Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166198771A=CA1304929128SCN1A-AS1,SCN9Ac.5868T= (p.Pro1956=)
c.5712T= (p.Pro1904=)
c.5835T= (p.Pro1945=)
n.2245T=
n.432-868A=
c.5481T= (p.Pro1827=)
c.5124T= (p.Pro1708=)
2g.166198771A>CCA429977586SCN1A-AS1,SCN9Ac.5868T>G (p.Pro1956=)
c.5712T>G (p.Pro1904=)
c.5835T>G (p.Pro1945=)
n.2245T>G
n.432-868A>C
c.5481T>G (p.Pro1827=)
c.5124T>G (p.Pro1708=)
2g.166198771A>GCA429977587SCN1A-AS1,SCN9Ac.5868T>C (p.Pro1956=)
c.5712T>C (p.Pro1904=)
c.5835T>C (p.Pro1945=)
n.2245T>C
n.432-868A>G
c.5481T>C (p.Pro1827=)
c.5124T>C (p.Pro1708=)
2g.166198771A>TCA429977590SCN1A-AS1,SCN9Ac.5868T>A (p.Pro1956=)
c.5712T>A (p.Pro1904=)
c.5835T>A (p.Pro1945=)
n.2245T>A
n.432-868A>T
c.5481T>A (p.Pro1827=)
c.5124T>A (p.Pro1708=)
 ClinVar dbSNP gnomAD v4
2g.166198772G>ACA349051313SCN1A-AS1,SCN9Ac.5867C>T (p.Pro1956Leu)
c.5711C>T (p.Pro1904Leu)
c.5834C>T (p.Pro1945Leu)
n.2244C>T
n.432-867G>A
c.5480C>T (p.Pro1827Leu)
c.5123C>T (p.Pro1708Leu)
 gnomAD v4
2g.166198772G>CCA349051305SCN1A-AS1,SCN9Ac.5867C>G (p.Pro1956Arg)
c.5711C>G (p.Pro1904Arg)
c.5834C>G (p.Pro1945Arg)
n.2244C>G
n.432-867G>C
c.5480C>G (p.Pro1827Arg)
c.5123C>G (p.Pro1708Arg)
2g.166198772G>TCA349051311SCN1A-AS1,SCN9Ac.5867C>A (p.Pro1956His)
c.5711C>A (p.Pro1904His)
c.5834C>A (p.Pro1945His)
n.2244C>A
n.432-867G>T
c.5480C>A (p.Pro1827His)
c.5123C>A (p.Pro1708His)
2g.166198773G>ACA349051316SCN1A-AS1,SCN9Ac.5866C>T (p.Pro1956Ser)
c.5710C>T (p.Pro1904Ser)
c.5833C>T (p.Pro1945Ser)
n.2243C>T
n.432-866G>A
c.5479C>T (p.Pro1827Ser)
c.5122C>T (p.Pro1708Ser)
2g.166198773G>CCA349051318SCN1A-AS1,SCN9Ac.5866C>G (p.Pro1956Ala)
c.5710C>G (p.Pro1904Ala)
c.5833C>G (p.Pro1945Ala)
n.2243C>G
n.432-866G>C
c.5479C>G (p.Pro1827Ala)
c.5122C>G (p.Pro1708Ala)
 gnomAD v4
2g.166198773G>TCA349051320SCN1A-AS1,SCN9Ac.5866C>A (p.Pro1956Thr)
c.5710C>A (p.Pro1904Thr)
c.5833C>A (p.Pro1945Thr)
n.2243C>A
n.432-866G>T
c.5479C>A (p.Pro1827Thr)
c.5122C>A (p.Pro1708Thr)
 gnomAD v4
2g.166198774T>ACA429977593SCN1A-AS1,SCN9Ac.5865A>T (p.Pro1955=)
c.5709A>T (p.Pro1903=)
c.5832A>T (p.Pro1944=)
n.2242A>T
n.432-865T>A
c.5478A>T (p.Pro1826=)
c.5121A>T (p.Pro1707=)
2g.166198774T>CCA59782763SCN1A-AS1,SCN9Ac.5865A>G (p.Pro1955=)
c.5709A>G (p.Pro1903=)
c.5832A>G (p.Pro1944=)
n.2242A>G
n.432-865T>C
c.5478A>G (p.Pro1826=)
c.5121A>G (p.Pro1707=)
 dbSNP gnomAD v3 gnomAD v4
2g.166198774T>GCA429977594SCN1A-AS1,SCN9Ac.5865A>C (p.Pro1955=)
c.5709A>C (p.Pro1903=)
c.5832A>C (p.Pro1944=)
n.2242A>C
n.432-865T>G
c.5478A>C (p.Pro1826=)
c.5121A>C (p.Pro1707=)
2g.166198774T=CA1304929129SCN1A-AS1,SCN9Ac.5865A= (p.Pro1955=)
c.5709A= (p.Pro1903=)
c.5832A= (p.Pro1944=)
n.2242A=
n.432-865T=
c.5478A= (p.Pro1826=)
c.5121A= (p.Pro1707=)
2g.166198775G>ACA349051324SCN1A-AS1,SCN9Ac.5864C>T (p.Pro1955Leu)
c.5708C>T (p.Pro1903Leu)
c.5831C>T (p.Pro1944Leu)
n.2241C>T
n.432-864G>A
c.5477C>T (p.Pro1826Leu)
c.5120C>T (p.Pro1707Leu)
2g.166198775G>CCA349051326SCN1A-AS1,SCN9Ac.5864C>G (p.Pro1955Arg)
c.5708C>G (p.Pro1903Arg)
c.5831C>G (p.Pro1944Arg)
n.2241C>G
n.432-864G>C
c.5477C>G (p.Pro1826Arg)
c.5120C>G (p.Pro1707Arg)
2g.166198775G>TCA349051327SCN1A-AS1,SCN9Ac.5864C>A (p.Pro1955Gln)
c.5708C>A (p.Pro1903Gln)
c.5831C>A (p.Pro1944Gln)
n.2241C>A
n.432-864G>T
c.5477C>A (p.Pro1826Gln)
c.5120C>A (p.Pro1707Gln)
2g.166198776G>ACA349051328SCN1A-AS1,SCN9Ac.5863C>T (p.Pro1955Ser)
c.5707C>T (p.Pro1903Ser)
c.5830C>T (p.Pro1944Ser)
n.2240C>T
n.432-863G>A
c.5476C>T (p.Pro1826Ser)
c.5119C>T (p.Pro1707Ser)
2g.166198776G>CCA349051329SCN1A-AS1,SCN9Ac.5863C>G (p.Pro1955Ala)
c.5707C>G (p.Pro1903Ala)
c.5830C>G (p.Pro1944Ala)
n.2240C>G
n.432-863G>C
c.5476C>G (p.Pro1826Ala)
c.5119C>G (p.Pro1707Ala)
2g.166198776G>TCA349051331SCN1A-AS1,SCN9Ac.5863C>A (p.Pro1955Thr)
c.5707C>A (p.Pro1903Thr)
c.5830C>A (p.Pro1944Thr)
n.2240C>A
n.432-863G>T
c.5476C>A (p.Pro1826Thr)
c.5119C>A (p.Pro1707Thr)
 ClinVar
2g.166198777A>CCA429977598SCN1A-AS1,SCN9Ac.5862T>G (p.Ser1954=)
c.5706T>G (p.Ser1902=)
c.5829T>G (p.Ser1943=)
n.2239T>G
n.432-862A>C
c.5475T>G (p.Ser1825=)
c.5118T>G (p.Ser1706=)
2g.166198777A>GCA429977600SCN1A-AS1,SCN9Ac.5862T>C (p.Ser1954=)
c.5706T>C (p.Ser1902=)
c.5829T>C (p.Ser1943=)
n.2239T>C
n.432-862A>G
c.5475T>C (p.Ser1825=)
c.5118T>C (p.Ser1706=)
2g.166198777A>TCA429977601SCN1A-AS1,SCN9Ac.5862T>A (p.Ser1954=)
c.5706T>A (p.Ser1902=)
c.5829T>A (p.Ser1943=)
n.2239T>A
n.432-862A>T
c.5475T>A (p.Ser1825=)
c.5118T>A (p.Ser1706=)
2g.166198778G>ACA349051334SCN1A-AS1,SCN9Ac.5861C>T (p.Ser1954Phe)
c.5705C>T (p.Ser1902Phe)
c.5828C>T (p.Ser1943Phe)
n.2238C>T
n.432-861G>A
c.5474C>T (p.Ser1825Phe)
c.5117C>T (p.Ser1706Phe)
2g.166198778G>CCA349051333SCN1A-AS1,SCN9Ac.5861C>G (p.Ser1954Cys)
c.5705C>G (p.Ser1902Cys)
c.5828C>G (p.Ser1943Cys)
n.2238C>G
n.432-861G>C
c.5474C>G (p.Ser1825Cys)
c.5117C>G (p.Ser1706Cys)
2g.166198778G>TCA349051332SCN1A-AS1,SCN9Ac.5861C>A (p.Ser1954Tyr)
c.5705C>A (p.Ser1902Tyr)
c.5828C>A (p.Ser1943Tyr)
n.2238C>A
n.432-861G>T
c.5474C>A (p.Ser1825Tyr)
c.5117C>A (p.Ser1706Tyr)
2g.166198779A=CA1304929130SCN1A-AS1,SCN9Ac.5860T= (p.Ser1954=)
c.5704T= (p.Ser1902=)
c.5827T= (p.Ser1943=)
n.2237T=
n.432-860A=
c.5473T= (p.Ser1825=)
c.5116T= (p.Ser1706=)
2g.166198779A>CCA349051335SCN1A-AS1,SCN9Ac.5860T>G (p.Ser1954Ala)
c.5704T>G (p.Ser1902Ala)
c.5827T>G (p.Ser1943Ala)
n.2237T>G
n.432-860A>C
c.5473T>G (p.Ser1825Ala)
c.5116T>G (p.Ser1706Ala)
2g.166198779A>GCA349051336SCN1A-AS1,SCN9Ac.5860T>C (p.Ser1954Pro)
c.5704T>C (p.Ser1902Pro)
c.5827T>C (p.Ser1943Pro)
n.2237T>C
n.432-860A>G
c.5473T>C (p.Ser1825Pro)
c.5116T>C (p.Ser1706Pro)
 dbSNP gnomAD v4
2g.166198779A>TCA349051337SCN1A-AS1,SCN9Ac.5860T>A (p.Ser1954Thr)
c.5704T>A (p.Ser1902Thr)
c.5827T>A (p.Ser1943Thr)
n.2237T>A
n.432-860A>T
c.5473T>A (p.Ser1825Thr)
c.5116T>A (p.Ser1706Thr)
2g.166198780G>ACA429977604SCN1A-AS1,SCN9Ac.5859C>T (p.Thr1953=)
c.5703C>T (p.Thr1901=)
c.5826C>T (p.Thr1942=)
n.2236C>T
n.432-859G>A
c.5472C>T (p.Thr1824=)
c.5115C>T (p.Thr1705=)
2g.166198780G>CCA429977605SCN1A-AS1,SCN9Ac.5859C>G (p.Thr1953=)
c.5703C>G (p.Thr1901=)
c.5826C>G (p.Thr1942=)
n.2236C>G
n.432-859G>C
c.5472C>G (p.Thr1824=)
c.5115C>G (p.Thr1705=)
 dbSNP gnomAD v4
2g.166198780G=CA1304929131SCN1A-AS1,SCN9Ac.5859C= (p.Thr1953=)
c.5703C= (p.Thr1901=)
c.5826C= (p.Thr1942=)
n.2236C=
n.432-859G=
c.5472C= (p.Thr1824=)
c.5115C= (p.Thr1705=)
2g.166198780G>TCA429977606SCN1A-AS1,SCN9Ac.5859C>A (p.Thr1953=)
c.5703C>A (p.Thr1901=)
c.5826C>A (p.Thr1942=)
n.2236C>A
n.432-859G>T
c.5472C>A (p.Thr1824=)
c.5115C>A (p.Thr1705=)
2g.166198781G>ACA349051338SCN1A-AS1,SCN9Ac.5858C>T (p.Thr1953Ile)
c.5702C>T (p.Thr1901Ile)
c.5825C>T (p.Thr1942Ile)
n.2235C>T
n.432-858G>A
c.5471C>T (p.Thr1824Ile)
c.5114C>T (p.Thr1705Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166198781G>CCA349051339SCN1A-AS1,SCN9Ac.5858C>G (p.Thr1953Ser)
c.5702C>G (p.Thr1901Ser)
c.5825C>G (p.Thr1942Ser)
n.2235C>G
n.432-858G>C
c.5471C>G (p.Thr1824Ser)
c.5114C>G (p.Thr1705Ser)
2g.166198781G=CA1304929132SCN1A-AS1,SCN9Ac.5858C= (p.Thr1953=)
c.5702C= (p.Thr1901=)
c.5825C= (p.Thr1942=)
n.2235C=
n.432-858G=
c.5471C= (p.Thr1824=)
c.5114C= (p.Thr1705=)
2g.166198781G>TCA349051340SCN1A-AS1,SCN9Ac.5858C>A (p.Thr1953Asn)
c.5702C>A (p.Thr1901Asn)
c.5825C>A (p.Thr1942Asn)
n.2235C>A
n.432-858G>T
c.5471C>A (p.Thr1824Asn)
c.5114C>A (p.Thr1705Asn)
 ClinVar
2g.166198782T>ACA349051341SCN1A-AS1,SCN9Ac.5857A>T (p.Thr1953Ser)
c.5701A>T (p.Thr1901Ser)
c.5824A>T (p.Thr1942Ser)
n.2234A>T
n.432-857T>A
c.5470A>T (p.Thr1824Ser)
c.5113A>T (p.Thr1705Ser)
2g.166198782T>CCA349051342SCN1A-AS1,SCN9Ac.5857A>G (p.Thr1953Ala)
c.5701A>G (p.Thr1901Ala)
c.5824A>G (p.Thr1942Ala)
n.2234A>G
n.432-857T>C
c.5470A>G (p.Thr1824Ala)
c.5113A>G (p.Thr1705Ala)
2g.166198782T>GCA349051343SCN1A-AS1,SCN9Ac.5857A>C (p.Thr1953Pro)
c.5701A>C (p.Thr1901Pro)
c.5824A>C (p.Thr1942Pro)
n.2234A>C
n.432-857T>G
c.5470A>C (p.Thr1824Pro)
c.5113A>C (p.Thr1705Pro)
2g.166198783G>ACA429977613SCN1A-AS1,SCN9Ac.5856C>T (p.Thr1952=)
c.5700C>T (p.Thr1900=)
c.5823C>T (p.Thr1941=)
n.2233C>T
n.432-856G>A
c.5469C>T (p.Thr1823=)
c.5112C>T (p.Thr1704=)
2g.166198783G>CCA429977614SCN1A-AS1,SCN9Ac.5856C>G (p.Thr1952=)
c.5700C>G (p.Thr1900=)
c.5823C>G (p.Thr1941=)
n.2233C>G
n.432-856G>C
c.5469C>G (p.Thr1823=)
c.5112C>G (p.Thr1704=)
2g.166198783G>TCA429977615SCN1A-AS1,SCN9Ac.5856C>A (p.Thr1952=)
c.5700C>A (p.Thr1900=)
c.5823C>A (p.Thr1941=)
n.2233C>A
n.432-856G>T
c.5469C>A (p.Thr1823=)
c.5112C>A (p.Thr1704=)
2g.166198784G>ACA349051344SCN1A-AS1,SCN9Ac.5855C>T (p.Thr1952Ile)
c.5699C>T (p.Thr1900Ile)
c.5822C>T (p.Thr1941Ile)
n.2232C>T
n.432-855G>A
c.5468C>T (p.Thr1823Ile)
c.5111C>T (p.Thr1704Ile)
2g.166198784G>CCA349051345SCN1A-AS1,SCN9Ac.5855C>G (p.Thr1952Ser)
c.5699C>G (p.Thr1900Ser)
c.5822C>G (p.Thr1941Ser)
n.2232C>G
n.432-855G>C
c.5468C>G (p.Thr1823Ser)
c.5111C>G (p.Thr1704Ser)
2g.166198784G=CA1304929133SCN1A-AS1,SCN9Ac.5855C= (p.Thr1952=)
c.5699C= (p.Thr1900=)
c.5822C= (p.Thr1941=)
n.2232C=
n.432-855G=
c.5468C= (p.Thr1823=)
c.5111C= (p.Thr1704=)
2g.166198784G>TCA1943605SCN1A-AS1,SCN9Ac.5855C>A (p.Thr1952Asn)
c.5699C>A (p.Thr1900Asn)
c.5822C>A (p.Thr1941Asn)
n.2232C>A
n.432-855G>T
c.5468C>A (p.Thr1823Asn)
