Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38550459_38550476dup | CA2755900265 | SCN5A | c.5897_5914dup (p.Ser1971_Phe1972insSerIleSerSerThrSer) c.5900_5917dup (p.Ser1972_Phe1973insSerIleSerSerThrSer) c.5846_5863dup (p.Ser1954_Phe1955insSerIleSerSerThrSer) c.5738_5755dup (p.Ser1918_Phe1919insSerIleSerSerThrSer) c.5801_5818dup (p.Ser1939_Phe1940insSerIleSerSerThrSer) c.5771_5788dup (p.Ser1929_Phe1930insSerIleSerSerThrSer) c.5843_5860dup (p.Ser1953_Phe1954insSerIleSerSerThrSer) | |
3 | g.38550469_38550477dup | CA2499216736 | SCN5A | c.5900_5908dup (p.Ser1969_Thr1970insIleSerSer) c.5903_5911dup (p.Ser1970_Thr1971insIleSerSer) c.5849_5857dup (p.Ser1952_Thr1953insIleSerSer) c.5741_5749dup (p.Ser1916_Thr1917insIleSerSer) c.5804_5812dup (p.Ser1937_Thr1938insIleSerSer) c.5774_5782dup (p.Ser1927_Thr1928insIleSerSer) c.5846_5854dup (p.Ser1951_Thr1952insIleSerSer) | ClinVar dbSNP |
3 | g.38550469_38550477del | CA906906409 | SCN5A | c.5900_5908del (p.Ile1967_Ser1969del) c.5903_5911del (p.Ile1968_Ser1970del) c.5849_5857del (p.Ile1950_Ser1952del) c.5741_5749del (p.Ile1914_Ser1916del) c.5804_5812del (p.Ile1935_Ser1937del) c.5774_5782del (p.Ile1925_Ser1927del) c.5846_5854del (p.Ile1949_Ser1951del) | dbSNP |
3 | g.38550470T>A | CA352139513 | SCN5A | c.5899A>T (p.Ile1967Phe) c.5902A>T (p.Ile1968Phe) c.5848A>T (p.Ile1950Phe) c.5740A>T (p.Ile1914Phe) c.5803A>T (p.Ile1935Phe) c.5773A>T (p.Ile1925Phe) c.5845A>T (p.Ile1949Phe) | |
3 | g.38550470T>C | CA064971 | SCN5A | c.5899A>G (p.Ile1967Val) c.5902A>G (p.Ile1968Val) c.5848A>G (p.Ile1950Val) c.5740A>G (p.Ile1914Val) c.5803A>G (p.Ile1935Val) c.5773A>G (p.Ile1925Val) c.5845A>G (p.Ile1949Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550470T>G | CA352139514 | SCN5A | c.5899A>C (p.Ile1967Leu) c.5902A>C (p.Ile1968Leu) c.5848A>C (p.Ile1950Leu) c.5740A>C (p.Ile1914Leu) c.5803A>C (p.Ile1935Leu) c.5773A>C (p.Ile1925Leu) c.5845A>C (p.Ile1949Leu) | |
3 | g.38550470T= | CA1358555842 | SCN5A | c.5899A= (p.Ile1967=) c.5902A= (p.Ile1968=) c.5848A= (p.Ile1950=) c.5740A= (p.Ile1914=) c.5803A= (p.Ile1935=) c.5773A= (p.Ile1925=) c.5845A= (p.Ile1949=) | |
3 | g.38550476_38550484del | CA2580069722 | SCN5A | c.5891_5899del (p.Ser1964_Ser1966del) c.5894_5902del (p.Ser1965_Ser1967del) c.5840_5848del (p.Ser1947_Ser1949del) c.5732_5740del (p.Ser1911_Ser1913del) c.5795_5803del (p.Ser1932_Ser1934del) c.5765_5773del (p.Ser1922_Ser1924del) c.5837_5845del (p.Ser1946_Ser1948del) | ClinVar |
3 | g.38550471G>A | CA433331448 | SCN5A | c.5898C>T (p.Ser1966=) c.5901C>T (p.Ser1967=) c.5847C>T (p.Ser1949=) c.5739C>T (p.Ser1913=) c.5802C>T (p.Ser1934=) c.5772C>T (p.Ser1924=) c.5844C>T (p.Ser1948=) | |
3 | g.38550471G>C | CA433331449 | SCN5A | c.5898C>G (p.Ser1966=) c.5901C>G (p.Ser1967=) c.5847C>G (p.Ser1949=) c.5739C>G (p.Ser1913=) c.5802C>G (p.Ser1934=) c.5772C>G (p.Ser1924=) c.5844C>G (p.Ser1948=) | |
3 | g.38550471G>T | CA433331450 | SCN5A | c.5898C>A (p.Ser1966=) c.5901C>A (p.Ser1967=) c.5847C>A (p.Ser1949=) c.5739C>A (p.Ser1913=) c.5802C>A (p.Ser1934=) c.5772C>A (p.Ser1924=) c.5844C>A (p.Ser1948=) | |
3 | g.38550472G>A | CA352139515 | SCN5A | c.5897C>T (p.Ser1966Phe) c.5900C>T (p.Ser1967Phe) c.5846C>T (p.Ser1949Phe) c.5738C>T (p.Ser1913Phe) c.5801C>T (p.Ser1934Phe) c.5771C>T (p.Ser1924Phe) c.5843C>T (p.Ser1948Phe) | |
3 | g.38550472G>C | CA352139518 | SCN5A | c.5897C>G (p.Ser1966Cys) c.5900C>G (p.Ser1967Cys) c.5846C>G (p.Ser1949Cys) c.5738C>G (p.Ser1913Cys) c.5801C>G (p.Ser1934Cys) c.5771C>G (p.Ser1924Cys) c.5843C>G (p.Ser1948Cys) | ClinVar dbSNP |
3 | g.38550472G>T | CA352139516 | SCN5A | c.5897C>A (p.Ser1966Tyr) c.5900C>A (p.Ser1967Tyr) c.5846C>A (p.Ser1949Tyr) c.5738C>A (p.Ser1913Tyr) c.5801C>A (p.Ser1934Tyr) c.5771C>A (p.Ser1924Tyr) c.5843C>A (p.Ser1948Tyr) | |
3 | g.38550473del | CA1139532803 | SCN5A | c.5896del (p.Ser1966ProfsTer?) c.5899del (p.Ser1967ProfsTer?) c.5845del (p.Ser1949ProfsTer?) c.5737del (p.Ser1913ProfsTer?) c.5800del (p.Ser1934ProfsTer?) c.5770del (p.Ser1924ProfsTer?) c.5842del (p.Ser1948ProfsTer?) | ClinVar |
3 | g.38550473A= | CA1358555844 | SCN5A | c.5896T= (p.Ser1966=) c.5899T= (p.Ser1967=) c.5845T= (p.Ser1949=) c.5737T= (p.Ser1913=) c.5800T= (p.Ser1934=) c.5770T= (p.Ser1924=) c.5842T= (p.Ser1948=) | |
3 | g.38550473A>C | CA352139520 | SCN5A | c.5896T>G (p.Ser1966Ala) c.5899T>G (p.Ser1967Ala) c.5845T>G (p.Ser1949Ala) c.5737T>G (p.Ser1913Ala) c.5800T>G (p.Ser1934Ala) c.5770T>G (p.Ser1924Ala) c.5842T>G (p.Ser1948Ala) | |
3 | g.38550473A>G | CA352139523 | SCN5A | c.5896T>C (p.Ser1966Pro) c.5899T>C (p.Ser1967Pro) c.5845T>C (p.Ser1949Pro) c.5737T>C (p.Ser1913Pro) c.5800T>C (p.Ser1934Pro) c.5770T>C (p.Ser1924Pro) c.5842T>C (p.Ser1948Pro) | |
3 | g.38550473A>T | CA352139524 | SCN5A | c.5896T>A (p.Ser1966Thr) c.5899T>A (p.Ser1967Thr) c.5845T>A (p.Ser1949Thr) c.5737T>A (p.Ser1913Thr) c.5800T>A (p.Ser1934Thr) c.5770T>A (p.Ser1924Thr) c.5842T>A (p.Ser1948Thr) | |
3 | g.38550474G>A | CA433331451 | SCN5A | c.5895C>T (p.Ser1965=) c.5898C>T (p.Ser1966=) c.5844C>T (p.Ser1948=) c.5736C>T (p.Ser1912=) c.5799C>T (p.Ser1933=) c.5769C>T (p.Ser1923=) c.5841C>T (p.Ser1947=) | gnomAD v4 |
3 | g.38550474G>C | CA433331453 | SCN5A | c.5895C>G (p.Ser1965=) c.5898C>G (p.Ser1966=) c.5844C>G (p.Ser1948=) c.5736C>G (p.Ser1912=) c.5799C>G (p.Ser1933=) c.5769C>G (p.Ser1923=) c.5841C>G (p.Ser1947=) | gnomAD v4 |
3 | g.38550474G>T | CA433331455 | SCN5A | c.5895C>A (p.Ser1965=) c.5898C>A (p.Ser1966=) c.5844C>A (p.Ser1948=) c.5736C>A (p.Ser1912=) c.5799C>A (p.Ser1933=) c.5769C>A (p.Ser1923=) c.5841C>A (p.Ser1947=) | |
3 | g.38550475dup | CA542615521 | SCN5A | c.5895dup (p.Ser1966LeufsTer12) c.5898dup (p.Ser1967LeufsTer12) c.5844dup (p.Ser1949LeufsTer12) c.5736dup (p.Ser1913LeufsTer12) c.5799dup (p.Ser1934LeufsTer12) c.5769dup (p.Ser1924LeufsTer12) c.5841dup (p.Ser1948LeufsTer12) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550475G>A | CA352139526 | SCN5A | c.5894C>T (p.Ser1965Phe) c.5897C>T (p.Ser1966Phe) c.5843C>T (p.Ser1948Phe) c.5735C>T (p.Ser1912Phe) c.5798C>T (p.Ser1933Phe) c.5768C>T (p.Ser1923Phe) c.5840C>T (p.Ser1947Phe) | |
3 | g.38550475G>C | CA352139528 | SCN5A | c.5894C>G (p.Ser1965Cys) c.5897C>G (p.Ser1966Cys) c.5843C>G (p.Ser1948Cys) c.5735C>G (p.Ser1912Cys) c.5798C>G (p.Ser1933Cys) c.5768C>G (p.Ser1923Cys) c.5840C>G (p.Ser1947Cys) | ClinVar dbSNP |
3 | g.38550475G= | CA1358555849 | SCN5A | c.5894C= (p.Ser1965=) c.5897C= (p.Ser1966=) c.5843C= (p.Ser1948=) c.5735C= (p.Ser1912=) c.5798C= (p.Ser1933=) c.5768C= (p.Ser1923=) c.5840C= (p.Ser1947=) | |
3 | g.38550475G>T | CA352139529 | SCN5A | c.5894C>A (p.Ser1965Tyr) c.5897C>A (p.Ser1966Tyr) c.5843C>A (p.Ser1948Tyr) c.5735C>A (p.Ser1912Tyr) c.5798C>A (p.Ser1933Tyr) c.5768C>A (p.Ser1923Tyr) c.5840C>A (p.Ser1947Tyr) | ClinVar dbSNP |
3 | g.38550476A= | CA1358555852 | SCN5A | c.5893T= (p.Ser1965=) c.5896T= (p.Ser1966=) c.5842T= (p.Ser1948=) c.5734T= (p.Ser1912=) c.5797T= (p.Ser1933=) c.5767T= (p.Ser1923=) c.5839T= (p.Ser1947=) | |
3 | g.38550476A>C | CA352139532 | SCN5A | c.5893T>G (p.Ser1965Ala) c.5896T>G (p.Ser1966Ala) c.5842T>G (p.Ser1948Ala) c.5734T>G (p.Ser1912Ala) c.5797T>G (p.Ser1933Ala) c.5767T>G (p.Ser1923Ala) c.5839T>G (p.Ser1947Ala) | ClinVar |
3 | g.38550476A>G | CA352139533 | SCN5A | c.5893T>C (p.Ser1965Pro) c.5896T>C (p.Ser1966Pro) c.5842T>C (p.Ser1948Pro) c.5734T>C (p.Ser1912Pro) c.5797T>C (p.Ser1933Pro) c.5767T>C (p.Ser1923Pro) c.5839T>C (p.Ser1947Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38550476A>T | CA352139535 | SCN5A | c.5893T>A (p.Ser1965Thr) c.5896T>A (p.Ser1966Thr) c.5842T>A (p.Ser1948Thr) c.5734T>A (p.Ser1912Thr) c.5797T>A (p.Ser1933Thr) c.5767T>A (p.Ser1923Thr) c.5839T>A (p.Ser1947Thr) | |
3 | g.38550477G>A | CA433331457 | SCN5A | c.5892C>T (p.Ser1964=) c.5895C>T (p.Ser1965=) c.5841C>T (p.Ser1947=) c.5733C>T (p.Ser1911=) c.5796C>T (p.Ser1932=) c.5766C>T (p.Ser1922=) c.5838C>T (p.Ser1946=) | dbSNP gnomAD v4 |
3 | g.38550477G>C | CA352139537 | SCN5A | c.5892C>G (p.Ser1964Arg) c.5895C>G (p.Ser1965Arg) c.5841C>G (p.Ser1947Arg) c.5733C>G (p.Ser1911Arg) c.5796C>G (p.Ser1932Arg) c.5766C>G (p.Ser1922Arg) c.5838C>G (p.Ser1946Arg) | ClinVar |
3 | g.38550477G= | CA1358555855 | SCN5A | c.5892C= (p.Ser1964=) c.5895C= (p.Ser1965=) c.5841C= (p.Ser1947=) c.5733C= (p.Ser1911=) c.5796C= (p.Ser1932=) c.5766C= (p.Ser1922=) c.5838C= (p.Ser1946=) | |
3 | g.38550477G>T | CA352139539 | SCN5A | c.5892C>A (p.Ser1964Arg) c.5895C>A (p.Ser1965Arg) c.5841C>A (p.Ser1947Arg) c.5733C>A (p.Ser1911Arg) c.5796C>A (p.Ser1932Arg) c.5766C>A (p.Ser1922Arg) c.5838C>A (p.Ser1946Arg) | |
3 | g.38550478C>A | CA352139543 | SCN5A | c.5891G>T (p.Ser1964Ile) c.5894G>T (p.Ser1965Ile) c.5840G>T (p.Ser1947Ile) c.5732G>T (p.Ser1911Ile) c.5795G>T (p.Ser1932Ile) c.5765G>T (p.Ser1922Ile) c.5837G>T (p.Ser1946Ile) | gnomAD v4 |
3 | g.38550478C= | CA1358555857 | SCN5A | c.5891G= (p.Ser1964=) c.5894G= (p.Ser1965=) c.5840G= (p.Ser1947=) c.5732G= (p.Ser1911=) c.5795G= (p.Ser1932=) c.5765G= (p.Ser1922=) c.5837G= (p.Ser1946=) | |
3 | g.38550478C>G | CA352139545 | SCN5A | c.5891G>C (p.Ser1964Thr) c.5894G>C (p.Ser1965Thr) c.5840G>C (p.Ser1947Thr) c.5732G>C (p.Ser1911Thr) c.5795G>C (p.Ser1932Thr) c.5765G>C (p.Ser1922Thr) c.5837G>C (p.Ser1946Thr) | |
3 | g.38550478C>T | CA352139541 | SCN5A | c.5891G>A (p.Ser1964Asn) c.5894G>A (p.Ser1965Asn) c.5840G>A (p.Ser1947Asn) c.5732G>A (p.Ser1911Asn) c.5795G>A (p.Ser1932Asn) c.5765G>A (p.Ser1922Asn) c.5837G>A (p.Ser1946Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550479T>A | CA352139549 | SCN5A | c.5890A>T (p.Ser1964Cys) c.5893A>T (p.Ser1965Cys) c.5839A>T (p.Ser1947Cys) c.5731A>T (p.Ser1911Cys) c.5794A>T (p.Ser1932Cys) c.5764A>T (p.Ser1922Cys) c.5836A>T (p.Ser1946Cys) | |
3 | g.38550479T>C | CA064965 | SCN5A | c.5890A>G (p.Ser1964Gly) c.5893A>G (p.Ser1965Gly) c.5839A>G (p.Ser1947Gly) c.5731A>G (p.Ser1911Gly) c.5794A>G (p.Ser1932Gly) c.5764A>G (p.Ser1922Gly) c.5836A>G (p.Ser1946Gly) | dbSNP ExAC gnomAD v2 |
3 | g.38550479T>G | CA352139548 | SCN5A | c.5890A>C (p.Ser1964Arg) c.5893A>C (p.Ser1965Arg) c.5839A>C (p.Ser1947Arg) c.5731A>C (p.Ser1911Arg) c.5794A>C (p.Ser1932Arg) c.5764A>C (p.Ser1922Arg) c.5836A>C (p.Ser1946Arg) | |
3 | g.38550479T= | CA1358555860 | SCN5A | c.5890A= (p.Ser1964=) c.5893A= (p.Ser1965=) c.5839A= (p.Ser1947=) c.5731A= (p.Ser1911=) c.5794A= (p.Ser1932=) c.5764A= (p.Ser1922=) c.5836A= (p.Ser1946=) | |
3 | g.38550480G>A | CA433331459 | SCN5A | c.5889C>T (p.Ser1963=) c.5892C>T (p.Ser1964=) c.5838C>T (p.Ser1946=) c.5730C>T (p.Ser1910=) c.5793C>T (p.Ser1931=) c.5763C>T (p.Ser1921=) c.5835C>T (p.Ser1945=) | ClinVar |
