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.38550303_38550304del | CA2665105957 | SCN5A | c.*17_*18del (n.*17_*18del) | gnomAD v4 |
3 | g.38550304G>A | CA2665105958 | SCN5A | c.*17C>T (n.*17C>T) | gnomAD v4 |
3 | g.38550304G>T | CA2665105959 | SCN5A | c.*17C>A (n.*17C>A) | gnomAD v4 |
3 | g.38550305C>T | CA2665105960 | SCN5A | c.*16G>A (n.*16G>A) | gnomAD v4 |
3 | g.38550306C= | CA1358561686 | SCN5A | c.*15G= (n.*15G=) | |
3 | g.38550306C>T | CA542269460 | SCN5A | c.*15G>A (n.*15G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550308G>A | CA72937622 | SCN5A | c.*13C>T (n.*13C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550308G= | CA1358561687 | SCN5A | c.*13C= (n.*13C=) | |
3 | g.38550308G>T | CA2665105965 | SCN5A | c.*13C>A (n.*13C>A) | gnomAD v4 |
3 | g.38550308dup | CA2665105962 | SCN5A | c.*13dup (n.*13dup) | gnomAD v4 |
3 | g.38550309C= | CA1358561689 | SCN5A | c.*12G= (n.*12G=) | |
3 | g.38550309C>G | CA1358561690 | SCN5A | c.*12G>C (n.*12G>C) | dbSNP |
3 | g.38550309C>T | CA1358561688 | SCN5A | c.*12G>A (n.*12G>A) | dbSNP gnomAD v4 |
3 | g.38550310C= | CA1358561691 | SCN5A | c.*11G= (n.*11G=) | |
3 | g.38550310C>T | CA057341 | SCN5A | c.*11G>A (n.*11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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=) | |
3 | g.38550330G>T | CA433134121 | SCN5A | c.6039C>A (p.Ser2013=) c.6042C>A (p.Ser2014=) c.5988C>A (p.Ser1996=) c.5880C>A (p.Ser1960=) c.5943C>A (p.Ser1981=) c.5913C>A (p.Ser1971=) c.5985C>A (p.Ser1995=) | gnomAD v4 |
3 | g.38550331G>A | CA352138986 | SCN5A | c.6038C>T (p.Ser2013Phe) c.6041C>T (p.Ser2014Phe) c.5987C>T (p.Ser1996Phe) c.5879C>T (p.Ser1960Phe) c.5942C>T (p.Ser1981Phe) c.5912C>T (p.Ser1971Phe) c.5984C>T (p.Ser1995Phe) | |
3 | g.38550331G>C | CA352138987 | SCN5A | c.6038C>G (p.Ser2013Cys) c.6041C>G (p.Ser2014Cys) c.5987C>G (p.Ser1996Cys) c.5879C>G (p.Ser1960Cys) c.5942C>G (p.Ser1981Cys) c.5912C>G (p.Ser1971Cys) c.5984C>G (p.Ser1995Cys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550331G= | CA1358561701 | SCN5A | c.6038C= (p.Ser2013=) c.6041C= (p.Ser2014=) c.5987C= (p.Ser1996=) c.5879C= (p.Ser1960=) c.5942C= (p.Ser1981=) c.5912C= (p.Ser1971=) c.5984C= (p.Ser1995=) | |
3 | g.38550331G>T | CA352138989 | SCN5A | c.6038C>A (p.Ser2013Tyr) c.6041C>A (p.Ser2014Tyr) c.5987C>A (p.Ser1996Tyr) c.5879C>A (p.Ser1960Tyr) c.5942C>A (p.Ser1981Tyr) c.5912C>A (p.Ser1971Tyr) c.5984C>A (p.Ser1995Tyr) | gnomAD v4 |
3 | g.38550332A>C | CA352138994 | SCN5A | c.6037T>G (p.Ser2013Ala) c.6040T>G (p.Ser2014Ala) c.5986T>G (p.Ser1996Ala) c.5878T>G (p.Ser1960Ala) c.5941T>G (p.Ser1981Ala) c.5911T>G (p.Ser1971Ala) c.5983T>G (p.Ser1995Ala) | |
3 | g.38550332A>G | CA352138990 | SCN5A | c.6037T>C (p.Ser2013Pro) c.6040T>C (p.Ser2014Pro) c.5986T>C (p.Ser1996Pro) c.5878T>C (p.Ser1960Pro) c.5941T>C (p.Ser1981Pro) c.5911T>C (p.Ser1971Pro) c.5983T>C (p.Ser1995Pro) | |
3 | g.38550332A>T | CA352138992 | SCN5A | c.6037T>A (p.Ser2013Thr) c.6040T>A (p.Ser2014Thr) c.5986T>A (p.Ser1996Thr) c.5878T>A (p.Ser1960Thr) c.5941T>A (p.Ser1981Thr) c.5911T>A (p.Ser1971Thr) c.5983T>A (p.Ser1995Thr) | gnomAD v4 |
3 | g.38550333C>A | CA352138995 | SCN5A | c.6036G>T (p.Glu2012Asp) c.6039G>T (p.Glu2013Asp) c.5985G>T (p.Glu1995Asp) c.5877G>T (p.Glu1959Asp) c.5940G>T (p.Glu1980Asp) c.5910G>T (p.Glu1970Asp) c.5982G>T (p.Glu1994Asp) | dbSNP gnomAD v2 |
3 | g.38550333C= | CA1358561702 | SCN5A | c.6036G= (p.Glu2012=) c.6039G= (p.Glu2013=) c.5985G= (p.Glu1995=) c.5877G= (p.Glu1959=) c.5940G= (p.Glu1980=) c.5910G= (p.Glu1970=) c.5982G= (p.Glu1994=) | |
3 | g.38550333C>G | CA352138996 | SCN5A | c.6036G>C (p.Glu2012Asp) c.6039G>C (p.Glu2013Asp) c.5985G>C (p.Glu1995Asp) c.5877G>C (p.Glu1959Asp) c.5940G>C (p.Glu1980Asp) c.5910G>C (p.Glu1970Asp) c.5982G>C (p.Glu1994Asp) | |
3 | g.38550333C>T | CA433134127 | SCN5A | c.6036G>A (p.Glu2012=) c.6039G>A (p.Glu2013=) c.5985G>A (p.Glu1995=) c.5877G>A (p.Glu1959=) c.5940G>A (p.Glu1980=) c.5910G>A (p.Glu1970=) c.5982G>A (p.Glu1994=) | |
3 | g.38550334T>A | CA352138999 | SCN5A | c.6035A>T (p.Glu2012Val) c.6038A>T (p.Glu2013Val) c.5984A>T (p.Glu1995Val) c.5876A>T (p.Glu1959Val) c.5939A>T (p.Glu1980Val) c.5909A>T (p.Glu1970Val) c.5981A>T (p.Glu1994Val) | |
3 | g.38550334T>C | CA352139000 | SCN5A | c.6035A>G (p.Glu2012Gly) c.6038A>G (p.Glu2013Gly) c.5984A>G (p.Glu1995Gly) c.5876A>G (p.Glu1959Gly) c.5939A>G (p.Glu1980Gly) c.5909A>G (p.Glu1970Gly) c.5981A>G (p.Glu1994Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.38550334T>G | CA352139001 | SCN5A | c.6035A>C (p.Glu2012Ala) c.6038A>C (p.Glu2013Ala) c.5984A>C (p.Glu1995Ala) c.5876A>C (p.Glu1959Ala) c.5939A>C (p.Glu1980Ala) c.5909A>C (p.Glu1970Ala) c.5981A>C (p.Glu1994Ala) | |
3 | g.38550334T= | CA1358561703 | SCN5A | c.6035A= (p.Glu2012=) c.6038A= (p.Glu2013=) c.5984A= (p.Glu1995=) c.5876A= (p.Glu1959=) c.5939A= (p.Glu1980=) c.5909A= (p.Glu1970=) c.5981A= (p.Glu1994=) | |
3 | g.38550335C>A | CA352139004 | SCN5A | c.6034G>T (p.Glu2012Ter) c.6037G>T (p.Glu2013Ter) c.5983G>T (p.Glu1995Ter) c.5875G>T (p.Glu1959Ter) c.5938G>T (p.Glu1980Ter) c.5908G>T (p.Glu1970Ter) c.5980G>T (p.Glu1994Ter) | dbSNP gnomAD v4 |
3 | g.38550335C= | CA1358561704 | SCN5A | c.6034G= (p.Glu2012=) c.6037G= (p.Glu2013=) c.5983G= (p.Glu1995=) c.5875G= (p.Glu1959=) c.5938G= (p.Glu1980=) c.5908G= (p.Glu1970=) c.5980G= (p.Glu1994=) | |
3 | g.38550335C>G | CA352139006 | SCN5A | c.6034G>C (p.Glu2012Gln) c.6037G>C (p.Glu2013Gln) c.5983G>C (p.Glu1995Gln) c.5875G>C (p.Glu1959Gln) c.5938G>C (p.Glu1980Gln) c.5908G>C (p.Glu1970Gln) c.5980G>C (p.Glu1994Gln) | |
3 | g.38550335C>T | CA352139005 | SCN5A | c.6034G>A (p.Glu2012Lys) c.6037G>A (p.Glu2013Lys) c.5983G>A (p.Glu1995Lys) c.5875G>A (p.Glu1959Lys) c.5938G>A (p.Glu1980Lys) c.5908G>A (p.Glu1970Lys) c.5980G>A (p.Glu1994Lys) | |
3 | g.38550336A>C | CA433134129 | SCN5A | c.6033T>G (p.Arg2011=) c.6036T>G (p.Arg2012=) c.5982T>G (p.Arg1994=) c.5874T>G (p.Arg1958=) c.5937T>G (p.Arg1979=) c.5907T>G (p.Arg1969=) c.5979T>G (p.Arg1993=) | |
3 | g.38550336A>G | CA433134131 | SCN5A | c.6033T>C (p.Arg2011=) c.6036T>C (p.Arg2012=) c.5982T>C (p.Arg1994=) c.5874T>C (p.Arg1958=) c.5937T>C (p.Arg1979=) c.5907T>C (p.Arg1969=) c.5979T>C (p.Arg1993=) | dbSNP |
3 | g.38550336A>T | CA433134132 | SCN5A | c.6033T>A (p.Arg2011=) c.6036T>A (p.Arg2012=) c.5982T>A (p.Arg1994=) c.5874T>A (p.Arg1958=) c.5937T>A (p.Arg1979=) c.5907T>A (p.Arg1969=) c.5979T>A (p.Arg1993=) | |
3 | g.38550336dup | CA542269464 | SCN5A | c.6033dup (p.Glu2012Ter) c.6036dup (p.Glu2013Ter) c.5982dup (p.Glu1995Ter) c.5874dup (p.Glu1959Ter) c.5937dup (p.Glu1980Ter) c.5907dup (p.Glu1970Ter) c.5979dup (p.Glu1994Ter) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550337C>A | CA352139008 | SCN5A | c.6032G>T (p.Arg2011Leu) c.6035G>T (p.Arg2012Leu) c.5981G>T (p.Arg1994Leu) c.5873G>T (p.Arg1958Leu) c.5936G>T (p.Arg1979Leu) c.5906G>T (p.Arg1969Leu) c.5978G>T (p.Arg1993Leu) | |
3 | g.38550337C= | CA1358561705 | SCN5A | c.6032G= (p.Arg2011=) c.6035G= (p.Arg2012=) c.5981G= (p.Arg1994=) c.5873G= (p.Arg1958=) c.5936G= (p.Arg1979=) c.5906G= (p.Arg1969=) c.5978G= (p.Arg1993=) | |
3 | g.38550337C>G | CA352139010 | SCN5A | c.6032G>C (p.Arg2011Pro) c.6035G>C (p.Arg2012Pro) c.5981G>C (p.Arg1994Pro) c.5873G>C (p.Arg1958Pro) c.5936G>C (p.Arg1979Pro) c.5906G>C (p.Arg1969Pro) c.5978G>C (p.Arg1993Pro) | |
3 | g.38550337C>T | CA065243 | SCN5A | c.6032G>A (p.Arg2011His) c.6035G>A (p.Arg2012His) c.5981G>A (p.Arg1994His) c.5873G>A (p.Arg1958His) c.5936G>A (p.Arg1979His) c.5906G>A (p.Arg1969His) c.5978G>A (p.Arg1993His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550338G>A | CA019612 | SCN5A | c.6031C>T (p.Arg2011Cys) c.6034C>T (p.Arg2012Cys) c.5980C>T (p.Arg1994Cys) c.5872C>T (p.Arg1958Cys) c.5935C>T (p.Arg1979Cys) c.5905C>T (p.Arg1969Cys) c.5977C>T (p.Arg1993Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550338G>C | CA352139015 | SCN5A | c.6031C>G (p.Arg2011Gly) c.6034C>G (p.Arg2012Gly) c.5980C>G (p.Arg1994Gly) c.5872C>G (p.Arg1958Gly) c.5935C>G (p.Arg1979Gly) c.5905C>G (p.Arg1969Gly) c.5977C>G (p.Arg1993Gly) | |
