Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38550302_38550348del | CA2697550799 | SCN5A | c.6026_*24del (n.[c.6026_*24del;Arg2009ThrfsTer29]) c.6029_*24del (n.[c.6029_*24del;Arg2010ThrfsTer29]) c.5975_*24del (n.[c.5975_*24del;Arg1992ThrfsTer29]) c.5867_*24del (n.[c.5867_*24del;Arg1956ThrfsTer29]) c.5930_*24del (n.[c.5930_*24del;Arg1977ThrfsTer29]) c.5900_*24del (n.[c.5900_*24del;Arg1967ThrfsTer29]) c.5972_*24del (n.[c.5972_*24del;Arg1991ThrfsTer29]) | ClinVar |
3 | g.38550313G>T | CA2665105968 | SCN5A | c.*8C>A (n.*8C>A) | gnomAD v4 |
3 | g.38550315C>A | CA10618412 | SCN5A | c.*6G>T (n.*6G>T) | ClinVar dbSNP |
3 | g.38550315C= | CA1358561692 | SCN5A | c.*6G= (n.*6G=) | |
3 | g.38550315C>G | CA2665105972 | SCN5A | c.*6G>C (n.*6G>C) | gnomAD v4 |
3 | g.38550315C>T | CA065542 | SCN5A | c.*6G>A (n.*6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550316G>A | CA065138 | SCN5A | c.*5C>T (n.*5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550316G= | CA1358561693 | SCN5A | c.*5C= (n.*5C=) | |
3 | g.38550318G>A | CA2665105981 | SCN5A | c.*3C>T (n.*3C>T) | gnomAD v4 |
3 | g.38550319G>A | CA2665105982 | SCN5A | c.*2C>T (n.*2C>T) | gnomAD v4 |
3 | g.38550319G>T | CA2665105983 | SCN5A | c.*2C>A (n.*2C>A) | gnomAD v4 |
3 | g.38550320C>A | CA2755900057 | SCN5A | c.*1G>T (n.*1G>T) | |
3 | g.38550320C= | CA1358561694 | SCN5A | c.*1G= (n.*1G=) | |
3 | g.38550320C>T | CA059438 | SCN5A | c.*1G>A (n.*1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550321T>A | CA352138950 | SCN5A | c.6048A>T (p.Ter2016Cys) c.6051A>T (p.Ter2017Cys) c.5997A>T (p.Ter1999Cys) c.5889A>T (p.Ter1963Cys) c.5952A>T (p.Ter1984Cys) c.5922A>T (p.Ter1974Cys) c.5994A>T (p.Ter1998Cys) | |
3 | g.38550321T>C | CA352138952 | SCN5A | c.6048A>G (p.Ter2016Trp) c.6051A>G (p.Ter2017Trp) c.5997A>G (p.Ter1999Trp) c.5889A>G (p.Ter1963Trp) c.5952A>G (p.Ter1984Trp) c.5922A>G (p.Ter1974Trp) c.5994A>G (p.Ter1998Trp) | |
3 | g.38550321T>G | CA352138954 | SCN5A | c.6048A>C (p.Ter2016Cys) c.6051A>C (p.Ter2017Cys) c.5997A>C (p.Ter1999Cys) c.5889A>C (p.Ter1963Cys) c.5952A>C (p.Ter1984Cys) c.5922A>C (p.Ter1974Cys) c.5994A>C (p.Ter1998Cys) | |
3 | g.38550322C>A | CA352138958 | SCN5A | c.6047G>T (p.Ter2016Leu) c.6050G>T (p.Ter2017Leu) c.5996G>T (p.Ter1999Leu) c.5888G>T (p.Ter1963Leu) c.5951G>T (p.Ter1984Leu) c.5921G>T (p.Ter1974Leu) c.5993G>T (p.Ter1998Leu) | ClinVar dbSNP |