3 | g.38550480G>C | CA433331461 | SCN5A | c.5889C>G (p.Ser1963=) c.5892C>G (p.Ser1964=) c.5838C>G (p.Ser1946=) c.5730C>G (p.Ser1910=) c.5793C>G (p.Ser1931=) c.5763C>G (p.Ser1921=) c.5835C>G (p.Ser1945=) | |
3 | g.38550480G>T | CA433331462 | SCN5A | c.5889C>A (p.Ser1963=) c.5892C>A (p.Ser1964=) c.5838C>A (p.Ser1946=) c.5730C>A (p.Ser1910=) c.5793C>A (p.Ser1931=) c.5763C>A (p.Ser1921=) c.5835C>A (p.Ser1945=) | |
3 | g.38550481G>A | CA019527 | SCN5A | c.5888C>T (p.Ser1963Phe) c.5891C>T (p.Ser1964Phe) c.5837C>T (p.Ser1946Phe) c.5729C>T (p.Ser1910Phe) c.5792C>T (p.Ser1931Phe) c.5762C>T (p.Ser1921Phe) c.5834C>T (p.Ser1945Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550481G>C | CA352139552 | SCN5A | c.5888C>G (p.Ser1963Cys) c.5891C>G (p.Ser1964Cys) c.5837C>G (p.Ser1946Cys) c.5729C>G (p.Ser1910Cys) c.5792C>G (p.Ser1931Cys) c.5762C>G (p.Ser1921Cys) c.5834C>G (p.Ser1945Cys) | |
3 | g.38550481G= | CA1358555864 | SCN5A | c.5888C= (p.Ser1963=) c.5891C= (p.Ser1964=) c.5837C= (p.Ser1946=) c.5729C= (p.Ser1910=) c.5792C= (p.Ser1931=) c.5762C= (p.Ser1921=) c.5834C= (p.Ser1945=) | |
3 | g.38550481G>T | CA352139554 | SCN5A | c.5888C>A (p.Ser1963Tyr) c.5891C>A (p.Ser1964Tyr) c.5837C>A (p.Ser1946Tyr) c.5729C>A (p.Ser1910Tyr) c.5792C>A (p.Ser1931Tyr) c.5762C>A (p.Ser1921Tyr) c.5834C>A (p.Ser1945Tyr) | |
3 | g.38550482A>C | CA352139559 | SCN5A | c.5887T>G (p.Ser1963Ala) c.5890T>G (p.Ser1964Ala) c.5836T>G (p.Ser1946Ala) c.5728T>G (p.Ser1910Ala) c.5791T>G (p.Ser1931Ala) c.5761T>G (p.Ser1921Ala) c.5833T>G (p.Ser1945Ala) | |
3 | g.38550482A>G | CA352139558 | SCN5A | c.5887T>C (p.Ser1963Pro) c.5890T>C (p.Ser1964Pro) c.5836T>C (p.Ser1946Pro) c.5728T>C (p.Ser1910Pro) c.5791T>C (p.Ser1931Pro) c.5761T>C (p.Ser1921Pro) c.5833T>C (p.Ser1945Pro) | |
3 | g.38550482A>T | CA352139556 | SCN5A | c.5887T>A (p.Ser1963Thr) c.5890T>A (p.Ser1964Thr) c.5836T>A (p.Ser1946Thr) c.5728T>A (p.Ser1910Thr) c.5791T>A (p.Ser1931Thr) c.5761T>A (p.Ser1921Thr) c.5833T>A (p.Ser1945Thr) | |
3 | g.38550483G>A | CA72937720 | SCN5A | c.5886C>T (p.Pro1962=) c.5889C>T (p.Pro1963=) c.5835C>T (p.Pro1945=) c.5727C>T (p.Pro1909=) c.5790C>T (p.Pro1930=) c.5760C>T (p.Pro1920=) c.5832C>T (p.Pro1944=) | ClinVar dbSNP |
3 | g.38550483G>C | CA433331465 | SCN5A | c.5886C>G (p.Pro1962=) c.5889C>G (p.Pro1963=) c.5835C>G (p.Pro1945=) c.5727C>G (p.Pro1909=) c.5790C>G (p.Pro1930=) c.5760C>G (p.Pro1920=) c.5832C>G (p.Pro1944=) | ClinVar |
3 | g.38550483G= | CA1358555870 | SCN5A | c.5886C= (p.Pro1962=) c.5889C= (p.Pro1963=) c.5835C= (p.Pro1945=) c.5727C= (p.Pro1909=) c.5790C= (p.Pro1930=) c.5760C= (p.Pro1920=) c.5832C= (p.Pro1944=) | |
3 | g.38550483G>T | CA433331466 | SCN5A | c.5886C>A (p.Pro1962=) c.5889C>A (p.Pro1963=) c.5835C>A (p.Pro1945=) c.5727C>A (p.Pro1909=) c.5790C>A (p.Pro1930=) c.5760C>A (p.Pro1920=) c.5832C>A (p.Pro1944=) | |
3 | g.38550484G>A | CA064954 | SCN5A | c.5885C>T (p.Pro1962Leu) c.5888C>T (p.Pro1963Leu) c.5834C>T (p.Pro1945Leu) c.5726C>T (p.Pro1909Leu) c.5789C>T (p.Pro1930Leu) c.5759C>T (p.Pro1920Leu) c.5831C>T (p.Pro1944Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550484G>C | CA352139562 | SCN5A | c.5885C>G (p.Pro1962Arg) c.5888C>G (p.Pro1963Arg) c.5834C>G (p.Pro1945Arg) c.5726C>G (p.Pro1909Arg) c.5789C>G (p.Pro1930Arg) c.5759C>G (p.Pro1920Arg) c.5831C>G (p.Pro1944Arg) | |
3 | g.38550484G= | CA1358555875 | SCN5A | c.5885C= (p.Pro1962=) c.5888C= (p.Pro1963=) c.5834C= (p.Pro1945=) c.5726C= (p.Pro1909=) c.5789C= (p.Pro1930=) c.5759C= (p.Pro1920=) c.5831C= (p.Pro1944=) | |
3 | g.38550484G>T | CA352139564 | SCN5A | c.5885C>A (p.Pro1962His) c.5888C>A (p.Pro1963His) c.5834C>A (p.Pro1945His) c.5726C>A (p.Pro1909His) c.5789C>A (p.Pro1930His) c.5759C>A (p.Pro1920His) c.5831C>A (p.Pro1944His) | gnomAD v4 |
3 | g.38550485G>A | CA352139566 | SCN5A | c.5884C>T (p.Pro1962Ser) c.5887C>T (p.Pro1963Ser) c.5833C>T (p.Pro1945Ser) c.5725C>T (p.Pro1909Ser) c.5788C>T (p.Pro1930Ser) c.5758C>T (p.Pro1920Ser) c.5830C>T (p.Pro1944Ser) | |
3 | g.38550485G>C | CA352139568 | SCN5A | c.5884C>G (p.Pro1962Ala) c.5887C>G (p.Pro1963Ala) c.5833C>G (p.Pro1945Ala) c.5725C>G (p.Pro1909Ala) c.5788C>G (p.Pro1930Ala) c.5758C>G (p.Pro1920Ala) c.5830C>G (p.Pro1944Ala) | gnomAD v4 |
3 | g.38550485G>T | CA352139569 | SCN5A | c.5884C>A (p.Pro1962Thr) c.5887C>A (p.Pro1963Thr) c.5833C>A (p.Pro1945Thr) c.5725C>A (p.Pro1909Thr) c.5788C>A (p.Pro1930Thr) c.5758C>A (p.Pro1920Thr) c.5830C>A (p.Pro1944Thr) | |
3 | g.38550486T>A | CA433331469 | SCN5A | c.5883A>T (p.Pro1961=) c.5886A>T (p.Pro1962=) c.5832A>T (p.Pro1944=) c.5724A>T (p.Pro1908=) c.5787A>T (p.Pro1929=) c.5757A>T (p.Pro1919=) c.5829A>T (p.Pro1943=) | |
3 | g.38550486T>C | CA433331471 | SCN5A | c.5883A>G (p.Pro1961=) c.5886A>G (p.Pro1962=) c.5832A>G (p.Pro1944=) c.5724A>G (p.Pro1908=) c.5787A>G (p.Pro1929=) c.5757A>G (p.Pro1919=) c.5829A>G (p.Pro1943=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550486T>G | CA433331470 | SCN5A | c.5883A>C (p.Pro1961=) c.5886A>C (p.Pro1962=) c.5832A>C (p.Pro1944=) c.5724A>C (p.Pro1908=) c.5787A>C (p.Pro1929=) c.5757A>C (p.Pro1919=) c.5829A>C (p.Pro1943=) | dbSNP |
3 | g.38550486T= | CA1358555878 | SCN5A | c.5883A= (p.Pro1961=) c.5886A= (p.Pro1962=) c.5832A= (p.Pro1944=) c.5724A= (p.Pro1908=) c.5787A= (p.Pro1929=) c.5757A= (p.Pro1919=) c.5829A= (p.Pro1943=) | |
3 | g.38550487G>A | CA019523 | SCN5A | c.5882C>T (p.Pro1961Leu) c.5885C>T (p.Pro1962Leu) c.5831C>T (p.Pro1944Leu) c.5723C>T (p.Pro1908Leu) c.5786C>T (p.Pro1929Leu) c.5756C>T (p.Pro1919Leu) c.5828C>T (p.Pro1943Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550487G>C | CA352139572 | SCN5A | c.5882C>G (p.Pro1961Arg) c.5885C>G (p.Pro1962Arg) c.5831C>G (p.Pro1944Arg) c.5723C>G (p.Pro1908Arg) c.5786C>G (p.Pro1929Arg) c.5756C>G (p.Pro1919Arg) c.5828C>G (p.Pro1943Arg) | |
3 | g.38550487G= | CA1358555883 | SCN5A | c.5882C= (p.Pro1961=) c.5885C= (p.Pro1962=) c.5831C= (p.Pro1944=) c.5723C= (p.Pro1908=) c.5786C= (p.Pro1929=) c.5756C= (p.Pro1919=) c.5828C= (p.Pro1943=) | |
3 | g.38550487G>T | CA352139574 | SCN5A | c.5882C>A (p.Pro1961Gln) c.5885C>A (p.Pro1962Gln) c.5831C>A (p.Pro1944Gln) c.5723C>A (p.Pro1908Gln) c.5786C>A (p.Pro1929Gln) c.5756C>A (p.Pro1919Gln) c.5828C>A (p.Pro1943Gln) | |
3 | g.38550488G>A | CA352139575 | SCN5A | c.5881C>T (p.Pro1961Ser) c.5884C>T (p.Pro1962Ser) c.5830C>T (p.Pro1944Ser) c.5722C>T (p.Pro1908Ser) c.5785C>T (p.Pro1929Ser) c.5755C>T (p.Pro1919Ser) c.5827C>T (p.Pro1943Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550488G>C | CA352139576 | SCN5A | c.5881C>G (p.Pro1961Ala) c.5884C>G (p.Pro1962Ala) c.5830C>G (p.Pro1944Ala) c.5722C>G (p.Pro1908Ala) c.5785C>G (p.Pro1929Ala) c.5755C>G (p.Pro1919Ala) c.5827C>G (p.Pro1943Ala) | |
3 | g.38550488G= | CA1358555887 | SCN5A | c.5881C= (p.Pro1961=) c.5884C= (p.Pro1962=) c.5830C= (p.Pro1944=) c.5722C= (p.Pro1908=) c.5785C= (p.Pro1929=) c.5755C= (p.Pro1919=) c.5827C= (p.Pro1943=) | |
3 | g.38550488G>T | CA352139578 | SCN5A | c.5881C>A (p.Pro1961Thr) c.5884C>A (p.Pro1962Thr) c.5830C>A (p.Pro1944Thr) c.5722C>A (p.Pro1908Thr) c.5785C>A (p.Pro1929Thr) c.5755C>A (p.Pro1919Thr) c.5827C>A (p.Pro1943Thr) | |
3 | g.38550489G>A | CA433331474 | SCN5A | c.5880C>T (p.Gly1960=) c.5883C>T (p.Gly1961=) c.5829C>T (p.Gly1943=) c.5721C>T (p.Gly1907=) c.5784C>T (p.Gly1928=) c.5754C>T (p.Gly1918=) c.5826C>T (p.Gly1942=) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550489G>C | CA433331475 | SCN5A | c.5880C>G (p.Gly1960=) c.5883C>G (p.Gly1961=) c.5829C>G (p.Gly1943=) c.5721C>G (p.Gly1907=) c.5784C>G (p.Gly1928=) c.5754C>G (p.Gly1918=) c.5826C>G (p.Gly1942=) | |
3 | g.38550489G>T | CA433331476 | SCN5A | c.5880C>A (p.Gly1960=) c.5883C>A (p.Gly1961=) c.5829C>A (p.Gly1943=) c.5721C>A (p.Gly1907=) c.5784C>A (p.Gly1928=) c.5754C>A (p.Gly1918=) c.5826C>A (p.Gly1942=) | |
3 | g.38550490C>A | CA352139579 | SCN5A | c.5879G>T (p.Gly1960Val) c.5882G>T (p.Gly1961Val) c.5828G>T (p.Gly1943Val) c.5720G>T (p.Gly1907Val) c.5783G>T (p.Gly1928Val) c.5753G>T (p.Gly1918Val) c.5825G>T (p.Gly1942Val) | gnomAD v4 |
3 | g.38550490C>G | CA352139581 | SCN5A | c.5879G>C (p.Gly1960Ala) c.5882G>C (p.Gly1961Ala) c.5828G>C (p.Gly1943Ala) c.5720G>C (p.Gly1907Ala) c.5783G>C (p.Gly1928Ala) c.5753G>C (p.Gly1918Ala) c.5825G>C (p.Gly1942Ala) | |
3 | g.38550490C>T | CA352139583 | SCN5A | c.5879G>A (p.Gly1960Asp) c.5882G>A (p.Gly1961Asp) c.5828G>A (p.Gly1943Asp) c.5720G>A (p.Gly1907Asp) c.5783G>A (p.Gly1928Asp) c.5753G>A (p.Gly1918Asp) c.5825G>A (p.Gly1942Asp) | ClinVar |
3 | g.38550491C>A | CA352139584 | SCN5A | c.5878G>T (p.Gly1960Cys) c.5881G>T (p.Gly1961Cys) c.5827G>T (p.Gly1943Cys) c.5719G>T (p.Gly1907Cys) c.5782G>T (p.Gly1928Cys) c.5752G>T (p.Gly1918Cys) c.5824G>T (p.Gly1942Cys) | |
3 | g.38550491C= | CA1358555890 | SCN5A | c.5878G= (p.Gly1960=) c.5881G= (p.Gly1961=) c.5827G= (p.Gly1943=) c.5719G= (p.Gly1907=) c.5782G= (p.Gly1928=) c.5752G= (p.Gly1918=) c.5824G= (p.Gly1942=) | |
3 | g.38550491C>G | CA352139586 | SCN5A | c.5878G>C (p.Gly1960Arg) c.5881G>C (p.Gly1961Arg) c.5827G>C (p.Gly1943Arg) c.5719G>C (p.Gly1907Arg) c.5782G>C (p.Gly1928Arg) c.5752G>C (p.Gly1918Arg) c.5824G>C (p.Gly1942Arg) | |
3 | g.38550491C>T | CA352139587 | SCN5A | c.5878G>A (p.Gly1960Ser) c.5881G>A (p.Gly1961Ser) c.5827G>A (p.Gly1943Ser) c.5719G>A (p.Gly1907Ser) c.5782G>A (p.Gly1928Ser) c.5752G>A (p.Gly1918Ser) c.5824G>A (p.Gly1942Ser) | dbSNP gnomAD v4 |
3 | g.38550492A>C | CA433331480 | SCN5A | c.5877T>G (p.Leu1959=) c.5880T>G (p.Leu1960=) c.5826T>G (p.Leu1942=) c.5718T>G (p.Leu1906=) c.5781T>G (p.Leu1927=) c.5751T>G (p.Leu1917=) c.5823T>G (p.Leu1941=) | |
3 | g.38550492A>G | CA433331481 | SCN5A | c.5877T>C (p.Leu1959=) c.5880T>C (p.Leu1960=) c.5826T>C (p.Leu1942=) c.5718T>C (p.Leu1906=) c.5781T>C (p.Leu1927=) c.5751T>C (p.Leu1917=) c.5823T>C (p.Leu1941=) | |
3 | g.38550492A>T | CA433331482 | SCN5A | c.5877T>A (p.Leu1959=) c.5880T>A (p.Leu1960=) c.5826T>A (p.Leu1942=) c.5718T>A (p.Leu1906=) c.5781T>A (p.Leu1927=) c.5751T>A (p.Leu1917=) c.5823T>A (p.Leu1941=) | |
3 | g.38550493A>C | CA352139590 | SCN5A | c.5876T>G (p.Leu1959Arg) c.5879T>G (p.Leu1960Arg) c.5825T>G (p.Leu1942Arg) c.5717T>G (p.Leu1906Arg) c.5780T>G (p.Leu1927Arg) c.5750T>G (p.Leu1917Arg) c.5822T>G (p.Leu1941Arg) | |
3 | g.38550493A>G | CA352139591 | SCN5A | c.5876T>C (p.Leu1959Pro) c.5879T>C (p.Leu1960Pro) c.5825T>C (p.Leu1942Pro) c.5717T>C (p.Leu1906Pro) c.5780T>C (p.Leu1927Pro) c.5750T>C (p.Leu1917Pro) c.5822T>C (p.Leu1941Pro) | gnomAD v4 |
3 | g.38550493A>T | CA352139593 | SCN5A | c.5876T>A (p.Leu1959His) c.5879T>A (p.Leu1960His) c.5825T>A (p.Leu1942His) c.5717T>A (p.Leu1906His) c.5780T>A (p.Leu1927His) c.5750T>A (p.Leu1917His) c.5822T>A (p.Leu1941His) | |