3 | g.38550338G= | CA1358561706 | SCN5A | c.6031C= (p.Arg2011=) c.6034C= (p.Arg2012=) c.5980C= (p.Arg1994=) c.5872C= (p.Arg1958=) c.5935C= (p.Arg1979=) c.5905C= (p.Arg1969=) c.5977C= (p.Arg1993=) | |
3 | g.38550338G>T | CA352139016 | SCN5A | c.6031C>A (p.Arg2011Ser) c.6034C>A (p.Arg2012Ser) c.5980C>A (p.Arg1994Ser) c.5872C>A (p.Arg1958Ser) c.5935C>A (p.Arg1979Ser) c.5905C>A (p.Arg1969Ser) c.5977C>A (p.Arg1993Ser) | gnomAD v4 |
3 | g.38550339G>A | CA433134133 | SCN5A | c.6030C>T (p.Asp2010=) c.6033C>T (p.Asp2011=) c.5979C>T (p.Asp1993=) c.5871C>T (p.Asp1957=) c.5934C>T (p.Asp1978=) c.5904C>T (p.Asp1968=) c.5976C>T (p.Asp1992=) | gnomAD v4 |
3 | g.38550339G>C | CA352139019 | SCN5A | c.6030C>G (p.Asp2010Glu) c.6033C>G (p.Asp2011Glu) c.5979C>G (p.Asp1993Glu) c.5871C>G (p.Asp1957Glu) c.5934C>G (p.Asp1978Glu) c.5904C>G (p.Asp1968Glu) c.5976C>G (p.Asp1992Glu) | |
3 | g.38550339G= | CA1358561707 | SCN5A | c.6030C= (p.Asp2010=) c.6033C= (p.Asp2011=) c.5979C= (p.Asp1993=) c.5871C= (p.Asp1957=) c.5934C= (p.Asp1978=) c.5904C= (p.Asp1968=) c.5976C= (p.Asp1992=) | |
3 | g.38550339G>T | CA10618690 | SCN5A | c.6030C>A (p.Asp2010Glu) c.6033C>A (p.Asp2011Glu) c.5979C>A (p.Asp1993Glu) c.5871C>A (p.Asp1957Glu) c.5934C>A (p.Asp1978Glu) c.5904C>A (p.Asp1968Glu) c.5976C>A (p.Asp1992Glu) | ClinVar dbSNP |
3 | g.38550340T>A | CA352139022 | SCN5A | c.6029A>T (p.Asp2010Val) c.6032A>T (p.Asp2011Val) c.5978A>T (p.Asp1993Val) c.5870A>T (p.Asp1957Val) c.5933A>T (p.Asp1978Val) c.5903A>T (p.Asp1968Val) c.5975A>T (p.Asp1992Val) | |
3 | g.38550340T>C | CA352139024 | SCN5A | c.6029A>G (p.Asp2010Gly) c.6032A>G (p.Asp2011Gly) c.5978A>G (p.Asp1993Gly) c.5870A>G (p.Asp1957Gly) c.5933A>G (p.Asp1978Gly) c.5903A>G (p.Asp1968Gly) c.5975A>G (p.Asp1992Gly) | dbSNP gnomAD v4 |
3 | g.38550340T>G | CA352139026 | SCN5A | c.6029A>C (p.Asp2010Ala) c.6032A>C (p.Asp2011Ala) c.5978A>C (p.Asp1993Ala) c.5870A>C (p.Asp1957Ala) c.5933A>C (p.Asp1978Ala) c.5903A>C (p.Asp1968Ala) c.5975A>C (p.Asp1992Ala) | |
3 | g.38550340T= | CA1358561708 | SCN5A | c.6029A= (p.Asp2010=) c.6032A= (p.Asp2011=) c.5978A= (p.Asp1993=) c.5870A= (p.Asp1957=) c.5933A= (p.Asp1978=) c.5903A= (p.Asp1968=) c.5975A= (p.Asp1992=) | |
3 | g.38550341C>A | CA352139030 | SCN5A | c.6028G>T (p.Asp2010Tyr) c.6031G>T (p.Asp2011Tyr) c.5977G>T (p.Asp1993Tyr) c.5869G>T (p.Asp1957Tyr) c.5932G>T (p.Asp1978Tyr) c.5902G>T (p.Asp1968Tyr) c.5974G>T (p.Asp1992Tyr) | gnomAD v4 |
3 | g.38550341C>G | CA352139029 | SCN5A | c.6028G>C (p.Asp2010His) c.6031G>C (p.Asp2011His) c.5977G>C (p.Asp1993His) c.5869G>C (p.Asp1957His) c.5932G>C (p.Asp1978His) c.5902G>C (p.Asp1968His) c.5974G>C (p.Asp1992His) | |
3 | g.38550341C>T | CA352139028 | SCN5A | c.6028G>A (p.Asp2010Asn) c.6031G>A (p.Asp2011Asn) c.5977G>A (p.Asp1993Asn) c.5869G>A (p.Asp1957Asn) c.5932G>A (p.Asp1978Asn) c.5902G>A (p.Asp1968Asn) c.5974G>A (p.Asp1992Asn) | COSMIC COSMIC COSMIC |
3 | g.38550342C>A | CA352139033 | SCN5A | c.6027G>T (p.Arg2009Ser) c.6030G>T (p.Arg2010Ser) c.5976G>T (p.Arg1992Ser) c.5868G>T (p.Arg1956Ser) c.5931G>T (p.Arg1977Ser) c.5901G>T (p.Arg1967Ser) c.5973G>T (p.Arg1991Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38550342C= | CA1358561709 | SCN5A | c.6027G= (p.Arg2009=) c.6030G= (p.Arg2010=) c.5976G= (p.Arg1992=) c.5868G= (p.Arg1956=) c.5931G= (p.Arg1977=) c.5901G= (p.Arg1967=) c.5973G= (p.Arg1991=) | |
3 | g.38550342C>G | CA352139031 | SCN5A | c.6027G>C (p.Arg2009Ser) c.6030G>C (p.Arg2010Ser) c.5976G>C (p.Arg1992Ser) c.5868G>C (p.Arg1956Ser) c.5931G>C (p.Arg1977Ser) c.5901G>C (p.Arg1967Ser) c.5973G>C (p.Arg1991Ser) | |
3 | g.38550342C>T | CA065231 | SCN5A | c.6027G>A (p.Arg2009=) c.6030G>A (p.Arg2010=) c.5976G>A (p.Arg1992=) c.5868G>A (p.Arg1956=) c.5931G>A (p.Arg1977=) c.5901G>A (p.Arg1967=) c.5973G>A (p.Arg1991=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550343C>A | CA352139036 | SCN5A | c.6026G>T (p.Arg2009Met) c.6029G>T (p.Arg2010Met) c.5975G>T (p.Arg1992Met) c.5867G>T (p.Arg1956Met) c.5930G>T (p.Arg1977Met) c.5900G>T (p.Arg1967Met) c.5972G>T (p.Arg1991Met) | |
3 | g.38550343C>G | CA352139038 | SCN5A | c.6026G>C (p.Arg2009Thr) c.6029G>C (p.Arg2010Thr) c.5975G>C (p.Arg1992Thr) c.5867G>C (p.Arg1956Thr) c.5930G>C (p.Arg1977Thr) c.5900G>C (p.Arg1967Thr) c.5972G>C (p.Arg1991Thr) | gnomAD v4 |
3 | g.38550343C>T | CA352139040 | SCN5A | c.6026G>A (p.Arg2009Lys) c.6029G>A (p.Arg2010Lys) c.5975G>A (p.Arg1992Lys) c.5867G>A (p.Arg1956Lys) c.5930G>A (p.Arg1977Lys) c.5900G>A (p.Arg1967Lys) c.5972G>A (p.Arg1991Lys) | |
3 | g.38550344T>A | CA352139042 | SCN5A | c.6025A>T (p.Arg2009Trp) c.6028A>T (p.Arg2010Trp) c.5974A>T (p.Arg1992Trp) c.5866A>T (p.Arg1956Trp) c.5929A>T (p.Arg1977Trp) c.5899A>T (p.Arg1967Trp) c.5971A>T (p.Arg1991Trp) | |
3 | g.38550344T>C | CA065225 | SCN5A | c.6025A>G (p.Arg2009Gly) c.6028A>G (p.Arg2010Gly) c.5974A>G (p.Arg1992Gly) c.5866A>G (p.Arg1956Gly) c.5929A>G (p.Arg1977Gly) c.5899A>G (p.Arg1967Gly) c.5971A>G (p.Arg1991Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550344T>G | CA433134138 | SCN5A | c.6025A>C (p.Arg2009=) c.6028A>C (p.Arg2010=) c.5974A>C (p.Arg1992=) c.5866A>C (p.Arg1956=) c.5929A>C (p.Arg1977=) c.5899A>C (p.Arg1967=) c.5971A>C (p.Arg1991=) | gnomAD v4 |
3 | g.38550344T= | CA1358561710 | SCN5A | c.6025A= (p.Arg2009=) c.6028A= (p.Arg2010=) c.5974A= (p.Arg1992=) c.5866A= (p.Arg1956=) c.5929A= (p.Arg1977=) c.5899A= (p.Arg1967=) c.5971A= (p.Arg1991=) | |
3 | g.38550344_38550345insTTTTTTAAT | CA1047007107 | SCN5A | c.6025_6026insTTAAAAAAA (p.Asp2008_Arg2009insIleLysLys) c.6028_6029insTTAAAAAAA (p.Asp2009_Arg2010insIleLysLys) c.5974_5975insTTAAAAAAA (p.Asp1991_Arg1992insIleLysLys) c.5866_5867insTTAAAAAAA (p.Asp1955_Arg1956insIleLysLys) c.5929_5930insTTAAAAAAA (p.Asp1976_Arg1977insIleLysLys) c.5899_5900insTTAAAAAAA (p.Asp1966_Arg1967insIleLysLys) c.5971_5972insTTAAAAAAA (p.Asp1990_Arg1991insIleLysLys) | gnomAD v3 gnomAD v4 |
3 | g.38550345G>A | CA433134139 | SCN5A | c.6024C>T (p.Asp2008=) c.6027C>T (p.Asp2009=) c.5973C>T (p.Asp1991=) c.5865C>T (p.Asp1955=) c.5928C>T (p.Asp1976=) c.5898C>T (p.Asp1966=) c.5970C>T (p.Asp1990=) | |
3 | g.38550345G>C | CA065218 | SCN5A | c.6024C>G (p.Asp2008Glu) c.6027C>G (p.Asp2009Glu) c.5973C>G (p.Asp1991Glu) c.5865C>G (p.Asp1955Glu) c.5928C>G (p.Asp1976Glu) c.5898C>G (p.Asp1966Glu) c.5970C>G (p.Asp1990Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550345G= | CA1358561711 | SCN5A | c.6024C= (p.Asp2008=) c.6027C= (p.Asp2009=) c.5973C= (p.Asp1991=) c.5865C= (p.Asp1955=) c.5928C= (p.Asp1976=) c.5898C= (p.Asp1966=) c.5970C= (p.Asp1990=) | |
3 | g.38550345G>T | CA352139043 | SCN5A | c.6024C>A (p.Asp2008Glu) c.6027C>A (p.Asp2009Glu) c.5973C>A (p.Asp1991Glu) c.5865C>A (p.Asp1955Glu) c.5928C>A (p.Asp1976Glu) c.5898C>A (p.Asp1966Glu) c.5970C>A (p.Asp1990Glu) | gnomAD v4 |
3 | g.38550345_38550346insA | CA1047007112 | SCN5A | c.6023_6024insT (p.Arg2009GlnfsTer4) c.6026_6027insT (p.Arg2010GlnfsTer4) c.5972_5973insT (p.Arg1992GlnfsTer4) c.5864_5865insT (p.Arg1956GlnfsTer4) c.5927_5928insT (p.Arg1977GlnfsTer4) c.5897_5898insT (p.Arg1967GlnfsTer4) c.5969_5970insT (p.Arg1991GlnfsTer4) | gnomAD v3 gnomAD v4 |
3 | g.38550346T>A | CA352139046 | SCN5A | c.6023A>T (p.Asp2008Val) c.6026A>T (p.Asp2009Val) c.5972A>T (p.Asp1991Val) c.5864A>T (p.Asp1955Val) c.5927A>T (p.Asp1976Val) c.5897A>T (p.Asp1966Val) c.5969A>T (p.Asp1990Val) | |
3 | g.38550346T>C | CA352139048 | SCN5A | c.6023A>G (p.Asp2008Gly) c.6026A>G (p.Asp2009Gly) c.5972A>G (p.Asp1991Gly) c.5864A>G (p.Asp1955Gly) c.5927A>G (p.Asp1976Gly) c.5897A>G (p.Asp1966Gly) c.5969A>G (p.Asp1990Gly) | |
