Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166204339A>CCA2661764440SCN1A-AS1,SCN9Ac.4503+21T>G (n.4503+21T>G)
c.4347+21T>G (n.4347+21T>G)
c.4470+21T>G (n.4470+21T>G)
n.880+21T>G
n.611+4521A>C
c.4116+21T>G (n.4116+21T>G)
c.3759+21T>G (n.3759+21T>G)
 gnomAD v4
2g.166204340_166204344dupCA1943844SCN1A-AS1,SCN9Ac.4503+17_4503+21dup (n.4503+17_4503+21dup)
c.4347+17_4347+21dup (n.4347+17_4347+21dup)
c.4470+17_4470+21dup (n.4470+17_4470+21dup)
n.880+17_880+21dup
n.611+4522_611+4526dup
c.4116+17_4116+21dup (n.4116+17_4116+21dup)
c.3759+17_3759+21dup (n.3759+17_3759+21dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204341G>ACA760171993SCN1A-AS1,SCN9Ac.4503+19C>T (n.4503+19C>T)
c.4347+19C>T (n.4347+19C>T)
c.4470+19C>T (n.4470+19C>T)
n.880+19C>T
n.611+4523G>A
c.4116+19C>T (n.4116+19C>T)
c.3759+19C>T (n.3759+19C>T)
 dbSNP
2g.166204341G>CCA59789382SCN1A-AS1,SCN9Ac.4503+19C>G (n.4503+19C>G)
c.4347+19C>G (n.4347+19C>G)
c.4470+19C>G (n.4470+19C>G)
n.880+19C>G
n.611+4523G>C
c.4116+19C>G (n.4116+19C>G)
c.3759+19C>G (n.3759+19C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166204341G=CA1304932097SCN1A-AS1,SCN9Ac.4503+19C= (n.4503+19C=)
c.4347+19C= (n.4347+19C=)
c.4470+19C= (n.4470+19C=)
n.880+19C=
n.611+4523G=
c.4116+19C= (n.4116+19C=)
c.3759+19C= (n.3759+19C=)
2g.166204341G>TCA2661764441SCN1A-AS1,SCN9Ac.4503+19C>A (n.4503+19C>A)
c.4347+19C>A (n.4347+19C>A)
c.4470+19C>A (n.4470+19C>A)
n.880+19C>A
n.611+4523G>T
c.4116+19C>A (n.4116+19C>A)
c.3759+19C>A (n.3759+19C>A)
 gnomAD v4
2g.166204341_166204345delinsGATATCA1304932096SCN1A-AS1,SCN9Ac.4503+15_4503+19delinsATATC (n.4503+15_4503+19delinsATATC)
c.4347+15_4347+19delinsATATC (n.4347+15_4347+19delinsATATC)
c.4470+15_4470+19delinsATATC (n.4470+15_4470+19delinsATATC)
n.880+15_880+19delinsATATC
n.611+4523_611+4527delinsGATAT
c.4116+15_4116+19delinsATATC (n.4116+15_4116+19delinsATATC)
c.3759+15_3759+19delinsATATC (n.3759+15_3759+19delinsATATC)
2g.166204342A>GCA2580064319SCN1A-AS1,SCN9Ac.4503+18T>C (n.4503+18T>C)
c.4347+18T>C (n.4347+18T>C)
c.4470+18T>C (n.4470+18T>C)
n.880+18T>C
n.611+4524A>G
c.4116+18T>C (n.4116+18T>C)
c.3759+18T>C (n.3759+18T>C)
 ClinVar gnomAD v4
2g.166204350_166204351dupCA1943845SCN1A-AS1,SCN9Ac.4503+17_4503+18dup (n.4503+17_4503+18dup)
c.4347+17_4347+18dup (n.4347+17_4347+18dup)
c.4470+17_4470+18dup (n.4470+17_4470+18dup)
n.880+17_880+18dup
n.611+4532_611+4533dup
c.4116+17_4116+18dup (n.4116+17_4116+18dup)
c.3759+17_3759+18dup (n.3759+17_3759+18dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204350_166204351delCA1943846SCN1A-AS1,SCN9Ac.4503+17_4503+18del (n.4503+17_4503+18del)
c.4347+17_4347+18del (n.4347+17_4347+18del)
c.4470+17_4470+18del (n.4470+17_4470+18del)
n.880+17_880+18del
n.611+4532_611+4533del
c.4116+17_4116+18del (n.4116+17_4116+18del)
c.3759+17_3759+18del (n.3759+17_3759+18del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166204348_166204351delCA1304932098SCN1A-AS1,SCN9Ac.4503+15_4503+18del (n.4503+15_4503+18del)
c.4347+15_4347+18del (n.4347+15_4347+18del)
c.4470+15_4470+18del (n.4470+15_4470+18del)
n.880+15_880+18del
n.611+4530_611+4533del
c.4116+15_4116+18del (n.4116+15_4116+18del)
c.3759+15_3759+18del (n.3759+15_3759+18del)
 dbSNP
2g.166204345T>CCA537131993SCN1A-AS1,SCN9Ac.4503+15A>G (n.4503+15A>G)
c.4347+15A>G (n.4347+15A>G)
c.4470+15A>G (n.4470+15A>G)
n.880+15A>G
n.611+4527T>C
c.4116+15A>G (n.4116+15A>G)
c.3759+15A>G (n.3759+15A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166204345T=CA1304932099SCN1A-AS1,SCN9Ac.4503+15A= (n.4503+15A=)
c.4347+15A= (n.4347+15A=)
c.4470+15A= (n.4470+15A=)
n.880+15A=
n.611+4527T=
c.4116+15A= (n.4116+15A=)
c.3759+15A= (n.3759+15A=)
2g.166204346A=CA1304932100SCN1A-AS1,SCN9Ac.4503+14T= (n.4503+14T=)
c.4347+14T= (n.4347+14T=)
c.4470+14T= (n.4470+14T=)
n.880+14T=
n.611+4528A=
c.4116+14T= (n.4116+14T=)
c.3759+14T= (n.3759+14T=)
2g.166204346A>GCA59789403SCN1A-AS1,SCN9Ac.4503+14T>C (n.4503+14T>C)
c.4347+14T>C (n.4347+14T>C)
c.4470+14T>C (n.4470+14T>C)
n.880+14T>C
n.611+4528A>G
c.4116+14T>C (n.4116+14T>C)
c.3759+14T>C (n.3759+14T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166204347T>ACA59789414SCN1A-AS1,SCN9Ac.4503+13A>T (n.4503+13A>T)
c.4347+13A>T (n.4347+13A>T)
c.4470+13A>T (n.4470+13A>T)
n.880+13A>T
n.611+4529T>A
c.4116+13A>T (n.4116+13A>T)
c.3759+13A>T (n.3759+13A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.166204347T>CCA2661764442SCN1A-AS1,SCN9Ac.4503+13A>G (n.4503+13A>G)
c.4347+13A>G (n.4347+13A>G)
c.4470+13A>G (n.4470+13A>G)
n.880+13A>G
n.611+4529T>C
c.4116+13A>G (n.4116+13A>G)
c.3759+13A>G (n.3759+13A>G)
 gnomAD v4
2g.166204347T=CA1304932101SCN1A-AS1,SCN9Ac.4503+13A= (n.4503+13A=)
c.4347+13A= (n.4347+13A=)
c.4470+13A= (n.4470+13A=)
n.880+13A=
n.611+4529T=
c.4116+13A= (n.4116+13A=)
c.3759+13A= (n.3759+13A=)
2g.166204348A=CA1304932102SCN1A-AS1,SCN9Ac.4503+12T= (n.4503+12T=)
c.4347+12T= (n.4347+12T=)
c.4470+12T= (n.4470+12T=)
n.880+12T=
n.611+4530A=
c.4116+12T= (n.4116+12T=)
c.3759+12T= (n.3759+12T=)
2g.166204349T>CCA760172006SCN1A-AS1,SCN9Ac.4503+11A>G (n.4503+11A>G)
c.4347+11A>G (n.4347+11A>G)
c.4470+11A>G (n.4470+11A>G)
n.880+11A>G
n.611+4531T>C
c.4116+11A>G (n.4116+11A>G)
c.3759+11A>G (n.3759+11A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.166204349T=CA1304932104SCN1A-AS1,SCN9Ac.4503+11A= (n.4503+11A=)
c.4347+11A= (n.4347+11A=)
c.4470+11A= (n.4470+11A=)
n.880+11A=
n.611+4531T=
c.4116+11A= (n.4116+11A=)
c.3759+11A= (n.3759+11A=)
2g.166204349_166204350delinsTACA1304932103SCN1A-AS1,SCN9Ac.4503+10_4503+11delinsTA (n.4503+10_4503+11delinsTA)
c.4347+10_4347+11delinsTA (n.4347+10_4347+11delinsTA)
c.4470+10_4470+11delinsTA (n.4470+10_4470+11delinsTA)
n.880+10_880+11delinsTA
n.611+4531_611+4532delinsTA
c.4116+10_4116+11delinsTA (n.4116+10_4116+11delinsTA)
c.3759+10_3759+11delinsTA (n.3759+10_3759+11delinsTA)
2g.166204350_166204353dupCA760172007SCN1A-AS1,SCN9Ac.4503+8_4503+11dup (n.4503+8_4503+11dup)
c.4347+8_4347+11dup (n.4347+8_4347+11dup)
c.4470+8_4470+11dup (n.4470+8_4470+11dup)
n.880+8_880+11dup
n.611+4532_611+4535dup
c.4116+8_4116+11dup (n.4116+8_4116+11dup)
c.3759+8_3759+11dup (n.3759+8_3759+11dup)
 dbSNP gnomAD v3 gnomAD v4
2g.166204350delCA537131994SCN1A-AS1,SCN9Ac.4503+10del (n.4503+10del)
c.4347+10del (n.4347+10del)
c.4470+10del (n.4470+10del)
n.880+10del
n.611+4532del
c.4116+10del (n.4116+10del)
c.3759+10del (n.3759+10del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166204350A=CA1304932106SCN1A-AS1,SCN9Ac.4503+10T= (n.4503+10T=)
c.4347+10T= (n.4347+10T=)
c.4470+10T= (n.4470+10T=)
n.880+10T=
n.611+4532A=
c.4116+10T= (n.4116+10T=)
c.3759+10T= (n.3759+10T=)
2g.166204350A>TCA537131995SCN1A-AS1,SCN9Ac.4503+10T>A (n.4503+10T>A)
c.4347+10T>A (n.4347+10T>A)
c.4470+10T>A (n.4470+10T>A)
n.880+10T>A
n.611+4532A>T
c.4116+10T>A (n.4116+10T>A)
c.3759+10T>A (n.3759+10T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166204350_166204351delinsATCA1304932105SCN1A-AS1,SCN9Ac.4503+9_4503+10delinsAT (n.4503+9_4503+10delinsAT)
c.4347+9_4347+10delinsAT (n.4347+9_4347+10delinsAT)
c.4470+9_4470+10delinsAT (n.4470+9_4470+10delinsAT)
n.880+9_880+10delinsAT
n.611+4532_611+4533delinsAT
c.4116+9_4116+10delinsAT (n.4116+9_4116+10delinsAT)
c.3759+9_3759+10delinsAT (n.3759+9_3759+10delinsAT)
2g.166204351T=CA1304932107SCN1A-AS1,SCN9Ac.4503+9A= (n.4503+9A=)
c.4347+9A= (n.4347+9A=)
c.4470+9A= (n.4470+9A=)
n.880+9A=
n.611+4533T=
c.4116+9A= (n.4116+9A=)
c.3759+9A= (n.3759+9A=)
2g.166204357dupCA1943847SCN1A-AS1,SCN9Ac.4503+9dup (n.4503+9dup)
c.4347+9dup (n.4347+9dup)
c.4470+9dup (n.4470+9dup)
n.880+9dup
n.611+4539dup
c.4116+9dup (n.4116+9dup)
c.3759+9dup (n.3759+9dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204357delCA537131996SCN1A-AS1,SCN9Ac.4503+9del (n.4503+9del)
c.4347+9del (n.4347+9del)
c.4470+9del (n.4470+9del)
n.880+9del
n.611+4539del
c.4116+9del (n.4116+9del)
c.3759+9del (n.3759+9del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166204351_166204352insACA1943848SCN1A-AS1,SCN9Ac.4503+8_4503+9insT (n.4503+8_4503+9insT)
c.4347+8_4347+9insT (n.4347+8_4347+9insT)
c.4470+8_4470+9insT (n.4470+8_4470+9insT)
n.880+8_880+9insT
n.611+4533_611+4534insA
c.4116+8_4116+9insT (n.4116+8_4116+9insT)
c.3759+8_3759+9insT (n.3759+8_3759+9insT)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204351_166204352insCTTTAGCATATAGACA2558824879SCN1A-AS1,SCN9Ac.4503+8_4503+9insTCTATATGCTAAAG (n.4503+8_4503+9insTCTATATGCTAAAG)
c.4347+8_4347+9insTCTATATGCTAAAG (n.4347+8_4347+9insTCTATATGCTAAAG)
c.4470+8_4470+9insTCTATATGCTAAAG (n.4470+8_4470+9insTCTATATGCTAAAG)
n.880+8_880+9insTCTATATGCTAAAG
n.611+4533_611+4534insCTTTAGCATATAGA
c.4116+8_4116+9insTCTATATGCTAAAG (n.4116+8_4116+9insTCTATATGCTAAAG)
c.3759+8_3759+9insTCTATATGCTAAAG (n.3759+8_3759+9insTCTATATGCTAAAG)
2g.166204352T>ACA59789440SCN1A-AS1,SCN9Ac.4503+8A>T (n.4503+8A>T)
c.4347+8A>T (n.4347+8A>T)
c.4470+8A>T (n.4470+8A>T)
n.880+8A>T
n.611+4534T>A
c.4116+8A>T (n.4116+8A>T)
c.3759+8A>T (n.3759+8A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166204352T>CCA1943849SCN1A-AS1,SCN9Ac.4503+8A>G (n.4503+8A>G)
c.4347+8A>G (n.4347+8A>G)
c.4470+8A>G (n.4470+8A>G)
n.880+8A>G
n.611+4534T>C
c.4116+8A>G (n.4116+8A>G)
c.3759+8A>G (n.3759+8A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166204352T=CA1304932108SCN1A-AS1,SCN9Ac.4503+8A= (n.4503+8A=)