c.5111C>A (p.Thr1704Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198785T>ACA349051348SCN1A-AS1,SCN9Ac.5854A>T (p.Thr1952Ser)
c.5698A>T (p.Thr1900Ser)
c.5821A>T (p.Thr1941Ser)
n.2231A>T
n.432-854T>A
c.5467A>T (p.Thr1823Ser)
c.5110A>T (p.Thr1704Ser)
2g.166198785T>CCA349051347SCN1A-AS1,SCN9Ac.5854A>G (p.Thr1952Ala)
c.5698A>G (p.Thr1900Ala)
c.5821A>G (p.Thr1941Ala)
n.2231A>G
n.432-854T>C
c.5467A>G (p.Thr1823Ala)
c.5110A>G (p.Thr1704Ala)
2g.166198785T>GCA349051346SCN1A-AS1,SCN9Ac.5854A>C (p.Thr1952Pro)
c.5698A>C (p.Thr1900Pro)
c.5821A>C (p.Thr1941Pro)
n.2231A>C
n.432-854T>G
c.5467A>C (p.Thr1823Pro)
c.5110A>C (p.Thr1704Pro)
2g.166198786G>ACA429977621SCN1A-AS1,SCN9Ac.5853C>T (p.Ser1951=)
c.5697C>T (p.Ser1899=)
c.5820C>T (p.Ser1940=)
n.2230C>T
n.432-853G>A
c.5466C>T (p.Ser1822=)
c.5109C>T (p.Ser1703=)
2g.166198786G>CCA429977622SCN1A-AS1,SCN9Ac.5853C>G (p.Ser1951=)
c.5697C>G (p.Ser1899=)
c.5820C>G (p.Ser1940=)
n.2230C>G
n.432-853G>C
c.5466C>G (p.Ser1822=)
c.5109C>G (p.Ser1703=)
 gnomAD v4
2g.166198786G>TCA429977624SCN1A-AS1,SCN9Ac.5853C>A (p.Ser1951=)
c.5697C>A (p.Ser1899=)
c.5820C>A (p.Ser1940=)
n.2230C>A
n.432-853G>T
c.5466C>A (p.Ser1822=)
c.5109C>A (p.Ser1703=)
 gnomAD v4
2g.166198787G>ACA349051349SCN1A-AS1,SCN9Ac.5852C>T (p.Ser1951Phe)
c.5696C>T (p.Ser1899Phe)
c.5819C>T (p.Ser1940Phe)
n.2229C>T
n.432-852G>A
c.5465C>T (p.Ser1822Phe)
c.5108C>T (p.Ser1703Phe)
 gnomAD v4 COSMIC
2g.166198787G>CCA349051350SCN1A-AS1,SCN9Ac.5852C>G (p.Ser1951Cys)
c.5696C>G (p.Ser1899Cys)
c.5819C>G (p.Ser1940Cys)
n.2229C>G
n.432-852G>C
c.5465C>G (p.Ser1822Cys)
c.5108C>G (p.Ser1703Cys)
 gnomAD v4
2g.166198787G>TCA349051351SCN1A-AS1,SCN9Ac.5852C>A (p.Ser1951Tyr)
c.5696C>A (p.Ser1899Tyr)
c.5819C>A (p.Ser1940Tyr)
n.2229C>A
n.432-852G>T
c.5465C>A (p.Ser1822Tyr)
c.5108C>A (p.Ser1703Tyr)
 ClinVar
2g.166198788A>CCA349051352SCN1A-AS1,SCN9Ac.5851T>G (p.Ser1951Ala)
c.5695T>G (p.Ser1899Ala)
c.5818T>G (p.Ser1940Ala)
n.2228T>G
n.432-851A>C
c.5464T>G (p.Ser1822Ala)
c.5107T>G (p.Ser1703Ala)
2g.166198788A>GCA349051353SCN1A-AS1,SCN9Ac.5851T>C (p.Ser1951Pro)
c.5695T>C (p.Ser1899Pro)
c.5818T>C (p.Ser1940Pro)
n.2228T>C
n.432-851A>G
c.5464T>C (p.Ser1822Pro)
c.5107T>C (p.Ser1703Pro)
2g.166198788A>TCA349051354SCN1A-AS1,SCN9Ac.5851T>A (p.Ser1951Thr)
c.5695T>A (p.Ser1899Thr)
c.5818T>A (p.Ser1940Thr)
n.2228T>A
n.432-851A>T
c.5464T>A (p.Ser1822Thr)
c.5107T>A (p.Ser1703Thr)
2g.166198789T>ACA429977829SCN1A-AS1,SCN9Ac.5850A>T (p.Ser1950=)
c.5694A>T (p.Ser1898=)
c.5817A>T (p.Ser1939=)
n.2227A>T
n.432-850T>A
c.5463A>T (p.Ser1821=)
c.5106A>T (p.Ser1702=)
2g.166198789T>CCA429977828SCN1A-AS1,SCN9Ac.5850A>G (p.Ser1950=)
c.5694A>G (p.Ser1898=)
c.5817A>G (p.Ser1939=)
n.2227A>G
n.432-850T>C
c.5463A>G (p.Ser1821=)
c.5106A>G (p.Ser1702=)
2g.166198789T>GCA429977827SCN1A-AS1,SCN9Ac.5850A>C (p.Ser1950=)
c.5694A>C (p.Ser1898=)
c.5817A>C (p.Ser1939=)
n.2227A>C
n.432-850T>G
c.5463A>C (p.Ser1821=)
c.5106A>C (p.Ser1702=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166198789T=CA1304929134SCN1A-AS1,SCN9Ac.5850A= (p.Ser1950=)
c.5694A= (p.Ser1898=)
c.5817A= (p.Ser1939=)
n.2227A=
n.432-850T=
c.5463A= (p.Ser1821=)
c.5106A= (p.Ser1702=)
2g.166198790G>ACA349051355SCN1A-AS1,SCN9Ac.5849C>T (p.Ser1950Leu)
c.5693C>T (p.Ser1898Leu)
c.5816C>T (p.Ser1939Leu)
n.2226C>T
n.432-849G>A
c.5462C>T (p.Ser1821Leu)
c.5105C>T (p.Ser1702Leu)
 COSMIC COSMIC
2g.166198790G>CCA349051356SCN1A-AS1,SCN9Ac.5849C>G (p.Ser1950Ter)
c.5693C>G (p.Ser1898Ter)
c.5816C>G (p.Ser1939Ter)
n.2226C>G
n.432-849G>C
c.5462C>G (p.Ser1821Ter)
c.5105C>G (p.Ser1702Ter)
2g.166198790G>TCA349051357SCN1A-AS1,SCN9Ac.5849C>A (p.Ser1950Ter)
c.5693C>A (p.Ser1898Ter)
c.5816C>A (p.Ser1939Ter)
n.2226C>A
n.432-849G>T
c.5462C>A (p.Ser1821Ter)
c.5105C>A (p.Ser1702Ter)
2g.166198791A>CCA349051358SCN1A-AS1,SCN9Ac.5848T>G (p.Ser1950Ala)
c.5692T>G (p.Ser1898Ala)
c.5815T>G (p.Ser1939Ala)
n.2225T>G
n.432-848A>C
c.5461T>G (p.Ser1821Ala)
c.5104T>G (p.Ser1702Ala)
2g.166198791A>GCA349051359SCN1A-AS1,SCN9Ac.5848T>C (p.Ser1950Pro)
c.5692T>C (p.Ser1898Pro)
c.5815T>C (p.Ser1939Pro)
n.2225T>C
n.432-848A>G
c.5461T>C (p.Ser1821Pro)
c.5104T>C (p.Ser1702Pro)
2g.166198791A>TCA349051360SCN1A-AS1,SCN9Ac.5848T>A (p.Ser1950Thr)
c.5692T>A (p.Ser1898Thr)
c.5815T>A (p.Ser1939Thr)
n.2225T>A
n.432-848A>T
c.5461T>A (p.Ser1821Thr)
c.5104T>A (p.Ser1702Thr)
2g.166198792A>CCA429977835SCN1A-AS1,SCN9Ac.5847T>G (p.Thr1949=)
c.5691T>G (p.Thr1897=)
c.5814T>G (p.Thr1938=)
n.2224T>G
n.432-847A>C
c.5460T>G (p.Thr1820=)
c.5103T>G (p.Thr1701=)
 gnomAD v4
2g.166198792A>GCA429977836SCN1A-AS1,SCN9Ac.5847T>C (p.Thr1949=)
c.5691T>C (p.Thr1897=)
c.5814T>C (p.Thr1938=)
n.2224T>C
n.432-847A>G
c.5460T>C (p.Thr1820=)
c.5103T>C (p.Thr1701=)
2g.166198792A>TCA429977838SCN1A-AS1,SCN9Ac.5847T>A (p.Thr1949=)
c.5691T>A (p.Thr1897=)
c.5814T>A (p.Thr1938=)
n.2224T>A
n.432-847A>T
c.5460T>A (p.Thr1820=)
c.5103T>A (p.Thr1701=)
2g.166198793G>ACA349051363SCN1A-AS1,SCN9Ac.5846C>T (p.Thr1949Ile)
c.5690C>T (p.Thr1897Ile)
c.5813C>T (p.Thr1938Ile)
n.2223C>T
n.432-846G>A
c.5459C>T (p.Thr1820Ile)
c.5102C>T (p.Thr1701Ile)
 gnomAD v4
2g.166198793G>CCA349051362SCN1A-AS1,SCN9Ac.5846C>G (p.Thr1949Ser)
c.5690C>G (p.Thr1897Ser)
c.5813C>G (p.Thr1938Ser)
n.2223C>G
n.432-846G>C
c.5459C>G (p.Thr1820Ser)
c.5102C>G (p.Thr1701Ser)
2g.166198793G>TCA349051361SCN1A-AS1,SCN9Ac.5846C>A (p.Thr1949Asn)
c.5690C>A (p.Thr1897Asn)
c.5813C>A (p.Thr1938Asn)
n.2223C>A
n.432-846G>T
c.5459C>A (p.Thr1820Asn)
c.5102C>A (p.Thr1701Asn)
2g.166198794T>ACA349051364SCN1A-AS1,SCN9Ac.5845A>T (p.Thr1949Ser)
c.5689A>T (p.Thr1897Ser)
c.5812A>T (p.Thr1938Ser)
n.2222A>T
n.432-845T>A
c.5458A>T (p.Thr1820Ser)
c.5101A>T (p.Thr1701Ser)
2g.166198794T>CCA349051366SCN1A-AS1,SCN9Ac.5845A>G (p.Thr1949Ala)
c.5689A>G (p.Thr1897Ala)
c.5812A>G (p.Thr1938Ala)
n.2222A>G
n.432-845T>C
c.5458A>G (p.Thr1820Ala)
c.5101A>G (p.Thr1701Ala)
2g.166198794T>GCA349051365SCN1A-AS1,SCN9Ac.5845A>C (p.Thr1949Pro)
c.5689A>C (p.Thr1897Pro)
c.5812A>C (p.Thr1938Pro)
n.2222A>C
n.432-845T>G
c.5458A>C (p.Thr1820Pro)
c.5101A>C (p.Thr1701Pro)
2g.166198795G>ACA429977845SCN1A-AS1,SCN9Ac.5844C>T (p.Ala1948=)
c.5688C>T (p.Ala1896=)
c.5811C>T (p.Ala1937=)
n.2221C>T
n.432-844G>A
c.5457C>T (p.Ala1819=)
c.5100C>T (p.Ala1700=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166198795G>CCA429977847SCN1A-AS1,SCN9Ac.5844C>G (p.Ala1948=)
c.5688C>G (p.Ala1896=)
c.5811C>G (p.Ala1937=)
n.2221C>G
n.432-844G>C
c.5457C>G (p.Ala1819=)
c.5100C>G (p.Ala1700=)
2g.166198795G=CA1304929135SCN1A-AS1,SCN9Ac.5844C= (p.Ala1948=)
c.5688C= (p.Ala1896=)
c.5811C= (p.Ala1937=)
n.2221C=
n.432-844G=
c.5457C= (p.Ala1819=)
c.5100C= (p.Ala1700=)
2g.166198795G>TCA429977846SCN1A-AS1,SCN9Ac.5844C>A (p.Ala1948=)
c.5688C>A (p.Ala1896=)
c.5811C>A (p.Ala1937=)
n.2221C>A
n.432-844G>T
c.5457C>A (p.Ala1819=)
c.5100C>A (p.Ala1700=)
2g.166198796G>ACA349051367SCN1A-AS1,SCN9Ac.5843C>T (p.Ala1948Val)
c.5687C>T (p.Ala1896Val)
c.5810C>T (p.Ala1937Val)
n.2220C>T
n.432-843G>A
c.5456C>T (p.Ala1819Val)
c.5099C>T (p.Ala1700Val)
2g.166198796G>CCA349051368SCN1A-AS1,SCN9Ac.5843C>G (p.Ala1948Gly)
c.5687C>G (p.Ala1896Gly)
c.5810C>G (p.Ala1937Gly)
n.2220C>G
n.432-843G>C
c.5456C>G (p.Ala1819Gly)
c.5099C>G (p.Ala1700Gly)
 gnomAD v4
2g.166198796G=CA1304929136SCN1A-AS1,SCN9Ac.5843C= (p.Ala1948=)
c.5687C= (p.Ala1896=)
c.5810C= (p.Ala1937=)
n.2220C=
n.432-843G=
c.5456C= (p.Ala1819=)
c.5099C= (p.Ala1700=)
2g.166198796G>TCA349051369SCN1A-AS1,SCN9Ac.5843C>A (p.Ala1948Asp)
c.5687C>A (p.Ala1896Asp)
c.5810C>A (p.Ala1937Asp)
n.2220C>A
n.432-843G>T
c.5456C>A (p.Ala1819Asp)
c.5099C>A (p.Ala1700Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198797C>ACA349051370SCN1A-AS1,SCN9Ac.5842G>T (p.Ala1948Ser)
c.5686G>T (p.Ala1896Ser)
c.5809G>T (p.Ala1937Ser)
n.2219G>T
n.432-842C>A
c.5455G>T (p.Ala1819Ser)
c.5098G>T (p.Ala1700Ser)
2g.166198797C=CA1304929137SCN1A-AS1,SCN9Ac.5842G= (p.Ala1948=)
c.5686G= (p.Ala1896=)
c.5809G= (p.Ala1937=)
n.2219G=
n.432-842C=
c.5455G= (p.Ala1819=)
c.5098G= (p.Ala1700=)
2g.166198797C>GCA349051371SCN1A-AS1,SCN9Ac.5842G>C (p.Ala1948Pro)
c.5686G>C (p.Ala1896Pro)
c.5809G>C (p.Ala1937Pro)
n.2219G>C
n.432-842C>G
c.5455G>C (p.Ala1819Pro)
c.5098G>C (p.Ala1700Pro)
2g.166198797C>TCA349051372SCN1A-AS1,SCN9Ac.5842G>A (p.Ala1948Thr)
c.5686G>A (p.Ala1896Thr)
c.5809G>A (p.Ala1937Thr)
n.2219G>A
n.432-842C>T
c.5455G>A (p.Ala1819Thr)
c.5098G>A (p.Ala1700Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.166198798_166198800dupCA760166393SCN1A-AS1,SCN9Ac.5840_5842dup (p.Asp1947_Ala1948insAsp)
c.5684_5686dup (p.Asp1895_Ala1896insAsp)
c.5807_5809dup (p.Asp1936_Ala1937insAsp)
n.2217_2219dup
n.432-841_432-839dup
c.5453_5455dup (p.Asp1818_Ala1819insAsp)
c.5096_5098dup (p.Asp1699_Ala1700insAsp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166198798A=CA1304929138SCN1A-AS1,SCN9Ac.5841T= (p.Asp1947=)
c.5685T= (p.Asp1895=)
c.5808T= (p.Asp1936=)
n.2218T=
n.432-841A=
c.5454T= (p.Asp1818=)
c.5097T= (p.Asp1699=)
2g.166198798A>CCA349051373SCN1A-AS1,SCN9Ac.5841T>G (p.Asp1947Glu)
c.5685T>G (p.Asp1895Glu)
c.5808T>G (p.Asp1936Glu)
n.2218T>G
n.432-841A>C
c.5454T>G (p.Asp1818Glu)
c.5097T>G (p.Asp1699Glu)
2g.166198798A>GCA429977854SCN1A-AS1,SCN9Ac.5841T>C (p.Asp1947=)
c.5685T>C (p.Asp1895=)
c.5808T>C (p.Asp1936=)
n.2218T>C
n.432-841A>G
c.5454T>C (p.Asp1818=)
