Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51807295_51807296del | CA689783793 | SCN8A | c.5809_5810del (p.Ser1937HisfsTer11) c.5686_5687del (p.Ser1896HisfsTer11) c.5842_5843del (p.Ser1948HisfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807295A= | CA2036195022 | SCN8A | c.5809A= (p.Ser1937=) c.5686A= (p.Ser1896=) c.5842A= (p.Ser1948=) | |
12 | g.51807295A>C | CA318307 | SCN8A | c.5809A>C (p.Ser1937Arg) c.5686A>C (p.Ser1896Arg) c.5842A>C (p.Ser1948Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807295A>G | CA384889580 | SCN8A | c.5809A>G (p.Ser1937Gly) c.5686A>G (p.Ser1896Gly) c.5842A>G (p.Ser1948Gly) | |
12 | g.51807295A>T | CA384889588 | SCN8A | c.5809A>T (p.Ser1937Cys) c.5686A>T (p.Ser1896Cys) c.5842A>T (p.Ser1948Cys) | |
12 | g.51807296G>A | CA384889594 | SCN8A | c.5810G>A (p.Ser1937Asn) c.5687G>A (p.Ser1896Asn) c.5843G>A (p.Ser1948Asn) | |
12 | g.51807296G>C | CA384889602 | SCN8A | c.5810G>C (p.Ser1937Thr) c.5687G>C (p.Ser1896Thr) c.5843G>C (p.Ser1948Thr) | |
12 | g.51807296G>T | CA384889591 | SCN8A | c.5810G>T (p.Ser1937Ile) c.5687G>T (p.Ser1896Ile) c.5843G>T (p.Ser1948Ile) | COSMIC COSMIC |
12 | g.51807297C>A | CA384889605 | SCN8A | c.5811C>A (p.Ser1937Arg) c.5688C>A (p.Ser1896Arg) c.5844C>A (p.Ser1948Arg) | |
12 | g.51807297C>G | CA384889608 | SCN8A | c.5811C>G (p.Ser1937Arg) c.5688C>G (p.Ser1896Arg) c.5844C>G (p.Ser1948Arg) | |
12 | g.51807297C>T | CA480062352 | SCN8A | c.5811C>T (p.Ser1937=) c.5688C>T (p.Ser1896=) c.5844C>T (p.Ser1948=) | |
12 | g.51807298A>C | CA384889623 | SCN8A | c.5812A>C (p.Thr1938Pro) c.5689A>C (p.Thr1897Pro) c.5845A>C (p.Thr1949Pro) | gnomAD v4 |
12 | g.51807298A>G | CA384889627 | SCN8A | c.5812A>G (p.Thr1938Ala) c.5689A>G (p.Thr1897Ala) c.5845A>G (p.Thr1949Ala) | |
12 | g.51807298A>T | CA384889630 | SCN8A | c.5812A>T (p.Thr1938Ser) c.5689A>T (p.Thr1897Ser) c.5845A>T (p.Thr1949Ser) | |
12 | g.51807299C>A | CA6571957 | SCN8A | c.5813C>A (p.Thr1938Asn) c.5690C>A (p.Thr1897Asn) c.5846C>A (p.Thr1949Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807299C= | CA2036195026 | SCN8A | c.5813C= (p.Thr1938=) c.5690C= (p.Thr1897=) c.5846C= (p.Thr1949=) | |
12 | g.51807299C>G | CA384889634 | SCN8A | c.5813C>G (p.Thr1938Ser) c.5690C>G (p.Thr1897Ser) c.5846C>G (p.Thr1949Ser) | |
12 | g.51807299C>T | CA384889633 | SCN8A | c.5813C>T (p.Thr1938Ile) c.5690C>T (p.Thr1897Ile) c.5846C>T (p.Thr1949Ile) | |
12 | g.51807300C>A | CA480062355 | SCN8A | c.5814C>A (p.Thr1938=) c.5691C>A (p.Thr1897=) c.5847C>A (p.Thr1949=) | |
12 | g.51807300C>G | CA480062357 | SCN8A | c.5814C>G (p.Thr1938=) c.5691C>G (p.Thr1897=) c.5847C>G (p.Thr1949=) | |
12 | g.51807300C>T | CA480062356 | SCN8A | c.5814C>T (p.Thr1938=) c.5691C>T (p.Thr1897=) c.5847C>T (p.Thr1949=) | |
12 | g.51807301C>A | CA384889635 | SCN8A | c.5815C>A (p.Pro1939Thr) c.5692C>A (p.Pro1898Thr) c.5848C>A (p.Pro1950Thr) | COSMIC COSMIC |
12 | g.51807301C>G | CA384889637 | SCN8A | c.5815C>G (p.Pro1939Ala) c.5692C>G (p.Pro1898Ala) c.5848C>G (p.Pro1950Ala) | |
12 | g.51807301C>T | CA384889639 | SCN8A | c.5815C>T (p.Pro1939Ser) c.5692C>T (p.Pro1898Ser) c.5848C>T (p.Pro1950Ser) | |
12 | g.51807302C>A | CA384889644 | SCN8A | c.5816C>A (p.Pro1939Gln) c.5693C>A (p.Pro1898Gln) c.5849C>A (p.Pro1950Gln) | |
12 | g.51807302C= | CA2036195030 | SCN8A | c.5816C= (p.Pro1939=) c.5693C= (p.Pro1898=) c.5849C= (p.Pro1950=) | |
12 | g.51807302C>G | CA384889647 | SCN8A | c.5816C>G (p.Pro1939Arg) c.5693C>G (p.Pro1898Arg) c.5849C>G (p.Pro1950Arg) | |
12 | g.51807302C>T | CA384889653 | SCN8A | c.5816C>T (p.Pro1939Leu) c.5693C>T (p.Pro1898Leu) c.5849C>T (p.Pro1950Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807303_51807305dup | CA2618842382 | SCN8A | c.5817_5819dup (p.Ser1940_Thr1941insSer) c.5694_5696dup (p.Ser1899_Thr1900insSer) c.5850_5852dup (p.Ser1951_Thr1952insSer) | gnomAD v4 |
12 | g.51807303A= | CA2036195032 | SCN8A | c.5817A= (p.Pro1939=) c.5694A= (p.Pro1898=) c.5850A= (p.Pro1950=) | |
12 | g.51807303A>C | CA480062358 | SCN8A | c.5817A>C (p.Pro1939=) c.5694A>C (p.Pro1898=) c.5850A>C (p.Pro1950=) | |
12 | g.51807303A>G | CA480062359 | SCN8A | c.5817A>G (p.Pro1939=) c.5694A>G (p.Pro1898=) c.5850A>G (p.Pro1950=) | dbSNP gnomAD v4 |
12 | g.51807303A>T | CA480062360 | SCN8A | c.5817A>T (p.Pro1939=) c.5694A>T (p.Pro1898=) c.5850A>T (p.Pro1950=) | |
12 | g.51807304T>A | CA384889657 | SCN8A | c.5818T>A (p.Ser1940Thr) c.5695T>A (p.Ser1899Thr) c.5851T>A (p.Ser1951Thr) | |
12 | g.51807304T>C | CA384889661 | SCN8A | c.5818T>C (p.Ser1940Pro) c.5695T>C (p.Ser1899Pro) c.5851T>C (p.Ser1951Pro) | |
12 | g.51807304T>G | CA384889659 | SCN8A | c.5818T>G (p.Ser1940Ala) c.5695T>G (p.Ser1899Ala) c.5851T>G (p.Ser1951Ala) | |
12 | g.51807305C>A | CA384889664 | SCN8A | c.5819C>A (p.Ser1940Tyr) c.5696C>A (p.Ser1899Tyr) c.5852C>A (p.Ser1951Tyr) | gnomAD v4 |
12 | g.51807305C>G | CA384889666 | SCN8A | c.5819C>G (p.Ser1940Cys) c.5696C>G (p.Ser1899Cys) c.5852C>G (p.Ser1951Cys) | |
12 | g.51807305C>T | CA384889667 | SCN8A | c.5819C>T (p.Ser1940Phe) c.5696C>T (p.Ser1899Phe) c.5852C>T (p.Ser1951Phe) | |
12 | g.51807306T>A | CA480062365 | SCN8A | c.5820T>A (p.Ser1940=) c.5697T>A (p.Ser1899=) c.5853T>A (p.Ser1951=) | |
12 | g.51807306T>C | CA480062366 | SCN8A | c.5820T>C (p.Ser1940=) c.5697T>C (p.Ser1899=) c.5853T>C (p.Ser1951=) | |
12 | g.51807306T>G | CA480062367 | SCN8A | c.5820T>G (p.Ser1940=) c.5697T>G (p.Ser1899=) c.5853T>G (p.Ser1951=) | |
12 | g.51807307A>C | CA384889676 | SCN8A | c.5821A>C (p.Thr1941Pro) c.5698A>C (p.Thr1900Pro) c.5854A>C (p.Thr1952Pro) | |
12 | g.51807307A>G | CA384889678 | SCN8A | c.5821A>G (p.Thr1941Ala) c.5698A>G (p.Thr1900Ala) c.5854A>G (p.Thr1952Ala) | |
12 | g.51807307A>T | CA384889681 | SCN8A | c.5821A>T (p.Thr1941Ser) c.5698A>T (p.Thr1900Ser) c.5854A>T (p.Thr1952Ser) | |