3 | g.38550346T>G | CA352139049 | SCN5A | c.6023A>C (p.Asp2008Ala) c.6026A>C (p.Asp2009Ala) c.5972A>C (p.Asp1991Ala) c.5864A>C (p.Asp1955Ala) c.5927A>C (p.Asp1976Ala) c.5897A>C (p.Asp1966Ala) c.5969A>C (p.Asp1990Ala) | |
3 | g.38550347C>A | CA352139052 | SCN5A | c.6022G>T (p.Asp2008Tyr) c.6025G>T (p.Asp2009Tyr) c.5971G>T (p.Asp1991Tyr) c.5863G>T (p.Asp1955Tyr) c.5926G>T (p.Asp1976Tyr) c.5896G>T (p.Asp1966Tyr) c.5968G>T (p.Asp1990Tyr) | gnomAD v3 gnomAD v4 |
3 | g.38550347C>G | CA352139054 | SCN5A | c.6022G>C (p.Asp2008His) c.6025G>C (p.Asp2009His) c.5971G>C (p.Asp1991His) c.5863G>C (p.Asp1955His) c.5926G>C (p.Asp1976His) c.5896G>C (p.Asp1966His) c.5968G>C (p.Asp1990His) | |
3 | g.38550347C>T | CA352139055 | SCN5A | c.6022G>A (p.Asp2008Asn) c.6025G>A (p.Asp2009Asn) c.5971G>A (p.Asp1991Asn) c.5863G>A (p.Asp1955Asn) c.5926G>A (p.Asp1976Asn) c.5896G>A (p.Asp1966Asn) c.5968G>A (p.Asp1990Asn) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550348C>A | CA433134142 | SCN5A | c.6021G>T (p.Pro2007=) c.6024G>T (p.Pro2008=) c.5970G>T (p.Pro1990=) c.5862G>T (p.Pro1954=) c.5925G>T (p.Pro1975=) c.5895G>T (p.Pro1965=) c.5967G>T (p.Pro1989=) | gnomAD v4 |
3 | g.38550348C= | CA1358561712 | SCN5A | c.6021G= (p.Pro2007=) c.6024G= (p.Pro2008=) c.5970G= (p.Pro1990=) c.5862G= (p.Pro1954=) c.5925G= (p.Pro1975=) c.5895G= (p.Pro1965=) c.5967G= (p.Pro1989=) | |
3 | g.38550348C>G | CA433134143 | SCN5A | c.6021G>C (p.Pro2007=) c.6024G>C (p.Pro2008=) c.5970G>C (p.Pro1990=) c.5862G>C (p.Pro1954=) c.5925G>C (p.Pro1975=) c.5895G>C (p.Pro1965=) c.5967G>C (p.Pro1989=) | ClinVar |
3 | g.38550348C>T | CA065213 | SCN5A | c.6021G>A (p.Pro2007=) c.6024G>A (p.Pro2008=) c.5970G>A (p.Pro1990=) c.5862G>A (p.Pro1954=) c.5925G>A (p.Pro1975=) c.5895G>A (p.Pro1965=) c.5967G>A (p.Pro1989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550349G>A | CA065208 | SCN5A | c.6020C>T (p.Pro2007Leu) c.6023C>T (p.Pro2008Leu) c.5969C>T (p.Pro1990Leu) c.5861C>T (p.Pro1954Leu) c.5924C>T (p.Pro1975Leu) c.5894C>T (p.Pro1965Leu) c.5966C>T (p.Pro1989Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550349G>C | CA352139060 | SCN5A | c.6020C>G (p.Pro2007Arg) c.6023C>G (p.Pro2008Arg) c.5969C>G (p.Pro1990Arg) c.5861C>G (p.Pro1954Arg) c.5924C>G (p.Pro1975Arg) c.5894C>G (p.Pro1965Arg) c.5966C>G (p.Pro1989Arg) | |
3 | g.38550349G= | CA1358561713 | SCN5A | c.6020C= (p.Pro2007=) c.6023C= (p.Pro2008=) c.5969C= (p.Pro1990=) c.5861C= (p.Pro1954=) c.5924C= (p.Pro1975=) c.5894C= (p.Pro1965=) c.5966C= (p.Pro1989=) | |
3 | g.38550349G>T | CA352139061 | SCN5A | c.6020C>A (p.Pro2007Gln) c.6023C>A (p.Pro2008Gln) c.5969C>A (p.Pro1990Gln) c.5861C>A (p.Pro1954Gln) c.5924C>A (p.Pro1975Gln) c.5894C>A (p.Pro1965Gln) c.5966C>A (p.Pro1989Gln) | |
3 | g.38550350G>A | CA352139064 | SCN5A | c.6019C>T (p.Pro2007Ser) c.6022C>T (p.Pro2008Ser) c.5968C>T (p.Pro1990Ser) c.5860C>T (p.Pro1954Ser) c.5923C>T (p.Pro1975Ser) c.5893C>T (p.Pro1965Ser) c.5965C>T (p.Pro1989Ser) | |
3 | g.38550350G>C | CA352139066 | SCN5A | c.6019C>G (p.Pro2007Ala) c.6022C>G (p.Pro2008Ala) c.5968C>G (p.Pro1990Ala) c.5860C>G (p.Pro1954Ala) c.5923C>G (p.Pro1975Ala) c.5893C>G (p.Pro1965Ala) c.5965C>G (p.Pro1989Ala) | |
3 | g.38550350G>T | CA352139067 | SCN5A | c.6019C>A (p.Pro2007Thr) c.6022C>A (p.Pro2008Thr) c.5968C>A (p.Pro1990Thr) c.5860C>A (p.Pro1954Thr) c.5923C>A (p.Pro1975Thr) c.5893C>A (p.Pro1965Thr) c.5965C>A (p.Pro1989Thr) | |
3 | g.38550351A>C | CA433134145 | SCN5A | c.6018T>G (p.Ser2006=) c.6021T>G (p.Ser2007=) c.5967T>G (p.Ser1989=) c.5859T>G (p.Ser1953=) c.5922T>G (p.Ser1974=) c.5892T>G (p.Ser1964=) c.5964T>G (p.Ser1988=) | gnomAD v3 gnomAD v4 |
3 | g.38550351A>G | CA433134146 | SCN5A | c.6018T>C (p.Ser2006=) c.6021T>C (p.Ser2007=) c.5967T>C (p.Ser1989=) c.5859T>C (p.Ser1953=) c.5922T>C (p.Ser1974=) c.5892T>C (p.Ser1964=) c.5964T>C (p.Ser1988=) | gnomAD v4 |
3 | g.38550351A>T | CA433134147 | SCN5A | c.6018T>A (p.Ser2006=) c.6021T>A (p.Ser2007=) c.5967T>A (p.Ser1989=) c.5859T>A (p.Ser1953=) c.5922T>A (p.Ser1974=) c.5892T>A (p.Ser1964=) c.5964T>A (p.Ser1988=) | |
3 | g.38550352G>A | CA352139069 | SCN5A | c.6017C>T (p.Ser2006Phe) c.6020C>T (p.Ser2007Phe) c.5966C>T (p.Ser1989Phe) c.5858C>T (p.Ser1953Phe) c.5921C>T (p.Ser1974Phe) c.5891C>T (p.Ser1964Phe) c.5963C>T (p.Ser1988Phe) | |
3 | g.38550352G>C | CA352139071 | SCN5A | c.6017C>G (p.Ser2006Cys) c.6020C>G (p.Ser2007Cys) c.5966C>G (p.Ser1989Cys) c.5858C>G (p.Ser1953Cys) c.5921C>G (p.Ser1974Cys) c.5891C>G (p.Ser1964Cys) c.5963C>G (p.Ser1988Cys) | |
3 | g.38550352G>T | CA352139072 | SCN5A | c.6017C>A (p.Ser2006Tyr) c.6020C>A (p.Ser2007Tyr) c.5966C>A (p.Ser1989Tyr) c.5858C>A (p.Ser1953Tyr) c.5921C>A (p.Ser1974Tyr) c.5891C>A (p.Ser1964Tyr) c.5963C>A (p.Ser1988Tyr) | gnomAD v4 |
3 | g.38550353A>C | CA352139074 | SCN5A | c.6016T>G (p.Ser2006Ala) c.6019T>G (p.Ser2007Ala) c.5965T>G (p.Ser1989Ala) c.5857T>G (p.Ser1953Ala) c.5920T>G (p.Ser1974Ala) c.5890T>G (p.Ser1964Ala) c.5962T>G (p.Ser1988Ala) | gnomAD v4 |
3 | g.38550353A>G | CA352139076 | SCN5A | c.6016T>C (p.Ser2006Pro) c.6019T>C (p.Ser2007Pro) c.5965T>C (p.Ser1989Pro) c.5857T>C (p.Ser1953Pro) c.5920T>C (p.Ser1974Pro) c.5890T>C (p.Ser1964Pro) c.5962T>C (p.Ser1988Pro) | |
3 | g.38550353A>T | CA352139077 | SCN5A | c.6016T>A (p.Ser2006Thr) c.6019T>A (p.Ser2007Thr) c.5965T>A (p.Ser1989Thr) c.5857T>A (p.Ser1953Thr) c.5920T>A (p.Ser1974Thr) c.5890T>A (p.Ser1964Thr) c.5962T>A (p.Ser1988Thr) | gnomAD v4 |
3 | g.38550353_38550354insCC | CA1047007121 | SCN5A | c.6015_6016insGG (p.Ser2006GlyfsTer?) c.6018_6019insGG (p.Ser2007GlyfsTer?) c.5964_5965insGG (p.Ser1989GlyfsTer?) c.5856_5857insGG (p.Ser1953GlyfsTer?) c.5919_5920insGG (p.Ser1974GlyfsTer?) c.5889_5890insGG (p.Ser1964GlyfsTer?) c.5961_5962insGG (p.Ser1988GlyfsTer?) | gnomAD v3 gnomAD v4 |
3 | g.38550354A= | CA1358561715 | SCN5A | c.6015T= (p.Pro2005=) c.6018T= (p.Pro2006=) c.5964T= (p.Pro1988=) c.5856T= (p.Pro1952=) c.5919T= (p.Pro1973=) c.5889T= (p.Pro1963=) c.5961T= (p.Pro1987=) | |
3 | g.38550354A>C | CA433134149 | SCN5A | c.6015T>G (p.Pro2005=) c.6018T>G (p.Pro2006=) c.5964T>G (p.Pro1988=) c.5856T>G (p.Pro1952=) c.5919T>G (p.Pro1973=) c.5889T>G (p.Pro1963=) c.5961T>G (p.Pro1987=) | |
3 | g.38550354A>G | CA433134151 | SCN5A | c.6015T>C (p.Pro2005=) c.6018T>C (p.Pro2006=) c.5964T>C (p.Pro1988=) c.5856T>C (p.Pro1952=) c.5919T>C (p.Pro1973=) c.5889T>C (p.Pro1963=) c.5961T>C (p.Pro1987=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550354A>T | CA433134153 | SCN5A | c.6015T>A (p.Pro2005=) c.6018T>A (p.Pro2006=) c.5964T>A (p.Pro1988=) c.5856T>A (p.Pro1952=) c.5919T>A (p.Pro1973=) c.5889T>A (p.Pro1963=) c.5961T>A (p.Pro1987=) | |
3 | g.38550354_38550357delinsAGGG | CA1358561714 | SCN5A | c.6012_6015delinsCCCT (p.Pro2004=) c.6015_6018delinsCCCT (p.Pro2005=) c.5961_5964delinsCCCT (p.Pro1987=) c.5853_5856delinsCCCT (p.Pro1951=) c.5916_5919delinsCCCT (p.Pro1972=) c.5886_5889delinsCCCT (p.Pro1962=) c.5958_5961delinsCCCT (p.Pro1986=) | |
3 | g.38550355G>A | CA019607 | SCN5A | c.6014C>T (p.Pro2005Leu) c.6017C>T (p.Pro2006Leu) c.5963C>T (p.Pro1988Leu) c.5855C>T (p.Pro1952Leu) c.5918C>T (p.Pro1973Leu) c.5888C>T (p.Pro1963Leu) c.5960C>T (p.Pro1987Leu) | ClinVar dbSNP |
3 | g.38550355G>C | CA019601 | SCN5A | c.6014C>G (p.Pro2005Arg) c.6017C>G (p.Pro2006Arg) c.5963C>G (p.Pro1988Arg) c.5855C>G (p.Pro1952Arg) c.5918C>G (p.Pro1973Arg) c.5888C>G (p.Pro1963Arg) c.5960C>G (p.Pro1987Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550355G= | CA1358561716 | SCN5A | c.6014C= (p.Pro2005=) c.6017C= (p.Pro2006=) c.5963C= (p.Pro1988=) c.5855C= (p.Pro1952=) c.5918C= (p.Pro1973=) c.5888C= (p.Pro1963=) c.5960C= (p.Pro1987=) | |
