Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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=)

Number of alleles fetched