c.5097T>C (p.Asp1699=)
 ClinVar dbSNP gnomAD v4
2g.166198798A>TCA349051374SCN1A-AS1,SCN9Ac.5841T>A (p.Asp1947Glu)
c.5685T>A (p.Asp1895Glu)
c.5808T>A (p.Asp1936Glu)
n.2218T>A
n.432-841A>T
c.5454T>A (p.Asp1818Glu)
c.5097T>A (p.Asp1699Glu)
2g.166198799T>ACA349051375SCN1A-AS1,SCN9Ac.5840A>T (p.Asp1947Val)
c.5684A>T (p.Asp1895Val)
c.5807A>T (p.Asp1936Val)
n.2217A>T
n.432-840T>A
c.5453A>T (p.Asp1818Val)
c.5096A>T (p.Asp1699Val)
2g.166198799T>CCA349051376SCN1A-AS1,SCN9Ac.5840A>G (p.Asp1947Gly)
c.5684A>G (p.Asp1895Gly)
c.5807A>G (p.Asp1936Gly)
n.2217A>G
n.432-840T>C
c.5453A>G (p.Asp1818Gly)
c.5096A>G (p.Asp1699Gly)
2g.166198799T>GCA349051377SCN1A-AS1,SCN9Ac.5840A>C (p.Asp1947Ala)
c.5684A>C (p.Asp1895Ala)
c.5807A>C (p.Asp1936Ala)
n.2217A>C
n.432-840T>G
c.5453A>C (p.Asp1818Ala)
c.5096A>C (p.Asp1699Ala)
2g.166198800C>ACA349051380SCN1A-AS1,SCN9Ac.5839G>T (p.Asp1947Tyr)
c.5683G>T (p.Asp1895Tyr)
c.5806G>T (p.Asp1936Tyr)
n.2216G>T
n.432-839C>A
c.5452G>T (p.Asp1818Tyr)
c.5095G>T (p.Asp1699Tyr)
2g.166198800C=CA1304929139SCN1A-AS1,SCN9Ac.5839G= (p.Asp1947=)
c.5683G= (p.Asp1895=)
c.5806G= (p.Asp1936=)
n.2216G=
n.432-839C=
c.5452G= (p.Asp1818=)
c.5095G= (p.Asp1699=)
2g.166198800C>GCA349051379SCN1A-AS1,SCN9Ac.5839G>C (p.Asp1947His)
c.5683G>C (p.Asp1895His)
c.5806G>C (p.Asp1936His)
n.2216G>C
n.432-839C>G
c.5452G>C (p.Asp1818His)
c.5095G>C (p.Asp1699His)
 ClinVar dbSNP
2g.166198800C>TCA349051378SCN1A-AS1,SCN9Ac.5839G>A (p.Asp1947Asn)
c.5683G>A (p.Asp1895Asn)
c.5806G>A (p.Asp1936Asn)
n.2216G>A
n.432-839C>T
c.5452G>A (p.Asp1818Asn)
c.5095G>A (p.Asp1699Asn)
 COSMIC COSMIC
2g.166198801T>ACA429977861SCN1A-AS1,SCN9Ac.5838A>T (p.Thr1946=)
c.5682A>T (p.Thr1894=)
c.5805A>T (p.Thr1935=)
n.2215A>T
n.432-838T>A
c.5451A>T (p.Thr1817=)
c.5094A>T (p.Thr1698=)
2g.166198801T>CCA429977859SCN1A-AS1,SCN9Ac.5838A>G (p.Thr1946=)
c.5682A>G (p.Thr1894=)
c.5805A>G (p.Thr1935=)
n.2215A>G
n.432-838T>C
c.5451A>G (p.Thr1817=)
c.5094A>G (p.Thr1698=)
2g.166198801T>GCA429977860SCN1A-AS1,SCN9Ac.5838A>C (p.Thr1946=)
c.5682A>C (p.Thr1894=)
c.5805A>C (p.Thr1935=)
n.2215A>C
n.432-838T>G
c.5451A>C (p.Thr1817=)
c.5094A>C (p.Thr1698=)
2g.166198802G>ACA349051381SCN1A-AS1,SCN9Ac.5837C>T (p.Thr1946Ile)
c.5681C>T (p.Thr1894Ile)
c.5804C>T (p.Thr1935Ile)
n.2214C>T
n.432-837G>A
c.5450C>T (p.Thr1817Ile)
c.5093C>T (p.Thr1698Ile)
2g.166198802G>CCA1943606SCN1A-AS1,SCN9Ac.5837C>G (p.Thr1946Arg)
c.5681C>G (p.Thr1894Arg)
c.5804C>G (p.Thr1935Arg)
n.2214C>G
n.432-837G>C
c.5450C>G (p.Thr1817Arg)
c.5093C>G (p.Thr1698Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198802G=CA1304929140SCN1A-AS1,SCN9Ac.5837C= (p.Thr1946=)
c.5681C= (p.Thr1894=)
c.5804C= (p.Thr1935=)
n.2214C=
n.432-837G=
c.5450C= (p.Thr1817=)
c.5093C= (p.Thr1698=)
2g.166198802G>TCA349051382SCN1A-AS1,SCN9Ac.5837C>A (p.Thr1946Lys)
c.5681C>A (p.Thr1894Lys)
c.5804C>A (p.Thr1935Lys)
n.2214C>A
n.432-837G>T
c.5450C>A (p.Thr1817Lys)
c.5093C>A (p.Thr1698Lys)
2g.166198803T>ACA349051383SCN1A-AS1,SCN9Ac.5836A>T (p.Thr1946Ser)
c.5680A>T (p.Thr1894Ser)
c.5803A>T (p.Thr1935Ser)
n.2213A>T
n.432-836T>A
c.5449A>T (p.Thr1817Ser)
c.5092A>T (p.Thr1698Ser)
2g.166198803T>CCA349051384SCN1A-AS1,SCN9Ac.5836A>G (p.Thr1946Ala)
c.5680A>G (p.Thr1894Ala)
c.5803A>G (p.Thr1935Ala)
n.2213A>G
n.432-836T>C
c.5449A>G (p.Thr1817Ala)
c.5092A>G (p.Thr1698Ala)
2g.166198803T>GCA349051385SCN1A-AS1,SCN9Ac.5836A>C (p.Thr1946Pro)
c.5680A>C (p.Thr1894Pro)
c.5803A>C (p.Thr1935Pro)
n.2213A>C
n.432-836T>G
c.5449A>C (p.Thr1817Pro)
c.5092A>C (p.Thr1698Pro)
2g.166198808dupCA537508630SCN1A-AS1,SCN9Ac.5836dup (p.Thr1946AsnfsTer14)
c.5680dup (p.Thr1894AsnfsTer14)
c.5803dup (p.Thr1935AsnfsTer14)
n.2213dup
n.432-831dup
c.5449dup (p.Thr1817AsnfsTer14)
c.5092dup (p.Thr1698AsnfsTer14)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166198803_166198804insACA429977864SCN1A-AS1,SCN9Ac.5835_5836insT (p.Thr1946TyrfsTer14)
c.5679_5680insT (p.Thr1894TyrfsTer14)
c.5802_5803insT (p.Thr1935TyrfsTer14)
n.2212_2213insT
n.432-836_432-835insA
c.5448_5449insT (p.Thr1817TyrfsTer14)
c.5091_5092insT (p.Thr1698TyrfsTer14)
2g.166198804T>ACA349051386SCN1A-AS1,SCN9Ac.5835A>T (p.Lys1945Asn)
c.5679A>T (p.Lys1893Asn)
c.5802A>T (p.Lys1934Asn)
n.2212A>T
n.432-835T>A
c.5448A>T (p.Lys1816Asn)
c.5091A>T (p.Lys1697Asn)
2g.166198804T>CCA1943607SCN1A-AS1,SCN9Ac.5835A>G (p.Lys1945=)
c.5679A>G (p.Lys1893=)
c.5802A>G (p.Lys1934=)
n.2212A>G
n.432-835T>C
c.5448A>G (p.Lys1816=)
c.5091A>G (p.Lys1697=)
 dbSNP ExAC
2g.166198804T>GCA349051387SCN1A-AS1,SCN9Ac.5835A>C (p.Lys1945Asn)
c.5679A>C (p.Lys1893Asn)
c.5802A>C (p.Lys1934Asn)
n.2212A>C
n.432-835T>G
c.5448A>C (p.Lys1816Asn)
c.5091A>C (p.Lys1697Asn)
2g.166198804T=CA1304929141SCN1A-AS1,SCN9Ac.5835A= (p.Lys1945=)
c.5679A= (p.Lys1893=)
c.5802A= (p.Lys1934=)
n.2212A=
n.432-835T=
c.5448A= (p.Lys1816=)
c.5091A= (p.Lys1697=)
2g.166198805T>ACA349051388SCN1A-AS1,SCN9Ac.5834A>T (p.Lys1945Ile)
c.5678A>T (p.Lys1893Ile)
c.5801A>T (p.Lys1934Ile)
n.2211A>T
n.432-834T>A
c.5447A>T (p.Lys1816Ile)
c.5090A>T (p.Lys1697Ile)
2g.166198805T>CCA349051389SCN1A-AS1,SCN9Ac.5834A>G (p.Lys1945Arg)
c.5678A>G (p.Lys1893Arg)
c.5801A>G (p.Lys1934Arg)
n.2211A>G
n.432-834T>C
c.5447A>G (p.Lys1816Arg)
c.5090A>G (p.Lys1697Arg)
 ClinVar dbSNP gnomAD v4
2g.166198805T>GCA349051390SCN1A-AS1,SCN9Ac.5834A>C (p.Lys1945Thr)
c.5678A>C (p.Lys1893Thr)
c.5801A>C (p.Lys1934Thr)
n.2211A>C
n.432-834T>G
c.5447A>C (p.Lys1816Thr)
c.5090A>C (p.Lys1697Thr)
2g.166198805T=CA1304929143SCN1A-AS1,SCN9Ac.5834A= (p.Lys1945=)
c.5678A= (p.Lys1893=)
c.5801A= (p.Lys1934=)
n.2211A=
n.432-834T=
c.5447A= (p.Lys1816=)
c.5090A= (p.Lys1697=)
2g.166198806_166198807insCTCGCGATTATATTGAAGTTATGTATTCA1304929142SCN1A-AS1,SCN9Ac.5834_5835insTACATAACTTCAATATAATCGCGAGAA (p.Lys1945AsnfsTer3)
c.5678_5679insTACATAACTTCAATATAATCGCGAGAA (p.Lys1893AsnfsTer3)
c.5801_5802insTACATAACTTCAATATAATCGCGAGAA (p.Lys1934AsnfsTer3)
n.2211_2212insTACATAACTTCAATATAATCGCGAGAA
n.432-833_432-832insCTCGCGATTATATTGAAGTTATGTATT
c.5447_5448insTACATAACTTCAATATAATCGCGAGAA (p.Lys1816AsnfsTer3)
c.5090_5091insTACATAACTTCAATATAATCGCGAGAA (p.Lys1697AsnfsTer3)
 dbSNP
2g.166198806T>ACA349051393SCN1A-AS1,SCN9Ac.5833A>T (p.Lys1945Ter)
c.5677A>T (p.Lys1893Ter)
c.5800A>T (p.Lys1934Ter)
n.2210A>T
n.432-833T>A
c.5446A>T (p.Lys1816Ter)
c.5089A>T (p.Lys1697Ter)
 dbSNP
2g.166198806T>CCA349051392SCN1A-AS1,SCN9Ac.5833A>G (p.Lys1945Glu)
c.5677A>G (p.Lys1893Glu)
c.5800A>G (p.Lys1934Glu)
n.2210A>G
n.432-833T>C
c.5446A>G (p.Lys1816Glu)
c.5089A>G (p.Lys1697Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.166198806T>GCA349051391SCN1A-AS1,SCN9Ac.5833A>C (p.Lys1945Gln)
c.5677A>C (p.Lys1893Gln)
c.5800A>C (p.Lys1934Gln)
n.2210A>C
n.432-833T>G
c.5446A>C (p.Lys1816Gln)
c.5089A>C (p.Lys1697Gln)
2g.166198806T=CA1304929144SCN1A-AS1,SCN9Ac.5833A= (p.Lys1945=)
c.5677A= (p.Lys1893=)
c.5800A= (p.Lys1934=)
n.2210A=
n.432-833T=
c.5446A= (p.Lys1816=)
c.5089A= (p.Lys1697=)
2g.166198807T>ACA349051395SCN1A-AS1,SCN9Ac.5832A>T (p.Glu1944Asp)
c.5676A>T (p.Glu1892Asp)
c.5799A>T (p.Glu1933Asp)
n.2209A>T
n.432-832T>A
c.5445A>T (p.Glu1815Asp)
c.5088A>T (p.Glu1696Asp)
2g.166198807T>CCA429977872SCN1A-AS1,SCN9Ac.5832A>G (p.Glu1944=)
c.5676A>G (p.Glu1892=)
c.5799A>G (p.Glu1933=)
n.2209A>G
n.432-832T>C
c.5445A>G (p.Glu1815=)
c.5088A>G (p.Glu1696=)
2g.166198807T>GCA349051394SCN1A-AS1,SCN9Ac.5832A>C (p.Glu1944Asp)
c.5676A>C (p.Glu1892Asp)
c.5799A>C (p.Glu1933Asp)
n.2209A>C
n.432-832T>G
c.5445A>C (p.Glu1815Asp)
c.5088A>C (p.Glu1696Asp)
2g.166198808T>ACA349051396SCN1A-AS1,SCN9Ac.5831A>T (p.Glu1944Val)
c.5675A>T (p.Glu1892Val)
c.5798A>T (p.Glu1933Val)
n.2208A>T
n.432-831T>A
c.5444A>T (p.Glu1815Val)
c.5087A>T (p.Glu1696Val)
 dbSNP
2g.166198808T>CCA349051397SCN1A-AS1,SCN9Ac.5831A>G (p.Glu1944Gly)
c.5675A>G (p.Glu1892Gly)
c.5798A>G (p.Glu1933Gly)
n.2208A>G
n.432-831T>C
c.5444A>G (p.Glu1815Gly)
c.5087A>G (p.Glu1696Gly)
2g.166198808T>GCA349051398SCN1A-AS1,SCN9Ac.5831A>C (p.Glu1944Ala)
c.5675A>C (p.Glu1892Ala)
c.5798A>C (p.Glu1933Ala)
n.2208A>C
n.432-831T>G
c.5444A>C (p.Glu1815Ala)
c.5087A>C (p.Glu1696Ala)
2g.166198808T=CA1304929146SCN1A-AS1,SCN9Ac.5831A= (p.Glu1944=)
c.5675A= (p.Glu1892=)
c.5798A= (p.Glu1933=)
n.2208A=
n.432-831T=
c.5444A= (p.Glu1815=)
c.5087A= (p.Glu1696=)
2g.166198808_166198809delinsTCCA1304929145SCN1A-AS1,SCN9Ac.5830_5831delinsGA (p.Glu1944=)
c.5674_5675delinsGA (p.Glu1892=)
c.5797_5798delinsGA (p.Glu1933=)
n.2207_2208delinsGA
n.432-831_432-830delinsTC
c.5443_5444delinsGA (p.Glu1815=)
c.5086_5087delinsGA (p.Glu1696=)
2g.166198809_166198810delCA2701009302SCN1A-AS1,SCN9Ac.5830_5831del (p.Glu1944LysfsTer15)
c.5674_5675del (p.Glu1892LysfsTer15)
c.5797_5798del (p.Glu1933LysfsTer15)
n.2207_2208del
n.432-830_432-829del
c.5443_5444del (p.Glu1815LysfsTer15)
c.5086_5087del (p.Glu1696LysfsTer15)
 dbSNP
2g.166198809delCA1943608SCN1A-AS1,SCN9Ac.5830del (p.Glu1944LysfsTer18)
c.5674del (p.Glu1892LysfsTer18)
c.5797del (p.Glu1933LysfsTer18)
n.2207del
n.432-830del
c.5443del (p.Glu1815LysfsTer18)
c.5086del (p.Glu1696LysfsTer18)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198809C>ACA349051399SCN1A-AS1,SCN9Ac.5830G>T (p.Glu1944Ter)
c.5674G>T (p.Glu1892Ter)
c.5797G>T (p.Glu1933Ter)
n.2207G>T
n.432-830C>A
c.5443G>T (p.Glu1815Ter)