3 | g.38550355G>T | CA352139080 | SCN5A | c.6014C>A (p.Pro2005His) c.6017C>A (p.Pro2006His) c.5963C>A (p.Pro1988His) c.5855C>A (p.Pro1952His) c.5918C>A (p.Pro1973His) c.5888C>A (p.Pro1963His) c.5960C>A (p.Pro1987His) | gnomAD v4 |
3 | g.38550360dup | CA2319532 | SCN5A | c.6014dup (p.Ser2006PhefsTer7) c.6017dup (p.Ser2007PhefsTer7) c.5963dup (p.Ser1989PhefsTer7) c.5855dup (p.Ser1953PhefsTer7) c.5918dup (p.Ser1974PhefsTer7) c.5888dup (p.Ser1964PhefsTer7) c.5960dup (p.Ser1988PhefsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550360del | CA542269469 | SCN5A | c.6014del (p.Pro2005LeufsTer?) c.6017del (p.Pro2006LeufsTer?) c.5963del (p.Pro1988LeufsTer?) c.5855del (p.Pro1952LeufsTer?) c.5918del (p.Pro1973LeufsTer?) c.5888del (p.Pro1963LeufsTer?) c.5960del (p.Pro1987LeufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550358_38550360del | CA542269470 | SCN5A | c.6012_6014del (p.Pro2005del) c.6015_6017del (p.Pro2006del) c.5961_5963del (p.Pro1988del) c.5853_5855del (p.Pro1952del) c.5916_5918del (p.Pro1973del) c.5886_5888del (p.Pro1963del) c.5958_5960del (p.Pro1987del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550355_38550364del | CA1047007129 | SCN5A | c.6005_6014del (p.Asp2002ValfsTer?) c.6008_6017del (p.Asp2003ValfsTer?) c.5954_5963del (p.Asp1985ValfsTer?) c.5846_5855del (p.Asp1949ValfsTer?) c.5909_5918del (p.Asp1970ValfsTer?) c.5879_5888del (p.Asp1960ValfsTer?) c.5951_5960del (p.Asp1984ValfsTer?) | gnomAD v3 gnomAD v4 |
3 | g.38550356G>A | CA352139085 | SCN5A | c.6013C>T (p.Pro2005Ser) c.6016C>T (p.Pro2006Ser) c.5962C>T (p.Pro1988Ser) c.5854C>T (p.Pro1952Ser) c.5917C>T (p.Pro1973Ser) c.5887C>T (p.Pro1963Ser) c.5959C>T (p.Pro1987Ser) | |
3 | g.38550356G>C | CA019597 | SCN5A | c.6013C>G (p.Pro2005Ala) c.6016C>G (p.Pro2006Ala) c.5962C>G (p.Pro1988Ala) c.5854C>G (p.Pro1952Ala) c.5917C>G (p.Pro1973Ala) c.5887C>G (p.Pro1963Ala) c.5959C>G (p.Pro1987Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550356G= | CA1358561717 | SCN5A | c.6013C= (p.Pro2005=) c.6016C= (p.Pro2006=) c.5962C= (p.Pro1988=) c.5854C= (p.Pro1952=) c.5917C= (p.Pro1973=) c.5887C= (p.Pro1963=) c.5959C= (p.Pro1987=) | |
3 | g.38550356G>T | CA352139087 | SCN5A | c.6013C>A (p.Pro2005Thr) c.6016C>A (p.Pro2006Thr) c.5962C>A (p.Pro1988Thr) c.5854C>A (p.Pro1952Thr) c.5917C>A (p.Pro1973Thr) c.5887C>A (p.Pro1963Thr) c.5959C>A (p.Pro1987Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550357G>A | CA433134156 | SCN5A | c.6012C>T (p.Pro2004=) c.6015C>T (p.Pro2005=) c.5961C>T (p.Pro1987=) c.5853C>T (p.Pro1951=) c.5916C>T (p.Pro1972=) c.5886C>T (p.Pro1962=) c.5958C>T (p.Pro1986=) | ClinVar dbSNP gnomAD v4 |
3 | g.38550357G>C | CA433134157 | SCN5A | c.6012C>G (p.Pro2004=) c.6015C>G (p.Pro2005=) c.5961C>G (p.Pro1987=) c.5853C>G (p.Pro1951=) c.5916C>G (p.Pro1972=) c.5886C>G (p.Pro1962=) c.5958C>G (p.Pro1986=) | |
3 | g.38550357G>T | CA433134158 | SCN5A | c.6012C>A (p.Pro2004=) c.6015C>A (p.Pro2005=) c.5961C>A (p.Pro1987=) c.5853C>A (p.Pro1951=) c.5916C>A (p.Pro1972=) c.5886C>A (p.Pro1962=) c.5958C>A (p.Pro1986=) | |
3 | g.38550358G>A | CA019593 | SCN5A | c.6011C>T (p.Pro2004Leu) c.6014C>T (p.Pro2005Leu) c.5960C>T (p.Pro1987Leu) c.5852C>T (p.Pro1951Leu) c.5915C>T (p.Pro1972Leu) c.5885C>T (p.Pro1962Leu) c.5957C>T (p.Pro1986Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550358G>C | CA352139089 | SCN5A | c.6011C>G (p.Pro2004Arg) c.6014C>G (p.Pro2005Arg) c.5960C>G (p.Pro1987Arg) c.5852C>G (p.Pro1951Arg) c.5915C>G (p.Pro1972Arg) c.5885C>G (p.Pro1962Arg) c.5957C>G (p.Pro1986Arg) | |
3 | g.38550358G= | CA1358561718 | SCN5A | c.6011C= (p.Pro2004=) c.6014C= (p.Pro2005=) c.5960C= (p.Pro1987=) c.5852C= (p.Pro1951=) c.5915C= (p.Pro1972=) c.5885C= (p.Pro1962=) c.5957C= (p.Pro1986=) | |
3 | g.38550358G>T | CA352139090 | SCN5A | c.6011C>A (p.Pro2004His) c.6014C>A (p.Pro2005His) c.5960C>A (p.Pro1987His) c.5852C>A (p.Pro1951His) c.5915C>A (p.Pro1972His) c.5885C>A (p.Pro1962His) c.5957C>A (p.Pro1986His) | ClinVar dbSNP |
3 | g.38550359G>A | CA065192 | SCN5A | c.6010C>T (p.Pro2004Ser) c.6013C>T (p.Pro2005Ser) c.5959C>T (p.Pro1987Ser) c.5851C>T (p.Pro1951Ser) c.5914C>T (p.Pro1972Ser) c.5884C>T (p.Pro1962Ser) c.5956C>T (p.Pro1986Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550359G>C | CA019590 | SCN5A | c.6010C>G (p.Pro2004Ala) c.6013C>G (p.Pro2005Ala) c.5959C>G (p.Pro1987Ala) c.5851C>G (p.Pro1951Ala) c.5914C>G (p.Pro1972Ala) c.5884C>G (p.Pro1962Ala) c.5956C>G (p.Pro1986Ala) | ClinVar dbSNP |
3 | g.38550359G= | CA1358561719 | SCN5A | c.6010C= (p.Pro2004=) c.6013C= (p.Pro2005=) c.5959C= (p.Pro1987=) c.5851C= (p.Pro1951=) c.5914C= (p.Pro1972=) c.5884C= (p.Pro1962=) c.5956C= (p.Pro1986=) | |
3 | g.38550359G>T | CA352139093 | SCN5A | c.6010C>A (p.Pro2004Thr) c.6013C>A (p.Pro2005Thr) c.5959C>A (p.Pro1987Thr) c.5851C>A (p.Pro1951Thr) c.5914C>A (p.Pro1972Thr) c.5884C>A (p.Pro1962Thr) c.5956C>A (p.Pro1986Thr) | |
3 | g.38550360G>A | CA433134159 | SCN5A | c.6009C>T (p.Phe2003=) c.6012C>T (p.Phe2004=) c.5958C>T (p.Phe1986=) c.5850C>T (p.Phe1950=) c.5913C>T (p.Phe1971=) c.5883C>T (p.Phe1961=) c.5955C>T (p.Phe1985=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38550360G>C | CA065185 | SCN5A | c.6009C>G (p.Phe2003Leu) c.6012C>G (p.Phe2004Leu) c.5958C>G (p.Phe1986Leu) c.5850C>G (p.Phe1950Leu) c.5913C>G (p.Phe1971Leu) c.5883C>G (p.Phe1961Leu) c.5955C>G (p.Phe1985Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550360G= | CA1358561720 | SCN5A | c.6009C= (p.Phe2003=) c.6012C= (p.Phe2004=) c.5958C= (p.Phe1986=) c.5850C= (p.Phe1950=) c.5913C= (p.Phe1971=) c.5883C= (p.Phe1961=) c.5955C= (p.Phe1985=) | |
3 | g.38550360G>T | CA352139097 | SCN5A | c.6009C>A (p.Phe2003Leu) c.6012C>A (p.Phe2004Leu) c.5958C>A (p.Phe1986Leu) c.5850C>A (p.Phe1950Leu) c.5913C>A (p.Phe1971Leu) c.5883C>A (p.Phe1961Leu) c.5955C>A (p.Phe1985Leu) | |
3 | g.38550361_38550363dup | CA2586965711 | SCN5A | c.6007_6009dup (p.Phe2003_Pro2004insPhe) c.6010_6012dup (p.Phe2004_Pro2005insPhe) c.5956_5958dup (p.Phe1986_Pro1987insPhe) c.5848_5850dup (p.Phe1950_Pro1951insPhe) c.5911_5913dup (p.Phe1971_Pro1972insPhe) c.5881_5883dup (p.Phe1961_Pro1962insPhe) c.5953_5955dup (p.Phe1985_Pro1986insPhe) | |
3 | g.38550361A= | CA1358561721 | SCN5A | c.6008T= (p.Phe2003=) c.6011T= (p.Phe2004=) c.5957T= (p.Phe1986=) c.5849T= (p.Phe1950=) c.5912T= (p.Phe1971=) c.5882T= (p.Phe1961=) c.5954T= (p.Phe1985=) | |
3 | g.38550361A>C | CA352139099 | SCN5A | c.6008T>G (p.Phe2003Cys) c.6011T>G (p.Phe2004Cys) c.5957T>G (p.Phe1986Cys) c.5849T>G (p.Phe1950Cys) c.5912T>G (p.Phe1971Cys) c.5882T>G (p.Phe1961Cys) c.5954T>G (p.Phe1985Cys) | ClinVar |
3 | g.38550361A>G | CA019586 | SCN5A | c.6008T>C (p.Phe2003Ser) c.6011T>C (p.Phe2004Ser) c.5957T>C (p.Phe1986Ser) c.5849T>C (p.Phe1950Ser) c.5912T>C (p.Phe1971Ser) c.5882T>C (p.Phe1961Ser) c.5954T>C (p.Phe1985Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38550361A>T | CA352139102 | SCN5A | c.6008T>A (p.Phe2003Tyr) c.6011T>A (p.Phe2004Tyr) c.5957T>A (p.Phe1986Tyr) c.5849T>A (p.Phe1950Tyr) c.5912T>A (p.Phe1971Tyr) c.5882T>A (p.Phe1961Tyr) c.5954T>A (p.Phe1985Tyr) | |
3 | g.38550362A= | CA1358561722 | SCN5A | c.6007T= (p.Phe2003=) c.6010T= (p.Phe2004=) c.5956T= (p.Phe1986=) c.5848T= (p.Phe1950=) c.5911T= (p.Phe1971=) c.5881T= (p.Phe1961=) c.5953T= (p.Phe1985=) | |
3 | g.38550362A>C | CA019582 | SCN5A | c.6007T>G (p.Phe2003Val) c.6010T>G (p.Phe2004Val) c.5956T>G (p.Phe1986Val) c.5848T>G (p.Phe1950Val) c.5911T>G (p.Phe1971Val) c.5881T>G (p.Phe1961Val) c.5953T>G (p.Phe1985Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550362A>G | CA019578 | SCN5A | c.6007T>C (p.Phe2003Leu) c.6010T>C (p.Phe2004Leu) c.5956T>C (p.Phe1986Leu) c.5848T>C (p.Phe1950Leu) c.5911T>C (p.Phe1971Leu) c.5881T>C (p.Phe1961Leu) c.5953T>C (p.Phe1985Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550362A>T | CA065172 | SCN5A | c.6007T>A (p.Phe2003Ile) c.6010T>A (p.Phe2004Ile) c.5956T>A (p.Phe1986Ile) c.5848T>A (p.Phe1950Ile) c.5911T>A (p.Phe1971Ile) c.5881T>A (p.Phe1961Ile) c.5953T>A (p.Phe1985Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550363G>A | CA433134162 | SCN5A | c.6006C>T (p.Asp2002=) c.6009C>T (p.Asp2003=) c.5955C>T (p.Asp1985=) c.5847C>T (p.Asp1949=) c.5910C>T (p.Asp1970=) c.5880C>T (p.Asp1960=) c.5952C>T (p.Asp1984=) | dbSNP gnomAD v4 |
