Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166228657A>TCA2661765407SCN1A-AS1,SCN9Ac.4206+34T>A (n.4206+34T>A)
c.4050+34T>A (n.4050+34T>A)
c.4173+34T>A (n.4173+34T>A)
n.612-19538A>T
c.3819+34T>A (n.3819+34T>A)
c.3462+34T>A (n.3462+34T>A)
 gnomAD v4
2g.166228660delCA2661765406SCN1A-AS1,SCN9Ac.4206+34del (n.4206+34del)
c.4050+34del (n.4050+34del)
c.4173+34del (n.4173+34del)
n.612-19535del
c.3819+34del (n.3819+34del)
c.3462+34del (n.3462+34del)
 gnomAD v4
2g.166228658A=CA1304943576SCN1A-AS1,SCN9Ac.4206+33T= (n.4206+33T=)
c.4050+33T= (n.4050+33T=)
c.4173+33T= (n.4173+33T=)
n.612-19537A=
c.3819+33T= (n.3819+33T=)
c.3462+33T= (n.3462+33T=)
2g.166228658A>CCA1943928SCN1A-AS1,SCN9Ac.4206+33T>G (n.4206+33T>G)
c.4050+33T>G (n.4050+33T>G)
c.4173+33T>G (n.4173+33T>G)
n.612-19537A>C
c.3819+33T>G (n.3819+33T>G)
c.3462+33T>G (n.3462+33T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228658_166228659insTTATACA2547272929SCN1A-AS1,SCN9Ac.4206+33_4206+34insATAAT (n.4206+33_4206+34insATAAT)
c.4050+33_4050+34insATAAT (n.4050+33_4050+34insATAAT)
c.4173+33_4173+34insATAAT (n.4173+33_4173+34insATAAT)
n.612-19537_612-19536insTTATA
c.3819+33_3819+34insATAAT (n.3819+33_3819+34insATAAT)
c.3462+33_3462+34insATAAT (n.3462+33_3462+34insATAAT)
2g.166228659A=CA1304943577SCN1A-AS1,SCN9Ac.4206+32T= (n.4206+32T=)
c.4050+32T= (n.4050+32T=)
c.4173+32T= (n.4173+32T=)
n.612-19536A=
c.3819+32T= (n.3819+32T=)
c.3462+32T= (n.3462+32T=)
2g.166228659A>GCA2661765408SCN1A-AS1,SCN9Ac.4206+32T>C (n.4206+32T>C)
c.4050+32T>C (n.4050+32T>C)
c.4173+32T>C (n.4173+32T>C)
n.612-19536A>G
c.3819+32T>C (n.3819+32T>C)
c.3462+32T>C (n.3462+32T>C)
 gnomAD v4
2g.166228659A>TCA760184402SCN1A-AS1,SCN9Ac.4206+32T>A (n.4206+32T>A)
c.4050+32T>A (n.4050+32T>A)
c.4173+32T>A (n.4173+32T>A)
n.612-19536A>T
c.3819+32T>A (n.3819+32T>A)
c.3462+32T>A (n.3462+32T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.166228660A=CA1304943578SCN1A-AS1,SCN9Ac.4206+31T= (n.4206+31T=)
c.4050+31T= (n.4050+31T=)
c.4173+31T= (n.4173+31T=)
n.612-19535A=
c.3819+31T= (n.3819+31T=)
c.3462+31T= (n.3462+31T=)
2g.166228660A>TCA59810178SCN1A-AS1,SCN9Ac.4206+31T>A (n.4206+31T>A)
c.4050+31T>A (n.4050+31T>A)
c.4173+31T>A (n.4173+31T>A)
n.612-19535A>T
c.3819+31T>A (n.3819+31T>A)
c.3462+31T>A (n.3462+31T>A)
 dbSNP
2g.166228661T>ACA1943929SCN1A-AS1,SCN9Ac.4206+30A>T (n.4206+30A>T)
c.4050+30A>T (n.4050+30A>T)
c.4173+30A>T (n.4173+30A>T)
n.612-19534T>A
c.3819+30A>T (n.3819+30A>T)
c.3462+30A>T (n.3462+30A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228661T>CCA537511607SCN1A-AS1,SCN9Ac.4206+30A>G (n.4206+30A>G)
c.4050+30A>G (n.4050+30A>G)
c.4173+30A>G (n.4173+30A>G)
n.612-19534T>C
c.3819+30A>G (n.3819+30A>G)
c.3462+30A>G (n.3462+30A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228661T=CA1304943579SCN1A-AS1,SCN9Ac.4206+30A= (n.4206+30A=)
c.4050+30A= (n.4050+30A=)
c.4173+30A= (n.4173+30A=)
n.612-19534T=
c.3819+30A= (n.3819+30A=)
c.3462+30A= (n.3462+30A=)
2g.166228664_166228690dupCA2661765409SCN1A-AS1,SCN9Ac.4206+4_4206+30dup (n.4206+4_4206+30dup)
c.4050+4_4050+30dup (n.4050+4_4050+30dup)
c.4173+4_4173+30dup (n.4173+4_4173+30dup)
n.612-19531_612-19505dup
c.3819+4_3819+30dup (n.3819+4_3819+30dup)
c.3462+4_3462+30dup (n.3462+4_3462+30dup)
 gnomAD v4
2g.166228663C>ACA2661765410SCN1A-AS1,SCN9Ac.4206+28G>T (n.4206+28G>T)
c.4050+28G>T (n.4050+28G>T)
c.4173+28G>T (n.4173+28G>T)
n.612-19532C>A
c.3819+28G>T (n.3819+28G>T)
c.3462+28G>T (n.3462+28G>T)
 gnomAD v4
2g.166228663C=CA1304943580SCN1A-AS1,SCN9Ac.4206+28G= (n.4206+28G=)
c.4050+28G= (n.4050+28G=)
c.4173+28G= (n.4173+28G=)
n.612-19532C=
c.3819+28G= (n.3819+28G=)
c.3462+28G= (n.3462+28G=)
2g.166228663C>TCA1943930SCN1A-AS1,SCN9Ac.4206+28G>A (n.4206+28G>A)
c.4050+28G>A (n.4050+28G>A)
c.4173+28G>A (n.4173+28G>A)
n.612-19532C>T
c.3819+28G>A (n.3819+28G>A)
c.3462+28G>A (n.3462+28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228664C>ACA2661765411SCN1A-AS1,SCN9Ac.4206+27G>T (n.4206+27G>T)
c.4050+27G>T (n.4050+27G>T)
c.4173+27G>T (n.4173+27G>T)
n.612-19531C>A
c.3819+27G>T (n.3819+27G>T)
c.3462+27G>T (n.3462+27G>T)
 gnomAD v4
2g.166228664C>TCA2661765412SCN1A-AS1,SCN9Ac.4206+27G>A (n.4206+27G>A)
c.4050+27G>A (n.4050+27G>A)
c.4173+27G>A (n.4173+27G>A)
n.612-19531C>T
c.3819+27G>A (n.3819+27G>A)
c.3462+27G>A (n.3462+27G>A)
 gnomAD v4
2g.166228665A>TCA2661765413SCN1A-AS1,SCN9Ac.4206+26T>A (n.4206+26T>A)
c.4050+26T>A (n.4050+26T>A)
c.4173+26T>A (n.4173+26T>A)
n.612-19530A>T
c.3819+26T>A (n.3819+26T>A)
c.3462+26T>A (n.3462+26T>A)
 gnomAD v4
2g.166228666A=CA1304943581SCN1A-AS1,SCN9Ac.4206+25T= (n.4206+25T=)
c.4050+25T= (n.4050+25T=)
c.4173+25T= (n.4173+25T=)
n.612-19529A=
c.3819+25T= (n.3819+25T=)
c.3462+25T= (n.3462+25T=)
2g.166228666A>GCA1943931SCN1A-AS1,SCN9Ac.4206+25T>C (n.4206+25T>C)
c.4050+25T>C (n.4050+25T>C)
c.4173+25T>C (n.4173+25T>C)
n.612-19529A>G
c.3819+25T>C (n.3819+25T>C)
c.3462+25T>C (n.3462+25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228667G>ACA537511610SCN1A-AS1,SCN9Ac.4206+24C>T (n.4206+24C>T)
c.4050+24C>T (n.4050+24C>T)
c.4173+24C>T (n.4173+24C>T)
n.612-19528G>A
c.3819+24C>T (n.3819+24C>T)
c.3462+24C>T (n.3462+24C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228667G>CCA2577144829SCN1A-AS1,SCN9Ac.4206+24C>G (n.4206+24C>G)
c.4050+24C>G (n.4050+24C>G)
c.4173+24C>G (n.4173+24C>G)
n.612-19528G>C
c.3819+24C>G (n.3819+24C>G)
c.3462+24C>G (n.3462+24C>G)
2g.166228667G=CA1304943582SCN1A-AS1,SCN9Ac.4206+24C= (n.4206+24C=)
c.4050+24C= (n.4050+24C=)
c.4173+24C= (n.4173+24C=)
n.612-19528G=
c.3819+24C= (n.3819+24C=)
c.3462+24C= (n.3462+24C=)
2g.166228667G>TCA2661765414SCN1A-AS1,SCN9Ac.4206+24C>A (n.4206+24C>A)
c.4050+24C>A (n.4050+24C>A)
c.4173+24C>A (n.4173+24C>A)
n.612-19528G>T
c.3819+24C>A (n.3819+24C>A)
c.3462+24C>A (n.3462+24C>A)
 gnomAD v4
2g.166228668C>ACA2661765415SCN1A-AS1,SCN9Ac.4206+23G>T (n.4206+23G>T)
c.4050+23G>T (n.4050+23G>T)
c.4173+23G>T (n.4173+23G>T)
n.612-19527C>A
c.3819+23G>T (n.3819+23G>T)
c.3462+23G>T (n.3462+23G>T)
 gnomAD v4
2g.166228669A>GCA2661765416SCN1A-AS1,SCN9Ac.4206+22T>C (n.4206+22T>C)
c.4050+22T>C (n.4050+22T>C)
c.4173+22T>C (n.4173+22T>C)
n.612-19526A>G
c.3819+22T>C (n.3819+22T>C)
c.3462+22T>C (n.3462+22T>C)
 gnomAD v4
2g.166228670C>TCA2577144830SCN1A-AS1,SCN9Ac.4206+21G>A (n.4206+21G>A)
c.4050+21G>A (n.4050+21G>A)
c.4173+21G>A (n.4173+21G>A)
n.612-19525C>T
c.3819+21G>A (n.3819+21G>A)
c.3462+21G>A (n.3462+21G>A)
2g.166228671T>CCA2661765417SCN1A-AS1,SCN9Ac.4206+20A>G (n.4206+20A>G)
c.4050+20A>G (n.4050+20A>G)
c.4173+20A>G (n.4173+20A>G)
n.612-19524T>C
c.3819+20A>G (n.3819+20A>G)
c.3462+20A>G (n.3462+20A>G)
 gnomAD v4
2g.166228672C>ACA2661765418SCN1A-AS1,SCN9Ac.4206+19G>T (n.4206+19G>T)
c.4050+19G>T (n.4050+19G>T)
c.4173+19G>T (n.4173+19G>T)
n.612-19523C>A
c.3819+19G>T (n.3819+19G>T)
c.3462+19G>T (n.3462+19G>T)
 gnomAD v4
2g.166228673A=CA1304943583SCN1A-AS1,SCN9Ac.4206+18T= (n.4206+18T=)
c.4050+18T= (n.4050+18T=)
c.4173+18T= (n.4173+18T=)
n.612-19522A=
c.3819+18T= (n.3819+18T=)
c.3462+18T= (n.3462+18T=)