3 | g.38550322C= | CA1358561695 | SCN5A | c.6047G= (p.Ter2016=) c.6050G= (p.Ter2017=) c.5996G= (p.Ter1999=) c.5888G= (p.Ter1963=) c.5951G= (p.Ter1984=) c.5921G= (p.Ter1974=) c.5993G= (p.Ter1998=) | |
3 | g.38550322C>G | CA352138956 | SCN5A | c.6047G>C (p.Ter2016Ser) c.6050G>C (p.Ter2017Ser) c.5996G>C (p.Ter1999Ser) c.5888G>C (p.Ter1963Ser) c.5951G>C (p.Ter1984Ser) c.5921G>C (p.Ter1974Ser) c.5993G>C (p.Ter1998Ser) | |
3 | g.38550322C>T | CA065255 | SCN5A | c.6047G>A (p.Ter2016=) c.6050G>A (p.Ter2017=) c.5996G>A (p.Ter1999=) c.5888G>A (p.Ter1963=) c.5951G>A (p.Ter1984=) c.5921G>A (p.Ter1974=) c.5993G>A (p.Ter1998=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550323A= | CA1358561696 | SCN5A | c.6046T= (p.Ter2016=) c.6049T= (p.Ter2017=) c.5995T= (p.Ter1999=) c.5887T= (p.Ter1963=) c.5950T= (p.Ter1984=) c.5920T= (p.Ter1974=) c.5992T= (p.Ter1998=) | |
3 | g.38550323A>C | CA352138959 | SCN5A | c.6046T>G (p.Ter2016Gly) c.6049T>G (p.Ter2017Gly) c.5995T>G (p.Ter1999Gly) c.5887T>G (p.Ter1963Gly) c.5950T>G (p.Ter1984Gly) c.5920T>G (p.Ter1974Gly) c.5992T>G (p.Ter1998Gly) | |
3 | g.38550323A>G | CA352138961 | SCN5A | c.6046T>C (p.Ter2016Arg) c.6049T>C (p.Ter2017Arg) c.5995T>C (p.Ter1999Arg) c.5887T>C (p.Ter1963Arg) c.5950T>C (p.Ter1984Arg) c.5920T>C (p.Ter1974Arg) c.5992T>C (p.Ter1998Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550323A>T | CA352138963 | SCN5A | c.6046T>A (p.Ter2016Arg) c.6049T>A (p.Ter2017Arg) c.5995T>A (p.Ter1999Arg) c.5887T>A (p.Ter1963Arg) c.5950T>A (p.Ter1984Arg) c.5920T>A (p.Ter1974Arg) c.5992T>A (p.Ter1998Arg) | |
3 | g.38550324C>A | CA433134115 | SCN5A | c.6045G>T (p.Val2015=) c.6048G>T (p.Val2016=) c.5994G>T (p.Val1998=) c.5886G>T (p.Val1962=) c.5949G>T (p.Val1983=) c.5919G>T (p.Val1973=) c.5991G>T (p.Val1997=) | |
3 | g.38550324C= | CA1358561697 | SCN5A | c.6045G= (p.Val2015=) c.6048G= (p.Val2016=) c.5994G= (p.Val1998=) c.5886G= (p.Val1962=) c.5949G= (p.Val1983=) c.5919G= (p.Val1973=) c.5991G= (p.Val1997=) | |
3 | g.38550324C>G | CA433134116 | SCN5A | c.6045G>C (p.Val2015=) c.6048G>C (p.Val2016=) c.5994G>C (p.Val1998=) c.5886G>C (p.Val1962=) c.5949G>C (p.Val1983=) c.5919G>C (p.Val1973=) c.5991G>C (p.Val1997=) | |
3 | g.38550324C>T | CA16609848 | SCN5A | c.6045G>A (p.Val2015=) c.6048G>A (p.Val2016=) c.5994G>A (p.Val1998=) c.5886G>A (p.Val1962=) c.5949G>A (p.Val1983=) c.5919G>A (p.Val1973=) c.5991G>A (p.Val1997=) | ClinVar dbSNP |