3 | g.38550363G>C | CA352139106 | SCN5A | c.6006C>G (p.Asp2002Glu) c.6009C>G (p.Asp2003Glu) c.5955C>G (p.Asp1985Glu) c.5847C>G (p.Asp1949Glu) c.5910C>G (p.Asp1970Glu) c.5880C>G (p.Asp1960Glu) c.5952C>G (p.Asp1984Glu) | |
3 | g.38550363G= | CA1358561723 | SCN5A | c.6006C= (p.Asp2002=) c.6009C= (p.Asp2003=) c.5955C= (p.Asp1985=) c.5847C= (p.Asp1949=) c.5910C= (p.Asp1970=) c.5880C= (p.Asp1960=) c.5952C= (p.Asp1984=) | |
3 | g.38550363G>T | CA352139107 | SCN5A | c.6006C>A (p.Asp2002Glu) c.6009C>A (p.Asp2003Glu) c.5955C>A (p.Asp1985Glu) c.5847C>A (p.Asp1949Glu) c.5910C>A (p.Asp1970Glu) c.5880C>A (p.Asp1960Glu) c.5952C>A (p.Asp1984Glu) | |
3 | g.38550364T>A | CA352139110 | SCN5A | c.6005A>T (p.Asp2002Val) c.6008A>T (p.Asp2003Val) c.5954A>T (p.Asp1985Val) c.5846A>T (p.Asp1949Val) c.5909A>T (p.Asp1970Val) c.5879A>T (p.Asp1960Val) c.5951A>T (p.Asp1984Val) | |
3 | g.38550364T>C | CA352139111 | SCN5A | c.6005A>G (p.Asp2002Gly) c.6008A>G (p.Asp2003Gly) c.5954A>G (p.Asp1985Gly) c.5846A>G (p.Asp1949Gly) c.5909A>G (p.Asp1970Gly) c.5879A>G (p.Asp1960Gly) c.5951A>G (p.Asp1984Gly) | |
3 | g.38550364T>G | CA352139113 | SCN5A | c.6005A>C (p.Asp2002Ala) c.6008A>C (p.Asp2003Ala) c.5954A>C (p.Asp1985Ala) c.5846A>C (p.Asp1949Ala) c.5909A>C (p.Asp1970Ala) c.5879A>C (p.Asp1960Ala) c.5951A>C (p.Asp1984Ala) | |
3 | g.38550365C>A | CA352139115 | SCN5A | c.6004G>T (p.Asp2002Tyr) c.6007G>T (p.Asp2003Tyr) c.5953G>T (p.Asp1985Tyr) c.5845G>T (p.Asp1949Tyr) c.5908G>T (p.Asp1970Tyr) c.5878G>T (p.Asp1960Tyr) c.5950G>T (p.Asp1984Tyr) | gnomAD v4 |
3 | g.38550365C= | CA1358561724 | SCN5A | c.6004G= (p.Asp2002=) c.6007G= (p.Asp2003=) c.5953G= (p.Asp1985=) c.5845G= (p.Asp1949=) c.5908G= (p.Asp1970=) c.5878G= (p.Asp1960=) c.5950G= (p.Asp1984=) | |
3 | g.38550365C>G | CA352139117 | SCN5A | c.6004G>C (p.Asp2002His) c.6007G>C (p.Asp2003His) c.5953G>C (p.Asp1985His) c.5845G>C (p.Asp1949His) c.5908G>C (p.Asp1970His) c.5878G>C (p.Asp1960His) c.5950G>C (p.Asp1984His) | gnomAD v4 |
3 | g.38550365C>T | CA065167 | SCN5A | c.6004G>A (p.Asp2002Asn) c.6007G>A (p.Asp2003Asn) c.5953G>A (p.Asp1985Asn) c.5845G>A (p.Asp1949Asn) c.5908G>A (p.Asp1970Asn) c.5878G>A (p.Asp1960Asn) c.5950G>A (p.Asp1984Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550366G>A | CA065162 | SCN5A | c.6003C>T (p.Ala2001=) c.6006C>T (p.Ala2002=) c.5952C>T (p.Ala1984=) c.5844C>T (p.Ala1948=) c.5907C>T (p.Ala1969=) c.5877C>T (p.Ala1959=) c.5949C>T (p.Ala1983=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550366G>C | CA433134166 | SCN5A | c.6003C>G (p.Ala2001=) c.6006C>G (p.Ala2002=) c.5952C>G (p.Ala1984=) c.5844C>G (p.Ala1948=) c.5907C>G (p.Ala1969=) c.5877C>G (p.Ala1959=) c.5949C>G (p.Ala1983=) | |
3 | g.38550366G= | CA1358561725 | SCN5A | c.6003C= (p.Ala2001=) c.6006C= (p.Ala2002=) c.5952C= (p.Ala1984=) c.5844C= (p.Ala1948=) c.5907C= (p.Ala1969=) c.5877C= (p.Ala1959=) c.5949C= (p.Ala1983=) | |
3 | g.38550366G>T | CA433134167 | SCN5A | c.6003C>A (p.Ala2001=) c.6006C>A (p.Ala2002=) c.5952C>A (p.Ala1984=) c.5844C>A (p.Ala1948=) c.5907C>A (p.Ala1969=) c.5877C>A (p.Ala1959=) c.5949C>A (p.Ala1983=) | ClinVar COSMIC COSMIC COSMIC |
3 | g.38550366_38550367del | CA1047007147 | SCN5A | c.6002_6003del (p.Ala2001GlyfsTer11) c.6005_6006del (p.Ala2002GlyfsTer11) c.5951_5952del (p.Ala1984GlyfsTer11) c.5843_5844del (p.Ala1948GlyfsTer11) c.5906_5907del (p.Ala1969GlyfsTer11) c.5876_5877del (p.Ala1959GlyfsTer11) c.5948_5949del (p.Ala1983GlyfsTer11) | gnomAD v3 gnomAD v4 |
3 | g.38550367G>A | CA352139121 | SCN5A | c.6002C>T (p.Ala2001Val) c.6005C>T (p.Ala2002Val) c.5951C>T (p.Ala1984Val) c.5843C>T (p.Ala1948Val) c.5906C>T (p.Ala1969Val) c.5876C>T (p.Ala1959Val) c.5948C>T (p.Ala1983Val) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550367G>C | CA352139122 | SCN5A | c.6002C>G (p.Ala2001Gly) c.6005C>G (p.Ala2002Gly) c.5951C>G (p.Ala1984Gly) c.5843C>G (p.Ala1948Gly) c.5906C>G (p.Ala1969Gly) c.5876C>G (p.Ala1959Gly) c.5948C>G (p.Ala1983Gly) | |
3 | g.38550367G>T | CA352139124 | SCN5A | c.6002C>A (p.Ala2001Asp) c.6005C>A (p.Ala2002Asp) c.5951C>A (p.Ala1984Asp) c.5843C>A (p.Ala1948Asp) c.5906C>A (p.Ala1969Asp) c.5876C>A (p.Ala1959Asp) c.5948C>A (p.Ala1983Asp) | |
3 | g.38550368C>A | CA065157 | SCN5A | c.6001G>T (p.Ala2001Ser) c.6004G>T (p.Ala2002Ser) c.5950G>T (p.Ala1984Ser) c.5842G>T (p.Ala1948Ser) c.5905G>T (p.Ala1969Ser) c.5875G>T (p.Ala1959Ser) c.5947G>T (p.Ala1983Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550368C= | CA1358561726 | SCN5A | c.6001G= (p.Ala2001=) c.6004G= (p.Ala2002=) c.5950G= (p.Ala1984=) c.5842G= (p.Ala1948=) c.5905G= (p.Ala1969=) c.5875G= (p.Ala1959=) c.5947G= (p.Ala1983=) | |
3 | g.38550368C>G | CA352139125 | SCN5A | c.6001G>C (p.Ala2001Pro) c.6004G>C (p.Ala2002Pro) c.5950G>C (p.Ala1984Pro) c.5842G>C (p.Ala1948Pro) c.5905G>C (p.Ala1969Pro) c.5875G>C (p.Ala1959Pro) c.5947G>C (p.Ala1983Pro) | |
3 | g.38550368C>T | CA10576613 | SCN5A | c.6001G>A (p.Ala2001Thr) c.6004G>A (p.Ala2002Thr) c.5950G>A (p.Ala1984Thr) c.5842G>A (p.Ala1948Thr) c.5905G>A (p.Ala1969Thr) c.5875G>A (p.Ala1959Thr) c.5947G>A (p.Ala1983Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550369G>A | CA019574 | SCN5A | c.6000C>T (p.Leu2000=) c.6003C>T (p.Leu2001=) c.5949C>T (p.Leu1983=) c.5841C>T (p.Leu1947=) c.5904C>T (p.Leu1968=) c.5874C>T (p.Leu1958=) c.5946C>T (p.Leu1982=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550369G>C | CA433134173 | SCN5A | c.6000C>G (p.Leu2000=) c.6003C>G (p.Leu2001=) c.5949C>G (p.Leu1983=) c.5841C>G (p.Leu1947=) c.5904C>G (p.Leu1968=) c.5874C>G (p.Leu1958=) c.5946C>G (p.Leu1982=) | |
3 | g.38550369G= | CA1358561727 | SCN5A | c.6000C= (p.Leu2000=) c.6003C= (p.Leu2001=) c.5949C= (p.Leu1983=) c.5841C= (p.Leu1947=) c.5904C= (p.Leu1968=) c.5874C= (p.Leu1958=) c.5946C= (p.Leu1982=) | |
3 | g.38550369G>T | CA433134172 | SCN5A | c.6000C>A (p.Leu2000=) c.6003C>A (p.Leu2001=) c.5949C>A (p.Leu1983=) c.5841C>A (p.Leu1947=) c.5904C>A (p.Leu1968=) c.5874C>A (p.Leu1958=) c.5946C>A (p.Leu1982=) | |
3 | g.38550370A>C | CA352139129 | SCN5A | c.5999T>G (p.Leu2000Arg) c.6002T>G (p.Leu2001Arg) c.5948T>G (p.Leu1983Arg) c.5840T>G (p.Leu1947Arg) c.5903T>G (p.Leu1968Arg) c.5873T>G (p.Leu1958Arg) c.5945T>G (p.Leu1982Arg) | |
3 | g.38550370A>G | CA352139127 | SCN5A | c.5999T>C (p.Leu2000Pro) c.6002T>C (p.Leu2001Pro) c.5948T>C (p.Leu1983Pro) c.5840T>C (p.Leu1947Pro) c.5903T>C (p.Leu1968Pro) c.5873T>C (p.Leu1958Pro) c.5945T>C (p.Leu1982Pro) | gnomAD v4 |
3 | g.38550370A>T | CA352139131 | SCN5A | c.5999T>A (p.Leu2000His) c.6002T>A (p.Leu2001His) c.5948T>A (p.Leu1983His) c.5840T>A (p.Leu1947His) c.5903T>A (p.Leu1968His) c.5873T>A (p.Leu1958His) c.5945T>A (p.Leu1982His) | |
3 | g.38550371G>A | CA352139133 | SCN5A | c.5998C>T (p.Leu2000Phe) c.6001C>T (p.Leu2001Phe) c.5947C>T (p.Leu1983Phe) c.5839C>T (p.Leu1947Phe) c.5902C>T (p.Leu1968Phe) c.5872C>T (p.Leu1958Phe) c.5944C>T (p.Leu1982Phe) | gnomAD v4 |
3 | g.38550371G>C | CA352139135 | SCN5A | c.5998C>G (p.Leu2000Val) c.6001C>G (p.Leu2001Val) c.5947C>G (p.Leu1983Val) c.5839C>G (p.Leu1947Val) c.5902C>G (p.Leu1968Val) c.5872C>G (p.Leu1958Val) c.5944C>G (p.Leu1982Val) | |
3 | g.38550371G>T | CA352139137 | SCN5A | c.5998C>A (p.Leu2000Ile) c.6001C>A (p.Leu2001Ile) c.5947C>A (p.Leu1983Ile) c.5839C>A (p.Leu1947Ile) c.5902C>A (p.Leu1968Ile) c.5872C>A (p.Leu1958Ile) c.5944C>A (p.Leu1982Ile) | |