2g.166228673A>GCA537511611SCN1A-AS1,SCN9Ac.4206+18T>C (n.4206+18T>C)
c.4050+18T>C (n.4050+18T>C)
c.4173+18T>C (n.4173+18T>C)
n.612-19522A>G
c.3819+18T>C (n.3819+18T>C)
c.3462+18T>C (n.3462+18T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228674T>ACA1304943585SCN1A-AS1,SCN9Ac.4206+17A>T (n.4206+17A>T)
c.4050+17A>T (n.4050+17A>T)
c.4173+17A>T (n.4173+17A>T)
n.612-19521T>A
c.3819+17A>T (n.3819+17A>T)
c.3462+17A>T (n.3462+17A>T)
 dbSNP
2g.166228674T>CCA59810189SCN1A-AS1,SCN9Ac.4206+17A>G (n.4206+17A>G)
c.4050+17A>G (n.4050+17A>G)
c.4173+17A>G (n.4173+17A>G)
n.612-19521T>C
c.3819+17A>G (n.3819+17A>G)
c.3462+17A>G (n.3462+17A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.166228674T=CA1304943584SCN1A-AS1,SCN9Ac.4206+17A= (n.4206+17A=)
c.4050+17A= (n.4050+17A=)
c.4173+17A= (n.4173+17A=)
n.612-19521T=
c.3819+17A= (n.3819+17A=)
c.3462+17A= (n.3462+17A=)
2g.166228675G>ACA1304943587SCN1A-AS1,SCN9Ac.4206+16C>T (n.4206+16C>T)
c.4050+16C>T (n.4050+16C>T)
c.4173+16C>T (n.4173+16C>T)
n.612-19520G>A
c.3819+16C>T (n.3819+16C>T)
c.3462+16C>T (n.3462+16C>T)
 dbSNP
2g.166228675G=CA1304943586SCN1A-AS1,SCN9Ac.4206+16C= (n.4206+16C=)
c.4050+16C= (n.4050+16C=)
c.4173+16C= (n.4173+16C=)
n.612-19520G=
c.3819+16C= (n.3819+16C=)
c.3462+16C= (n.3462+16C=)
2g.166228675G>TCA2661765419SCN1A-AS1,SCN9Ac.4206+16C>A (n.4206+16C>A)
c.4050+16C>A (n.4050+16C>A)
c.4173+16C>A (n.4173+16C>A)
n.612-19520G>T
c.3819+16C>A (n.3819+16C>A)
c.3462+16C>A (n.3462+16C>A)
 gnomAD v4
2g.166228676A=CA1304943588SCN1A-AS1,SCN9Ac.4206+15T= (n.4206+15T=)
c.4050+15T= (n.4050+15T=)
c.4173+15T= (n.4173+15T=)
n.612-19519A=
c.3819+15T= (n.3819+15T=)
c.3462+15T= (n.3462+15T=)
2g.166228676A>GCA59810192SCN1A-AS1,SCN9Ac.4206+15T>C (n.4206+15T>C)
c.4050+15T>C (n.4050+15T>C)
c.4173+15T>C (n.4173+15T>C)
n.612-19519A>G
c.3819+15T>C (n.3819+15T>C)
c.3462+15T>C (n.3462+15T>C)
 dbSNP gnomAD v4
2g.166228676_166228677insTCA2740339108SCN1A-AS1,SCN9Ac.4206+14_4206+15insA (n.4206+14_4206+15insA)
c.4050+14_4050+15insA (n.4050+14_4050+15insA)
c.4173+14_4173+15insA (n.4173+14_4173+15insA)
n.612-19519_612-19518insT
c.3819+14_3819+15insA (n.3819+14_3819+15insA)
c.3462+14_3462+15insA (n.3462+14_3462+15insA)
2g.166228679T>CCA2573133516SCN1A-AS1,SCN9Ac.4206+12A>G (n.4206+12A>G)
c.4050+12A>G (n.4050+12A>G)
c.4173+12A>G (n.4173+12A>G)
n.612-19516T>C
c.3819+12A>G (n.3819+12A>G)
c.3462+12A>G (n.3462+12A>G)
 ClinVar dbSNP gnomAD v4
2g.166228679T>GCA2701010560SCN1A-AS1,SCN9Ac.4206+12A>C (n.4206+12A>C)
c.4050+12A>C (n.4050+12A>C)
c.4173+12A>C (n.4173+12A>C)
n.612-19516T>G
c.3819+12A>C (n.3819+12A>C)
c.3462+12A>C (n.3462+12A>C)
 dbSNP
2g.166228680G>ACA1038865931SCN1A-AS1,SCN9Ac.4206+11C>T (n.4206+11C>T)
c.4050+11C>T (n.4050+11C>T)
c.4173+11C>T (n.4173+11C>T)
n.612-19515G>A
c.3819+11C>T (n.3819+11C>T)
c.3462+11C>T (n.3462+11C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228680G=CA1304943589SCN1A-AS1,SCN9Ac.4206+11C= (n.4206+11C=)
c.4050+11C= (n.4050+11C=)
c.4173+11C= (n.4173+11C=)
n.612-19515G=
c.3819+11C= (n.3819+11C=)
c.3462+11C= (n.3462+11C=)
2g.166228682delCA2661765420SCN1A-AS1,SCN9Ac.4206+11del (n.4206+11del)
c.4050+11del (n.4050+11del)
c.4173+11del (n.4173+11del)
n.612-19513del
c.3819+11del (n.3819+11del)
c.3462+11del (n.3462+11del)
 gnomAD v4
2g.166228682G>ACA1038865934SCN1A-AS1,SCN9Ac.4206+9C>T (n.4206+9C>T)
c.4050+9C>T (n.4050+9C>T)
c.4173+9C>T (n.4173+9C>T)
n.612-19513G>A
c.3819+9C>T (n.3819+9C>T)
c.3462+9C>T (n.3462+9C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228682G=CA1304943590SCN1A-AS1,SCN9Ac.4206+9C= (n.4206+9C=)
c.4050+9C= (n.4050+9C=)
c.4173+9C= (n.4173+9C=)
n.612-19513G=
c.3819+9C= (n.3819+9C=)
c.3462+9C= (n.3462+9C=)
2g.166228682G>TCA2661765421SCN1A-AS1,SCN9Ac.4206+9C>A (n.4206+9C>A)
c.4050+9C>A (n.4050+9C>A)
c.4173+9C>A (n.4173+9C>A)
n.612-19513G>T
c.3819+9C>A (n.3819+9C>A)
c.3462+9C>A (n.3462+9C>A)
 gnomAD v4
2g.166228684_166228685delinsCACA1304943591SCN1A-AS1,SCN9Ac.4206+6_4206+7delinsTG (n.4206+6_4206+7delinsTG)
c.4050+6_4050+7delinsTG (n.4050+6_4050+7delinsTG)
c.4173+6_4173+7delinsTG (n.4173+6_4173+7delinsTG)
n.612-19511_612-19510delinsCA
c.3819+6_3819+7delinsTG (n.3819+6_3819+7delinsTG)
c.3462+6_3462+7delinsTG (n.3462+6_3462+7delinsTG)
2g.166228685delCA537511612SCN1A-AS1,SCN9Ac.4206+6del (n.4206+6del)
c.4050+6del (n.4050+6del)
c.4173+6del (n.4173+6del)
n.612-19510del
c.3819+6del (n.3819+6del)
c.3462+6del (n.3462+6del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228686C=CA1304943592SCN1A-AS1,SCN9Ac.4206+5G= (n.4206+5G=)
c.4050+5G= (n.4050+5G=)
c.4173+5G= (n.4173+5G=)
n.612-19509C=
c.3819+5G= (n.3819+5G=)
c.3462+5G= (n.3462+5G=)
2g.166228686C>TCA760184414SCN1A-AS1,SCN9Ac.4206+5G>A (n.4206+5G>A)
c.4050+5G>A (n.4050+5G>A)
c.4173+5G>A (n.4173+5G>A)
n.612-19509C>T
c.3819+5G>A (n.3819+5G>A)
c.3462+5G>A (n.3462+5G>A)
 dbSNP
2g.166228688T>CCA1304943594SCN1A-AS1,SCN9Ac.4206+3A>G (n.4206+3A>G)
c.4050+3A>G (n.4050+3A>G)
c.4173+3A>G (n.4173+3A>G)
n.612-19507T>C
c.3819+3A>G (n.3819+3A>G)
c.3462+3A>G (n.3462+3A>G)
 ClinVar dbSNP gnomAD v4
2g.166228688T=CA1304943593SCN1A-AS1,SCN9Ac.4206+3A= (n.4206+3A=)
c.4050+3A= (n.4050+3A=)
c.4173+3A= (n.4173+3A=)
n.612-19507T=
c.3819+3A= (n.3819+3A=)
c.3462+3A= (n.3462+3A=)
2g.166228689A>CCA349063138SCN1A-AS1,SCN9Ac.4206+2T>G (n.4206+2T>G)
c.4050+2T>G (n.4050+2T>G)
c.4173+2T>G (n.4173+2T>G)
n.612-19506A>C
c.3819+2T>G (n.3819+2T>G)
c.3462+2T>G (n.3462+2T>G)
2g.166228689A>GCA349063139SCN1A-AS1,SCN9Ac.4206+2T>C (n.4206+2T>C)
c.4050+2T>C (n.4050+2T>C)
c.4173+2T>C (n.4173+2T>C)
n.612-19506A>G
c.3819+2T>C (n.3819+2T>C)
c.3462+2T>C (n.3462+2T>C)
2g.166228689A>TCA349063142SCN1A-AS1,SCN9Ac.4206+2T>A (n.4206+2T>A)
c.4050+2T>A (n.4050+2T>A)
c.4173+2T>A (n.4173+2T>A)
n.612-19506A>T
c.3819+2T>A (n.3819+2T>A)
c.3462+2T>A (n.3462+2T>A)
2g.166228689dupCA2740095886SCN1A-AS1,SCN9Ac.4206+2dup (n.4206+2dup)
c.4050+2dup (n.4050+2dup)
c.4173+2dup (n.4173+2dup)
n.612-19506dup
c.3819+2dup (n.3819+2dup)
c.3462+2dup (n.3462+2dup)
 ClinVar
2g.166228690_166228691delCA2577144832SCN1A-AS1,SCN9Ac.4206+1_4206+2del
c.4050+1_4050+2del
c.4173+1_4173+2del
n.612-19505_612-19504del
c.3819+1_3819+2del
c.3462+1_3462+2del
2g.166228690C>ACA1943932SCN1A-AS1,SCN9Ac.4206+1G>T (n.4206+1G>T)
c.4050+1G>T (n.4050+1G>T)
c.4173+1G>T (n.4173+1G>T)
n.612-19505C>A
c.3819+1G>T (n.3819+1G>T)
c.3462+1G>T (n.3462+1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228690C=CA1304943595SCN1A-AS1,SCN9Ac.4206+1G= (n.4206+1G=)
c.4050+1G= (n.4050+1G=)
c.4173+1G= (n.4173+1G=)
n.612-19505C=
c.3819+1G= (n.3819+1G=)
c.3462+1G= (n.3462+1G=)
2g.166228690C>GCA349063145SCN1A-AS1,SCN9Ac.4206+1G>C (n.4206+1G>C)
c.4050+1G>C (n.4050+1G>C)
c.4173+1G>C (n.4173+1G>C)
n.612-19505C>G
c.3819+1G>C (n.3819+1G>C)
c.3462+1G>C (n.3462+1G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.166228690C>TCA349063147SCN1A-AS1,SCN9Ac.4206+1G>A (n.4206+1G>A)
c.4050+1G>A (n.4050+1G>A)
c.4173+1G>A (n.4173+1G>A)
n.612-19505C>T
c.3819+1G>A (n.3819+1G>A)
c.3462+1G>A (n.3462+1G>A)
2g.166228691A>CCA429899044SCN1A-AS1,SCN9Ac.4206T>G (p.Val1402=)
c.4050T>G (p.Val1350=)