c.5086G>T (p.Glu1696Ter)
 dbSNP
2g.166198809C=CA1304929147SCN1A-AS1,SCN9Ac.5830G= (p.Glu1944=)
c.5674G= (p.Glu1892=)
c.5797G= (p.Glu1933=)
n.2207G=
n.432-830C=
c.5443G= (p.Glu1815=)
c.5086G= (p.Glu1696=)
2g.166198809C>GCA349051400SCN1A-AS1,SCN9Ac.5830G>C (p.Glu1944Gln)
c.5674G>C (p.Glu1892Gln)
c.5797G>C (p.Glu1933Gln)
n.2207G>C
n.432-830C>G
c.5443G>C (p.Glu1815Gln)
c.5086G>C (p.Glu1696Gln)
2g.166198809C>TCA349051401SCN1A-AS1,SCN9Ac.5830G>A (p.Glu1944Lys)
c.5674G>A (p.Glu1892Lys)
c.5797G>A (p.Glu1933Lys)
n.2207G>A
n.432-830C>T
c.5443G>A (p.Glu1815Lys)
c.5086G>A (p.Glu1696Lys)
 ClinVar dbSNP gnomAD v4
2g.166198810T>ACA429977879SCN1A-AS1,SCN9Ac.5829A>T (p.Pro1943=)
c.5673A>T (p.Pro1891=)
c.5796A>T (p.Pro1932=)
n.2206A>T
n.432-829T>A
c.5442A>T (p.Pro1814=)
c.5085A>T (p.Pro1695=)
2g.166198810T>CCA429977877SCN1A-AS1,SCN9Ac.5829A>G (p.Pro1943=)
c.5673A>G (p.Pro1891=)
c.5796A>G (p.Pro1932=)
n.2206A>G
n.432-829T>C
c.5442A>G (p.Pro1814=)
c.5085A>G (p.Pro1695=)
 gnomAD v4
2g.166198810T>GCA59782802SCN1A-AS1,SCN9Ac.5829A>C (p.Pro1943=)
c.5673A>C (p.Pro1891=)
c.5796A>C (p.Pro1932=)
n.2206A>C
n.432-829T>G
c.5442A>C (p.Pro1814=)
c.5085A>C (p.Pro1695=)
 dbSNP
2g.166198810T=CA1304929148SCN1A-AS1,SCN9Ac.5829A= (p.Pro1943=)
c.5673A= (p.Pro1891=)
c.5796A= (p.Pro1932=)
n.2206A=
n.432-829T=
c.5442A= (p.Pro1814=)
c.5085A= (p.Pro1695=)
2g.166198811G>ACA349051402SCN1A-AS1,SCN9Ac.5828C>T (p.Pro1943Leu)
c.5672C>T (p.Pro1891Leu)
c.5795C>T (p.Pro1932Leu)
n.2205C>T
n.432-828G>A
c.5441C>T (p.Pro1814Leu)
c.5084C>T (p.Pro1695Leu)
2g.166198811G>CCA349051403SCN1A-AS1,SCN9Ac.5828C>G (p.Pro1943Arg)
c.5672C>G (p.Pro1891Arg)
c.5795C>G (p.Pro1932Arg)
n.2205C>G
n.432-828G>C
c.5441C>G (p.Pro1814Arg)
c.5084C>G (p.Pro1695Arg)
2g.166198811G>TCA349051404SCN1A-AS1,SCN9Ac.5828C>A (p.Pro1943Gln)
c.5672C>A (p.Pro1891Gln)
c.5795C>A (p.Pro1932Gln)
n.2205C>A
n.432-828G>T
c.5441C>A (p.Pro1814Gln)
c.5084C>A (p.Pro1695Gln)
2g.166198812G>ACA349051406SCN1A-AS1,SCN9Ac.5827C>T (p.Pro1943Ser)
c.5671C>T (p.Pro1891Ser)
c.5794C>T (p.Pro1932Ser)
n.2204C>T
n.432-827G>A
c.5440C>T (p.Pro1814Ser)
c.5083C>T (p.Pro1695Ser)
 gnomAD v4
2g.166198812G>CCA349051407SCN1A-AS1,SCN9Ac.5827C>G (p.Pro1943Ala)
c.5671C>G (p.Pro1891Ala)
c.5794C>G (p.Pro1932Ala)
n.2204C>G
n.432-827G>C
c.5440C>G (p.Pro1814Ala)
c.5083C>G (p.Pro1695Ala)
2g.166198812G>TCA349051405SCN1A-AS1,SCN9Ac.5827C>A (p.Pro1943Thr)
c.5671C>A (p.Pro1891Thr)
c.5794C>A (p.Pro1932Thr)
n.2204C>A
n.432-827G>T
c.5440C>A (p.Pro1814Thr)
c.5083C>A (p.Pro1695Thr)
2g.166198814_166198818dupCA2740095875SCN1A-AS1,SCN9Ac.5823_5827dup (p.Pro1943GlnfsTer21)
c.5667_5671dup (p.Pro1891GlnfsTer21)
c.5790_5794dup (p.Pro1932GlnfsTer21)
n.2200_2204dup
n.432-825_432-821dup
c.5436_5440dup (p.Pro1814GlnfsTer21)
c.5079_5083dup (p.Pro1695GlnfsTer21)
 ClinVar
2g.166198813A>CCA349051408SCN1A-AS1,SCN9Ac.5826T>G (p.Ser1942Arg)
c.5670T>G (p.Ser1890Arg)
c.5793T>G (p.Ser1931Arg)
n.2203T>G
n.432-826A>C
c.5439T>G (p.Ser1813Arg)
c.5082T>G (p.Ser1694Arg)
2g.166198813A>GCA429977883SCN1A-AS1,SCN9Ac.5826T>C (p.Ser1942=)
c.5670T>C (p.Ser1890=)
c.5793T>C (p.Ser1931=)
n.2203T>C
n.432-826A>G
c.5439T>C (p.Ser1813=)
c.5082T>C (p.Ser1694=)
2g.166198813A>TCA349051409SCN1A-AS1,SCN9Ac.5826T>A (p.Ser1942Arg)
c.5670T>A (p.Ser1890Arg)
c.5793T>A (p.Ser1931Arg)
n.2203T>A
n.432-826A>T
c.5439T>A (p.Ser1813Arg)
c.5082T>A (p.Ser1694Arg)
2g.166198814C>ACA349051410SCN1A-AS1,SCN9Ac.5825G>T (p.Ser1942Ile)
c.5669G>T (p.Ser1890Ile)
c.5792G>T (p.Ser1931Ile)
n.2202G>T
n.432-825C>A
c.5438G>T (p.Ser1813Ile)
c.5081G>T (p.Ser1694Ile)
2g.166198814C>GCA349051411SCN1A-AS1,SCN9Ac.5825G>C (p.Ser1942Thr)
c.5669G>C (p.Ser1890Thr)
c.5792G>C (p.Ser1931Thr)
n.2202G>C
n.432-825C>G
c.5438G>C (p.Ser1813Thr)
c.5081G>C (p.Ser1694Thr)
2g.166198814C>TCA349051412SCN1A-AS1,SCN9Ac.5825G>A (p.Ser1942Asn)
c.5669G>A (p.Ser1890Asn)
c.5792G>A (p.Ser1931Asn)
n.2202G>A
n.432-825C>T
c.5438G>A (p.Ser1813Asn)
c.5081G>A (p.Ser1694Asn)
2g.166198815T>ACA349051415SCN1A-AS1,SCN9Ac.5824A>T (p.Ser1942Cys)
c.5668A>T (p.Ser1890Cys)
c.5791A>T (p.Ser1931Cys)
n.2201A>T
n.432-824T>A
c.5437A>T (p.Ser1813Cys)
c.5080A>T (p.Ser1694Cys)
2g.166198815T>CCA349051413SCN1A-AS1,SCN9Ac.5824A>G (p.Ser1942Gly)
c.5668A>G (p.Ser1890Gly)
c.5791A>G (p.Ser1931Gly)
n.2201A>G
n.432-824T>C
c.5437A>G (p.Ser1813Gly)
c.5080A>G (p.Ser1694Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198815T>GCA349051414SCN1A-AS1,SCN9Ac.5824A>C (p.Ser1942Arg)
c.5668A>C (p.Ser1890Arg)
c.5791A>C (p.Ser1931Arg)
n.2201A>C
n.432-824T>G
c.5437A>C (p.Ser1813Arg)
c.5080A>C (p.Ser1694Arg)
2g.166198815T=CA1304929149SCN1A-AS1,SCN9Ac.5824A= (p.Ser1942=)
c.5668A= (p.Ser1890=)
c.5791A= (p.Ser1931=)
n.2201A=
n.432-824T=
c.5437A= (p.Ser1813=)
c.5080A= (p.Ser1694=)
2g.166198816dupCA2740095876SCN1A-AS1,SCN9Ac.5824dup (p.Ser1942LysfsTer18)
c.5668dup (p.Ser1890LysfsTer18)
c.5791dup (p.Ser1931LysfsTer18)
n.2201dup
n.432-823dup
c.5437dup (p.Ser1813LysfsTer18)
c.5080dup (p.Ser1694LysfsTer18)
 ClinVar
2g.166198816T>ACA429977893SCN1A-AS1,SCN9Ac.5823A>T (p.Ser1941=)
c.5667A>T (p.Ser1889=)
c.5790A>T (p.Ser1930=)
n.2200A>T
n.432-823T>A
c.5436A>T (p.Ser1812=)
c.5079A>T (p.Ser1693=)
2g.166198816T>CCA429977890SCN1A-AS1,SCN9Ac.5823A>G (p.Ser1941=)
c.5667A>G (p.Ser1889=)
c.5790A>G (p.Ser1930=)
n.2200A>G
n.432-823T>C
c.5436A>G (p.Ser1812=)
c.5079A>G (p.Ser1693=)
2g.166198816T>GCA429977891SCN1A-AS1,SCN9Ac.5823A>C (p.Ser1941=)
c.5667A>C (p.Ser1889=)
c.5790A>C (p.Ser1930=)
n.2200A>C
n.432-823T>G
c.5436A>C (p.Ser1812=)
c.5079A>C (p.Ser1693=)
2g.166198817G>ACA349051416SCN1A-AS1,SCN9Ac.5822C>T (p.Ser1941Leu)
c.5666C>T (p.Ser1889Leu)
c.5789C>T (p.Ser1930Leu)
n.2199C>T
n.432-822G>A
c.5435C>T (p.Ser1812Leu)
c.5078C>T (p.Ser1693Leu)
2g.166198817G>CCA349051417SCN1A-AS1,SCN9Ac.5822C>G (p.Ser1941Ter)
c.5666C>G (p.Ser1889Ter)
c.5789C>G (p.Ser1930Ter)
n.2199C>G
n.432-822G>C
c.5435C>G (p.Ser1812Ter)
c.5078C>G (p.Ser1693Ter)
 gnomAD v4
2g.166198817G>TCA349051418SCN1A-AS1,SCN9Ac.5822C>A (p.Ser1941Ter)
c.5666C>A (p.Ser1889Ter)
c.5789C>A (p.Ser1930Ter)
n.2199C>A
n.432-822G>T
c.5435C>A (p.Ser1812Ter)
c.5078C>A (p.Ser1693Ter)
2g.166198818A>CCA349051419SCN1A-AS1,SCN9Ac.5821T>G (p.Ser1941Ala)
c.5665T>G (p.Ser1889Ala)
c.5788T>G (p.Ser1930Ala)
n.2198T>G
n.432-821A>C
c.5434T>G (p.Ser1812Ala)
c.5077T>G (p.Ser1693Ala)
2g.166198818A>GCA349051420SCN1A-AS1,SCN9Ac.5821T>C (p.Ser1941Pro)
c.5665T>C (p.Ser1889Pro)
c.5788T>C (p.Ser1930Pro)
n.2198T>C
n.432-821A>G
c.5434T>C (p.Ser1812Pro)
c.5077T>C (p.Ser1693Pro)
2g.166198818A>TCA349051421SCN1A-AS1,SCN9Ac.5821T>A (p.Ser1941Thr)
c.5665T>A (p.Ser1889Thr)
c.5788T>A (p.Ser1930Thr)
n.2198T>A
n.432-821A>T
c.5434T>A (p.Ser1812Thr)
c.5077T>A (p.Ser1693Thr)
2g.166198819G>ACA59782807SCN1A-AS1,SCN9Ac.5820C>T (p.Asn1940=)
c.5664C>T (p.Asn1888=)
c.5787C>T (p.Asn1929=)
n.2197C>T
n.432-820G>A
c.5433C>T (p.Asn1811=)
c.5076C>T (p.Asn1692=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166198819G>CCA349051423SCN1A-AS1,SCN9Ac.5820C>G (p.Asn1940Lys)
c.5664C>G (p.Asn1888Lys)
c.5787C>G (p.Asn1929Lys)
n.2197C>G
n.432-820G>C
c.5433C>G (p.Asn1811Lys)
c.5076C>G (p.Asn1692Lys)
 ClinVar dbSNP
2g.166198819G=CA1304929150SCN1A-AS1,SCN9Ac.5820C= (p.Asn1940=)
c.5664C= (p.Asn1888=)
c.5787C= (p.Asn1929=)
n.2197C=
n.432-820G=
c.5433C= (p.Asn1811=)
c.5076C= (p.Asn1692=)
2g.166198819G>TCA349051422SCN1A-AS1,SCN9Ac.5820C>A (p.Asn1940Lys)
c.5664C>A (p.Asn1888Lys)
c.5787C>A (p.Asn1929Lys)
n.2197C>A
n.432-820G>T
c.5433C>A (p.Asn1811Lys)
c.5076C>A (p.Asn1692Lys)
 gnomAD v4
2g.166198820T>ACA349051424SCN1A-AS1,SCN9Ac.5819A>T (p.Asn1940Ile)
c.5663A>T (p.Asn1888Ile)
c.5786A>T (p.Asn1929Ile)
n.2196A>T
n.432-819T>A
c.5432A>T (p.Asn1811Ile)
c.5075A>T (p.Asn1692Ile)
2g.166198820T>CCA349051426SCN1A-AS1,SCN9Ac.5819A>G (p.Asn1940Ser)
c.5663A>G (p.Asn1888Ser)
c.5786A>G (p.Asn1929Ser)
n.2196A>G
n.432-819T>C
c.5432A>G (p.Asn1811Ser)
c.5075A>G (p.Asn1692Ser)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.166198820T>GCA349051425SCN1A-AS1,SCN9Ac.5819A>C (p.Asn1940Thr)
c.5663A>C (p.Asn1888Thr)
c.5786A>C (p.Asn1929Thr)
n.2196A>C
n.432-819T>G
c.5432A>C (p.Asn1811Thr)
c.5075A>C (p.Asn1692Thr)
2g.166198820T=CA1304929151SCN1A-AS1,SCN9Ac.5819A= (p.Asn1940=)
c.5663A= (p.Asn1888=)
c.5786A= (p.Asn1929=)
n.2196A=
n.432-819T=
c.5432A= (p.Asn1811=)
c.5075A= (p.Asn1692=)
2g.166198821T>ACA349051427SCN1A-AS1,SCN9Ac.5818A>T (p.Asn1940Tyr)
c.5662A>T (p.Asn1888Tyr)
c.5785A>T (p.Asn1929Tyr)
n.2195A>T
n.432-818T>A
c.5431A>T (p.Asn1811Tyr)
c.5074A>T (p.Asn1692Tyr)
2g.166198821T>CCA349051428SCN1A-AS1,SCN9Ac.5818A>G (p.Asn1940Asp)
c.5662A>G (p.Asn1888Asp)
c.5785A>G (p.Asn1929Asp)
n.2195A>G
n.432-818T>C
c.5431A>G (p.Asn1811Asp)
c.5074A>G (p.Asn1692Asp)
 gnomAD v4
2g.166198821T>GCA349051429SCN1A-AS1,SCN9Ac.5818A>C (p.Asn1940His)
c.5662A>C (p.Asn1888His)
c.5785A>C (p.Asn1929His)
n.2195A>C
n.432-818T>G
c.5431A>C (p.Asn1811His)
c.5074A>C (p.Asn1692His)
2g.166198822C>ACA16610173SCN1A-AS1,SCN9Ac.5817G>T (p.Glu1939Asp)
c.5661G>T (p.Glu1887Asp)
c.5784G>T (p.Glu1928Asp)
n.2194G>T
n.432-817C>A
c.5430G>T (p.Glu1810Asp)
c.5073G>T (p.Glu1691Asp)
 ClinVar dbSNP COSMIC COSMIC
2g.166198822C=CA1304929152SCN1A-AS1,SCN9Ac.5817G= (p.Glu1939=)
c.5661G= (p.Glu1887=)
c.5784G= (p.Glu1928=)
n.2194G=
n.432-817C=