12 | g.51807308C>A | CA384889683 | SCN8A | c.5822C>A (p.Thr1941Lys) c.5699C>A (p.Thr1900Lys) c.5855C>A (p.Thr1952Lys) | |
12 | g.51807308C>G | CA384889686 | SCN8A | c.5822C>G (p.Thr1941Arg) c.5699C>G (p.Thr1900Arg) c.5855C>G (p.Thr1952Arg) | |
12 | g.51807308C>T | CA384889687 | SCN8A | c.5822C>T (p.Thr1941Ile) c.5699C>T (p.Thr1900Ile) c.5855C>T (p.Thr1952Ile) | |
12 | g.51807309del | CA2573148738 | SCN8A | c.5823del (p.Ala1942ProfsTer9) c.5700del (p.Ala1901ProfsTer9) c.5856del (p.Ala1953ProfsTer9) | ClinVar dbSNP |
12 | g.51807309A>C | CA480062368 | SCN8A | c.5823A>C (p.Thr1941=) c.5700A>C (p.Thr1900=) c.5856A>C (p.Thr1952=) | ClinVar |
12 | g.51807309A>G | CA480062369 | SCN8A | c.5823A>G (p.Thr1941=) c.5700A>G (p.Thr1900=) c.5856A>G (p.Thr1952=) | |
12 | g.51807309A>T | CA480062370 | SCN8A | c.5823A>T (p.Thr1941=) c.5700A>T (p.Thr1900=) c.5856A>T (p.Thr1952=) | |
12 | g.51807310G>A | CA384889688 | SCN8A | c.5824G>A (p.Ala1942Thr) c.5701G>A (p.Ala1901Thr) c.5857G>A (p.Ala1953Thr) | |
12 | g.51807310G>C | CA384889689 | SCN8A | c.5824G>C (p.Ala1942Pro) c.5701G>C (p.Ala1901Pro) c.5857G>C (p.Ala1953Pro) | |
12 | g.51807310G>T | CA384889691 | SCN8A | c.5824G>T (p.Ala1942Ser) c.5701G>T (p.Ala1901Ser) c.5857G>T (p.Ala1953Ser) | |
12 | g.51807311C>A | CA384889695 | SCN8A | c.5825C>A (p.Ala1942Asp) c.5702C>A (p.Ala1901Asp) c.5858C>A (p.Ala1953Asp) | |
12 | g.51807311C= | CA2036195036 | SCN8A | c.5825C= (p.Ala1942=) c.5702C= (p.Ala1901=) c.5858C= (p.Ala1953=) | |
12 | g.51807311C>G | CA384889700 | SCN8A | c.5825C>G (p.Ala1942Gly) c.5702C>G (p.Ala1901Gly) c.5858C>G (p.Ala1953Gly) | COSMIC COSMIC |
12 | g.51807311C>T | CA236327893 | SCN8A | c.5825C>T (p.Ala1942Val) c.5702C>T (p.Ala1901Val) c.5858C>T (p.Ala1953Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807312C>A | CA480062375 | SCN8A | c.5826C>A (p.Ala1942=) c.5703C>A (p.Ala1901=) c.5859C>A (p.Ala1953=) | |
12 | g.51807312C= | CA2036195039 | SCN8A | c.5826C= (p.Ala1942=) c.5703C= (p.Ala1901=) c.5859C= (p.Ala1953=) | |
12 | g.51807312C>G | CA6571958 | SCN8A | c.5826C>G (p.Ala1942=) c.5703C>G (p.Ala1901=) c.5859C>G (p.Ala1953=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807312C>T | CA480062377 | SCN8A | c.5826C>T (p.Ala1942=) c.5703C>T (p.Ala1901=) c.5859C>T (p.Ala1953=) | gnomAD v4 |
12 | g.51807313T>A | CA384889704 | SCN8A | c.5827T>A (p.Ser1943Thr) c.5704T>A (p.Ser1902Thr) c.5860T>A (p.Ser1954Thr) | |
12 | g.51807313T>C | CA384889724 | SCN8A | c.5827T>C (p.Ser1943Pro) c.5704T>C (p.Ser1902Pro) c.5860T>C (p.Ser1954Pro) | |
12 | g.51807313T>G | CA384889726 | SCN8A | c.5827T>G (p.Ser1943Ala) c.5704T>G (p.Ser1902Ala) c.5860T>G (p.Ser1954Ala) | |
12 | g.51807314C>A | CA384889734 | SCN8A | c.5828C>A (p.Ser1943Tyr) c.5705C>A (p.Ser1902Tyr) c.5861C>A (p.Ser1954Tyr) | |
12 | g.51807314C>G | CA384889736 | SCN8A | c.5828C>G (p.Ser1943Cys) c.5705C>G (p.Ser1902Cys) c.5861C>G (p.Ser1954Cys) | |
12 | g.51807314C>T | CA384889746 | SCN8A | c.5828C>T (p.Ser1943Phe) c.5705C>T (p.Ser1902Phe) c.5861C>T (p.Ser1954Phe) | |
12 | g.51807314_51807315delinsTT | CA645591096 | SCN8A | c.5828_5829delinsTT (p.Ser1943Phe) c.5705_5706delinsTT (p.Ser1902Phe) c.5861_5862delinsTT (p.Ser1954Phe) | COSMIC COSMIC |
12 | g.51807315C>A | CA480062384 | SCN8A | c.5829C>A (p.Ser1943=) c.5706C>A (p.Ser1902=) c.5862C>A (p.Ser1954=) | |
12 | g.51807315C>G | CA480062385 | SCN8A | c.5829C>G (p.Ser1943=) c.5706C>G (p.Ser1902=) c.5862C>G (p.Ser1954=) | |
12 | g.51807315C>T | CA480062386 | SCN8A | c.5829C>T (p.Ser1943=) c.5706C>T (p.Ser1902=) c.5862C>T (p.Ser1954=) | COSMIC COSMIC |
12 | g.51807316C>A | CA384889750 | SCN8A | c.5830C>A (p.Leu1944Ile) c.5707C>A (p.Leu1903Ile) c.5863C>A (p.Leu1955Ile) | |
12 | g.51807316C>G | CA384889751 | SCN8A | c.5830C>G (p.Leu1944Val) c.5707C>G (p.Leu1903Val) c.5863C>G (p.Leu1955Val) | |
12 | g.51807316C>T | CA384889752 | SCN8A | c.5830C>T (p.Leu1944Phe) c.5707C>T (p.Leu1903Phe) c.5863C>T (p.Leu1955Phe) | gnomAD v4 |
12 | g.51807317T>A | CA384889753 | SCN8A | c.5831T>A (p.Leu1944His) c.5708T>A (p.Leu1903His) c.5864T>A (p.Leu1955His) | |
12 | g.51807317T>C | CA384889754 | SCN8A | c.5831T>C (p.Leu1944Pro) c.5708T>C (p.Leu1903Pro) c.5864T>C (p.Leu1955Pro) | |
12 | g.51807317T>G | CA384889755 | SCN8A | c.5831T>G (p.Leu1944Arg) c.5708T>G (p.Leu1903Arg) c.5864T>G (p.Leu1955Arg) | |
12 | g.51807318C>A | CA480062391 | SCN8A | c.5832C>A (p.Leu1944=) c.5709C>A (p.Leu1903=) c.5865C>A (p.Leu1955=) | gnomAD v4 |
12 | g.51807318C= | CA2036195041 | SCN8A | c.5832C= (p.Leu1944=) c.5709C= (p.Leu1903=) c.5865C= (p.Leu1955=) | |
12 | g.51807318C>G | CA480062393 | SCN8A | c.5832C>G (p.Leu1944=) c.5709C>G (p.Leu1903=) c.5865C>G (p.Leu1955=) | gnomAD v4 |
12 | g.51807318C>T | CA480062394 | SCN8A | c.5832C>T (p.Leu1944=) c.5709C>T (p.Leu1903=) c.5865C>T (p.Leu1955=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807319C>A | CA384889765 | SCN8A | c.5833C>A (p.Pro1945Thr) c.5710C>A (p.Pro1904Thr) c.5866C>A (p.Pro1956Thr) | |
12 | g.51807319C>G | CA384889761 | SCN8A | c.5833C>G (p.Pro1945Ala) c.5710C>G (p.Pro1904Ala) c.5866C>G (p.Pro1956Ala) | |
12 | g.51807319C>T | CA384889757 | SCN8A | c.5833C>T (p.Pro1945Ser) c.5710C>T (p.Pro1904Ser) c.5866C>T (p.Pro1956Ser) | |
12 | g.51807320C>A | CA384889780 | SCN8A | c.5834C>A (p.Pro1945Gln) c.5711C>A (p.Pro1904Gln) c.5867C>A (p.Pro1956Gln) | |
12 | g.51807320C= | CA2036195044 | SCN8A | c.5834C= (p.Pro1945=) c.5711C= (p.Pro1904=) c.5867C= (p.Pro1956=) | |
12 | g.51807320C>G | CA384889782 | SCN8A | c.5834C>G (p.Pro1945Arg) c.5711C>G (p.Pro1904Arg) c.5867C>G (p.Pro1956Arg) | gnomAD v4 |
12 | g.51807320C>T | CA6571959 | SCN8A | c.5834C>T (p.Pro1945Leu) c.5711C>T (p.Pro1904Leu) c.5867C>T (p.Pro1956Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807321G>A | CA6571960 | SCN8A | c.5835G>A (p.Pro1945=) c.5712G>A (p.Pro1904=) c.5868G>A (p.Pro1956=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807321G>C | CA480062397 | SCN8A | c.5835G>C (p.Pro1945=) c.5712G>C (p.Pro1904=) c.5868G>C (p.Pro1956=) | |
