Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166198770A= | CA1304929127 | SCN1A-AS1,SCN9A | c.5869T= (p.Ser1957=) c.5713T= (p.Ser1905=) c.5836T= (p.Ser1946=) n.2246T= n.432-869A= c.5482T= (p.Ser1828=) c.5125T= (p.Ser1709=) | |
2 | g.166198770A>C | CA349051300 | SCN1A-AS1,SCN9A | c.5869T>G (p.Ser1957Ala) c.5713T>G (p.Ser1905Ala) c.5836T>G (p.Ser1946Ala) n.2246T>G n.432-869A>C c.5482T>G (p.Ser1828Ala) c.5125T>G (p.Ser1709Ala) | |
2 | g.166198770A>G | CA1943604 | SCN1A-AS1,SCN9A | c.5869T>C (p.Ser1957Pro) c.5713T>C (p.Ser1905Pro) c.5836T>C (p.Ser1946Pro) n.2246T>C n.432-869A>G c.5482T>C (p.Ser1828Pro) c.5125T>C (p.Ser1709Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166198770A>T | CA349051303 | SCN1A-AS1,SCN9A | c.5869T>A (p.Ser1957Thr) c.5713T>A (p.Ser1905Thr) c.5836T>A (p.Ser1946Thr) n.2246T>A n.432-869A>T c.5482T>A (p.Ser1828Thr) c.5125T>A (p.Ser1709Thr) | |
2 | g.166198771A= | CA1304929128 | SCN1A-AS1,SCN9A | c.5868T= (p.Pro1956=) c.5712T= (p.Pro1904=) c.5835T= (p.Pro1945=) n.2245T= n.432-868A= c.5481T= (p.Pro1827=) c.5124T= (p.Pro1708=) | |
2 | g.166198771A>C | CA429977586 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198771A>G | CA429977587 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198771A>T | CA429977590 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198772G>A | CA349051313 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198772G>C | CA349051305 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198772G>T | CA349051311 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198773G>A | CA349051316 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198773G>C | CA349051318 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198773G>T | CA349051320 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198774T>A | CA429977593 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198774T>C | CA59782763 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198774T>G | CA429977594 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198774T= | CA1304929129 | SCN1A-AS1,SCN9A | c.5865A= (p.Pro1955=) c.5709A= (p.Pro1903=) c.5832A= (p.Pro1944=) n.2242A= n.432-865T= c.5478A= (p.Pro1826=) c.5121A= (p.Pro1707=) | |
2 | g.166198775G>A | CA349051324 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198775G>C | CA349051326 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198775G>T | CA349051327 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198776G>A | CA349051328 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198776G>C | CA349051329 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198776G>T | CA349051331 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198777A>C | CA429977598 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198777A>G | CA429977600 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198777A>T | CA429977601 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198778G>A | CA349051334 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198778G>C | CA349051333 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198778G>T | CA349051332 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198779A= | CA1304929130 | SCN1A-AS1,SCN9A | c.5860T= (p.Ser1954=) c.5704T= (p.Ser1902=) c.5827T= (p.Ser1943=) n.2237T= n.432-860A= c.5473T= (p.Ser1825=) c.5116T= (p.Ser1706=) | |
2 | g.166198779A>C | CA349051335 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198779A>G | CA349051336 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198779A>T | CA349051337 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198780G>A | CA429977604 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198780G>C | CA429977605 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198780G= | CA1304929131 | SCN1A-AS1,SCN9A | c.5859C= (p.Thr1953=) c.5703C= (p.Thr1901=) c.5826C= (p.Thr1942=) n.2236C= n.432-859G= c.5472C= (p.Thr1824=) c.5115C= (p.Thr1705=) | |
2 | g.166198780G>T | CA429977606 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198781G>A | CA349051338 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198781G>C | CA349051339 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198781G= | CA1304929132 | SCN1A-AS1,SCN9A | c.5858C= (p.Thr1953=) c.5702C= (p.Thr1901=) c.5825C= (p.Thr1942=) n.2235C= n.432-858G= c.5471C= (p.Thr1824=) c.5114C= (p.Thr1705=) | |
2 | g.166198781G>T | CA349051340 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198782T>A | CA349051341 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198782T>C | CA349051342 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198782T>G | CA349051343 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198783G>A | CA429977613 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198783G>C | CA429977614 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198783G>T | CA429977615 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198784G>A | CA349051344 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198784G>C | CA349051345 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198784G= | CA1304929133 | SCN1A-AS1,SCN9A | c.5855C= (p.Thr1952=) c.5699C= (p.Thr1900=) c.5822C= (p.Thr1941=) n.2232C= n.432-855G= c.5468C= (p.Thr1823=) c.5111C= (p.Thr1704=) | |