3 | g.38550372A= | CA1358561728 | SCN5A | c.5997T= (p.Asp1999=) c.6000T= (p.Asp2000=) c.5946T= (p.Asp1982=) c.5838T= (p.Asp1946=) c.5901T= (p.Asp1967=) c.5871T= (p.Asp1957=) c.5943T= (p.Asp1981=) | |
3 | g.38550372A>C | CA352139139 | SCN5A | c.5997T>G (p.Asp1999Glu) c.6000T>G (p.Asp2000Glu) c.5946T>G (p.Asp1982Glu) c.5838T>G (p.Asp1946Glu) c.5901T>G (p.Asp1967Glu) c.5871T>G (p.Asp1957Glu) c.5943T>G (p.Asp1981Glu) | |
3 | g.38550372A>G | CA065143 | SCN5A | c.5997T>C (p.Asp1999=) c.6000T>C (p.Asp2000=) c.5946T>C (p.Asp1982=) c.5838T>C (p.Asp1946=) c.5901T>C (p.Asp1967=) c.5871T>C (p.Asp1957=) c.5943T>C (p.Asp1981=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550372A>T | CA352139142 | SCN5A | c.5997T>A (p.Asp1999Glu) c.6000T>A (p.Asp2000Glu) c.5946T>A (p.Asp1982Glu) c.5838T>A (p.Asp1946Glu) c.5901T>A (p.Asp1967Glu) c.5871T>A (p.Asp1957Glu) c.5943T>A (p.Asp1981Glu) | |
3 | g.38550373T>A | CA352139144 | SCN5A | c.5996A>T (p.Asp1999Val) c.5999A>T (p.Asp2000Val) c.5945A>T (p.Asp1982Val) c.5837A>T (p.Asp1946Val) c.5900A>T (p.Asp1967Val) c.5870A>T (p.Asp1957Val) c.5942A>T (p.Asp1981Val) | |
3 | g.38550373T>C | CA352139146 | SCN5A | c.5996A>G (p.Asp1999Gly) c.5999A>G (p.Asp2000Gly) c.5945A>G (p.Asp1982Gly) c.5837A>G (p.Asp1946Gly) c.5900A>G (p.Asp1967Gly) c.5870A>G (p.Asp1957Gly) c.5942A>G (p.Asp1981Gly) | |
3 | g.38550373T>G | CA352139148 | SCN5A | c.5996A>C (p.Asp1999Ala) c.5999A>C (p.Asp2000Ala) c.5945A>C (p.Asp1982Ala) c.5837A>C (p.Asp1946Ala) c.5900A>C (p.Asp1967Ala) c.5870A>C (p.Asp1957Ala) c.5942A>C (p.Asp1981Ala) | |
3 | g.38550374C>A | CA065124 | SCN5A | c.5995G>T (p.Asp1999Tyr) c.5998G>T (p.Asp2000Tyr) c.5944G>T (p.Asp1982Tyr) c.5836G>T (p.Asp1946Tyr) c.5899G>T (p.Asp1967Tyr) c.5869G>T (p.Asp1957Tyr) c.5941G>T (p.Asp1981Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550374C= | CA1358561729 | SCN5A | c.5995G= (p.Asp1999=) c.5998G= (p.Asp2000=) c.5944G= (p.Asp1982=) c.5836G= (p.Asp1946=) c.5899G= (p.Asp1967=) c.5869G= (p.Asp1957=) c.5941G= (p.Asp1981=) | |
3 | g.38550374C>G | CA72937652 | SCN5A | c.5995G>C (p.Asp1999His) c.5998G>C (p.Asp2000His) c.5944G>C (p.Asp1982His) c.5836G>C (p.Asp1946His) c.5899G>C (p.Asp1967His) c.5869G>C (p.Asp1957His) c.5941G>C (p.Asp1981His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550374C>T | CA352139151 | SCN5A | c.5995G>A (p.Asp1999Asn) c.5998G>A (p.Asp2000Asn) c.5944G>A (p.Asp1982Asn) c.5836G>A (p.Asp1946Asn) c.5899G>A (p.Asp1967Asn) c.5869G>A (p.Asp1957Asn) c.5941G>A (p.Asp1981Asn) | |
3 | g.38550376_38550380dup | CA913188076 | SCN5A | c.5991_5995dup (p.Asp1999ValfsTer?) c.5994_5998dup (p.Asp2000ValfsTer?) c.5940_5944dup (p.Asp1982ValfsTer?) c.5832_5836dup (p.Asp1946ValfsTer?) c.5895_5899dup (p.Asp1967ValfsTer?) c.5865_5869dup (p.Asp1957ValfsTer?) c.5937_5941dup (p.Asp1981ValfsTer?) | |
3 | g.38550375T>A | CA352139153 | SCN5A | c.5994A>T (p.Glu1998Asp) c.5997A>T (p.Glu1999Asp) c.5943A>T (p.Glu1981Asp) c.5835A>T (p.Glu1945Asp) c.5898A>T (p.Glu1966Asp) c.5868A>T (p.Glu1956Asp) c.5940A>T (p.Glu1980Asp) | |
3 | g.38550375T>C | CA433134179 | SCN5A | c.5994A>G (p.Glu1998=) c.5997A>G (p.Glu1999=) c.5943A>G (p.Glu1981=) c.5835A>G (p.Glu1945=) c.5898A>G (p.Glu1966=) c.5868A>G (p.Glu1956=) c.5940A>G (p.Glu1980=) | gnomAD v4 |
3 | g.38550375T>G | CA352139157 | SCN5A | c.5994A>C (p.Glu1998Asp) c.5997A>C (p.Glu1999Asp) c.5943A>C (p.Glu1981Asp) c.5835A>C (p.Glu1945Asp) c.5898A>C (p.Glu1966Asp) c.5868A>C (p.Glu1956Asp) c.5940A>C (p.Glu1980Asp) | ClinVar dbSNP |
3 | g.38550375T= | CA1358561730 | SCN5A | c.5994A= (p.Glu1998=) c.5997A= (p.Glu1999=) c.5943A= (p.Glu1981=) c.5835A= (p.Glu1945=) c.5898A= (p.Glu1966=) c.5868A= (p.Glu1956=) c.5940A= (p.Glu1980=) | |
3 | g.38550376T>A | CA352139160 | SCN5A | c.5993A>T (p.Glu1998Val) c.5996A>T (p.Glu1999Val) c.5942A>T (p.Glu1981Val) c.5834A>T (p.Glu1945Val) c.5897A>T (p.Glu1966Val) c.5867A>T (p.Glu1956Val) c.5939A>T (p.Glu1980Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550376T>C | CA352139162 | SCN5A | c.5993A>G (p.Glu1998Gly) c.5996A>G (p.Glu1999Gly) c.5942A>G (p.Glu1981Gly) c.5834A>G (p.Glu1945Gly) c.5897A>G (p.Glu1966Gly) c.5867A>G (p.Glu1956Gly) c.5939A>G (p.Glu1980Gly) | |
3 | g.38550376T>G | CA352139164 | SCN5A | c.5993A>C (p.Glu1998Ala) c.5996A>C (p.Glu1999Ala) c.5942A>C (p.Glu1981Ala) c.5834A>C (p.Glu1945Ala) c.5897A>C (p.Glu1966Ala) c.5867A>C (p.Glu1956Ala) c.5939A>C (p.Glu1980Ala) | |
3 | g.38550376T= | CA1358561731 | SCN5A | c.5993A= (p.Glu1998=) c.5996A= (p.Glu1999=) c.5942A= (p.Glu1981=) c.5834A= (p.Glu1945=) c.5897A= (p.Glu1966=) c.5867A= (p.Glu1956=) c.5939A= (p.Glu1980=) | |
3 | g.38550377C>A | CA352139166 | SCN5A | c.5992G>T (p.Glu1998Ter) c.5995G>T (p.Glu1999Ter) c.5941G>T (p.Glu1981Ter) c.5833G>T (p.Glu1945Ter) c.5896G>T (p.Glu1966Ter) c.5866G>T (p.Glu1956Ter) c.5938G>T (p.Glu1980Ter) | dbSNP |
3 | g.38550377C= | CA1358561732 | SCN5A | c.5992G= (p.Glu1998=) c.5995G= (p.Glu1999=) c.5941G= (p.Glu1981=) c.5833G= (p.Glu1945=) c.5896G= (p.Glu1966=) c.5866G= (p.Glu1956=) c.5938G= (p.Glu1980=) | |
3 | g.38550377C>G | CA352139169 | SCN5A | c.5992G>C (p.Glu1998Gln) c.5995G>C (p.Glu1999Gln) c.5941G>C (p.Glu1981Gln) c.5833G>C (p.Glu1945Gln) c.5896G>C (p.Glu1966Gln) c.5866G>C (p.Glu1956Gln) c.5938G>C (p.Glu1980Gln) | |
3 | g.38550377C>T | CA352139170 | SCN5A | c.5992G>A (p.Glu1998Lys) c.5995G>A (p.Glu1999Lys) c.5941G>A (p.Glu1981Lys) c.5833G>A (p.Glu1945Lys) c.5896G>A (p.Glu1966Lys) c.5866G>A (p.Glu1956Lys) c.5938G>A (p.Glu1980Lys) | COSMIC COSMIC COSMIC |
3 | g.38550378A= | CA1358561733 | SCN5A | c.5991T= (p.Ser1997=) c.5994T= (p.Ser1998=) c.5940T= (p.Ser1980=) c.5832T= (p.Ser1944=) c.5895T= (p.Ser1965=) c.5865T= (p.Ser1955=) c.5937T= (p.Ser1979=) | |
3 | g.38550378A>C | CA352139173 | SCN5A | c.5991T>G (p.Ser1997Arg) c.5994T>G (p.Ser1998Arg) c.5940T>G (p.Ser1980Arg) c.5832T>G (p.Ser1944Arg) c.5895T>G (p.Ser1965Arg) c.5865T>G (p.Ser1955Arg) c.5937T>G (p.Ser1979Arg) | |
3 | g.38550378A>G | CA16604907 | SCN5A | c.5991T>C (p.Ser1997=) c.5994T>C (p.Ser1998=) c.5940T>C (p.Ser1980=) c.5832T>C (p.Ser1944=) c.5895T>C (p.Ser1965=) c.5865T>C (p.Ser1955=) c.5937T>C (p.Ser1979=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38550378A>T | CA352139174 | SCN5A | c.5991T>A (p.Ser1997Arg) c.5994T>A (p.Ser1998Arg) c.5940T>A (p.Ser1980Arg) c.5832T>A (p.Ser1944Arg) c.5895T>A (p.Ser1965Arg) c.5865T>A (p.Ser1955Arg) c.5937T>A (p.Ser1979Arg) | |
3 | g.38550379C>A | CA352139175 | SCN5A | c.5990G>T (p.Ser1997Ile) c.5993G>T (p.Ser1998Ile) c.5939G>T (p.Ser1980Ile) c.5831G>T (p.Ser1944Ile) c.5894G>T (p.Ser1965Ile) c.5864G>T (p.Ser1955Ile) c.5936G>T (p.Ser1979Ile) | |
3 | g.38550379C= | CA1358561734 | SCN5A | c.5990G= (p.Ser1997=) c.5993G= (p.Ser1998=) c.5939G= (p.Ser1980=) c.5831G= (p.Ser1944=) c.5894G= (p.Ser1965=) c.5864G= (p.Ser1955=) c.5936G= (p.Ser1979=) | |
3 | g.38550379C>G | CA352139177 | SCN5A | c.5990G>C (p.Ser1997Thr) c.5993G>C (p.Ser1998Thr) c.5939G>C (p.Ser1980Thr) c.5831G>C (p.Ser1944Thr) c.5894G>C (p.Ser1965Thr) c.5864G>C (p.Ser1955Thr) c.5936G>C (p.Ser1979Thr) | |
3 | g.38550379C>T | CA352139179 | SCN5A | c.5990G>A (p.Ser1997Asn) c.5993G>A (p.Ser1998Asn) c.5939G>A (p.Ser1980Asn) c.5831G>A (p.Ser1944Asn) c.5894G>A (p.Ser1965Asn) c.5864G>A (p.Ser1955Asn) c.5936G>A (p.Ser1979Asn) | dbSNP gnomAD v4 |
3 | g.38550380T>A | CA352139182 | SCN5A | c.5989A>T (p.Ser1997Cys) c.5992A>T (p.Ser1998Cys) c.5938A>T (p.Ser1980Cys) c.5830A>T (p.Ser1944Cys) c.5893A>T (p.Ser1965Cys) c.5863A>T (p.Ser1955Cys) c.5935A>T (p.Ser1979Cys) | |
3 | g.38550380T>C | CA352139184 | SCN5A | c.5989A>G (p.Ser1997Gly) c.5992A>G (p.Ser1998Gly) c.5938A>G (p.Ser1980Gly) c.5830A>G (p.Ser1944Gly) c.5893A>G (p.Ser1965Gly) c.5863A>G (p.Ser1955Gly) c.5935A>G (p.Ser1979Gly) | |