12 | g.51807321G= | CA2036195047 | SCN8A | c.5835G= (p.Pro1945=) c.5712G= (p.Pro1904=) c.5868G= (p.Pro1956=) | |
12 | g.51807321G>T | CA480062396 | SCN8A | c.5835G>T (p.Pro1945=) c.5712G>T (p.Pro1904=) c.5868G>T (p.Pro1956=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807322T>A | CA6571961 | SCN8A | c.5836T>A (p.Ser1946Thr) c.5713T>A (p.Ser1905Thr) c.5869T>A (p.Ser1957Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807322T>C | CA384889787 | SCN8A | c.5836T>C (p.Ser1946Pro) c.5713T>C (p.Ser1905Pro) c.5869T>C (p.Ser1957Pro) | |
12 | g.51807322T>G | CA384889788 | SCN8A | c.5836T>G (p.Ser1946Ala) c.5713T>G (p.Ser1905Ala) c.5869T>G (p.Ser1957Ala) | |
12 | g.51807322T= | CA2036195050 | SCN8A | c.5836T= (p.Ser1946=) c.5713T= (p.Ser1905=) c.5869T= (p.Ser1957=) | |
12 | g.51807323C>A | CA384889792 | SCN8A | c.5837C>A (p.Ser1946Tyr) c.5714C>A (p.Ser1905Tyr) c.5870C>A (p.Ser1957Tyr) | |
12 | g.51807323C>G | CA384889794 | SCN8A | c.5837C>G (p.Ser1946Cys) c.5714C>G (p.Ser1905Cys) c.5870C>G (p.Ser1957Cys) | |
12 | g.51807323C>T | CA384889797 | SCN8A | c.5837C>T (p.Ser1946Phe) c.5714C>T (p.Ser1905Phe) c.5870C>T (p.Ser1957Phe) | |
12 | g.51807324C>A | CA480062403 | SCN8A | c.5838C>A (p.Ser1946=) c.5715C>A (p.Ser1905=) c.5871C>A (p.Ser1957=) | |
12 | g.51807324C= | CA2036195052 | SCN8A | c.5838C= (p.Ser1946=) c.5715C= (p.Ser1905=) c.5871C= (p.Ser1957=) | |
12 | g.51807324C>G | CA480062402 | SCN8A | c.5838C>G (p.Ser1946=) c.5715C>G (p.Ser1905=) c.5871C>G (p.Ser1957=) | |
12 | g.51807324C>T | CA6571962 | SCN8A | c.5838C>T (p.Ser1946=) c.5715C>T (p.Ser1905=) c.5871C>T (p.Ser1957=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807325T>A | CA384889811 | SCN8A | c.5839T>A (p.Tyr1947Asn) c.5716T>A (p.Tyr1906Asn) c.5872T>A (p.Tyr1958Asn) | |
12 | g.51807325T>C | CA384889814 | SCN8A | c.5839T>C (p.Tyr1947His) c.5716T>C (p.Tyr1906His) c.5872T>C (p.Tyr1958His) | |
12 | g.51807325T>G | CA384889822 | SCN8A | c.5839T>G (p.Tyr1947Asp) c.5716T>G (p.Tyr1906Asp) c.5872T>G (p.Tyr1958Asp) | gnomAD v4 |
12 | g.51807326A>C | CA384889837 | SCN8A | c.5840A>C (p.Tyr1947Ser) c.5717A>C (p.Tyr1906Ser) c.5873A>C (p.Tyr1958Ser) | |
12 | g.51807326A>G | CA384889830 | SCN8A | c.5840A>G (p.Tyr1947Cys) c.5717A>G (p.Tyr1906Cys) c.5873A>G (p.Tyr1958Cys) | ClinVar |
12 | g.51807326A>T | CA384889826 | SCN8A | c.5840A>T (p.Tyr1947Phe) c.5717A>T (p.Tyr1906Phe) c.5873A>T (p.Tyr1958Phe) | |
12 | g.51807327T>A | CA384889840 | SCN8A | c.5841T>A (p.Tyr1947Ter) c.5718T>A (p.Tyr1906Ter) c.5874T>A (p.Tyr1958Ter) | |
12 | g.51807327T>C | CA480062410 | SCN8A | c.5841T>C (p.Tyr1947=) c.5718T>C (p.Tyr1906=) c.5874T>C (p.Tyr1958=) | ClinVar dbSNP gnomAD v4 |
12 | g.51807327T>G | CA384889841 | SCN8A | c.5841T>G (p.Tyr1947Ter) c.5718T>G (p.Tyr1906Ter) c.5874T>G (p.Tyr1958Ter) | |
12 | g.51807327T= | CA2036195062 | SCN8A | c.5841T= (p.Tyr1947=) c.5718T= (p.Tyr1906=) c.5874T= (p.Tyr1958=) | |
12 | g.51807328G>A | CA384889842 | SCN8A | c.5842G>A (p.Asp1948Asn) c.5719G>A (p.Asp1907Asn) c.5875G>A (p.Asp1959Asn) | |
12 | g.51807328G>C | CA384889843 | SCN8A | c.5842G>C (p.Asp1948His) c.5719G>C (p.Asp1907His) c.5875G>C (p.Asp1959His) | COSMIC COSMIC |
12 | g.51807328G>T | CA384889846 | SCN8A | c.5842G>T (p.Asp1948Tyr) c.5719G>T (p.Asp1907Tyr) c.5875G>T (p.Asp1959Tyr) | |
12 | g.51807329A>C | CA384889851 | SCN8A | c.5843A>C (p.Asp1948Ala) c.5720A>C (p.Asp1907Ala) c.5876A>C (p.Asp1959Ala) | gnomAD v4 |
12 | g.51807329A>G | CA384889856 | SCN8A | c.5843A>G (p.Asp1948Gly) c.5720A>G (p.Asp1907Gly) c.5876A>G (p.Asp1959Gly) | |
12 | g.51807329A>T | CA384889858 | SCN8A | c.5843A>T (p.Asp1948Val) c.5720A>T (p.Asp1907Val) c.5876A>T (p.Asp1959Val) | |
12 | g.51807330C>A | CA384889861 | SCN8A | c.5844C>A (p.Asp1948Glu) c.5721C>A (p.Asp1907Glu) c.5877C>A (p.Asp1959Glu) | |
12 | g.51807330C>G | CA384889864 | SCN8A | c.5844C>G (p.Asp1948Glu) c.5721C>G (p.Asp1907Glu) c.5877C>G (p.Asp1959Glu) | |
12 | g.51807330C>T | CA480062413 | SCN8A | c.5844C>T (p.Asp1948=) c.5721C>T (p.Asp1907=) c.5877C>T (p.Asp1959=) | gnomAD v4 |
12 | g.51807331A>C | CA384889869 | SCN8A | c.5845A>C (p.Ser1949Arg) c.5722A>C (p.Ser1908Arg) c.5878A>C (p.Ser1960Arg) | |
12 | g.51807331A>G | CA384889872 | SCN8A | c.5845A>G (p.Ser1949Gly) c.5722A>G (p.Ser1908Gly) c.5878A>G (p.Ser1960Gly) | |
12 | g.51807331A>T | CA384889876 | SCN8A | c.5845A>T (p.Ser1949Cys) c.5722A>T (p.Ser1908Cys) c.5878A>T (p.Ser1960Cys) | |
12 | g.51807332G>A | CA384889887 | SCN8A | c.5846G>A (p.Ser1949Asn) c.5723G>A (p.Ser1908Asn) c.5879G>A (p.Ser1960Asn) | dbSNP gnomAD v2 |
12 | g.51807332G>C | CA384889877 | SCN8A | c.5846G>C (p.Ser1949Thr) c.5723G>C (p.Ser1908Thr) c.5879G>C (p.Ser1960Thr) | |
12 | g.51807332G= | CA2036195065 | SCN8A | c.5846G= (p.Ser1949=) c.5723G= (p.Ser1908=) c.5879G= (p.Ser1960=) | |
12 | g.51807332G>T | CA384889878 | SCN8A | c.5846G>T (p.Ser1949Ile) c.5723G>T (p.Ser1908Ile) c.5879G>T (p.Ser1960Ile) | |
12 | g.51807333T>A | CA384889892 | SCN8A | c.5847T>A (p.Ser1949Arg) c.5724T>A (p.Ser1908Arg) c.5880T>A (p.Ser1960Arg) | |
12 | g.51807333T>C | CA6571963 | SCN8A | c.5847T>C (p.Ser1949=) c.5724T>C (p.Ser1908=) c.5880T>C (p.Ser1960=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807333T>G | CA384889895 | SCN8A | c.5847T>G (p.Ser1949Arg) c.5724T>G (p.Ser1908Arg) c.5880T>G (p.Ser1960Arg) | |
12 | g.51807333T= | CA2036195071 | SCN8A | c.5847T= (p.Ser1949=) c.5724T= (p.Ser1908=) c.5880T= (p.Ser1960=) | |
12 | g.51807334G>A | CA384889896 | SCN8A | c.5848G>A (p.Val1950Ile) c.5725G>A (p.Val1909Ile) c.5881G>A (p.Val1961Ile) | ClinVar gnomAD v4 |
12 | g.51807334G>C | CA384889897 | SCN8A | c.5848G>C (p.Val1950Leu) c.5725G>C (p.Val1909Leu) c.5881G>C (p.Val1961Leu) | |