c.4173T>G (p.Val1391=)
n.612-19504A>C
c.3819T>G (p.Val1273=)
c.3462T>G (p.Val1154=)
2g.166228691A>GCA429899043SCN1A-AS1,SCN9Ac.4206T>C (p.Val1402=)
c.4050T>C (p.Val1350=)
c.4173T>C (p.Val1391=)
n.612-19504A>G
c.3819T>C (p.Val1273=)
c.3462T>C (p.Val1154=)
2g.166228691A>TCA429899042SCN1A-AS1,SCN9Ac.4206T>A (p.Val1402=)
c.4050T>A (p.Val1350=)
c.4173T>A (p.Val1391=)
n.612-19504A>T
c.3819T>A (p.Val1273=)
c.3462T>A (p.Val1154=)
2g.166228692A=CA1304943596SCN1A-AS1,SCN9Ac.4205T= (p.Val1402=)
c.4049T= (p.Val1350=)
c.4172T= (p.Val1391=)
n.612-19503A=
c.3818T= (p.Val1273=)
c.3461T= (p.Val1154=)
2g.166228692A>CCA349063149SCN1A-AS1,SCN9Ac.4205T>G (p.Val1402Gly)
c.4049T>G (p.Val1350Gly)
c.4172T>G (p.Val1391Gly)
n.612-19503A>C
c.3818T>G (p.Val1273Gly)
c.3461T>G (p.Val1154Gly)
 gnomAD v4
2g.166228692A>GCA1943933SCN1A-AS1,SCN9Ac.4205T>C (p.Val1402Ala)
c.4049T>C (p.Val1350Ala)
c.4172T>C (p.Val1391Ala)
n.612-19503A>G
c.3818T>C (p.Val1273Ala)
c.3461T>C (p.Val1154Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228692A>TCA349063152SCN1A-AS1,SCN9Ac.4205T>A (p.Val1402Asp)
c.4049T>A (p.Val1350Asp)
c.4172T>A (p.Val1391Asp)
n.612-19503A>T
c.3818T>A (p.Val1273Asp)
c.3461T>A (p.Val1154Asp)
2g.166228693C>ACA349063157SCN1A-AS1,SCN9Ac.4204G>T (p.Val1402Phe)
c.4048G>T (p.Val1350Phe)
c.4171G>T (p.Val1391Phe)
n.612-19502C>A
c.3817G>T (p.Val1273Phe)
c.3460G>T (p.Val1154Phe)
2g.166228693C>GCA349063159SCN1A-AS1,SCN9Ac.4204G>C (p.Val1402Leu)
c.4048G>C (p.Val1350Leu)
c.4171G>C (p.Val1391Leu)
n.612-19502C>G
c.3817G>C (p.Val1273Leu)
c.3460G>C (p.Val1154Leu)
2g.166228693C>TCA349063155SCN1A-AS1,SCN9Ac.4204G>A (p.Val1402Ile)
c.4048G>A (p.Val1350Ile)
c.4171G>A (p.Val1391Ile)
n.612-19502C>T
c.3817G>A (p.Val1273Ile)
c.3460G>A (p.Val1154Ile)
2g.166228694T>ACA349063163SCN1A-AS1,SCN9Ac.4203A>T (p.Gln1401His)
c.4047A>T (p.Gln1349His)
c.4170A>T (p.Gln1390His)
n.612-19501T>A
c.3816A>T (p.Gln1272His)
c.3459A>T (p.Gln1153His)
2g.166228694T>CCA429899049SCN1A-AS1,SCN9Ac.4203A>G (p.Gln1401=)
c.4047A>G (p.Gln1349=)
c.4170A>G (p.Gln1390=)
n.612-19501T>C
c.3816A>G (p.Gln1272=)
c.3459A>G (p.Gln1153=)
2g.166228694T>GCA349063161SCN1A-AS1,SCN9Ac.4203A>C (p.Gln1401His)
c.4047A>C (p.Gln1349His)
c.4170A>C (p.Gln1390His)
n.612-19501T>G
c.3816A>C (p.Gln1272His)
c.3459A>C (p.Gln1153His)
2g.166228695T>ACA349063166SCN1A-AS1,SCN9Ac.4202A>T (p.Gln1401Leu)
c.4046A>T (p.Gln1349Leu)
c.4169A>T (p.Gln1390Leu)
n.612-19500T>A
c.3815A>T (p.Gln1272Leu)
c.3458A>T (p.Gln1153Leu)
2g.166228695T>CCA349063168SCN1A-AS1,SCN9Ac.4202A>G (p.Gln1401Arg)
c.4046A>G (p.Gln1349Arg)
c.4169A>G (p.Gln1390Arg)
n.612-19500T>C
c.3815A>G (p.Gln1272Arg)
c.3458A>G (p.Gln1153Arg)
2g.166228695T>GCA349063170SCN1A-AS1,SCN9Ac.4202A>C (p.Gln1401Pro)
c.4046A>C (p.Gln1349Pro)
c.4169A>C (p.Gln1390Pro)
n.612-19500T>G
c.3815A>C (p.Gln1272Pro)
c.3458A>C (p.Gln1153Pro)
2g.166228696G>ACA349063172SCN1A-AS1,SCN9Ac.4201C>T (p.Gln1401Ter)
c.4045C>T (p.Gln1349Ter)
c.4168C>T (p.Gln1390Ter)
n.612-19499G>A
c.3814C>T (p.Gln1272Ter)
c.3457C>T (p.Gln1153Ter)
 dbSNP
2g.166228696G>CCA349063175SCN1A-AS1,SCN9Ac.4201C>G (p.Gln1401Glu)
c.4045C>G (p.Gln1349Glu)
c.4168C>G (p.Gln1390Glu)
n.612-19499G>C
c.3814C>G (p.Gln1272Glu)
c.3457C>G (p.Gln1153Glu)
 COSMIC COSMIC
2g.166228696G=CA1304943597SCN1A-AS1,SCN9Ac.4201C= (p.Gln1401=)
c.4045C= (p.Gln1349=)
c.4168C= (p.Gln1390=)
n.612-19499G=
c.3814C= (p.Gln1272=)
c.3457C= (p.Gln1153=)
2g.166228696G>TCA349063177SCN1A-AS1,SCN9Ac.4201C>A (p.Gln1401Lys)
c.4045C>A (p.Gln1349Lys)
c.4168C>A (p.Gln1390Lys)
n.612-19499G>T
c.3814C>A (p.Gln1272Lys)
c.3457C>A (p.Gln1153Lys)
2g.166228697A>CCA429899051SCN1A-AS1,SCN9Ac.4200T>G (p.Leu1400=)
c.4044T>G (p.Leu1348=)
c.4167T>G (p.Leu1389=)
n.612-19498A>C
c.3813T>G (p.Leu1271=)
c.3456T>G (p.Leu1152=)
2g.166228697A>GCA429899052SCN1A-AS1,SCN9Ac.4200T>C (p.Leu1400=)
c.4044T>C (p.Leu1348=)
c.4167T>C (p.Leu1389=)
n.612-19498A>G
c.3813T>C (p.Leu1271=)
c.3456T>C (p.Leu1152=)
2g.166228697A>TCA429899053SCN1A-AS1,SCN9Ac.4200T>A (p.Leu1400=)
c.4044T>A (p.Leu1348=)
c.4167T>A (p.Leu1389=)
n.612-19498A>T
c.3813T>A (p.Leu1271=)
c.3456T>A (p.Leu1152=)
2g.166228698A>CCA349063180SCN1A-AS1,SCN9Ac.4199T>G (p.Leu1400Arg)
c.4043T>G (p.Leu1348Arg)
c.4166T>G (p.Leu1389Arg)
n.612-19497A>C
c.3812T>G (p.Leu1271Arg)
c.3455T>G (p.Leu1152Arg)
2g.166228698A>GCA349063184SCN1A-AS1,SCN9Ac.4199T>C (p.Leu1400Pro)
c.4043T>C (p.Leu1348Pro)
c.4166T>C (p.Leu1389Pro)
n.612-19497A>G
c.3812T>C (p.Leu1271Pro)
c.3455T>C (p.Leu1152Pro)
2g.166228698A>TCA349063182SCN1A-AS1,SCN9Ac.4199T>A (p.Leu1400His)
c.4043T>A (p.Leu1348His)
c.4166T>A (p.Leu1389His)
n.612-19497A>T
c.3812T>A (p.Leu1271His)
c.3455T>A (p.Leu1152His)
2g.166228699G>ACA349063186SCN1A-AS1,SCN9Ac.4198C>T (p.Leu1400Phe)
c.4042C>T (p.Leu1348Phe)
c.4165C>T (p.Leu1389Phe)
n.612-19496G>A
c.3811C>T (p.Leu1271Phe)
c.3454C>T (p.Leu1152Phe)
2g.166228699G>CCA349063188SCN1A-AS1,SCN9Ac.4198C>G (p.Leu1400Val)
c.4042C>G (p.Leu1348Val)
c.4165C>G (p.Leu1389Val)
n.612-19496G>C
c.3811C>G (p.Leu1271Val)
c.3454C>G (p.Leu1152Val)
2g.166228699G>TCA349063190SCN1A-AS1,SCN9Ac.4198C>A (p.Leu1400Ile)
c.4042C>A (p.Leu1348Ile)
c.4165C>A (p.Leu1389Ile)
n.612-19496G>T
c.3811C>A (p.Leu1271Ile)
c.3454C>A (p.Leu1152Ile)
 ClinVar dbSNP
2g.166228700C>ACA429899056SCN1A-AS1,SCN9Ac.4197G>T (p.Leu1399=)
c.4041G>T (p.Leu1347=)
c.4164G>T (p.Leu1388=)
n.612-19495C>A
c.3810G>T (p.Leu1270=)
c.3453G>T (p.Leu1151=)
2g.166228700C=CA1304943598SCN1A-AS1,SCN9Ac.4197G= (p.Leu1399=)
c.4041G= (p.Leu1347=)
c.4164G= (p.Leu1388=)
n.612-19495C=
c.3810G= (p.Leu1270=)
c.3453G= (p.Leu1151=)
2g.166228700C>GCA429899057SCN1A-AS1,SCN9Ac.4197G>C (p.Leu1399=)
c.4041G>C (p.Leu1347=)
c.4164G>C (p.Leu1388=)
n.612-19495C>G
c.3810G>C (p.Leu1270=)
c.3453G>C (p.Leu1151=)
2g.166228700C>TCA1943934SCN1A-AS1,SCN9Ac.4197G>A (p.Leu1399=)
c.4041G>A (p.Leu1347=)
c.4164G>A (p.Leu1388=)
n.612-19495C>T
c.3810G>A (p.Leu1270=)
c.3453G>A (p.Leu1151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228701A>CCA349063196SCN1A-AS1,SCN9Ac.4196T>G (p.Leu1399Arg)
c.4040T>G (p.Leu1347Arg)
c.4163T>G (p.Leu1388Arg)
n.612-19494A>C
c.3809T>G (p.Leu1270Arg)
c.3452T>G (p.Leu1151Arg)
2g.166228701A>GCA349063200SCN1A-AS1,SCN9Ac.4196T>C (p.Leu1399Pro)
c.4040T>C (p.Leu1347Pro)
c.4163T>C (p.Leu1388Pro)
n.612-19494A>G
c.3809T>C (p.Leu1270Pro)
c.3452T>C (p.Leu1151Pro)
2g.166228701A>TCA349063198SCN1A-AS1,SCN9Ac.4196T>A (p.Leu1399Gln)
c.4040T>A (p.Leu1347Gln)
c.4163T>A (p.Leu1388Gln)
n.612-19494A>T
c.3809T>A (p.Leu1270Gln)
c.3452T>A (p.Leu1151Gln)
2g.166228704_166228705delCA2580614392SCN1A-AS1,SCN9Ac.4195_4196del (p.Leu1399AlafsTer7)
c.4039_4040del (p.Leu1347AlafsTer7)
c.4162_4163del (p.Leu1388AlafsTer7)
n.612-19491_612-19490del
c.3808_3809del (p.Leu1270AlafsTer7)
c.3451_3452del (p.Leu1151AlafsTer7)
 ClinVar dbSNP
2g.166228702G>ACA429899058SCN1A-AS1,SCN9Ac.4195C>T (p.Leu1399=)
c.4039C>T (p.Leu1347=)
c.4162C>T (p.Leu1388=)
n.612-19493G>A
c.3808C>T (p.Leu1270=)
c.3451C>T (p.Leu1151=)
2g.166228702G>CCA349063202SCN1A-AS1,SCN9Ac.4195C>G (p.Leu1399Val)
c.4039C>G (p.Leu1347Val)
c.4162C>G (p.Leu1388Val)