c.5430G= (p.Glu1810=)
c.5073G= (p.Glu1691=)
2g.166198822C>GCA349051430SCN1A-AS1,SCN9Ac.5817G>C (p.Glu1939Asp)
c.5661G>C (p.Glu1887Asp)
c.5784G>C (p.Glu1928Asp)
n.2194G>C
n.432-817C>G
c.5430G>C (p.Glu1810Asp)
c.5073G>C (p.Glu1691Asp)
2g.166198822C>TCA429977902SCN1A-AS1,SCN9Ac.5817G>A (p.Glu1939=)
c.5661G>A (p.Glu1887=)
c.5784G>A (p.Glu1928=)
n.2194G>A
n.432-817C>T
c.5430G>A (p.Glu1810=)
c.5073G>A (p.Glu1691=)
2g.166198823T>ACA349051431SCN1A-AS1,SCN9Ac.5816A>T (p.Glu1939Val)
c.5660A>T (p.Glu1887Val)
c.5783A>T (p.Glu1928Val)
n.2193A>T
n.432-816T>A
c.5429A>T (p.Glu1810Val)
c.5072A>T (p.Glu1691Val)
2g.166198823T>CCA349051432SCN1A-AS1,SCN9Ac.5816A>G (p.Glu1939Gly)
c.5660A>G (p.Glu1887Gly)
c.5783A>G (p.Glu1928Gly)
n.2193A>G
n.432-816T>C
c.5429A>G (p.Glu1810Gly)
c.5072A>G (p.Glu1691Gly)
2g.166198823T>GCA349051433SCN1A-AS1,SCN9Ac.5816A>C (p.Glu1939Ala)
c.5660A>C (p.Glu1887Ala)
c.5783A>C (p.Glu1928Ala)
n.2193A>C
n.432-816T>G
c.5429A>C (p.Glu1810Ala)
c.5072A>C (p.Glu1691Ala)
2g.166198823_166198829delinsTCATTAACA1304929153SCN1A-AS1,SCN9Ac.5810_5816delinsTTAATGA (p.Val1937=)
c.5654_5660delinsTTAATGA (p.Val1885=)
c.5777_5783delinsTTAATGA (p.Val1926=)
n.2187_2193delinsTTAATGA
n.432-816_432-810delinsTCATTAA
c.5423_5429delinsTTAATGA (p.Val1808=)
c.5066_5072delinsTTAATGA (p.Val1689=)
2g.166198824C>ACA349051434SCN1A-AS1,SCN9Ac.5815G>T (p.Glu1939Ter)
c.5659G>T (p.Glu1887Ter)
c.5782G>T (p.Glu1928Ter)
n.2192G>T
n.432-815C>A
c.5428G>T (p.Glu1810Ter)
c.5071G>T (p.Glu1691Ter)
 dbSNP
2g.166198824C=CA1304929154SCN1A-AS1,SCN9Ac.5815G= (p.Glu1939=)
c.5659G= (p.Glu1887=)
c.5782G= (p.Glu1928=)
n.2192G=
n.432-815C=
c.5428G= (p.Glu1810=)
c.5071G= (p.Glu1691=)
2g.166198824C>GCA349051435SCN1A-AS1,SCN9Ac.5815G>C (p.Glu1939Gln)
c.5659G>C (p.Glu1887Gln)
c.5782G>C (p.Glu1928Gln)
n.2192G>C
n.432-815C>G
c.5428G>C (p.Glu1810Gln)
c.5071G>C (p.Glu1691Gln)
2g.166198824C>TCA1943610SCN1A-AS1,SCN9Ac.5815G>A (p.Glu1939Lys)
c.5659G>A (p.Glu1887Lys)
c.5782G>A (p.Glu1928Lys)
n.2192G>A
n.432-815C>T
c.5428G>A (p.Glu1810Lys)
c.5071G>A (p.Glu1691Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198829_166198834delCA1943609SCN1A-AS1,SCN9Ac.5810_5815del (p.Val1937_Asn1938del)
c.5654_5659del (p.Val1885_Asn1886del)
c.5777_5782del (p.Val1926_Asn1927del)
n.2187_2192del
n.432-810_432-805del
c.5423_5428del (p.Val1808_Asn1809del)
c.5066_5071del (p.Val1689_Asn1690del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198825A>CCA349051437SCN1A-AS1,SCN9Ac.5814T>G (p.Asn1938Lys)
c.5658T>G (p.Asn1886Lys)
c.5781T>G (p.Asn1927Lys)
n.2191T>G
n.432-814A>C
c.5427T>G (p.Asn1809Lys)
c.5070T>G (p.Asn1690Lys)
2g.166198825A>GCA429977909SCN1A-AS1,SCN9Ac.5814T>C (p.Asn1938=)
c.5658T>C (p.Asn1886=)
c.5781T>C (p.Asn1927=)
n.2191T>C
n.432-814A>G
c.5427T>C (p.Asn1809=)
c.5070T>C (p.Asn1690=)
 gnomAD v4
2g.166198825A>TCA349051436SCN1A-AS1,SCN9Ac.5814T>A (p.Asn1938Lys)
c.5658T>A (p.Asn1886Lys)
c.5781T>A (p.Asn1927Lys)
n.2191T>A
n.432-814A>T
c.5427T>A (p.Asn1809Lys)
c.5070T>A (p.Asn1690Lys)
2g.166198826T>ACA349051438SCN1A-AS1,SCN9Ac.5813A>T (p.Asn1938Ile)
c.5657A>T (p.Asn1886Ile)
c.5780A>T (p.Asn1927Ile)
n.2190A>T
n.432-813T>A
c.5426A>T (p.Asn1809Ile)
c.5069A>T (p.Asn1690Ile)
2g.166198826T>CCA349051439SCN1A-AS1,SCN9Ac.5813A>G (p.Asn1938Ser)
c.5657A>G (p.Asn1886Ser)
c.5780A>G (p.Asn1927Ser)
n.2190A>G
n.432-813T>C
c.5426A>G (p.Asn1809Ser)
c.5069A>G (p.Asn1690Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.166198826T>GCA349051440SCN1A-AS1,SCN9Ac.5813A>C (p.Asn1938Thr)
c.5657A>C (p.Asn1886Thr)
c.5780A>C (p.Asn1927Thr)
n.2190A>C
n.432-813T>G
c.5426A>C (p.Asn1809Thr)
c.5069A>C (p.Asn1690Thr)
2g.166198826T=CA1304929155SCN1A-AS1,SCN9Ac.5813A= (p.Asn1938=)
c.5657A= (p.Asn1886=)
c.5780A= (p.Asn1927=)
n.2190A=
n.432-813T=
c.5426A= (p.Asn1809=)
c.5069A= (p.Asn1690=)
2g.166198827T>ACA349051441SCN1A-AS1,SCN9Ac.5812A>T (p.Asn1938Tyr)
c.5656A>T (p.Asn1886Tyr)
c.5779A>T (p.Asn1927Tyr)
n.2189A>T
n.432-812T>A
c.5425A>T (p.Asn1809Tyr)
c.5068A>T (p.Asn1690Tyr)
2g.166198827T>CCA349051442SCN1A-AS1,SCN9Ac.5812A>G (p.Asn1938Asp)
c.5656A>G (p.Asn1886Asp)
c.5779A>G (p.Asn1927Asp)
n.2189A>G
n.432-812T>C
c.5425A>G (p.Asn1809Asp)
c.5068A>G (p.Asn1690Asp)
2g.166198827T>GCA349051443SCN1A-AS1,SCN9Ac.5812A>C (p.Asn1938His)
c.5656A>C (p.Asn1886His)
c.5779A>C (p.Asn1927His)
n.2189A>C
n.432-812T>G
c.5425A>C (p.Asn1809His)
c.5068A>C (p.Asn1690His)
2g.166198828A>CCA429977913SCN1A-AS1,SCN9Ac.5811T>G (p.Val1937=)
c.5655T>G (p.Val1885=)
c.5778T>G (p.Val1926=)
n.2188T>G
n.432-811A>C
c.5424T>G (p.Val1808=)
c.5067T>G (p.Val1689=)
2g.166198828A>GCA429977914SCN1A-AS1,SCN9Ac.5811T>C (p.Val1937=)
c.5655T>C (p.Val1885=)
c.5778T>C (p.Val1926=)
n.2188T>C
n.432-811A>G
c.5424T>C (p.Val1808=)
c.5067T>C (p.Val1689=)
 gnomAD v4
2g.166198828A>TCA429977917SCN1A-AS1,SCN9Ac.5811T>A (p.Val1937=)
c.5655T>A (p.Val1885=)
c.5778T>A (p.Val1926=)
n.2188T>A
n.432-811A>T
c.5424T>A (p.Val1808=)
c.5067T>A (p.Val1689=)
2g.166198829A>CCA349051444SCN1A-AS1,SCN9Ac.5810T>G (p.Val1937Gly)
c.5654T>G (p.Val1885Gly)
c.5777T>G (p.Val1926Gly)
n.2187T>G
n.432-810A>C
c.5423T>G (p.Val1808Gly)
c.5066T>G (p.Val1689Gly)
2g.166198829A>GCA349051445SCN1A-AS1,SCN9Ac.5810T>C (p.Val1937Ala)
c.5654T>C (p.Val1885Ala)
c.5777T>C (p.Val1926Ala)
n.2187T>C
n.432-810A>G
c.5423T>C (p.Val1808Ala)
c.5066T>C (p.Val1689Ala)
2g.166198829A>TCA349051446SCN1A-AS1,SCN9Ac.5810T>A (p.Val1937Asp)
c.5654T>A (p.Val1885Asp)
c.5777T>A (p.Val1926Asp)
n.2187T>A
n.432-810A>T
c.5423T>A (p.Val1808Asp)
c.5066T>A (p.Val1689Asp)
2g.166198830C>ACA349051447SCN1A-AS1,SCN9Ac.5809G>T (p.Val1937Phe)
c.5653G>T (p.Val1885Phe)
c.5776G>T (p.Val1926Phe)
n.2186G>T
n.432-809C>A
c.5422G>T (p.Val1808Phe)
c.5065G>T (p.Val1689Phe)
2g.166198830C>GCA349051448SCN1A-AS1,SCN9Ac.5809G>C (p.Val1937Leu)
c.5653G>C (p.Val1885Leu)
c.5776G>C (p.Val1926Leu)
n.2186G>C
n.432-809C>G
c.5422G>C (p.Val1808Leu)
c.5065G>C (p.Val1689Leu)
2g.166198830C>TCA349051449SCN1A-AS1,SCN9Ac.5809G>A (p.Val1937Ile)
c.5653G>A (p.Val1885Ile)
c.5776G>A (p.Val1926Ile)
n.2186G>A
n.432-809C>T
c.5422G>A (p.Val1808Ile)
c.5065G>A (p.Val1689Ile)
2g.166198830_166198833delinsCATTCA1304929156SCN1A-AS1,SCN9Ac.5806_5809delinsAATG (p.Asn1936=)
c.5650_5653delinsAATG (p.Asn1884=)
c.5773_5776delinsAATG (p.Asn1925=)
n.2183_2186delinsAATG
n.432-809_432-806delinsCATT
c.5419_5422delinsAATG (p.Asn1807=)
c.5062_5065delinsAATG (p.Asn1688=)
2g.166198831A=CA1304929157SCN1A-AS1,SCN9Ac.5808T= (p.Asn1936=)
c.5652T= (p.Asn1884=)
c.5775T= (p.Asn1925=)
n.2185T=
n.432-808A=
c.5421T= (p.Asn1807=)
c.5064T= (p.Asn1688=)
2g.166198831A>CCA349051451SCN1A-AS1,SCN9Ac.5808T>G (p.Asn1936Lys)
c.5652T>G (p.Asn1884Lys)
c.5775T>G (p.Asn1925Lys)
n.2185T>G
n.432-808A>C
c.5421T>G (p.Asn1807Lys)
c.5064T>G (p.Asn1688Lys)
2g.166198831A>GCA429977923SCN1A-AS1,SCN9Ac.5808T>C (p.Asn1936=)
c.5652T>C (p.Asn1884=)
c.5775T>C (p.Asn1925=)
n.2185T>C
n.432-808A>G
c.5421T>C (p.Asn1807=)
c.5064T>C (p.Asn1688=)
 dbSNP gnomAD v3 gnomAD v4
2g.166198831A>TCA349051450SCN1A-AS1,SCN9Ac.5808T>A (p.Asn1936Lys)
c.5652T>A (p.Asn1884Lys)
c.5775T>A (p.Asn1925Lys)
n.2185T>A
n.432-808A>T
c.5421T>A (p.Asn1807Lys)
c.5064T>A (p.Asn1688Lys)
2g.166198833_166198835delCA1943611SCN1A-AS1,SCN9Ac.5806_5808del (p.Asn1936del)
c.5650_5652del (p.Asn1884del)
c.5773_5775del (p.Asn1925del)
n.2183_2185del
n.432-806_432-804del
c.5419_5421del (p.Asn1807del)
c.5062_5064del (p.Asn1688del)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.166198832T>ACA349051454SCN1A-AS1,SCN9Ac.5807A>T (p.Asn1936Ile)
c.5651A>T (p.Asn1884Ile)
c.5774A>T (p.Asn1925Ile)
n.2184A>T
n.432-807T>A
c.5420A>T (p.Asn1807Ile)
c.5063A>T (p.Asn1688Ile)
2g.166198832T>CCA349051452SCN1A-AS1,SCN9Ac.5807A>G (p.Asn1936Ser)
c.5651A>G (p.Asn1884Ser)
c.5774A>G (p.Asn1925Ser)
n.2184A>G
n.432-807T>C
c.5420A>G (p.Asn1807Ser)
c.5063A>G (p.Asn1688Ser)
2g.166198832T>GCA349051453SCN1A-AS1,SCN9Ac.5807A>C (p.Asn1936Thr)
c.5651A>C (p.Asn1884Thr)
c.5774A>C (p.Asn1925Thr)
n.2184A>C
n.432-807T>G
c.5420A>C (p.Asn1807Thr)
c.5063A>C (p.Asn1688Thr)
2g.166198833T>ACA349051455SCN1A-AS1,SCN9Ac.5806A>T (p.Asn1936Tyr)
c.5650A>T (p.Asn1884Tyr)
c.5773A>T (p.Asn1925Tyr)
n.2183A>T
n.432-806T>A
c.5419A>T (p.Asn1807Tyr)
c.5062A>T (p.Asn1688Tyr)
2g.166198833T>CCA349051456SCN1A-AS1,SCN9Ac.5806A>G (p.Asn1936Asp)
c.5650A>G (p.Asn1884Asp)
c.5773A>G (p.Asn1925Asp)
n.2183A>G
n.432-806T>C
c.5419A>G (p.Asn1807Asp)
c.5062A>G (p.Asn1688Asp)
2g.166198833T>GCA1943612SCN1A-AS1,SCN9Ac.5806A>C (p.Asn1936His)
c.5650A>C (p.Asn1884His)
c.5773A>C (p.Asn1925His)
n.2183A>C
n.432-806T>G
c.5419A>C (p.Asn1807His)
c.5062A>C (p.Asn1688His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198833T=CA1304929158SCN1A-AS1,SCN9Ac.5806A= (p.Asn1936=)
c.5650A= (p.Asn1884=)
c.5773A= (p.Asn1925=)
n.2183A=
n.432-806T=
c.5419A= (p.Asn1807=)
c.5062A= (p.Asn1688=)
2g.166198834A>CCA349051457SCN1A-AS1,SCN9Ac.5805T>G (p.Asp1935Glu)
c.5649T>G (p.Asp1883Glu)
c.5772T>G (p.Asp1924Glu)
n.2182T>G
n.432-805A>C
c.5418T>G (p.Asp1806Glu)
c.5061T>G (p.Asp1687Glu)
2g.166198834A>GCA429977927SCN1A-AS1,SCN9Ac.5805T>C (p.Asp1935=)
c.5649T>C (p.Asp1883=)
c.5772T>C (p.Asp1924=)
n.2182T>C
n.432-805A>G
c.5418T>C (p.Asp1806=)
c.5061T>C (p.Asp1687=)
 gnomAD v4
2g.166198834A>TCA349051458SCN1A-AS1,SCN9Ac.5805T>A (p.Asp1935Glu)