3 | g.38550494G>A | CA352139595 | SCN5A | c.5875C>T (p.Leu1959Phe) c.5878C>T (p.Leu1960Phe) c.5824C>T (p.Leu1942Phe) c.5716C>T (p.Leu1906Phe) c.5779C>T (p.Leu1927Phe) c.5749C>T (p.Leu1917Phe) c.5821C>T (p.Leu1941Phe) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38550494G>C | CA352139599 | SCN5A | c.5875C>G (p.Leu1959Val) c.5878C>G (p.Leu1960Val) c.5824C>G (p.Leu1942Val) c.5716C>G (p.Leu1906Val) c.5779C>G (p.Leu1927Val) c.5749C>G (p.Leu1917Val) c.5821C>G (p.Leu1941Val) | |
3 | g.38550494G= | CA1358555893 | SCN5A | c.5875C= (p.Leu1959=) c.5878C= (p.Leu1960=) c.5824C= (p.Leu1942=) c.5716C= (p.Leu1906=) c.5779C= (p.Leu1927=) c.5749C= (p.Leu1917=) c.5821C= (p.Leu1941=) | |
3 | g.38550494G>T | CA352139597 | SCN5A | c.5875C>A (p.Leu1959Ile) c.5878C>A (p.Leu1960Ile) c.5824C>A (p.Leu1942Ile) c.5716C>A (p.Leu1906Ile) c.5779C>A (p.Leu1927Ile) c.5749C>A (p.Leu1917Ile) c.5821C>A (p.Leu1941Ile) | |
3 | g.38550495G>A | CA433331484 | SCN5A | c.5874C>T (p.Pro1958=) c.5877C>T (p.Pro1959=) c.5823C>T (p.Pro1941=) c.5715C>T (p.Pro1905=) c.5778C>T (p.Pro1926=) c.5748C>T (p.Pro1916=) c.5820C>T (p.Pro1940=) | ClinVar |
3 | g.38550495G>C | CA433331485 | SCN5A | c.5874C>G (p.Pro1958=) c.5877C>G (p.Pro1959=) c.5823C>G (p.Pro1941=) c.5715C>G (p.Pro1905=) c.5778C>G (p.Pro1926=) c.5748C>G (p.Pro1916=) c.5820C>G (p.Pro1940=) | |
3 | g.38550495G>T | CA433331487 | SCN5A | c.5874C>A (p.Pro1958=) c.5877C>A (p.Pro1959=) c.5823C>A (p.Pro1941=) c.5715C>A (p.Pro1905=) c.5778C>A (p.Pro1926=) c.5748C>A (p.Pro1916=) c.5820C>A (p.Pro1940=) | |
3 | g.38550496G>A | CA352139601 | SCN5A | c.5873C>T (p.Pro1958Leu) c.5876C>T (p.Pro1959Leu) c.5822C>T (p.Pro1941Leu) c.5714C>T (p.Pro1905Leu) c.5777C>T (p.Pro1926Leu) c.5747C>T (p.Pro1916Leu) c.5819C>T (p.Pro1940Leu) | |
3 | g.38550496G>C | CA352139602 | SCN5A | c.5873C>G (p.Pro1958Arg) c.5876C>G (p.Pro1959Arg) c.5822C>G (p.Pro1941Arg) c.5714C>G (p.Pro1905Arg) c.5777C>G (p.Pro1926Arg) c.5747C>G (p.Pro1916Arg) c.5819C>G (p.Pro1940Arg) | ClinVar |
3 | g.38550496G>T | CA352139605 | SCN5A | c.5873C>A (p.Pro1958His) c.5876C>A (p.Pro1959His) c.5822C>A (p.Pro1941His) c.5714C>A (p.Pro1905His) c.5777C>A (p.Pro1926His) c.5747C>A (p.Pro1916His) c.5819C>A (p.Pro1940His) | |
3 | g.38550497G>A | CA352139607 | SCN5A | c.5872C>T (p.Pro1958Ser) c.5875C>T (p.Pro1959Ser) c.5821C>T (p.Pro1941Ser) c.5713C>T (p.Pro1905Ser) c.5776C>T (p.Pro1926Ser) c.5746C>T (p.Pro1916Ser) c.5818C>T (p.Pro1940Ser) | dbSNP gnomAD v4 |
3 | g.38550497G>C | CA352139609 | SCN5A | c.5872C>G (p.Pro1958Ala) c.5875C>G (p.Pro1959Ala) c.5821C>G (p.Pro1941Ala) c.5713C>G (p.Pro1905Ala) c.5776C>G (p.Pro1926Ala) c.5746C>G (p.Pro1916Ala) c.5818C>G (p.Pro1940Ala) | |
3 | g.38550497G>T | CA352139610 | SCN5A | c.5872C>A (p.Pro1958Thr) c.5875C>A (p.Pro1959Thr) c.5821C>A (p.Pro1941Thr) c.5713C>A (p.Pro1905Thr) c.5776C>A (p.Pro1926Thr) c.5746C>A (p.Pro1916Thr) c.5818C>A (p.Pro1940Thr) | |
3 | g.38550498T>A | CA433331488 | SCN5A | c.5871A>T (p.Arg1957=) c.5874A>T (p.Arg1958=) c.5820A>T (p.Arg1940=) c.5712A>T (p.Arg1904=) c.5775A>T (p.Arg1925=) c.5745A>T (p.Arg1915=) c.5817A>T (p.Arg1939=) | |
3 | g.38550498T>C | CA433331492 | SCN5A | c.5871A>G (p.Arg1957=) c.5874A>G (p.Arg1958=) c.5820A>G (p.Arg1940=) c.5712A>G (p.Arg1904=) c.5775A>G (p.Arg1925=) c.5745A>G (p.Arg1915=) c.5817A>G (p.Arg1939=) | |
3 | g.38550498T>G | CA433331490 | SCN5A | c.5871A>C (p.Arg1957=) c.5874A>C (p.Arg1958=) c.5820A>C (p.Arg1940=) c.5712A>C (p.Arg1904=) c.5775A>C (p.Arg1925=) c.5745A>C (p.Arg1915=) c.5817A>C (p.Arg1939=) | |
3 | g.38550499C>A | CA352139611 | SCN5A | c.5870G>T (p.Arg1957Leu) c.5873G>T (p.Arg1958Leu) c.5819G>T (p.Arg1940Leu) c.5711G>T (p.Arg1904Leu) c.5774G>T (p.Arg1925Leu) c.5744G>T (p.Arg1915Leu) c.5816G>T (p.Arg1939Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.38550499C= | CA1358555896 | SCN5A | c.5870G= (p.Arg1957=) c.5873G= (p.Arg1958=) c.5819G= (p.Arg1940=) c.5711G= (p.Arg1904=) c.5774G= (p.Arg1925=) c.5744G= (p.Arg1915=) c.5816G= (p.Arg1939=) | |
3 | g.38550499C>G | CA352139613 | SCN5A | c.5870G>C (p.Arg1957Pro) c.5873G>C (p.Arg1958Pro) c.5819G>C (p.Arg1940Pro) c.5711G>C (p.Arg1904Pro) c.5774G>C (p.Arg1925Pro) c.5744G>C (p.Arg1915Pro) c.5816G>C (p.Arg1939Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550499C>T | CA019519 | SCN5A | c.5870G>A (p.Arg1957Gln) c.5873G>A (p.Arg1958Gln) c.5819G>A (p.Arg1940Gln) c.5711G>A (p.Arg1904Gln) c.5774G>A (p.Arg1925Gln) c.5744G>A (p.Arg1915Gln) c.5816G>A (p.Arg1939Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550500G>A | CA019516 | SCN5A | c.5869C>T (p.Arg1957Ter) c.5872C>T (p.Arg1958Ter) c.5818C>T (p.Arg1940Ter) c.5710C>T (p.Arg1904Ter) c.5773C>T (p.Arg1925Ter) c.5743C>T (p.Arg1915Ter) c.5815C>T (p.Arg1939Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550500G>C | CA352139616 | SCN5A | c.5869C>G (p.Arg1957Gly) c.5872C>G (p.Arg1958Gly) c.5818C>G (p.Arg1940Gly) c.5710C>G (p.Arg1904Gly) c.5773C>G (p.Arg1925Gly) c.5743C>G (p.Arg1915Gly) c.5815C>G (p.Arg1939Gly) | gnomAD v4 |
3 | g.38550500G= | CA1358555903 | SCN5A | c.5869C= (p.Arg1957=) c.5872C= (p.Arg1958=) c.5818C= (p.Arg1940=) c.5710C= (p.Arg1904=) c.5773C= (p.Arg1925=) c.5743C= (p.Arg1915=) c.5815C= (p.Arg1939=) | |
3 | g.38550500G>T | CA433331493 | SCN5A | c.5869C>A (p.Arg1957=) c.5872C>A (p.Arg1958=) c.5818C>A (p.Arg1940=) c.5710C>A (p.Arg1904=) c.5773C>A (p.Arg1925=) c.5743C>A (p.Arg1915=) c.5815C>A (p.Arg1939=) | |
3 | g.38550501G>A | CA433331496 | SCN5A | c.5868C>T (p.Ser1956=) c.5871C>T (p.Ser1957=) c.5817C>T (p.Ser1939=) c.5709C>T (p.Ser1903=) c.5772C>T (p.Ser1924=) c.5742C>T (p.Ser1914=) c.5814C>T (p.Ser1938=) | |
3 | g.38550501G>C | CA064935 | SCN5A | c.5868C>G (p.Ser1956=) c.5871C>G (p.Ser1957=) c.5817C>G (p.Ser1939=) c.5709C>G (p.Ser1903=) c.5772C>G (p.Ser1924=) c.5742C>G (p.Ser1914=) c.5814C>G (p.Ser1938=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550501G= | CA1358555910 | SCN5A | c.5868C= (p.Ser1956=) c.5871C= (p.Ser1957=) c.5817C= (p.Ser1939=) c.5709C= (p.Ser1903=) c.5772C= (p.Ser1924=) c.5742C= (p.Ser1914=) c.5814C= (p.Ser1938=) | |
3 | g.38550501G>T | CA433331497 | SCN5A | c.5868C>A (p.Ser1956=) c.5871C>A (p.Ser1957=) c.5817C>A (p.Ser1939=) c.5709C>A (p.Ser1903=) c.5772C>A (p.Ser1924=) c.5742C>A (p.Ser1914=) c.5814C>A (p.Ser1938=) | |
3 | g.38550502G>A | CA352139624 | SCN5A | c.5867C>T (p.Ser1956Phe) c.5870C>T (p.Ser1957Phe) c.5816C>T (p.Ser1939Phe) c.5708C>T (p.Ser1903Phe) c.5771C>T (p.Ser1924Phe) c.5741C>T (p.Ser1914Phe) c.5813C>T (p.Ser1938Phe) | ClinVar COSMIC COSMIC COSMIC |
3 | g.38550502G>C | CA352139620 | SCN5A | c.5867C>G (p.Ser1956Cys) c.5870C>G (p.Ser1957Cys) c.5816C>G (p.Ser1939Cys) c.5708C>G (p.Ser1903Cys) c.5771C>G (p.Ser1924Cys) c.5741C>G (p.Ser1914Cys) c.5813C>G (p.Ser1938Cys) | |
3 | g.38550502G>T | CA352139622 | SCN5A | c.5867C>A (p.Ser1956Tyr) c.5870C>A (p.Ser1957Tyr) c.5816C>A (p.Ser1939Tyr) c.5708C>A (p.Ser1903Tyr) c.5771C>A (p.Ser1924Tyr) c.5741C>A (p.Ser1914Tyr) c.5813C>A (p.Ser1938Tyr) | |
3 | g.38550503A= | CA1358555912 | SCN5A | c.5866T= (p.Ser1956=) c.5869T= (p.Ser1957=) c.5815T= (p.Ser1939=) c.5707T= (p.Ser1903=) c.5770T= (p.Ser1924=) c.5740T= (p.Ser1914=) c.5812T= (p.Ser1938=) | |
3 | g.38550503A>C | CA352139626 | SCN5A | c.5866T>G (p.Ser1956Ala) c.5869T>G (p.Ser1957Ala) c.5815T>G (p.Ser1939Ala) c.5707T>G (p.Ser1903Ala) c.5770T>G (p.Ser1924Ala) c.5740T>G (p.Ser1914Ala) c.5812T>G (p.Ser1938Ala) | |
3 | g.38550503A>G | CA064930 | SCN5A | c.5866T>C (p.Ser1956Pro) c.5869T>C (p.Ser1957Pro) c.5815T>C (p.Ser1939Pro) c.5707T>C (p.Ser1903Pro) c.5770T>C (p.Ser1924Pro) c.5740T>C (p.Ser1914Pro) c.5812T>C (p.Ser1938Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550503A>T | CA352139628 | SCN5A | c.5866T>A (p.Ser1956Thr) c.5869T>A (p.Ser1957Thr) c.5815T>A (p.Ser1939Thr) c.5707T>A (p.Ser1903Thr) c.5770T>A (p.Ser1924Thr) c.5740T>A (p.Ser1914Thr) c.5812T>A (p.Ser1938Thr) | |
3 | g.38550504G>A | CA433331498 | SCN5A | c.5865C>T (p.Phe1955=) c.5868C>T (p.Phe1956=) c.5814C>T (p.Phe1938=) c.5706C>T (p.Phe1902=) c.5769C>T (p.Phe1923=) c.5739C>T (p.Phe1913=) c.5811C>T (p.Phe1937=) | COSMIC COSMIC COSMIC |
3 | g.38550504G>C | CA352139629 | SCN5A | c.5865C>G (p.Phe1955Leu) c.5868C>G (p.Phe1956Leu) c.5814C>G (p.Phe1938Leu) c.5706C>G (p.Phe1902Leu) c.5769C>G (p.Phe1923Leu) c.5739C>G (p.Phe1913Leu) c.5811C>G (p.Phe1937Leu) | |
3 | g.38550504G>T | CA352139630 | SCN5A | c.5865C>A (p.Phe1955Leu) c.5868C>A (p.Phe1956Leu) c.5814C>A (p.Phe1938Leu) c.5706C>A (p.Phe1902Leu) c.5769C>A (p.Phe1923Leu) c.5739C>A (p.Phe1913Leu) c.5811C>A (p.Phe1937Leu) | |
3 | g.38550505A>C | CA352139632 | SCN5A | c.5864T>G (p.Phe1955Cys) c.5867T>G (p.Phe1956Cys) c.5813T>G (p.Phe1938Cys) c.5705T>G (p.Phe1902Cys) c.5768T>G (p.Phe1923Cys) c.5738T>G (p.Phe1913Cys) c.5810T>G (p.Phe1937Cys) | |
3 | g.38550505A>G | CA352139634 | SCN5A | c.5864T>C (p.Phe1955Ser) c.5867T>C (p.Phe1956Ser) c.5813T>C (p.Phe1938Ser) c.5705T>C (p.Phe1902Ser) c.5768T>C (p.Phe1923Ser) c.5738T>C (p.Phe1913Ser) c.5810T>C (p.Phe1937Ser) | ClinVar |
3 | g.38550505A>T | CA352139635 | SCN5A | c.5864T>A (p.Phe1955Tyr) c.5867T>A (p.Phe1956Tyr) c.5813T>A (p.Phe1938Tyr) c.5705T>A (p.Phe1902Tyr) c.5768T>A (p.Phe1923Tyr) c.5738T>A (p.Phe1913Tyr) c.5810T>A (p.Phe1937Tyr) | |
3 | g.38550506A>C | CA352139637 | SCN5A | c.5863T>G (p.Phe1955Val) c.5866T>G (p.Phe1956Val) c.5812T>G (p.Phe1938Val) c.5704T>G (p.Phe1902Val) c.5767T>G (p.Phe1923Val) c.5737T>G (p.Phe1913Val) c.5809T>G (p.Phe1937Val) | |
3 | g.38550506A>G | CA352139639 | SCN5A | c.5863T>C (p.Phe1955Leu) c.5866T>C (p.Phe1956Leu) c.5812T>C (p.Phe1938Leu) c.5704T>C (p.Phe1902Leu) c.5767T>C (p.Phe1923Leu) c.5737T>C (p.Phe1913Leu) c.5809T>C (p.Phe1937Leu) | |
3 | g.38550506A>T | CA352139640 | SCN5A | c.5863T>A (p.Phe1955Ile) c.5866T>A (p.Phe1956Ile) c.5812T>A (p.Phe1938Ile) c.5704T>A (p.Phe1902Ile) c.5767T>A (p.Phe1923Ile) c.5737T>A (p.Phe1913Ile) c.5809T>A (p.Phe1937Ile) | |
3 | g.38550507G>A | CA064925 | SCN5A | c.5862C>T (p.Asn1954=) c.5865C>T (p.Asn1955=) c.5811C>T (p.Asn1937=) c.5703C>T (p.Asn1901=) c.5766C>T (p.Asn1922=) c.5736C>T (p.Asn1912=) c.5808C>T (p.Asn1936=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550507G>C | CA352139645 | SCN5A | c.5862C>G (p.Asn1954Lys) c.5865C>G (p.Asn1955Lys) c.5811C>G (p.Asn1937Lys) c.5703C>G (p.Asn1901Lys) c.5766C>G (p.Asn1922Lys) c.5736C>G (p.Asn1912Lys) c.5808C>G (p.Asn1936Lys) | |
3 | g.38550507G= | CA1358555914 | SCN5A | c.5862C= (p.Asn1954=) c.5865C= (p.Asn1955=) c.5811C= (p.Asn1937=) c.5703C= (p.Asn1901=) c.5766C= (p.Asn1922=) c.5736C= (p.Asn1912=) c.5808C= (p.Asn1936=) | |