2 | g.166198784G>T | CA1943605 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198785T>A | CA349051348 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198785T>C | CA349051347 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198785T>G | CA349051346 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198786G>A | CA429977621 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198786G>C | CA429977622 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198786G>T | CA429977624 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198787G>A | CA349051349 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198787G>C | CA349051350 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198787G>T | CA349051351 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198788A>C | CA349051352 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198788A>G | CA349051353 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198788A>T | CA349051354 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198789T>A | CA429977829 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198789T>C | CA429977828 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198789T>G | CA429977827 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198789T= | CA1304929134 | SCN1A-AS1,SCN9A | c.5850A= (p.Ser1950=) c.5694A= (p.Ser1898=) c.5817A= (p.Ser1939=) n.2227A= n.432-850T= c.5463A= (p.Ser1821=) c.5106A= (p.Ser1702=) | |
2 | g.166198790G>A | CA349051355 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198790G>C | CA349051356 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198790G>T | CA349051357 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198791A>C | CA349051358 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198791A>G | CA349051359 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198791A>T | CA349051360 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198792A>C | CA429977835 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198792A>G | CA429977836 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198792A>T | CA429977838 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198793G>A | CA349051363 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198793G>C | CA349051362 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198793G>T | CA349051361 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198794T>A | CA349051364 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198794T>C | CA349051366 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198794T>G | CA349051365 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198795G>A | CA429977845 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198795G>C | CA429977847 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198795G= | CA1304929135 | SCN1A-AS1,SCN9A | c.5844C= (p.Ala1948=) c.5688C= (p.Ala1896=) c.5811C= (p.Ala1937=) n.2221C= n.432-844G= c.5457C= (p.Ala1819=) c.5100C= (p.Ala1700=) | |
2 | g.166198795G>T | CA429977846 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198796G>A | CA349051367 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198796G>C | CA349051368 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198796G= | CA1304929136 | SCN1A-AS1,SCN9A | c.5843C= (p.Ala1948=) c.5687C= (p.Ala1896=) c.5810C= (p.Ala1937=) n.2220C= n.432-843G= c.5456C= (p.Ala1819=) c.5099C= (p.Ala1700=) | |
2 | g.166198796G>T | CA349051369 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198797C>A | CA349051370 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198797C= | CA1304929137 | SCN1A-AS1,SCN9A | c.5842G= (p.Ala1948=) c.5686G= (p.Ala1896=) c.5809G= (p.Ala1937=) n.2219G= n.432-842C= c.5455G= (p.Ala1819=) c.5098G= (p.Ala1700=) | |
2 | g.166198797C>G | CA349051371 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198797C>T | CA349051372 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198798_166198800dup | CA760166393 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198798A= | CA1304929138 | SCN1A-AS1,SCN9A | c.5841T= (p.Asp1947=) c.5685T= (p.Asp1895=) c.5808T= (p.Asp1936=) n.2218T= n.432-841A= c.5454T= (p.Asp1818=) c.5097T= (p.Asp1699=) | |
2 | g.166198798A>C | CA349051373 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198798A>G | CA429977854 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198798A>T | CA349051374 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198799T>A | CA349051375 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198799T>C | CA349051376 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198799T>G | CA349051377 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198800C>A | CA349051380 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198800C= | CA1304929139 | SCN1A-AS1,SCN9A | c.5839G= (p.Asp1947=) c.5683G= (p.Asp1895=) c.5806G= (p.Asp1936=) n.2216G= n.432-839C= c.5452G= (p.Asp1818=) c.5095G= (p.Asp1699=) | |