3 | g.38550325A= | CA1358561698 | SCN5A | c.6044T= (p.Val2015=) c.6047T= (p.Val2016=) c.5993T= (p.Val1998=) c.5885T= (p.Val1962=) c.5948T= (p.Val1983=) c.5918T= (p.Val1973=) c.5990T= (p.Val1997=) | |
3 | g.38550325A>C | CA352138965 | SCN5A | c.6044T>G (p.Val2015Gly) c.6047T>G (p.Val2016Gly) c.5993T>G (p.Val1998Gly) c.5885T>G (p.Val1962Gly) c.5948T>G (p.Val1983Gly) c.5918T>G (p.Val1973Gly) c.5990T>G (p.Val1997Gly) | |
3 | g.38550325A>G | CA352138967 | SCN5A | c.6044T>C (p.Val2015Ala) c.6047T>C (p.Val2016Ala) c.5993T>C (p.Val1998Ala) c.5885T>C (p.Val1962Ala) c.5948T>C (p.Val1983Ala) c.5918T>C (p.Val1973Ala) c.5990T>C (p.Val1997Ala) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38550325A>T | CA72937629 | SCN5A | c.6044T>A (p.Val2015Glu) c.6047T>A (p.Val2016Glu) c.5993T>A (p.Val1998Glu) c.5885T>A (p.Val1962Glu) c.5948T>A (p.Val1983Glu) c.5918T>A (p.Val1973Glu) c.5990T>A (p.Val1997Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.38550325dup | CA2580069718 | SCN5A | c.6044dup (p.Ter2016ValextTer?) c.6047dup (p.Ter2017ValextTer?) c.5993dup (p.Ter1999ValextTer?) c.5885dup (p.Ter1963ValextTer?) c.5948dup (p.Ter1984ValextTer?) c.5918dup (p.Ter1974ValextTer?) c.5990dup (p.Ter1998ValextTer?) | ClinVar |
3 | g.38550326C>A | CA352138970 | SCN5A | c.6043G>T (p.Val2015Leu) c.6046G>T (p.Val2016Leu) c.5992G>T (p.Val1998Leu) c.5884G>T (p.Val1962Leu) c.5947G>T (p.Val1983Leu) c.5917G>T (p.Val1973Leu) c.5989G>T (p.Val1997Leu) | gnomAD v4 |
3 | g.38550326C= | CA1358561699 | SCN5A | c.6043G= (p.Val2015=) c.6046G= (p.Val2016=) c.5992G= (p.Val1998=) c.5884G= (p.Val1962=) c.5947G= (p.Val1983=) c.5917G= (p.Val1973=) c.5989G= (p.Val1997=) | |
3 | g.38550326C>G | CA352138971 | SCN5A | c.6043G>C (p.Val2015Leu) c.6046G>C (p.Val2016Leu) c.5992G>C (p.Val1998Leu) c.5884G>C (p.Val1962Leu) c.5947G>C (p.Val1983Leu) c.5917G>C (p.Val1973Leu) c.5989G>C (p.Val1997Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550326C>T | CA019615 | SCN5A | c.6043G>A (p.Val2015Met) c.6046G>A (p.Val2016Met) c.5992G>A (p.Val1998Met) c.5884G>A (p.Val1962Met) c.5947G>A (p.Val1983Met) c.5917G>A (p.Val1973Met) c.5989G>A (p.Val1997Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550327G>A | CA065247 | SCN5A | c.6042C>T (p.Ile2014=) c.6045C>T (p.Ile2015=) c.5991C>T (p.Ile1997=) c.5883C>T (p.Ile1961=) c.5946C>T (p.Ile1982=) c.5916C>T (p.Ile1972=) c.5988C>T (p.Ile1996=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550327G>C | CA352138975 | SCN5A | c.6042C>G (p.Ile2014Met) c.6045C>G (p.Ile2015Met) c.5991C>G (p.Ile1997Met) c.5883C>G (p.Ile1961Met) c.5946C>G (p.Ile1982Met) c.5916C>G (p.Ile1972Met) c.5988C>G (p.Ile1996Met) | gnomAD v4 |