3 | g.38550507G>T | CA352139642 | SCN5A | c.5862C>A (p.Asn1954Lys) c.5865C>A (p.Asn1955Lys) c.5811C>A (p.Asn1937Lys) c.5703C>A (p.Asn1901Lys) c.5766C>A (p.Asn1922Lys) c.5736C>A (p.Asn1912Lys) c.5808C>A (p.Asn1936Lys) | gnomAD v4 |
3 | g.38550508T>A | CA352139649 | SCN5A | c.5861A>T (p.Asn1954Ile) c.5864A>T (p.Asn1955Ile) c.5810A>T (p.Asn1937Ile) c.5702A>T (p.Asn1901Ile) c.5765A>T (p.Asn1922Ile) c.5735A>T (p.Asn1912Ile) c.5807A>T (p.Asn1936Ile) | |
3 | g.38550508T>C | CA352139647 | SCN5A | c.5861A>G (p.Asn1954Ser) c.5864A>G (p.Asn1955Ser) c.5810A>G (p.Asn1937Ser) c.5702A>G (p.Asn1901Ser) c.5765A>G (p.Asn1922Ser) c.5735A>G (p.Asn1912Ser) c.5807A>G (p.Asn1936Ser) | gnomAD v4 |
3 | g.38550508T>G | CA352139648 | SCN5A | c.5861A>C (p.Asn1954Thr) c.5864A>C (p.Asn1955Thr) c.5810A>C (p.Asn1937Thr) c.5702A>C (p.Asn1901Thr) c.5765A>C (p.Asn1922Thr) c.5735A>C (p.Asn1912Thr) c.5807A>C (p.Asn1936Thr) | |
3 | g.38550509T>A | CA352139652 | SCN5A | c.5860A>T (p.Asn1954Tyr) c.5863A>T (p.Asn1955Tyr) c.5809A>T (p.Asn1937Tyr) c.5701A>T (p.Asn1901Tyr) c.5764A>T (p.Asn1922Tyr) c.5734A>T (p.Asn1912Tyr) c.5806A>T (p.Asn1936Tyr) | dbSNP gnomAD v2 |
3 | g.38550509T>C | CA352139654 | SCN5A | c.5860A>G (p.Asn1954Asp) c.5863A>G (p.Asn1955Asp) c.5809A>G (p.Asn1937Asp) c.5701A>G (p.Asn1901Asp) c.5764A>G (p.Asn1922Asp) c.5734A>G (p.Asn1912Asp) c.5806A>G (p.Asn1936Asp) | |
3 | g.38550509T>G | CA352139655 | SCN5A | c.5860A>C (p.Asn1954His) c.5863A>C (p.Asn1955His) c.5809A>C (p.Asn1937His) c.5701A>C (p.Asn1901His) c.5764A>C (p.Asn1922His) c.5734A>C (p.Asn1912His) c.5806A>C (p.Asn1936His) | |
3 | g.38550509T= | CA1358555917 | SCN5A | c.5860A= (p.Asn1954=) c.5863A= (p.Asn1955=) c.5809A= (p.Asn1937=) c.5701A= (p.Asn1901=) c.5764A= (p.Asn1922=) c.5734A= (p.Asn1912=) c.5806A= (p.Asn1936=) | |
3 | g.38550509_38550513delinsTCTCA | CA1358555916 | SCN5A | c.5856_5860delinsTGAGA (p.Ser1952=) c.5859_5863delinsTGAGA (p.Ser1953=) c.5805_5809delinsTGAGA (p.Ser1935=) c.5697_5701delinsTGAGA (p.Ser1899=) c.5760_5764delinsTGAGA (p.Ser1920=) c.5730_5734delinsTGAGA (p.Ser1910=) c.5802_5806delinsTGAGA (p.Ser1934=) | |
3 | g.38550510C>A | CA352139657 | SCN5A | c.5859G>T (p.Glu1953Asp) c.5862G>T (p.Glu1954Asp) c.5808G>T (p.Glu1936Asp) c.5700G>T (p.Glu1900Asp) c.5763G>T (p.Glu1921Asp) c.5733G>T (p.Glu1911Asp) c.5805G>T (p.Glu1935Asp) | ClinVar COSMIC COSMIC COSMIC |
3 | g.38550510C>G | CA352139659 | SCN5A | c.5859G>C (p.Glu1953Asp) c.5862G>C (p.Glu1954Asp) c.5808G>C (p.Glu1936Asp) c.5700G>C (p.Glu1900Asp) c.5763G>C (p.Glu1921Asp) c.5733G>C (p.Glu1911Asp) c.5805G>C (p.Glu1935Asp) | |
3 | g.38550510C>T | CA433331511 | SCN5A | c.5859G>A (p.Glu1953=) c.5862G>A (p.Glu1954=) c.5808G>A (p.Glu1936=) c.5700G>A (p.Glu1900=) c.5763G>A (p.Glu1921=) c.5733G>A (p.Glu1911=) c.5805G>A (p.Glu1935=) | gnomAD v4 |
3 | g.38550514_38550517del | CA064916 | SCN5A | c.5856_5859del (p.Ser1952ArgfsTer?) c.5859_5862del (p.Ser1953ArgfsTer?) c.5805_5808del (p.Ser1935ArgfsTer?) c.5697_5700del (p.Ser1899ArgfsTer?) c.5760_5763del (p.Ser1920ArgfsTer?) c.5730_5733del (p.Ser1910ArgfsTer?) c.5802_5805del (p.Ser1934ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550511T>A | CA352139662 | SCN5A | c.5858A>T (p.Glu1953Val) c.5861A>T (p.Glu1954Val) c.5807A>T (p.Glu1936Val) c.5699A>T (p.Glu1900Val) c.5762A>T (p.Glu1921Val) c.5732A>T (p.Glu1911Val) c.5804A>T (p.Glu1935Val) | |
3 | g.38550511T>C | CA352139664 | SCN5A | c.5858A>G (p.Glu1953Gly) c.5861A>G (p.Glu1954Gly) c.5807A>G (p.Glu1936Gly) c.5699A>G (p.Glu1900Gly) c.5762A>G (p.Glu1921Gly) c.5732A>G (p.Glu1911Gly) c.5804A>G (p.Glu1935Gly) | |
3 | g.38550511T>G | CA352139666 | SCN5A | c.5858A>C (p.Glu1953Ala) c.5861A>C (p.Glu1954Ala) c.5807A>C (p.Glu1936Ala) c.5699A>C (p.Glu1900Ala) c.5762A>C (p.Glu1921Ala) c.5732A>C (p.Glu1911Ala) c.5804A>C (p.Glu1935Ala) | |
3 | g.38550515_38550521del | CA2697550802 | SCN5A | c.5852_5858del (p.Met1951ArgfsTer?) c.5855_5861del (p.Met1952ArgfsTer?) c.5801_5807del (p.Met1934ArgfsTer?) c.5693_5699del (p.Met1898ArgfsTer?) c.5756_5762del (p.Met1919ArgfsTer?) c.5726_5732del (p.Met1909ArgfsTer?) c.5798_5804del (p.Met1933ArgfsTer?) | ClinVar |
3 | g.38550512C>A | CA352139667 | SCN5A | c.5857G>T (p.Glu1953Ter) c.5860G>T (p.Glu1954Ter) c.5806G>T (p.Glu1936Ter) c.5698G>T (p.Glu1900Ter) c.5761G>T (p.Glu1921Ter) c.5731G>T (p.Glu1911Ter) c.5803G>T (p.Glu1935Ter) | dbSNP gnomAD v4 |
3 | g.38550512C= | CA1358555921 | SCN5A | c.5857G= (p.Glu1953=) c.5860G= (p.Glu1954=) c.5806G= (p.Glu1936=) c.5698G= (p.Glu1900=) c.5761G= (p.Glu1921=) c.5731G= (p.Glu1911=) c.5803G= (p.Glu1935=) | |
3 | g.38550512C>G | CA352139668 | SCN5A | c.5857G>C (p.Glu1953Gln) c.5860G>C (p.Glu1954Gln) c.5806G>C (p.Glu1936Gln) c.5698G>C (p.Glu1900Gln) c.5761G>C (p.Glu1921Gln) c.5731G>C (p.Glu1911Gln) c.5803G>C (p.Glu1935Gln) | |
3 | g.38550512C>T | CA019513 | SCN5A | c.5857G>A (p.Glu1953Lys) c.5860G>A (p.Glu1954Lys) c.5806G>A (p.Glu1936Lys) c.5698G>A (p.Glu1900Lys) c.5761G>A (p.Glu1921Lys) c.5731G>A (p.Glu1911Lys) c.5803G>A (p.Glu1935Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550513A>C | CA352139670 | SCN5A | c.5856T>G (p.Ser1952Arg) c.5859T>G (p.Ser1953Arg) c.5805T>G (p.Ser1935Arg) c.5697T>G (p.Ser1899Arg) c.5760T>G (p.Ser1920Arg) c.5730T>G (p.Ser1910Arg) c.5802T>G (p.Ser1934Arg) | |
3 | g.38550513A>G | CA433331516 | SCN5A | c.5856T>C (p.Ser1952=) c.5859T>C (p.Ser1953=) c.5805T>C (p.Ser1935=) c.5697T>C (p.Ser1899=) c.5760T>C (p.Ser1920=) c.5730T>C (p.Ser1910=) c.5802T>C (p.Ser1934=) | |
3 | g.38550513A>T | CA352139672 | SCN5A | c.5856T>A (p.Ser1952Arg) c.5859T>A (p.Ser1953Arg) c.5805T>A (p.Ser1935Arg) c.5697T>A (p.Ser1899Arg) c.5760T>A (p.Ser1920Arg) c.5730T>A (p.Ser1910Arg) c.5802T>A (p.Ser1934Arg) | |
3 | g.38550514C>A | CA352139673 | SCN5A | c.5855G>T (p.Ser1952Ile) c.5858G>T (p.Ser1953Ile) c.5804G>T (p.Ser1935Ile) c.5696G>T (p.Ser1899Ile) c.5759G>T (p.Ser1920Ile) c.5729G>T (p.Ser1910Ile) c.5801G>T (p.Ser1934Ile) | |
3 | g.38550514C= | CA1358555926 | SCN5A | c.5855G= (p.Ser1952=) c.5858G= (p.Ser1953=) c.5804G= (p.Ser1935=) c.5696G= (p.Ser1899=) c.5759G= (p.Ser1920=) c.5729G= (p.Ser1910=) c.5801G= (p.Ser1934=) | |
3 | g.38550514C>G | CA352139674 | SCN5A | c.5855G>C (p.Ser1952Thr) c.5858G>C (p.Ser1953Thr) c.5804G>C (p.Ser1935Thr) c.5696G>C (p.Ser1899Thr) c.5759G>C (p.Ser1920Thr) c.5729G>C (p.Ser1910Thr) c.5801G>C (p.Ser1934Thr) | |
3 | g.38550514C>T | CA72937741 | SCN5A | c.5855G>A (p.Ser1952Asn) c.5858G>A (p.Ser1953Asn) c.5804G>A (p.Ser1935Asn) c.5696G>A (p.Ser1899Asn) c.5759G>A (p.Ser1920Asn) c.5729G>A (p.Ser1910Asn) c.5801G>A (p.Ser1934Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.38550515T>A | CA352139677 | SCN5A | c.5854A>T (p.Ser1952Cys) c.5857A>T (p.Ser1953Cys) c.5803A>T (p.Ser1935Cys) c.5695A>T (p.Ser1899Cys) c.5758A>T (p.Ser1920Cys) c.5728A>T (p.Ser1910Cys) c.5800A>T (p.Ser1934Cys) | |
3 | g.38550515T>C | CA352139679 | SCN5A | c.5854A>G (p.Ser1952Gly) c.5857A>G (p.Ser1953Gly) c.5803A>G (p.Ser1935Gly) c.5695A>G (p.Ser1899Gly) c.5758A>G (p.Ser1920Gly) c.5728A>G (p.Ser1910Gly) c.5800A>G (p.Ser1934Gly) | gnomAD v4 |
3 | g.38550515T>G | CA352139680 | SCN5A | c.5854A>C (p.Ser1952Arg) c.5857A>C (p.Ser1953Arg) c.5803A>C (p.Ser1935Arg) c.5695A>C (p.Ser1899Arg) c.5758A>C (p.Ser1920Arg) c.5728A>C (p.Ser1910Arg) c.5800A>C (p.Ser1934Arg) | |
3 | g.38550516C>A | CA352139683 | SCN5A | c.5853G>T (p.Met1951Ile) c.5856G>T (p.Met1952Ile) c.5802G>T (p.Met1934Ile) c.5694G>T (p.Met1898Ile) c.5757G>T (p.Met1919Ile) c.5727G>T (p.Met1909Ile) c.5799G>T (p.Met1933Ile) | gnomAD v4 |
3 | g.38550516C>G | CA352139685 | SCN5A | c.5853G>C (p.Met1951Ile) c.5856G>C (p.Met1952Ile) c.5802G>C (p.Met1934Ile) c.5694G>C (p.Met1898Ile) c.5757G>C (p.Met1919Ile) c.5727G>C (p.Met1909Ile) c.5799G>C (p.Met1933Ile) | |
3 | g.38550516C>T | CA352139687 | SCN5A | c.5853G>A (p.Met1951Ile) c.5856G>A (p.Met1952Ile) c.5802G>A (p.Met1934Ile) c.5694G>A (p.Met1898Ile) c.5757G>A (p.Met1919Ile) c.5727G>A (p.Met1909Ile) c.5799G>A (p.Met1933Ile) | gnomAD v4 |
3 | g.38550517A>C | CA352139689 | SCN5A | c.5852T>G (p.Met1951Arg) c.5855T>G (p.Met1952Arg) c.5801T>G (p.Met1934Arg) c.5693T>G (p.Met1898Arg) c.5756T>G (p.Met1919Arg) c.5726T>G (p.Met1909Arg) c.5798T>G (p.Met1933Arg) | |
3 | g.38550517A>G | CA352139690 | SCN5A | c.5852T>C (p.Met1951Thr) c.5855T>C (p.Met1952Thr) c.5801T>C (p.Met1934Thr) c.5693T>C (p.Met1898Thr) c.5756T>C (p.Met1919Thr) c.5726T>C (p.Met1909Thr) c.5798T>C (p.Met1933Thr) | gnomAD v4 |
3 | g.38550517A>T | CA352139692 | SCN5A | c.5852T>A (p.Met1951Lys) c.5855T>A (p.Met1952Lys) c.5801T>A (p.Met1934Lys) c.5693T>A (p.Met1898Lys) c.5756T>A (p.Met1919Lys) c.5726T>A (p.Met1909Lys) c.5798T>A (p.Met1933Lys) | |
3 | g.38550518T>A | CA352139698 | SCN5A | c.5851A>T (p.Met1951Leu) c.5854A>T (p.Met1952Leu) c.5800A>T (p.Met1934Leu) c.5692A>T (p.Met1898Leu) c.5755A>T (p.Met1919Leu) c.5725A>T (p.Met1909Leu) c.5797A>T (p.Met1933Leu) | |
3 | g.38550518T>C | CA352139696 | SCN5A | c.5851A>G (p.Met1951Val) c.5854A>G (p.Met1952Val) c.5800A>G (p.Met1934Val) c.5692A>G (p.Met1898Val) c.5755A>G (p.Met1919Val) c.5725A>G (p.Met1909Val) c.5797A>G (p.Met1933Val) | |
3 | g.38550518T>G | CA352139695 | SCN5A | c.5851A>C (p.Met1951Leu) c.5854A>C (p.Met1952Leu) c.5800A>C (p.Met1934Leu) c.5692A>C (p.Met1898Leu) c.5755A>C (p.Met1919Leu) c.5725A>C (p.Met1909Leu) c.5797A>C (p.Met1933Leu) | |
3 | g.38550519C>A | CA433331521 | SCN5A | c.5850G>T (p.Val1950=) c.5853G>T (p.Val1951=) c.5799G>T (p.Val1933=) c.5691G>T (p.Val1897=) c.5754G>T (p.Val1918=) c.5724G>T (p.Val1908=) c.5796G>T (p.Val1932=) | dbSNP |
3 | g.38550519C>G | CA433331522 | SCN5A | c.5850G>C (p.Val1950=) c.5853G>C (p.Val1951=) c.5799G>C (p.Val1933=) c.5691G>C (p.Val1897=) c.5754G>C (p.Val1918=) c.5724G>C (p.Val1908=) c.5796G>C (p.Val1932=) | |
3 | g.38550519C>T | CA433331523 | SCN5A | c.5850G>A (p.Val1950=) c.5853G>A (p.Val1951=) c.5799G>A (p.Val1933=) c.5691G>A (p.Val1897=) c.5754G>A (p.Val1918=) c.5724G>A (p.Val1908=) c.5796G>A (p.Val1932=) | |
3 | g.38550520A>C | CA352139699 | SCN5A | c.5849T>G (p.Val1950Gly) c.5852T>G (p.Val1951Gly) c.5798T>G (p.Val1933Gly) c.5690T>G (p.Val1897Gly) c.5753T>G (p.Val1918Gly) c.5723T>G (p.Val1908Gly) c.5795T>G (p.Val1932Gly) | |
3 | g.38550520A>G | CA352139701 | SCN5A | c.5849T>C (p.Val1950Ala) c.5852T>C (p.Val1951Ala) c.5798T>C (p.Val1933Ala) c.5690T>C (p.Val1897Ala) c.5753T>C (p.Val1918Ala) c.5723T>C (p.Val1908Ala) c.5795T>C (p.Val1932Ala) | ClinVar gnomAD v4 |
3 | g.38550520A>T | CA352139703 | SCN5A | c.5849T>A (p.Val1950Glu) c.5852T>A (p.Val1951Glu) c.5798T>A (p.Val1933Glu) c.5690T>A (p.Val1897Glu) c.5753T>A (p.Val1918Glu) c.5723T>A (p.Val1908Glu) c.5795T>A (p.Val1932Glu) | |
