)
c.1877-176C>T
n.870-4414G>A
c.2689C>T (p.Gln897Ter)
c.2332C>T (p.Gln778Ter)
 dbSNP
2g.166272674G>CCA349074028SCN1A-AS1,SCN9Ac.3076C>G (p.Gln1026Glu)
c.76C>G (p.Gln26Glu)
c.3043C>G (p.Gln1015Glu)
c.1877-176C>G
n.870-4414G>C
c.2689C>G (p.Gln897Glu)
c.2332C>G (p.Gln778Glu)
 gnomAD v4
2g.166272674G=CA1304962807SCN1A-AS1,SCN9Ac.3076C= (p.Gln1026=)
c.76C= (p.Gln26=)
c.3043C= (p.Gln1015=)
c.1877-176C=
n.870-4414G=
c.2689C= (p.Gln897=)
c.2332C= (p.Gln778=)
2g.166272674G>TCA349074032SCN1A-AS1,SCN9Ac.3076C>A (p.Gln1026Lys)
c.76C>A (p.Gln26Lys)
c.3043C>A (p.Gln1015Lys)
c.1877-176C>A
n.870-4414G>T
c.2689C>A (p.Gln897Lys)
c.2332C>A (p.Gln778Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272675T>ACA1944140SCN1A-AS1,SCN9Ac.3075A>T (p.Arg1025Ser)
c.75A>T (p.Arg25Ser)
c.3042A>T (p.Arg1014Ser)
c.1877-177A>T
n.870-4413T>A
c.2688A>T (p.Arg896Ser)
c.2331A>T (p.Arg777Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272675T>CCA429977921SCN1A-AS1,SCN9Ac.3075A>G (p.Arg1025=)
c.75A>G (p.Arg25=)
c.3042A>G (p.Arg1014=)
c.1877-177A>G
n.870-4413T>C
c.2688A>G (p.Arg896=)
c.2331A>G (p.Arg777=)
2g.166272675T>GCA349074038SCN1A-AS1,SCN9Ac.3075A>C (p.Arg1025Ser)
c.75A>C (p.Arg25Ser)
c.3042A>C (p.Arg1014Ser)
c.1877-177A>C
n.870-4413T>G
c.2688A>C (p.Arg896Ser)
c.2331A>C (p.Arg777Ser)
2g.166272675T=CA1304962808SCN1A-AS1,SCN9Ac.3075A= (p.Arg1025=)
c.75A= (p.Arg25=)
c.3042A= (p.Arg1014=)
c.1877-177A=
n.870-4413T=
c.2688A= (p.Arg896=)
c.2331A= (p.Arg777=)
2g.166272676C>ACA1944141SCN1A-AS1,SCN9Ac.3074G>T (p.Arg1025Ile)
c.74G>T (p.Arg25Ile)
c.3041G>T (p.Arg1014Ile)
c.1877-178G>T
n.870-4412C>A
c.2687G>T (p.Arg896Ile)
c.2330G>T (p.Arg777Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272676C=CA1304962809SCN1A-AS1,SCN9Ac.3074G= (p.Arg1025=)
c.74G= (p.Arg25=)
c.3041G= (p.Arg1014=)
c.1877-178G=
n.870-4412C=
c.2687G= (p.Arg896=)
c.2330G= (p.Arg777=)
2g.166272676C>GCA349074043SCN1A-AS1,SCN9Ac.3074G>C (p.Arg1025Thr)
c.74G>C (p.Arg25Thr)
c.3041G>C (p.Arg1014Thr)
c.1877-178G>C
n.870-4412C>G
c.2687G>C (p.Arg896Thr)
c.2330G>C (p.Arg777Thr)
2g.166272676C>TCA349074046SCN1A-AS1,SCN9Ac.3074G>A (p.Arg1025Lys)
c.74G>A (p.Arg25Lys)
c.3041G>A (p.Arg1014Lys)
c.1877-178G>A
n.870-4412C>T
c.2687G>A (p.Arg896Lys)
c.2330G>A (p.Arg777Lys)
2g.166272677T>ACA349074049SCN1A-AS1,SCN9Ac.3073A>T (p.Arg1025Ter)
c.73A>T (p.Arg25Ter)
c.3040A>T (p.Arg1014Ter)
c.1877-179A>T
n.870-4411T>A
c.2686A>T (p.Arg896Ter)
c.2329A>T (p.Arg777Ter)
 dbSNP
2g.166272677T>CCA349074052SCN1A-AS1,SCN9Ac.3073A>G (p.Arg1025Gly)
c.73A>G (p.Arg25Gly)
c.3040A>G (p.Arg1014Gly)
c.1877-179A>G
n.870-4411T>C
c.2686A>G (p.Arg896Gly)
c.2329A>G (p.Arg777Gly)
2g.166272677T>GCA429977922SCN1A-AS1,SCN9Ac.3073A>C (p.Arg1025=)
c.73A>C (p.Arg25=)
c.3040A>C (p.Arg1014=)
c.1877-179A>C
n.870-4411T>G
c.2686A>C (p.Arg896=)
c.2329A>C (p.Arg777=)
2g.166272677T=CA1304962810SCN1A-AS1,SCN9Ac.3073A= (p.Arg1025=)
c.73A= (p.Arg25=)
c.3040A= (p.Arg1014=)
c.1877-179A=
n.870-4411T=