12 | g.51807334G>T | CA384889899 | SCN8A | c.5848G>T (p.Val1950Leu) c.5725G>T (p.Val1909Leu) c.5881G>T (p.Val1961Leu) | |
12 | g.51807335T>A | CA384889903 | SCN8A | c.5849T>A (p.Val1950Glu) c.5726T>A (p.Val1909Glu) c.5882T>A (p.Val1961Glu) | |
12 | g.51807335T>C | CA384889907 | SCN8A | c.5849T>C (p.Val1950Ala) c.5726T>C (p.Val1909Ala) c.5882T>C (p.Val1961Ala) | |
12 | g.51807335T>G | CA384889910 | SCN8A | c.5849T>G (p.Val1950Gly) c.5726T>G (p.Val1909Gly) c.5882T>G (p.Val1961Gly) | |
12 | g.51807336A= | CA2036195078 | SCN8A | c.5850A= (p.Val1950=) c.5727A= (p.Val1909=) c.5883A= (p.Val1961=) | |
12 | g.51807336A>C | CA480062427 | SCN8A | c.5850A>C (p.Val1950=) c.5727A>C (p.Val1909=) c.5883A>C (p.Val1961=) | |
12 | g.51807336A>G | CA480062430 | SCN8A | c.5850A>G (p.Val1950=) c.5727A>G (p.Val1909=) c.5883A>G (p.Val1961=) | dbSNP gnomAD v2 |
12 | g.51807336A>T | CA480062429 | SCN8A | c.5850A>T (p.Val1950=) c.5727A>T (p.Val1909=) c.5883A>T (p.Val1961=) | |
12 | g.51807337A>C | CA384889924 | SCN8A | c.5851A>C (p.Thr1951Pro) c.5728A>C (p.Thr1910Pro) c.5884A>C (p.Thr1962Pro) | |
12 | g.51807337A>G | CA384889925 | SCN8A | c.5851A>G (p.Thr1951Ala) c.5728A>G (p.Thr1910Ala) c.5884A>G (p.Thr1962Ala) | |
12 | g.51807337A>T | CA384889926 | SCN8A | c.5851A>T (p.Thr1951Ser) c.5728A>T (p.Thr1910Ser) c.5884A>T (p.Thr1962Ser) | |
12 | g.51807338C>A | CA384889929 | SCN8A | c.5852C>A (p.Thr1951Asn) c.5729C>A (p.Thr1910Asn) c.5885C>A (p.Thr1962Asn) | |
12 | g.51807338C>G | CA384889934 | SCN8A | c.5852C>G (p.Thr1951Ser) c.5729C>G (p.Thr1910Ser) c.5885C>G (p.Thr1962Ser) | ClinVar dbSNP |
12 | g.51807338C>T | CA384889931 | SCN8A | c.5852C>T (p.Thr1951Ile) c.5729C>T (p.Thr1910Ile) c.5885C>T (p.Thr1962Ile) | |
12 | g.51807339T>A | CA480062439 | SCN8A | c.5853T>A (p.Thr1951=) c.5730T>A (p.Thr1910=) c.5886T>A (p.Thr1962=) | |
12 | g.51807339T>C | CA480062441 | SCN8A | c.5853T>C (p.Thr1951=) c.5730T>C (p.Thr1910=) c.5886T>C (p.Thr1962=) | |
12 | g.51807339T>G | CA480062443 | SCN8A | c.5853T>G (p.Thr1951=) c.5730T>G (p.Thr1910=) c.5886T>G (p.Thr1962=) | |
12 | g.51807340A= | CA2036195082 | SCN8A | c.5854A= (p.Lys1952=) c.5731A= (p.Lys1911=) c.5887A= (p.Lys1963=) | |
12 | g.51807340A>C | CA384889938 | SCN8A | c.5854A>C (p.Lys1952Gln) c.5731A>C (p.Lys1911Gln) c.5887A>C (p.Lys1963Gln) | |
12 | g.51807340A>G | CA384889946 | SCN8A | c.5854A>G (p.Lys1952Glu) c.5731A>G (p.Lys1911Glu) c.5887A>G (p.Lys1963Glu) | |
12 | g.51807340A>T | CA384889942 | SCN8A | c.5854A>T (p.Lys1952Ter) c.5731A>T (p.Lys1911Ter) c.5887A>T (p.Lys1963Ter) | dbSNP |
12 | g.51807341A>C | CA384889963 | SCN8A | c.5855A>C (p.Lys1952Thr) c.5732A>C (p.Lys1911Thr) c.5888A>C (p.Lys1963Thr) | |
12 | g.51807341A>G | CA384889965 | SCN8A | c.5855A>G (p.Lys1952Arg) c.5732A>G (p.Lys1911Arg) c.5888A>G (p.Lys1963Arg) | |
12 | g.51807341A>T | CA384889966 | SCN8A | c.5855A>T (p.Lys1952Ile) c.5732A>T (p.Lys1911Ile) c.5888A>T (p.Lys1963Ile) | |
12 | g.51807342A>C | CA384889969 | SCN8A | c.5856A>C (p.Lys1952Asn) c.5733A>C (p.Lys1911Asn) c.5889A>C (p.Lys1963Asn) | |
12 | g.51807342A>G | CA480062450 | SCN8A | c.5856A>G (p.Lys1952=) c.5733A>G (p.Lys1911=) c.5889A>G (p.Lys1963=) | gnomAD v4 |
12 | g.51807342A>T | CA384889971 | SCN8A | c.5856A>T (p.Lys1952Asn) c.5733A>T (p.Lys1911Asn) c.5889A>T (p.Lys1963Asn) | |
12 | g.51807343C>A | CA384889974 | SCN8A | c.5857C>A (p.Pro1953Thr) c.5734C>A (p.Pro1912Thr) c.5890C>A (p.Pro1964Thr) | |
12 | g.51807343C>G | CA384889975 | SCN8A | c.5857C>G (p.Pro1953Ala) c.5734C>G (p.Pro1912Ala) c.5890C>G (p.Pro1964Ala) | |
12 | g.51807343C>T | CA384889976 | SCN8A | c.5857C>T (p.Pro1953Ser) c.5734C>T (p.Pro1912Ser) c.5890C>T (p.Pro1964Ser) | |
12 | g.51807344C>A | CA384889977 | SCN8A | c.5858C>A (p.Pro1953His) c.5735C>A (p.Pro1912His) c.5891C>A (p.Pro1964His) | |
12 | g.51807344C>G | CA384889979 | SCN8A | c.5858C>G (p.Pro1953Arg) c.5735C>G (p.Pro1912Arg) c.5891C>G (p.Pro1964Arg) | |
12 | g.51807344C>T | CA384889982 | SCN8A | c.5858C>T (p.Pro1953Leu) c.5735C>T (p.Pro1912Leu) c.5891C>T (p.Pro1964Leu) | gnomAD v4 COSMIC COSMIC |
12 | g.51807345T>A | CA480062459 | SCN8A | c.5859T>A (p.Pro1953=) c.5736T>A (p.Pro1912=) c.5892T>A (p.Pro1964=) | |
12 | g.51807345T>C | CA480062461 | SCN8A | c.5859T>C (p.Pro1953=) c.5736T>C (p.Pro1912=) c.5892T>C (p.Pro1964=) | |
12 | g.51807345T>G | CA480062456 | SCN8A | c.5859T>G (p.Pro1953=) c.5736T>G (p.Pro1912=) c.5892T>G (p.Pro1964=) | gnomAD v4 |
12 | g.51807346G>A | CA384889994 | SCN8A | c.5860G>A (p.Glu1954Lys) c.5737G>A (p.Glu1913Lys) c.5893G>A (p.Glu1965Lys) | |
12 | g.51807346G>C | CA384889985 | SCN8A | c.5860G>C (p.Glu1954Gln) c.5737G>C (p.Glu1913Gln) c.5893G>C (p.Glu1965Gln) | |
12 | g.51807346G= | CA2036195086 | SCN8A | c.5860G= (p.Glu1954=) c.5737G= (p.Glu1913=) c.5893G= (p.Glu1965=) | |
12 | g.51807346G>T | CA384889991 | SCN8A | c.5860G>T (p.Glu1954Ter) c.5737G>T (p.Glu1913Ter) c.5893G>T (p.Glu1965Ter) | dbSNP |
12 | g.51807346_51807347delinsGA | CA2036195093 | SCN8A | c.5860_5861delinsGA (p.Glu1954=) c.5737_5738delinsGA (p.Glu1913=) c.5893_5894delinsGA (p.Glu1965=) | |
12 | g.51807347A>C | CA384890002 | SCN8A | c.5861A>C (p.Glu1954Ala) c.5738A>C (p.Glu1913Ala) c.5894A>C (p.Glu1965Ala) | |
12 | g.51807347A>G | CA384890005 | SCN8A | c.5861A>G (p.Glu1954Gly) c.5738A>G (p.Glu1913Gly) c.5894A>G (p.Glu1965Gly) | |
12 | g.51807347A>T | CA384890013 | SCN8A | c.5861A>T (p.Glu1954Val) c.5738A>T (p.Glu1913Val) c.5894A>T (p.Glu1965Val) | |
12 | g.51807350del | CA689783879 | SCN8A | c.5864del (p.Lys1955ArgfsTer?) c.5741del (p.Lys1914ArgfsTer?) c.5897del (p.Lys1966ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807348A>C | CA384890016 | SCN8A | c.5862A>C (p.Glu1954Asp) c.5739A>C (p.Glu1913Asp) c.5895A>C (p.Glu1965Asp) | |