2 | g.166198800C>G | CA349051379 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198800C>T | CA349051378 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198801T>A | CA429977861 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198801T>C | CA429977859 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198801T>G | CA429977860 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198802G>A | CA349051381 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198802G>C | CA1943606 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198802G= | CA1304929140 | SCN1A-AS1,SCN9A | c.5837C= (p.Thr1946=) c.5681C= (p.Thr1894=) c.5804C= (p.Thr1935=) n.2214C= n.432-837G= c.5450C= (p.Thr1817=) c.5093C= (p.Thr1698=) | |
2 | g.166198802G>T | CA349051382 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198803T>A | CA349051383 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198803T>C | CA349051384 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198803T>G | CA349051385 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198808dup | CA537508630 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198803_166198804insA | CA429977864 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198804T>A | CA349051386 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198804T>C | CA1943607 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198804T>G | CA349051387 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198804T= | CA1304929141 | SCN1A-AS1,SCN9A | c.5835A= (p.Lys1945=) c.5679A= (p.Lys1893=) c.5802A= (p.Lys1934=) n.2212A= n.432-835T= c.5448A= (p.Lys1816=) c.5091A= (p.Lys1697=) | |
2 | g.166198805T>A | CA349051388 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198805T>C | CA349051389 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198805T>G | CA349051390 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198805T= | CA1304929143 | SCN1A-AS1,SCN9A | c.5834A= (p.Lys1945=) c.5678A= (p.Lys1893=) c.5801A= (p.Lys1934=) n.2211A= n.432-834T= c.5447A= (p.Lys1816=) c.5090A= (p.Lys1697=) | |
2 | g.166198806_166198807insCTCGCGATTATATTGAAGTTATGTATT | CA1304929142 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198806T>A | CA349051393 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198806T>C | CA349051392 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198806T>G | CA349051391 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198806T= | CA1304929144 | SCN1A-AS1,SCN9A | c.5833A= (p.Lys1945=) c.5677A= (p.Lys1893=) c.5800A= (p.Lys1934=) n.2210A= n.432-833T= c.5446A= (p.Lys1816=) c.5089A= (p.Lys1697=) | |
2 | g.166198807T>A | CA349051395 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198807T>C | CA429977872 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198807T>G | CA349051394 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198808T>A | CA349051396 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198808T>C | CA349051397 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198808T>G | CA349051398 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198808T= | CA1304929146 | SCN1A-AS1,SCN9A | c.5831A= (p.Glu1944=) c.5675A= (p.Glu1892=) c.5798A= (p.Glu1933=) n.2208A= n.432-831T= c.5444A= (p.Glu1815=) c.5087A= (p.Glu1696=) | |
2 | g.166198808_166198809delinsTC | CA1304929145 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198809_166198810del | CA2701009302 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198809del | CA1943608 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198809C>A | CA349051399 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198809C= | CA1304929147 | SCN1A-AS1,SCN9A | c.5830G= (p.Glu1944=) c.5674G= (p.Glu1892=) c.5797G= (p.Glu1933=) n.2207G= n.432-830C= c.5443G= (p.Glu1815=) c.5086G= (p.Glu1696=) | |
2 | g.166198809C>G | CA349051400 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198809C>T | CA349051401 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198810T>A | CA429977879 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198810T>C | CA429977877 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198810T>G | CA59782802 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198810T= | CA1304929148 | SCN1A-AS1,SCN9A | c.5829A= (p.Pro1943=) c.5673A= (p.Pro1891=) c.5796A= (p.Pro1932=) n.2206A= n.432-829T= c.5442A= (p.Pro1814=) c.5085A= (p.Pro1695=) | |
