| 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.38550460_38550469delinsGTGGAGGAGA | CA1358555822 | SCN5A | c.5900_5909delinsTCTCCTCCAC (p.Ile1967=) c.5903_5912delinsTCTCCTCCAC (p.Ile1968=) c.5849_5858delinsTCTCCTCCAC (p.Ile1950=) c.5741_5750delinsTCTCCTCCAC (p.Ile1914=) c.5804_5813delinsTCTCCTCCAC (p.Ile1935=) c.5774_5783delinsTCTCCTCCAC (p.Ile1925=) c.5846_5855delinsTCTCCTCCAC (p.Ile1949=) | |
| 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.38550469A= | CA1358555837 | SCN5A | c.5900T= (p.Ile1967=) c.5903T= (p.Ile1968=) c.5849T= (p.Ile1950=) c.5741T= (p.Ile1914=) c.5804T= (p.Ile1935=) c.5774T= (p.Ile1925=) c.5846T= (p.Ile1949=) | |
| 3 | g.38550469A>C | CA019536 | SCN5A | c.5900T>G (p.Ile1967Ser) c.5903T>G (p.Ile1968Ser) c.5849T>G (p.Ile1950Ser) c.5741T>G (p.Ile1914Ser) c.5804T>G (p.Ile1935Ser) c.5774T>G (p.Ile1925Ser) c.5846T>G (p.Ile1949Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550469A>G | CA72937706 | SCN5A | c.5900T>C (p.Ile1967Thr) c.5903T>C (p.Ile1968Thr) c.5849T>C (p.Ile1950Thr) c.5741T>C (p.Ile1914Thr) c.5804T>C (p.Ile1935Thr) c.5774T>C (p.Ile1925Thr) c.5846T>C (p.Ile1949Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550469A>T | CA064976 | SCN5A | c.5900T>A (p.Ile1967Asn) c.5903T>A (p.Ile1968Asn) c.5849T>A (p.Ile1950Asn) c.5741T>A (p.Ile1914Asn) c.5804T>A (p.Ile1935Asn) c.5774T>A (p.Ile1925Asn) c.5846T>A (p.Ile1949Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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) | 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) | |
| 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) | 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=) |