c.2686A= (p.Arg896=)
c.2329A= (p.Arg777=)
2g.166272678T>ACA429977925SCN1A-AS1,SCN9Ac.3072A>T (p.Ile1024=)
c.72A>T (p.Ile24=)
c.3039A>T (p.Ile1013=)
c.1877-180A>T
n.870-4410T>A
c.2685A>T (p.Ile895=)
c.2328A>T (p.Ile776=)
2g.166272678T>CCA1944142SCN1A-AS1,SCN9Ac.3072A>G (p.Ile1024Met)
c.72A>G (p.Ile24Met)
c.3039A>G (p.Ile1013Met)
c.1877-180A>G
n.870-4410T>C
c.2685A>G (p.Ile895Met)
c.2328A>G (p.Ile776Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272678T>GCA429977926SCN1A-AS1,SCN9Ac.3072A>C (p.Ile1024=)
c.72A>C (p.Ile24=)
c.3039A>C (p.Ile1013=)
c.1877-180A>C
n.870-4410T>G
c.2685A>C (p.Ile895=)
c.2328A>C (p.Ile776=)
2g.166272678T=CA1304962811SCN1A-AS1,SCN9Ac.3072A= (p.Ile1024=)
c.72A= (p.Ile24=)
c.3039A= (p.Ile1013=)
c.1877-180A=
n.870-4410T=
c.2685A= (p.Ile895=)
c.2328A= (p.Ile776=)
2g.166272679A>CCA349074057SCN1A-AS1,SCN9Ac.3071T>G (p.Ile1024Arg)
c.71T>G (p.Ile24Arg)
c.3038T>G (p.Ile1013Arg)
c.1877-181T>G
n.870-4409A>C
c.2684T>G (p.Ile895Arg)
c.2327T>G (p.Ile776Arg)
2g.166272679A>GCA349074059SCN1A-AS1,SCN9Ac.3071T>C (p.Ile1024Thr)
c.71T>C (p.Ile24Thr)
c.3038T>C (p.Ile1013Thr)
c.1877-181T>C
n.870-4409A>G
c.2684T>C (p.Ile895Thr)
c.2327T>C (p.Ile776Thr)
2g.166272679A>TCA349074061SCN1A-AS1,SCN9Ac.3071T>A (p.Ile1024Lys)
c.71T>A (p.Ile24Lys)
c.3038T>A (p.Ile1013Lys)
c.1877-181T>A
n.870-4409A>T
c.2684T>A (p.Ile895Lys)
c.2327T>A (p.Ile776Lys)
2g.166272680T>ACA349074066SCN1A-AS1,SCN9Ac.3070A>T (p.Ile1024Leu)
c.70A>T (p.Ile24Leu)
c.3037A>T (p.Ile1013Leu)
c.1877-182A>T
n.870-4408T>A
c.2683A>T (p.Ile895Leu)
c.2326A>T (p.Ile776Leu)
2g.166272680T>CCA349074068SCN1A-AS1,SCN9Ac.3070A>G (p.Ile1024Val)
c.70A>G (p.Ile24Val)
c.3037A>G (p.Ile1013Val)
c.1877-182A>G
n.870-4408T>C
c.2683A>G (p.Ile895Val)
c.2326A>G (p.Ile776Val)
2g.166272680T>GCA349074072SCN1A-AS1,SCN9Ac.3070A>C (p.Ile1024Leu)
c.70A>C (p.Ile24Leu)
c.3037A>C (p.Ile1013Leu)
c.1877-182A>C
n.870-4408T>G
c.2683A>C (p.Ile895Leu)
c.2326A>C (p.Ile776Leu)
 dbSNP
2g.166272680T=CA1304962812SCN1A-AS1,SCN9Ac.3070A= (p.Ile1024=)
c.70A= (p.Ile24=)
c.3037A= (p.Ile1013=)
c.1877-182A=
n.870-4408T=
c.2683A= (p.Ile895=)
c.2326A= (p.Ile776=)
2g.166272681C>ACA349074076SCN1A-AS1,SCN9Ac.3069G>T (p.Glu1023Asp)
c.69G>T (p.Glu23Asp)
c.3036G>T (p.Glu1012Asp)
c.1877-183G>T
n.870-4407C>A
c.2682G>T (p.Glu894Asp)
c.2325G>T (p.Glu775Asp)
2g.166272681C=CA1304962813SCN1A-AS1,SCN9Ac.3069G= (p.Glu1023=)
c.69G= (p.Glu23=)
c.3036G= (p.Glu1012=)
c.1877-183G=
n.870-4407C=
c.2682G= (p.Glu894=)
c.2325G= (p.Glu775=)
2g.166272681C>GCA349074079SCN1A-AS1,SCN9Ac.3069G>C (p.Glu1023Asp)
c.69G>C (p.Glu23Asp)
c.3036G>C (p.Glu1012Asp)
c.1877-183G>C
n.870-4407C>G
c.2682G>C (p.Glu894Asp)
c.2325G>C (p.Glu775Asp)
2g.166272681C>TCA429977930SCN1A-AS1,SCN9Ac.3069G>A (p.Glu1023=)
c.69G>A (p.Glu23=)
c.3036G>A (p.Glu1012=)
c.1877-183G>A
n.870-4407C>T
c.2682G>A (p.Glu894=)
c.2325G>A (p.Glu775=)
 dbSNP
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)

Number of alleles fetched