c.5649T>A (p.Asp1883Glu)
c.5772T>A (p.Asp1924Glu)
n.2182T>A
n.432-805A>T
c.5418T>A (p.Asp1806Glu)
c.5061T>A (p.Asp1687Glu)
2g.166198835_166198838dupCA2661764171SCN1A-AS1,SCN9Ac.5802_5805dup (p.Asn1936Ter)
c.5646_5649dup (p.Asn1884Ter)
c.5769_5772dup (p.Asn1925Ter)
n.2179_2182dup
n.432-804_432-801dup
c.5415_5418dup (p.Asn1807Ter)
c.5058_5061dup (p.Asn1688Ter)
 gnomAD v4
2g.166198835T>ACA349051459SCN1A-AS1,SCN9Ac.5804A>T (p.Asp1935Val)
c.5648A>T (p.Asp1883Val)
c.5771A>T (p.Asp1924Val)
n.2181A>T
n.432-804T>A
c.5417A>T (p.Asp1806Val)
c.5060A>T (p.Asp1687Val)
2g.166198835T>CCA349051460SCN1A-AS1,SCN9Ac.5804A>G (p.Asp1935Gly)
c.5648A>G (p.Asp1883Gly)
c.5771A>G (p.Asp1924Gly)
n.2181A>G
n.432-804T>C
c.5417A>G (p.Asp1806Gly)
c.5060A>G (p.Asp1687Gly)
2g.166198835T>GCA349051461SCN1A-AS1,SCN9Ac.5804A>C (p.Asp1935Ala)
c.5648A>C (p.Asp1883Ala)
c.5771A>C (p.Asp1924Ala)
n.2181A>C
n.432-804T>G
c.5417A>C (p.Asp1806Ala)
c.5060A>C (p.Asp1687Ala)
2g.166198836C>ACA349051462SCN1A-AS1,SCN9Ac.5803G>T (p.Asp1935Tyr)
c.5647G>T (p.Asp1883Tyr)
c.5770G>T (p.Asp1924Tyr)
n.2180G>T
n.432-803C>A
c.5416G>T (p.Asp1806Tyr)
c.5059G>T (p.Asp1687Tyr)
2g.166198836C=CA1304929159SCN1A-AS1,SCN9Ac.5803G= (p.Asp1935=)
c.5647G= (p.Asp1883=)
c.5770G= (p.Asp1924=)
n.2180G=
n.432-803C=
c.5416G= (p.Asp1806=)
c.5059G= (p.Asp1687=)
2g.166198836C>GCA349051463SCN1A-AS1,SCN9Ac.5803G>C (p.Asp1935His)
c.5647G>C (p.Asp1883His)
c.5770G>C (p.Asp1924His)
n.2180G>C
n.432-803C>G
c.5416G>C (p.Asp1806His)
c.5059G>C (p.Asp1687His)
2g.166198836C>TCA349051464SCN1A-AS1,SCN9Ac.5803G>A (p.Asp1935Asn)
c.5647G>A (p.Asp1883Asn)
c.5770G>A (p.Asp1924Asn)
n.2180G>A
n.432-803C>T
c.5416G>A (p.Asp1806Asn)
c.5059G>A (p.Asp1687Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.166198837A>CCA349051466SCN1A-AS1,SCN9Ac.5802T>G (p.Phe1934Leu)
c.5646T>G (p.Phe1882Leu)
c.5769T>G (p.Phe1923Leu)
n.2179T>G
n.432-802A>C
c.5415T>G (p.Phe1805Leu)
c.5058T>G (p.Phe1686Leu)
2g.166198837A>GCA429977933SCN1A-AS1,SCN9Ac.5802T>C (p.Phe1934=)
c.5646T>C (p.Phe1882=)
c.5769T>C (p.Phe1923=)
n.2179T>C
n.432-802A>G
c.5415T>C (p.Phe1805=)
c.5058T>C (p.Phe1686=)
2g.166198837A>TCA349051465SCN1A-AS1,SCN9Ac.5802T>A (p.Phe1934Leu)
c.5646T>A (p.Phe1882Leu)
c.5769T>A (p.Phe1923Leu)
n.2179T>A
n.432-802A>T
c.5415T>A (p.Phe1805Leu)
c.5058T>A (p.Phe1686Leu)
2g.166198838A>CCA349051467SCN1A-AS1,SCN9Ac.5801T>G (p.Phe1934Cys)
c.5645T>G (p.Phe1882Cys)
c.5768T>G (p.Phe1923Cys)
n.2178T>G
n.432-801A>C
c.5414T>G (p.Phe1805Cys)
c.5057T>G (p.Phe1686Cys)
2g.166198838A>GCA349051468SCN1A-AS1,SCN9Ac.5801T>C (p.Phe1934Ser)
c.5645T>C (p.Phe1882Ser)
c.5768T>C (p.Phe1923Ser)
n.2178T>C
n.432-801A>G
c.5414T>C (p.Phe1805Ser)
c.5057T>C (p.Phe1686Ser)
2g.166198838A>TCA349051469SCN1A-AS1,SCN9Ac.5801T>A (p.Phe1934Tyr)
c.5645T>A (p.Phe1882Tyr)
c.5768T>A (p.Phe1923Tyr)
n.2178T>A
n.432-801A>T
c.5414T>A (p.Phe1805Tyr)
c.5057T>A (p.Phe1686Tyr)
2g.166198839A>CCA349051470SCN1A-AS1,SCN9Ac.5800T>G (p.Phe1934Val)
c.5644T>G (p.Phe1882Val)
c.5767T>G (p.Phe1923Val)
n.2177T>G
n.432-800A>C
c.5413T>G (p.Phe1805Val)
c.5056T>G (p.Phe1686Val)
2g.166198839A>GCA349051471SCN1A-AS1,SCN9Ac.5800T>C (p.Phe1934Leu)
c.5644T>C (p.Phe1882Leu)
c.5767T>C (p.Phe1923Leu)
n.2177T>C
n.432-800A>G
c.5413T>C (p.Phe1805Leu)
c.5056T>C (p.Phe1686Leu)
2g.166198839A>TCA349051472SCN1A-AS1,SCN9Ac.5800T>A (p.Phe1934Ile)
c.5644T>A (p.Phe1882Ile)
c.5767T>A (p.Phe1923Ile)
n.2177T>A
n.432-800A>T
c.5413T>A (p.Phe1805Ile)
c.5056T>A (p.Phe1686Ile)
2g.166198840A=CA1304929160SCN1A-AS1,SCN9Ac.5799T= (p.Ala1933=)
c.5643T= (p.Ala1881=)
c.5766T= (p.Ala1922=)
n.2176T=
n.432-799A=
c.5412T= (p.Ala1804=)
c.5055T= (p.Ala1685=)
2g.166198840A>CCA429977936SCN1A-AS1,SCN9Ac.5799T>G (p.Ala1933=)
c.5643T>G (p.Ala1881=)
c.5766T>G (p.Ala1922=)
n.2176T>G
n.432-799A>C
c.5412T>G (p.Ala1804=)
c.5055T>G (p.Ala1685=)
2g.166198840A>GCA429977938SCN1A-AS1,SCN9Ac.5799T>C (p.Ala1933=)
c.5643T>C (p.Ala1881=)
c.5766T>C (p.Ala1922=)
n.2176T>C
n.432-799A>G
c.5412T>C (p.Ala1804=)
c.5055T>C (p.Ala1685=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166198840A>TCA429977940SCN1A-AS1,SCN9Ac.5799T>A (p.Ala1933=)
c.5643T>A (p.Ala1881=)
c.5766T>A (p.Ala1922=)
n.2176T>A
n.432-799A>T
c.5412T>A (p.Ala1804=)
c.5055T>A (p.Ala1685=)
2g.166198841G>ACA349051473SCN1A-AS1,SCN9Ac.5798C>T (p.Ala1933Val)
c.5642C>T (p.Ala1881Val)
c.5765C>T (p.Ala1922Val)
n.2175C>T
n.432-798G>A
c.5411C>T (p.Ala1804Val)
c.5054C>T (p.Ala1685Val)
2g.166198841G>CCA349051474SCN1A-AS1,SCN9Ac.5798C>G (p.Ala1933Gly)
c.5642C>G (p.Ala1881Gly)
c.5765C>G (p.Ala1922Gly)
n.2175C>G
n.432-798G>C
c.5411C>G (p.Ala1804Gly)
c.5054C>G (p.Ala1685Gly)
 gnomAD v4
2g.166198841G=CA1304929161SCN1A-AS1,SCN9Ac.5798C= (p.Ala1933=)
c.5642C= (p.Ala1881=)
c.5765C= (p.Ala1922=)
n.2175C=
n.432-798G=
c.5411C= (p.Ala1804=)
c.5054C= (p.Ala1685=)
2g.166198841G>TCA349051475SCN1A-AS1,SCN9Ac.5798C>A (p.Ala1933Asp)
c.5642C>A (p.Ala1881Asp)
c.5765C>A (p.Ala1922Asp)
n.2175C>A
n.432-798G>T
c.5411C>A (p.Ala1804Asp)
c.5054C>A (p.Ala1685Asp)
 gnomAD v4
2g.166198842C>ACA349051476SCN1A-AS1,SCN9Ac.5797G>T (p.Ala1933Ser)
c.5641G>T (p.Ala1881Ser)
c.5764G>T (p.Ala1922Ser)
n.2174G>T
n.432-797C>A
c.5410G>T (p.Ala1804Ser)
c.5053G>T (p.Ala1685Ser)
2g.166198842C>GCA349051477SCN1A-AS1,SCN9Ac.5797G>C (p.Ala1933Pro)
c.5641G>C (p.Ala1881Pro)
c.5764G>C (p.Ala1922Pro)
n.2174G>C
n.432-797C>G
c.5410G>C (p.Ala1804Pro)
c.5053G>C (p.Ala1685Pro)
2g.166198842C>TCA349051478SCN1A-AS1,SCN9Ac.5797G>A (p.Ala1933Thr)
c.5641G>A (p.Ala1881Thr)
c.5764G>A (p.Ala1922Thr)
n.2174G>A
n.432-797C>T
c.5410G>A (p.Ala1804Thr)
c.5053G>A (p.Ala1685Thr)
 gnomAD v4
2g.166198842_166198849dupCA1943613SCN1A-AS1,SCN9Ac.5790_5797dup (p.Ala1933GlufsTer32)
c.5634_5641dup (p.Ala1881GlufsTer32)
c.5757_5764dup (p.Ala1922GlufsTer32)
n.2167_2174dup
n.432-797_432-790dup
c.5403_5410dup (p.Ala1804GlufsTer32)
c.5046_5053dup (p.Ala1685GlufsTer32)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198843C>ACA349051481SCN1A-AS1,SCN9Ac.5796G>T (p.Met1932Ile)
c.5640G>T (p.Met1880Ile)
c.5763G>T (p.Met1921Ile)
n.2173G>T
n.432-796C>A
c.5409G>T (p.Met1803Ile)
c.5052G>T (p.Met1684Ile)
 gnomAD v4
2g.166198843C=CA1304929162SCN1A-AS1,SCN9Ac.5796G= (p.Met1932=)
c.5640G= (p.Met1880=)
c.5763G= (p.Met1921=)
n.2173G=
n.432-796C=
c.5409G= (p.Met1803=)
c.5052G= (p.Met1684=)
2g.166198843C>GCA349051480SCN1A-AS1,SCN9Ac.5796G>C (p.Met1932Ile)
c.5640G>C (p.Met1880Ile)
c.5763G>C (p.Met1921Ile)
n.2173G>C
n.432-796C>G
c.5409G>C (p.Met1803Ile)
c.5052G>C (p.Met1684Ile)
2g.166198843C>TCA349051479SCN1A-AS1,SCN9Ac.5796G>A (p.Met1932Ile)
c.5640G>A (p.Met1880Ile)
c.5763G>A (p.Met1921Ile)
n.2173G>A
n.432-796C>T
c.5409G>A (p.Met1803Ile)
c.5052G>A (p.Met1684Ile)
 ClinVar dbSNP gnomAD v4
2g.166198844A=CA1304929163SCN1A-AS1,SCN9Ac.5795T= (p.Met1932=)
c.5639T= (p.Met1880=)
c.5762T= (p.Met1921=)
n.2172T=
n.432-795A=
c.5408T= (p.Met1803=)
c.5051T= (p.Met1684=)
2g.166198844A>CCA349051482SCN1A-AS1,SCN9Ac.5795T>G (p.Met1932Arg)
c.5639T>G (p.Met1880Arg)
c.5762T>G (p.Met1921Arg)
n.2172T>G
n.432-795A>C
c.5408T>G (p.Met1803Arg)
c.5051T>G (p.Met1684Arg)
2g.166198844A>GCA59782861SCN1A-AS1,SCN9Ac.5795T>C (p.Met1932Thr)
c.5639T>C (p.Met1880Thr)
c.5762T>C (p.Met1921Thr)
n.2172T>C
n.432-795A>G
c.5408T>C (p.Met1803Thr)
c.5051T>C (p.Met1684Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198844A>TCA349051483SCN1A-AS1,SCN9Ac.5795T>A (p.Met1932Lys)
c.5639T>A (p.Met1880Lys)
c.5762T>A (p.Met1921Lys)
n.2172T>A
n.432-795A>T
c.5408T>A (p.Met1803Lys)
c.5051T>A (p.Met1684Lys)
2g.166198846_166198847delCA2577144740SCN1A-AS1,SCN9Ac.5794_5795del (p.Met1932GlyfsTer3)
c.5638_5639del (p.Met1880GlyfsTer3)
c.5761_5762del (p.Met1921GlyfsTer3)
n.2171_2172del
n.432-793_432-792del
c.5407_5408del (p.Met1803GlyfsTer3)
c.5050_5051del (p.Met1684GlyfsTer3)
 gnomAD v4
2g.166198845T>ACA349051484SCN1A-AS1,SCN9Ac.5794A>T (p.Met1932Leu)
c.5638A>T (p.Met1880Leu)
c.5761A>T (p.Met1921Leu)
n.2171A>T
n.432-794T>A
c.5407A>T (p.Met1803Leu)
c.5050A>T (p.Met1684Leu)
2g.166198845T>CCA349051485SCN1A-AS1,SCN9Ac.5794A>G (p.Met1932Val)
c.5638A>G (p.Met1880Val)
c.5761A>G (p.Met1921Val)
n.2171A>G
n.432-794T>C
c.5407A>G (p.Met1803Val)
c.5050A>G (p.Met1684Val)
 dbSNP gnomAD v4
2g.166198845T>GCA349051486SCN1A-AS1,SCN9Ac.5794A>C (p.Met1932Leu)
c.5638A>C (p.Met1880Leu)
c.5761A>C (p.Met1921Leu)
n.2171A>C
n.432-794T>G
c.5407A>C (p.Met1803Leu)
c.5050A>C (p.Met1684Leu)
2g.166198845T=CA1304929164SCN1A-AS1,SCN9Ac.5794A= (p.Met1932=)
c.5638A= (p.Met1880=)
c.5761A= (p.Met1921=)
n.2171A=
n.432-794T=
c.5407A= (p.Met1803=)
c.5050A= (p.Met1684=)
2g.166198845dupCA2661764172SCN1A-AS1,SCN9Ac.5794dup (p.Met1932AsnfsTer4)
c.5638dup (p.Met1880AsnfsTer4)
c.5761dup (p.Met1921AsnfsTer4)
n.2171dup
n.432-794dup
c.5407dup (p.Met1803AsnfsTer4)
c.5050dup (p.Met1684AsnfsTer4)
 gnomAD v4
2g.166198846_166198849dupCA2661764173SCN1A-AS1,SCN9Ac.5791_5794dup (p.Met1932ArgfsTer5)
c.5635_5638dup (p.Met1880ArgfsTer5)
c.5758_5761dup (p.Met1921ArgfsTer5)
n.2168_2171dup
n.432-793_432-790dup
c.5404_5407dup (p.Met1803ArgfsTer5)
c.5047_5050dup (p.Met1684ArgfsTer5)
 gnomAD v4
2g.166198846A>CCA349051487SCN1A-AS1,SCN9Ac.5793T>G (p.Asp1931Glu)
c.5637T>G (p.Asp1879Glu)
c.5760T>G (p.Asp1920Glu)
n.2170T>G