c.4347+8A= (n.4347+8A=)
c.4470+8A= (n.4470+8A=)
n.880+8A=
n.611+4534T=
c.4116+8A= (n.4116+8A=)
c.3759+8A= (n.3759+8A=)
2g.166204354T>CCA59789449SCN1A-AS1,SCN9Ac.4503+6A>G (n.4503+6A>G)
c.4347+6A>G (n.4347+6A>G)
c.4470+6A>G (n.4470+6A>G)
n.880+6A>G
n.611+4536T>C
c.4116+6A>G (n.4116+6A>G)
c.3759+6A>G (n.3759+6A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.166204354T=CA1304932109SCN1A-AS1,SCN9Ac.4503+6A= (n.4503+6A=)
c.4347+6A= (n.4347+6A=)
c.4470+6A= (n.4470+6A=)
n.880+6A=
n.611+4536T=
c.4116+6A= (n.4116+6A=)
c.3759+6A= (n.3759+6A=)
2g.166204355T>CCA1943850SCN1A-AS1,SCN9Ac.4503+5A>G (n.4503+5A>G)
c.4347+5A>G (n.4347+5A>G)
c.4470+5A>G (n.4470+5A>G)
n.880+5A>G
n.611+4537T>C
c.4116+5A>G (n.4116+5A>G)
c.3759+5A>G (n.3759+5A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204355T=CA1304932110SCN1A-AS1,SCN9Ac.4503+5A= (n.4503+5A=)
c.4347+5A= (n.4347+5A=)
c.4470+5A= (n.4470+5A=)
n.880+5A=
n.611+4537T=
c.4116+5A= (n.4116+5A=)
c.3759+5A= (n.3759+5A=)
2g.166204355_166204356insCAAACA2569762603SCN1A-AS1,SCN9Ac.4503+4_4503+5insTTTG (n.4503+4_4503+5insTTTG)
c.4347+4_4347+5insTTTG (n.4347+4_4347+5insTTTG)
c.4470+4_4470+5insTTTG (n.4470+4_4470+5insTTTG)
n.880+4_880+5insTTTG
n.611+4537_611+4538insCAAA
c.4116+4_4116+5insTTTG (n.4116+4_4116+5insTTTG)
c.3759+4_3759+5insTTTG (n.3759+4_3759+5insTTTG)
2g.166204356T>CCA2661764443SCN1A-AS1,SCN9Ac.4503+4A>G (n.4503+4A>G)
c.4347+4A>G (n.4347+4A>G)
c.4470+4A>G (n.4470+4A>G)
n.880+4A>G
n.611+4538T>C
c.4116+4A>G (n.4116+4A>G)
c.3759+4A>G (n.3759+4A>G)
 gnomAD v4
2g.166204357T>ACA2661764444SCN1A-AS1,SCN9Ac.4503+3A>T (n.4503+3A>T)
c.4347+3A>T (n.4347+3A>T)
c.4470+3A>T (n.4470+3A>T)
n.880+3A>T
n.611+4539T>A
c.4116+3A>T (n.4116+3A>T)
c.3759+3A>T (n.3759+3A>T)
 gnomAD v4
2g.166204358A=CA1304932111SCN1A-AS1,SCN9Ac.4503+2T= (n.4503+2T=)
c.4347+2T= (n.4347+2T=)
c.4470+2T= (n.4470+2T=)
n.880+2T=
n.611+4540A=
c.4116+2T= (n.4116+2T=)
c.3759+2T= (n.3759+2T=)
2g.166204358A>CCA349058114SCN1A-AS1,SCN9Ac.4503+2T>G (n.4503+2T>G)
c.4347+2T>G (n.4347+2T>G)
c.4470+2T>G (n.4470+2T>G)
n.880+2T>G
n.611+4540A>C
c.4116+2T>G (n.4116+2T>G)
c.3759+2T>G (n.3759+2T>G)
2g.166204358A>GCA1943851SCN1A-AS1,SCN9Ac.4503+2T>C (n.4503+2T>C)
c.4347+2T>C (n.4347+2T>C)
c.4470+2T>C (n.4470+2T>C)
n.880+2T>C
n.611+4540A>G
c.4116+2T>C (n.4116+2T>C)
c.3759+2T>C (n.3759+2T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204358A>TCA349058115SCN1A-AS1,SCN9Ac.4503+2T>A (n.4503+2T>A)
c.4347+2T>A (n.4347+2T>A)
c.4470+2T>A (n.4470+2T>A)
n.880+2T>A
n.611+4540A>T
c.4116+2T>A (n.4116+2T>A)
c.3759+2T>A (n.3759+2T>A)
2g.166204358_166204359insTTTCA2552335648SCN1A-AS1,SCN9Ac.4503+1_4503+2insAAA (n.4503+1_4503+2insAAA)
c.4347+1_4347+2insAAA (n.4347+1_4347+2insAAA)
c.4470+1_4470+2insAAA (n.4470+1_4470+2insAAA)
n.880+1_880+2insAAA
n.611+4540_611+4541insTTT
c.4116+1_4116+2insAAA (n.4116+1_4116+2insAAA)
c.3759+1_3759+2insAAA (n.3759+1_3759+2insAAA)
2g.166204359C>ACA1943852SCN1A-AS1,SCN9Ac.4503+1G>T (n.4503+1G>T)
c.4347+1G>T (n.4347+1G>T)
c.4470+1G>T (n.4470+1G>T)
n.880+1G>T
n.611+4541C>A
c.4116+1G>T (n.4116+1G>T)
c.3759+1G>T (n.3759+1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166204359C=CA1304932112SCN1A-AS1,SCN9Ac.4503+1G= (n.4503+1G=)
c.4347+1G= (n.4347+1G=)
c.4470+1G= (n.4470+1G=)
n.880+1G=
n.611+4541C=
c.4116+1G= (n.4116+1G=)
c.3759+1G= (n.3759+1G=)
2g.166204359C>GCA349058116SCN1A-AS1,SCN9Ac.4503+1G>C (n.4503+1G>C)
c.4347+1G>C (n.4347+1G>C)
c.4470+1G>C (n.4470+1G>C)
n.880+1G>C
n.611+4541C>G
c.4116+1G>C (n.4116+1G>C)
c.3759+1G>C (n.3759+1G>C)
2g.166204359C>TCA349058117SCN1A-AS1,SCN9Ac.4503+1G>A (n.4503+1G>A)
c.4347+1G>A (n.4347+1G>A)
c.4470+1G>A (n.4470+1G>A)
n.880+1G>A
n.611+4541C>T
c.4116+1G>A (n.4116+1G>A)
c.3759+1G>A (n.3759+1G>A)
 ClinVar dbSNP gnomAD v4
2g.166204360C>ACA429893516SCN1A-AS1,SCN9Ac.4503G>T (p.Gly1501=)
c.4347G>T (p.Gly1449=)
c.4470G>T (p.Gly1490=)
n.880G>T
n.611+4542C>A
c.4116G>T (p.Gly1372=)
c.3759G>T (p.Gly1253=)
 gnomAD v4
2g.166204360C>GCA429893517SCN1A-AS1,SCN9Ac.4503G>C (p.Gly1501=)
c.4347G>C (p.Gly1449=)
c.4470G>C (p.Gly1490=)
n.880G>C
n.611+4542C>G
c.4116G>C (p.Gly1372=)
c.3759G>C (p.Gly1253=)
 ClinVar dbSNP
2g.166204360C>TCA429893518SCN1A-AS1,SCN9Ac.4503G>A (p.Gly1501=)
c.4347G>A (p.Gly1449=)
c.4470G>A (p.Gly1490=)
n.880G>A
n.611+4542C>T
c.4116G>A (p.Gly1372=)
c.3759G>A (p.Gly1253=)
2g.166204361C>ACA349058118SCN1A-AS1,SCN9Ac.4502G>T (p.Gly1501Val)
c.4346G>T (p.Gly1449Val)
c.4469G>T (p.Gly1490Val)
n.879G>T
n.611+4543C>A
c.4115G>T (p.Gly1372Val)
c.3758G>T (p.Gly1253Val)
2g.166204361C=CA1304932113SCN1A-AS1,SCN9Ac.4502G= (p.Gly1501=)
c.4346G= (p.Gly1449=)
c.4469G= (p.Gly1490=)
n.879G=
n.611+4543C=
c.4115G= (p.Gly1372=)
c.3758G= (p.Gly1253=)
2g.166204361C>GCA349058119SCN1A-AS1,SCN9Ac.4502G>C (p.Gly1501Ala)
c.4346G>C (p.Gly1449Ala)
c.4469G>C (p.Gly1490Ala)
n.879G>C
n.611+4543C>G
c.4115G>C (p.Gly1372Ala)
c.3758G>C (p.Gly1253Ala)
 COSMIC COSMIC
2g.166204361C>TCA59789462SCN1A-AS1,SCN9Ac.4502G>A (p.Gly1501Glu)
c.4346G>A (p.Gly1449Glu)
c.4469G>A (p.Gly1490Glu)
n.879G>A
n.611+4543C>T
c.4115G>A (p.Gly1372Glu)
c.3758G>A (p.Gly1253Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166204362C>ACA349058122SCN1A-AS1,SCN9Ac.4501G>T (p.Gly1501Trp)
c.4345G>T (p.Gly1449Trp)
c.4468G>T (p.Gly1490Trp)
n.878G>T
n.611+4544C>A
c.4114G>T (p.Gly1372Trp)
c.3757G>T (p.Gly1253Trp)
2g.166204362C>GCA349058121SCN1A-AS1,SCN9Ac.4501G>C (p.Gly1501Arg)
c.4345G>C (p.Gly1449Arg)
c.4468G>C (p.Gly1490Arg)
n.878G>C
n.611+4544C>G
c.4114G>C (p.Gly1372Arg)
c.3757G>C (p.Gly1253Arg)
 gnomAD v4
2g.166204362C>TCA349058120SCN1A-AS1,SCN9Ac.4501G>A (p.Gly1501Arg)
c.4345G>A (p.Gly1449Arg)
c.4468G>A (p.Gly1490Arg)
n.878G>A
n.611+4544C>T
c.4114G>A (p.Gly1372Arg)
c.3757G>A (p.Gly1253Arg)
2g.166204362_166204363delinsCTCA1304932114SCN1A-AS1,SCN9Ac.4500_4501delinsAG (p.Pro1500=)
c.4344_4345delinsAG (p.Pro1448=)
c.4467_4468delinsAG (p.Pro1489=)
n.877_878delinsAG
n.611+4544_611+4545delinsCT
c.4113_4114delinsAG (p.Pro1371=)
c.3756_3757delinsAG (p.Pro1252=)
2g.166204363delCA1139657334SCN1A-AS1,SCN9Ac.4500del (p.Asn1502ThrfsTer10)
c.4344del (p.Asn1450ThrfsTer10)
c.4467del (p.Asn1491ThrfsTer10)
n.877del
n.611+4545del
c.4500del (p.Val1502TyrfsTer5)
c.4113del (p.Asn1373ThrfsTer10)
c.3756del (p.Asn1254ThrfsTer10)
 ClinVar dbSNP gnomAD v4
2g.166204363T>ACA429893519SCN1A-AS1,SCN9Ac.4500A>T (p.Pro1500=)
c.4344A>T (p.Pro1448=)
c.4467A>T (p.Pro1489=)
n.877A>T
n.611+4545T>A
c.4113A>T (p.Pro1371=)
c.3756A>T (p.Pro1252=)
2g.166204363T>CCA1943853SCN1A-AS1,SCN9Ac.4500A>G (p.Pro1500=)
c.4344A>G (p.Pro1448=)
c.4467A>G (p.Pro1489=)
n.877A>G
n.611+4545T>C
c.4113A>G (p.Pro1371=)
c.3756A>G (p.Pro1252=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204363T>GCA429893520SCN1A-AS1,SCN9Ac.4500A>C (p.Pro1500=)
c.4344A>C (p.Pro1448=)
c.4467A>C (p.Pro1489=)
n.877A>C
n.611+4545T>G
c.4113A>C (p.Pro1371=)
c.3756A>C (p.Pro1252=)
2g.166204363T=CA1304932115SCN1A-AS1,SCN9Ac.4500A= (p.Pro1500=)
c.4344A= (p.Pro1448=)
c.4467A= (p.Pro1489=)
n.877A=
n.611+4545T=
c.4113A= (p.Pro1371=)
c.3756A= (p.Pro1252=)
2g.166204364G>ACA349058123SCN1A-AS1,SCN9Ac.4499C>T (p.Pro1500Leu)
c.4343C>T (p.Pro1448Leu)
c.4466C>T (p.Pro1489Leu)
n.876C>T
n.611+4546G>A
c.4112C>T (p.Pro1371Leu)
c.3755C>T (p.Pro1252Leu)
 dbSNP
2g.166204364G>CCA349058124SCN1A-AS1,SCN9Ac.4499C>G (p.Pro1500Arg)
c.4343C>G (p.Pro1448Arg)
c.4466C>G (p.Pro1489Arg)
n.876C>G
n.611+4546G>C
c.4112C>G (p.Pro1371Arg)
c.3755C>G (p.Pro1252Arg)
2g.166204364G=CA1304932116SCN1A-AS1,SCN9Ac.4499C= (p.Pro1500=)
c.4343C= (p.Pro1448=)
c.4466C= (p.Pro1489=)
n.876C=
n.611+4546G=
c.4112C= (p.Pro1371=)
c.3755C= (p.Pro1252=)
2g.166204364G>TCA349058125SCN1A-AS1,SCN9Ac.4499C>A (p.Pro1500Gln)
c.4343C>A (p.Pro1448Gln)
c.4466C>A (p.Pro1489Gln)
n.876C>A
n.611+4546G>T
c.4112C>A (p.Pro1371Gln)
c.3755C>A (p.Pro1252Gln)
 ClinVar dbSNP
2g.166204365G>ACA349058126SCN1A-AS1,SCN9Ac.4498C>T (p.Pro1500Ser)
c.4342C>T (p.Pro1448Ser)
c.4465C>T (p.Pro1489Ser)
n.875C>T
n.611+4547G>A
c.4111C>T (p.Pro1371Ser)
c.3754C>T (p.Pro1252Ser)
 dbSNP gnomAD v4
2g.166204365G>CCA349058127SCN1A-AS1,SCN9Ac.4498C>G (p.Pro1500Ala)
c.4342C>G (p.Pro1448Ala)
c.4465C>G (p.Pro1489Ala)
n.875C>G
n.611+4547G>C
c.4111C>G (p.Pro1371Ala)
c.3754C>G (p.Pro1252Ala)
2g.166204365G=CA1304932117SCN1A-AS1,SCN9Ac.4498C= (p.Pro1500=)
c.4342C= (p.Pro1448=)
c.4465C= (p.Pro1489=)
n.875C=
n.611+4547G=
c.4111C= (p.Pro1371=)
c.3754C= (p.Pro1252=)
2g.166204365G>TCA59789479SCN1A-AS1,SCN9Ac.4498C>A (p.Pro1500Thr)
c.4342C>A (p.Pro1448Thr)
c.4465C>A (p.Pro1489Thr)
n.875C>A
n.611+4547G>T
c.4111C>A (p.Pro1371Thr)
c.3754C>A (p.Pro1252Thr)
 dbSNP
2g.166204366T>ACA429893523SCN1A-AS1,SCN9Ac.4497A>T (p.Arg1499=)
c.4341A>T (p.Arg1447=)
c.4464A>T (p.Arg1488=)
n.874A>T
n.611+4548T>A
c.4110A>T (p.Arg1370=)
c.3753A>T (p.Arg1251=)
2g.166204366T>CCA429893522SCN1A-AS1,SCN9Ac.4497A>G (p.Arg1499=)
c.4341A>G (p.Arg1447=)
c.4464A>G (p.Arg1488=)
n.874A>G
n.611+4548T>C
c.4110A>G (p.Arg1370=)
c.3753A>G (p.Arg1251=)
2g.166204366T>GCA429893521SCN1A-AS1,SCN9Ac.4497A>C (p.Arg1499=)
c.4341A>C (p.Arg1447=)
c.4464A>C (p.Arg1488=)
n.874A>C
n.611+4548T>G
c.4110A>C (p.Arg1370=)
c.3753A>C (p.Arg1251=)
2g.166204367C>ACA349058128SCN1A-AS1,SCN9Ac.4496G>T (p.Arg1499Leu)
c.4340G>T (p.Arg1447Leu)
c.4463G>T (p.Arg1488Leu)
n.873G>T
n.611+4549C>A