12 | g.51807348A>G | CA480062469 | SCN8A | c.5862A>G (p.Glu1954=) c.5739A>G (p.Glu1913=) c.5895A>G (p.Glu1965=) | |
12 | g.51807348A>T | CA384890019 | SCN8A | c.5862A>T (p.Glu1954Asp) c.5739A>T (p.Glu1913Asp) c.5895A>T (p.Glu1965Asp) | |
12 | g.51807349A= | CA2036195099 | SCN8A | c.5863A= (p.Lys1955=) c.5740A= (p.Lys1914=) c.5896A= (p.Lys1966=) | |
12 | g.51807349A>C | CA384890023 | SCN8A | c.5863A>C (p.Lys1955Gln) c.5740A>C (p.Lys1914Gln) c.5896A>C (p.Lys1966Gln) | |
12 | g.51807349A>G | CA384890025 | SCN8A | c.5863A>G (p.Lys1955Glu) c.5740A>G (p.Lys1914Glu) c.5896A>G (p.Lys1966Glu) | gnomAD v4 |
12 | g.51807349A>T | CA384890027 | SCN8A | c.5863A>T (p.Lys1955Ter) c.5740A>T (p.Lys1914Ter) c.5896A>T (p.Lys1966Ter) | dbSNP |
12 | g.51807350A= | CA2036195100 | SCN8A | c.5864A= (p.Lys1955=) c.5741A= (p.Lys1914=) c.5897A= (p.Lys1966=) | |
12 | g.51807350A>C | CA384890029 | SCN8A | c.5864A>C (p.Lys1955Thr) c.5741A>C (p.Lys1914Thr) c.5897A>C (p.Lys1966Thr) | |
12 | g.51807350A>G | CA384890031 | SCN8A | c.5864A>G (p.Lys1955Arg) c.5741A>G (p.Lys1914Arg) c.5897A>G (p.Lys1966Arg) | |
12 | g.51807350A>T | CA384890035 | SCN8A | c.5864A>T (p.Lys1955Met) c.5741A>T (p.Lys1914Met) c.5897A>T (p.Lys1966Met) | dbSNP |
12 | g.51807351G>A | CA480062478 | SCN8A | c.5865G>A (p.Lys1955=) c.5742G>A (p.Lys1914=) c.5898G>A (p.Lys1966=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807351G>C | CA384890040 | SCN8A | c.5865G>C (p.Lys1955Asn) c.5742G>C (p.Lys1914Asn) c.5898G>C (p.Lys1966Asn) | |
12 | g.51807351G= | CA2036195103 | SCN8A | c.5865G= (p.Lys1955=) c.5742G= (p.Lys1914=) c.5898G= (p.Lys1966=) | |
12 | g.51807351G>T | CA384890038 | SCN8A | c.5865G>T (p.Lys1955Asn) c.5742G>T (p.Lys1914Asn) c.5898G>T (p.Lys1966Asn) | COSMIC |
12 | g.51807352G>A | CA384890044 | SCN8A | c.5866G>A (p.Glu1956Lys) c.5743G>A (p.Glu1915Lys) c.5899G>A (p.Glu1967Lys) | gnomAD v4 |
12 | g.51807352G>C | CA384890052 | SCN8A | c.5866G>C (p.Glu1956Gln) c.5743G>C (p.Glu1915Gln) c.5899G>C (p.Glu1967Gln) | |
12 | g.51807352G= | CA2036195105 | SCN8A | c.5866G= (p.Glu1956=) c.5743G= (p.Glu1915=) c.5899G= (p.Glu1967=) | |
12 | g.51807352G>T | CA384890055 | SCN8A | c.5866G>T (p.Glu1956Ter) c.5743G>T (p.Glu1915Ter) c.5899G>T (p.Glu1967Ter) | dbSNP |
12 | g.51807353A>C | CA384890068 | SCN8A | c.5867A>C (p.Glu1956Ala) c.5744A>C (p.Glu1915Ala) c.5900A>C (p.Glu1967Ala) | |
12 | g.51807353A>G | CA384890069 | SCN8A | c.5867A>G (p.Glu1956Gly) c.5744A>G (p.Glu1915Gly) c.5900A>G (p.Glu1967Gly) | |
12 | g.51807353A>T | CA384890072 | SCN8A | c.5867A>T (p.Glu1956Val) c.5744A>T (p.Glu1915Val) c.5900A>T (p.Glu1967Val) | |
12 | g.51807354G>A | CA480062485 | SCN8A | c.5868G>A (p.Glu1956=) c.5745G>A (p.Glu1915=) c.5901G>A (p.Glu1967=) | |
12 | g.51807354G>C | CA384890077 | SCN8A | c.5868G>C (p.Glu1956Asp) c.5745G>C (p.Glu1915Asp) c.5901G>C (p.Glu1967Asp) | |
12 | g.51807354G>T | CA384890081 | SCN8A | c.5868G>T (p.Glu1956Asp) c.5745G>T (p.Glu1915Asp) c.5901G>T (p.Glu1967Asp) | |
12 | g.51807355A= | CA2036195109 | SCN8A | c.5869A= (p.Lys1957=) c.5746A= (p.Lys1916=) c.5902A= (p.Lys1968=) | |
12 | g.51807355A>C | CA384890086 | SCN8A | c.5869A>C (p.Lys1957Gln) c.5746A>C (p.Lys1916Gln) c.5902A>C (p.Lys1968Gln) | dbSNP gnomAD v4 |
12 | g.51807355A>G | CA384890089 | SCN8A | c.5869A>G (p.Lys1957Glu) c.5746A>G (p.Lys1916Glu) c.5902A>G (p.Lys1968Glu) | |
12 | g.51807355A>T | CA384890092 | SCN8A | c.5869A>T (p.Lys1957Ter) c.5746A>T (p.Lys1916Ter) c.5902A>T (p.Lys1968Ter) | dbSNP |
12 | g.51807355_51807356insC | CA236327948 | SCN8A | c.5869_5870insC (p.Lys1957ThrfsTer?) c.5746_5747insC (p.Lys1916ThrfsTer?) c.5902_5903insC (p.Lys1968ThrfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807356A>C | CA384890108 | SCN8A | c.5870A>C (p.Lys1957Thr) c.5747A>C (p.Lys1916Thr) c.5903A>C (p.Lys1968Thr) | |
12 | g.51807356A>G | CA384890103 | SCN8A | c.5870A>G (p.Lys1957Arg) c.5747A>G (p.Lys1916Arg) c.5903A>G (p.Lys1968Arg) | |
12 | g.51807356A>T | CA384890101 | SCN8A | c.5870A>T (p.Lys1957Ile) c.5747A>T (p.Lys1916Ile) c.5903A>T (p.Lys1968Ile) | |
12 | g.51807357A>C | CA384890135 | SCN8A | c.5871A>C (p.Lys1957Asn) c.5748A>C (p.Lys1916Asn) c.5904A>C (p.Lys1968Asn) | |
12 | g.51807357A>G | CA480062490 | SCN8A | c.5871A>G (p.Lys1957=) c.5748A>G (p.Lys1916=) c.5904A>G (p.Lys1968=) | |
12 | g.51807357A>T | CA384890138 | SCN8A | c.5871A>T (p.Lys1957Asn) c.5748A>T (p.Lys1916Asn) c.5904A>T (p.Lys1968Asn) | |
12 | g.51807358C>A | CA384890141 | SCN8A | c.5872C>A (p.Gln1958Lys) c.5749C>A (p.Gln1917Lys) c.5905C>A (p.Gln1969Lys) | |
12 | g.51807358C= | CA2036195125 | SCN8A | c.5872C= (p.Gln1958=) c.5749C= (p.Gln1917=) c.5905C= (p.Gln1969=) | |
12 | g.51807358C>G | CA384890143 | SCN8A | c.5872C>G (p.Gln1958Glu) c.5749C>G (p.Gln1917Glu) c.5905C>G (p.Gln1969Glu) | |
12 | g.51807358C>T | CA384890145 | SCN8A | c.5872C>T (p.Gln1958Ter) c.5749C>T (p.Gln1917Ter) c.5905C>T (p.Gln1969Ter) | ClinVar dbSNP gnomAD v4 |
12 | g.51807362_51807364del | CA2618842391 | SCN8A | c.5876_5878del (p.Gln1959del) c.5753_5755del (p.Gln1918del) c.5909_5911del (p.Gln1970del) | gnomAD v4 |
12 | g.51807359A>C | CA384890154 | SCN8A | c.5873A>C (p.Gln1958Pro) c.5750A>C (p.Gln1917Pro) c.5906A>C (p.Gln1969Pro) | |
12 | g.51807359A>G | CA384890149 | SCN8A | c.5873A>G (p.Gln1958Arg) c.5750A>G (p.Gln1917Arg) c.5906A>G (p.Gln1969Arg) | |
12 | g.51807359A>T | CA384890152 | SCN8A | c.5873A>T (p.Gln1958Leu) c.5750A>T (p.Gln1917Leu) c.5906A>T (p.Gln1969Leu) | |
12 | g.51807360G>A | CA480062493 | SCN8A | c.5874G>A (p.Gln1958=) c.5751G>A (p.Gln1917=) c.5907G>A (p.Gln1969=) | dbSNP |
12 | g.51807360G>C | CA384890159 | SCN8A | c.5874G>C (p.Gln1958His) c.5751G>C (p.Gln1917His) c.5907G>C (p.Gln1969His) | |
12 | g.51807360G>T | CA384890162 | SCN8A | c.5874G>T (p.Gln1958His) c.5751G>T (p.Gln1917His) c.5907G>T (p.Gln1969His) | |