n.432-793A>C
c.5406T>G (p.Asp1802Glu)
c.5049T>G (p.Asp1683Glu)
2g.166198846A>GCA429977945SCN1A-AS1,SCN9Ac.5793T>C (p.Asp1931=)
c.5637T>C (p.Asp1879=)
c.5760T>C (p.Asp1920=)
n.2170T>C
n.432-793A>G
c.5406T>C (p.Asp1802=)
c.5049T>C (p.Asp1683=)
2g.166198846A>TCA349051488SCN1A-AS1,SCN9Ac.5793T>A (p.Asp1931Glu)
c.5637T>A (p.Asp1879Glu)
c.5760T>A (p.Asp1920Glu)
n.2170T>A
n.432-793A>T
c.5406T>A (p.Asp1802Glu)
c.5049T>A (p.Asp1683Glu)
2g.166198847T>ACA349051489SCN1A-AS1,SCN9Ac.5792A>T (p.Asp1931Val)
c.5636A>T (p.Asp1879Val)
c.5759A>T (p.Asp1920Val)
n.2169A>T
n.432-792T>A
c.5405A>T (p.Asp1802Val)
c.5048A>T (p.Asp1683Val)
 ClinVar dbSNP
2g.166198847T>CCA349051490SCN1A-AS1,SCN9Ac.5792A>G (p.Asp1931Gly)
c.5636A>G (p.Asp1879Gly)
c.5759A>G (p.Asp1920Gly)
n.2169A>G
n.432-792T>C
c.5405A>G (p.Asp1802Gly)
c.5048A>G (p.Asp1683Gly)
2g.166198847T>GCA349051491SCN1A-AS1,SCN9Ac.5792A>C (p.Asp1931Ala)
c.5636A>C (p.Asp1879Ala)
c.5759A>C (p.Asp1920Ala)
n.2169A>C
n.432-792T>G
c.5405A>C (p.Asp1802Ala)
c.5048A>C (p.Asp1683Ala)
2g.166198847T=CA1304929165SCN1A-AS1,SCN9Ac.5792A= (p.Asp1931=)
c.5636A= (p.Asp1879=)
c.5759A= (p.Asp1920=)
n.2169A=
n.432-792T=
c.5405A= (p.Asp1802=)
c.5048A= (p.Asp1683=)
2g.166198848C>ACA349051492SCN1A-AS1,SCN9Ac.5791G>T (p.Asp1931Tyr)
c.5635G>T (p.Asp1879Tyr)
c.5758G>T (p.Asp1920Tyr)
n.2168G>T
n.432-791C>A
c.5404G>T (p.Asp1802Tyr)
c.5047G>T (p.Asp1683Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166198848C=CA1304929167SCN1A-AS1,SCN9Ac.5791G= (p.Asp1931=)
c.5635G= (p.Asp1879=)
c.5758G= (p.Asp1920=)
n.2168G=
n.432-791C=
c.5404G= (p.Asp1802=)
c.5047G= (p.Asp1683=)
2g.166198848C>GCA1943614SCN1A-AS1,SCN9Ac.5791G>C (p.Asp1931His)
c.5635G>C (p.Asp1879His)
c.5758G>C (p.Asp1920His)
n.2168G>C
n.432-791C>G
c.5404G>C (p.Asp1802His)
c.5047G>C (p.Asp1683His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198848C>TCA349051493SCN1A-AS1,SCN9Ac.5791G>A (p.Asp1931Asn)
c.5635G>A (p.Asp1879Asn)
c.5758G>A (p.Asp1920Asn)
n.2168G>A
n.432-791C>T
c.5404G>A (p.Asp1802Asn)
c.5047G>A (p.Asp1683Asn)
2g.166198848_166198849delinsCTCA1304929166SCN1A-AS1,SCN9Ac.5790_5791delinsAG (p.Lys1930=)
c.5634_5635delinsAG (p.Lys1878=)
c.5757_5758delinsAG (p.Lys1919=)
n.2167_2168delinsAG
n.432-791_432-790delinsCT
c.5403_5404delinsAG (p.Lys1801=)
c.5046_5047delinsAG (p.Lys1682=)
2g.166198849T>ACA349051494SCN1A-AS1,SCN9Ac.5790A>T (p.Lys1930Asn)
c.5634A>T (p.Lys1878Asn)
c.5757A>T (p.Lys1919Asn)
n.2167A>T
n.432-790T>A
c.5403A>T (p.Lys1801Asn)
c.5046A>T (p.Lys1682Asn)
2g.166198849T>CCA429977949SCN1A-AS1,SCN9Ac.5790A>G (p.Lys1930=)
c.5634A>G (p.Lys1878=)
c.5757A>G (p.Lys1919=)
n.2167A>G
n.432-790T>C
c.5403A>G (p.Lys1801=)
c.5046A>G (p.Lys1682=)
2g.166198849T>GCA349051495SCN1A-AS1,SCN9Ac.5790A>C (p.Lys1930Asn)
c.5634A>C (p.Lys1878Asn)
c.5757A>C (p.Lys1919Asn)
n.2167A>C
n.432-790T>G
c.5403A>C (p.Lys1801Asn)
c.5046A>C (p.Lys1682Asn)
2g.166198854dupCA2606309664SCN1A-AS1,SCN9Ac.5790dup (p.Asp1931ArgfsTer5)
c.5634dup (p.Asp1879ArgfsTer5)
c.5757dup (p.Asp1920ArgfsTer5)
n.2167dup
n.432-785dup
c.5403dup (p.Asp1802ArgfsTer5)
c.5046dup (p.Asp1683ArgfsTer5)
 gnomAD v3 gnomAD v4
2g.166198854delCA1304929168SCN1A-AS1,SCN9Ac.5790del (p.Asp1931IlefsTer?)
c.5634del (p.Asp1879IlefsTer?)
c.5757del (p.Asp1920IlefsTer?)
n.2167del
n.432-785del
c.5403del (p.Asp1802IlefsTer?)
c.5046del (p.Asp1683IlefsTer?)
 dbSNP
2g.166198850T>ACA349051496SCN1A-AS1,SCN9Ac.5789A>T (p.Lys1930Ile)
c.5633A>T (p.Lys1878Ile)
c.5756A>T (p.Lys1919Ile)
n.2166A>T
n.432-789T>A
c.5402A>T (p.Lys1801Ile)
c.5045A>T (p.Lys1682Ile)
2g.166198850T>CCA349051498SCN1A-AS1,SCN9Ac.5789A>G (p.Lys1930Arg)
c.5633A>G (p.Lys1878Arg)
c.5756A>G (p.Lys1919Arg)
n.2166A>G
n.432-789T>C
c.5402A>G (p.Lys1801Arg)
c.5045A>G (p.Lys1682Arg)
2g.166198850T>GCA349051497SCN1A-AS1,SCN9Ac.5789A>C (p.Lys1930Thr)
c.5633A>C (p.Lys1878Thr)
c.5756A>C (p.Lys1919Thr)
n.2166A>C
n.432-789T>G
c.5402A>C (p.Lys1801Thr)
c.5045A>C (p.Lys1682Thr)
2g.166198851T>ACA349051499SCN1A-AS1,SCN9Ac.5788A>T (p.Lys1930Ter)
c.5632A>T (p.Lys1878Ter)
c.5755A>T (p.Lys1919Ter)
n.2165A>T
n.432-788T>A
c.5401A>T (p.Lys1801Ter)
c.5044A>T (p.Lys1682Ter)
 dbSNP
2g.166198851T>CCA349051500SCN1A-AS1,SCN9Ac.5788A>G (p.Lys1930Glu)
c.5632A>G (p.Lys1878Glu)
c.5755A>G (p.Lys1919Glu)
n.2165A>G
n.432-788T>C
c.5401A>G (p.Lys1801Glu)
c.5044A>G (p.Lys1682Glu)
 gnomAD v4
2g.166198851T>GCA349051501SCN1A-AS1,SCN9Ac.5788A>C (p.Lys1930Gln)
c.5632A>C (p.Lys1878Gln)
c.5755A>C (p.Lys1919Gln)
n.2165A>C
n.432-788T>G
c.5401A>C (p.Lys1801Gln)
c.5044A>C (p.Lys1682Gln)
2g.166198851T=CA1304929169SCN1A-AS1,SCN9Ac.5788A= (p.Lys1930=)
c.5632A= (p.Lys1878=)
c.5755A= (p.Lys1919=)
n.2165A=
n.432-788T=
c.5401A= (p.Lys1801=)
c.5044A= (p.Lys1682=)
2g.166198852T>ACA349051502SCN1A-AS1,SCN9Ac.5787A>T (p.Lys1929Asn)
c.5631A>T (p.Lys1877Asn)
c.5754A>T (p.Lys1918Asn)
n.2164A>T
n.432-787T>A
c.5400A>T (p.Lys1800Asn)
c.5043A>T (p.Lys1681Asn)
2g.166198852T>CCA429977960SCN1A-AS1,SCN9Ac.5787A>G (p.Lys1929=)
c.5631A>G (p.Lys1877=)
c.5754A>G (p.Lys1918=)
n.2164A>G
n.432-787T>C
c.5400A>G (p.Lys1800=)
c.5043A>G (p.Lys1681=)
2g.166198852T>GCA349051503SCN1A-AS1,SCN9Ac.5787A>C (p.Lys1929Asn)
c.5631A>C (p.Lys1877Asn)
c.5754A>C (p.Lys1918Asn)
n.2164A>C
n.432-787T>G
c.5400A>C (p.Lys1800Asn)
c.5043A>C (p.Lys1681Asn)
2g.166198853T>ACA349051504SCN1A-AS1,SCN9Ac.5786A>T (p.Lys1929Ile)
c.5630A>T (p.Lys1877Ile)
c.5753A>T (p.Lys1918Ile)
n.2163A>T
n.432-786T>A
c.5399A>T (p.Lys1800Ile)
c.5042A>T (p.Lys1681Ile)
2g.166198853T>CCA349051505SCN1A-AS1,SCN9Ac.5786A>G (p.Lys1929Arg)
c.5630A>G (p.Lys1877Arg)
c.5753A>G (p.Lys1918Arg)
n.2163A>G
n.432-786T>C
c.5399A>G (p.Lys1800Arg)
c.5042A>G (p.Lys1681Arg)
2g.166198853T>GCA349051506SCN1A-AS1,SCN9Ac.5786A>C (p.Lys1929Thr)
c.5630A>C (p.Lys1877Thr)
c.5753A>C (p.Lys1918Thr)
n.2163A>C
n.432-786T>G
c.5399A>C (p.Lys1800Thr)
c.5042A>C (p.Lys1681Thr)
2g.166198854T>ACA349051507SCN1A-AS1,SCN9Ac.5785A>T (p.Lys1929Ter)
c.5629A>T (p.Lys1877Ter)
c.5752A>T (p.Lys1918Ter)
n.2162A>T
n.432-785T>A
c.5398A>T (p.Lys1800Ter)
c.5041A>T (p.Lys1681Ter)
 dbSNP
2g.166198854T>CCA349051508SCN1A-AS1,SCN9Ac.5785A>G (p.Lys1929Glu)
c.5629A>G (p.Lys1877Glu)
c.5752A>G (p.Lys1918Glu)
n.2162A>G
n.432-785T>C
c.5398A>G (p.Lys1800Glu)
c.5041A>G (p.Lys1681Glu)
2g.166198854T>GCA349051509SCN1A-AS1,SCN9Ac.5785A>C (p.Lys1929Gln)
c.5629A>C (p.Lys1877Gln)
c.5752A>C (p.Lys1918Gln)
n.2162A>C
n.432-785T>G
c.5398A>C (p.Lys1800Gln)
c.5041A>C (p.Lys1681Gln)
2g.166198854T=CA1304929170SCN1A-AS1,SCN9Ac.5785A= (p.Lys1929=)
c.5629A= (p.Lys1877=)
c.5752A= (p.Lys1918=)
n.2162A=
n.432-785T=
c.5398A= (p.Lys1800=)
c.5041A= (p.Lys1681=)
2g.166198855A=CA1304929171SCN1A-AS1,SCN9Ac.5784T= (p.Asn1928=)
c.5628T= (p.Asn1876=)
c.5751T= (p.Asn1917=)
n.2161T=
n.432-784A=
c.5397T= (p.Asn1799=)
c.5040T= (p.Asn1680=)
2g.166198855A>CCA349051511SCN1A-AS1,SCN9Ac.5784T>G (p.Asn1928Lys)
c.5628T>G (p.Asn1876Lys)
c.5751T>G (p.Asn1917Lys)
n.2161T>G
n.432-784A>C
c.5397T>G (p.Asn1799Lys)
c.5040T>G (p.Asn1680Lys)
 dbSNP
2g.166198855A>GCA429977965SCN1A-AS1,SCN9Ac.5784T>C (p.Asn1928=)
c.5628T>C (p.Asn1876=)
c.5751T>C (p.Asn1917=)
n.2161T>C
n.432-784A>G
c.5397T>C (p.Asn1799=)
c.5040T>C (p.Asn1680=)
2g.166198855A>TCA349051510SCN1A-AS1,SCN9Ac.5784T>A (p.Asn1928Lys)
c.5628T>A (p.Asn1876Lys)
c.5751T>A (p.Asn1917Lys)
n.2161T>A
n.432-784A>T
c.5397T>A (p.Asn1799Lys)
c.5040T>A (p.Asn1680Lys)
2g.166198856T>ACA349051512SCN1A-AS1,SCN9Ac.5783A>T (p.Asn1928Ile)
c.5627A>T (p.Asn1876Ile)
c.5750A>T (p.Asn1917Ile)
n.2160A>T
n.432-783T>A
c.5396A>T (p.Asn1799Ile)
c.5039A>T (p.Asn1680Ile)
2g.166198856T>CCA349051513SCN1A-AS1,SCN9Ac.5783A>G (p.Asn1928Ser)
c.5627A>G (p.Asn1876Ser)
c.5750A>G (p.Asn1917Ser)
n.2160A>G
n.432-783T>C
c.5396A>G (p.Asn1799Ser)
c.5039A>G (p.Asn1680Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198856T>GCA349051514SCN1A-AS1,SCN9Ac.5783A>C (p.Asn1928Thr)
c.5627A>C (p.Asn1876Thr)
c.5750A>C (p.Asn1917Thr)
n.2160A>C
n.432-783T>G
c.5396A>C (p.Asn1799Thr)
c.5039A>C (p.Asn1680Thr)
2g.166198856T=CA1304929172SCN1A-AS1,SCN9Ac.5783A= (p.Asn1928=)
c.5627A= (p.Asn1876=)
c.5750A= (p.Asn1917=)
n.2160A=
n.432-783T=
c.5396A= (p.Asn1799=)
c.5039A= (p.Asn1680=)
2g.166198857T>ACA349051515SCN1A-AS1,SCN9Ac.5782A>T (p.Asn1928Tyr)
c.5626A>T (p.Asn1876Tyr)
c.5749A>T (p.Asn1917Tyr)
n.2159A>T
n.432-782T>A
c.5395A>T (p.Asn1799Tyr)
c.5038A>T (p.Asn1680Tyr)
2g.166198857T>CCA349051516SCN1A-AS1,SCN9Ac.5782A>G (p.Asn1928Asp)
c.5626A>G (p.Asn1876Asp)
c.5749A>G (p.Asn1917Asp)
n.2159A>G
n.432-782T>C
c.5395A>G (p.Asn1799Asp)
c.5038A>G (p.Asn1680Asp)
2g.166198857T>GCA349051517SCN1A-AS1,SCN9Ac.5782A>C (p.Asn1928His)
c.5626A>C (p.Asn1876His)
c.5749A>C (p.Asn1917His)
n.2159A>C
n.432-782T>G
c.5395A>C (p.Asn1799His)
c.5038A>C (p.Asn1680His)
2g.166198858G>ACA429977971SCN1A-AS1,SCN9Ac.5781C>T (p.Leu1927=)
c.5625C>T (p.Leu1875=)
c.5748C>T (p.Leu1916=)
n.2158C>T
n.432-781G>A
c.5394C>T (p.Leu1798=)
c.5037C>T (p.Leu1679=)
2g.166198858G>CCA429977973SCN1A-AS1,SCN9Ac.5781C>G (p.Leu1927=)
c.5625C>G (p.Leu1875=)
c.5748C>G (p.Leu1916=)
n.2158C>G
n.432-781G>C
c.5394C>G (p.Leu1798=)
c.5037C>G (p.Leu1679=)
2g.166198858G>TCA429977975SCN1A-AS1,SCN9Ac.5781C>A (p.Leu1927=)
c.5625C>A (p.Leu1875=)
c.5748C>A (p.Leu1916=)
n.2158C>A
n.432-781G>T
c.5394C>A (p.Leu1798=)