c.4109G>T (p.Arg1370Leu)
c.3752G>T (p.Arg1251Leu)
 ClinVar gnomAD v4 COSMIC COSMIC
2g.166204367C=CA1304932118SCN1A-AS1,SCN9Ac.4496G= (p.Arg1499=)
c.4340G= (p.Arg1447=)
c.4463G= (p.Arg1488=)
n.873G=
n.611+4549C=
c.4109G= (p.Arg1370=)
c.3752G= (p.Arg1251=)
2g.166204367C>GCA349058129SCN1A-AS1,SCN9Ac.4496G>C (p.Arg1499Pro)
c.4340G>C (p.Arg1447Pro)
c.4463G>C (p.Arg1488Pro)
n.873G>C
n.611+4549C>G
c.4109G>C (p.Arg1370Pro)
c.3752G>C (p.Arg1251Pro)
2g.166204367C>TCA1943854SCN1A-AS1,SCN9Ac.4496G>A (p.Arg1499Gln)
c.4340G>A (p.Arg1447Gln)
c.4463G>A (p.Arg1488Gln)
n.873G>A
n.611+4549C>T
c.4109G>A (p.Arg1370Gln)
c.3752G>A (p.Arg1251Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204368G>ACA1943855SCN1A-AS1,SCN9Ac.4495C>T (p.Arg1499Ter)
c.4339C>T (p.Arg1447Ter)
c.4462C>T (p.Arg1488Ter)
n.872C>T
n.611+4550G>A
c.4108C>T (p.Arg1370Ter)
c.3751C>T (p.Arg1251Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204368G>CCA349058130SCN1A-AS1,SCN9Ac.4495C>G (p.Arg1499Gly)
c.4339C>G (p.Arg1447Gly)
c.4462C>G (p.Arg1488Gly)
n.872C>G
n.611+4550G>C
c.4108C>G (p.Arg1370Gly)
c.3751C>G (p.Arg1251Gly)
2g.166204368G=CA1304932119SCN1A-AS1,SCN9Ac.4495C= (p.Arg1499=)
c.4339C= (p.Arg1447=)
c.4462C= (p.Arg1488=)
n.872C=
n.611+4550G=
c.4108C= (p.Arg1370=)
c.3751C= (p.Arg1251=)
2g.166204368G>TCA1943856SCN1A-AS1,SCN9Ac.4495C>A (p.Arg1499=)
c.4339C>A (p.Arg1447=)
c.4462C>A (p.Arg1488=)
n.872C>A
n.611+4550G>T
c.4108C>A (p.Arg1370=)
c.3751C>A (p.Arg1251=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204369A>CCA429893524SCN1A-AS1,SCN9Ac.4494T>G (p.Pro1498=)
c.4338T>G (p.Pro1446=)
c.4461T>G (p.Pro1487=)
n.871T>G
n.611+4551A>C
c.4107T>G (p.Pro1369=)
c.3750T>G (p.Pro1250=)
2g.166204369A>GCA429893525SCN1A-AS1,SCN9Ac.4494T>C (p.Pro1498=)
c.4338T>C (p.Pro1446=)
c.4461T>C (p.Pro1487=)
n.871T>C
n.611+4551A>G
c.4107T>C (p.Pro1369=)
c.3750T>C (p.Pro1250=)
2g.166204369A>TCA429893526SCN1A-AS1,SCN9Ac.4494T>A (p.Pro1498=)
c.4338T>A (p.Pro1446=)
c.4461T>A (p.Pro1487=)
n.871T>A
n.611+4551A>T
c.4107T>A (p.Pro1369=)
c.3750T>A (p.Pro1250=)
2g.166204370G>ACA1943857SCN1A-AS1,SCN9Ac.4493C>T (p.Pro1498Leu)
c.4337C>T (p.Pro1446Leu)
c.4460C>T (p.Pro1487Leu)
n.870C>T
n.611+4552G>A
c.4106C>T (p.Pro1369Leu)
c.3749C>T (p.Pro1250Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204370G>CCA349058132SCN1A-AS1,SCN9Ac.4493C>G (p.Pro1498Arg)
c.4337C>G (p.Pro1446Arg)
c.4460C>G (p.Pro1487Arg)
n.870C>G
n.611+4552G>C
c.4106C>G (p.Pro1369Arg)
c.3749C>G (p.Pro1250Arg)
2g.166204370G=CA1304932120SCN1A-AS1,SCN9Ac.4493C= (p.Pro1498=)
c.4337C= (p.Pro1446=)
c.4460C= (p.Pro1487=)
n.870C=
n.611+4552G=
c.4106C= (p.Pro1369=)
c.3749C= (p.Pro1250=)
2g.166204370G>TCA349058131SCN1A-AS1,SCN9Ac.4493C>A (p.Pro1498His)
c.4337C>A (p.Pro1446His)
c.4460C>A (p.Pro1487His)
n.870C>A
n.611+4552G>T
c.4106C>A (p.Pro1369His)
c.3749C>A (p.Pro1250His)
2g.166204371G>ACA1943858SCN1A-AS1,SCN9Ac.4492C>T (p.Pro1498Ser)
c.4336C>T (p.Pro1446Ser)
c.4459C>T (p.Pro1487Ser)
n.869C>T
n.611+4553G>A
c.4105C>T (p.Pro1369Ser)
c.3748C>T (p.Pro1250Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166204371G>CCA349058133SCN1A-AS1,SCN9Ac.4492C>G (p.Pro1498Ala)
c.4336C>G (p.Pro1446Ala)
c.4459C>G (p.Pro1487Ala)
n.869C>G
n.611+4553G>C
c.4105C>G (p.Pro1369Ala)
c.3748C>G (p.Pro1250Ala)
2g.166204371G=CA1304932121SCN1A-AS1,SCN9Ac.4492C= (p.Pro1498=)
c.4336C= (p.Pro1446=)
c.4459C= (p.Pro1487=)
n.869C=
n.611+4553G=
c.4105C= (p.Pro1369=)
c.3748C= (p.Pro1250=)
2g.166204371G>TCA349058134SCN1A-AS1,SCN9Ac.4492C>A (p.Pro1498Thr)
c.4336C>A (p.Pro1446Thr)
c.4459C>A (p.Pro1487Thr)
n.869C>A
n.611+4553G>T
c.4105C>A (p.Pro1369Thr)
c.3748C>A (p.Pro1250Thr)
2g.166204372A>CCA349058135SCN1A-AS1,SCN9Ac.4491T>G (p.Ile1497Met)
c.4335T>G (p.Ile1445Met)
c.4458T>G (p.Ile1486Met)
n.868T>G
n.611+4554A>C
c.4104T>G (p.Ile1368Met)
c.3747T>G (p.Ile1249Met)
2g.166204372A>GCA429893527SCN1A-AS1,SCN9Ac.4491T>C (p.Ile1497=)
c.4335T>C (p.Ile1445=)
c.4458T>C (p.Ile1486=)
n.868T>C
n.611+4554A>G
c.4104T>C (p.Ile1368=)
c.3747T>C (p.Ile1249=)
2g.166204372A>TCA429893528SCN1A-AS1,SCN9Ac.4491T>A (p.Ile1497=)
c.4335T>A (p.Ile1445=)
c.4458T>A (p.Ile1486=)
n.868T>A
n.611+4554A>T
c.4104T>A (p.Ile1368=)
c.3747T>A (p.Ile1249=)
2g.166204373A>CCA349058136SCN1A-AS1,SCN9Ac.4490T>G (p.Ile1497Ser)
c.4334T>G (p.Ile1445Ser)
c.4457T>G (p.Ile1486Ser)
n.867T>G
n.611+4555A>C
c.4103T>G (p.Ile1368Ser)
c.3746T>G (p.Ile1249Ser)
2g.166204373A>GCA349058137SCN1A-AS1,SCN9Ac.4490T>C (p.Ile1497Thr)
c.4334T>C (p.Ile1445Thr)
c.4457T>C (p.Ile1486Thr)
n.867T>C
n.611+4555A>G
c.4103T>C (p.Ile1368Thr)
c.3746T>C (p.Ile1249Thr)
2g.166204373A>TCA349058138SCN1A-AS1,SCN9Ac.4490T>A (p.Ile1497Asn)
c.4334T>A (p.Ile1445Asn)
c.4457T>A (p.Ile1486Asn)
n.867T>A
n.611+4555A>T
c.4103T>A (p.Ile1368Asn)
c.3746T>A (p.Ile1249Asn)
2g.166204374T>ACA349058139SCN1A-AS1,SCN9Ac.4489A>T (p.Ile1497Phe)
c.4333A>T (p.Ile1445Phe)
c.4456A>T (p.Ile1486Phe)
n.866A>T
n.611+4556T>A
c.4102A>T (p.Ile1368Phe)
c.3745A>T (p.Ile1249Phe)
2g.166204374T>CCA349058140SCN1A-AS1,SCN9Ac.4489A>G (p.Ile1497Val)
c.4333A>G (p.Ile1445Val)
c.4456A>G (p.Ile1486Val)
n.866A>G
n.611+4556T>C
c.4102A>G (p.Ile1368Val)
c.3745A>G (p.Ile1249Val)
 gnomAD v4
2g.166204374T>GCA349058141SCN1A-AS1,SCN9Ac.4489A>C (p.Ile1497Leu)
c.4333A>C (p.Ile1445Leu)
c.4456A>C (p.Ile1486Leu)
n.866A>C
n.611+4556T>G
c.4102A>C (p.Ile1368Leu)
c.3745A>C (p.Ile1249Leu)
2g.166204375T>ACA429893529SCN1A-AS1,SCN9Ac.4488A>T (p.Pro1496=)
c.4332A>T (p.Pro1444=)
c.4455A>T (p.Pro1485=)
n.865A>T
n.611+4557T>A
c.4101A>T (p.Pro1367=)
c.3744A>T (p.Pro1248=)
 gnomAD v4
2g.166204375T>CCA429893530SCN1A-AS1,SCN9Ac.4488A>G (p.Pro1496=)
c.4332A>G (p.Pro1444=)
c.4455A>G (p.Pro1485=)
n.865A>G
n.611+4557T>C
c.4101A>G (p.Pro1367=)
c.3744A>G (p.Pro1248=)
2g.166204375T>GCA429893531SCN1A-AS1,SCN9Ac.4488A>C (p.Pro1496=)
c.4332A>C (p.Pro1444=)
c.4455A>C (p.Pro1485=)
n.865A>C
n.611+4557T>G
c.4101A>C (p.Pro1367=)
c.3744A>C (p.Pro1248=)
2g.166204376G>ACA349058144SCN1A-AS1,SCN9Ac.4487C>T (p.Pro1496Leu)
c.4331C>T (p.Pro1444Leu)
c.4454C>T (p.Pro1485Leu)
n.864C>T
n.611+4558G>A
c.4100C>T (p.Pro1367Leu)
c.3743C>T (p.Pro1248Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.166204376G>CCA349058142SCN1A-AS1,SCN9Ac.4487C>G (p.Pro1496Arg)
c.4331C>G (p.Pro1444Arg)
c.4454C>G (p.Pro1485Arg)
n.864C>G
n.611+4558G>C
c.4100C>G (p.Pro1367Arg)
c.3743C>G (p.Pro1248Arg)
2g.166204376G=CA1304932122SCN1A-AS1,SCN9Ac.4487C= (p.Pro1496=)
c.4331C= (p.Pro1444=)
c.4454C= (p.Pro1485=)
n.864C=
n.611+4558G=
c.4100C= (p.Pro1367=)
c.3743C= (p.Pro1248=)
2g.166204376G>TCA349058143SCN1A-AS1,SCN9Ac.4487C>A (p.Pro1496Gln)
c.4331C>A (p.Pro1444Gln)
c.4454C>A (p.Pro1485Gln)
n.864C>A
n.611+4558G>T
c.4100C>A (p.Pro1367Gln)
c.3743C>A (p.Pro1248Gln)
 gnomAD v4
2g.166204377G>ACA349058145SCN1A-AS1,SCN9Ac.4486C>T (p.Pro1496Ser)
c.4330C>T (p.Pro1444Ser)
c.4453C>T (p.Pro1485Ser)
n.863C>T
n.611+4559G>A
c.4099C>T (p.Pro1367Ser)
c.3742C>T (p.Pro1248Ser)
 COSMIC COSMIC
2g.166204377G>CCA349058146SCN1A-AS1,SCN9Ac.4486C>G (p.Pro1496Ala)
c.4330C>G (p.Pro1444Ala)
c.4453C>G (p.Pro1485Ala)
n.863C>G
n.611+4559G>C
c.4099C>G (p.Pro1367Ala)
c.3742C>G (p.Pro1248Ala)
 gnomAD v4
2g.166204377G=CA1304932123SCN1A-AS1,SCN9Ac.4486C= (p.Pro1496=)
c.4330C= (p.Pro1444=)
c.4453C= (p.Pro1485=)
n.863C=
n.611+4559G=
c.4099C= (p.Pro1367=)
c.3742C= (p.Pro1248=)
2g.166204377G>TCA349058147SCN1A-AS1,SCN9Ac.4486C>A (p.Pro1496Thr)
c.4330C>A (p.Pro1444Thr)
c.4453C>A (p.Pro1485Thr)
n.863C>A
n.611+4559G>T
c.4099C>A (p.Pro1367Thr)
c.3742C>A (p.Pro1248Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.166204378C>ACA349058148SCN1A-AS1,SCN9Ac.4485G>T (p.Lys1495Asn)
c.4329G>T (p.Lys1443Asn)
c.4452G>T (p.Lys1484Asn)
n.862G>T
n.611+4560C>A
c.4098G>T (p.Lys1366Asn)
c.3741G>T (p.Lys1247Asn)
2g.166204378C=CA1304932124SCN1A-AS1,SCN9Ac.4485G= (p.Lys1495=)
c.4329G= (p.Lys1443=)
c.4452G= (p.Lys1484=)
n.862G=
n.611+4560C=
c.4098G= (p.Lys1366=)
c.3741G= (p.Lys1247=)
2g.166204378C>GCA349058149SCN1A-AS1,SCN9Ac.4485G>C (p.Lys1495Asn)
c.4329G>C (p.Lys1443Asn)
c.4452G>C (p.Lys1484Asn)
n.862G>C
n.611+4560C>G
c.4098G>C (p.Lys1366Asn)
c.3741G>C (p.Lys1247Asn)
2g.166204378C>TCA429893532SCN1A-AS1,SCN9Ac.4485G>A (p.Lys1495=)
c.4329G>A (p.Lys1443=)
c.4452G>A (p.Lys1484=)
n.862G>A
n.611+4560C>T
c.4098G>A (p.Lys1366=)
c.3741G>A (p.Lys1247=)
 dbSNP gnomAD v2
2g.166204379T>ACA349058155SCN1A-AS1,SCN9Ac.4484A>T (p.Lys1495Met)
c.4328A>T (p.Lys1443Met)
c.4451A>T (p.Lys1484Met)
n.861A>T
n.611+4561T>A
c.4097A>T (p.Lys1366Met)
c.3740A>T (p.Lys1247Met)
 dbSNP gnomAD v3 gnomAD v4
2g.166204379T>CCA349058151SCN1A-AS1,SCN9Ac.4484A>G (p.Lys1495Arg)
c.4328A>G (p.Lys1443Arg)
c.4451A>G (p.Lys1484Arg)
n.861A>G
n.611+4561T>C
c.4097A>G (p.Lys1366Arg)
c.3740A>G (p.Lys1247Arg)
2g.166204379T>GCA349058154SCN1A-AS1,SCN9Ac.4484A>C (p.Lys1495Thr)
c.4328A>C (p.Lys1443Thr)
c.4451A>C (p.Lys1484Thr)
n.861A>C
n.611+4561T>G
c.4097A>C (p.Lys1366Thr)
c.3740A>C (p.Lys1247Thr)
2g.166204379T=CA1304932125SCN1A-AS1,SCN9Ac.4484A= (p.Lys1495=)
c.4328A= (p.Lys1443=)
c.4451A= (p.Lys1484=)
n.861A=
n.611+4561T=
c.4097A= (p.Lys1366=)
c.3740A= (p.Lys1247=)
2g.166204381_166204382delCA2586970862SCN1A-AS1,SCN9Ac.4483_4484del (p.Lys1495AlafsTer15)
c.4327_4328del (p.Lys1443AlafsTer15)
c.4450_4451del (p.Lys1484AlafsTer15)
n.860_861del
n.611+4563_611+4564del
c.4483_4484del (p.Lys1495AlafsTer?)