n.612-19493G>C
c.3808C>G (p.Leu1270Val)
c.3451C>G (p.Leu1151Val)
 dbSNP COSMIC
2g.166228702G=CA1304943599SCN1A-AS1,SCN9Ac.4195C= (p.Leu1399=)
c.4039C= (p.Leu1347=)
c.4162C= (p.Leu1388=)
n.612-19493G=
c.3808C= (p.Leu1270=)
c.3451C= (p.Leu1151=)
2g.166228702G>TCA349063204SCN1A-AS1,SCN9Ac.4195C>A (p.Leu1399Met)
c.4039C>A (p.Leu1347Met)
c.4162C>A (p.Leu1388Met)
n.612-19493G>T
c.3808C>A (p.Leu1270Met)
c.3451C>A (p.Leu1151Met)
2g.166228703A>CCA429899062SCN1A-AS1,SCN9Ac.4194T>G (p.Ser1398=)
c.4038T>G (p.Ser1346=)
c.4161T>G (p.Ser1387=)
n.612-19492A>C
c.3807T>G (p.Ser1269=)
c.3450T>G (p.Ser1150=)
2g.166228703A>GCA429899063SCN1A-AS1,SCN9Ac.4194T>C (p.Ser1398=)
c.4038T>C (p.Ser1346=)
c.4161T>C (p.Ser1387=)
n.612-19492A>G
c.3807T>C (p.Ser1269=)
c.3450T>C (p.Ser1150=)
2g.166228703A>TCA429899064SCN1A-AS1,SCN9Ac.4194T>A (p.Ser1398=)
c.4038T>A (p.Ser1346=)
c.4161T>A (p.Ser1387=)
n.612-19492A>T
c.3807T>A (p.Ser1269=)
c.3450T>A (p.Ser1150=)
2g.166228704G>ACA349063206SCN1A-AS1,SCN9Ac.4193C>T (p.Ser1398Phe)
c.4037C>T (p.Ser1346Phe)
c.4160C>T (p.Ser1387Phe)
n.612-19491G>A
c.3806C>T (p.Ser1269Phe)
c.3449C>T (p.Ser1150Phe)
2g.166228704G>CCA349063208SCN1A-AS1,SCN9Ac.4193C>G (p.Ser1398Cys)
c.4037C>G (p.Ser1346Cys)
c.4160C>G (p.Ser1387Cys)
n.612-19491G>C
c.3806C>G (p.Ser1269Cys)
c.3449C>G (p.Ser1150Cys)
2g.166228704G>TCA349063210SCN1A-AS1,SCN9Ac.4193C>A (p.Ser1398Tyr)
c.4037C>A (p.Ser1346Tyr)
c.4160C>A (p.Ser1387Tyr)
n.612-19491G>T
c.3806C>A (p.Ser1269Tyr)
c.3449C>A (p.Ser1150Tyr)
2g.166228705A=CA1304943600SCN1A-AS1,SCN9Ac.4192T= (p.Ser1398=)
c.4036T= (p.Ser1346=)
c.4159T= (p.Ser1387=)
n.612-19490A=
c.3805T= (p.Ser1269=)
c.3448T= (p.Ser1150=)
2g.166228705A>CCA349063212SCN1A-AS1,SCN9Ac.4192T>G (p.Ser1398Ala)
c.4036T>G (p.Ser1346Ala)
c.4159T>G (p.Ser1387Ala)
n.612-19490A>C
c.3805T>G (p.Ser1269Ala)
c.3448T>G (p.Ser1150Ala)
2g.166228705A>GCA349063214SCN1A-AS1,SCN9Ac.4192T>C (p.Ser1398Pro)
c.4036T>C (p.Ser1346Pro)
c.4159T>C (p.Ser1387Pro)
n.612-19490A>G
c.3805T>C (p.Ser1269Pro)
c.3448T>C (p.Ser1150Pro)
2g.166228705A>TCA349063216SCN1A-AS1,SCN9Ac.4192T>A (p.Ser1398Thr)
c.4036T>A (p.Ser1346Thr)
c.4159T>A (p.Ser1387Thr)
n.612-19490A>T
c.3805T>A (p.Ser1269Thr)
c.3448T>A (p.Ser1150Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.166228706T>ACA429899070SCN1A-AS1,SCN9Ac.4191A>T (p.Leu1397=)
c.4035A>T (p.Leu1345=)
c.4158A>T (p.Leu1386=)
n.612-19489T>A
c.3804A>T (p.Leu1268=)
c.3447A>T (p.Leu1149=)
2g.166228706T>CCA429899071SCN1A-AS1,SCN9Ac.4191A>G (p.Leu1397=)
c.4035A>G (p.Leu1345=)
c.4158A>G (p.Leu1386=)
n.612-19489T>C
c.3804A>G (p.Leu1268=)
c.3447A>G (p.Leu1149=)
2g.166228706T>GCA429899072SCN1A-AS1,SCN9Ac.4191A>C (p.Leu1397=)
c.4035A>C (p.Leu1345=)
c.4158A>C (p.Leu1386=)
n.612-19489T>G
c.3804A>C (p.Leu1268=)
c.3447A>C (p.Leu1149=)
2g.166228707A=CA1304943601SCN1A-AS1,SCN9Ac.4190T= (p.Leu1397=)
c.4034T= (p.Leu1345=)
c.4157T= (p.Leu1386=)
n.612-19488A=
c.3803T= (p.Leu1268=)
c.3446T= (p.Leu1149=)
2g.166228707A>CCA349063218SCN1A-AS1,SCN9Ac.4190T>G (p.Leu1397Arg)
c.4034T>G (p.Leu1345Arg)
c.4157T>G (p.Leu1386Arg)
n.612-19488A>C
c.3803T>G (p.Leu1268Arg)
c.3446T>G (p.Leu1149Arg)
2g.166228707A>GCA349063220SCN1A-AS1,SCN9Ac.4190T>C (p.Leu1397Pro)
c.4034T>C (p.Leu1345Pro)
c.4157T>C (p.Leu1386Pro)
n.612-19488A>G
c.3803T>C (p.Leu1268Pro)
c.3446T>C (p.Leu1149Pro)
 ClinVar dbSNP
2g.166228707A>TCA349063222SCN1A-AS1,SCN9Ac.4190T>A (p.Leu1397Gln)
c.4034T>A (p.Leu1345Gln)
c.4157T>A (p.Leu1386Gln)
n.612-19488A>T
c.3803T>A (p.Leu1268Gln)
c.3446T>A (p.Leu1149Gln)
2g.166228708G>ACA429899074SCN1A-AS1,SCN9Ac.4189C>T (p.Leu1397=)
c.4033C>T (p.Leu1345=)
c.4156C>T (p.Leu1386=)
n.612-19487G>A
c.3802C>T (p.Leu1268=)
c.3445C>T (p.Leu1149=)
 dbSNP gnomAD v4
2g.166228708G>CCA349063226SCN1A-AS1,SCN9Ac.4189C>G (p.Leu1397Val)
c.4033C>G (p.Leu1345Val)
c.4156C>G (p.Leu1386Val)
n.612-19487G>C
c.3802C>G (p.Leu1268Val)
c.3445C>G (p.Leu1149Val)
2g.166228708G=CA1304943602SCN1A-AS1,SCN9Ac.4189C= (p.Leu1397=)
c.4033C= (p.Leu1345=)
c.4156C= (p.Leu1386=)
n.612-19487G=
c.3802C= (p.Leu1268=)
c.3445C= (p.Leu1149=)
2g.166228708G>TCA59810203SCN1A-AS1,SCN9Ac.4189C>A (p.Leu1397Ile)
c.4033C>A (p.Leu1345Ile)
c.4156C>A (p.Leu1386Ile)
n.612-19487G>T
c.3802C>A (p.Leu1268Ile)
c.3445C>A (p.Leu1149Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228709G>ACA429899077SCN1A-AS1,SCN9Ac.4188C>T (p.Tyr1396=)
c.4032C>T (p.Tyr1344=)
c.4155C>T (p.Tyr1385=)
n.612-19486G>A
c.3801C>T (p.Tyr1267=)
c.3444C>T (p.Tyr1148=)
2g.166228709G>CCA349063229SCN1A-AS1,SCN9Ac.4188C>G (p.Tyr1396Ter)
c.4032C>G (p.Tyr1344Ter)
c.4155C>G (p.Tyr1385Ter)
n.612-19486G>C
c.3801C>G (p.Tyr1267Ter)
c.3444C>G (p.Tyr1148Ter)
2g.166228709G>TCA349063231SCN1A-AS1,SCN9Ac.4188C>A (p.Tyr1396Ter)
c.4032C>A (p.Tyr1344Ter)
c.4155C>A (p.Tyr1385Ter)
n.612-19486G>T
c.3801C>A (p.Tyr1267Ter)
c.3444C>A (p.Tyr1148Ter)
2g.166228710T>ACA349063234SCN1A-AS1,SCN9Ac.4187A>T (p.Tyr1396Phe)
c.4031A>T (p.Tyr1344Phe)
c.4154A>T (p.Tyr1385Phe)
n.612-19485T>A
c.3800A>T (p.Tyr1267Phe)
c.3443A>T (p.Tyr1148Phe)
2g.166228710T>CCA349063235SCN1A-AS1,SCN9Ac.4187A>G (p.Tyr1396Cys)
c.4031A>G (p.Tyr1344Cys)
c.4154A>G (p.Tyr1385Cys)
n.612-19485T>C
c.3800A>G (p.Tyr1267Cys)
c.3443A>G (p.Tyr1148Cys)
2g.166228710T>GCA349063237SCN1A-AS1,SCN9Ac.4187A>C (p.Tyr1396Ser)
c.4031A>C (p.Tyr1344Ser)
c.4154A>C (p.Tyr1385Ser)
n.612-19485T>G
c.3800A>C (p.Tyr1267Ser)
c.3443A>C (p.Tyr1148Ser)
2g.166228711A>CCA349063239SCN1A-AS1,SCN9Ac.4186T>G (p.Tyr1396Asp)
c.4030T>G (p.Tyr1344Asp)
c.4153T>G (p.Tyr1385Asp)
n.612-19484A>C
c.3799T>G (p.Tyr1267Asp)
c.3442T>G (p.Tyr1148Asp)
2g.166228711A>GCA349063241SCN1A-AS1,SCN9Ac.4186T>C (p.Tyr1396His)
c.4030T>C (p.Tyr1344His)
c.4153T>C (p.Tyr1385His)
n.612-19484A>G
c.3799T>C (p.Tyr1267His)
c.3442T>C (p.Tyr1148His)
2g.166228711A>TCA349063243SCN1A-AS1,SCN9Ac.4186T>A (p.Tyr1396Asn)
c.4030T>A (p.Tyr1344Asn)
c.4153T>A (p.Tyr1385Asn)
n.612-19484A>T
c.3799T>A (p.Tyr1267Asn)
c.3442T>A (p.Tyr1148Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.166228712A>CCA429899079SCN1A-AS1,SCN9Ac.4185T>G (p.Gly1395=)
c.4029T>G (p.Gly1343=)
c.4152T>G (p.Gly1384=)
n.612-19483A>C
c.3798T>G (p.Gly1266=)
c.3441T>G (p.Gly1147=)
2g.166228712A>GCA429899081SCN1A-AS1,SCN9Ac.4185T>C (p.Gly1395=)
c.4029T>C (p.Gly1343=)
c.4152T>C (p.Gly1384=)
n.612-19483A>G
c.3798T>C (p.Gly1266=)
c.3441T>C (p.Gly1147=)
2g.166228712A>TCA429899080SCN1A-AS1,SCN9Ac.4185T>A (p.Gly1395=)
c.4029T>A (p.Gly1343=)
c.4152T>A (p.Gly1384=)
n.612-19483A>T
c.3798T>A (p.Gly1266=)
c.3441T>A (p.Gly1147=)
2g.166228713C>ACA349063245SCN1A-AS1,SCN9Ac.4184G>T (p.Gly1395Val)
c.4028G>T (p.Gly1343Val)
c.4151G>T (p.Gly1384Val)
n.612-19482C>A
c.3797G>T (p.Gly1266Val)
c.3440G>T (p.Gly1147Val)
 ClinVar dbSNP gnomAD v4
2g.166228713C=CA1304943603SCN1A-AS1,SCN9Ac.4184G= (p.Gly1395=)
c.4028G= (p.Gly1343=)
c.4151G= (p.Gly1384=)
n.612-19482C=
c.3797G= (p.Gly1266=)
c.3440G= (p.Gly1147=)
2g.166228713C>GCA349063248SCN1A-AS1,SCN9Ac.4184G>C (p.Gly1395Ala)
c.4028G>C (p.Gly1343Ala)
c.4151G>C (p.Gly1384Ala)
n.612-19482C>G
c.3797G>C (p.Gly1266Ala)
c.3440G>C (p.Gly1147Ala)
 gnomAD v4