12 | g.51807361C>A | CA384890164 | SCN8A | c.5875C>A (p.Gln1959Lys) c.5752C>A (p.Gln1918Lys) c.5908C>A (p.Gln1970Lys) | |
12 | g.51807361C>G | CA384890166 | SCN8A | c.5875C>G (p.Gln1959Glu) c.5752C>G (p.Gln1918Glu) c.5908C>G (p.Gln1970Glu) | |
12 | g.51807361C>T | CA384890168 | SCN8A | c.5875C>T (p.Gln1959Ter) c.5752C>T (p.Gln1918Ter) c.5908C>T (p.Gln1970Ter) | |
12 | g.51807362A>C | CA384890183 | SCN8A | c.5876A>C (p.Gln1959Pro) c.5753A>C (p.Gln1918Pro) c.5909A>C (p.Gln1970Pro) | |
12 | g.51807362A>G | CA384890181 | SCN8A | c.5876A>G (p.Gln1959Arg) c.5753A>G (p.Gln1918Arg) c.5909A>G (p.Gln1970Arg) | |
12 | g.51807362A>T | CA384890172 | SCN8A | c.5876A>T (p.Gln1959Leu) c.5753A>T (p.Gln1918Leu) c.5909A>T (p.Gln1970Leu) | |
12 | g.51807363G>A | CA480062501 | SCN8A | c.5877G>A (p.Gln1959=) c.5754G>A (p.Gln1918=) c.5910G>A (p.Gln1970=) | |
12 | g.51807363G>C | CA384890205 | SCN8A | c.5877G>C (p.Gln1959His) c.5754G>C (p.Gln1918His) c.5910G>C (p.Gln1970His) | |
12 | g.51807363G>T | CA384890208 | SCN8A | c.5877G>T (p.Gln1959His) c.5754G>T (p.Gln1918His) c.5910G>T (p.Gln1970His) | |
12 | g.51807364C>A | CA480062505 | SCN8A | c.5878C>A (p.Arg1960=) c.5755C>A (p.Arg1919=) c.5911C>A (p.Arg1971=) | gnomAD v4 |
12 | g.51807364C= | CA2036195129 | SCN8A | c.5878C= (p.Arg1960=) c.5755C= (p.Arg1919=) c.5911C= (p.Arg1971=) | |
12 | g.51807364C>G | CA384890214 | SCN8A | c.5878C>G (p.Arg1960Gly) c.5755C>G (p.Arg1919Gly) c.5911C>G (p.Arg1971Gly) | |
12 | g.51807364C>T | CA236327953 | SCN8A | c.5878C>T (p.Arg1960Trp) c.5755C>T (p.Arg1919Trp) c.5911C>T (p.Arg1971Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807365G>A | CA318309 | SCN8A | c.5879G>A (p.Arg1960Gln) c.5756G>A (p.Arg1919Gln) c.5912G>A (p.Arg1971Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807365G>C | CA384890218 | SCN8A | c.5879G>C (p.Arg1960Pro) c.5756G>C (p.Arg1919Pro) c.5912G>C (p.Arg1971Pro) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51807365G= | CA2036195134 | SCN8A | c.5879G= (p.Arg1960=) c.5756G= (p.Arg1919=) c.5912G= (p.Arg1971=) | |
12 | g.51807365G>T | CA6571964 | SCN8A | c.5879G>T (p.Arg1960Leu) c.5756G>T (p.Arg1919Leu) c.5912G>T (p.Arg1971Leu) | ClinVar dbSNP ExAC gnomAD v4 |
12 | g.51807366G>A | CA480062508 | SCN8A | c.5880G>A (p.Arg1960=) c.5757G>A (p.Arg1919=) c.5913G>A (p.Arg1971=) | |
12 | g.51807366G>C | CA480062509 | SCN8A | c.5880G>C (p.Arg1960=) c.5757G>C (p.Arg1919=) c.5913G>C (p.Arg1971=) | |
12 | g.51807366G>T | CA480062510 | SCN8A | c.5880G>T (p.Arg1960=) c.5757G>T (p.Arg1919=) c.5913G>T (p.Arg1971=) | |
12 | g.51807367G>A | CA384890219 | SCN8A | c.5881G>A (p.Ala1961Thr) c.5758G>A (p.Ala1920Thr) c.5914G>A (p.Ala1972Thr) | |
12 | g.51807367G>C | CA384890223 | SCN8A | c.5881G>C (p.Ala1961Pro) c.5758G>C (p.Ala1920Pro) c.5914G>C (p.Ala1972Pro) | |
12 | g.51807367G= | CA2036195146 | SCN8A | c.5881G= (p.Ala1961=) c.5758G= (p.Ala1920=) c.5914G= (p.Ala1972=) | |
12 | g.51807367G>T | CA384890225 | SCN8A | c.5881G>T (p.Ala1961Ser) c.5758G>T (p.Ala1920Ser) c.5914G>T (p.Ala1972Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807368C>A | CA384890228 | SCN8A | c.5882C>A (p.Ala1961Glu) c.5759C>A (p.Ala1920Glu) c.5915C>A (p.Ala1972Glu) | |
12 | g.51807368C>G | CA384890238 | SCN8A | c.5882C>G (p.Ala1961Gly) c.5759C>G (p.Ala1920Gly) c.5915C>G (p.Ala1972Gly) | |
12 | g.51807368C>T | CA384890244 | SCN8A | c.5882C>T (p.Ala1961Val) c.5759C>T (p.Ala1920Val) c.5915C>T (p.Ala1972Val) | gnomAD v4 COSMIC COSMIC |
12 | g.51807369A= | CA2036195157 | SCN8A | c.5883A= (p.Ala1961=) c.5760A= (p.Ala1920=) c.5916A= (p.Ala1972=) | |
12 | g.51807369A>C | CA480062512 | SCN8A | c.5883A>C (p.Ala1961=) c.5760A>C (p.Ala1920=) c.5916A>C (p.Ala1972=) | |
12 | g.51807369A>G | CA6571965 | SCN8A | c.5883A>G (p.Ala1961=) c.5760A>G (p.Ala1920=) c.5916A>G (p.Ala1972=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807369A>T | CA480062518 | SCN8A | c.5883A>T (p.Ala1961=) c.5760A>T (p.Ala1920=) c.5916A>T (p.Ala1972=) | |
12 | g.51807369_51807373delinsAGAGG | CA2036195155 | SCN8A | c.5883_5887delinsAGAGG (p.Ala1961=) c.5760_5764delinsAGAGG (p.Ala1920=) c.5916_5920delinsAGAGG (p.Ala1972=) | |
12 | g.51807370G>A | CA384890248 | SCN8A | c.5884G>A (p.Glu1962Lys) c.5761G>A (p.Glu1921Lys) c.5917G>A (p.Glu1973Lys) | |
12 | g.51807370G>C | CA384890251 | SCN8A | c.5884G>C (p.Glu1962Gln) c.5761G>C (p.Glu1921Gln) c.5917G>C (p.Glu1973Gln) | |
12 | g.51807370G= | CA2036195162 | SCN8A | c.5884G= (p.Glu1962=) c.5761G= (p.Glu1921=) c.5917G= (p.Glu1973=) | |
12 | g.51807370G>T | CA384890253 | SCN8A | c.5884G>T (p.Glu1962Ter) c.5761G>T (p.Glu1921Ter) c.5917G>T (p.Glu1973Ter) | dbSNP |
12 | g.51807370_51807373del | CA2036195164 | SCN8A | c.5884_5887del (p.Glu1962LysfsTer30) c.5761_5764del (p.Glu1921LysfsTer30) c.5761_5764del (p.Glu1921LysfsTer?) c.5917_5920del (p.Glu1973LysfsTer?) c.5884_5887del (p.Glu1962LysfsTer?) | dbSNP |
12 | g.51807370_51807374delinsGAGGA | CA2036195163 | SCN8A | c.5884_5888delinsGAGGA (p.Glu1962=) c.5761_5765delinsGAGGA (p.Glu1921=) c.5917_5921delinsGAGGA (p.Glu1973=) | |
12 | g.51807371A= | CA2036195179 | SCN8A | c.5885A= (p.Glu1962=) c.5762A= (p.Glu1921=) c.5918A= (p.Glu1973=) | |
12 | g.51807371A>C | CA384890254 | SCN8A | c.5885A>C (p.Glu1962Ala) c.5762A>C (p.Glu1921Ala) c.5918A>C (p.Glu1973Ala) | |
12 | g.51807371A>G | CA384890257 | SCN8A | c.5885A>G (p.Glu1962Gly) c.5762A>G (p.Glu1921Gly) c.5918A>G (p.Glu1973Gly) | gnomAD v4 |
12 | g.51807371A>T | CA384890255 | SCN8A | c.5885A>T (p.Glu1962Val) c.5762A>T (p.Glu1921Val) c.5918A>T (p.Glu1973Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807371_51807372delinsAG | CA2036195176 | SCN8A | c.5885_5886delinsAG (p.Glu1962=) c.5762_5763delinsAG (p.Glu1921=) c.5918_5919delinsAG (p.Glu1973=) | |