2 | g.166198811G>A | CA349051402 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198811G>C | CA349051403 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198811G>T | CA349051404 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198812G>A | CA349051406 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198812G>C | CA349051407 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198812G>T | CA349051405 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198814_166198818dup | CA2740095875 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198813A>C | CA349051408 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198813A>G | CA429977883 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198813A>T | CA349051409 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198814C>A | CA349051410 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198814C>G | CA349051411 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198814C>T | CA349051412 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198815T>A | CA349051415 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198815T>C | CA349051413 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198815T>G | CA349051414 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198815T= | CA1304929149 | SCN1A-AS1,SCN9A | c.5824A= (p.Ser1942=) c.5668A= (p.Ser1890=) c.5791A= (p.Ser1931=) n.2201A= n.432-824T= c.5437A= (p.Ser1813=) c.5080A= (p.Ser1694=) | |
2 | g.166198816dup | CA2740095876 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198816T>A | CA429977893 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198816T>C | CA429977890 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198816T>G | CA429977891 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198817G>A | CA349051416 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198817G>C | CA349051417 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198817G>T | CA349051418 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198818A>C | CA349051419 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198818A>G | CA349051420 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198818A>T | CA349051421 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198819G>A | CA59782807 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198819G>C | CA349051423 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198819G= | CA1304929150 | SCN1A-AS1,SCN9A | c.5820C= (p.Asn1940=) c.5664C= (p.Asn1888=) c.5787C= (p.Asn1929=) n.2197C= n.432-820G= c.5433C= (p.Asn1811=) c.5076C= (p.Asn1692=) | |
2 | g.166198819G>T | CA349051422 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198820T>A | CA349051424 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198820T>C | CA349051426 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198820T>G | CA349051425 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198820T= | CA1304929151 | SCN1A-AS1,SCN9A | c.5819A= (p.Asn1940=) c.5663A= (p.Asn1888=) c.5786A= (p.Asn1929=) n.2196A= n.432-819T= c.5432A= (p.Asn1811=) c.5075A= (p.Asn1692=) | |
2 | g.166198821T>A | CA349051427 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198821T>C | CA349051428 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198821T>G | CA349051429 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198822C>A | CA16610173 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198822C= | CA1304929152 | SCN1A-AS1,SCN9A | c.5817G= (p.Glu1939=) c.5661G= (p.Glu1887=) c.5784G= (p.Glu1928=) n.2194G= n.432-817C= c.5430G= (p.Glu1810=) c.5073G= (p.Glu1691=) | |
2 | g.166198822C>G | CA349051430 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198822C>T | CA429977902 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198823T>A | CA349051431 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198823T>C | CA349051432 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198823T>G | CA349051433 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198823_166198829delinsTCATTAA | CA1304929153 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198824C>A | CA349051434 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198824C= | CA1304929154 | SCN1A-AS1,SCN9A | c.5815G= (p.Glu1939=) c.5659G= (p.Glu1887=) c.5782G= (p.Glu1928=) n.2192G= n.432-815C= c.5428G= (p.Glu1810=) c.5071G= (p.Glu1691=) | |
2 | g.166198824C>G | CA349051435 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198824C>T | CA1943610 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198829_166198834del | CA1943609 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198825A>C | CA349051437 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198825A>G | CA429977909 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198825A>T | CA349051436 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198826T>A | CA349051438 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198826T>C | CA349051439 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198826T>G | CA349051440 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198826T= | CA1304929155 | SCN1A-AS1,SCN9A | c.5813A= (p.Asn1938=) c.5657A= (p.Asn1886=) c.5780A= (p.Asn1927=) n.2190A= n.432-813T= c.5426A= (p.Asn1809=) c.5069A= (p.Asn1690=) | |