c.4096_4097del (p.Lys1366AlafsTer15)
c.3739_3740del (p.Lys1247AlafsTer15)
2g.166204380T>ACA349058156SCN1A-AS1,SCN9Ac.4483A>T (p.Lys1495Ter)
c.4327A>T (p.Lys1443Ter)
c.4450A>T (p.Lys1484Ter)
n.860A>T
n.611+4562T>A
c.4096A>T (p.Lys1366Ter)
c.3739A>T (p.Lys1247Ter)
 dbSNP
2g.166204380T>CCA349058158SCN1A-AS1,SCN9Ac.4483A>G (p.Lys1495Glu)
c.4327A>G (p.Lys1443Glu)
c.4450A>G (p.Lys1484Glu)
n.860A>G
n.611+4562T>C
c.4096A>G (p.Lys1366Glu)
c.3739A>G (p.Lys1247Glu)
2g.166204380T>GCA349058159SCN1A-AS1,SCN9Ac.4483A>C (p.Lys1495Gln)
c.4327A>C (p.Lys1443Gln)
c.4450A>C (p.Lys1484Gln)
n.860A>C
n.611+4562T>G
c.4096A>C (p.Lys1366Gln)
c.3739A>C (p.Lys1247Gln)
2g.166204380T=CA1304932126SCN1A-AS1,SCN9Ac.4483A= (p.Lys1495=)
c.4327A= (p.Lys1443=)
c.4450A= (p.Lys1484=)
n.860A=
n.611+4562T=
c.4096A= (p.Lys1366=)
c.3739A= (p.Lys1247=)
2g.166204381T>ACA349058161SCN1A-AS1,SCN9Ac.4482A>T (p.Gln1494His)
c.4326A>T (p.Gln1442His)
c.4449A>T (p.Gln1483His)
n.859A>T
n.611+4563T>A
c.4095A>T (p.Gln1365His)
c.3738A>T (p.Gln1246His)
2g.166204381T>CCA429893533SCN1A-AS1,SCN9Ac.4482A>G (p.Gln1494=)
c.4326A>G (p.Gln1442=)
c.4449A>G (p.Gln1483=)
n.859A>G
n.611+4563T>C
c.4095A>G (p.Gln1365=)
c.3738A>G (p.Gln1246=)
 ClinVar dbSNP
2g.166204381T>GCA349058162SCN1A-AS1,SCN9Ac.4482A>C (p.Gln1494His)
c.4326A>C (p.Gln1442His)
c.4449A>C (p.Gln1483His)
n.859A>C
n.611+4563T>G
c.4095A>C (p.Gln1365His)
c.3738A>C (p.Gln1246His)
2g.166204381T=CA1304932127SCN1A-AS1,SCN9Ac.4482A= (p.Gln1494=)
c.4326A= (p.Gln1442=)
c.4449A= (p.Gln1483=)
n.859A=
n.611+4563T=
c.4095A= (p.Gln1365=)
c.3738A= (p.Gln1246=)
2g.166204382T>ACA349058167SCN1A-AS1,SCN9Ac.4481A>T (p.Gln1494Leu)
c.4325A>T (p.Gln1442Leu)
c.4448A>T (p.Gln1483Leu)
n.858A>T
n.611+4564T>A
c.4094A>T (p.Gln1365Leu)
c.3737A>T (p.Gln1246Leu)
2g.166204382T>CCA349058166SCN1A-AS1,SCN9Ac.4481A>G (p.Gln1494Arg)
c.4325A>G (p.Gln1442Arg)
c.4448A>G (p.Gln1483Arg)
n.858A>G
n.611+4564T>C
c.4094A>G (p.Gln1365Arg)
c.3737A>G (p.Gln1246Arg)
2g.166204382T>GCA349058164SCN1A-AS1,SCN9Ac.4481A>C (p.Gln1494Pro)
c.4325A>C (p.Gln1442Pro)
c.4448A>C (p.Gln1483Pro)
n.858A>C
n.611+4564T>G
c.4094A>C (p.Gln1365Pro)
c.3737A>C (p.Gln1246Pro)
 gnomAD v4
2g.166204383G>ACA349058169SCN1A-AS1,SCN9Ac.4480C>T (p.Gln1494Ter)
c.4324C>T (p.Gln1442Ter)
c.4447C>T (p.Gln1483Ter)
n.857C>T
n.611+4565G>A
c.4093C>T (p.Gln1365Ter)
c.3736C>T (p.Gln1246Ter)
 dbSNP
2g.166204383G>CCA1943859SCN1A-AS1,SCN9Ac.4480C>G (p.Gln1494Glu)
c.4324C>G (p.Gln1442Glu)
c.4447C>G (p.Gln1483Glu)
n.857C>G
n.611+4565G>C
c.4093C>G (p.Gln1365Glu)
c.3736C>G (p.Gln1246Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204383G=CA1304932128SCN1A-AS1,SCN9Ac.4480C= (p.Gln1494=)
c.4324C= (p.Gln1442=)
c.4447C= (p.Gln1483=)
n.857C=
n.611+4565G=
c.4093C= (p.Gln1365=)
c.3736C= (p.Gln1246=)
2g.166204383G>TCA349058171SCN1A-AS1,SCN9Ac.4480C>A (p.Gln1494Lys)
c.4324C>A (p.Gln1442Lys)
c.4447C>A (p.Gln1483Lys)
n.857C>A
n.611+4565G>T
c.4093C>A (p.Gln1365Lys)
c.3736C>A (p.Gln1246Lys)
2g.166204384T>ACA429893534SCN1A-AS1,SCN9Ac.4479A>T (p.Pro1493=)
c.4323A>T (p.Pro1441=)
c.4446A>T (p.Pro1482=)
n.856A>T
n.611+4566T>A
c.4092A>T (p.Pro1364=)
c.3735A>T (p.Pro1245=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166204384T>CCA429893535SCN1A-AS1,SCN9Ac.4479A>G (p.Pro1493=)
c.4323A>G (p.Pro1441=)
c.4446A>G (p.Pro1482=)
n.856A>G
n.611+4566T>C
c.4092A>G (p.Pro1364=)
c.3735A>G (p.Pro1245=)
2g.166204384T>GCA429893536SCN1A-AS1,SCN9Ac.4479A>C (p.Pro1493=)
c.4323A>C (p.Pro1441=)
c.4446A>C (p.Pro1482=)
n.856A>C
n.611+4566T>G
c.4092A>C (p.Pro1364=)
c.3735A>C (p.Pro1245=)
 dbSNP gnomAD v2 gnomAD v4
2g.166204384T=CA1304932129SCN1A-AS1,SCN9Ac.4479A= (p.Pro1493=)
c.4323A= (p.Pro1441=)
c.4446A= (p.Pro1482=)
n.856A=
n.611+4566T=
c.4092A= (p.Pro1364=)
c.3735A= (p.Pro1245=)
2g.166204389_166204390insTTTTGGCTTCA537131997SCN1A-AS1,SCN9Ac.4479_4480insAAAAAGCCA (p.Pro1493_Gln1494insLysLysPro)
c.4323_4324insAAAAAGCCA (p.Pro1441_Gln1442insLysLysPro)
c.4446_4447insAAAAAGCCA (p.Pro1482_Gln1483insLysLysPro)
n.856_857insAAAAAGCCA
n.611+4571_611+4572insTTTTGGCTT
c.4092_4093insAAAAAGCCA (p.Pro1364_Gln1365insLysLysPro)
c.3735_3736insAAAAAGCCA (p.Pro1245_Gln1246insLysLysPro)
 gnomAD v2 gnomAD v4
2g.166204385G>ACA349058173SCN1A-AS1,SCN9Ac.4478C>T (p.Pro1493Leu)
c.4322C>T (p.Pro1441Leu)
c.4445C>T (p.Pro1482Leu)
n.855C>T
n.611+4567G>A
c.4091C>T (p.Pro1364Leu)
c.3734C>T (p.Pro1245Leu)
2g.166204385G>CCA349058174SCN1A-AS1,SCN9Ac.4478C>G (p.Pro1493Arg)
c.4322C>G (p.Pro1441Arg)
c.4445C>G (p.Pro1482Arg)
n.855C>G
n.611+4567G>C
c.4091C>G (p.Pro1364Arg)
c.3734C>G (p.Pro1245Arg)
2g.166204385G>TCA349058175SCN1A-AS1,SCN9Ac.4478C>A (p.Pro1493Gln)
c.4322C>A (p.Pro1441Gln)
c.4445C>A (p.Pro1482Gln)
n.855C>A
n.611+4567G>T
c.4091C>A (p.Pro1364Gln)
c.3734C>A (p.Pro1245Gln)
2g.166204386G>ACA349058177SCN1A-AS1,SCN9Ac.4477C>T (p.Pro1493Ser)
c.4321C>T (p.Pro1441Ser)
c.4444C>T (p.Pro1482Ser)
n.854C>T
n.611+4568G>A
c.4090C>T (p.Pro1364Ser)
c.3733C>T (p.Pro1245Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.166204386G>CCA349058181SCN1A-AS1,SCN9Ac.4477C>G (p.Pro1493Ala)
c.4321C>G (p.Pro1441Ala)
c.4444C>G (p.Pro1482Ala)
n.854C>G
n.611+4568G>C
c.4090C>G (p.Pro1364Ala)
c.3733C>G (p.Pro1245Ala)
 ClinVar dbSNP gnomAD v4
2g.166204386G=CA1304932130SCN1A-AS1,SCN9Ac.4477C= (p.Pro1493=)
c.4321C= (p.Pro1441=)
c.4444C= (p.Pro1482=)
n.854C=
n.611+4568G=
c.4090C= (p.Pro1364=)
c.3733C= (p.Pro1245=)
2g.166204386G>TCA349058179SCN1A-AS1,SCN9Ac.4477C>A (p.Pro1493Thr)
c.4321C>A (p.Pro1441Thr)
c.4444C>A (p.Pro1482Thr)
n.854C>A
n.611+4568G>T
c.4090C>A (p.Pro1364Thr)
c.3733C>A (p.Pro1245Thr)
2g.166204387C>ACA10584164SCN1A-AS1,SCN9Ac.4476G>T (p.Lys1492Asn)
c.4320G>T (p.Lys1440Asn)
c.4443G>T (p.Lys1481Asn)
n.853G>T
n.611+4569C>A
c.4089G>T (p.Lys1363Asn)
c.3732G>T (p.Lys1244Asn)
 ClinVar dbSNP gnomAD v4
2g.166204387C=CA1304932131SCN1A-AS1,SCN9Ac.4476G= (p.Lys1492=)
c.4320G= (p.Lys1440=)
c.4443G= (p.Lys1481=)
n.853G=
n.611+4569C=
c.4089G= (p.Lys1363=)
c.3732G= (p.Lys1244=)
2g.166204387C>GCA349058183SCN1A-AS1,SCN9Ac.4476G>C (p.Lys1492Asn)
c.4320G>C (p.Lys1440Asn)
c.4443G>C (p.Lys1481Asn)
n.853G>C
n.611+4569C>G
c.4089G>C (p.Lys1363Asn)
c.3732G>C (p.Lys1244Asn)
2g.166204387C>TCA429893537SCN1A-AS1,SCN9Ac.4476G>A (p.Lys1492=)
c.4320G>A (p.Lys1440=)
c.4443G>A (p.Lys1481=)
n.853G>A
n.611+4569C>T
c.4089G>A (p.Lys1363=)
c.3732G>A (p.Lys1244=)
2g.166204388T>ACA349058185SCN1A-AS1,SCN9Ac.4475A>T (p.Lys1492Met)
c.4319A>T (p.Lys1440Met)
c.4442A>T (p.Lys1481Met)
n.852A>T
n.611+4570T>A
c.4088A>T (p.Lys1363Met)
c.3731A>T (p.Lys1244Met)
 COSMIC COSMIC
2g.166204388T>CCA349058186SCN1A-AS1,SCN9Ac.4475A>G (p.Lys1492Arg)
c.4319A>G (p.Lys1440Arg)
c.4442A>G (p.Lys1481Arg)
n.852A>G
n.611+4570T>C
c.4088A>G (p.Lys1363Arg)
c.3731A>G (p.Lys1244Arg)
2g.166204388T>GCA349058188SCN1A-AS1,SCN9Ac.4475A>C (p.Lys1492Thr)
c.4319A>C (p.Lys1440Thr)
c.4442A>C (p.Lys1481Thr)
n.852A>C
n.611+4570T>G
c.4088A>C (p.Lys1363Thr)
c.3731A>C (p.Lys1244Thr)
2g.166204389dupCA537131998SCN1A-AS1,SCN9Ac.4475dup (p.Pro1493AlafsTer18)
c.4319dup (p.Pro1441AlafsTer18)
c.4442dup (p.Pro1482AlafsTer18)
n.852dup
n.611+4571dup
c.4475dup (p.Pro1493AlafsTer?)
c.4088dup (p.Pro1364AlafsTer18)
c.3731dup (p.Pro1245AlafsTer18)
 dbSNP gnomAD v2
2g.166204389T>ACA349058193SCN1A-AS1,SCN9Ac.4474A>T (p.Lys1492Ter)
c.4318A>T (p.Lys1440Ter)
c.4441A>T (p.Lys1481Ter)
n.851A>T
n.611+4571T>A
c.4087A>T (p.Lys1363Ter)
c.3730A>T (p.Lys1244Ter)
2g.166204389T>CCA349058191SCN1A-AS1,SCN9Ac.4474A>G (p.Lys1492Glu)
c.4318A>G (p.Lys1440Glu)
c.4441A>G (p.Lys1481Glu)
n.851A>G
n.611+4571T>C
c.4087A>G (p.Lys1363Glu)
c.3730A>G (p.Lys1244Glu)
 gnomAD v4
2g.166204389T>GCA349058190SCN1A-AS1,SCN9Ac.4474A>C (p.Lys1492Gln)
c.4318A>C (p.Lys1440Gln)
c.4441A>C (p.Lys1481Gln)
n.851A>C
n.611+4571T>G
c.4087A>C (p.Lys1363Gln)
c.3730A>C (p.Lys1244Gln)
2g.166204390C>ACA349058196SCN1A-AS1,SCN9Ac.4473G>T (p.Lys1491Asn)
c.4317G>T (p.Lys1439Asn)
c.4440G>T (p.Lys1480Asn)
n.850G>T
n.611+4572C>A
c.4086G>T (p.Lys1362Asn)
c.3729G>T (p.Lys1243Asn)
2g.166204390C=CA1304932132SCN1A-AS1,SCN9Ac.4473G= (p.Lys1491=)
c.4317G= (p.Lys1439=)
c.4440G= (p.Lys1480=)
n.850G=
n.611+4572C=
c.4086G= (p.Lys1362=)
c.3729G= (p.Lys1243=)
2g.166204390C>GCA349058198SCN1A-AS1,SCN9Ac.4473G>C (p.Lys1491Asn)
c.4317G>C (p.Lys1439Asn)
c.4440G>C (p.Lys1480Asn)
n.850G>C
n.611+4572C>G
c.4086G>C (p.Lys1362Asn)
c.3729G>C (p.Lys1243Asn)
2g.166204390C>TCA1943860SCN1A-AS1,SCN9Ac.4473G>A (p.Lys1491=)
c.4317G>A (p.Lys1439=)
c.4440G>A (p.Lys1480=)
n.850G>A
n.611+4572C>T
c.4086G>A (p.Lys1362=)
c.3729G>A (p.Lys1243=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166204391T>ACA349058200SCN1A-AS1,SCN9Ac.4472A>T (p.Lys1491Met)
c.4316A>T (p.Lys1439Met)
c.4439A>T (p.Lys1480Met)
n.849A>T
n.611+4573T>A
c.4085A>T (p.Lys1362Met)
c.3728A>T (p.Lys1243Met)
2g.166204391T>CCA349058202SCN1A-AS1,SCN9Ac.4472A>G (p.Lys1491Arg)
c.4316A>G (p.Lys1439Arg)
c.4439A>G (p.Lys1480Arg)
n.849A>G
n.611+4573T>C
c.4085A>G (p.Lys1362Arg)
c.3728A>G (p.Lys1243Arg)
2g.166204391T>GCA349058203SCN1A-AS1,SCN9Ac.4472A>C (p.Lys1491Thr)
c.4316A>C (p.Lys1439Thr)
c.4439A>C (p.Lys1480Thr)
n.849A>C
n.611+4573T>G
c.4085A>C (p.Lys1362Thr)
c.3728A>C (p.Lys1243Thr)
2g.166204391T=CA1304932133SCN1A-AS1,SCN9Ac.4472A= (p.Lys1491=)
c.4316A= (p.Lys1439=)
c.4439A= (p.Lys1480=)
n.849A=
n.611+4573T=
c.4085A= (p.Lys1362=)
c.3728A= (p.Lys1243=)
2g.166204392T>ACA349058206SCN1A-AS1,SCN9Ac.4471A>T (p.Lys1491Ter)
c.4315A>T (p.Lys1439Ter)
c.4438A>T (p.Lys1480Ter)
n.848A>T
n.611+4574T>A
c.4084A>T (p.Lys1362Ter)
c.3727A>T (p.Lys1243Ter)
 dbSNP
2g.166204392T>CCA349058208SCN1A-AS1,SCN9Ac.4471A>G (p.Lys1491Glu)
c.4315A>G (p.Lys1439Glu)
c.4438A>G (p.Lys1480Glu)
n.848A>G
n.611+4574T>C
c.4084A>G (p.Lys1362Glu)
c.3727A>G (p.Lys1243Glu)
2g.166204392T>GCA349058207SCN1A-AS1,SCN9Ac.4471A>C (p.Lys1491Gln)
c.4315A>C (p.Lys1439Gln)
c.4438A>C (p.Lys1480Gln)
n.848A>C
n.611+4574T>G
c.4084A>C (p.Lys1362Gln)
c.3727A>C (p.Lys1243Gln)
2g.166204392T=CA1304932134SCN1A-AS1,SCN9Ac.4471A= (p.Lys1491=)
c.4315A= (p.Lys1439=)
c.4438A= (p.Lys1480=)
n.848A=
n.611+4574T=
c.4084A= (p.Lys1362=)
c.3727A= (p.Lys1243=)
2g.166204392_166204393insTTGTCA537131999SCN1A-AS1,SCN9Ac.4471_4472insCAAA (p.Lys1491ThrfsTer21)
c.4315_4316insCAAA (p.Lys1439ThrfsTer21)
c.4438_4439insCAAA (p.Lys1480ThrfsTer21)
n.848_849insCAAA
n.611+4574_611+4575insTTGT
c.4471_4472insCAAA (p.Lys1491ThrfsTer?)