12 | g.51807377_51807380del | CA658797918 | SCN8A | c.5891_5894del (p.Gly1964GlufsTer28) c.5768_5771del (p.Gly1923GlufsTer28) c.5768_5771del (p.Gly1923GlufsTer?) c.5924_5927del (p.Gly1975GlufsTer?) c.5891_5894del (p.Gly1964GlufsTer?) | ClinVar dbSNP |
12 | g.51807372G>A | CA480062525 | SCN8A | c.5886G>A (p.Glu1962=) c.5763G>A (p.Glu1921=) c.5919G>A (p.Glu1973=) | |
12 | g.51807372G>C | CA384890259 | SCN8A | c.5886G>C (p.Glu1962Asp) c.5763G>C (p.Glu1921Asp) c.5919G>C (p.Glu1973Asp) | |
12 | g.51807372G>T | CA384890261 | SCN8A | c.5886G>T (p.Glu1962Asp) c.5763G>T (p.Glu1921Asp) c.5919G>T (p.Glu1973Asp) | |
12 | g.51807373del | CA689783942 | SCN8A | c.5887del (p.Glu1963LysfsTer30) c.5764del (p.Glu1922LysfsTer30) c.5764del (p.Glu1922LysfsTer?) c.5920del (p.Glu1974LysfsTer?) c.5887del (p.Glu1963LysfsTer?) | dbSNP |
12 | g.51807373G>A | CA16042906 | SCN8A | c.5887G>A (p.Glu1963Lys) c.5764G>A (p.Glu1922Lys) c.5920G>A (p.Glu1974Lys) | ClinVar dbSNP COSMIC COSMIC |
12 | g.51807373G>C | CA384890266 | SCN8A | c.5887G>C (p.Glu1963Gln) c.5764G>C (p.Glu1922Gln) c.5920G>C (p.Glu1974Gln) | |
12 | g.51807373G= | CA2036195189 | SCN8A | c.5887G= (p.Glu1963=) c.5764G= (p.Glu1922=) c.5920G= (p.Glu1974=) | |
12 | g.51807373G>T | CA384890269 | SCN8A | c.5887G>T (p.Glu1963Ter) c.5764G>T (p.Glu1922Ter) c.5920G>T (p.Glu1974Ter) | dbSNP |
12 | g.51807374A>C | CA384890276 | SCN8A | c.5888A>C (p.Glu1963Ala) c.5765A>C (p.Glu1922Ala) c.5921A>C (p.Glu1974Ala) | |
12 | g.51807374A>G | CA384890278 | SCN8A | c.5888A>G (p.Glu1963Gly) c.5765A>G (p.Glu1922Gly) c.5921A>G (p.Glu1974Gly) | |
12 | g.51807374A>T | CA384890283 | SCN8A | c.5888A>T (p.Glu1963Val) c.5765A>T (p.Glu1922Val) c.5921A>T (p.Glu1974Val) | |
12 | g.51807375A= | CA2036195199 | SCN8A | c.5889A= (p.Glu1963=) c.5766A= (p.Glu1922=) c.5922A= (p.Glu1974=) | |
12 | g.51807375A>C | CA384890287 | SCN8A | c.5889A>C (p.Glu1963Asp) c.5766A>C (p.Glu1922Asp) c.5922A>C (p.Glu1974Asp) | |
12 | g.51807375A>G | CA480062530 | SCN8A | c.5889A>G (p.Glu1963=) c.5766A>G (p.Glu1922=) c.5922A>G (p.Glu1974=) | dbSNP |
12 | g.51807375A>T | CA384890289 | SCN8A | c.5889A>T (p.Glu1963Asp) c.5766A>T (p.Glu1922Asp) c.5922A>T (p.Glu1974Asp) | |
12 | g.51807376G>A | CA6571966 | SCN8A | c.5890G>A (p.Gly1964Arg) c.5767G>A (p.Gly1923Arg) c.5923G>A (p.Gly1975Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807376G>C | CA384890300 | SCN8A | c.5890G>C (p.Gly1964Arg) c.5767G>C (p.Gly1923Arg) c.5923G>C (p.Gly1975Arg) | |
12 | g.51807376G= | CA2036195203 | SCN8A | c.5890G= (p.Gly1964=) c.5767G= (p.Gly1923=) c.5923G= (p.Gly1975=) | |
12 | g.51807376G>T | CA384890296 | SCN8A | c.5890G>T (p.Gly1964Ter) c.5767G>T (p.Gly1923Ter) c.5923G>T (p.Gly1975Ter) | dbSNP |
12 | g.51807376_51807379delinsGGAA | CA2036195206 | SCN8A | c.5890_5893delinsGGAA (p.Gly1964=) c.5767_5770delinsGGAA (p.Gly1923=) c.5923_5926delinsGGAA (p.Gly1975=) | |
12 | g.51807377G>A | CA384890305 | SCN8A | c.5891G>A (p.Gly1964Glu) c.5768G>A (p.Gly1923Glu) c.5924G>A (p.Gly1975Glu) | gnomAD v4 |
12 | g.51807377G>C | CA384890308 | SCN8A | c.5891G>C (p.Gly1964Ala) c.5768G>C (p.Gly1923Ala) c.5924G>C (p.Gly1975Ala) | |
12 | g.51807377G>T | CA384890315 | SCN8A | c.5891G>T (p.Gly1964Val) c.5768G>T (p.Gly1923Val) c.5924G>T (p.Gly1975Val) | |
12 | g.51807381_51807383del | CA605238632 | SCN8A | c.5895_5897del (p.Arg1966del) c.5772_5774del (p.Arg1925del) c.5928_5930del (p.Arg1977del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807378A>C | CA480062536 | SCN8A | c.5892A>C (p.Gly1964=) c.5769A>C (p.Gly1923=) c.5925A>C (p.Gly1975=) | |
12 | g.51807378A>G | CA480062537 | SCN8A | c.5892A>G (p.Gly1964=) c.5769A>G (p.Gly1923=) c.5925A>G (p.Gly1975=) | |
12 | g.51807378A>T | CA480062538 | SCN8A | c.5892A>T (p.Gly1964=) c.5769A>T (p.Gly1923=) c.5925A>T (p.Gly1975=) | |
12 | g.51807379A= | CA2036195214 | SCN8A | c.5893A= (p.Arg1965=) c.5770A= (p.Arg1924=) c.5926A= (p.Arg1976=) | |
12 | g.51807379A>C | CA480062540 | SCN8A | c.5893A>C (p.Arg1965=) c.5770A>C (p.Arg1924=) c.5926A>C (p.Arg1976=) | |
12 | g.51807379A>G | CA236328002 | SCN8A | c.5893A>G (p.Arg1965Gly) c.5770A>G (p.Arg1924Gly) c.5926A>G (p.Arg1976Gly) | dbSNP gnomAD v4 |
12 | g.51807379A>T | CA384890324 | SCN8A | c.5893A>T (p.Arg1965Ter) c.5770A>T (p.Arg1924Ter) c.5926A>T (p.Arg1976Ter) | dbSNP |
12 | g.51807380G>A | CA6571967 | SCN8A | c.5894G>A (p.Arg1965Lys) c.5771G>A (p.Arg1924Lys) c.5927G>A (p.Arg1976Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51807380G>C | CA384890346 | SCN8A | c.5894G>C (p.Arg1965Thr) c.5771G>C (p.Arg1924Thr) c.5927G>C (p.Arg1976Thr) | |
12 | g.51807380G= | CA2036195221 | SCN8A | c.5894G= (p.Arg1965=) c.5771G= (p.Arg1924=) c.5927G= (p.Arg1976=) | |
12 | g.51807380G>T | CA384890352 | SCN8A | c.5894G>T (p.Arg1965Ile) c.5771G>T (p.Arg1924Ile) c.5927G>T (p.Arg1976Ile) | |
12 | g.51807381A= | CA2036195224 | SCN8A | c.5895A= (p.Arg1965=) c.5772A= (p.Arg1924=) c.5928A= (p.Arg1976=) | |
12 | g.51807381A>C | CA384890353 | SCN8A | c.5895A>C (p.Arg1965Ser) c.5772A>C (p.Arg1924Ser) c.5928A>C (p.Arg1976Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51807381A>G | CA480062544 | SCN8A | c.5895A>G (p.Arg1965=) c.5772A>G (p.Arg1924=) c.5928A>G (p.Arg1976=) | |
12 | g.51807381A>T | CA384890354 | SCN8A | c.5895A>T (p.Arg1965Ser) c.5772A>T (p.Arg1924Ser) c.5928A>T (p.Arg1976Ser) | |
12 | g.51807382A>C | CA480062548 | SCN8A | c.5896A>C (p.Arg1966=) c.5773A>C (p.Arg1925=) c.5929A>C (p.Arg1977=) | ClinVar dbSNP |
12 | g.51807382A>G | CA384890356 | SCN8A | c.5896A>G (p.Arg1966Gly) c.5773A>G (p.Arg1925Gly) c.5929A>G (p.Arg1977Gly) | |
12 | g.51807382A>T | CA384890359 | SCN8A | c.5896A>T (p.Arg1966Trp) c.5773A>T (p.Arg1925Trp) c.5929A>T (p.Arg1977Trp) | |
12 | g.51807383G>A | CA384890373 | SCN8A | c.5897G>A (p.Arg1966Lys) c.5774G>A (p.Arg1925Lys) c.5930G>A (p.Arg1977Lys) | ClinVar gnomAD v4 |