3 | g.38550521C>A | CA019509 | SCN5A | c.5848G>T (p.Val1950Leu) c.5851G>T (p.Val1951Leu) c.5797G>T (p.Val1933Leu) c.5689G>T (p.Val1897Leu) c.5752G>T (p.Val1918Leu) c.5722G>T (p.Val1908Leu) c.5794G>T (p.Val1932Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550521C= | CA1358555934 | SCN5A | c.5848G= (p.Val1950=) c.5851G= (p.Val1951=) c.5797G= (p.Val1933=) c.5689G= (p.Val1897=) c.5752G= (p.Val1918=) c.5722G= (p.Val1908=) c.5794G= (p.Val1932=) | |
3 | g.38550521C>G | CA352139705 | SCN5A | c.5848G>C (p.Val1950Leu) c.5851G>C (p.Val1951Leu) c.5797G>C (p.Val1933Leu) c.5689G>C (p.Val1897Leu) c.5752G>C (p.Val1918Leu) c.5722G>C (p.Val1908Leu) c.5794G>C (p.Val1932Leu) | dbSNP gnomAD v4 |
3 | g.38550521C>T | CA019505 | SCN5A | c.5848G>A (p.Val1950Met) c.5851G>A (p.Val1951Met) c.5797G>A (p.Val1933Met) c.5689G>A (p.Val1897Met) c.5752G>A (p.Val1918Met) c.5722G>A (p.Val1908Met) c.5794G>A (p.Val1932Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550522G>A | CA064901 | SCN5A | c.5847C>T (p.Tyr1949=) c.5850C>T (p.Tyr1950=) c.5796C>T (p.Tyr1932=) c.5688C>T (p.Tyr1896=) c.5751C>T (p.Tyr1917=) c.5721C>T (p.Tyr1907=) c.5793C>T (p.Tyr1931=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550522G>C | CA352139710 | SCN5A | c.5847C>G (p.Tyr1949Ter) c.5850C>G (p.Tyr1950Ter) c.5796C>G (p.Tyr1932Ter) c.5688C>G (p.Tyr1896Ter) c.5751C>G (p.Tyr1917Ter) c.5721C>G (p.Tyr1907Ter) c.5793C>G (p.Tyr1931Ter) | |
3 | g.38550522G= | CA1358555949 | SCN5A | c.5847C= (p.Tyr1949=) c.5850C= (p.Tyr1950=) c.5796C= (p.Tyr1932=) c.5688C= (p.Tyr1896=) c.5751C= (p.Tyr1917=) c.5721C= (p.Tyr1907=) c.5793C= (p.Tyr1931=) | |
3 | g.38550522G>T | CA352139708 | SCN5A | c.5847C>A (p.Tyr1949Ter) c.5850C>A (p.Tyr1950Ter) c.5796C>A (p.Tyr1932Ter) c.5688C>A (p.Tyr1896Ter) c.5751C>A (p.Tyr1917Ter) c.5721C>A (p.Tyr1907Ter) c.5793C>A (p.Tyr1931Ter) | ClinVar |
3 | g.38550522_38550524delinsGTA | CA1358555953 | SCN5A | c.5845_5847delinsTAC (p.Tyr1949=) c.5848_5850delinsTAC (p.Tyr1950=) c.5794_5796delinsTAC (p.Tyr1932=) c.5686_5688delinsTAC (p.Tyr1896=) c.5749_5751delinsTAC (p.Tyr1917=) c.5719_5721delinsTAC (p.Tyr1907=) c.5791_5793delinsTAC (p.Tyr1931=) | |
3 | g.38550522_38550524delinsTTG | CA16611272 | SCN5A | c.5845_5847delinsCAA (p.Tyr1949Gln) c.5848_5850delinsCAA (p.Tyr1950Gln) c.5794_5796delinsCAA (p.Tyr1932Gln) c.5686_5688delinsCAA (p.Tyr1896Gln) c.5749_5751delinsCAA (p.Tyr1917Gln) c.5719_5721delinsCAA (p.Tyr1907Gln) c.5791_5793delinsCAA (p.Tyr1931Gln) | ClinVar dbSNP |
3 | g.38550523T>A | CA352139713 | SCN5A | c.5846A>T (p.Tyr1949Phe) c.5849A>T (p.Tyr1950Phe) c.5795A>T (p.Tyr1932Phe) c.5687A>T (p.Tyr1896Phe) c.5750A>T (p.Tyr1917Phe) c.5720A>T (p.Tyr1907Phe) c.5792A>T (p.Tyr1931Phe) | |
3 | g.38550523T>C | CA335923 | SCN5A | c.5846A>G (p.Tyr1949Cys) c.5849A>G (p.Tyr1950Cys) c.5795A>G (p.Tyr1932Cys) c.5687A>G (p.Tyr1896Cys) c.5750A>G (p.Tyr1917Cys) c.5720A>G (p.Tyr1907Cys) c.5792A>G (p.Tyr1931Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550523T>G | CA352139715 | SCN5A | c.5846A>C (p.Tyr1949Ser) c.5849A>C (p.Tyr1950Ser) c.5795A>C (p.Tyr1932Ser) c.5687A>C (p.Tyr1896Ser) c.5750A>C (p.Tyr1917Ser) c.5720A>C (p.Tyr1907Ser) c.5792A>C (p.Tyr1931Ser) | |
3 | g.38550523T= | CA1358555957 | SCN5A | c.5846A= (p.Tyr1949=) c.5849A= (p.Tyr1950=) c.5795A= (p.Tyr1932=) c.5687A= (p.Tyr1896=) c.5750A= (p.Tyr1917=) c.5720A= (p.Tyr1907=) c.5792A= (p.Tyr1931=) | |
3 | g.38550524A>C | CA352139716 | SCN5A | c.5845T>G (p.Tyr1949Asp) c.5848T>G (p.Tyr1950Asp) c.5794T>G (p.Tyr1932Asp) c.5686T>G (p.Tyr1896Asp) c.5749T>G (p.Tyr1917Asp) c.5719T>G (p.Tyr1907Asp) c.5791T>G (p.Tyr1931Asp) | |
3 | g.38550524A>G | CA352139717 | SCN5A | c.5845T>C (p.Tyr1949His) c.5848T>C (p.Tyr1950His) c.5794T>C (p.Tyr1932His) c.5686T>C (p.Tyr1896His) c.5749T>C (p.Tyr1917His) c.5719T>C (p.Tyr1907His) c.5791T>C (p.Tyr1931His) | gnomAD v4 |
3 | g.38550524A>T | CA352139719 | SCN5A | c.5845T>A (p.Tyr1949Asn) c.5848T>A (p.Tyr1950Asn) c.5794T>A (p.Tyr1932Asn) c.5686T>A (p.Tyr1896Asn) c.5749T>A (p.Tyr1917Asn) c.5719T>A (p.Tyr1907Asn) c.5791T>A (p.Tyr1931Asn) | |
3 | g.38550525G>A | CA433331532 | SCN5A | c.5844C>T (p.Ala1948=) c.5847C>T (p.Ala1949=) c.5793C>T (p.Ala1931=) c.5685C>T (p.Ala1895=) c.5748C>T (p.Ala1916=) c.5718C>T (p.Ala1906=) c.5790C>T (p.Ala1930=) | gnomAD v4 |
3 | g.38550525G>C | CA433331534 | SCN5A | c.5844C>G (p.Ala1948=) c.5847C>G (p.Ala1949=) c.5793C>G (p.Ala1931=) c.5685C>G (p.Ala1895=) c.5748C>G (p.Ala1916=) c.5718C>G (p.Ala1906=) c.5790C>G (p.Ala1930=) | |
3 | g.38550525G>T | CA433331536 | SCN5A | c.5844C>A (p.Ala1948=) c.5847C>A (p.Ala1949=) c.5793C>A (p.Ala1931=) c.5685C>A (p.Ala1895=) c.5748C>A (p.Ala1916=) c.5718C>A (p.Ala1906=) c.5790C>A (p.Ala1930=) | |
3 | g.38550526G>A | CA352139720 | SCN5A | c.5843C>T (p.Ala1948Val) c.5846C>T (p.Ala1949Val) c.5792C>T (p.Ala1931Val) c.5684C>T (p.Ala1895Val) c.5747C>T (p.Ala1916Val) c.5717C>T (p.Ala1906Val) c.5789C>T (p.Ala1930Val) | |
3 | g.38550526G>C | CA352139724 | SCN5A | c.5843C>G (p.Ala1948Gly) c.5846C>G (p.Ala1949Gly) c.5792C>G (p.Ala1931Gly) c.5684C>G (p.Ala1895Gly) c.5747C>G (p.Ala1916Gly) c.5717C>G (p.Ala1906Gly) c.5789C>G (p.Ala1930Gly) | |
3 | g.38550526G>T | CA352139722 | SCN5A | c.5843C>A (p.Ala1948Asp) c.5846C>A (p.Ala1949Asp) c.5792C>A (p.Ala1931Asp) c.5684C>A (p.Ala1895Asp) c.5747C>A (p.Ala1916Asp) c.5717C>A (p.Ala1906Asp) c.5789C>A (p.Ala1930Asp) | |
3 | g.38550527C>A | CA019500 | SCN5A | c.5842G>T (p.Ala1948Ser) c.5845G>T (p.Ala1949Ser) c.5791G>T (p.Ala1931Ser) c.5683G>T (p.Ala1895Ser) c.5746G>T (p.Ala1916Ser) c.5716G>T (p.Ala1906Ser) c.5788G>T (p.Ala1930Ser) | ClinVar dbSNP |
3 | g.38550527C= | CA1358555967 | SCN5A | c.5842G= (p.Ala1948=) c.5845G= (p.Ala1949=) c.5791G= (p.Ala1931=) c.5683G= (p.Ala1895=) c.5746G= (p.Ala1916=) c.5716G= (p.Ala1906=) c.5788G= (p.Ala1930=) | |
3 | g.38550527C>G | CA352139727 | SCN5A | c.5842G>C (p.Ala1948Pro) c.5845G>C (p.Ala1949Pro) c.5791G>C (p.Ala1931Pro) c.5683G>C (p.Ala1895Pro) c.5746G>C (p.Ala1916Pro) c.5716G>C (p.Ala1906Pro) c.5788G>C (p.Ala1930Pro) | |
3 | g.38550527C>T | CA019498 | SCN5A | c.5842G>A (p.Ala1948Thr) c.5845G>A (p.Ala1949Thr) c.5791G>A (p.Ala1931Thr) c.5683G>A (p.Ala1895Thr) c.5746G>A (p.Ala1916Thr) c.5716G>A (p.Ala1906Thr) c.5788G>A (p.Ala1930Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550527dup | CA2840077961 | SCN5A | c.5842dup (p.Ala1948GlyfsTer6) c.5845dup (p.Ala1949GlyfsTer6) c.5791dup (p.Ala1931GlyfsTer6) c.5683dup (p.Ala1895GlyfsTer6) c.5746dup (p.Ala1916GlyfsTer6) c.5716dup (p.Ala1906GlyfsTer6) c.5788dup (p.Ala1930GlyfsTer6) | |
3 | g.38550528G>A | CA019494 | SCN5A | c.5841C>T (p.Ile1947=) c.5844C>T (p.Ile1948=) c.5790C>T (p.Ile1930=) c.5682C>T (p.Ile1894=) c.5745C>T (p.Ile1915=) c.5715C>T (p.Ile1905=) c.5787C>T (p.Ile1929=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550528G>C | CA352139731 | SCN5A | c.5841C>G (p.Ile1947Met) c.5844C>G (p.Ile1948Met) c.5790C>G (p.Ile1930Met) c.5682C>G (p.Ile1894Met) c.5745C>G (p.Ile1915Met) c.5715C>G (p.Ile1905Met) c.5787C>G (p.Ile1929Met) | |
3 | g.38550528G= | CA1358555974 | SCN5A | c.5841C= (p.Ile1947=) c.5844C= (p.Ile1948=) c.5790C= (p.Ile1930=) c.5682C= (p.Ile1894=) c.5745C= (p.Ile1915=) c.5715C= (p.Ile1905=) c.5787C= (p.Ile1929=) | |
3 | g.38550528G>T | CA433331540 | SCN5A | c.5841C>A (p.Ile1947=) c.5844C>A (p.Ile1948=) c.5790C>A (p.Ile1930=) c.5682C>A (p.Ile1894=) c.5745C>A (p.Ile1915=) c.5715C>A (p.Ile1905=) c.5787C>A (p.Ile1929=) | |
3 | g.38550529A>C | CA352139733 | SCN5A | c.5840T>G (p.Ile1947Ser) c.5843T>G (p.Ile1948Ser) c.5789T>G (p.Ile1930Ser) c.5681T>G (p.Ile1894Ser) c.5744T>G (p.Ile1915Ser) c.5714T>G (p.Ile1905Ser) c.5786T>G (p.Ile1929Ser) | |
3 | g.38550529A>G | CA352139735 | SCN5A | c.5840T>C (p.Ile1947Thr) c.5843T>C (p.Ile1948Thr) c.5789T>C (p.Ile1930Thr) c.5681T>C (p.Ile1894Thr) c.5744T>C (p.Ile1915Thr) c.5714T>C (p.Ile1905Thr) c.5786T>C (p.Ile1929Thr) | ClinVar |
3 | g.38550529A>T | CA352139736 | SCN5A | c.5840T>A (p.Ile1947Asn) c.5843T>A (p.Ile1948Asn) c.5789T>A (p.Ile1930Asn) c.5681T>A (p.Ile1894Asn) c.5744T>A (p.Ile1915Asn) c.5714T>A (p.Ile1905Asn) c.5786T>A (p.Ile1929Asn) | |
3 | g.38550530T>A | CA352139738 | SCN5A | c.5839A>T (p.Ile1947Phe) c.5842A>T (p.Ile1948Phe) c.5788A>T (p.Ile1930Phe) c.5680A>T (p.Ile1894Phe) c.5743A>T (p.Ile1915Phe) c.5713A>T (p.Ile1905Phe) c.5785A>T (p.Ile1929Phe) | |
3 | g.38550530T>C | CA064887 | SCN5A | c.5839A>G (p.Ile1947Val) c.5842A>G (p.Ile1948Val) c.5788A>G (p.Ile1930Val) c.5680A>G (p.Ile1894Val) c.5743A>G (p.Ile1915Val) c.5713A>G (p.Ile1905Val) c.5785A>G (p.Ile1929Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550530T>G | CA352139747 | SCN5A | c.5839A>C (p.Ile1947Leu) c.5842A>C (p.Ile1948Leu) c.5788A>C (p.Ile1930Leu) c.5680A>C (p.Ile1894Leu) c.5743A>C (p.Ile1915Leu) c.5713A>C (p.Ile1905Leu) c.5785A>C (p.Ile1929Leu) | |
3 | g.38550530T= | CA1358555980 | SCN5A | c.5839A= (p.Ile1947=) c.5842A= (p.Ile1948=) c.5788A= (p.Ile1930=) c.5680A= (p.Ile1894=) c.5743A= (p.Ile1915=) c.5713A= (p.Ile1905=) c.5785A= (p.Ile1929=) | |
3 | g.38550531G>A | CA433331542 | SCN5A | c.5838C>T (p.Leu1946=) c.5841C>T (p.Leu1947=) c.5787C>T (p.Leu1929=) c.5679C>T (p.Leu1893=) c.5742C>T (p.Leu1914=) c.5712C>T (p.Leu1904=) c.5784C>T (p.Leu1928=) | |
3 | g.38550531G>C | CA433331544 | SCN5A | c.5838C>G (p.Leu1946=) c.5841C>G (p.Leu1947=) c.5787C>G (p.Leu1929=) c.5679C>G (p.Leu1893=) c.5742C>G (p.Leu1914=) c.5712C>G (p.Leu1904=) c.5784C>G (p.Leu1928=) | |
3 | g.38550531G>T | CA433331546 | SCN5A | c.5838C>A (p.Leu1946=) c.5841C>A (p.Leu1947=) c.5787C>A (p.Leu1929=) c.5679C>A (p.Leu1893=) c.5742C>A (p.Leu1914=) c.5712C>A (p.Leu1904=) c.5784C>A (p.Leu1928=) | |
3 | g.38550532A>C | CA352139753 | SCN5A | c.5837T>G (p.Leu1946Arg) c.5840T>G (p.Leu1947Arg) c.5786T>G (p.Leu1929Arg) c.5678T>G (p.Leu1893Arg) c.5741T>G (p.Leu1914Arg) c.5711T>G (p.Leu1904Arg) c.5783T>G (p.Leu1928Arg) | |
3 | g.38550532A>G | CA352139751 | SCN5A | c.5837T>C (p.Leu1946Pro) c.5840T>C (p.Leu1947Pro) c.5786T>C (p.Leu1929Pro) c.5678T>C (p.Leu1893Pro) c.5741T>C (p.Leu1914Pro) c.5711T>C (p.Leu1904Pro) c.5783T>C (p.Leu1928Pro) | gnomAD v4 |
3 | g.38550532A>T | CA352139749 | SCN5A | c.5837T>A (p.Leu1946His) c.5840T>A (p.Leu1947His) c.5786T>A (p.Leu1929His) c.5678T>A (p.Leu1893His) c.5741T>A (p.Leu1914His) c.5711T>A (p.Leu1904His) c.5783T>A (p.Leu1928His) | |
3 | g.38550533G>A | CA352139756 | SCN5A | c.5836C>T (p.Leu1946Phe) c.5839C>T (p.Leu1947Phe) c.5785C>T (p.Leu1929Phe) c.5677C>T (p.Leu1893Phe) c.5740C>T (p.Leu1914Phe) c.5710C>T (p.Leu1904Phe) c.5782C>T (p.Leu1928Phe) | ClinVar dbSNP |
3 | g.38550533G>C | CA352139759 | SCN5A | c.5836C>G (p.Leu1946Val) c.5839C>G (p.Leu1947Val) c.5785C>G (p.Leu1929Val) c.5677C>G (p.Leu1893Val) c.5740C>G (p.Leu1914Val) c.5710C>G (p.Leu1904Val) c.5782C>G (p.Leu1928Val) | |