c.4084_4085insCAAA (p.Lys1362ThrfsTer21)
c.3727_3728insCAAA (p.Lys1243ThrfsTer21)
 dbSNP gnomAD v2
2g.166204392_166204402delinsTGGACCCCAGCCA1304932135SCN1A-AS1,SCN9Ac.4461_4471delinsGCTGGGGTCCA (p.Lys1487=)
c.4305_4315delinsGCTGGGGTCCA (p.Lys1435=)
c.4428_4438delinsGCTGGGGTCCA (p.Lys1476=)
n.838_848delinsGCTGGGGTCCA
n.611+4574_611+4584delinsTGGACCCCAGC
c.4074_4084delinsGCTGGGGTCCA (p.Lys1358=)
c.3717_3727delinsGCTGGGGTCCA (p.Lys1239=)
2g.166204393G>ACA429893538SCN1A-AS1,SCN9Ac.4470C>T (p.Ser1490=)
c.4314C>T (p.Ser1438=)
c.4437C>T (p.Ser1479=)
n.847C>T
n.611+4575G>A
c.4083C>T (p.Ser1361=)
c.3726C>T (p.Ser1242=)
2g.166204393G>CCA429893539SCN1A-AS1,SCN9Ac.4470C>G (p.Ser1490=)
c.4314C>G (p.Ser1438=)
c.4437C>G (p.Ser1479=)
n.847C>G
n.611+4575G>C
c.4083C>G (p.Ser1361=)
c.3726C>G (p.Ser1242=)
2g.166204393G=CA1304932136SCN1A-AS1,SCN9Ac.4470C= (p.Ser1490=)
c.4314C= (p.Ser1438=)
c.4437C= (p.Ser1479=)
n.847C=
n.611+4575G=
c.4083C= (p.Ser1361=)
c.3726C= (p.Ser1242=)
2g.166204393G>TCA1943861SCN1A-AS1,SCN9Ac.4470C>A (p.Ser1490=)
c.4314C>A (p.Ser1438=)
c.4437C>A (p.Ser1479=)
n.847C>A
n.611+4575G>T
c.4083C>A (p.Ser1361=)
c.3726C>A (p.Ser1242=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166204393_166204402delCA537132000SCN1A-AS1,SCN9Ac.4461_4470del (p.Leu1488ArgfsTer21)
c.4305_4314del (p.Leu1436ArgfsTer21)
c.4428_4437del (p.Leu1477ArgfsTer21)
n.838_847del
n.611+4575_611+4584del
c.4461_4470del (p.Leu1488ArgfsTer16)
c.4074_4083del (p.Leu1359ArgfsTer21)
c.3717_3726del (p.Leu1240ArgfsTer21)
 dbSNP gnomAD v2
2g.166204394G>ACA349058212SCN1A-AS1,SCN9Ac.4469C>T (p.Ser1490Phe)
c.4313C>T (p.Ser1438Phe)
c.4436C>T (p.Ser1479Phe)
n.846C>T
n.611+4576G>A
c.4082C>T (p.Ser1361Phe)
c.3725C>T (p.Ser1242Phe)
2g.166204394G>CCA349058213SCN1A-AS1,SCN9Ac.4469C>G (p.Ser1490Cys)
c.4313C>G (p.Ser1438Cys)
c.4436C>G (p.Ser1479Cys)
n.846C>G
n.611+4576G>C
c.4082C>G (p.Ser1361Cys)
c.3725C>G (p.Ser1242Cys)
2g.166204394G=CA1304932137SCN1A-AS1,SCN9Ac.4469C= (p.Ser1490=)
c.4313C= (p.Ser1438=)
c.4436C= (p.Ser1479=)
n.846C=
n.611+4576G=
c.4082C= (p.Ser1361=)
c.3725C= (p.Ser1242=)
2g.166204394G>TCA1943862SCN1A-AS1,SCN9Ac.4469C>A (p.Ser1490Tyr)
c.4313C>A (p.Ser1438Tyr)
c.4436C>A (p.Ser1479Tyr)
n.846C>A
n.611+4576G>T
c.4082C>A (p.Ser1361Tyr)
c.3725C>A (p.Ser1242Tyr)
 dbSNP ExAC gnomAD v2
2g.166204395A=CA1304932138SCN1A-AS1,SCN9Ac.4468T= (p.Ser1490=)
c.4312T= (p.Ser1438=)
c.4435T= (p.Ser1479=)
n.845T=
n.611+4577A=
c.4081T= (p.Ser1361=)
c.3724T= (p.Ser1242=)
2g.166204395A>CCA349058215SCN1A-AS1,SCN9Ac.4468T>G (p.Ser1490Ala)
c.4312T>G (p.Ser1438Ala)
c.4435T>G (p.Ser1479Ala)
n.845T>G
n.611+4577A>C
c.4081T>G (p.Ser1361Ala)
c.3724T>G (p.Ser1242Ala)
2g.166204395A>GCA349058217SCN1A-AS1,SCN9Ac.4468T>C (p.Ser1490Pro)
c.4312T>C (p.Ser1438Pro)
c.4435T>C (p.Ser1479Pro)
n.845T>C
n.611+4577A>G
c.4081T>C (p.Ser1361Pro)
c.3724T>C (p.Ser1242Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.166204395A>TCA1943863SCN1A-AS1,SCN9Ac.4468T>A (p.Ser1490Thr)
c.4312T>A (p.Ser1438Thr)
c.4435T>A (p.Ser1479Thr)
n.845T>A
n.611+4577A>T
c.4081T>A (p.Ser1361Thr)
c.3724T>A (p.Ser1242Thr)
 dbSNP ExAC gnomAD v2
2g.166204396C>ACA429893540SCN1A-AS1,SCN9Ac.4467G>T (p.Gly1489=)
c.4311G>T (p.Gly1437=)
c.4434G>T (p.Gly1478=)
n.844G>T
n.611+4578C>A
c.4080G>T (p.Gly1360=)
c.3723G>T (p.Gly1241=)
2g.166204396C=CA1304932139SCN1A-AS1,SCN9Ac.4467G= (p.Gly1489=)
c.4311G= (p.Gly1437=)
c.4434G= (p.Gly1478=)
n.844G=
n.611+4578C=
c.4080G= (p.Gly1360=)
c.3723G= (p.Gly1241=)
2g.166204396C>GCA429893541SCN1A-AS1,SCN9Ac.4467G>C (p.Gly1489=)
c.4311G>C (p.Gly1437=)
c.4434G>C (p.Gly1478=)
n.844G>C
n.611+4578C>G
c.4080G>C (p.Gly1360=)
c.3723G>C (p.Gly1241=)
2g.166204396C>TCA1943864SCN1A-AS1,SCN9Ac.4467G>A (p.Gly1489=)
c.4311G>A (p.Gly1437=)
c.4434G>A (p.Gly1478=)
n.844G>A
n.611+4578C>T
c.4080G>A (p.Gly1360=)
c.3723G>A (p.Gly1241=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204397C>ACA349058220SCN1A-AS1,SCN9Ac.4466G>T (p.Gly1489Val)
c.4310G>T (p.Gly1437Val)
c.4433G>T (p.Gly1478Val)
n.843G>T
n.611+4579C>A
c.4079G>T (p.Gly1360Val)
c.3722G>T (p.Gly1241Val)
 gnomAD v4
2g.166204397C>GCA349058221SCN1A-AS1,SCN9Ac.4466G>C (p.Gly1489Ala)
c.4310G>C (p.Gly1437Ala)
c.4433G>C (p.Gly1478Ala)
n.843G>C
n.611+4579C>G
c.4079G>C (p.Gly1360Ala)
c.3722G>C (p.Gly1241Ala)
2g.166204397C>TCA349058223SCN1A-AS1,SCN9Ac.4466G>A (p.Gly1489Glu)
c.4310G>A (p.Gly1437Glu)
c.4433G>A (p.Gly1478Glu)
n.843G>A
n.611+4579C>T
c.4079G>A (p.Gly1360Glu)
c.3722G>A (p.Gly1241Glu)
2g.166204398C>ACA349058225SCN1A-AS1,SCN9Ac.4465G>T (p.Gly1489Trp)
c.4309G>T (p.Gly1437Trp)
c.4432G>T (p.Gly1478Trp)
n.842G>T
n.611+4580C>A
c.4078G>T (p.Gly1360Trp)
c.3721G>T (p.Gly1241Trp)
2g.166204398C>GCA349058228SCN1A-AS1,SCN9Ac.4465G>C (p.Gly1489Arg)
c.4309G>C (p.Gly1437Arg)
c.4432G>C (p.Gly1478Arg)
n.842G>C
n.611+4580C>G
c.4078G>C (p.Gly1360Arg)
c.3721G>C (p.Gly1241Arg)
2g.166204398C>TCA349058226SCN1A-AS1,SCN9Ac.4465G>A (p.Gly1489Arg)
c.4309G>A (p.Gly1437Arg)
c.4432G>A (p.Gly1478Arg)
n.842G>A
n.611+4580C>T
c.4078G>A (p.Gly1360Arg)
c.3721G>A (p.Gly1241Arg)
 gnomAD v4
2g.166204399C>ACA429893543SCN1A-AS1,SCN9Ac.4464G>T (p.Leu1488=)
c.4308G>T (p.Leu1436=)
c.4431G>T (p.Leu1477=)
n.841G>T
n.611+4581C>A
c.4077G>T (p.Leu1359=)
c.3720G>T (p.Leu1240=)
2g.166204399C=CA1304932140SCN1A-AS1,SCN9Ac.4464G= (p.Leu1488=)
c.4308G= (p.Leu1436=)
c.4431G= (p.Leu1477=)
n.841G=
n.611+4581C=
c.4077G= (p.Leu1359=)
c.3720G= (p.Leu1240=)
2g.166204399C>GCA429893544SCN1A-AS1,SCN9Ac.4464G>C (p.Leu1488=)
c.4308G>C (p.Leu1436=)
c.4431G>C (p.Leu1477=)
n.841G>C
n.611+4581C>G
c.4077G>C (p.Leu1359=)
c.3720G>C (p.Leu1240=)
 dbSNP gnomAD v2 gnomAD v4
2g.166204399C>TCA429893545SCN1A-AS1,SCN9Ac.4464G>A (p.Leu1488=)
c.4308G>A (p.Leu1436=)
c.4431G>A (p.Leu1477=)
n.841G>A
n.611+4581C>T
c.4077G>A (p.Leu1359=)
c.3720G>A (p.Leu1240=)
 dbSNP
2g.166204400A=CA1304932141SCN1A-AS1,SCN9Ac.4463T= (p.Leu1488=)
c.4307T= (p.Leu1436=)
c.4430T= (p.Leu1477=)
n.840T=
n.611+4582A=
c.4076T= (p.Leu1359=)
c.3719T= (p.Leu1240=)
2g.166204400A>CCA1943865SCN1A-AS1,SCN9Ac.4463T>G (p.Leu1488Arg)
c.4307T>G (p.Leu1436Arg)
c.4430T>G (p.Leu1477Arg)
n.840T>G
n.611+4582A>C
c.4076T>G (p.Leu1359Arg)
c.3719T>G (p.Leu1240Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166204400A>GCA349058231SCN1A-AS1,SCN9Ac.4463T>C (p.Leu1488Pro)
c.4307T>C (p.Leu1436Pro)
c.4430T>C (p.Leu1477Pro)
n.840T>C
n.611+4582A>G
c.4076T>C (p.Leu1359Pro)
c.3719T>C (p.Leu1240Pro)
2g.166204400A>TCA349058230SCN1A-AS1,SCN9Ac.4463T>A (p.Leu1488Gln)
c.4307T>A (p.Leu1436Gln)
c.4430T>A (p.Leu1477Gln)
n.840T>A
n.611+4582A>T
c.4076T>A (p.Leu1359Gln)
c.3719T>A (p.Leu1240Gln)
2g.166204401G>ACA1943866SCN1A-AS1,SCN9Ac.4462C>T (p.Leu1488=)
c.4306C>T (p.Leu1436=)
c.4429C>T (p.Leu1477=)
n.839C>T
n.611+4583G>A
c.4075C>T (p.Leu1359=)
c.3718C>T (p.Leu1240=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166204401G>CCA349058232SCN1A-AS1,SCN9Ac.4462C>G (p.Leu1488Val)
c.4306C>G (p.Leu1436Val)
c.4429C>G (p.Leu1477Val)
n.839C>G
n.611+4583G>C
c.4075C>G (p.Leu1359Val)
c.3718C>G (p.Leu1240Val)
2g.166204401G=CA1304932142SCN1A-AS1,SCN9Ac.4462C= (p.Leu1488=)
c.4306C= (p.Leu1436=)
c.4429C= (p.Leu1477=)
n.839C=
n.611+4583G=
c.4075C= (p.Leu1359=)
c.3718C= (p.Leu1240=)
2g.166204401G>TCA349058233SCN1A-AS1,SCN9Ac.4462C>A (p.Leu1488Met)
c.4306C>A (p.Leu1436Met)
c.4429C>A (p.Leu1477Met)
n.839C>A
n.611+4583G>T
c.4075C>A (p.Leu1359Met)
c.3718C>A (p.Leu1240Met)
2g.166204402C>ACA349058234SCN1A-AS1,SCN9Ac.4461G>T (p.Lys1487Asn)
c.4305G>T (p.Lys1435Asn)
c.4428G>T (p.Lys1476Asn)
n.838G>T
n.611+4584C>A
c.4074G>T (p.Lys1358Asn)
c.3717G>T (p.Lys1239Asn)
2g.166204402C>GCA349058236SCN1A-AS1,SCN9Ac.4461G>C (p.Lys1487Asn)
c.4305G>C (p.Lys1435Asn)
c.4428G>C (p.Lys1476Asn)
n.838G>C
n.611+4584C>G
c.4074G>C (p.Lys1358Asn)
c.3717G>C (p.Lys1239Asn)
2g.166204402C>TCA429893547SCN1A-AS1,SCN9Ac.4461G>A (p.Lys1487=)
c.4305G>A (p.Lys1435=)
c.4428G>A (p.Lys1476=)
n.838G>A
n.611+4584C>T
c.4074G>A (p.Lys1358=)
c.3717G>A (p.Lys1239=)
2g.166204403T>ACA349058237SCN1A-AS1,SCN9Ac.4460A>T (p.Lys1487Met)
c.4304A>T (p.Lys1435Met)
c.4427A>T (p.Lys1476Met)
n.837A>T
n.611+4585T>A
c.4073A>T (p.Lys1358Met)
c.3716A>T (p.Lys1239Met)
2g.166204403T>CCA349058238SCN1A-AS1,SCN9Ac.4460A>G (p.Lys1487Arg)
c.4304A>G (p.Lys1435Arg)
c.4427A>G (p.Lys1476Arg)
n.837A>G
n.611+4585T>C
c.4073A>G (p.Lys1358Arg)
c.3716A>G (p.Lys1239Arg)
2g.166204403T>GCA1943867SCN1A-AS1,SCN9Ac.4460A>C (p.Lys1487Thr)
c.4304A>C (p.Lys1435Thr)
c.4427A>C (p.Lys1476Thr)
n.837A>C
n.611+4585T>G
c.4073A>C (p.Lys1358Thr)
c.3716A>C (p.Lys1239Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166204403T=CA1304932143SCN1A-AS1,SCN9Ac.4460A= (p.Lys1487=)
c.4304A= (p.Lys1435=)
c.4427A= (p.Lys1476=)
n.837A=
n.611+4585T=
c.4073A= (p.Lys1358=)
c.3716A= (p.Lys1239=)
2g.166204407dupCA2843549957SCN1A-AS1,SCN9Ac.4460dup (p.Leu1488AlafsTer23)
c.4304dup (p.Leu1436AlafsTer23)
c.4427dup (p.Leu1477AlafsTer23)
n.837dup
n.611+4589dup
c.4460dup (p.Leu1488AlafsTer?)