2 | g.166198827T>A | CA349051441 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198827T>C | CA349051442 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198827T>G | CA349051443 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198828A>C | CA429977913 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198828A>G | CA429977914 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198828A>T | CA429977917 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198829A>C | CA349051444 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198829A>G | CA349051445 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198829A>T | CA349051446 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198830C>A | CA349051447 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198830C>G | CA349051448 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198830C>T | CA349051449 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198830_166198833delinsCATT | CA1304929156 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198831A= | CA1304929157 | SCN1A-AS1,SCN9A | c.5808T= (p.Asn1936=) c.5652T= (p.Asn1884=) c.5775T= (p.Asn1925=) n.2185T= n.432-808A= c.5421T= (p.Asn1807=) c.5064T= (p.Asn1688=) | |
2 | g.166198831A>C | CA349051451 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198831A>G | CA429977923 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198831A>T | CA349051450 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198833_166198835del | CA1943611 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198832T>A | CA349051454 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198832T>C | CA349051452 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198832T>G | CA349051453 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198833T>A | CA349051455 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198833T>C | CA349051456 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198833T>G | CA1943612 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198833T= | CA1304929158 | SCN1A-AS1,SCN9A | c.5806A= (p.Asn1936=) c.5650A= (p.Asn1884=) c.5773A= (p.Asn1925=) n.2183A= n.432-806T= c.5419A= (p.Asn1807=) c.5062A= (p.Asn1688=) | |
2 | g.166198834A>C | CA349051457 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198834A>G | CA429977927 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198834A>T | CA349051458 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198835_166198838dup | CA2661764171 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198835T>A | CA349051459 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198835T>C | CA349051460 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198835T>G | CA349051461 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198836C>A | CA349051462 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198836C= | CA1304929159 | SCN1A-AS1,SCN9A | c.5803G= (p.Asp1935=) c.5647G= (p.Asp1883=) c.5770G= (p.Asp1924=) n.2180G= n.432-803C= c.5416G= (p.Asp1806=) c.5059G= (p.Asp1687=) | |
2 | g.166198836C>G | CA349051463 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198836C>T | CA349051464 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198837A>C | CA349051466 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198837A>G | CA429977933 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198837A>T | CA349051465 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198838A>C | CA349051467 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198838A>G | CA349051468 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198838A>T | CA349051469 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198839A>C | CA349051470 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198839A>G | CA349051471 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198839A>T | CA349051472 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198840A= | CA1304929160 | SCN1A-AS1,SCN9A | c.5799T= (p.Ala1933=) c.5643T= (p.Ala1881=) c.5766T= (p.Ala1922=) n.2176T= n.432-799A= c.5412T= (p.Ala1804=) c.5055T= (p.Ala1685=) | |
2 | g.166198840A>C | CA429977936 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198840A>G | CA429977938 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198840A>T | CA429977940 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198841G>A | CA349051473 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198841G>C | CA349051474 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198841G= | CA1304929161 | SCN1A-AS1,SCN9A | c.5798C= (p.Ala1933=) c.5642C= (p.Ala1881=) c.5765C= (p.Ala1922=) n.2175C= n.432-798G= c.5411C= (p.Ala1804=) c.5054C= (p.Ala1685=) | |
2 | g.166198841G>T | CA349051475 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198842C>A | CA349051476 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198842C>G | CA349051477 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198842C>T | CA349051478 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198842_166198849dup | CA1943613 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198843C>A | CA349051481 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198843C= | CA1304929162 | SCN1A-AS1,SCN9A | c.5796G= (p.Met1932=) c.5640G= (p.Met1880=) c.5763G= (p.Met1921=) n.2173G= n.432-796C= c.5409G= (p.Met1803=) c.5052G= (p.Met1684=) | |