2g.166228713C>TCA1943935SCN1A-AS1,SCN9Ac.4184G>A (p.Gly1395Asp)
c.4028G>A (p.Gly1343Asp)
c.4151G>A (p.Gly1384Asp)
n.612-19482C>T
c.3797G>A (p.Gly1266Asp)
c.3440G>A (p.Gly1147Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228714C>ACA349063252SCN1A-AS1,SCN9Ac.4183G>T (p.Gly1395Cys)
c.4027G>T (p.Gly1343Cys)
c.4150G>T (p.Gly1384Cys)
n.612-19481C>A
c.3796G>T (p.Gly1266Cys)
c.3439G>T (p.Gly1147Cys)
2g.166228714C>GCA349063257SCN1A-AS1,SCN9Ac.4183G>C (p.Gly1395Arg)
c.4027G>C (p.Gly1343Arg)
c.4150G>C (p.Gly1384Arg)
n.612-19481C>G
c.3796G>C (p.Gly1266Arg)
c.3439G>C (p.Gly1147Arg)
 ClinVar gnomAD v4
2g.166228714C>TCA349063259SCN1A-AS1,SCN9Ac.4183G>A (p.Gly1395Ser)
c.4027G>A (p.Gly1343Ser)
c.4150G>A (p.Gly1384Ser)
n.612-19481C>T
c.3796G>A (p.Gly1266Ser)
c.3439G>A (p.Gly1147Ser)
 gnomAD v4
2g.166228715A>CCA429899085SCN1A-AS1,SCN9Ac.4182T>G (p.Leu1394=)
c.4026T>G (p.Leu1342=)
c.4149T>G (p.Leu1383=)
n.612-19480A>C
c.3795T>G (p.Leu1265=)
c.3438T>G (p.Leu1146=)
2g.166228715A>GCA429899086SCN1A-AS1,SCN9Ac.4182T>C (p.Leu1394=)
c.4026T>C (p.Leu1342=)
c.4149T>C (p.Leu1383=)
n.612-19480A>G
c.3795T>C (p.Leu1265=)
c.3438T>C (p.Leu1146=)
2g.166228715A>TCA429899087SCN1A-AS1,SCN9Ac.4182T>A (p.Leu1394=)
c.4026T>A (p.Leu1342=)
c.4149T>A (p.Leu1383=)
n.612-19480A>T
c.3795T>A (p.Leu1265=)
c.3438T>A (p.Leu1146=)
2g.166228716A>CCA349063267SCN1A-AS1,SCN9Ac.4181T>G (p.Leu1394Arg)
c.4025T>G (p.Leu1342Arg)
c.4148T>G (p.Leu1383Arg)
n.612-19479A>C
c.3794T>G (p.Leu1265Arg)
c.3437T>G (p.Leu1146Arg)
2g.166228716A>GCA349063265SCN1A-AS1,SCN9Ac.4181T>C (p.Leu1394Pro)
c.4025T>C (p.Leu1342Pro)
c.4148T>C (p.Leu1383Pro)
n.612-19479A>G
c.3794T>C (p.Leu1265Pro)
c.3437T>C (p.Leu1146Pro)
2g.166228716A>TCA349063263SCN1A-AS1,SCN9Ac.4181T>A (p.Leu1394His)
c.4025T>A (p.Leu1342His)
c.4148T>A (p.Leu1383His)
n.612-19479A>T
c.3794T>A (p.Leu1265His)
c.3437T>A (p.Leu1146His)
 gnomAD v4
2g.166228717G>ACA349063269SCN1A-AS1,SCN9Ac.4180C>T (p.Leu1394Phe)
c.4024C>T (p.Leu1342Phe)
c.4147C>T (p.Leu1383Phe)
n.612-19478G>A
c.3793C>T (p.Leu1265Phe)
c.3436C>T (p.Leu1146Phe)
 dbSNP
2g.166228717G>CCA349063271SCN1A-AS1,SCN9Ac.4180C>G (p.Leu1394Val)
c.4024C>G (p.Leu1342Val)
c.4147C>G (p.Leu1383Val)
n.612-19478G>C
c.3793C>G (p.Leu1265Val)
c.3436C>G (p.Leu1146Val)
2g.166228717G=CA1304943604SCN1A-AS1,SCN9Ac.4180C= (p.Leu1394=)
c.4024C= (p.Leu1342=)
c.4147C= (p.Leu1383=)
n.612-19478G=
c.3793C= (p.Leu1265=)
c.3436C= (p.Leu1146=)
2g.166228717G>TCA349063273SCN1A-AS1,SCN9Ac.4180C>A (p.Leu1394Ile)
c.4024C>A (p.Leu1342Ile)
c.4147C>A (p.Leu1383Ile)
n.612-19478G>T
c.3793C>A (p.Leu1265Ile)
c.3436C>A (p.Leu1146Ile)
2g.166228718T>ACA429899089SCN1A-AS1,SCN9Ac.4179A>T (p.Gly1393=)
c.4023A>T (p.Gly1341=)
c.4146A>T (p.Gly1382=)
n.612-19477T>A
c.3792A>T (p.Gly1264=)
c.3435A>T (p.Gly1145=)
2g.166228718T>CCA429899090SCN1A-AS1,SCN9Ac.4179A>G (p.Gly1393=)
c.4023A>G (p.Gly1341=)
c.4146A>G (p.Gly1382=)
n.612-19477T>C
c.3792A>G (p.Gly1264=)
c.3435A>G (p.Gly1145=)
2g.166228718T>GCA429899091SCN1A-AS1,SCN9Ac.4179A>C (p.Gly1393=)
c.4023A>C (p.Gly1341=)
c.4146A>C (p.Gly1382=)
n.612-19477T>G
c.3792A>C (p.Gly1264=)
c.3435A>C (p.Gly1145=)
2g.166228719C>ACA349063277SCN1A-AS1,SCN9Ac.4178G>T (p.Gly1393Val)
c.4022G>T (p.Gly1341Val)
c.4145G>T (p.Gly1382Val)
n.612-19476C>A
c.3791G>T (p.Gly1264Val)
c.3434G>T (p.Gly1145Val)
 gnomAD v4
2g.166228719C>GCA349063278SCN1A-AS1,SCN9Ac.4178G>C (p.Gly1393Ala)
c.4022G>C (p.Gly1341Ala)
c.4145G>C (p.Gly1382Ala)
n.612-19476C>G
c.3791G>C (p.Gly1264Ala)
c.3434G>C (p.Gly1145Ala)
2g.166228719C>TCA349063281SCN1A-AS1,SCN9Ac.4178G>A (p.Gly1393Glu)
c.4022G>A (p.Gly1341Glu)
c.4145G>A (p.Gly1382Glu)
n.612-19476C>T
c.3791G>A (p.Gly1264Glu)
c.3434G>A (p.Gly1145Glu)
2g.166228720C>ACA349063283SCN1A-AS1,SCN9Ac.4177G>T (p.Gly1393Ter)
c.4021G>T (p.Gly1341Ter)
c.4144G>T (p.Gly1382Ter)
n.612-19475C>A
c.3790G>T (p.Gly1264Ter)
c.3433G>T (p.Gly1145Ter)
 dbSNP
2g.166228720C=CA1304943605SCN1A-AS1,SCN9Ac.4177G= (p.Gly1393=)
c.4021G= (p.Gly1341=)
c.4144G= (p.Gly1382=)
n.612-19475C=
c.3790G= (p.Gly1264=)
c.3433G= (p.Gly1145=)
2g.166228720C>GCA349063285SCN1A-AS1,SCN9Ac.4177G>C (p.Gly1393Arg)
c.4021G>C (p.Gly1341Arg)
c.4144G>C (p.Gly1382Arg)
n.612-19475C>G
c.3790G>C (p.Gly1264Arg)
c.3433G>C (p.Gly1145Arg)
2g.166228720C>TCA1943936SCN1A-AS1,SCN9Ac.4177G>A (p.Gly1393Arg)
c.4021G>A (p.Gly1341Arg)
c.4144G>A (p.Gly1382Arg)
n.612-19475C>T
c.3790G>A (p.Gly1264Arg)
c.3433G>A (p.Gly1145Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228721G>ACA1943937SCN1A-AS1,SCN9Ac.4176C>T (p.Val1392=)
c.4020C>T (p.Val1340=)
c.4143C>T (p.Val1381=)
n.612-19474G>A
c.3789C>T (p.Val1263=)
c.3432C>T (p.Val1144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228721G>CCA429899093SCN1A-AS1,SCN9Ac.4176C>G (p.Val1392=)
c.4020C>G (p.Val1340=)
c.4143C>G (p.Val1381=)
n.612-19474G>C
c.3789C>G (p.Val1263=)
c.3432C>G (p.Val1144=)
2g.166228721G=CA1304943606SCN1A-AS1,SCN9Ac.4176C= (p.Val1392=)
c.4020C= (p.Val1340=)
c.4143C= (p.Val1381=)
n.612-19474G=
c.3789C= (p.Val1263=)
c.3432C= (p.Val1144=)
2g.166228721G>TCA429899095SCN1A-AS1,SCN9Ac.4176C>A (p.Val1392=)
c.4020C>A (p.Val1340=)
c.4143C>A (p.Val1381=)
n.612-19474G>T
c.3789C>A (p.Val1263=)
c.3432C>A (p.Val1144=)
 gnomAD v4
2g.166228722A>CCA349063290SCN1A-AS1,SCN9Ac.4175T>G (p.Val1392Gly)
c.4019T>G (p.Val1340Gly)
c.4142T>G (p.Val1381Gly)
n.612-19473A>C
c.3788T>G (p.Val1263Gly)
c.3431T>G (p.Val1144Gly)
2g.166228722A>GCA349063291SCN1A-AS1,SCN9Ac.4175T>C (p.Val1392Ala)
c.4019T>C (p.Val1340Ala)
c.4142T>C (p.Val1381Ala)
n.612-19473A>G
c.3788T>C (p.Val1263Ala)
c.3431T>C (p.Val1144Ala)
2g.166228722A>TCA349063294SCN1A-AS1,SCN9Ac.4175T>A (p.Val1392Asp)
c.4019T>A (p.Val1340Asp)
c.4142T>A (p.Val1381Asp)
n.612-19473A>T
c.3788T>A (p.Val1263Asp)
c.3431T>A (p.Val1144Asp)
2g.166228723C>ACA349063298SCN1A-AS1,SCN9Ac.4174G>T (p.Val1392Phe)
c.4018G>T (p.Val1340Phe)
c.4141G>T (p.Val1381Phe)
n.612-19472C>A
c.3787G>T (p.Val1263Phe)
c.3430G>T (p.Val1144Phe)
2g.166228723C=CA1304943607SCN1A-AS1,SCN9Ac.4174G= (p.Val1392=)
c.4018G= (p.Val1340=)
c.4141G= (p.Val1381=)
n.612-19472C=
c.3787G= (p.Val1263=)
c.3430G= (p.Val1144=)
2g.166228723C>GCA349063301SCN1A-AS1,SCN9Ac.4174G>C (p.Val1392Leu)
c.4018G>C (p.Val1340Leu)
c.4141G>C (p.Val1381Leu)
n.612-19472C>G
c.3787G>C (p.Val1263Leu)
c.3430G>C (p.Val1144Leu)
2g.166228723C>TCA349063296SCN1A-AS1,SCN9Ac.4174G>A (p.Val1392Ile)
c.4018G>A (p.Val1340Ile)
c.4141G>A (p.Val1381Ile)
n.612-19472C>T
c.3787G>A (p.Val1263Ile)
c.3430G>A (p.Val1144Ile)
 ClinVar dbSNP gnomAD v4
2g.166228724A=CA1304943608SCN1A-AS1,SCN9Ac.4173T= (p.Asn1391=)
c.4017T= (p.Asn1339=)
c.4140T= (p.Asn1380=)
n.612-19471A=
c.3786T= (p.Asn1262=)
c.3429T= (p.Asn1143=)
2g.166228724A>CCA349063303SCN1A-AS1,SCN9Ac.4173T>G (p.Asn1391Lys)
c.4017T>G (p.Asn1339Lys)
c.4140T>G (p.Asn1380Lys)
n.612-19471A>C
c.3786T>G (p.Asn1262Lys)
c.3429T>G (p.Asn1143Lys)
2g.166228724A>GCA59810222SCN1A-AS1,SCN9Ac.4173T>C (p.Asn1391=)
c.4017T>C (p.Asn1339=)
c.4140T>C (p.Asn1380=)
n.612-19471A>G
c.3786T>C (p.Asn1262=)
c.3429T>C (p.Asn1143=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228724A>TCA349063305SCN1A-AS1,SCN9Ac.4173T>A (p.Asn1391Lys)