3 | g.38550327G= | CA1358561700 | SCN5A | c.6042C= (p.Ile2014=) c.6045C= (p.Ile2015=) c.5991C= (p.Ile1997=) c.5883C= (p.Ile1961=) c.5946C= (p.Ile1982=) c.5916C= (p.Ile1972=) c.5988C= (p.Ile1996=) | |
3 | g.38550327G>T | CA433134118 | SCN5A | c.6042C>A (p.Ile2014=) c.6045C>A (p.Ile2015=) c.5991C>A (p.Ile1997=) c.5883C>A (p.Ile1961=) c.5946C>A (p.Ile1982=) c.5916C>A (p.Ile1972=) c.5988C>A (p.Ile1996=) | |
3 | g.38550328A>C | CA352138981 | SCN5A | c.6041T>G (p.Ile2014Ser) c.6044T>G (p.Ile2015Ser) c.5990T>G (p.Ile1997Ser) c.5882T>G (p.Ile1961Ser) c.5945T>G (p.Ile1982Ser) c.5915T>G (p.Ile1972Ser) c.5987T>G (p.Ile1996Ser) | |
3 | g.38550328A>G | CA352138980 | SCN5A | c.6041T>C (p.Ile2014Thr) c.6044T>C (p.Ile2015Thr) c.5990T>C (p.Ile1997Thr) c.5882T>C (p.Ile1961Thr) c.5945T>C (p.Ile1982Thr) c.5915T>C (p.Ile1972Thr) c.5987T>C (p.Ile1996Thr) | gnomAD v4 |
3 | g.38550328A>T | CA352138978 | SCN5A | c.6041T>A (p.Ile2014Asn) c.6044T>A (p.Ile2015Asn) c.5990T>A (p.Ile1997Asn) c.5882T>A (p.Ile1961Asn) c.5945T>A (p.Ile1982Asn) c.5915T>A (p.Ile1972Asn) c.5987T>A (p.Ile1996Asn) | |
3 | g.38550329T>A | CA352138983 | SCN5A | c.6040A>T (p.Ile2014Phe) c.6043A>T (p.Ile2015Phe) c.5989A>T (p.Ile1997Phe) c.5881A>T (p.Ile1961Phe) c.5944A>T (p.Ile1982Phe) c.5914A>T (p.Ile1972Phe) c.5986A>T (p.Ile1996Phe) | |
3 | g.38550329T>C | CA352138984 | SCN5A | c.6040A>G (p.Ile2014Val) c.6043A>G (p.Ile2015Val) c.5989A>G (p.Ile1997Val) c.5881A>G (p.Ile1961Val) c.5944A>G (p.Ile1982Val) c.5914A>G (p.Ile1972Val) c.5986A>G (p.Ile1996Val) | |
3 | g.38550329T>G | CA352138985 | SCN5A | c.6040A>C (p.Ile2014Leu) c.6043A>C (p.Ile2015Leu) c.5989A>C (p.Ile1997Leu) c.5881A>C (p.Ile1961Leu) c.5944A>C (p.Ile1982Leu) c.5914A>C (p.Ile1972Leu) c.5986A>C (p.Ile1996Leu) | |
3 | g.38550330G>A | CA433134119 | SCN5A | c.6039C>T (p.Ser2013=) c.6042C>T (p.Ser2014=) c.5988C>T (p.Ser1996=) c.5880C>T (p.Ser1960=) c.5943C>T (p.Ser1981=) c.5913C>T (p.Ser1971=) c.5985C>T (p.Ser1995=) | gnomAD v4 |
3 | g.38550330G>C | CA433134122 | SCN5A | c.6039C>G (p.Ser2013=) c.6042C>G (p.Ser2014=) c.5988C>G (p.Ser1996=) c.5880C>G (p.Ser1960=) c.5943C>G (p.Ser1981=) c.5913C>G (p.Ser1971=) c.5985C>G (p.Ser1995=) |