3 | g.38550533G= | CA1358555983 | SCN5A | c.5836C= (p.Leu1946=) c.5839C= (p.Leu1947=) c.5785C= (p.Leu1929=) c.5677C= (p.Leu1893=) c.5740C= (p.Leu1914=) c.5710C= (p.Leu1904=) c.5782C= (p.Leu1928=) | |
3 | g.38550533G>T | CA352139757 | SCN5A | c.5836C>A (p.Leu1946Ile) c.5839C>A (p.Leu1947Ile) c.5785C>A (p.Leu1929Ile) c.5677C>A (p.Leu1893Ile) c.5740C>A (p.Leu1914Ile) c.5710C>A (p.Leu1904Ile) c.5782C>A (p.Leu1928Ile) | |
3 | g.38550534G>A | CA433331684 | SCN5A | c.5835C>T (p.Gly1945=) c.5838C>T (p.Gly1946=) c.5784C>T (p.Gly1928=) c.5676C>T (p.Gly1892=) c.5739C>T (p.Gly1913=) c.5709C>T (p.Gly1903=) c.5781C>T (p.Gly1927=) | gnomAD v4 |
3 | g.38550534G>C | CA433331685 | SCN5A | c.5835C>G (p.Gly1945=) c.5838C>G (p.Gly1946=) c.5784C>G (p.Gly1928=) c.5676C>G (p.Gly1892=) c.5739C>G (p.Gly1913=) c.5709C>G (p.Gly1903=) c.5781C>G (p.Gly1927=) | |
3 | g.38550534G= | CA1358555987 | SCN5A | c.5835C= (p.Gly1945=) c.5838C= (p.Gly1946=) c.5784C= (p.Gly1928=) c.5676C= (p.Gly1892=) c.5739C= (p.Gly1913=) c.5709C= (p.Gly1903=) c.5781C= (p.Gly1927=) | |
3 | g.38550534G>T | CA064882 | SCN5A | c.5835C>A (p.Gly1945=) c.5838C>A (p.Gly1946=) c.5784C>A (p.Gly1928=) c.5676C>A (p.Gly1892=) c.5739C>A (p.Gly1913=) c.5709C>A (p.Gly1903=) c.5781C>A (p.Gly1927=) | dbSNP ExAC gnomAD v2 |
3 | g.38550535C>A | CA352139764 | SCN5A | c.5834G>T (p.Gly1945Val) c.5837G>T (p.Gly1946Val) c.5783G>T (p.Gly1928Val) c.5675G>T (p.Gly1892Val) c.5738G>T (p.Gly1913Val) c.5708G>T (p.Gly1903Val) c.5780G>T (p.Gly1927Val) | ClinVar |
3 | g.38550535C= | CA1358555991 | SCN5A | c.5834G= (p.Gly1945=) c.5837G= (p.Gly1946=) c.5783G= (p.Gly1928=) c.5675G= (p.Gly1892=) c.5738G= (p.Gly1913=) c.5708G= (p.Gly1903=) c.5780G= (p.Gly1927=) | |
3 | g.38550535C>G | CA352139762 | SCN5A | c.5834G>C (p.Gly1945Ala) c.5837G>C (p.Gly1946Ala) c.5783G>C (p.Gly1928Ala) c.5675G>C (p.Gly1892Ala) c.5738G>C (p.Gly1913Ala) c.5708G>C (p.Gly1903Ala) c.5780G>C (p.Gly1927Ala) | gnomAD v4 |
3 | g.38550535C>T | CA352139766 | SCN5A | c.5834G>A (p.Gly1945Asp) c.5837G>A (p.Gly1946Asp) c.5783G>A (p.Gly1928Asp) c.5675G>A (p.Gly1892Asp) c.5738G>A (p.Gly1913Asp) c.5708G>A (p.Gly1903Asp) c.5780G>A (p.Gly1927Asp) | dbSNP gnomAD v4 |
3 | g.38550536C>A | CA352139768 | SCN5A | c.5833G>T (p.Gly1945Cys) c.5836G>T (p.Gly1946Cys) c.5782G>T (p.Gly1928Cys) c.5674G>T (p.Gly1892Cys) c.5737G>T (p.Gly1913Cys) c.5707G>T (p.Gly1903Cys) c.5779G>T (p.Gly1927Cys) | |
3 | g.38550536C>G | CA352139769 | SCN5A | c.5833G>C (p.Gly1945Arg) c.5836G>C (p.Gly1946Arg) c.5782G>C (p.Gly1928Arg) c.5674G>C (p.Gly1892Arg) c.5737G>C (p.Gly1913Arg) c.5707G>C (p.Gly1903Arg) c.5779G>C (p.Gly1927Arg) | |
3 | g.38550536C>T | CA352139770 | SCN5A | c.5833G>A (p.Gly1945Ser) c.5836G>A (p.Gly1946Ser) c.5782G>A (p.Gly1928Ser) c.5674G>A (p.Gly1892Ser) c.5737G>A (p.Gly1913Ser) c.5707G>A (p.Gly1903Ser) c.5779G>A (p.Gly1927Ser) | |
3 | g.38550537C>A | CA352139771 | SCN5A | c.5832G>T (p.Glu1944Asp) c.5835G>T (p.Glu1945Asp) c.5781G>T (p.Glu1927Asp) c.5673G>T (p.Glu1891Asp) c.5736G>T (p.Glu1912Asp) c.5706G>T (p.Glu1902Asp) c.5778G>T (p.Glu1926Asp) | |
3 | g.38550537C>G | CA352139772 | SCN5A | c.5832G>C (p.Glu1944Asp) c.5835G>C (p.Glu1945Asp) c.5781G>C (p.Glu1927Asp) c.5673G>C (p.Glu1891Asp) c.5736G>C (p.Glu1912Asp) c.5706G>C (p.Glu1902Asp) c.5778G>C (p.Glu1926Asp) | ClinVar |
3 | g.38550537C>T | CA433331693 | SCN5A | c.5832G>A (p.Glu1944=) c.5835G>A (p.Glu1945=) c.5781G>A (p.Glu1927=) c.5673G>A (p.Glu1891=) c.5736G>A (p.Glu1912=) c.5706G>A (p.Glu1902=) c.5778G>A (p.Glu1926=) | |
3 | g.38550538T>A | CA352139774 | SCN5A | c.5831A>T (p.Glu1944Val) c.5834A>T (p.Glu1945Val) c.5780A>T (p.Glu1927Val) c.5672A>T (p.Glu1891Val) c.5735A>T (p.Glu1912Val) c.5705A>T (p.Glu1902Val) c.5777A>T (p.Glu1926Val) | gnomAD v4 |
3 | g.38550538T>C | CA352139776 | SCN5A | c.5831A>G (p.Glu1944Gly) c.5834A>G (p.Glu1945Gly) c.5780A>G (p.Glu1927Gly) c.5672A>G (p.Glu1891Gly) c.5735A>G (p.Glu1912Gly) c.5705A>G (p.Glu1902Gly) c.5777A>G (p.Glu1926Gly) | |
3 | g.38550538T>G | CA352139777 | SCN5A | c.5831A>C (p.Glu1944Ala) c.5834A>C (p.Glu1945Ala) c.5780A>C (p.Glu1927Ala) c.5672A>C (p.Glu1891Ala) c.5735A>C (p.Glu1912Ala) c.5705A>C (p.Glu1902Ala) c.5777A>C (p.Glu1926Ala) | |
3 | g.38550538_38550542delinsTCTCG | CA1358555993 | SCN5A | c.5827_5831delinsCGAGA (p.Arg1943=) c.5830_5834delinsCGAGA (p.Arg1944=) c.5776_5780delinsCGAGA (p.Arg1926=) c.5668_5672delinsCGAGA (p.Arg1890=) c.5731_5735delinsCGAGA (p.Arg1911=) c.5701_5705delinsCGAGA (p.Arg1901=) c.5773_5777delinsCGAGA (p.Arg1925=) | |
3 | g.38550539C>A | CA352139778 | SCN5A | c.5830G>T (p.Glu1944Ter) c.5833G>T (p.Glu1945Ter) c.5779G>T (p.Glu1927Ter) c.5671G>T (p.Glu1891Ter) c.5734G>T (p.Glu1912Ter) c.5704G>T (p.Glu1902Ter) c.5776G>T (p.Glu1926Ter) | |
3 | g.38550539C>G | CA352139780 | SCN5A | c.5830G>C (p.Glu1944Gln) c.5833G>C (p.Glu1945Gln) c.5779G>C (p.Glu1927Gln) c.5671G>C (p.Glu1891Gln) c.5734G>C (p.Glu1912Gln) c.5704G>C (p.Glu1902Gln) c.5776G>C (p.Glu1926Gln) | |
3 | g.38550539C>T | CA352139782 | SCN5A | c.5830G>A (p.Glu1944Lys) c.5833G>A (p.Glu1945Lys) c.5779G>A (p.Glu1927Lys) c.5671G>A (p.Glu1891Lys) c.5734G>A (p.Glu1912Lys) c.5704G>A (p.Glu1902Lys) c.5776G>A (p.Glu1926Lys) | |
3 | g.38550542_38550545del | CA1139657956 | SCN5A | c.5827_5830del (p.Glu1944AlafsTer6) c.5830_5833del (p.Glu1945AlafsTer6) c.5776_5779del (p.Glu1927AlafsTer6) c.5668_5671del (p.Glu1891AlafsTer6) c.5731_5734del (p.Glu1912AlafsTer6) c.5701_5704del (p.Glu1902AlafsTer6) c.5773_5776del (p.Glu1926AlafsTer6) | ClinVar dbSNP gnomAD v4 |
3 | g.38550540T>A | CA433331698 | SCN5A | c.5829A>T (p.Arg1943=) c.5832A>T (p.Arg1944=) c.5778A>T (p.Arg1926=) c.5670A>T (p.Arg1890=) c.5733A>T (p.Arg1911=) c.5703A>T (p.Arg1901=) c.5775A>T (p.Arg1925=) | |
3 | g.38550540T>C | CA433331699 | SCN5A | c.5829A>G (p.Arg1943=) c.5832A>G (p.Arg1944=) c.5778A>G (p.Arg1926=) c.5670A>G (p.Arg1890=) c.5733A>G (p.Arg1911=) c.5703A>G (p.Arg1901=) c.5775A>G (p.Arg1925=) | |
3 | g.38550540T>G | CA433331701 | SCN5A | c.5829A>C (p.Arg1943=) c.5832A>C (p.Arg1944=) c.5778A>C (p.Arg1926=) c.5670A>C (p.Arg1890=) c.5733A>C (p.Arg1911=) c.5703A>C (p.Arg1901=) c.5775A>C (p.Arg1925=) | |
3 | g.38550541C>A | CA352139786 | SCN5A | c.5828G>T (p.Arg1943Leu) c.5831G>T (p.Arg1944Leu) c.5777G>T (p.Arg1926Leu) c.5669G>T (p.Arg1890Leu) c.5732G>T (p.Arg1911Leu) c.5702G>T (p.Arg1901Leu) c.5774G>T (p.Arg1925Leu) | |
3 | g.38550541C= | CA1358555999 | SCN5A | c.5828G= (p.Arg1943=) c.5831G= (p.Arg1944=) c.5777G= (p.Arg1926=) c.5669G= (p.Arg1890=) c.5732G= (p.Arg1911=) c.5702G= (p.Arg1901=) c.5774G= (p.Arg1925=) | |
3 | g.38550541C>G | CA352139783 | SCN5A | c.5828G>C (p.Arg1943Pro) c.5831G>C (p.Arg1944Pro) c.5777G>C (p.Arg1926Pro) c.5669G>C (p.Arg1890Pro) c.5732G>C (p.Arg1911Pro) c.5702G>C (p.Arg1901Pro) c.5774G>C (p.Arg1925Pro) | gnomAD v4 |
3 | g.38550541C>T | CA064872 | SCN5A | c.5828G>A (p.Arg1943Gln) c.5831G>A (p.Arg1944Gln) c.5777G>A (p.Arg1926Gln) c.5669G>A (p.Arg1890Gln) c.5732G>A (p.Arg1911Gln) c.5702G>A (p.Arg1901Gln) c.5774G>A (p.Arg1925Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550542G>A | CA019491 | SCN5A | c.5827C>T (p.Arg1943Ter) c.5830C>T (p.Arg1944Ter) c.5776C>T (p.Arg1926Ter) c.5668C>T (p.Arg1890Ter) c.5731C>T (p.Arg1911Ter) c.5701C>T (p.Arg1901Ter) c.5773C>T (p.Arg1925Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550542G>C | CA352139788 | SCN5A | c.5827C>G (p.Arg1943Gly) c.5830C>G (p.Arg1944Gly) c.5776C>G (p.Arg1926Gly) c.5668C>G (p.Arg1890Gly) c.5731C>G (p.Arg1911Gly) c.5701C>G (p.Arg1901Gly) c.5773C>G (p.Arg1925Gly) | |
3 | g.38550542G= | CA1358556005 | SCN5A | c.5827C= (p.Arg1943=) c.5830C= (p.Arg1944=) c.5776C= (p.Arg1926=) c.5668C= (p.Arg1890=) c.5731C= (p.Arg1911=) c.5701C= (p.Arg1901=) c.5773C= (p.Arg1925=) | |
3 | g.38550542G>T | CA433331706 | SCN5A | c.5827C>A (p.Arg1943=) c.5830C>A (p.Arg1944=) c.5776C>A (p.Arg1926=) c.5668C>A (p.Arg1890=) c.5731C>A (p.Arg1911=) c.5701C>A (p.Arg1901=) c.5773C>A (p.Arg1925=) | |
3 | g.38550543C>A | CA352139790 | SCN5A | c.5826G>T (p.Glu1942Asp) c.5829G>T (p.Glu1943Asp) c.5775G>T (p.Glu1925Asp) c.5667G>T (p.Glu1889Asp) c.5730G>T (p.Glu1910Asp) c.5700G>T (p.Glu1900Asp) c.5772G>T (p.Glu1924Asp) | |
3 | g.38550543C>G | CA352139792 | SCN5A | c.5826G>C (p.Glu1942Asp) c.5829G>C (p.Glu1943Asp) c.5775G>C (p.Glu1925Asp) c.5667G>C (p.Glu1889Asp) c.5730G>C (p.Glu1910Asp) c.5700G>C (p.Glu1900Asp) c.5772G>C (p.Glu1924Asp) | |
3 | g.38550543C>T | CA433331709 | SCN5A | c.5826G>A (p.Glu1942=) c.5829G>A (p.Glu1943=) c.5775G>A (p.Glu1925=) c.5667G>A (p.Glu1889=) c.5730G>A (p.Glu1910=) c.5700G>A (p.Glu1900=) c.5772G>A (p.Glu1924=) | |
3 | g.38550544T>A | CA352139794 | SCN5A | c.5825A>T (p.Glu1942Val) c.5828A>T (p.Glu1943Val) c.5774A>T (p.Glu1925Val) c.5666A>T (p.Glu1889Val) c.5729A>T (p.Glu1910Val) c.5699A>T (p.Glu1900Val) c.5771A>T (p.Glu1924Val) | |
3 | g.38550544T>C | CA352139796 | SCN5A | c.5825A>G (p.Glu1942Gly) c.5828A>G (p.Glu1943Gly) c.5774A>G (p.Glu1925Gly) c.5666A>G (p.Glu1889Gly) c.5729A>G (p.Glu1910Gly) c.5699A>G (p.Glu1900Gly) c.5771A>G (p.Glu1924Gly) | ClinVar dbSNP |
3 | g.38550544T>G | CA352139798 | SCN5A | c.5825A>C (p.Glu1942Ala) c.5828A>C (p.Glu1943Ala) c.5774A>C (p.Glu1925Ala) c.5666A>C (p.Glu1889Ala) c.5729A>C (p.Glu1910Ala) c.5699A>C (p.Glu1900Ala) c.5771A>C (p.Glu1924Ala) | |
3 | g.38550544T= | CA1358556012 | SCN5A | c.5825A= (p.Glu1942=) c.5828A= (p.Glu1943=) c.5774A= (p.Glu1925=) c.5666A= (p.Glu1889=) c.5729A= (p.Glu1910=) c.5699A= (p.Glu1900=) c.5771A= (p.Glu1924=) | |
3 | g.38550545C>A | CA352139800 | SCN5A | c.5824G>T (p.Glu1942Ter) c.5827G>T (p.Glu1943Ter) c.5773G>T (p.Glu1925Ter) c.5665G>T (p.Glu1889Ter) c.5728G>T (p.Glu1910Ter) c.5698G>T (p.Glu1900Ter) c.5770G>T (p.Glu1924Ter) | dbSNP |
3 | g.38550545C= | CA1358556014 | SCN5A | c.5824G= (p.Glu1942=) c.5827G= (p.Glu1943=) c.5773G= (p.Glu1925=) c.5665G= (p.Glu1889=) c.5728G= (p.Glu1910=) c.5698G= (p.Glu1900=) c.5770G= (p.Glu1924=) | |
3 | g.38550545C>G | CA352139802 | SCN5A | c.5824G>C (p.Glu1942Gln) c.5827G>C (p.Glu1943Gln) c.5773G>C (p.Glu1925Gln) c.5665G>C (p.Glu1889Gln) c.5728G>C (p.Glu1910Gln) c.5698G>C (p.Glu1900Gln) c.5770G>C (p.Glu1924Gln) | |
3 | g.38550545C>T | CA352139803 | SCN5A | c.5824G>A (p.Glu1942Lys) c.5827G>A (p.Glu1943Lys) c.5773G>A (p.Glu1925Lys) c.5665G>A (p.Glu1889Lys) c.5728G>A (p.Glu1910Lys) c.5698G>A (p.Glu1900Lys) c.5770G>A (p.Glu1924Lys) | dbSNP gnomAD v4 |
3 | g.38550545_38550547delinsCAG | CA1358556016 | SCN5A | c.5822_5824delinsCTG (p.Pro1941=) c.5825_5827delinsCTG (p.Pro1942=) c.5771_5773delinsCTG (p.Pro1924=) c.5663_5665delinsCTG (p.Pro1888=) c.5726_5728delinsCTG (p.Pro1909=) c.5696_5698delinsCTG (p.Pro1899=) c.5768_5770delinsCTG (p.Pro1923=) | |