c.4017T>A (p.Asn1339Lys)
c.4140T>A (p.Asn1380Lys)
n.612-19471A>T
c.3786T>A (p.Asn1262Lys)
c.3429T>A (p.Asn1143Lys)
2g.166228725T>ACA349063309SCN1A-AS1,SCN9Ac.4172A>T (p.Asn1391Ile)
c.4016A>T (p.Asn1339Ile)
c.4139A>T (p.Asn1380Ile)
n.612-19470T>A
c.3785A>T (p.Asn1262Ile)
c.3428A>T (p.Asn1143Ile)
2g.166228725T>CCA349063313SCN1A-AS1,SCN9Ac.4172A>G (p.Asn1391Ser)
c.4016A>G (p.Asn1339Ser)
c.4139A>G (p.Asn1380Ser)
n.612-19470T>C
c.3785A>G (p.Asn1262Ser)
c.3428A>G (p.Asn1143Ser)
2g.166228725T>GCA349063311SCN1A-AS1,SCN9Ac.4172A>C (p.Asn1391Thr)
c.4016A>C (p.Asn1339Thr)
c.4139A>C (p.Asn1380Thr)
n.612-19470T>G
c.3785A>C (p.Asn1262Thr)
c.3428A>C (p.Asn1143Thr)
2g.166228726T>ACA349063315SCN1A-AS1,SCN9Ac.4171A>T (p.Asn1391Tyr)
c.4015A>T (p.Asn1339Tyr)
c.4138A>T (p.Asn1380Tyr)
n.612-19469T>A
c.3784A>T (p.Asn1262Tyr)
c.3427A>T (p.Asn1143Tyr)
2g.166228726T>CCA349063320SCN1A-AS1,SCN9Ac.4171A>G (p.Asn1391Asp)
c.4015A>G (p.Asn1339Asp)
c.4138A>G (p.Asn1380Asp)
n.612-19469T>C
c.3784A>G (p.Asn1262Asp)
c.3427A>G (p.Asn1143Asp)
 ClinVar dbSNP
2g.166228726T>GCA349063317SCN1A-AS1,SCN9Ac.4171A>C (p.Asn1391His)
c.4015A>C (p.Asn1339His)
c.4138A>C (p.Asn1380His)
n.612-19469T>G
c.3784A>C (p.Asn1262His)
c.3427A>C (p.Asn1143His)
2g.166228727A>CCA349063322SCN1A-AS1,SCN9Ac.4170T>G (p.Asp1390Glu)
c.4014T>G (p.Asp1338Glu)
c.4137T>G (p.Asp1379Glu)
n.612-19468A>C
c.3783T>G (p.Asp1261Glu)
c.3426T>G (p.Asp1142Glu)
2g.166228727A>GCA429899098SCN1A-AS1,SCN9Ac.4170T>C (p.Asp1390=)
c.4014T>C (p.Asp1338=)
c.4137T>C (p.Asp1379=)
n.612-19468A>G
c.3783T>C (p.Asp1261=)
c.3426T>C (p.Asp1142=)
 ClinVar dbSNP
2g.166228727A>TCA349063324SCN1A-AS1,SCN9Ac.4170T>A (p.Asp1390Glu)
c.4014T>A (p.Asp1338Glu)
c.4137T>A (p.Asp1379Glu)
n.612-19468A>T
c.3783T>A (p.Asp1261Glu)
c.3426T>A (p.Asp1142Glu)
2g.166228728T>ACA349063326SCN1A-AS1,SCN9Ac.4169A>T (p.Asp1390Val)
c.4013A>T (p.Asp1338Val)
c.4136A>T (p.Asp1379Val)
n.612-19467T>A
c.3782A>T (p.Asp1261Val)
c.3425A>T (p.Asp1142Val)
2g.166228728T>CCA349063327SCN1A-AS1,SCN9Ac.4169A>G (p.Asp1390Gly)
c.4013A>G (p.Asp1338Gly)
c.4136A>G (p.Asp1379Gly)
n.612-19467T>C
c.3782A>G (p.Asp1261Gly)
c.3425A>G (p.Asp1142Gly)
2g.166228728T>GCA349063329SCN1A-AS1,SCN9Ac.4169A>C (p.Asp1390Ala)
c.4013A>C (p.Asp1338Ala)
c.4136A>C (p.Asp1379Ala)
n.612-19467T>G
c.3782A>C (p.Asp1261Ala)
c.3425A>C (p.Asp1142Ala)
2g.166228729C>ACA349063332SCN1A-AS1,SCN9Ac.4168G>T (p.Asp1390Tyr)
c.4012G>T (p.Asp1338Tyr)
c.4135G>T (p.Asp1379Tyr)
n.612-19466C>A
c.3781G>T (p.Asp1261Tyr)
c.3424G>T (p.Asp1142Tyr)
 gnomAD v4
2g.166228729C=CA1304943609SCN1A-AS1,SCN9Ac.4168G= (p.Asp1390=)
c.4012G= (p.Asp1338=)
c.4135G= (p.Asp1379=)
n.612-19466C=
c.3781G= (p.Asp1261=)
c.3424G= (p.Asp1142=)
2g.166228729C>GCA349063334SCN1A-AS1,SCN9Ac.4168G>C (p.Asp1390His)
c.4012G>C (p.Asp1338His)
c.4135G>C (p.Asp1379His)
n.612-19466C>G
c.3781G>C (p.Asp1261His)
c.3424G>C (p.Asp1142His)
2g.166228729C>TCA1943938SCN1A-AS1,SCN9Ac.4168G>A (p.Asp1390Asn)
c.4012G>A (p.Asp1338Asn)
c.4135G>A (p.Asp1379Asn)
n.612-19466C>T
c.3781G>A (p.Asp1261Asn)
c.3424G>A (p.Asp1142Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228730A>CCA349063337SCN1A-AS1,SCN9Ac.4167T>G (p.Phe1389Leu)
c.4011T>G (p.Phe1337Leu)
c.4134T>G (p.Phe1378Leu)
n.612-19465A>C
c.3780T>G (p.Phe1260Leu)
c.3423T>G (p.Phe1141Leu)
2g.166228730A>GCA429899100SCN1A-AS1,SCN9Ac.4167T>C (p.Phe1389=)
c.4011T>C (p.Phe1337=)
c.4134T>C (p.Phe1378=)
n.612-19465A>G
c.3780T>C (p.Phe1260=)
c.3423T>C (p.Phe1141=)
2g.166228730A>TCA349063340SCN1A-AS1,SCN9Ac.4167T>A (p.Phe1389Leu)
c.4011T>A (p.Phe1337Leu)
c.4134T>A (p.Phe1378Leu)
n.612-19465A>T
c.3780T>A (p.Phe1260Leu)
c.3423T>A (p.Phe1141Leu)
2g.166228731A>CCA349063343SCN1A-AS1,SCN9Ac.4166T>G (p.Phe1389Cys)
c.4010T>G (p.Phe1337Cys)
c.4133T>G (p.Phe1378Cys)
n.612-19464A>C
c.3779T>G (p.Phe1260Cys)
c.3422T>G (p.Phe1141Cys)
2g.166228731A>GCA349063344SCN1A-AS1,SCN9Ac.4166T>C (p.Phe1389Ser)
c.4010T>C (p.Phe1337Ser)
c.4133T>C (p.Phe1378Ser)
n.612-19464A>G
c.3779T>C (p.Phe1260Ser)
c.3422T>C (p.Phe1141Ser)
2g.166228731A>TCA349063346SCN1A-AS1,SCN9Ac.4166T>A (p.Phe1389Tyr)
c.4010T>A (p.Phe1337Tyr)
c.4133T>A (p.Phe1378Tyr)
n.612-19464A>T
c.3779T>A (p.Phe1260Tyr)
c.3422T>A (p.Phe1141Tyr)
2g.166228732A>CCA349063353SCN1A-AS1,SCN9Ac.4165T>G (p.Phe1389Val)
c.4009T>G (p.Phe1337Val)
c.4132T>G (p.Phe1378Val)
n.612-19463A>C
c.3778T>G (p.Phe1260Val)
c.3421T>G (p.Phe1141Val)
2g.166228732A>GCA349063351SCN1A-AS1,SCN9Ac.4165T>C (p.Phe1389Leu)
c.4009T>C (p.Phe1337Leu)
c.4132T>C (p.Phe1378Leu)
n.612-19463A>G
c.3778T>C (p.Phe1260Leu)
c.3421T>C (p.Phe1141Leu)
2g.166228732A>TCA349063349SCN1A-AS1,SCN9Ac.4165T>A (p.Phe1389Ile)
c.4009T>A (p.Phe1337Ile)
c.4132T>A (p.Phe1378Ile)
n.612-19463A>T
c.3778T>A (p.Phe1260Ile)
c.3421T>A (p.Phe1141Ile)
2g.166228733G>ACA59810228SCN1A-AS1,SCN9Ac.4164C>T (p.Asn1388=)
c.4008C>T (p.Asn1336=)
c.4131C>T (p.Asn1377=)
n.612-19462G>A
c.3777C>T (p.Asn1259=)
c.3420C>T (p.Asn1140=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228733G>CCA349063356SCN1A-AS1,SCN9Ac.4164C>G (p.Asn1388Lys)
c.4008C>G (p.Asn1336Lys)
c.4131C>G (p.Asn1377Lys)
n.612-19462G>C
c.3777C>G (p.Asn1259Lys)
c.3420C>G (p.Asn1140Lys)
2g.166228733G=CA1304943610SCN1A-AS1,SCN9Ac.4164C= (p.Asn1388=)
c.4008C= (p.Asn1336=)
c.4131C= (p.Asn1377=)
n.612-19462G=
c.3777C= (p.Asn1259=)
c.3420C= (p.Asn1140=)
2g.166228733G>TCA349063358SCN1A-AS1,SCN9Ac.4164C>A (p.Asn1388Lys)
c.4008C>A (p.Asn1336Lys)
c.4131C>A (p.Asn1377Lys)
n.612-19462G>T
c.3777C>A (p.Asn1259Lys)
c.3420C>A (p.Asn1140Lys)
2g.166228734T>ACA349063361SCN1A-AS1,SCN9Ac.4163A>T (p.Asn1388Ile)
c.4007A>T (p.Asn1336Ile)
c.4130A>T (p.Asn1377Ile)
n.612-19461T>A
c.3776A>T (p.Asn1259Ile)
c.3419A>T (p.Asn1140Ile)
2g.166228734T>CCA59810232SCN1A-AS1,SCN9Ac.4163A>G (p.Asn1388Ser)
c.4007A>G (p.Asn1336Ser)
c.4130A>G (p.Asn1377Ser)
n.612-19461T>C
c.3776A>G (p.Asn1259Ser)
c.3419A>G (p.Asn1140Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228734T>GCA349063364SCN1A-AS1,SCN9Ac.4163A>C (p.Asn1388Thr)
c.4007A>C (p.Asn1336Thr)
c.4130A>C (p.Asn1377Thr)
n.612-19461T>G
c.3776A>C (p.Asn1259Thr)
c.3419A>C (p.Asn1140Thr)
2g.166228734T=CA1304943611SCN1A-AS1,SCN9Ac.4163A= (p.Asn1388=)
c.4007A= (p.Asn1336=)
c.4130A= (p.Asn1377=)
n.612-19461T=
c.3776A= (p.Asn1259=)
c.3419A= (p.Asn1140=)
2g.166228735T>ACA349063367SCN1A-AS1,SCN9Ac.4162A>T (p.Asn1388Tyr)
c.4006A>T (p.Asn1336Tyr)
c.4129A>T (p.Asn1377Tyr)
n.612-19460T>A
c.3775A>T (p.Asn1259Tyr)
c.3418A>T (p.Asn1140Tyr)
2g.166228735T>CCA349063368SCN1A-AS1,SCN9Ac.4162A>G (p.Asn1388Asp)
c.4006A>G (p.Asn1336Asp)
c.4129A>G (p.Asn1377Asp)
n.612-19460T>C
c.3775A>G (p.Asn1259Asp)
c.3418A>G (p.Asn1140Asp)
2g.166228735T>GCA349063371SCN1A-AS1,SCN9Ac.4162A>C (p.Asn1388His)
c.4006A>C (p.Asn1336His)
c.4129A>C (p.Asn1377His)
n.612-19460T>G
c.3775A>C (p.Asn1259His)
c.3418A>C (p.Asn1140His)
2g.166228736C>ACA429899102SCN1A-AS1,SCN9Ac.4161G>T (p.Val1387=)
c.4005G>T (p.Val1335=)
c.4128G>T (p.Val1376=)
n.612-19459C>A
c.3774G>T (p.Val1258=)
c.3417G>T (p.Val1139=)