3 | g.38550380T>G | CA352139181 | SCN5A | c.5989A>C (p.Ser1997Arg) c.5992A>C (p.Ser1998Arg) c.5938A>C (p.Ser1980Arg) c.5830A>C (p.Ser1944Arg) c.5893A>C (p.Ser1965Arg) c.5863A>C (p.Ser1955Arg) c.5935A>C (p.Ser1979Arg) | |
3 | g.38550381G>A | CA72937655 | SCN5A | c.5988C>T (p.His1996=) c.5991C>T (p.His1997=) c.5937C>T (p.His1979=) c.5829C>T (p.His1943=) c.5892C>T (p.His1964=) c.5862C>T (p.His1954=) c.5934C>T (p.His1978=) | dbSNP gnomAD v4 |
3 | g.38550381G>C | CA352139188 | SCN5A | c.5988C>G (p.His1996Gln) c.5991C>G (p.His1997Gln) c.5937C>G (p.His1979Gln) c.5829C>G (p.His1943Gln) c.5892C>G (p.His1964Gln) c.5862C>G (p.His1954Gln) c.5934C>G (p.His1978Gln) | |
3 | g.38550381G= | CA1358561735 | SCN5A | c.5988C= (p.His1996=) c.5991C= (p.His1997=) c.5937C= (p.His1979=) c.5829C= (p.His1943=) c.5892C= (p.His1964=) c.5862C= (p.His1954=) c.5934C= (p.His1978=) | |
3 | g.38550381G>T | CA352139189 | SCN5A | c.5988C>A (p.His1996Gln) c.5991C>A (p.His1997Gln) c.5937C>A (p.His1979Gln) c.5829C>A (p.His1943Gln) c.5892C>A (p.His1964Gln) c.5862C>A (p.His1954Gln) c.5934C>A (p.His1978Gln) | |
3 | g.38550382T>A | CA352139191 | SCN5A | c.5987A>T (p.His1996Leu) c.5990A>T (p.His1997Leu) c.5936A>T (p.His1979Leu) c.5828A>T (p.His1943Leu) c.5891A>T (p.His1964Leu) c.5861A>T (p.His1954Leu) c.5933A>T (p.His1978Leu) | |
3 | g.38550382T>C | CA065118 | SCN5A | c.5987A>G (p.His1996Arg) c.5990A>G (p.His1997Arg) c.5936A>G (p.His1979Arg) c.5828A>G (p.His1943Arg) c.5891A>G (p.His1964Arg) c.5861A>G (p.His1954Arg) c.5933A>G (p.His1978Arg) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.38550382T>G | CA352139193 | SCN5A | c.5987A>C (p.His1996Pro) c.5990A>C (p.His1997Pro) c.5936A>C (p.His1979Pro) c.5828A>C (p.His1943Pro) c.5891A>C (p.His1964Pro) c.5861A>C (p.His1954Pro) c.5933A>C (p.His1978Pro) | |
3 | g.38550382T= | CA1358561736 | SCN5A | c.5987A= (p.His1996=) c.5990A= (p.His1997=) c.5936A= (p.His1979=) c.5828A= (p.His1943=) c.5891A= (p.His1964=) c.5861A= (p.His1954=) c.5933A= (p.His1978=) | |
3 | g.38550383G>A | CA352139196 | SCN5A | c.5986C>T (p.His1996Tyr) c.5989C>T (p.His1997Tyr) c.5935C>T (p.His1979Tyr) c.5827C>T (p.His1943Tyr) c.5890C>T (p.His1964Tyr) c.5860C>T (p.His1954Tyr) c.5932C>T (p.His1978Tyr) | dbSNP |
3 | g.38550383G>C | CA352139197 | SCN5A | c.5986C>G (p.His1996Asp) c.5989C>G (p.His1997Asp) c.5935C>G (p.His1979Asp) c.5827C>G (p.His1943Asp) c.5890C>G (p.His1964Asp) c.5860C>G (p.His1954Asp) c.5932C>G (p.His1978Asp) | |
3 | g.38550383G= | CA1358561737 | SCN5A | c.5986C= (p.His1996=) c.5989C= (p.His1997=) c.5935C= (p.His1979=) c.5827C= (p.His1943=) c.5890C= (p.His1964=) c.5860C= (p.His1954=) c.5932C= (p.His1978=) | |
3 | g.38550383G>T | CA352139198 | SCN5A | c.5986C>A (p.His1996Asn) c.5989C>A (p.His1997Asn) c.5935C>A (p.His1979Asn) c.5827C>A (p.His1943Asn) c.5890C>A (p.His1964Asn) c.5860C>A (p.His1954Asn) c.5932C>A (p.His1978Asn) | gnomAD v4 |
3 | g.38550384G>A | CA065111 | SCN5A | c.5985C>T (p.Ser1995=) c.5988C>T (p.Ser1996=) c.5934C>T (p.Ser1978=) c.5826C>T (p.Ser1942=) c.5889C>T (p.Ser1963=) c.5859C>T (p.Ser1953=) c.5931C>T (p.Ser1977=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550384G>C | CA352139200 | SCN5A | c.5985C>G (p.Ser1995Arg) c.5988C>G (p.Ser1996Arg) c.5934C>G (p.Ser1978Arg) c.5826C>G (p.Ser1942Arg) c.5889C>G (p.Ser1963Arg) c.5859C>G (p.Ser1953Arg) c.5931C>G (p.Ser1977Arg) | |
3 | g.38550384G= | CA1358561738 | SCN5A | c.5985C= (p.Ser1995=) c.5988C= (p.Ser1996=) c.5934C= (p.Ser1978=) c.5826C= (p.Ser1942=) c.5889C= (p.Ser1963=) c.5859C= (p.Ser1953=) c.5931C= (p.Ser1977=) | |
3 | g.38550384G>T | CA352139202 | SCN5A | c.5985C>A (p.Ser1995Arg) c.5988C>A (p.Ser1996Arg) c.5934C>A (p.Ser1978Arg) c.5826C>A (p.Ser1942Arg) c.5889C>A (p.Ser1963Arg) c.5859C>A (p.Ser1953Arg) c.5931C>A (p.Ser1977Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550385C>A | CA352139208 | SCN5A | c.5984G>T (p.Ser1995Ile) c.5987G>T (p.Ser1996Ile) c.5933G>T (p.Ser1978Ile) c.5825G>T (p.Ser1942Ile) c.5888G>T (p.Ser1963Ile) c.5858G>T (p.Ser1953Ile) c.5930G>T (p.Ser1977Ile) | gnomAD v4 |
3 | g.38550385C= | CA1358561739 | SCN5A | c.5984G= (p.Ser1995=) c.5987G= (p.Ser1996=) c.5933G= (p.Ser1978=) c.5825G= (p.Ser1942=) c.5888G= (p.Ser1963=) c.5858G= (p.Ser1953=) c.5930G= (p.Ser1977=) | |
3 | g.38550385C>G | CA352139204 | SCN5A | c.5984G>C (p.Ser1995Thr) c.5987G>C (p.Ser1996Thr) c.5933G>C (p.Ser1978Thr) c.5825G>C (p.Ser1942Thr) c.5888G>C (p.Ser1963Thr) c.5858G>C (p.Ser1953Thr) c.5930G>C (p.Ser1977Thr) | |
3 | g.38550385C>T | CA352139206 | SCN5A | c.5984G>A (p.Ser1995Asn) c.5987G>A (p.Ser1996Asn) c.5933G>A (p.Ser1978Asn) c.5825G>A (p.Ser1942Asn) c.5888G>A (p.Ser1963Asn) c.5858G>A (p.Ser1953Asn) c.5930G>A (p.Ser1977Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550386T>A | CA352139210 | SCN5A | c.5983A>T (p.Ser1995Cys) c.5986A>T (p.Ser1996Cys) c.5932A>T (p.Ser1978Cys) c.5824A>T (p.Ser1942Cys) c.5887A>T (p.Ser1963Cys) c.5857A>T (p.Ser1953Cys) c.5929A>T (p.Ser1977Cys) | |
3 | g.38550386T>C | CA352139212 | SCN5A | c.5983A>G (p.Ser1995Gly) c.5986A>G (p.Ser1996Gly) c.5932A>G (p.Ser1978Gly) c.5824A>G (p.Ser1942Gly) c.5887A>G (p.Ser1963Gly) c.5857A>G (p.Ser1953Gly) c.5929A>G (p.Ser1977Gly) | |
3 | g.38550386T>G | CA352139214 | SCN5A | c.5983A>C (p.Ser1995Arg) c.5986A>C (p.Ser1996Arg) c.5932A>C (p.Ser1978Arg) c.5824A>C (p.Ser1942Arg) c.5887A>C (p.Ser1963Arg) c.5857A>C (p.Ser1953Arg) c.5929A>C (p.Ser1977Arg) | |
3 | g.38550387G>A | CA433134185 | SCN5A | c.5982C>T (p.Tyr1994=) c.5985C>T (p.Tyr1995=) c.5931C>T (p.Tyr1977=) c.5823C>T (p.Tyr1941=) c.5886C>T (p.Tyr1962=) c.5856C>T (p.Tyr1952=) c.5928C>T (p.Tyr1976=) | gnomAD v4 |
3 | g.38550387G>C | CA019569 | SCN5A | c.5982C>G (p.Tyr1994Ter) c.5985C>G (p.Tyr1995Ter) c.5931C>G (p.Tyr1977Ter) c.5823C>G (p.Tyr1941Ter) c.5886C>G (p.Tyr1962Ter) c.5856C>G (p.Tyr1952Ter) c.5928C>G (p.Tyr1976Ter) | ClinVar dbSNP |
3 | g.38550387G= | CA1358561740 | SCN5A | c.5982C= (p.Tyr1994=) c.5985C= (p.Tyr1995=) c.5931C= (p.Tyr1977=) c.5823C= (p.Tyr1941=) c.5886C= (p.Tyr1962=) c.5856C= (p.Tyr1952=) c.5928C= (p.Tyr1976=) | |
3 | g.38550387G>T | CA72937659 | SCN5A | c.5982C>A (p.Tyr1994Ter) c.5985C>A (p.Tyr1995Ter) c.5931C>A (p.Tyr1977Ter) c.5823C>A (p.Tyr1941Ter) c.5886C>A (p.Tyr1962Ter) c.5856C>A (p.Tyr1952Ter) c.5928C>A (p.Tyr1976Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550388T>A | CA352139217 | SCN5A | c.5981A>T (p.Tyr1994Phe) c.5984A>T (p.Tyr1995Phe) c.5930A>T (p.Tyr1977Phe) c.5822A>T (p.Tyr1941Phe) c.5885A>T (p.Tyr1962Phe) c.5855A>T (p.Tyr1952Phe) c.5927A>T (p.Tyr1976Phe) | |
3 | g.38550388T>C | CA352139218 | SCN5A | c.5981A>G (p.Tyr1994Cys) c.5984A>G (p.Tyr1995Cys) c.5930A>G (p.Tyr1977Cys) c.5822A>G (p.Tyr1941Cys) c.5885A>G (p.Tyr1962Cys) c.5855A>G (p.Tyr1952Cys) c.5927A>G (p.Tyr1976Cys) | |
3 | g.38550388T>G | CA352139220 | SCN5A | c.5981A>C (p.Tyr1994Ser) c.5984A>C (p.Tyr1995Ser) c.5930A>C (p.Tyr1977Ser) c.5822A>C (p.Tyr1941Ser) c.5885A>C (p.Tyr1962Ser) c.5855A>C (p.Tyr1952Ser) c.5927A>C (p.Tyr1976Ser) | dbSNP |
3 | g.38550388T= | CA1358561741 | SCN5A | c.5981A= (p.Tyr1994=) c.5984A= (p.Tyr1995=) c.5930A= (p.Tyr1977=) c.5822A= (p.Tyr1941=) c.5885A= (p.Tyr1962=) c.5855A= (p.Tyr1952=) c.5927A= (p.Tyr1976=) | |
3 | g.38550389A>C | CA352139222 | SCN5A | c.5980T>G (p.Tyr1994Asp) c.5983T>G (p.Tyr1995Asp) c.5929T>G (p.Tyr1977Asp) c.5821T>G (p.Tyr1941Asp) c.5884T>G (p.Tyr1962Asp) c.5854T>G (p.Tyr1952Asp) c.5926T>G (p.Tyr1976Asp) | |
3 | g.38550389A>G | CA352139224 | SCN5A | c.5980T>C (p.Tyr1994His) c.5983T>C (p.Tyr1995His) c.5929T>C (p.Tyr1977His) c.5821T>C (p.Tyr1941His) c.5884T>C (p.Tyr1962His) c.5854T>C (p.Tyr1952His) c.5926T>C (p.Tyr1976His) | gnomAD v4 |
3 | g.38550389A>T | CA352139225 | SCN5A | c.5980T>A (p.Tyr1994Asn) c.5983T>A (p.Tyr1995Asn) c.5929T>A (p.Tyr1977Asn) c.5821T>A (p.Tyr1941Asn) c.5884T>A (p.Tyr1962Asn) c.5854T>A (p.Tyr1952Asn) c.5926T>A (p.Tyr1976Asn) | |