c.5037C>A (p.Leu1679=)
2g.166198859A>CCA349051520SCN1A-AS1,SCN9Ac.5780T>G (p.Leu1927Arg)
c.5624T>G (p.Leu1875Arg)
c.5747T>G (p.Leu1916Arg)
n.2157T>G
n.432-780A>C
c.5393T>G (p.Leu1798Arg)
c.5036T>G (p.Leu1679Arg)
2g.166198859A>GCA349051518SCN1A-AS1,SCN9Ac.5780T>C (p.Leu1927Pro)
c.5624T>C (p.Leu1875Pro)
c.5747T>C (p.Leu1916Pro)
n.2157T>C
n.432-780A>G
c.5393T>C (p.Leu1798Pro)
c.5036T>C (p.Leu1679Pro)
2g.166198859A>TCA349051519SCN1A-AS1,SCN9Ac.5780T>A (p.Leu1927His)
c.5624T>A (p.Leu1875His)
c.5747T>A (p.Leu1916His)
n.2157T>A
n.432-780A>T
c.5393T>A (p.Leu1798His)
c.5036T>A (p.Leu1679His)
2g.166198860G>ACA202084SCN1A-AS1,SCN9Ac.5779C>T (p.Leu1927Phe)
c.5623C>T (p.Leu1875Phe)
c.5746C>T (p.Leu1916Phe)
n.2156C>T
n.432-779G>A
c.5392C>T (p.Leu1798Phe)
c.5035C>T (p.Leu1679Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166198860G>CCA349051521SCN1A-AS1,SCN9Ac.5779C>G (p.Leu1927Val)
c.5623C>G (p.Leu1875Val)
c.5746C>G (p.Leu1916Val)
n.2156C>G
n.432-779G>C
c.5392C>G (p.Leu1798Val)
c.5035C>G (p.Leu1679Val)
2g.166198860G=CA1304929173SCN1A-AS1,SCN9Ac.5779C= (p.Leu1927=)
c.5623C= (p.Leu1875=)
c.5746C= (p.Leu1916=)
n.2156C=
n.432-779G=
c.5392C= (p.Leu1798=)
c.5035C= (p.Leu1679=)
2g.166198860G>TCA349051522SCN1A-AS1,SCN9Ac.5779C>A (p.Leu1927Ile)
c.5623C>A (p.Leu1875Ile)
c.5746C>A (p.Leu1916Ile)
n.2156C>A
n.432-779G>T
c.5392C>A (p.Leu1798Ile)
c.5035C>A (p.Leu1679Ile)
2g.166198861T>ACA349051523SCN1A-AS1,SCN9Ac.5778A>T (p.Leu1926Phe)
c.5622A>T (p.Leu1874Phe)
c.5745A>T (p.Leu1915Phe)
n.2155A>T
n.432-778T>A
c.5391A>T (p.Leu1797Phe)
c.5034A>T (p.Leu1678Phe)
2g.166198861T>CCA429977978SCN1A-AS1,SCN9Ac.5778A>G (p.Leu1926=)
c.5622A>G (p.Leu1874=)
c.5745A>G (p.Leu1915=)
n.2155A>G
n.432-778T>C
c.5391A>G (p.Leu1797=)
c.5034A>G (p.Leu1678=)
2g.166198861T>GCA349051524SCN1A-AS1,SCN9Ac.5778A>C (p.Leu1926Phe)
c.5622A>C (p.Leu1874Phe)
c.5745A>C (p.Leu1915Phe)
n.2155A>C
n.432-778T>G
c.5391A>C (p.Leu1797Phe)
c.5034A>C (p.Leu1678Phe)
2g.166198862A>CCA349051527SCN1A-AS1,SCN9Ac.5777T>G (p.Leu1926Ter)
c.5621T>G (p.Leu1874Ter)
c.5744T>G (p.Leu1915Ter)
n.2154T>G
n.432-777A>C
c.5390T>G (p.Leu1797Ter)
c.5033T>G (p.Leu1678Ter)
2g.166198862A>GCA349051525SCN1A-AS1,SCN9Ac.5777T>C (p.Leu1926Ser)
c.5621T>C (p.Leu1874Ser)
c.5744T>C (p.Leu1915Ser)
n.2154T>C
n.432-777A>G
c.5390T>C (p.Leu1797Ser)
c.5033T>C (p.Leu1678Ser)
 ClinVar
2g.166198862A>TCA349051526SCN1A-AS1,SCN9Ac.5777T>A (p.Leu1926Ter)
c.5621T>A (p.Leu1874Ter)
c.5744T>A (p.Leu1915Ter)
n.2154T>A
n.432-777A>T
c.5390T>A (p.Leu1797Ter)
c.5033T>A (p.Leu1678Ter)
2g.166198863A=CA1304929174SCN1A-AS1,SCN9Ac.5776T= (p.Leu1926=)
c.5620T= (p.Leu1874=)
c.5743T= (p.Leu1915=)
n.2153T=
n.432-776A=
c.5389T= (p.Leu1797=)
c.5032T= (p.Leu1678=)
2g.166198863A>CCA349051528SCN1A-AS1,SCN9Ac.5776T>G (p.Leu1926Val)
c.5620T>G (p.Leu1874Val)
c.5743T>G (p.Leu1915Val)
n.2153T>G
n.432-776A>C
c.5389T>G (p.Leu1797Val)
c.5032T>G (p.Leu1678Val)
2g.166198863A>GCA429977983SCN1A-AS1,SCN9Ac.5776T>C (p.Leu1926=)
c.5620T>C (p.Leu1874=)
c.5743T>C (p.Leu1915=)
n.2153T>C
n.432-776A>G
c.5389T>C (p.Leu1797=)
c.5032T>C (p.Leu1678=)
2g.166198863A>TCA59782871SCN1A-AS1,SCN9Ac.5776T>A (p.Leu1926Ile)
c.5620T>A (p.Leu1874Ile)
c.5743T>A (p.Leu1915Ile)
n.2153T>A
n.432-776A>T
c.5389T>A (p.Leu1797Ile)
c.5032T>A (p.Leu1678Ile)
 ClinVar dbSNP gnomAD v4
2g.166198864A=CA1304929175SCN1A-AS1,SCN9Ac.5775T= (p.Asp1925=)
c.5619T= (p.Asp1873=)
c.5742T= (p.Asp1914=)
n.2152T=
n.432-775A=
c.5388T= (p.Asp1796=)
c.5031T= (p.Asp1677=)
2g.166198864A>CCA349051529SCN1A-AS1,SCN9Ac.5775T>G (p.Asp1925Glu)
c.5619T>G (p.Asp1873Glu)
c.5742T>G (p.Asp1914Glu)
n.2152T>G
n.432-775A>C
c.5388T>G (p.Asp1796Glu)
c.5031T>G (p.Asp1677Glu)
2g.166198864A>GCA59782876SCN1A-AS1,SCN9Ac.5775T>C (p.Asp1925=)
c.5619T>C (p.Asp1873=)
c.5742T>C (p.Asp1914=)
n.2152T>C
n.432-775A>G
c.5388T>C (p.Asp1796=)
c.5031T>C (p.Asp1677=)
 ClinVar dbSNP gnomAD v4
2g.166198864A>TCA349051530SCN1A-AS1,SCN9Ac.5775T>A (p.Asp1925Glu)
c.5619T>A (p.Asp1873Glu)
c.5742T>A (p.Asp1914Glu)
n.2152T>A
n.432-775A>T
c.5388T>A (p.Asp1796Glu)
c.5031T>A (p.Asp1677Glu)
2g.166198865T>ACA349051531SCN1A-AS1,SCN9Ac.5774A>T (p.Asp1925Val)
c.5618A>T (p.Asp1873Val)
c.5741A>T (p.Asp1914Val)
n.2151A>T
n.432-774T>A
c.5387A>T (p.Asp1796Val)
c.5030A>T (p.Asp1677Val)
 ClinVar dbSNP
2g.166198865T>CCA349051532SCN1A-AS1,SCN9Ac.5774A>G (p.Asp1925Gly)
c.5618A>G (p.Asp1873Gly)
c.5741A>G (p.Asp1914Gly)
n.2151A>G
n.432-774T>C
c.5387A>G (p.Asp1796Gly)
c.5030A>G (p.Asp1677Gly)
2g.166198865T>GCA349051533SCN1A-AS1,SCN9Ac.5774A>C (p.Asp1925Ala)
c.5618A>C (p.Asp1873Ala)
c.5741A>C (p.Asp1914Ala)
n.2151A>C
n.432-774T>G
c.5387A>C (p.Asp1796Ala)
c.5030A>C (p.Asp1677Ala)
2g.166198865T=CA1304929176SCN1A-AS1,SCN9Ac.5774A= (p.Asp1925=)
c.5618A= (p.Asp1873=)
c.5741A= (p.Asp1914=)
n.2151A=
n.432-774T=
c.5387A= (p.Asp1796=)
c.5030A= (p.Asp1677=)
2g.166198866C>ACA349051534SCN1A-AS1,SCN9Ac.5773G>T (p.Asp1925Tyr)
c.5617G>T (p.Asp1873Tyr)
c.5740G>T (p.Asp1914Tyr)
n.2150G>T
n.432-773C>A
c.5386G>T (p.Asp1796Tyr)
c.5029G>T (p.Asp1677Tyr)
2g.166198866C=CA1304929177SCN1A-AS1,SCN9Ac.5773G= (p.Asp1925=)
c.5617G= (p.Asp1873=)
c.5740G= (p.Asp1914=)
n.2150G=
n.432-773C=
c.5386G= (p.Asp1796=)
c.5029G= (p.Asp1677=)
2g.166198866C>GCA349051535SCN1A-AS1,SCN9Ac.5773G>C (p.Asp1925His)
c.5617G>C (p.Asp1873His)
c.5740G>C (p.Asp1914His)
n.2150G>C
n.432-773C>G
c.5386G>C (p.Asp1796His)
c.5029G>C (p.Asp1677His)
2g.166198866C>TCA1943615SCN1A-AS1,SCN9Ac.5773G>A (p.Asp1925Asn)
c.5617G>A (p.Asp1873Asn)
c.5740G>A (p.Asp1914Asn)
n.2150G>A
n.432-773C>T
c.5386G>A (p.Asp1796Asn)
c.5029G>A (p.Asp1677Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166198867A>CCA349051536SCN1A-AS1,SCN9Ac.5772T>G (p.Asp1924Glu)
c.5616T>G (p.Asp1872Glu)
c.5739T>G (p.Asp1913Glu)
n.2149T>G
n.432-772A>C
c.5385T>G (p.Asp1795Glu)
c.5028T>G (p.Asp1676Glu)
2g.166198867A>GCA429977989SCN1A-AS1,SCN9Ac.5772T>C (p.Asp1924=)
c.5616T>C (p.Asp1872=)
c.5739T>C (p.Asp1913=)
n.2149T>C
n.432-772A>G
c.5385T>C (p.Asp1795=)
c.5028T>C (p.Asp1676=)
2g.166198867A>TCA349051537SCN1A-AS1,SCN9Ac.5772T>A (p.Asp1924Glu)
c.5616T>A (p.Asp1872Glu)
c.5739T>A (p.Asp1913Glu)
n.2149T>A
n.432-772A>T
c.5385T>A (p.Asp1795Glu)
c.5028T>A (p.Asp1676Glu)
2g.166198868T>ACA349051540SCN1A-AS1,SCN9Ac.5771A>T (p.Asp1924Val)
c.5615A>T (p.Asp1872Val)
c.5738A>T (p.Asp1913Val)
n.2148A>T
n.432-771T>A
c.5384A>T (p.Asp1795Val)
c.5027A>T (p.Asp1676Val)
 dbSNP
2g.166198868T>CCA349051538SCN1A-AS1,SCN9Ac.5771A>G (p.Asp1924Gly)
c.5615A>G (p.Asp1872Gly)
c.5738A>G (p.Asp1913Gly)
n.2148A>G
n.432-771T>C
c.5384A>G (p.Asp1795Gly)
c.5027A>G (p.Asp1676Gly)
 ClinVar dbSNP
2g.166198868T>GCA349051539SCN1A-AS1,SCN9Ac.5771A>C (p.Asp1924Ala)
c.5615A>C (p.Asp1872Ala)
c.5738A>C (p.Asp1913Ala)
n.2148A>C
n.432-771T>G
c.5384A>C (p.Asp1795Ala)
c.5027A>C (p.Asp1676Ala)
2g.166198868T=CA1304929178SCN1A-AS1,SCN9Ac.5771A= (p.Asp1924=)
c.5615A= (p.Asp1872=)
c.5738A= (p.Asp1913=)
n.2148A=
n.432-771T=
c.5384A= (p.Asp1795=)
c.5027A= (p.Asp1676=)
2g.166198869C>ACA349051541SCN1A-AS1,SCN9Ac.5770G>T (p.Asp1924Tyr)
c.5614G>T (p.Asp1872Tyr)
c.5737G>T (p.Asp1913Tyr)
n.2147G>T
n.432-770C>A
c.5383G>T (p.Asp1795Tyr)
c.5026G>T (p.Asp1676Tyr)
2g.166198869C>GCA349051543SCN1A-AS1,SCN9Ac.5770G>C (p.Asp1924His)
c.5614G>C (p.Asp1872His)
c.5737G>C (p.Asp1913His)
n.2147G>C
n.432-770C>G
c.5383G>C (p.Asp1795His)
c.5026G>C (p.Asp1676His)
 gnomAD v4
2g.166198869C>TCA349051542SCN1A-AS1,SCN9Ac.5770G>A (p.Asp1924Asn)
c.5614G>A (p.Asp1872Asn)
c.5737G>A (p.Asp1913Asn)
n.2147G>A
n.432-770C>T
c.5383G>A (p.Asp1795Asn)
c.5026G>A (p.Asp1676Asn)
 COSMIC COSMIC
2g.166198870A=CA1304929179SCN1A-AS1,SCN9Ac.5769T= (p.Asp1923=)
c.5613T= (p.Asp1871=)
c.5736T= (p.Asp1912=)
n.2146T=
n.432-769A=
c.5382T= (p.Asp1794=)
c.5025T= (p.Asp1675=)
2g.166198870A>CCA349051544SCN1A-AS1,SCN9Ac.5769T>G (p.Asp1923Glu)
c.5613T>G (p.Asp1871Glu)
c.5736T>G (p.Asp1912Glu)
n.2146T>G
n.432-769A>C
c.5382T>G (p.Asp1794Glu)
c.5025T>G (p.Asp1675Glu)
 gnomAD v4
2g.166198870A>GCA59782883SCN1A-AS1,SCN9Ac.5769T>C (p.Asp1923=)
c.5613T>C (p.Asp1871=)
c.5736T>C (p.Asp1912=)
n.2146T>C
n.432-769A>G
c.5382T>C (p.Asp1794=)
c.5025T>C (p.Asp1675=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198870A>TCA59782910SCN1A-AS1,SCN9Ac.5769T>A (p.Asp1923Glu)
c.5613T>A (p.Asp1871Glu)
c.5736T>A (p.Asp1912Glu)
n.2146T>A
n.432-769A>T
c.5382T>A (p.Asp1794Glu)
c.5025T>A (p.Asp1675Glu)
 dbSNP gnomAD v4
2g.166198871T>ACA349051545SCN1A-AS1,SCN9Ac.5768A>T (p.Asp1923Val)
c.5612A>T (p.Asp1871Val)
c.5735A>T (p.Asp1912Val)
n.2145A>T
n.432-768T>A
c.5381A>T (p.Asp1794Val)
c.5024A>T (p.Asp1675Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166198871T>CCA349051546SCN1A-AS1,SCN9Ac.5768A>G (p.Asp1923Gly)
c.5612A>G (p.Asp1871Gly)
c.5735A>G (p.Asp1912Gly)
n.2145A>G
n.432-768T>C
c.5381A>G (p.Asp1794Gly)
c.5024A>G (p.Asp1675Gly)
2g.166198871T>GCA349051547SCN1A-AS1,SCN9Ac.5768A>C (p.Asp1923Ala)
c.5612A>C (p.Asp1871Ala)
c.5735A>C (p.Asp1912Ala)
n.2145A>C
n.432-768T>G
c.5381A>C (p.Asp1794Ala)
c.5024A>C (p.Asp1675Ala)
 gnomAD v4
2g.166198871T=CA1304929180SCN1A-AS1,SCN9Ac.5768A= (p.Asp1923=)
c.5612A= (p.Asp1871=)
c.5735A= (p.Asp1912=)
n.2145A=
n.432-768T=
c.5381A= (p.Asp1794=)
c.5024A= (p.Asp1675=)

Number of alleles fetched