3 | g.38550546A>C | CA433331720 | SCN5A | c.5823T>G (p.Pro1941=) c.5826T>G (p.Pro1942=) c.5772T>G (p.Pro1924=) c.5664T>G (p.Pro1888=) c.5727T>G (p.Pro1909=) c.5697T>G (p.Pro1899=) c.5769T>G (p.Pro1923=) | ClinVar dbSNP |
3 | g.38550546A>G | CA433331721 | SCN5A | c.5823T>C (p.Pro1941=) c.5826T>C (p.Pro1942=) c.5772T>C (p.Pro1924=) c.5664T>C (p.Pro1888=) c.5727T>C (p.Pro1909=) c.5697T>C (p.Pro1899=) c.5769T>C (p.Pro1923=) | |
3 | g.38550546A>T | CA433331722 | SCN5A | c.5823T>A (p.Pro1941=) c.5826T>A (p.Pro1942=) c.5772T>A (p.Pro1924=) c.5664T>A (p.Pro1888=) c.5727T>A (p.Pro1909=) c.5697T>A (p.Pro1899=) c.5769T>A (p.Pro1923=) | |
3 | g.38550546_38550547del | CA658822522 | SCN5A | c.5822_5823del (p.Pro1941ArgfsTer12) c.5825_5826del (p.Pro1942ArgfsTer12) c.5771_5772del (p.Pro1924ArgfsTer12) c.5663_5664del (p.Pro1888ArgfsTer12) c.5726_5727del (p.Pro1909ArgfsTer12) c.5696_5697del (p.Pro1899ArgfsTer12) c.5768_5769del (p.Pro1923ArgfsTer12) | ClinVar dbSNP gnomAD v4 |
3 | g.38550546_38550561delinsAGGGGCATCCTCTTCG | CA1358556024 | SCN5A | c.5808_5823delinsCGAAGAGGATGCCCCT (p.Ser1936=) c.5811_5826delinsCGAAGAGGATGCCCCT (p.Ser1937=) c.5757_5772delinsCGAAGAGGATGCCCCT (p.Ser1919=) c.5649_5664delinsCGAAGAGGATGCCCCT (p.Ser1883=) c.5712_5727delinsCGAAGAGGATGCCCCT (p.Ser1904=) c.5682_5697delinsCGAAGAGGATGCCCCT (p.Ser1894=) c.5754_5769delinsCGAAGAGGATGCCCCT (p.Ser1918=) | |
3 | g.38550547G>A | CA352139808 | SCN5A | c.5822C>T (p.Pro1941Leu) c.5825C>T (p.Pro1942Leu) c.5771C>T (p.Pro1924Leu) c.5663C>T (p.Pro1888Leu) c.5726C>T (p.Pro1909Leu) c.5696C>T (p.Pro1899Leu) c.5768C>T (p.Pro1923Leu) | |
3 | g.38550547G>C | CA352139809 | SCN5A | c.5822C>G (p.Pro1941Arg) c.5825C>G (p.Pro1942Arg) c.5771C>G (p.Pro1924Arg) c.5663C>G (p.Pro1888Arg) c.5726C>G (p.Pro1909Arg) c.5696C>G (p.Pro1899Arg) c.5768C>G (p.Pro1923Arg) | |
3 | g.38550547G= | CA1358556028 | SCN5A | c.5822C= (p.Pro1941=) c.5825C= (p.Pro1942=) c.5771C= (p.Pro1924=) c.5663C= (p.Pro1888=) c.5726C= (p.Pro1909=) c.5696C= (p.Pro1899=) c.5768C= (p.Pro1923=) | |
3 | g.38550547G>T | CA352139806 | SCN5A | c.5822C>A (p.Pro1941His) c.5825C>A (p.Pro1942His) c.5771C>A (p.Pro1924His) c.5663C>A (p.Pro1888His) c.5726C>A (p.Pro1909His) c.5696C>A (p.Pro1899His) c.5768C>A (p.Pro1923His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550550del | CA2665106299 | SCN5A | c.5822del (p.Pro1941LeufsTer10) c.5825del (p.Pro1942LeufsTer10) c.5771del (p.Pro1924LeufsTer10) c.5663del (p.Pro1888LeufsTer10) c.5726del (p.Pro1909LeufsTer10) c.5696del (p.Pro1899LeufsTer10) c.5768del (p.Pro1923LeufsTer10) | gnomAD v4 |
3 | g.38550548_38550562del | CA064849 | SCN5A | c.5808_5822del (p.Glu1937_Pro1941del) c.5811_5825del (p.Glu1938_Pro1942del) c.5757_5771del (p.Glu1920_Pro1924del) c.5649_5663del (p.Glu1884_Pro1888del) c.5712_5726del (p.Glu1905_Pro1909del) c.5682_5696del (p.Glu1895_Pro1899del) c.5754_5768del (p.Glu1919_Pro1923del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550548G>A | CA064869 | SCN5A | c.5821C>T (p.Pro1941Ser) c.5824C>T (p.Pro1942Ser) c.5770C>T (p.Pro1924Ser) c.5662C>T (p.Pro1888Ser) c.5725C>T (p.Pro1909Ser) c.5695C>T (p.Pro1899Ser) c.5767C>T (p.Pro1923Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550548G>C | CA352139812 | SCN5A | c.5821C>G (p.Pro1941Ala) c.5824C>G (p.Pro1942Ala) c.5770C>G (p.Pro1924Ala) c.5662C>G (p.Pro1888Ala) c.5725C>G (p.Pro1909Ala) c.5695C>G (p.Pro1899Ala) c.5767C>G (p.Pro1923Ala) | |
3 | g.38550548G= | CA1358556030 | SCN5A | c.5821C= (p.Pro1941=) c.5824C= (p.Pro1942=) c.5770C= (p.Pro1924=) c.5662C= (p.Pro1888=) c.5725C= (p.Pro1909=) c.5695C= (p.Pro1899=) c.5767C= (p.Pro1923=) | |
3 | g.38550548G>T | CA352139813 | SCN5A | c.5821C>A (p.Pro1941Thr) c.5824C>A (p.Pro1942Thr) c.5770C>A (p.Pro1924Thr) c.5662C>A (p.Pro1888Thr) c.5725C>A (p.Pro1909Thr) c.5695C>A (p.Pro1899Thr) c.5767C>A (p.Pro1923Thr) | gnomAD v4 |
3 | g.38550549G>A | CA433331728 | SCN5A | c.5820C>T (p.Ala1940=) c.5823C>T (p.Ala1941=) c.5769C>T (p.Ala1923=) c.5661C>T (p.Ala1887=) c.5724C>T (p.Ala1908=) c.5694C>T (p.Ala1898=) c.5766C>T (p.Ala1922=) | ClinVar dbSNP |
3 | g.38550549G>C | CA433331730 | SCN5A | c.5820C>G (p.Ala1940=) c.5823C>G (p.Ala1941=) c.5769C>G (p.Ala1923=) c.5661C>G (p.Ala1887=) c.5724C>G (p.Ala1908=) c.5694C>G (p.Ala1898=) c.5766C>G (p.Ala1922=) | |
3 | g.38550549G>T | CA433331729 | SCN5A | c.5820C>A (p.Ala1940=) c.5823C>A (p.Ala1941=) c.5769C>A (p.Ala1923=) c.5661C>A (p.Ala1887=) c.5724C>A (p.Ala1908=) c.5694C>A (p.Ala1898=) c.5766C>A (p.Ala1922=) | |
3 | g.38550550G>A | CA352139814 | SCN5A | c.5819C>T (p.Ala1940Val) c.5822C>T (p.Ala1941Val) c.5768C>T (p.Ala1923Val) c.5660C>T (p.Ala1887Val) c.5723C>T (p.Ala1908Val) c.5693C>T (p.Ala1898Val) c.5765C>T (p.Ala1922Val) | gnomAD v4 |
3 | g.38550550G>C | CA352139816 | SCN5A | c.5819C>G (p.Ala1940Gly) c.5822C>G (p.Ala1941Gly) c.5768C>G (p.Ala1923Gly) c.5660C>G (p.Ala1887Gly) c.5723C>G (p.Ala1908Gly) c.5693C>G (p.Ala1898Gly) c.5765C>G (p.Ala1922Gly) | |
3 | g.38550550G>T | CA352139818 | SCN5A | c.5819C>A (p.Ala1940Asp) c.5822C>A (p.Ala1941Asp) c.5768C>A (p.Ala1923Asp) c.5660C>A (p.Ala1887Asp) c.5723C>A (p.Ala1908Asp) c.5693C>A (p.Ala1898Asp) c.5765C>A (p.Ala1922Asp) | ClinVar |
3 | g.38550551C>A | CA352139819 | SCN5A | c.5818G>T (p.Ala1940Ser) c.5821G>T (p.Ala1941Ser) c.5767G>T (p.Ala1923Ser) c.5659G>T (p.Ala1887Ser) c.5722G>T (p.Ala1908Ser) c.5692G>T (p.Ala1898Ser) c.5764G>T (p.Ala1922Ser) | |
3 | g.38550551C= | CA1358556032 | SCN5A | c.5818G= (p.Ala1940=) c.5821G= (p.Ala1941=) c.5767G= (p.Ala1923=) c.5659G= (p.Ala1887=) c.5722G= (p.Ala1908=) c.5692G= (p.Ala1898=) c.5764G= (p.Ala1922=) | |
3 | g.38550551C>G | CA352139821 | SCN5A | c.5818G>C (p.Ala1940Pro) c.5821G>C (p.Ala1941Pro) c.5767G>C (p.Ala1923Pro) c.5659G>C (p.Ala1887Pro) c.5722G>C (p.Ala1908Pro) c.5692G>C (p.Ala1898Pro) c.5764G>C (p.Ala1922Pro) | |
3 | g.38550551C>T | CA352139822 | SCN5A | c.5818G>A (p.Ala1940Thr) c.5821G>A (p.Ala1941Thr) c.5767G>A (p.Ala1923Thr) c.5659G>A (p.Ala1887Thr) c.5722G>A (p.Ala1908Thr) c.5692G>A (p.Ala1898Thr) c.5764G>A (p.Ala1922Thr) | dbSNP |
3 | g.38550552A>C | CA352139823 | SCN5A | c.5817T>G (p.Asp1939Glu) c.5820T>G (p.Asp1940Glu) c.5766T>G (p.Asp1922Glu) c.5658T>G (p.Asp1886Glu) c.5721T>G (p.Asp1907Glu) c.5691T>G (p.Asp1897Glu) c.5763T>G (p.Asp1921Glu) | |
3 | g.38550552A>G | CA433331739 | SCN5A | c.5817T>C (p.Asp1939=) c.5820T>C (p.Asp1940=) c.5766T>C (p.Asp1922=) c.5658T>C (p.Asp1886=) c.5721T>C (p.Asp1907=) c.5691T>C (p.Asp1897=) c.5763T>C (p.Asp1921=) | gnomAD v4 |
3 | g.38550552A>T | CA352139825 | SCN5A | c.5817T>A (p.Asp1939Glu) c.5820T>A (p.Asp1940Glu) c.5766T>A (p.Asp1922Glu) c.5658T>A (p.Asp1886Glu) c.5721T>A (p.Asp1907Glu) c.5691T>A (p.Asp1897Glu) c.5763T>A (p.Asp1921Glu) | |
3 | g.38550553T>A | CA352139830 | SCN5A | c.5816A>T (p.Asp1939Val) c.5819A>T (p.Asp1940Val) c.5765A>T (p.Asp1922Val) c.5657A>T (p.Asp1886Val) c.5720A>T (p.Asp1907Val) c.5690A>T (p.Asp1897Val) c.5762A>T (p.Asp1921Val) | |
3 | g.38550553T>C | CA352139829 | SCN5A | c.5816A>G (p.Asp1939Gly) c.5819A>G (p.Asp1940Gly) c.5765A>G (p.Asp1922Gly) c.5657A>G (p.Asp1886Gly) c.5720A>G (p.Asp1907Gly) c.5690A>G (p.Asp1897Gly) c.5762A>G (p.Asp1921Gly) | ClinVar |
3 | g.38550553T>G | CA352139827 | SCN5A | c.5816A>C (p.Asp1939Ala) c.5819A>C (p.Asp1940Ala) c.5765A>C (p.Asp1922Ala) c.5657A>C (p.Asp1886Ala) c.5720A>C (p.Asp1907Ala) c.5690A>C (p.Asp1897Ala) c.5762A>C (p.Asp1921Ala) | |
3 | g.38550554C>A | CA352139833 | SCN5A | c.5815G>T (p.Asp1939Tyr) c.5818G>T (p.Asp1940Tyr) c.5764G>T (p.Asp1922Tyr) c.5656G>T (p.Asp1886Tyr) c.5719G>T (p.Asp1907Tyr) c.5689G>T (p.Asp1897Tyr) c.5761G>T (p.Asp1921Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38550554C= | CA1358556036 | SCN5A | c.5815G= (p.Asp1939=) c.5818G= (p.Asp1940=) c.5764G= (p.Asp1922=) c.5656G= (p.Asp1886=) c.5719G= (p.Asp1907=) c.5689G= (p.Asp1897=) c.5761G= (p.Asp1921=) | |
3 | g.38550554C>G | CA352139834 | SCN5A | c.5815G>C (p.Asp1939His) c.5818G>C (p.Asp1940His) c.5764G>C (p.Asp1922His) c.5656G>C (p.Asp1886His) c.5719G>C (p.Asp1907His) c.5689G>C (p.Asp1897His) c.5761G>C (p.Asp1921His) | |
3 | g.38550554C>T | CA352139836 | SCN5A | c.5815G>A (p.Asp1939Asn) c.5818G>A (p.Asp1940Asn) c.5764G>A (p.Asp1922Asn) c.5656G>A (p.Asp1886Asn) c.5719G>A (p.Asp1907Asn) c.5689G>A (p.Asp1897Asn) c.5761G>A (p.Asp1921Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38550555C>A | CA352139837 | SCN5A | c.5814G>T (p.Glu1938Asp) c.5817G>T (p.Glu1939Asp) c.5763G>T (p.Glu1921Asp) c.5655G>T (p.Glu1885Asp) c.5718G>T (p.Glu1906Asp) c.5688G>T (p.Glu1896Asp) c.5760G>T (p.Glu1920Asp) | ClinVar dbSNP |
3 | g.38550555C>G | CA352139838 | SCN5A | c.5814G>C (p.Glu1938Asp) c.5817G>C (p.Glu1939Asp) c.5763G>C (p.Glu1921Asp) c.5655G>C (p.Glu1885Asp) c.5718G>C (p.Glu1906Asp) c.5688G>C (p.Glu1896Asp) c.5760G>C (p.Glu1920Asp) | |
3 | g.38550555C>T | CA433331749 | SCN5A | c.5814G>A (p.Glu1938=) c.5817G>A (p.Glu1939=) c.5763G>A (p.Glu1921=) c.5655G>A (p.Glu1885=) c.5718G>A (p.Glu1906=) c.5688G>A (p.Glu1896=) c.5760G>A (p.Glu1920=) | ClinVar |
3 | g.38550556T>A | CA352139839 | SCN5A | c.5813A>T (p.Glu1938Val) c.5816A>T (p.Glu1939Val) c.5762A>T (p.Glu1921Val) c.5654A>T (p.Glu1885Val) c.5717A>T (p.Glu1906Val) c.5687A>T (p.Glu1896Val) c.5759A>T (p.Glu1920Val) | |
3 | g.38550556T>C | CA352139840 | SCN5A | c.5813A>G (p.Glu1938Gly) c.5816A>G (p.Glu1939Gly) c.5762A>G (p.Glu1921Gly) c.5654A>G (p.Glu1885Gly) c.5717A>G (p.Glu1906Gly) c.5687A>G (p.Glu1896Gly) c.5759A>G (p.Glu1920Gly) | |
3 | g.38550556T>G | CA352139841 | SCN5A | c.5813A>C (p.Glu1938Ala) c.5816A>C (p.Glu1939Ala) c.5762A>C (p.Glu1921Ala) c.5654A>C (p.Glu1885Ala) c.5717A>C (p.Glu1906Ala) c.5687A>C (p.Glu1896Ala) c.5759A>C (p.Glu1920Ala) | gnomAD v4 |
3 | g.38550557C>A | CA352139843 | SCN5A | c.5812G>T (p.Glu1938Ter) c.5815G>T (p.Glu1939Ter) c.5761G>T (p.Glu1921Ter) c.5653G>T (p.Glu1885Ter) c.5716G>T (p.Glu1906Ter) c.5686G>T (p.Glu1896Ter) c.5758G>T (p.Glu1920Ter) | dbSNP |
3 | g.38550557C= | CA1358556039 | SCN5A | c.5812G= (p.Glu1938=) c.5815G= (p.Glu1939=) c.5761G= (p.Glu1921=) c.5653G= (p.Glu1885=) c.5716G= (p.Glu1906=) c.5686G= (p.Glu1896=) c.5758G= (p.Glu1920=) | |
3 | g.38550557C>G | CA352139845 | SCN5A | c.5812G>C (p.Glu1938Gln) c.5815G>C (p.Glu1939Gln) c.5761G>C (p.Glu1921Gln) c.5653G>C (p.Glu1885Gln) c.5716G>C (p.Glu1906Gln) c.5686G>C (p.Glu1896Gln) c.5758G>C (p.Glu1920Gln) | |
3 | g.38550557C>T | CA352139846 | SCN5A | c.5812G>A (p.Glu1938Lys) c.5815G>A (p.Glu1939Lys) c.5761G>A (p.Glu1921Lys) c.5653G>A (p.Glu1885Lys) c.5716G>A (p.Glu1906Lys) c.5686G>A (p.Glu1896Lys) c.5758G>A (p.Glu1920Lys) | |