2g.166228736C>GCA429899103SCN1A-AS1,SCN9Ac.4161G>C (p.Val1387=)
c.4005G>C (p.Val1335=)
c.4128G>C (p.Val1376=)
n.612-19459C>G
c.3774G>C (p.Val1258=)
c.3417G>C (p.Val1139=)
2g.166228736C>TCA429899104SCN1A-AS1,SCN9Ac.4161G>A (p.Val1387=)
c.4005G>A (p.Val1335=)
c.4128G>A (p.Val1376=)
n.612-19459C>T
c.3774G>A (p.Val1258=)
c.3417G>A (p.Val1139=)
 gnomAD v4 COSMIC COSMIC
2g.166228737A=CA1304943612SCN1A-AS1,SCN9Ac.4160T= (p.Val1387=)
c.4004T= (p.Val1335=)
c.4127T= (p.Val1376=)
n.612-19458A=
c.3773T= (p.Val1258=)
c.3416T= (p.Val1139=)
2g.166228737A>CCA349063373SCN1A-AS1,SCN9Ac.4160T>G (p.Val1387Gly)
c.4004T>G (p.Val1335Gly)
c.4127T>G (p.Val1376Gly)
n.612-19458A>C
c.3773T>G (p.Val1258Gly)
c.3416T>G (p.Val1139Gly)
2g.166228737A>GCA349063375SCN1A-AS1,SCN9Ac.4160T>C (p.Val1387Ala)
c.4004T>C (p.Val1335Ala)
c.4127T>C (p.Val1376Ala)
n.612-19458A>G
c.3773T>C (p.Val1258Ala)
c.3416T>C (p.Val1139Ala)
 ClinVar
2g.166228737A>TCA349063377SCN1A-AS1,SCN9Ac.4160T>A (p.Val1387Glu)
c.4004T>A (p.Val1335Glu)
c.4127T>A (p.Val1376Glu)
n.612-19458A>T
c.3773T>A (p.Val1258Glu)
c.3416T>A (p.Val1139Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.166228738C>ACA349063384SCN1A-AS1,SCN9Ac.4159G>T (p.Val1387Leu)
c.4003G>T (p.Val1335Leu)
c.4126G>T (p.Val1376Leu)
n.612-19457C>A
c.3772G>T (p.Val1258Leu)
c.3415G>T (p.Val1139Leu)
2g.166228738C>GCA349063382SCN1A-AS1,SCN9Ac.4159G>C (p.Val1387Leu)
c.4003G>C (p.Val1335Leu)
c.4126G>C (p.Val1376Leu)
n.612-19457C>G
c.3772G>C (p.Val1258Leu)
c.3415G>C (p.Val1139Leu)
2g.166228738C>TCA349063379SCN1A-AS1,SCN9Ac.4159G>A (p.Val1387Met)
c.4003G>A (p.Val1335Met)
c.4126G>A (p.Val1376Met)
n.612-19457C>T
c.3772G>A (p.Val1258Met)
c.3415G>A (p.Val1139Met)
2g.166228739T>ACA349063386SCN1A-AS1,SCN9Ac.4158A>T (p.Lys1386Asn)
c.4002A>T (p.Lys1334Asn)
c.4125A>T (p.Lys1375Asn)
n.612-19456T>A
c.3771A>T (p.Lys1257Asn)
c.3414A>T (p.Lys1138Asn)
2g.166228739T>CCA429899107SCN1A-AS1,SCN9Ac.4158A>G (p.Lys1386=)
c.4002A>G (p.Lys1334=)
c.4125A>G (p.Lys1375=)
n.612-19456T>C
c.3771A>G (p.Lys1257=)
c.3414A>G (p.Lys1138=)
2g.166228739T>GCA349063389SCN1A-AS1,SCN9Ac.4158A>C (p.Lys1386Asn)
c.4002A>C (p.Lys1334Asn)
c.4125A>C (p.Lys1375Asn)
n.612-19456T>G
c.3771A>C (p.Lys1257Asn)
c.3414A>C (p.Lys1138Asn)
2g.166228740T>ACA349063391SCN1A-AS1,SCN9Ac.4157A>T (p.Lys1386Ile)
c.4001A>T (p.Lys1334Ile)
c.4124A>T (p.Lys1375Ile)
n.612-19455T>A
c.3770A>T (p.Lys1257Ile)
c.3413A>T (p.Lys1138Ile)
2g.166228740T>CCA1943939SCN1A-AS1,SCN9Ac.4157A>G (p.Lys1386Arg)
c.4001A>G (p.Lys1334Arg)
c.4124A>G (p.Lys1375Arg)
n.612-19455T>C
c.3770A>G (p.Lys1257Arg)
c.3413A>G (p.Lys1138Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228740T>GCA349063395SCN1A-AS1,SCN9Ac.4157A>C (p.Lys1386Thr)
c.4001A>C (p.Lys1334Thr)
c.4124A>C (p.Lys1375Thr)
n.612-19455T>G
c.3770A>C (p.Lys1257Thr)
c.3413A>C (p.Lys1138Thr)
2g.166228740T=CA1304943613SCN1A-AS1,SCN9Ac.4157A= (p.Lys1386=)
c.4001A= (p.Lys1334=)
c.4124A= (p.Lys1375=)
n.612-19455T=
c.3770A= (p.Lys1257=)
c.3413A= (p.Lys1138=)
2g.166228741T>ACA349063397SCN1A-AS1,SCN9Ac.4156A>T (p.Lys1386Ter)
c.4000A>T (p.Lys1334Ter)
c.4123A>T (p.Lys1375Ter)
n.612-19454T>A
c.3769A>T (p.Lys1257Ter)
c.3412A>T (p.Lys1138Ter)
 dbSNP
2g.166228741T>CCA349063400SCN1A-AS1,SCN9Ac.4156A>G (p.Lys1386Glu)
c.4000A>G (p.Lys1334Glu)
c.4123A>G (p.Lys1375Glu)
n.612-19454T>C
c.3769A>G (p.Lys1257Glu)
c.3412A>G (p.Lys1138Glu)
 ClinVar gnomAD v4
2g.166228741T>GCA1943940SCN1A-AS1,SCN9Ac.4156A>C (p.Lys1386Gln)
c.4000A>C (p.Lys1334Gln)
c.4123A>C (p.Lys1375Gln)
n.612-19454T>G
c.3769A>C (p.Lys1257Gln)
c.3412A>C (p.Lys1138Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228741T=CA1304943614SCN1A-AS1,SCN9Ac.4156A= (p.Lys1386=)
c.4000A= (p.Lys1334=)
c.4123A= (p.Lys1375=)
n.612-19454T=
c.3769A= (p.Lys1257=)
c.3412A= (p.Lys1138=)
2g.166228742C>ACA429899113SCN1A-AS1,SCN9Ac.4155G>T (p.Leu1385=)
c.3999G>T (p.Leu1333=)
c.4122G>T (p.Leu1374=)
n.612-19453C>A
c.3768G>T (p.Leu1256=)
c.3411G>T (p.Leu1137=)
2g.166228742C=CA1304943615SCN1A-AS1,SCN9Ac.4155G= (p.Leu1385=)
c.3999G= (p.Leu1333=)
c.4122G= (p.Leu1374=)
n.612-19453C=
c.3768G= (p.Leu1256=)
c.3411G= (p.Leu1137=)
2g.166228742C>GCA429899111SCN1A-AS1,SCN9Ac.4155G>C (p.Leu1385=)
c.3999G>C (p.Leu1333=)
c.4122G>C (p.Leu1374=)
n.612-19453C>G
c.3768G>C (p.Leu1256=)
c.3411G>C (p.Leu1137=)
2g.166228742C>TCA429899112SCN1A-AS1,SCN9Ac.4155G>A (p.Leu1385=)
c.3999G>A (p.Leu1333=)
c.4122G>A (p.Leu1374=)
n.612-19453C>T
c.3768G>A (p.Leu1256=)
c.3411G>A (p.Leu1137=)
 ClinVar dbSNP gnomAD v4
2g.166228744_166228758delCA2586970372SCN1A-AS1,SCN9Ac.4141_4155del (p.Arg1381_Leu1385del)
c.3985_3999del (p.Arg1329_Leu1333del)
c.4108_4122del (p.Arg1370_Leu1374del)
n.612-19451_612-19437del
c.3754_3768del (p.Arg1252_Leu1256del)
c.3397_3411del (p.Arg1133_Leu1137del)
2g.166228743A>CCA349063404SCN1A-AS1,SCN9Ac.4154T>G (p.Leu1385Arg)
c.3998T>G (p.Leu1333Arg)
c.4121T>G (p.Leu1374Arg)
n.612-19452A>C
c.3767T>G (p.Leu1256Arg)
c.3410T>G (p.Leu1137Arg)
2g.166228743A>GCA349063405SCN1A-AS1,SCN9Ac.4154T>C (p.Leu1385Pro)
c.3998T>C (p.Leu1333Pro)
c.4121T>C (p.Leu1374Pro)
n.612-19452A>G
c.3767T>C (p.Leu1256Pro)
c.3410T>C (p.Leu1137Pro)
2g.166228743A>TCA349063407SCN1A-AS1,SCN9Ac.4154T>A (p.Leu1385Gln)
c.3998T>A (p.Leu1333Gln)
c.4121T>A (p.Leu1374Gln)
n.612-19452A>T
c.3767T>A (p.Leu1256Gln)
c.3410T>A (p.Leu1137Gln)
 COSMIC COSMIC
2g.166228744G>ACA429899114SCN1A-AS1,SCN9Ac.4153C>T (p.Leu1385=)
c.3997C>T (p.Leu1333=)
c.4120C>T (p.Leu1374=)
n.612-19451G>A
c.3766C>T (p.Leu1256=)
c.3409C>T (p.Leu1137=)
2g.166228744G>CCA349063409SCN1A-AS1,SCN9Ac.4153C>G (p.Leu1385Val)
c.3997C>G (p.Leu1333Val)
c.4120C>G (p.Leu1374Val)
n.612-19451G>C
c.3766C>G (p.Leu1256Val)
c.3409C>G (p.Leu1137Val)
2g.166228744G>TCA349063411SCN1A-AS1,SCN9Ac.4153C>A (p.Leu1385Met)
c.3997C>A (p.Leu1333Met)
c.4120C>A (p.Leu1374Met)
n.612-19451G>T
c.3766C>A (p.Leu1256Met)
c.3409C>A (p.Leu1137Met)
2g.166228745G>ACA429899115SCN1A-AS1,SCN9Ac.4152C>T (p.Asn1384=)
c.3996C>T (p.Asn1332=)
c.4119C>T (p.Asn1373=)
n.612-19450G>A
c.3765C>T (p.Asn1255=)
c.3408C>T (p.Asn1136=)
 COSMIC COSMIC
2g.166228745G>CCA349063413SCN1A-AS1,SCN9Ac.4152C>G (p.Asn1384Lys)
c.3996C>G (p.Asn1332Lys)
c.4119C>G (p.Asn1373Lys)
n.612-19450G>C
c.3765C>G (p.Asn1255Lys)
c.3408C>G (p.Asn1136Lys)
2g.166228745G>TCA349063415SCN1A-AS1,SCN9Ac.4152C>A (p.Asn1384Lys)
c.3996C>A (p.Asn1332Lys)
c.4119C>A (p.Asn1373Lys)
n.612-19450G>T
c.3765C>A (p.Asn1255Lys)
c.3408C>A (p.Asn1136Lys)
2g.166228746T>ACA349063417SCN1A-AS1,SCN9Ac.4151A>T (p.Asn1384Ile)
c.3995A>T (p.Asn1332Ile)
c.4118A>T (p.Asn1373Ile)
n.612-19449T>A
c.3764A>T (p.Asn1255Ile)
c.3407A>T (p.Asn1136Ile)
2g.166228746T>CCA349063419SCN1A-AS1,SCN9Ac.4151A>G (p.Asn1384Ser)
c.3995A>G (p.Asn1332Ser)
c.4118A>G (p.Asn1373Ser)
n.612-19449T>C
c.3764A>G (p.Asn1255Ser)
c.3407A>G (p.Asn1136Ser)
2g.166228746T>GCA349063422SCN1A-AS1,SCN9Ac.4151A>C (p.Asn1384Thr)
c.3995A>C (p.Asn1332Thr)
c.4118A>C (p.Asn1373Thr)
n.612-19449T>G
c.3764A>C (p.Asn1255Thr)
c.3407A>C (p.Asn1136Thr)
2g.166228747T>ACA349063424SCN1A-AS1,SCN9Ac.4150A>T (p.Asn1384Tyr)
c.3994A>T (p.Asn1332Tyr)
c.4117A>T (p.Asn1373Tyr)