c.4073dup (p.Leu1359AlafsTer23)
c.3716dup (p.Leu1240AlafsTer23)
2g.166204404T>ACA349058240SCN1A-AS1,SCN9Ac.4459A>T (p.Lys1487Ter)
c.4303A>T (p.Lys1435Ter)
c.4426A>T (p.Lys1476Ter)
n.836A>T
n.611+4586T>A
c.4072A>T (p.Lys1358Ter)
c.3715A>T (p.Lys1239Ter)
 dbSNP
2g.166204404T>CCA349058241SCN1A-AS1,SCN9Ac.4459A>G (p.Lys1487Glu)
c.4303A>G (p.Lys1435Glu)
c.4426A>G (p.Lys1476Glu)
n.836A>G
n.611+4586T>C
c.4072A>G (p.Lys1358Glu)
c.3715A>G (p.Lys1239Glu)
2g.166204404T>GCA349058242SCN1A-AS1,SCN9Ac.4459A>C (p.Lys1487Gln)
c.4303A>C (p.Lys1435Gln)
c.4426A>C (p.Lys1476Gln)
n.836A>C
n.611+4586T>G
c.4072A>C (p.Lys1358Gln)
c.3715A>C (p.Lys1239Gln)
2g.166204404T=CA1304932144SCN1A-AS1,SCN9Ac.4459A= (p.Lys1487=)
c.4303A= (p.Lys1435=)
c.4426A= (p.Lys1476=)
n.836A=
n.611+4586T=
c.4072A= (p.Lys1358=)
c.3715A= (p.Lys1239=)
2g.166204405T>ACA349058246SCN1A-AS1,SCN9Ac.4458A>T (p.Lys1486Asn)
c.4302A>T (p.Lys1434Asn)
c.4425A>T (p.Lys1475Asn)
n.835A>T
n.611+4587T>A
c.4071A>T (p.Lys1357Asn)
c.3714A>T (p.Lys1238Asn)
2g.166204405T>CCA429893548SCN1A-AS1,SCN9Ac.4458A>G (p.Lys1486=)
c.4302A>G (p.Lys1434=)
c.4425A>G (p.Lys1475=)
n.835A>G
n.611+4587T>C
c.4071A>G (p.Lys1357=)
c.3714A>G (p.Lys1238=)
2g.166204405T>GCA349058244SCN1A-AS1,SCN9Ac.4458A>C (p.Lys1486Asn)
c.4302A>C (p.Lys1434Asn)
c.4425A>C (p.Lys1475Asn)
n.835A>C
n.611+4587T>G
c.4071A>C (p.Lys1357Asn)
c.3714A>C (p.Lys1238Asn)
2g.166204406T>ACA349058247SCN1A-AS1,SCN9Ac.4457A>T (p.Lys1486Ile)
c.4301A>T (p.Lys1434Ile)
c.4424A>T (p.Lys1475Ile)
n.834A>T
n.611+4588T>A
c.4070A>T (p.Lys1357Ile)
c.3713A>T (p.Lys1238Ile)
2g.166204406T>CCA349058248SCN1A-AS1,SCN9Ac.4457A>G (p.Lys1486Arg)
c.4301A>G (p.Lys1434Arg)
c.4424A>G (p.Lys1475Arg)
n.834A>G
n.611+4588T>C
c.4070A>G (p.Lys1357Arg)
c.3713A>G (p.Lys1238Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.166204406T>GCA349058250SCN1A-AS1,SCN9Ac.4457A>C (p.Lys1486Thr)
c.4301A>C (p.Lys1434Thr)
c.4424A>C (p.Lys1475Thr)
n.834A>C
n.611+4588T>G
c.4070A>C (p.Lys1357Thr)
c.3713A>C (p.Lys1238Thr)
2g.166204406T=CA1304932145SCN1A-AS1,SCN9Ac.4457A= (p.Lys1486=)
c.4301A= (p.Lys1434=)
c.4424A= (p.Lys1475=)
n.834A=
n.611+4588T=
c.4070A= (p.Lys1357=)
c.3713A= (p.Lys1238=)
2g.166204407T>ACA349058252SCN1A-AS1,SCN9Ac.4456A>T (p.Lys1486Ter)
c.4300A>T (p.Lys1434Ter)
c.4423A>T (p.Lys1475Ter)
n.833A>T
n.611+4589T>A
c.4069A>T (p.Lys1357Ter)
c.3712A>T (p.Lys1238Ter)
 dbSNP
2g.166204407T>CCA349058253SCN1A-AS1,SCN9Ac.4456A>G (p.Lys1486Glu)
c.4300A>G (p.Lys1434Glu)
c.4423A>G (p.Lys1475Glu)
n.833A>G
n.611+4589T>C
c.4069A>G (p.Lys1357Glu)
c.3712A>G (p.Lys1238Glu)
2g.166204407T>GCA349058255SCN1A-AS1,SCN9Ac.4456A>C (p.Lys1486Gln)
c.4300A>C (p.Lys1434Gln)
c.4423A>C (p.Lys1475Gln)
n.833A>C
n.611+4589T>G
c.4069A>C (p.Lys1357Gln)
c.3712A>C (p.Lys1238Gln)
 gnomAD v4
2g.166204407T=CA1304932146SCN1A-AS1,SCN9Ac.4456A= (p.Lys1486=)
c.4300A= (p.Lys1434=)
c.4423A= (p.Lys1475=)
n.833A=
n.611+4589T=
c.4069A= (p.Lys1357=)
c.3712A= (p.Lys1238=)
2g.166204408C>ACA349058257SCN1A-AS1,SCN9Ac.4455G>T (p.Met1485Ile)
c.4299G>T (p.Met1433Ile)
c.4422G>T (p.Met1474Ile)
n.832G>T
n.611+4590C>A
c.4068G>T (p.Met1356Ile)
c.3711G>T (p.Met1237Ile)
2g.166204408C=CA1304932147SCN1A-AS1,SCN9Ac.4455G= (p.Met1485=)
c.4299G= (p.Met1433=)
c.4422G= (p.Met1474=)
n.832G=
n.611+4590C=
c.4068G= (p.Met1356=)
c.3711G= (p.Met1237=)
2g.166204408C>GCA349058259SCN1A-AS1,SCN9Ac.4455G>C (p.Met1485Ile)
c.4299G>C (p.Met1433Ile)
c.4422G>C (p.Met1474Ile)
n.832G>C
n.611+4590C>G
c.4068G>C (p.Met1356Ile)
c.3711G>C (p.Met1237Ile)
 gnomAD v4
2g.166204408C>TCA59789521SCN1A-AS1,SCN9Ac.4455G>A (p.Met1485Ile)
c.4299G>A (p.Met1433Ile)
c.4422G>A (p.Met1474Ile)
n.832G>A
n.611+4590C>T
c.4068G>A (p.Met1356Ile)
c.3711G>A (p.Met1237Ile)
 dbSNP gnomAD v4
2g.166204409A>CCA349058261SCN1A-AS1,SCN9Ac.4454T>G (p.Met1485Arg)
c.4298T>G (p.Met1433Arg)
c.4421T>G (p.Met1474Arg)
n.831T>G
n.611+4591A>C
c.4067T>G (p.Met1356Arg)
c.3710T>G (p.Met1237Arg)
2g.166204409A>GCA349058262SCN1A-AS1,SCN9Ac.4454T>C (p.Met1485Thr)
c.4298T>C (p.Met1433Thr)
c.4421T>C (p.Met1474Thr)
n.831T>C
n.611+4591A>G
c.4067T>C (p.Met1356Thr)
c.3710T>C (p.Met1237Thr)
2g.166204409A>TCA349058263SCN1A-AS1,SCN9Ac.4454T>A (p.Met1485Lys)
c.4298T>A (p.Met1433Lys)
c.4421T>A (p.Met1474Lys)
n.831T>A
n.611+4591A>T
c.4067T>A (p.Met1356Lys)
c.3710T>A (p.Met1237Lys)
2g.166204410T>ACA349058265SCN1A-AS1,SCN9Ac.4453A>T (p.Met1485Leu)
c.4297A>T (p.Met1433Leu)
c.4420A>T (p.Met1474Leu)
n.830A>T
n.611+4592T>A
c.4066A>T (p.Met1356Leu)
c.3709A>T (p.Met1237Leu)
2g.166204410T>CCA349058266SCN1A-AS1,SCN9Ac.4453A>G (p.Met1485Val)
c.4297A>G (p.Met1433Val)
c.4420A>G (p.Met1474Val)
n.830A>G
n.611+4592T>C
c.4066A>G (p.Met1356Val)
c.3709A>G (p.Met1237Val)
 gnomAD v4
2g.166204410T>GCA349058264SCN1A-AS1,SCN9Ac.4453A>C (p.Met1485Leu)
c.4297A>C (p.Met1433Leu)
c.4420A>C (p.Met1474Leu)
n.830A>C
n.611+4592T>G
c.4066A>C (p.Met1356Leu)
c.3709A>C (p.Met1237Leu)
2g.166204411T>ACA429893552SCN1A-AS1,SCN9Ac.4452A>T (p.Ala1484=)
c.4296A>T (p.Ala1432=)
c.4419A>T (p.Ala1473=)
n.829A>T
n.611+4593T>A
c.4065A>T (p.Ala1355=)
c.3708A>T (p.Ala1236=)
2g.166204411T>CCA429893553SCN1A-AS1,SCN9Ac.4452A>G (p.Ala1484=)
c.4296A>G (p.Ala1432=)
c.4419A>G (p.Ala1473=)
n.829A>G
n.611+4593T>C
c.4065A>G (p.Ala1355=)
c.3708A>G (p.Ala1236=)
2g.166204411T>GCA429893554SCN1A-AS1,SCN9Ac.4452A>C (p.Ala1484=)
c.4296A>C (p.Ala1432=)
c.4419A>C (p.Ala1473=)
n.829A>C
n.611+4593T>G
c.4065A>C (p.Ala1355=)
c.3708A>C (p.Ala1236=)
 ClinVar dbSNP gnomAD v4
2g.166204412G>ACA349058267SCN1A-AS1,SCN9Ac.4451C>T (p.Ala1484Val)
c.4295C>T (p.Ala1432Val)
c.4418C>T (p.Ala1473Val)
n.828C>T
n.611+4594G>A
c.4064C>T (p.Ala1355Val)
c.3707C>T (p.Ala1236Val)
2g.166204412G>CCA349058268SCN1A-AS1,SCN9Ac.4451C>G (p.Ala1484Gly)
c.4295C>G (p.Ala1432Gly)
c.4418C>G (p.Ala1473Gly)
n.828C>G
n.611+4594G>C
c.4064C>G (p.Ala1355Gly)
c.3707C>G (p.Ala1236Gly)
2g.166204412G=CA1304932148SCN1A-AS1,SCN9Ac.4451C= (p.Ala1484=)
c.4295C= (p.Ala1432=)
c.4418C= (p.Ala1473=)
n.828C=
n.611+4594G=
c.4064C= (p.Ala1355=)
c.3707C= (p.Ala1236=)
2g.166204412G>TCA349058269SCN1A-AS1,SCN9Ac.4451C>A (p.Ala1484Glu)
c.4295C>A (p.Ala1432Glu)
c.4418C>A (p.Ala1473Glu)
n.828C>A
n.611+4594G>T
c.4064C>A (p.Ala1355Glu)
c.3707C>A (p.Ala1236Glu)
 ClinVar dbSNP
2g.166204413C>ACA349058272SCN1A-AS1,SCN9Ac.4450G>T (p.Ala1484Ser)
c.4294G>T (p.Ala1432Ser)
c.4417G>T (p.Ala1473Ser)
n.827G>T
n.611+4595C>A
c.4063G>T (p.Ala1355Ser)
c.3706G>T (p.Ala1236Ser)
2g.166204413C>GCA349058273SCN1A-AS1,SCN9Ac.4450G>C (p.Ala1484Pro)
c.4294G>C (p.Ala1432Pro)
c.4417G>C (p.Ala1473Pro)
n.827G>C
n.611+4595C>G
c.4063G>C (p.Ala1355Pro)
c.3706G>C (p.Ala1236Pro)
2g.166204413C>TCA349058275SCN1A-AS1,SCN9Ac.4450G>A (p.Ala1484Thr)
c.4294G>A (p.Ala1432Thr)
c.4417G>A (p.Ala1473Thr)
n.827G>A
n.611+4595C>T
c.4063G>A (p.Ala1355Thr)
c.3706G>A (p.Ala1236Thr)
2g.166204414A>CCA349058278SCN1A-AS1,SCN9Ac.4449T>G (p.Asn1483Lys)
c.4293T>G (p.Asn1431Lys)
c.4416T>G (p.Asn1472Lys)
n.826T>G
n.611+4596A>C
c.4062T>G (p.Asn1354Lys)
c.3705T>G (p.Asn1235Lys)
2g.166204414A>GCA429893555SCN1A-AS1,SCN9Ac.4449T>C (p.Asn1483=)
c.4293T>C (p.Asn1431=)
c.4416T>C (p.Asn1472=)
n.826T>C
n.611+4596A>G
c.4062T>C (p.Asn1354=)
c.3705T>C (p.Asn1235=)
 ClinVar dbSNP gnomAD v4
2g.166204414A>TCA349058276SCN1A-AS1,SCN9Ac.4449T>A (p.Asn1483Lys)
c.4293T>A (p.Asn1431Lys)
c.4416T>A (p.Asn1472Lys)
n.826T>A
n.611+4596A>T
c.4062T>A (p.Asn1354Lys)
c.3705T>A (p.Asn1235Lys)
2g.166204415T>ACA349058280SCN1A-AS1,SCN9Ac.4448A>T (p.Asn1483Ile)
c.4292A>T (p.Asn1431Ile)
c.4415A>T (p.Asn1472Ile)
n.825A>T
n.611+4597T>A
c.4061A>T (p.Asn1354Ile)
c.3704A>T (p.Asn1235Ile)
2g.166204415T>CCA349058282SCN1A-AS1,SCN9Ac.4448A>G (p.Asn1483Ser)
c.4292A>G (p.Asn1431Ser)
c.4415A>G (p.Asn1472Ser)
n.825A>G
n.611+4597T>C
c.4061A>G (p.Asn1354Ser)
c.3704A>G (p.Asn1235Ser)
2g.166204415T>GCA349058283SCN1A-AS1,SCN9Ac.4448A>C (p.Asn1483Thr)
c.4292A>C (p.Asn1431Thr)
c.4415A>C (p.Asn1472Thr)
n.825A>C
n.611+4597T>G
c.4061A>C (p.Asn1354Thr)
c.3704A>C (p.Asn1235Thr)
2g.166204416T>ACA349058284SCN1A-AS1,SCN9Ac.4447A>T (p.Asn1483Tyr)
c.4291A>T (p.Asn1431Tyr)
c.4414A>T (p.Asn1472Tyr)
n.824A>T
n.611+4598T>A
c.4060A>T (p.Asn1354Tyr)
c.3703A>T (p.Asn1235Tyr)
2g.166204416T>CCA349058286SCN1A-AS1,SCN9Ac.4447A>G (p.Asn1483Asp)
c.4291A>G (p.Asn1431Asp)
c.4414A>G (p.Asn1472Asp)
n.824A>G
n.611+4598T>C
c.4060A>G (p.Asn1354Asp)
c.3703A>G (p.Asn1235Asp)
2g.166204416T>GCA349058287SCN1A-AS1,SCN9Ac.4447A>C (p.Asn1483His)
c.4291A>C (p.Asn1431His)
c.4414A>C (p.Asn1472His)
n.824A>C
n.611+4598T>G
c.4060A>C (p.Asn1354His)
c.3703A>C (p.Asn1235His)
2g.166204416_166204419delinsTATACA1304932149SCN1A-AS1,SCN9Ac.4444_4447delinsTATA (p.Tyr1482=)
c.4288_4291delinsTATA (p.Tyr1430=)