3 | g.38550558T>A | CA352139848 | SCN5A | c.5811A>T (p.Glu1937Asp) c.5814A>T (p.Glu1938Asp) c.5760A>T (p.Glu1920Asp) c.5652A>T (p.Glu1884Asp) c.5715A>T (p.Glu1905Asp) c.5685A>T (p.Glu1895Asp) c.5757A>T (p.Glu1919Asp) | |
3 | g.38550558T>C | CA433331751 | SCN5A | c.5811A>G (p.Glu1937=) c.5814A>G (p.Glu1938=) c.5760A>G (p.Glu1920=) c.5652A>G (p.Glu1884=) c.5715A>G (p.Glu1905=) c.5685A>G (p.Glu1895=) c.5757A>G (p.Glu1919=) | |
3 | g.38550558T>G | CA352139850 | SCN5A | c.5811A>C (p.Glu1937Asp) c.5814A>C (p.Glu1938Asp) c.5760A>C (p.Glu1920Asp) c.5652A>C (p.Glu1884Asp) c.5715A>C (p.Glu1905Asp) c.5685A>C (p.Glu1895Asp) c.5757A>C (p.Glu1919Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.38550558T= | CA1358556043 | SCN5A | c.5811A= (p.Glu1937=) c.5814A= (p.Glu1938=) c.5760A= (p.Glu1920=) c.5652A= (p.Glu1884=) c.5715A= (p.Glu1905=) c.5685A= (p.Glu1895=) c.5757A= (p.Glu1919=) | |
3 | g.38550559T>A | CA352139853 | SCN5A | c.5810A>T (p.Glu1937Val) c.5813A>T (p.Glu1938Val) c.5759A>T (p.Glu1920Val) c.5651A>T (p.Glu1884Val) c.5714A>T (p.Glu1905Val) c.5684A>T (p.Glu1895Val) c.5756A>T (p.Glu1919Val) | |
3 | g.38550559T>C | CA352139855 | SCN5A | c.5810A>G (p.Glu1937Gly) c.5813A>G (p.Glu1938Gly) c.5759A>G (p.Glu1920Gly) c.5651A>G (p.Glu1884Gly) c.5714A>G (p.Glu1905Gly) c.5684A>G (p.Glu1895Gly) c.5756A>G (p.Glu1919Gly) | |
3 | g.38550559T>G | CA352139851 | SCN5A | c.5810A>C (p.Glu1937Ala) c.5813A>C (p.Glu1938Ala) c.5759A>C (p.Glu1920Ala) c.5651A>C (p.Glu1884Ala) c.5714A>C (p.Glu1905Ala) c.5684A>C (p.Glu1895Ala) c.5756A>C (p.Glu1919Ala) | gnomAD v4 |
3 | g.38550560C>A | CA064864 | SCN5A | c.5809G>T (p.Glu1937Ter) c.5812G>T (p.Glu1938Ter) c.5758G>T (p.Glu1920Ter) c.5650G>T (p.Glu1884Ter) c.5713G>T (p.Glu1905Ter) c.5683G>T (p.Glu1895Ter) c.5755G>T (p.Glu1919Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550560C= | CA1358556048 | SCN5A | c.5809G= (p.Glu1937=) c.5812G= (p.Glu1938=) c.5758G= (p.Glu1920=) c.5650G= (p.Glu1884=) c.5713G= (p.Glu1905=) c.5683G= (p.Glu1895=) c.5755G= (p.Glu1919=) | |
3 | g.38550560C>G | CA352139858 | SCN5A | c.5809G>C (p.Glu1937Gln) c.5812G>C (p.Glu1938Gln) c.5758G>C (p.Glu1920Gln) c.5650G>C (p.Glu1884Gln) c.5713G>C (p.Glu1905Gln) c.5683G>C (p.Glu1895Gln) c.5755G>C (p.Glu1919Gln) | |
3 | g.38550560C>T | CA019487 | SCN5A | c.5809G>A (p.Glu1937Lys) c.5812G>A (p.Glu1938Lys) c.5758G>A (p.Glu1920Lys) c.5650G>A (p.Glu1884Lys) c.5713G>A (p.Glu1905Lys) c.5683G>A (p.Glu1895Lys) c.5755G>A (p.Glu1919Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550561G>A | CA064853 | SCN5A | c.5808C>T (p.Ser1936=) c.5811C>T (p.Ser1937=) c.5757C>T (p.Ser1919=) c.5649C>T (p.Ser1883=) c.5712C>T (p.Ser1904=) c.5682C>T (p.Ser1894=) c.5754C>T (p.Ser1918=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38550561G>C | CA433331757 | SCN5A | c.5808C>G (p.Ser1936=) c.5811C>G (p.Ser1937=) c.5757C>G (p.Ser1919=) c.5649C>G (p.Ser1883=) c.5712C>G (p.Ser1904=) c.5682C>G (p.Ser1894=) c.5754C>G (p.Ser1918=) | ClinVar dbSNP gnomAD v4 |
3 | g.38550561G= | CA1358556057 | SCN5A | c.5808C= (p.Ser1936=) c.5811C= (p.Ser1937=) c.5757C= (p.Ser1919=) c.5649C= (p.Ser1883=) c.5712C= (p.Ser1904=) c.5682C= (p.Ser1894=) c.5754C= (p.Ser1918=) | |
3 | g.38550561G>T | CA433331758 | SCN5A | c.5808C>A (p.Ser1936=) c.5811C>A (p.Ser1937=) c.5757C>A (p.Ser1919=) c.5649C>A (p.Ser1883=) c.5712C>A (p.Ser1904=) c.5682C>A (p.Ser1894=) c.5754C>A (p.Ser1918=) | |
3 | g.38550562G>A | CA352139862 | SCN5A | c.5807C>T (p.Ser1936Phe) c.5810C>T (p.Ser1937Phe) c.5756C>T (p.Ser1919Phe) c.5648C>T (p.Ser1883Phe) c.5711C>T (p.Ser1904Phe) c.5681C>T (p.Ser1894Phe) c.5753C>T (p.Ser1918Phe) | |
3 | g.38550562G>C | CA352139863 | SCN5A | c.5807C>G (p.Ser1936Cys) c.5810C>G (p.Ser1937Cys) c.5756C>G (p.Ser1919Cys) c.5648C>G (p.Ser1883Cys) c.5711C>G (p.Ser1904Cys) c.5681C>G (p.Ser1894Cys) c.5753C>G (p.Ser1918Cys) | |
3 | g.38550562G>T | CA352139865 | SCN5A | c.5807C>A (p.Ser1936Tyr) c.5810C>A (p.Ser1937Tyr) c.5756C>A (p.Ser1919Tyr) c.5648C>A (p.Ser1883Tyr) c.5711C>A (p.Ser1904Tyr) c.5681C>A (p.Ser1894Tyr) c.5753C>A (p.Ser1918Tyr) | |
3 | g.38550563A= | CA1358556062 | SCN5A | c.5806T= (p.Ser1936=) c.5809T= (p.Ser1937=) c.5755T= (p.Ser1919=) c.5647T= (p.Ser1883=) c.5710T= (p.Ser1904=) c.5680T= (p.Ser1894=) c.5752T= (p.Ser1918=) | |
3 | g.38550563A>C | CA064846 | SCN5A | c.5806T>G (p.Ser1936Ala) c.5809T>G (p.Ser1937Ala) c.5755T>G (p.Ser1919Ala) c.5647T>G (p.Ser1883Ala) c.5710T>G (p.Ser1904Ala) c.5680T>G (p.Ser1894Ala) c.5752T>G (p.Ser1918Ala) | dbSNP ExAC gnomAD v2 |
3 | g.38550563A>G | CA352139869 | SCN5A | c.5806T>C (p.Ser1936Pro) c.5809T>C (p.Ser1937Pro) c.5755T>C (p.Ser1919Pro) c.5647T>C (p.Ser1883Pro) c.5710T>C (p.Ser1904Pro) c.5680T>C (p.Ser1894Pro) c.5752T>C (p.Ser1918Pro) | |
3 | g.38550563A>T | CA352139867 | SCN5A | c.5806T>A (p.Ser1936Thr) c.5809T>A (p.Ser1937Thr) c.5755T>A (p.Ser1919Thr) c.5647T>A (p.Ser1883Thr) c.5710T>A (p.Ser1904Thr) c.5680T>A (p.Ser1894Thr) c.5752T>A (p.Ser1918Thr) | |
3 | g.38550564G>A | CA72937780 | SCN5A | c.5805C>T (p.Leu1935=) c.5808C>T (p.Leu1936=) c.5754C>T (p.Leu1918=) c.5646C>T (p.Leu1882=) c.5709C>T (p.Leu1903=) c.5679C>T (p.Leu1893=) c.5751C>T (p.Leu1917=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550564G>C | CA433331771 | SCN5A | c.5805C>G (p.Leu1935=) c.5808C>G (p.Leu1936=) c.5754C>G (p.Leu1918=) c.5646C>G (p.Leu1882=) c.5709C>G (p.Leu1903=) c.5679C>G (p.Leu1893=) c.5751C>G (p.Leu1917=) | |
3 | g.38550564G= | CA1358556065 | SCN5A | c.5805C= (p.Leu1935=) c.5808C= (p.Leu1936=) c.5754C= (p.Leu1918=) c.5646C= (p.Leu1882=) c.5709C= (p.Leu1903=) c.5679C= (p.Leu1893=) c.5751C= (p.Leu1917=) | |
3 | g.38550564G>T | CA433331772 | SCN5A | c.5805C>A (p.Leu1935=) c.5808C>A (p.Leu1936=) c.5754C>A (p.Leu1918=) c.5646C>A (p.Leu1882=) c.5709C>A (p.Leu1903=) c.5679C>A (p.Leu1893=) c.5751C>A (p.Leu1917=) | |
3 | g.38550565A>C | CA352139871 | SCN5A | c.5804T>G (p.Leu1935Arg) c.5807T>G (p.Leu1936Arg) c.5753T>G (p.Leu1918Arg) c.5645T>G (p.Leu1882Arg) c.5708T>G (p.Leu1903Arg) c.5678T>G (p.Leu1893Arg) c.5750T>G (p.Leu1917Arg) | |
3 | g.38550565A>G | CA352139873 | SCN5A | c.5804T>C (p.Leu1935Pro) c.5807T>C (p.Leu1936Pro) c.5753T>C (p.Leu1918Pro) c.5645T>C (p.Leu1882Pro) c.5708T>C (p.Leu1903Pro) c.5678T>C (p.Leu1893Pro) c.5750T>C (p.Leu1917Pro) | |
3 | g.38550565A>T | CA352139875 | SCN5A | c.5804T>A (p.Leu1935His) c.5807T>A (p.Leu1936His) c.5753T>A (p.Leu1918His) c.5645T>A (p.Leu1882His) c.5708T>A (p.Leu1903His) c.5678T>A (p.Leu1893His) c.5750T>A (p.Leu1917His) | |
3 | g.38550566G>A | CA352139877 | SCN5A | c.5803C>T (p.Leu1935Phe) c.5806C>T (p.Leu1936Phe) c.5752C>T (p.Leu1918Phe) c.5644C>T (p.Leu1882Phe) c.5707C>T (p.Leu1903Phe) c.5677C>T (p.Leu1893Phe) c.5749C>T (p.Leu1917Phe) | |
3 | g.38550566G>C | CA352139881 | SCN5A | c.5803C>G (p.Leu1935Val) c.5806C>G (p.Leu1936Val) c.5752C>G (p.Leu1918Val) c.5644C>G (p.Leu1882Val) c.5707C>G (p.Leu1903Val) c.5677C>G (p.Leu1893Val) c.5749C>G (p.Leu1917Val) | |
3 | g.38550566G>T | CA352139879 | SCN5A | c.5803C>A (p.Leu1935Ile) c.5806C>A (p.Leu1936Ile) c.5752C>A (p.Leu1918Ile) c.5644C>A (p.Leu1882Ile) c.5707C>A (p.Leu1903Ile) c.5677C>A (p.Leu1893Ile) c.5749C>A (p.Leu1917Ile) | |
3 | g.38550567G>A | CA433331775 | SCN5A | c.5802C>T (p.Gly1934=) c.5805C>T (p.Gly1935=) c.5751C>T (p.Gly1917=) c.5643C>T (p.Gly1881=) c.5706C>T (p.Gly1902=) c.5676C>T (p.Gly1892=) c.5748C>T (p.Gly1916=) | |
3 | g.38550567G>C | CA433331778 | SCN5A | c.5802C>G (p.Gly1934=) c.5805C>G (p.Gly1935=) c.5751C>G (p.Gly1917=) c.5643C>G (p.Gly1881=) c.5706C>G (p.Gly1902=) c.5676C>G (p.Gly1892=) c.5748C>G (p.Gly1916=) | |
3 | g.38550567G>T | CA433331779 | SCN5A | c.5802C>A (p.Gly1934=) c.5805C>A (p.Gly1935=) c.5751C>A (p.Gly1917=) c.5643C>A (p.Gly1881=) c.5706C>A (p.Gly1902=) c.5676C>A (p.Gly1892=) c.5748C>A (p.Gly1916=) | |
3 | g.38550567_38550568dup | CA2573136414 | SCN5A | c.5801_5802dup (p.Leu1935AlafsTer17) c.5804_5805dup (p.Leu1936AlafsTer17) c.5750_5751dup (p.Leu1918AlafsTer17) c.5642_5643dup (p.Leu1882AlafsTer17) c.5705_5706dup (p.Leu1903AlafsTer17) c.5675_5676dup (p.Leu1893AlafsTer17) c.5747_5748dup (p.Leu1917AlafsTer17) | ClinVar dbSNP |
3 | g.38550568C>A | CA352139883 | SCN5A | c.5801G>T (p.Gly1934Val) c.5804G>T (p.Gly1935Val) c.5750G>T (p.Gly1917Val) c.5642G>T (p.Gly1881Val) c.5705G>T (p.Gly1902Val) c.5675G>T (p.Gly1892Val) c.5747G>T (p.Gly1916Val) | gnomAD v4 |
3 | g.38550568C>G | CA352139885 | SCN5A | c.5801G>C (p.Gly1934Ala) c.5804G>C (p.Gly1935Ala) c.5750G>C (p.Gly1917Ala) c.5642G>C (p.Gly1881Ala) c.5705G>C (p.Gly1902Ala) c.5675G>C (p.Gly1892Ala) c.5747G>C (p.Gly1916Ala) | |
3 | g.38550568C>T | CA352139887 | SCN5A | c.5801G>A (p.Gly1934Asp) c.5804G>A (p.Gly1935Asp) c.5750G>A (p.Gly1917Asp) c.5642G>A (p.Gly1881Asp) c.5705G>A (p.Gly1902Asp) c.5675G>A (p.Gly1892Asp) c.5747G>A (p.Gly1916Asp) | |
3 | g.38550569C>A | CA352139889 | SCN5A | c.5800G>T (p.Gly1934Cys) c.5803G>T (p.Gly1935Cys) c.5749G>T (p.Gly1917Cys) c.5641G>T (p.Gly1881Cys) c.5704G>T (p.Gly1902Cys) c.5674G>T (p.Gly1892Cys) c.5746G>T (p.Gly1916Cys) | |
3 | g.38550569C= | CA1358556071 | SCN5A | c.5800G= (p.Gly1934=) c.5803G= (p.Gly1935=) c.5749G= (p.Gly1917=) c.5641G= (p.Gly1881=) c.5704G= (p.Gly1902=) c.5674G= (p.Gly1892=) c.5746G= (p.Gly1916=) | |
3 | g.38550569C>G | CA352139891 | SCN5A | c.5800G>C (p.Gly1934Arg) c.5803G>C (p.Gly1935Arg) c.5749G>C (p.Gly1917Arg) c.5641G>C (p.Gly1881Arg) c.5704G>C (p.Gly1902Arg) c.5674G>C (p.Gly1892Arg) c.5746G>C (p.Gly1916Arg) | |
3 | g.38550569C>T | CA019483 | SCN5A | c.5800G>A (p.Gly1934Ser) c.5803G>A (p.Gly1935Ser) c.5749G>A (p.Gly1917Ser) c.5641G>A (p.Gly1881Ser) c.5704G>A (p.Gly1902Ser) c.5674G>A (p.Gly1892Ser) c.5746G>A (p.Gly1916Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550570G>A | CA019476 | SCN5A | c.5799C>T (p.Ser1933=) c.5802C>T (p.Ser1934=) c.5748C>T (p.Ser1916=) c.5640C>T (p.Ser1880=) c.5703C>T (p.Ser1901=) c.5673C>T (p.Ser1891=) c.5745C>T (p.Ser1915=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550570G>C | CA352139894 | SCN5A | c.5799C>G (p.Ser1933Arg) c.5802C>G (p.Ser1934Arg) c.5748C>G (p.Ser1916Arg) c.5640C>G (p.Ser1880Arg) c.5703C>G (p.Ser1901Arg) c.5673C>G (p.Ser1891Arg) c.5745C>G (p.Ser1915Arg) | |
3 | g.38550570G= | CA1358556077 | SCN5A | c.5799C= (p.Ser1933=) c.5802C= (p.Ser1934=) c.5748C= (p.Ser1916=) c.5640C= (p.Ser1880=) c.5703C= (p.Ser1901=) c.5673C= (p.Ser1891=) c.5745C= (p.Ser1915=) | |
3 | g.38550570G>T | CA352139896 | SCN5A | c.5799C>A (p.Ser1933Arg) c.5802C>A (p.Ser1934Arg) c.5748C>A (p.Ser1916Arg) c.5640C>A (p.Ser1880Arg) c.5703C>A (p.Ser1901Arg) c.5673C>A (p.Ser1891Arg) c.5745C>A (p.Ser1915Arg) |