2 | g.166198843C>G | CA349051480 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198843C>T | CA349051479 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198844A= | CA1304929163 | SCN1A-AS1,SCN9A | c.5795T= (p.Met1932=) c.5639T= (p.Met1880=) c.5762T= (p.Met1921=) n.2172T= n.432-795A= c.5408T= (p.Met1803=) c.5051T= (p.Met1684=) | |
2 | g.166198844A>C | CA349051482 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198844A>G | CA59782861 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198844A>T | CA349051483 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198846_166198847del | CA2577144740 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198845T>A | CA349051484 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198845T>C | CA349051485 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198845T>G | CA349051486 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198845T= | CA1304929164 | SCN1A-AS1,SCN9A | c.5794A= (p.Met1932=) c.5638A= (p.Met1880=) c.5761A= (p.Met1921=) n.2171A= n.432-794T= c.5407A= (p.Met1803=) c.5050A= (p.Met1684=) | |
2 | g.166198845dup | CA2661764172 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198846_166198849dup | CA2661764173 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198846A>C | CA349051487 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198846A>G | CA429977945 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198846A>T | CA349051488 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198847T>A | CA349051489 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198847T>C | CA349051490 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198847T>G | CA349051491 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198847T= | CA1304929165 | SCN1A-AS1,SCN9A | c.5792A= (p.Asp1931=) c.5636A= (p.Asp1879=) c.5759A= (p.Asp1920=) n.2169A= n.432-792T= c.5405A= (p.Asp1802=) c.5048A= (p.Asp1683=) | |
2 | g.166198848C>A | CA349051492 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198848C= | CA1304929167 | SCN1A-AS1,SCN9A | c.5791G= (p.Asp1931=) c.5635G= (p.Asp1879=) c.5758G= (p.Asp1920=) n.2168G= n.432-791C= c.5404G= (p.Asp1802=) c.5047G= (p.Asp1683=) | |
2 | g.166198848C>G | CA1943614 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198848C>T | CA349051493 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198848_166198849delinsCT | CA1304929166 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198849T>A | CA349051494 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198849T>C | CA429977949 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198849T>G | CA349051495 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198854dup | CA2606309664 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198854del | CA1304929168 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198850T>A | CA349051496 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198850T>C | CA349051498 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198850T>G | CA349051497 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198851T>A | CA349051499 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198851T>C | CA349051500 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198851T>G | CA349051501 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198851T= | CA1304929169 | SCN1A-AS1,SCN9A | c.5788A= (p.Lys1930=) c.5632A= (p.Lys1878=) c.5755A= (p.Lys1919=) n.2165A= n.432-788T= c.5401A= (p.Lys1801=) c.5044A= (p.Lys1682=) | |
2 | g.166198852T>A | CA349051502 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198852T>C | CA429977960 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198852T>G | CA349051503 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198853T>A | CA349051504 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198853T>C | CA349051505 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198853T>G | CA349051506 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198854T>A | CA349051507 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198854T>C | CA349051508 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198854T>G | CA349051509 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198854T= | CA1304929170 | SCN1A-AS1,SCN9A | c.5785A= (p.Lys1929=) c.5629A= (p.Lys1877=) c.5752A= (p.Lys1918=) n.2162A= n.432-785T= c.5398A= (p.Lys1800=) c.5041A= (p.Lys1681=) | |
2 | g.166198855A= | CA1304929171 | SCN1A-AS1,SCN9A | c.5784T= (p.Asn1928=) c.5628T= (p.Asn1876=) c.5751T= (p.Asn1917=) n.2161T= n.432-784A= c.5397T= (p.Asn1799=) c.5040T= (p.Asn1680=) | |
2 | g.166198855A>C | CA349051511 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198855A>G | CA429977965 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198855A>T | CA349051510 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198856T>A | CA349051512 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198856T>C | CA349051513 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198856T>G | CA349051514 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198856T= | CA1304929172 | SCN1A-AS1,SCN9A | c.5783A= (p.Asn1928=) c.5627A= (p.Asn1876=) c.5750A= (p.Asn1917=) n.2160A= n.432-783T= c.5396A= (p.Asn1799=) c.5039A= (p.Asn1680=) | |