c.4411_4414delinsTATA (p.Tyr1471=)
n.821_824delinsTATA
n.611+4598_611+4601delinsTATA
c.4057_4060delinsTATA (p.Tyr1353=)
c.3700_3703delinsTATA (p.Tyr1234=)
2g.166204417A=CA1304932150SCN1A-AS1,SCN9Ac.4446T= (p.Tyr1482=)
c.4290T= (p.Tyr1430=)
c.4413T= (p.Tyr1471=)
n.823T=
n.611+4599A=
c.4059T= (p.Tyr1353=)
c.3702T= (p.Tyr1234=)
2g.166204417A>CCA349058289SCN1A-AS1,SCN9Ac.4446T>G (p.Tyr1482Ter)
c.4290T>G (p.Tyr1430Ter)
c.4413T>G (p.Tyr1471Ter)
n.823T>G
n.611+4599A>C
c.4059T>G (p.Tyr1353Ter)
c.3702T>G (p.Tyr1234Ter)
2g.166204417A>GCA1943869SCN1A-AS1,SCN9Ac.4446T>C (p.Tyr1482=)
c.4290T>C (p.Tyr1430=)
c.4413T>C (p.Tyr1471=)
n.823T>C
n.611+4599A>G
c.4059T>C (p.Tyr1353=)
c.3702T>C (p.Tyr1234=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166204417A>TCA349058292SCN1A-AS1,SCN9Ac.4446T>A (p.Tyr1482Ter)
c.4290T>A (p.Tyr1430Ter)
c.4413T>A (p.Tyr1471Ter)
n.823T>A
n.611+4599A>T
c.4059T>A (p.Tyr1353Ter)
c.3702T>A (p.Tyr1234Ter)
2g.166204417_166204419delCA1943868SCN1A-AS1,SCN9Ac.4444_4446del (p.Tyr1482del)
c.4288_4290del (p.Tyr1430del)
c.4411_4413del (p.Tyr1471del)
n.821_823del
n.611+4599_611+4601del
c.4057_4059del (p.Tyr1353del)
c.3700_3702del (p.Tyr1234del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166204418T>ACA349058295SCN1A-AS1,SCN9Ac.4445A>T (p.Tyr1482Phe)
c.4289A>T (p.Tyr1430Phe)
c.4412A>T (p.Tyr1471Phe)
n.822A>T
n.611+4600T>A
c.4058A>T (p.Tyr1353Phe)
c.3701A>T (p.Tyr1234Phe)
2g.166204418T>CCA349058297SCN1A-AS1,SCN9Ac.4445A>G (p.Tyr1482Cys)
c.4289A>G (p.Tyr1430Cys)
c.4412A>G (p.Tyr1471Cys)
n.822A>G
n.611+4600T>C
c.4058A>G (p.Tyr1353Cys)
c.3701A>G (p.Tyr1234Cys)
 gnomAD v4
2g.166204418T>GCA349058299SCN1A-AS1,SCN9Ac.4445A>C (p.Tyr1482Ser)
c.4289A>C (p.Tyr1430Ser)
c.4412A>C (p.Tyr1471Ser)
n.822A>C
n.611+4600T>G
c.4058A>C (p.Tyr1353Ser)
c.3701A>C (p.Tyr1234Ser)
2g.166204419A=CA1304932151SCN1A-AS1,SCN9Ac.4444T= (p.Tyr1482=)
c.4288T= (p.Tyr1430=)
c.4411T= (p.Tyr1471=)
n.821T=
n.611+4601A=
c.4057T= (p.Tyr1353=)
c.3700T= (p.Tyr1234=)
2g.166204419A>CCA349058300SCN1A-AS1,SCN9Ac.4444T>G (p.Tyr1482Asp)
c.4288T>G (p.Tyr1430Asp)
c.4411T>G (p.Tyr1471Asp)
n.821T>G
n.611+4601A>C
c.4057T>G (p.Tyr1353Asp)
c.3700T>G (p.Tyr1234Asp)
2g.166204419A>GCA349058302SCN1A-AS1,SCN9Ac.4444T>C (p.Tyr1482His)
c.4288T>C (p.Tyr1430His)
c.4411T>C (p.Tyr1471His)
n.821T>C
n.611+4601A>G
c.4057T>C (p.Tyr1353His)
c.3700T>C (p.Tyr1234His)
 dbSNP gnomAD v2 gnomAD v4
2g.166204419A>TCA349058304SCN1A-AS1,SCN9Ac.4444T>A (p.Tyr1482Asn)
c.4288T>A (p.Tyr1430Asn)
c.4411T>A (p.Tyr1471Asn)
n.821T>A
n.611+4601A>T
c.4057T>A (p.Tyr1353Asn)
c.3700T>A (p.Tyr1234Asn)
2g.166204420G>ACA429893557SCN1A-AS1,SCN9Ac.4443C>T (p.Tyr1481=)
c.4287C>T (p.Tyr1429=)
c.4410C>T (p.Tyr1470=)
n.820C>T
n.611+4602G>A
c.4056C>T (p.Tyr1352=)
c.3699C>T (p.Tyr1233=)
 gnomAD v4
2g.166204420G>CCA349058305SCN1A-AS1,SCN9Ac.4443C>G (p.Tyr1481Ter)
c.4287C>G (p.Tyr1429Ter)
c.4410C>G (p.Tyr1470Ter)
n.820C>G
n.611+4602G>C
c.4056C>G (p.Tyr1352Ter)
c.3699C>G (p.Tyr1233Ter)
2g.166204420G>TCA349058306SCN1A-AS1,SCN9Ac.4443C>A (p.Tyr1481Ter)
c.4287C>A (p.Tyr1429Ter)
c.4410C>A (p.Tyr1470Ter)
n.820C>A
n.611+4602G>T
c.4056C>A (p.Tyr1352Ter)
c.3699C>A (p.Tyr1233Ter)
2g.166204421T>ACA349058308SCN1A-AS1,SCN9Ac.4442A>T (p.Tyr1481Phe)
c.4286A>T (p.Tyr1429Phe)
c.4409A>T (p.Tyr1470Phe)
n.819A>T
n.611+4603T>A
c.4055A>T (p.Tyr1352Phe)
c.3698A>T (p.Tyr1233Phe)
2g.166204421T>CCA349058309SCN1A-AS1,SCN9Ac.4442A>G (p.Tyr1481Cys)
c.4286A>G (p.Tyr1429Cys)
c.4409A>G (p.Tyr1470Cys)
n.819A>G
n.611+4603T>C
c.4055A>G (p.Tyr1352Cys)
c.3698A>G (p.Tyr1233Cys)
2g.166204421T>GCA349058310SCN1A-AS1,SCN9Ac.4442A>C (p.Tyr1481Ser)
c.4286A>C (p.Tyr1429Ser)
c.4409A>C (p.Tyr1470Ser)
n.819A>C
n.611+4603T>G
c.4055A>C (p.Tyr1352Ser)
c.3698A>C (p.Tyr1233Ser)
2g.166204422A=CA1304932152SCN1A-AS1,SCN9Ac.4441T= (p.Tyr1481=)
c.4285T= (p.Tyr1429=)
c.4408T= (p.Tyr1470=)
n.818T=
n.611+4604A=
c.4054T= (p.Tyr1352=)
c.3697T= (p.Tyr1233=)
2g.166204422A>CCA349058313SCN1A-AS1,SCN9Ac.4441T>G (p.Tyr1481Asp)
c.4285T>G (p.Tyr1429Asp)
c.4408T>G (p.Tyr1470Asp)
n.818T>G
n.611+4604A>C
c.4054T>G (p.Tyr1352Asp)
c.3697T>G (p.Tyr1233Asp)
2g.166204422A>GCA349058316SCN1A-AS1,SCN9Ac.4441T>C (p.Tyr1481His)
c.4285T>C (p.Tyr1429His)
c.4408T>C (p.Tyr1470His)
n.818T>C
n.611+4604A>G
c.4054T>C (p.Tyr1352His)
c.3697T>C (p.Tyr1233His)
 ClinVar dbSNP
2g.166204422A>TCA349058315SCN1A-AS1,SCN9Ac.4441T>A (p.Tyr1481Asn)
c.4285T>A (p.Tyr1429Asn)
c.4408T>A (p.Tyr1470Asn)
n.818T>A
n.611+4604A>T
c.4054T>A (p.Tyr1352Asn)
c.3697T>A (p.Tyr1233Asn)
2g.166204423T>ACA349058317SCN1A-AS1,SCN9Ac.4440A>T (p.Lys1480Asn)
c.4284A>T (p.Lys1428Asn)
c.4407A>T (p.Lys1469Asn)
n.817A>T
n.611+4605T>A
c.4053A>T (p.Lys1351Asn)
c.3696A>T (p.Lys1232Asn)
2g.166204423T>CCA429893562SCN1A-AS1,SCN9Ac.4440A>G (p.Lys1480=)
c.4284A>G (p.Lys1428=)
c.4407A>G (p.Lys1469=)
n.817A>G
n.611+4605T>C
c.4053A>G (p.Lys1351=)
c.3696A>G (p.Lys1232=)
2g.166204423T>GCA349058318SCN1A-AS1,SCN9Ac.4440A>C (p.Lys1480Asn)
c.4284A>C (p.Lys1428Asn)
c.4407A>C (p.Lys1469Asn)
n.817A>C
n.611+4605T>G
c.4053A>C (p.Lys1351Asn)
c.3696A>C (p.Lys1232Asn)
2g.166204423_166204426delinsTTTCCA1304932153SCN1A-AS1,SCN9Ac.4437_4440delinsGAAA (p.Lys1479=)
c.4281_4284delinsGAAA (p.Lys1427=)
c.4404_4407delinsGAAA (p.Lys1468=)
n.814_817delinsGAAA
n.611+4605_611+4608delinsTTTC
c.4050_4053delinsGAAA (p.Lys1350=)
c.3693_3696delinsGAAA (p.Lys1231=)
2g.166204424T>ACA349058321SCN1A-AS1,SCN9Ac.4439A>T (p.Lys1480Ile)
c.4283A>T (p.Lys1428Ile)
c.4406A>T (p.Lys1469Ile)
n.816A>T
n.611+4606T>A
c.4052A>T (p.Lys1351Ile)
c.3695A>T (p.Lys1232Ile)
2g.166204424T>CCA349058322SCN1A-AS1,SCN9Ac.4439A>G (p.Lys1480Arg)
c.4283A>G (p.Lys1428Arg)
c.4406A>G (p.Lys1469Arg)
n.816A>G
n.611+4606T>C
c.4052A>G (p.Lys1351Arg)
c.3695A>G (p.Lys1232Arg)
 gnomAD v4
2g.166204424T>GCA349058324SCN1A-AS1,SCN9Ac.4439A>C (p.Lys1480Thr)
c.4283A>C (p.Lys1428Thr)
c.4406A>C (p.Lys1469Thr)
n.816A>C
n.611+4606T>G
c.4052A>C (p.Lys1351Thr)
c.3695A>C (p.Lys1232Thr)
2g.166204428_166204430delCA10612802SCN1A-AS1,SCN9Ac.4437_4439del (p.Lys1480del)
c.4281_4283del (p.Lys1428del)
c.4404_4406del (p.Lys1469del)
n.814_816del
n.611+4610_611+4612del
c.4050_4052del (p.Lys1351del)
c.3693_3695del (p.Lys1232del)
 ClinVar dbSNP
2g.166204425T>ACA349058330SCN1A-AS1,SCN9Ac.4438A>T (p.Lys1480Ter)
c.4282A>T (p.Lys1428Ter)
c.4405A>T (p.Lys1469Ter)
n.815A>T
n.611+4607T>A
c.4051A>T (p.Lys1351Ter)
c.3694A>T (p.Lys1232Ter)
 dbSNP
2g.166204425T>CCA349058328SCN1A-AS1,SCN9Ac.4438A>G (p.Lys1480Glu)
c.4282A>G (p.Lys1428Glu)
c.4405A>G (p.Lys1469Glu)
n.815A>G
n.611+4607T>C
c.4051A>G (p.Lys1351Glu)
c.3694A>G (p.Lys1232Glu)
2g.166204425T>GCA349058326SCN1A-AS1,SCN9Ac.4438A>C (p.Lys1480Gln)
c.4282A>C (p.Lys1428Gln)
c.4405A>C (p.Lys1469Gln)
n.815A>C
n.611+4607T>G
c.4051A>C (p.Lys1351Gln)
c.3694A>C (p.Lys1232Gln)
2g.166204425T=CA1304932154SCN1A-AS1,SCN9Ac.4438A= (p.Lys1480=)
c.4282A= (p.Lys1428=)
c.4405A= (p.Lys1469=)
n.815A=
n.611+4607T=
c.4051A= (p.Lys1351=)
c.3694A= (p.Lys1232=)
2g.166204426C>ACA349058332SCN1A-AS1,SCN9Ac.4437G>T (p.Lys1479Asn)
c.4281G>T (p.Lys1427Asn)
c.4404G>T (p.Lys1468Asn)
n.814G>T
n.611+4608C>A
c.4050G>T (p.Lys1350Asn)
c.3693G>T (p.Lys1231Asn)
 gnomAD v4
2g.166204426C=CA1304932155SCN1A-AS1,SCN9Ac.4437G= (p.Lys1479=)
c.4281G= (p.Lys1427=)
c.4404G= (p.Lys1468=)
n.814G=
n.611+4608C=
c.4050G= (p.Lys1350=)
c.3693G= (p.Lys1231=)
2g.166204426C>GCA349058334SCN1A-AS1,SCN9Ac.4437G>C (p.Lys1479Asn)
c.4281G>C (p.Lys1427Asn)
c.4404G>C (p.Lys1468Asn)
n.814G>C
n.611+4608C>G
c.4050G>C (p.Lys1350Asn)
c.3693G>C (p.Lys1231Asn)
2g.166204426C>TCA59789576SCN1A-AS1,SCN9Ac.4437G>A (p.Lys1479=)
c.4281G>A (p.Lys1427=)
c.4404G>A (p.Lys1468=)
n.814G>A
n.611+4608C>T
c.4050G>A (p.Lys1350=)
c.3693G>A (p.Lys1231=)
 dbSNP COSMIC
2g.166204427T>ACA349058336SCN1A-AS1,SCN9Ac.4436A>T (p.Lys1479Met)
c.4280A>T (p.Lys1427Met)
c.4403A>T (p.Lys1468Met)
n.813A>T
n.611+4609T>A
c.4049A>T (p.Lys1350Met)
c.3692A>T (p.Lys1231Met)
2g.166204427T>CCA349058337SCN1A-AS1,SCN9Ac.4436A>G (p.Lys1479Arg)
c.4280A>G (p.Lys1427Arg)
c.4403A>G (p.Lys1468Arg)
n.813A>G
n.611+4609T>C
c.4049A>G (p.Lys1350Arg)
c.3692A>G (p.Lys1231Arg)
 gnomAD v4
2g.166204427T>GCA349058339SCN1A-AS1,SCN9Ac.4436A>C (p.Lys1479Thr)
c.4280A>C (p.Lys1427Thr)
c.4403A>C (p.Lys1468Thr)
n.813A>C
n.611+4609T>G
c.4049A>C (p.Lys1350Thr)
c.3692A>C (p.Lys1231Thr)
2g.166204428T>ACA349058344SCN1A-AS1,SCN9Ac.4435A>T (p.Lys1479Ter)
c.4279A>T (p.Lys1427Ter)
c.4402A>T (p.Lys1468Ter)
n.812A>T
n.611+4610T>A
c.4048A>T (p.Lys1350Ter)
c.3691A>T (p.Lys1231Ter)
2g.166204428T>CCA349058340SCN1A-AS1,SCN9Ac.4435A>G (p.Lys1479Glu)
c.4279A>G (p.Lys1427Glu)
c.4402A>G (p.Lys1468Glu)
n.812A>G
n.611+4610T>C
c.4048A>G (p.Lys1350Glu)
c.3691A>G (p.Lys1231Glu)