12 | g.51807383G>C | CA6571968 | SCN8A | c.5897G>C (p.Arg1966Thr) c.5774G>C (p.Arg1925Thr) c.5930G>C (p.Arg1977Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807383G= | CA2036195226 | SCN8A | c.5897G= (p.Arg1966=) c.5774G= (p.Arg1925=) c.5930G= (p.Arg1977=) | |
12 | g.51807383G>T | CA384890372 | SCN8A | c.5897G>T (p.Arg1966Met) c.5774G>T (p.Arg1925Met) c.5930G>T (p.Arg1977Met) | |
12 | g.51807384G>A | CA480062554 | SCN8A | c.5898G>A (p.Arg1966=) c.5775G>A (p.Arg1925=) c.5931G>A (p.Arg1977=) | |
12 | g.51807384G>C | CA384890379 | SCN8A | c.5898G>C (p.Arg1966Ser) c.5775G>C (p.Arg1925Ser) c.5931G>C (p.Arg1977Ser) | |
12 | g.51807384G>T | CA384890383 | SCN8A | c.5898G>T (p.Arg1966Ser) c.5775G>T (p.Arg1925Ser) c.5931G>T (p.Arg1977Ser) | |
12 | g.51807385G>A | CA384890385 | SCN8A | c.5899G>A (p.Glu1967Lys) c.5776G>A (p.Glu1926Lys) c.5932G>A (p.Glu1978Lys) | |
12 | g.51807385G>C | CA384890400 | SCN8A | c.5899G>C (p.Glu1967Gln) c.5776G>C (p.Glu1926Gln) c.5932G>C (p.Glu1978Gln) | |
12 | g.51807385G= | CA2036195229 | SCN8A | c.5899G= (p.Glu1967=) c.5776G= (p.Glu1926=) c.5932G= (p.Glu1978=) | |
12 | g.51807385G>T | CA384890401 | SCN8A | c.5899G>T (p.Glu1967Ter) c.5776G>T (p.Glu1926Ter) c.5932G>T (p.Glu1978Ter) | dbSNP |
12 | g.51807386A>C | CA384890416 | SCN8A | c.5900A>C (p.Glu1967Ala) c.5777A>C (p.Glu1926Ala) c.5933A>C (p.Glu1978Ala) | |
12 | g.51807386A>G | CA384890413 | SCN8A | c.5900A>G (p.Glu1967Gly) c.5777A>G (p.Glu1926Gly) c.5933A>G (p.Glu1978Gly) | |
12 | g.51807386A>T | CA384890404 | SCN8A | c.5900A>T (p.Glu1967Val) c.5777A>T (p.Glu1926Val) c.5933A>T (p.Glu1978Val) | |
12 | g.51807387A>C | CA384890420 | SCN8A | c.5901A>C (p.Glu1967Asp) c.5778A>C (p.Glu1926Asp) c.5934A>C (p.Glu1978Asp) | |
12 | g.51807387A>G | CA480062559 | SCN8A | c.5901A>G (p.Glu1967=) c.5778A>G (p.Glu1926=) c.5934A>G (p.Glu1978=) | gnomAD v4 |
12 | g.51807387A>T | CA384890424 | SCN8A | c.5901A>T (p.Glu1967Asp) c.5778A>T (p.Glu1926Asp) c.5934A>T (p.Glu1978Asp) | |
12 | g.51807387_51807389delinsAAG | CA2036195231 | SCN8A | c.5901_5903delinsAAG (p.Glu1967=) c.5778_5780delinsAAG (p.Glu1926=) c.5934_5936delinsAAG (p.Glu1978=) | |
12 | g.51807388A= | CA2036195238 | SCN8A | c.5902A= (p.Arg1968=) c.5779A= (p.Arg1927=) c.5935A= (p.Arg1979=) | |
12 | g.51807388A>C | CA480062562 | SCN8A | c.5902A>C (p.Arg1968=) c.5779A>C (p.Arg1927=) c.5935A>C (p.Arg1979=) | |
12 | g.51807388A>G | CA384890427 | SCN8A | c.5902A>G (p.Arg1968Gly) c.5779A>G (p.Arg1927Gly) c.5935A>G (p.Arg1979Gly) | gnomAD v4 |
12 | g.51807388A>T | CA384890430 | SCN8A | c.5902A>T (p.Arg1968Ter) c.5779A>T (p.Arg1927Ter) c.5935A>T (p.Arg1979Ter) | dbSNP |
12 | g.51807390_51807391del | CA947652811 | SCN8A | c.5904_5905del (p.Arg1968SerfsTer29) c.5781_5782del (p.Arg1927SerfsTer29) c.5781_5782del (p.Arg1927SerfsTer?) c.5937_5938del (p.Arg1979SerfsTer?) c.5904_5905del (p.Arg1968SerfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51807389G>A | CA6571969 | SCN8A | c.5903G>A (p.Arg1968Lys) c.5780G>A (p.Arg1927Lys) c.5936G>A (p.Arg1979Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51807389G>C | CA384890437 | SCN8A | c.5903G>C (p.Arg1968Thr) c.5780G>C (p.Arg1927Thr) c.5936G>C (p.Arg1979Thr) | ClinVar |
12 | g.51807389G= | CA2036195246 | SCN8A | c.5903G= (p.Arg1968=) c.5780G= (p.Arg1927=) c.5936G= (p.Arg1979=) | |
12 | g.51807389G>T | CA384890439 | SCN8A | c.5903G>T (p.Arg1968Ile) c.5780G>T (p.Arg1927Ile) c.5936G>T (p.Arg1979Ile) | |
12 | g.51807390A>C | CA384890441 | SCN8A | c.5904A>C (p.Arg1968Ser) c.5781A>C (p.Arg1927Ser) c.5937A>C (p.Arg1979Ser) | |
12 | g.51807390A>G | CA480062567 | SCN8A | c.5904A>G (p.Arg1968=) c.5781A>G (p.Arg1927=) c.5937A>G (p.Arg1979=) | |
12 | g.51807390A>T | CA384890442 | SCN8A | c.5904A>T (p.Arg1968Ser) c.5781A>T (p.Arg1927Ser) c.5937A>T (p.Arg1979Ser) | |
12 | g.51807391G>A | CA384890443 | SCN8A | c.5905G>A (p.Ala1969Thr) c.5782G>A (p.Ala1928Thr) c.5938G>A (p.Ala1980Thr) | |
12 | g.51807391G>C | CA384890449 | SCN8A | c.5905G>C (p.Ala1969Pro) c.5782G>C (p.Ala1928Pro) c.5938G>C (p.Ala1980Pro) | dbSNP |
12 | g.51807391G= | CA2036195252 | SCN8A | c.5905G= (p.Ala1969=) c.5782G= (p.Ala1928=) c.5938G= (p.Ala1980=) | |
12 | g.51807391G>T | CA384890446 | SCN8A | c.5905G>T (p.Ala1969Ser) c.5782G>T (p.Ala1928Ser) c.5938G>T (p.Ala1980Ser) | |
12 | g.51807392C>A | CA384890466 | SCN8A | c.5906C>A (p.Ala1969Asp) c.5783C>A (p.Ala1928Asp) c.5939C>A (p.Ala1980Asp) | gnomAD v4 |
12 | g.51807392C>G | CA384890468 | SCN8A | c.5906C>G (p.Ala1969Gly) c.5783C>G (p.Ala1928Gly) c.5939C>G (p.Ala1980Gly) | |
12 | g.51807392C>T | CA384890472 | SCN8A | c.5906C>T (p.Ala1969Val) c.5783C>T (p.Ala1928Val) c.5939C>T (p.Ala1980Val) | gnomAD v4 |
12 | g.51807393C>A | CA480062571 | SCN8A | c.5907C>A (p.Ala1969=) c.5784C>A (p.Ala1928=) c.5940C>A (p.Ala1980=) | |
12 | g.51807393C>G | CA480062573 | SCN8A | c.5907C>G (p.Ala1969=) c.5784C>G (p.Ala1928=) c.5940C>G (p.Ala1980=) | |
12 | g.51807393C>T | CA480062575 | SCN8A | c.5907C>T (p.Ala1969=) c.5784C>T (p.Ala1928=) c.5940C>T (p.Ala1980=) | |
12 | g.51807394A= | CA2036195260 | SCN8A | c.5908A= (p.Lys1970=) c.5785A= (p.Lys1929=) c.5941A= (p.Lys1981=) | |
12 | g.51807394A>C | CA384890475 | SCN8A | c.5908A>C (p.Lys1970Gln) c.5785A>C (p.Lys1929Gln) c.5941A>C (p.Lys1981Gln) | gnomAD v4 |
12 | g.51807394A>G | CA384890478 | SCN8A | c.5908A>G (p.Lys1970Glu) c.5785A>G (p.Lys1929Glu) c.5941A>G (p.Lys1981Glu) | |
12 | g.51807394A>T | CA384890481 | SCN8A | c.5908A>T (p.Lys1970Ter) c.5785A>T (p.Lys1929Ter) c.5941A>T (p.Lys1981Ter) | dbSNP |
12 | g.51807395A>C | CA384890492 | SCN8A | c.5909A>C (p.Lys1970Thr) c.5786A>C (p.Lys1929Thr) c.5942A>C (p.Lys1981Thr) | |
12 | g.51807395A>G | CA384890498 | SCN8A | c.5909A>G (p.Lys1970Arg) c.5786A>G (p.Lys1929Arg) c.5942A>G (p.Lys1981Arg) | |
12 | g.51807395A>T | CA384890501 | SCN8A | c.5909A>T (p.Lys1970Ile) c.5786A>T (p.Lys1929Ile) c.5942A>T (p.Lys1981Ile) |