n.612-19448T>A
c.3763A>T (p.Asn1255Tyr)
c.3406A>T (p.Asn1136Tyr)
2g.166228747T>CCA349063425SCN1A-AS1,SCN9Ac.4150A>G (p.Asn1384Asp)
c.3994A>G (p.Asn1332Asp)
c.4117A>G (p.Asn1373Asp)
n.612-19448T>C
c.3763A>G (p.Asn1255Asp)
c.3406A>G (p.Asn1136Asp)
2g.166228747T>GCA349063426SCN1A-AS1,SCN9Ac.4150A>C (p.Asn1384His)
c.3994A>C (p.Asn1332His)
c.4117A>C (p.Asn1373His)
n.612-19448T>G
c.3763A>C (p.Asn1255His)
c.3406A>C (p.Asn1136His)
2g.166228748T>ACA349063427SCN1A-AS1,SCN9Ac.4149A>T (p.Lys1383Asn)
c.3993A>T (p.Lys1331Asn)
c.4116A>T (p.Lys1372Asn)
n.612-19447T>A
c.3762A>T (p.Lys1254Asn)
c.3405A>T (p.Lys1135Asn)
2g.166228748T>CCA429899119SCN1A-AS1,SCN9Ac.4149A>G (p.Lys1383=)
c.3993A>G (p.Lys1331=)
c.4116A>G (p.Lys1372=)
n.612-19447T>C
c.3762A>G (p.Lys1254=)
c.3405A>G (p.Lys1135=)
 dbSNP
2g.166228748T>GCA349063428SCN1A-AS1,SCN9Ac.4149A>C (p.Lys1383Asn)
c.3993A>C (p.Lys1331Asn)
c.4116A>C (p.Lys1372Asn)
n.612-19447T>G
c.3762A>C (p.Lys1254Asn)
c.3405A>C (p.Lys1135Asn)
2g.166228748T=CA1304943616SCN1A-AS1,SCN9Ac.4149A= (p.Lys1383=)
c.3993A= (p.Lys1331=)
c.4116A= (p.Lys1372=)
n.612-19447T=
c.3762A= (p.Lys1254=)
c.3405A= (p.Lys1135=)
2g.166228749T>ACA349063429SCN1A-AS1,SCN9Ac.4148A>T (p.Lys1383Ile)
c.3992A>T (p.Lys1331Ile)
c.4115A>T (p.Lys1372Ile)
n.612-19446T>A
c.3761A>T (p.Lys1254Ile)
c.3404A>T (p.Lys1135Ile)
2g.166228749T>CCA209307SCN1A-AS1,SCN9Ac.4148A>G (p.Lys1383Arg)
c.3992A>G (p.Lys1331Arg)
c.4115A>G (p.Lys1372Arg)
n.612-19446T>C
c.3761A>G (p.Lys1254Arg)
c.3404A>G (p.Lys1135Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228749T>GCA349063430SCN1A-AS1,SCN9Ac.4148A>C (p.Lys1383Thr)
c.3992A>C (p.Lys1331Thr)
c.4115A>C (p.Lys1372Thr)
n.612-19446T>G
c.3761A>C (p.Lys1254Thr)
c.3404A>C (p.Lys1135Thr)
2g.166228749T=CA1304943617SCN1A-AS1,SCN9Ac.4148A= (p.Lys1383=)
c.3992A= (p.Lys1331=)
c.4115A= (p.Lys1372=)
n.612-19446T=
c.3761A= (p.Lys1254=)
c.3404A= (p.Lys1135=)
2g.166228750T>ACA349063432SCN1A-AS1,SCN9Ac.4147A>T (p.Lys1383Ter)
c.3991A>T (p.Lys1331Ter)
c.4114A>T (p.Lys1372Ter)
n.612-19445T>A
c.3760A>T (p.Lys1254Ter)
c.3403A>T (p.Lys1135Ter)
2g.166228750T>CCA1943941SCN1A-AS1,SCN9Ac.4147A>G (p.Lys1383Glu)
c.3991A>G (p.Lys1331Glu)
c.4114A>G (p.Lys1372Glu)
n.612-19445T>C
c.3760A>G (p.Lys1254Glu)
c.3403A>G (p.Lys1135Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228750T>GCA349063431SCN1A-AS1,SCN9Ac.4147A>C (p.Lys1383Gln)
c.3991A>C (p.Lys1331Gln)
c.4114A>C (p.Lys1372Gln)
n.612-19445T>G
c.3760A>C (p.Lys1254Gln)
c.3403A>C (p.Lys1135Gln)
2g.166228750T=CA1304943618SCN1A-AS1,SCN9Ac.4147A= (p.Lys1383=)
c.3991A= (p.Lys1331=)
c.4114A= (p.Lys1372=)
n.612-19445T=
c.3760A= (p.Lys1254=)
c.3403A= (p.Lys1135=)
2g.166228751C>ACA349063433SCN1A-AS1,SCN9Ac.4146G>T (p.Trp1382Cys)
c.3990G>T (p.Trp1330Cys)
c.4113G>T (p.Trp1371Cys)
n.612-19444C>A
c.3759G>T (p.Trp1253Cys)
c.3402G>T (p.Trp1134Cys)
2g.166228751C=CA1304943619SCN1A-AS1,SCN9Ac.4146G= (p.Trp1382=)
c.3990G= (p.Trp1330=)
c.4113G= (p.Trp1371=)
n.612-19444C=
c.3759G= (p.Trp1253=)
c.3402G= (p.Trp1134=)
2g.166228751C>GCA349063435SCN1A-AS1,SCN9Ac.4146G>C (p.Trp1382Cys)
c.3990G>C (p.Trp1330Cys)
c.4113G>C (p.Trp1371Cys)
n.612-19444C>G
c.3759G>C (p.Trp1253Cys)
c.3402G>C (p.Trp1134Cys)
2g.166228751C>TCA349063434SCN1A-AS1,SCN9Ac.4146G>A (p.Trp1382Ter)
c.3990G>A (p.Trp1330Ter)
c.4113G>A (p.Trp1371Ter)
n.612-19444C>T
c.3759G>A (p.Trp1253Ter)
c.3402G>A (p.Trp1134Ter)
 dbSNP COSMIC COSMIC
2g.166228752C>ACA349063436SCN1A-AS1,SCN9Ac.4145G>T (p.Trp1382Leu)
c.3989G>T (p.Trp1330Leu)
c.4112G>T (p.Trp1371Leu)
n.612-19443C>A
c.3758G>T (p.Trp1253Leu)
c.3401G>T (p.Trp1134Leu)
2g.166228752C>GCA349063437SCN1A-AS1,SCN9Ac.4145G>C (p.Trp1382Ser)
c.3989G>C (p.Trp1330Ser)
c.4112G>C (p.Trp1371Ser)
n.612-19443C>G
c.3758G>C (p.Trp1253Ser)
c.3401G>C (p.Trp1134Ser)
2g.166228752C>TCA349063438SCN1A-AS1,SCN9Ac.4145G>A (p.Trp1382Ter)
c.3989G>A (p.Trp1330Ter)
c.4112G>A (p.Trp1371Ter)
n.612-19443C>T
c.3758G>A (p.Trp1253Ter)
c.3401G>A (p.Trp1134Ter)
2g.166228753A=CA1304943620SCN1A-AS1,SCN9Ac.4144T= (p.Trp1382=)
c.3988T= (p.Trp1330=)
c.4111T= (p.Trp1371=)
n.612-19442A=
c.3757T= (p.Trp1253=)
c.3400T= (p.Trp1134=)
2g.166228753A>CCA349063439SCN1A-AS1,SCN9Ac.4144T>G (p.Trp1382Gly)
c.3988T>G (p.Trp1330Gly)
c.4111T>G (p.Trp1371Gly)
n.612-19442A>C
c.3757T>G (p.Trp1253Gly)
c.3400T>G (p.Trp1134Gly)
2g.166228753A>GCA349063440SCN1A-AS1,SCN9Ac.4144T>C (p.Trp1382Arg)
c.3988T>C (p.Trp1330Arg)
c.4111T>C (p.Trp1371Arg)
n.612-19442A>G
c.3757T>C (p.Trp1253Arg)
c.3400T>C (p.Trp1134Arg)
 ClinVar gnomAD v4
2g.166228753A>TCA1943942SCN1A-AS1,SCN9Ac.4144T>A (p.Trp1382Arg)
c.3988T>A (p.Trp1330Arg)
c.4111T>A (p.Trp1371Arg)
n.612-19442A>T
c.3757T>A (p.Trp1253Arg)
c.3400T>A (p.Trp1134Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166228754T>ACA429899123SCN1A-AS1,SCN9Ac.4143A>T (p.Arg1381=)
c.3987A>T (p.Arg1329=)
c.4110A>T (p.Arg1370=)
n.612-19441T>A
c.3756A>T (p.Arg1252=)
c.3399A>T (p.Arg1133=)
 ClinVar dbSNP gnomAD v4
2g.166228754T>CCA59810250SCN1A-AS1,SCN9Ac.4143A>G (p.Arg1381=)
c.3987A>G (p.Arg1329=)
c.4110A>G (p.Arg1370=)
n.612-19441T>C
c.3756A>G (p.Arg1252=)
c.3399A>G (p.Arg1133=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228754T>GCA429899125SCN1A-AS1,SCN9Ac.4143A>C (p.Arg1381=)
c.3987A>C (p.Arg1329=)
c.4110A>C (p.Arg1370=)
n.612-19441T>G
c.3756A>C (p.Arg1252=)
c.3399A>C (p.Arg1133=)
2g.166228754T=CA1304943621SCN1A-AS1,SCN9Ac.4143A= (p.Arg1381=)
c.3987A= (p.Arg1329=)
c.4110A= (p.Arg1370=)
n.612-19441T=
c.3756A= (p.Arg1252=)
c.3399A= (p.Arg1133=)
2g.166228755C>ACA349063441SCN1A-AS1,SCN9Ac.4142G>T (p.Arg1381Leu)
c.3986G>T (p.Arg1329Leu)
c.4109G>T (p.Arg1370Leu)
n.612-19440C>A
c.3755G>T (p.Arg1252Leu)
c.3398G>T (p.Arg1133Leu)
2g.166228755C=CA1304943622SCN1A-AS1,SCN9Ac.4142G= (p.Arg1381=)
c.3986G= (p.Arg1329=)
c.4109G= (p.Arg1370=)
n.612-19440C=
c.3755G= (p.Arg1252=)
c.3398G= (p.Arg1133=)
2g.166228755C>GCA349063442SCN1A-AS1,SCN9Ac.4142G>C (p.Arg1381Pro)
c.3986G>C (p.Arg1329Pro)
c.4109G>C (p.Arg1370Pro)
n.612-19440C>G
c.3755G>C (p.Arg1252Pro)
c.3398G>C (p.Arg1133Pro)
2g.166228755C>TCA1943943SCN1A-AS1,SCN9Ac.4142G>A (p.Arg1381Gln)
c.3986G>A (p.Arg1329Gln)
c.4109G>A (p.Arg1370Gln)
n.612-19440C>T
c.3755G>A (p.Arg1252Gln)
c.3398G>A (p.Arg1133Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228756G>ACA1943944SCN1A-AS1,SCN9Ac.4141C>T (p.Arg1381Ter)
c.3985C>T (p.Arg1329Ter)
c.4108C>T (p.Arg1370Ter)
n.612-19439G>A
c.3754C>T (p.Arg1252Ter)
c.3397C>T (p.Arg1133Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166228756G>CCA349063443SCN1A-AS1,SCN9Ac.4141C>G (p.Arg1381Gly)
c.3985C>G (p.Arg1329Gly)
c.4108C>G (p.Arg1370Gly)
n.612-19439G>C
c.3754C>G (p.Arg1252Gly)
c.3397C>G (p.Arg1133Gly)
 gnomAD v4
2g.166228756G=CA1304943623SCN1A-AS1,SCN9Ac.4141C= (p.Arg1381=)
c.3985C= (p.Arg1329=)
c.4108C= (p.Arg1370=)
n.612-19439G=
c.3754C= (p.Arg1252=)
c.3397C= (p.Arg1133=)
2g.166228756G>TCA16603952SCN1A-AS1,SCN9Ac.4141C>A (p.Arg1381=)
c.3985C>A (p.Arg1329=)
c.4108C>A (p.Arg1370=)
n.612-19439G>T
c.3754C>A (p.Arg1252=)
c.3397C>A (p.Arg1133=)
 ClinVar dbSNP

Number of alleles fetched