2g.166204428T>GCA349058342SCN1A-AS1,SCN9Ac.4435A>C (p.Lys1479Gln)
c.4279A>C (p.Lys1427Gln)
c.4402A>C (p.Lys1468Gln)
n.812A>C
n.611+4610T>G
c.4048A>C (p.Lys1350Gln)
c.3691A>C (p.Lys1231Gln)
2g.166204429C>ACA349058346SCN1A-AS1,SCN9Ac.4434G>T (p.Gln1478His)
c.4278G>T (p.Gln1426His)
c.4401G>T (p.Gln1467His)
n.811G>T
n.611+4611C>A
c.4047G>T (p.Gln1349His)
c.3690G>T (p.Gln1230His)
 gnomAD v3 gnomAD v4
2g.166204429C>GCA349058347SCN1A-AS1,SCN9Ac.4434G>C (p.Gln1478His)
c.4278G>C (p.Gln1426His)
c.4401G>C (p.Gln1467His)
n.811G>C
n.611+4611C>G
c.4047G>C (p.Gln1349His)
c.3690G>C (p.Gln1230His)
2g.166204429C>TCA429893567SCN1A-AS1,SCN9Ac.4434G>A (p.Gln1478=)
c.4278G>A (p.Gln1426=)
c.4401G>A (p.Gln1467=)
n.811G>A
n.611+4611C>T
c.4047G>A (p.Gln1349=)
c.3690G>A (p.Gln1230=)
 ClinVar dbSNP gnomAD v4
2g.166204430T>ACA349058349SCN1A-AS1,SCN9Ac.4433A>T (p.Gln1478Leu)
c.4277A>T (p.Gln1426Leu)
c.4400A>T (p.Gln1467Leu)
n.810A>T
n.611+4612T>A
c.4046A>T (p.Gln1349Leu)
c.3689A>T (p.Gln1230Leu)
2g.166204430T>CCA349058351SCN1A-AS1,SCN9Ac.4433A>G (p.Gln1478Arg)
c.4277A>G (p.Gln1426Arg)
c.4400A>G (p.Gln1467Arg)
n.810A>G
n.611+4612T>C
c.4046A>G (p.Gln1349Arg)
c.3689A>G (p.Gln1230Arg)
2g.166204430T>GCA349058352SCN1A-AS1,SCN9Ac.4433A>C (p.Gln1478Pro)
c.4277A>C (p.Gln1426Pro)
c.4400A>C (p.Gln1467Pro)
n.810A>C
n.611+4612T>G
c.4046A>C (p.Gln1349Pro)
c.3689A>C (p.Gln1230Pro)
 gnomAD v4
2g.166204431G>ACA349058354SCN1A-AS1,SCN9Ac.4432C>T (p.Gln1478Ter)
c.4276C>T (p.Gln1426Ter)
c.4399C>T (p.Gln1467Ter)
n.809C>T
n.611+4613G>A
c.4045C>T (p.Gln1349Ter)
c.3688C>T (p.Gln1230Ter)
 dbSNP
2g.166204431G>CCA349058356SCN1A-AS1,SCN9Ac.4432C>G (p.Gln1478Glu)
c.4276C>G (p.Gln1426Glu)
c.4399C>G (p.Gln1467Glu)
n.809C>G
n.611+4613G>C
c.4045C>G (p.Gln1349Glu)
c.3688C>G (p.Gln1230Glu)
2g.166204431G=CA1304932156SCN1A-AS1,SCN9Ac.4432C= (p.Gln1478=)
c.4276C= (p.Gln1426=)
c.4399C= (p.Gln1467=)
n.809C=
n.611+4613G=
c.4045C= (p.Gln1349=)
c.3688C= (p.Gln1230=)
2g.166204431G>TCA349058357SCN1A-AS1,SCN9Ac.4432C>A (p.Gln1478Lys)
c.4276C>A (p.Gln1426Lys)
c.4399C>A (p.Gln1467Lys)
n.809C>A
n.611+4613G>T
c.4045C>A (p.Gln1349Lys)
c.3688C>A (p.Gln1230Lys)
2g.166204432T>ACA349058358SCN1A-AS1,SCN9Ac.4431A>T (p.Glu1477Asp)
c.4275A>T (p.Glu1425Asp)
c.4398A>T (p.Glu1466Asp)
n.808A>T
n.611+4614T>A
c.4044A>T (p.Glu1348Asp)
c.3687A>T (p.Glu1229Asp)
2g.166204432T>CCA429893569SCN1A-AS1,SCN9Ac.4431A>G (p.Glu1477=)
c.4275A>G (p.Glu1425=)
c.4398A>G (p.Glu1466=)
n.808A>G
n.611+4614T>C
c.4044A>G (p.Glu1348=)
c.3687A>G (p.Glu1229=)
2g.166204432T>GCA349058359SCN1A-AS1,SCN9Ac.4431A>C (p.Glu1477Asp)
c.4275A>C (p.Glu1425Asp)
c.4398A>C (p.Glu1466Asp)
n.808A>C
n.611+4614T>G
c.4044A>C (p.Glu1348Asp)
c.3687A>C (p.Glu1229Asp)
2g.166204433T>ACA349058361SCN1A-AS1,SCN9Ac.4430A>T (p.Glu1477Val)
c.4274A>T (p.Glu1425Val)
c.4397A>T (p.Glu1466Val)
n.807A>T
n.611+4615T>A
c.4043A>T (p.Glu1348Val)
c.3686A>T (p.Glu1229Val)
 ClinVar dbSNP
2g.166204433T>CCA349058362SCN1A-AS1,SCN9Ac.4430A>G (p.Glu1477Gly)
c.4274A>G (p.Glu1425Gly)
c.4397A>G (p.Glu1466Gly)
n.807A>G
n.611+4615T>C
c.4043A>G (p.Glu1348Gly)
c.3686A>G (p.Glu1229Gly)
2g.166204433T>GCA349058364SCN1A-AS1,SCN9Ac.4430A>C (p.Glu1477Ala)
c.4274A>C (p.Glu1425Ala)
c.4397A>C (p.Glu1466Ala)
n.807A>C
n.611+4615T>G
c.4043A>C (p.Glu1348Ala)
c.3686A>C (p.Glu1229Ala)
2g.166204433T=CA1304932157SCN1A-AS1,SCN9Ac.4430A= (p.Glu1477=)
c.4274A= (p.Glu1425=)
c.4397A= (p.Glu1466=)
n.807A=
n.611+4615T=
c.4043A= (p.Glu1348=)
c.3686A= (p.Glu1229=)
2g.166204434C>ACA349058366SCN1A-AS1,SCN9Ac.4429G>T (p.Glu1477Ter)
c.4273G>T (p.Glu1425Ter)
c.4396G>T (p.Glu1466Ter)
n.806G>T
n.611+4616C>A
c.4042G>T (p.Glu1348Ter)
c.3685G>T (p.Glu1229Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.166204434C=CA1304932158SCN1A-AS1,SCN9Ac.4429G= (p.Glu1477=)
c.4273G= (p.Glu1425=)
c.4396G= (p.Glu1466=)
n.806G=
n.611+4616C=
c.4042G= (p.Glu1348=)
c.3685G= (p.Glu1229=)
2g.166204434C>GCA349058370SCN1A-AS1,SCN9Ac.4429G>C (p.Glu1477Gln)
c.4273G>C (p.Glu1425Gln)
c.4396G>C (p.Glu1466Gln)
n.806G>C
n.611+4616C>G
c.4042G>C (p.Glu1348Gln)
c.3685G>C (p.Glu1229Gln)
2g.166204434C>TCA349058368SCN1A-AS1,SCN9Ac.4429G>A (p.Glu1477Lys)
c.4273G>A (p.Glu1425Lys)
c.4396G>A (p.Glu1466Lys)
n.806G>A
n.611+4616C>T
c.4042G>A (p.Glu1348Lys)
c.3685G>A (p.Glu1229Lys)
 gnomAD v4
2g.166204435T>ACA349058371SCN1A-AS1,SCN9Ac.4428A>T (p.Glu1476Asp)
c.4272A>T (p.Glu1424Asp)
c.4395A>T (p.Glu1465Asp)
n.805A>T
n.611+4617T>A
c.4041A>T (p.Glu1347Asp)
c.3684A>T (p.Glu1228Asp)
2g.166204435T>CCA429893571SCN1A-AS1,SCN9Ac.4428A>G (p.Glu1476=)
c.4272A>G (p.Glu1424=)
c.4395A>G (p.Glu1465=)
n.805A>G
n.611+4617T>C
c.4041A>G (p.Glu1347=)
c.3684A>G (p.Glu1228=)
2g.166204435T>GCA1943870SCN1A-AS1,SCN9Ac.4428A>C (p.Glu1476Asp)
c.4272A>C (p.Glu1424Asp)
c.4395A>C (p.Glu1465Asp)
n.805A>C
n.611+4617T>G
c.4041A>C (p.Glu1347Asp)
c.3684A>C (p.Glu1228Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166204435T=CA1304932159SCN1A-AS1,SCN9Ac.4428A= (p.Glu1476=)
c.4272A= (p.Glu1424=)
c.4395A= (p.Glu1465=)
n.805A=
n.611+4617T=
c.4041A= (p.Glu1347=)
c.3684A= (p.Glu1228=)
2g.166204435_166204436delCA2661764445SCN1A-AS1,SCN9Ac.4427_4428del (p.Glu1476GlyfsTer7)
c.4271_4272del (p.Glu1424GlyfsTer7)
c.4394_4395del (p.Glu1465GlyfsTer7)
n.804_805del
n.611+4617_611+4618del
c.4040_4041del (p.Glu1347GlyfsTer7)
c.3683_3684del (p.Glu1228GlyfsTer7)
 gnomAD v4
2g.166204435_166204439delinsTTCTGCA1304932160SCN1A-AS1,SCN9Ac.4424_4428delinsCAGAA (p.Thr1475=)
c.4268_4272delinsCAGAA (p.Thr1423=)
c.4391_4395delinsCAGAA (p.Thr1464=)
n.801_805delinsCAGAA
n.611+4617_611+4621delinsTTCTG
c.4037_4041delinsCAGAA (p.Thr1346=)
c.3680_3684delinsCAGAA (p.Thr1227=)
2g.166204436T>ACA349058375SCN1A-AS1,SCN9Ac.4427A>T (p.Glu1476Val)
c.4271A>T (p.Glu1424Val)
c.4394A>T (p.Glu1465Val)
n.804A>T
n.611+4618T>A
c.4040A>T (p.Glu1347Val)
c.3683A>T (p.Glu1228Val)
2g.166204436T>CCA349058376SCN1A-AS1,SCN9Ac.4427A>G (p.Glu1476Gly)
c.4271A>G (p.Glu1424Gly)
c.4394A>G (p.Glu1465Gly)
n.804A>G
n.611+4618T>C
c.4040A>G (p.Glu1347Gly)
c.3683A>G (p.Glu1228Gly)
2g.166204436T>GCA349058377SCN1A-AS1,SCN9Ac.4427A>C (p.Glu1476Ala)
c.4271A>C (p.Glu1424Ala)
c.4394A>C (p.Glu1465Ala)
n.804A>C
n.611+4618T>G
c.4040A>C (p.Glu1347Ala)
c.3683A>C (p.Glu1228Ala)
2g.166204438_166204441delCA915941083SCN1A-AS1,SCN9Ac.4424_4427del (p.Thr1475LysfsTer10)
c.4268_4271del (p.Thr1423LysfsTer10)
c.4391_4394del (p.Thr1464LysfsTer10)
n.801_804del
n.611+4620_611+4623del
c.4037_4040del (p.Thr1346LysfsTer10)
c.3680_3683del (p.Thr1227LysfsTer10)
 ClinVar dbSNP
2g.166204437C>ACA349058381SCN1A-AS1,SCN9Ac.4426G>T (p.Glu1476Ter)
c.4270G>T (p.Glu1424Ter)
c.4393G>T (p.Glu1465Ter)
n.803G>T
n.611+4619C>A
c.4039G>T (p.Glu1347Ter)
c.3682G>T (p.Glu1228Ter)
 dbSNP gnomAD v4
2g.166204437C=CA1304932161SCN1A-AS1,SCN9Ac.4426G= (p.Glu1476=)
c.4270G= (p.Glu1424=)
c.4393G= (p.Glu1465=)
n.803G=
n.611+4619C=
c.4039G= (p.Glu1347=)
c.3682G= (p.Glu1228=)
2g.166204437C>GCA349058379SCN1A-AS1,SCN9Ac.4426G>C (p.Glu1476Gln)
c.4270G>C (p.Glu1424Gln)
c.4393G>C (p.Glu1465Gln)
n.803G>C
n.611+4619C>G
c.4039G>C (p.Glu1347Gln)
c.3682G>C (p.Glu1228Gln)
2g.166204437C>TCA349058378SCN1A-AS1,SCN9Ac.4426G>A (p.Glu1476Lys)
c.4270G>A (p.Glu1424Lys)
c.4393G>A (p.Glu1465Lys)
n.803G>A
n.611+4619C>T
c.4039G>A (p.Glu1347Lys)
c.3682G>A (p.Glu1228Lys)
2g.166204438T>ACA429893575SCN1A-AS1,SCN9Ac.4425A>T (p.Thr1475=)
c.4269A>T (p.Thr1423=)
c.4392A>T (p.Thr1464=)
n.802A>T
n.611+4620T>A
c.4038A>T (p.Thr1346=)
c.3681A>T (p.Thr1227=)
 gnomAD v4
2g.166204438T>CCA429893576SCN1A-AS1,SCN9Ac.4425A>G (p.Thr1475=)
c.4269A>G (p.Thr1423=)
c.4392A>G (p.Thr1464=)
n.802A>G
n.611+4620T>C
c.4038A>G (p.Thr1346=)
c.3681A>G (p.Thr1227=)
 gnomAD v4
2g.166204438T>GCA429893577SCN1A-AS1,SCN9Ac.4425A>C (p.Thr1475=)
c.4269A>C (p.Thr1423=)
c.4392A>C (p.Thr1464=)
n.802A>C
n.611+4620T>G
c.4038A>C (p.Thr1346=)
c.3681A>C (p.Thr1227=)
2g.166204439G>ACA118155SCN1A-AS1,SCN9Ac.4424C>T (p.Thr1475Ile)
c.4268C>T (p.Thr1423Ile)
c.4391C>T (p.Thr1464Ile)
n.801C>T
n.611+4621G>A
c.4037C>T (p.Thr1346Ile)
c.3680C>T (p.Thr1227Ile)
 ClinVar dbSNP gnomAD v4
2g.166204439G>CCA349058384SCN1A-AS1,SCN9Ac.4424C>G (p.Thr1475Arg)
c.4268C>G (p.Thr1423Arg)
c.4391C>G (p.Thr1464Arg)
n.801C>G
n.611+4621G>C
c.4037C>G (p.Thr1346Arg)
c.3680C>G (p.Thr1227Arg)
 gnomAD v4
2g.166204439G=CA1304932162SCN1A-AS1,SCN9Ac.4424C= (p.Thr1475=)
c.4268C= (p.Thr1423=)
c.4391C= (p.Thr1464=)
n.801C=
n.611+4621G=
c.4037C= (p.Thr1346=)
c.3680C= (p.Thr1227=)
2g.166204439G>TCA349058386SCN1A-AS1,SCN9Ac.4424C>A (p.Thr1475Lys)
c.4268C>A (p.Thr1423Lys)
c.4391C>A (p.Thr1464Lys)
n.801C>A
n.611+4621G>T
c.4037C>A (p.Thr1346Lys)
c.3680C>A (p.Thr1227Lys)
 gnomAD v4

Number of alleles fetched