2 | g.166198857T>A | CA349051515 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198857T>C | CA349051516 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198857T>G | CA349051517 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198858G>A | CA429977971 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198858G>C | CA429977973 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198858G>T | CA429977975 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198859A>C | CA349051520 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198859A>G | CA349051518 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198859A>T | CA349051519 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198860G>A | CA202084 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198860G>C | CA349051521 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198860G= | CA1304929173 | SCN1A-AS1,SCN9A | c.5779C= (p.Leu1927=) c.5623C= (p.Leu1875=) c.5746C= (p.Leu1916=) n.2156C= n.432-779G= c.5392C= (p.Leu1798=) c.5035C= (p.Leu1679=) | |
2 | g.166198860G>T | CA349051522 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198861T>A | CA349051523 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198861T>C | CA429977978 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198861T>G | CA349051524 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198862A>C | CA349051527 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198862A>G | CA349051525 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198862A>T | CA349051526 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198863A= | CA1304929174 | SCN1A-AS1,SCN9A | c.5776T= (p.Leu1926=) c.5620T= (p.Leu1874=) c.5743T= (p.Leu1915=) n.2153T= n.432-776A= c.5389T= (p.Leu1797=) c.5032T= (p.Leu1678=) | |
2 | g.166198863A>C | CA349051528 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198863A>G | CA429977983 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198863A>T | CA59782871 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198864A= | CA1304929175 | SCN1A-AS1,SCN9A | c.5775T= (p.Asp1925=) c.5619T= (p.Asp1873=) c.5742T= (p.Asp1914=) n.2152T= n.432-775A= c.5388T= (p.Asp1796=) c.5031T= (p.Asp1677=) | |
2 | g.166198864A>C | CA349051529 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198864A>G | CA59782876 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198864A>T | CA349051530 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198865T>A | CA349051531 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198865T>C | CA349051532 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198865T>G | CA349051533 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198865T= | CA1304929176 | SCN1A-AS1,SCN9A | c.5774A= (p.Asp1925=) c.5618A= (p.Asp1873=) c.5741A= (p.Asp1914=) n.2151A= n.432-774T= c.5387A= (p.Asp1796=) c.5030A= (p.Asp1677=) | |
2 | g.166198866C>A | CA349051534 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198866C= | CA1304929177 | SCN1A-AS1,SCN9A | c.5773G= (p.Asp1925=) c.5617G= (p.Asp1873=) c.5740G= (p.Asp1914=) n.2150G= n.432-773C= c.5386G= (p.Asp1796=) c.5029G= (p.Asp1677=) | |
2 | g.166198866C>G | CA349051535 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198866C>T | CA1943615 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198867A>C | CA349051536 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198867A>G | CA429977989 | SCN1A-AS1,SCN9A | c.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=) | |
2 | g.166198867A>T | CA349051537 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198868T>A | CA349051540 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198868T>C | CA349051538 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198868T>G | CA349051539 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198868T= | CA1304929178 | SCN1A-AS1,SCN9A | c.5771A= (p.Asp1924=) c.5615A= (p.Asp1872=) c.5738A= (p.Asp1913=) n.2148A= n.432-771T= c.5384A= (p.Asp1795=) c.5027A= (p.Asp1676=) | |
2 | g.166198869C>A | CA349051541 | SCN1A-AS1,SCN9A | c.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) | |
2 | g.166198869C>G | CA349051543 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198869C>T | CA349051542 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198870A= | CA1304929179 | SCN1A-AS1,SCN9A | c.5769T= (p.Asp1923=) c.5613T= (p.Asp1871=) c.5736T= (p.Asp1912=) n.2146T= n.432-769A= c.5382T= (p.Asp1794=) c.5025T= (p.Asp1675=) | |
2 | g.166198870A>C | CA349051544 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198870A>G | CA59782883 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166198870A>T | CA59782910 | SCN1A-AS1,SCN9A | c.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 |