3 | g.38550390G>A | CA433134186 | SCN5A | c.5979C>T (p.Asp1993=) c.5982C>T (p.Asp1994=) c.5928C>T (p.Asp1976=) c.5820C>T (p.Asp1940=) c.5883C>T (p.Asp1961=) c.5853C>T (p.Asp1951=) c.5925C>T (p.Asp1975=) | |
3 | g.38550390G>C | CA352139227 | SCN5A | c.5979C>G (p.Asp1993Glu) c.5982C>G (p.Asp1994Glu) c.5928C>G (p.Asp1976Glu) c.5820C>G (p.Asp1940Glu) c.5883C>G (p.Asp1961Glu) c.5853C>G (p.Asp1951Glu) c.5925C>G (p.Asp1975Glu) | |
3 | g.38550390G>T | CA352139229 | SCN5A | c.5979C>A (p.Asp1993Glu) c.5982C>A (p.Asp1994Glu) c.5928C>A (p.Asp1976Glu) c.5820C>A (p.Asp1940Glu) c.5883C>A (p.Asp1961Glu) c.5853C>A (p.Asp1951Glu) c.5925C>A (p.Asp1975Glu) | |
3 | g.38550391T>A | CA352139233 | SCN5A | c.5978A>T (p.Asp1993Val) c.5981A>T (p.Asp1994Val) c.5927A>T (p.Asp1976Val) c.5819A>T (p.Asp1940Val) c.5882A>T (p.Asp1961Val) c.5852A>T (p.Asp1951Val) c.5924A>T (p.Asp1975Val) | |
3 | g.38550391T>C | CA352139235 | SCN5A | c.5978A>G (p.Asp1993Gly) c.5981A>G (p.Asp1994Gly) c.5927A>G (p.Asp1976Gly) c.5819A>G (p.Asp1940Gly) c.5882A>G (p.Asp1961Gly) c.5852A>G (p.Asp1951Gly) c.5924A>G (p.Asp1975Gly) | gnomAD v4 |
3 | g.38550391T>G | CA352139231 | SCN5A | c.5978A>C (p.Asp1993Ala) c.5981A>C (p.Asp1994Ala) c.5927A>C (p.Asp1976Ala) c.5819A>C (p.Asp1940Ala) c.5882A>C (p.Asp1961Ala) c.5852A>C (p.Asp1951Ala) c.5924A>C (p.Asp1975Ala) | |
3 | g.38550391_38550406del | CA2665106248 | SCN5A | c.5963_5978del (p.Gln1988ProfsTer?) c.5966_5981del (p.Gln1989ProfsTer?) c.5912_5927del (p.Gln1971ProfsTer?) c.5804_5819del (p.Gln1935ProfsTer?) c.5867_5882del (p.Gln1956ProfsTer?) c.5837_5852del (p.Gln1946ProfsTer?) c.5909_5924del (p.Gln1970ProfsTer?) | gnomAD v4 |
3 | g.38550392C>A | CA352139240 | SCN5A | c.5977G>T (p.Asp1993Tyr) c.5980G>T (p.Asp1994Tyr) c.5926G>T (p.Asp1976Tyr) c.5818G>T (p.Asp1940Tyr) c.5881G>T (p.Asp1961Tyr) c.5851G>T (p.Asp1951Tyr) c.5923G>T (p.Asp1975Tyr) | |
3 | g.38550392C>G | CA352139237 | SCN5A | c.5977G>C (p.Asp1993His) c.5980G>C (p.Asp1994His) c.5926G>C (p.Asp1976His) c.5818G>C (p.Asp1940His) c.5881G>C (p.Asp1961His) c.5851G>C (p.Asp1951His) c.5923G>C (p.Asp1975His) | ClinVar gnomAD v4 |
3 | g.38550392C>T | CA352139239 | SCN5A | c.5977G>A (p.Asp1993Asn) c.5980G>A (p.Asp1994Asn) c.5926G>A (p.Asp1976Asn) c.5818G>A (p.Asp1940Asn) c.5881G>A (p.Asp1961Asn) c.5851G>A (p.Asp1951Asn) c.5923G>A (p.Asp1975Asn) | gnomAD v4 |
3 | g.38550393A>C | CA433134191 | SCN5A | c.5976T>G (p.Ser1992=) c.5979T>G (p.Ser1993=) c.5925T>G (p.Ser1975=) c.5817T>G (p.Ser1939=) c.5880T>G (p.Ser1960=) c.5850T>G (p.Ser1950=) c.5922T>G (p.Ser1974=) | |
3 | g.38550393A>G | CA433134190 | SCN5A | c.5976T>C (p.Ser1992=) c.5979T>C (p.Ser1993=) c.5925T>C (p.Ser1975=) c.5817T>C (p.Ser1939=) c.5880T>C (p.Ser1960=) c.5850T>C (p.Ser1950=) c.5922T>C (p.Ser1974=) | gnomAD v4 |
3 | g.38550393A>T | CA433134189 | SCN5A | c.5976T>A (p.Ser1992=) c.5979T>A (p.Ser1993=) c.5925T>A (p.Ser1975=) c.5817T>A (p.Ser1939=) c.5880T>A (p.Ser1960=) c.5850T>A (p.Ser1950=) c.5922T>A (p.Ser1974=) | |
3 | g.38550394G>A | CA352139242 | SCN5A | c.5975C>T (p.Ser1992Phe) c.5978C>T (p.Ser1993Phe) c.5924C>T (p.Ser1975Phe) c.5816C>T (p.Ser1939Phe) c.5879C>T (p.Ser1960Phe) c.5849C>T (p.Ser1950Phe) c.5921C>T (p.Ser1974Phe) | |
3 | g.38550394G>C | CA352139243 | SCN5A | c.5975C>G (p.Ser1992Cys) c.5978C>G (p.Ser1993Cys) c.5924C>G (p.Ser1975Cys) c.5816C>G (p.Ser1939Cys) c.5879C>G (p.Ser1960Cys) c.5849C>G (p.Ser1950Cys) c.5921C>G (p.Ser1974Cys) | ClinVar |
3 | g.38550394G>T | CA352139245 | SCN5A | c.5975C>A (p.Ser1992Tyr) c.5978C>A (p.Ser1993Tyr) c.5924C>A (p.Ser1975Tyr) c.5816C>A (p.Ser1939Tyr) c.5879C>A (p.Ser1960Tyr) c.5849C>A (p.Ser1950Tyr) c.5921C>A (p.Ser1974Tyr) | |
3 | g.38550395A= | CA1358561742 | SCN5A | c.5974T= (p.Ser1992=) c.5977T= (p.Ser1993=) c.5923T= (p.Ser1975=) c.5815T= (p.Ser1939=) c.5878T= (p.Ser1960=) c.5848T= (p.Ser1950=) c.5920T= (p.Ser1974=) | |
3 | g.38550395A>C | CA352139248 | SCN5A | c.5974T>G (p.Ser1992Ala) c.5977T>G (p.Ser1993Ala) c.5923T>G (p.Ser1975Ala) c.5815T>G (p.Ser1939Ala) c.5878T>G (p.Ser1960Ala) c.5848T>G (p.Ser1950Ala) c.5920T>G (p.Ser1974Ala) | |
3 | g.38550395A>G | CA352139249 | SCN5A | c.5974T>C (p.Ser1992Pro) c.5977T>C (p.Ser1993Pro) c.5923T>C (p.Ser1975Pro) c.5815T>C (p.Ser1939Pro) c.5878T>C (p.Ser1960Pro) c.5848T>C (p.Ser1950Pro) c.5920T>C (p.Ser1974Pro) | gnomAD v4 |
3 | g.38550395A>T | CA352139251 | SCN5A | c.5974T>A (p.Ser1992Thr) c.5977T>A (p.Ser1993Thr) c.5923T>A (p.Ser1975Thr) c.5815T>A (p.Ser1939Thr) c.5878T>A (p.Ser1960Thr) c.5848T>A (p.Ser1950Thr) c.5920T>A (p.Ser1974Thr) | gnomAD v4 |
3 | g.38550396C>A | CA433134195 | SCN5A | c.5973G>T (p.Gly1991=) c.5976G>T (p.Gly1992=) c.5922G>T (p.Gly1974=) c.5814G>T (p.Gly1938=) c.5877G>T (p.Gly1959=) c.5847G>T (p.Gly1949=) c.5919G>T (p.Gly1973=) | gnomAD v4 |
3 | g.38550396C= | CA1358561743 | SCN5A | c.5973G= (p.Gly1991=) c.5976G= (p.Gly1992=) c.5922G= (p.Gly1974=) c.5814G= (p.Gly1938=) c.5877G= (p.Gly1959=) c.5847G= (p.Gly1949=) c.5919G= (p.Gly1973=) | |
3 | g.38550396C>G | CA433134196 | SCN5A | c.5973G>C (p.Gly1991=) c.5976G>C (p.Gly1992=) c.5922G>C (p.Gly1974=) c.5814G>C (p.Gly1938=) c.5877G>C (p.Gly1959=) c.5847G>C (p.Gly1949=) c.5919G>C (p.Gly1973=) | ClinVar dbSNP |
3 | g.38550396C>T | CA065106 | SCN5A | c.5973G>A (p.Gly1991=) c.5976G>A (p.Gly1992=) c.5922G>A (p.Gly1974=) c.5814G>A (p.Gly1938=) c.5877G>A (p.Gly1959=) c.5847G>A (p.Gly1949=) c.5919G>A (p.Gly1973=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38550400dup | CA16617940 | SCN5A | c.5973dup (p.Ser1992ValfsTer2) c.5976dup (p.Ser1993ValfsTer2) c.5922dup (p.Ser1975ValfsTer2) c.5814dup (p.Ser1939ValfsTer2) c.5877dup (p.Ser1960ValfsTer2) c.5847dup (p.Ser1950ValfsTer2) c.5919dup (p.Ser1974ValfsTer2) | ClinVar dbSNP |
3 | g.38550397C>A | CA352139253 | SCN5A | c.5972G>T (p.Gly1991Val) c.5975G>T (p.Gly1992Val) c.5921G>T (p.Gly1974Val) c.5813G>T (p.Gly1938Val) c.5876G>T (p.Gly1959Val) c.5846G>T (p.Gly1949Val) c.5918G>T (p.Gly1973Val) | ClinVar dbSNP gnomAD v4 |
3 | g.38550397C= | CA1358555669 | SCN5A | c.5972G= (p.Gly1991=) c.5975G= (p.Gly1992=) c.5921G= (p.Gly1974=) c.5813G= (p.Gly1938=) c.5876G= (p.Gly1959=) c.5846G= (p.Gly1949=) c.5918G= (p.Gly1973=) | |
3 | g.38550397C>G | CA065101 | SCN5A | c.5972G>C (p.Gly1991Ala) c.5975G>C (p.Gly1992Ala) c.5921G>C (p.Gly1974Ala) c.5813G>C (p.Gly1938Ala) c.5876G>C (p.Gly1959Ala) c.5846G>C (p.Gly1949Ala) c.5918G>C (p.Gly1973Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550397C>T | CA352139254 | SCN5A | c.5972G>A (p.Gly1991Glu) c.5975G>A (p.Gly1992Glu) c.5921G>A (p.Gly1974Glu) c.5813G>A (p.Gly1938Glu) c.5876G>A (p.Gly1959Glu) c.5846G>A (p.Gly1949Glu) c.5918G>A (p.Gly1973Glu) | dbSNP |
3 | g.38550398C>A | CA352139259 | SCN5A | c.5971G>T (p.Gly1991Trp) c.5974G>T (p.Gly1992Trp) c.5920G>T (p.Gly1974Trp) c.5812G>T (p.Gly1938Trp) c.5875G>T (p.Gly1959Trp) c.5845G>T (p.Gly1949Trp) c.5917G>T (p.Gly1973Trp) | gnomAD v4 |
3 | g.38550398C>G | CA352139260 | SCN5A | c.5971G>C (p.Gly1991Arg) c.5974G>C (p.Gly1992Arg) c.5920G>C (p.Gly1974Arg) c.5812G>C (p.Gly1938Arg) c.5875G>C (p.Gly1959Arg) c.5845G>C (p.Gly1949Arg) c.5917G>C (p.Gly1973Arg) | |
3 | g.38550398C>T | CA352139257 | SCN5A | c.5971G>A (p.Gly1991Arg) c.5974G>A (p.Gly1992Arg) c.5920G>A (p.Gly1974Arg) c.5812G>A (p.Gly1938Arg) c.5875G>A (p.Gly1959Arg) c.5845G>A (p.Gly1949Arg) c.5917G>A (p.Gly1973Arg) | |
3 | g.38550399C>A | CA433134200 | SCN5A | c.5970G>T (p.Arg1990=) c.5973G>T (p.Arg1991=) c.5919G>T (p.Arg1973=) c.5811G>T (p.Arg1937=) c.5874G>T (p.Arg1958=) c.5844G>T (p.Arg1948=) c.5916G>T (p.Arg1972=) | |
3 | g.38550399C>G | CA433134201 | SCN5A | c.5970G>C (p.Arg1990=) c.5973G>C (p.Arg1991=) c.5919G>C (p.Arg1973=) c.5811G>C (p.Arg1937=) c.5874G>C (p.Arg1958=) c.5844G>C (p.Arg1948=) c.5916G>C (p.Arg1972=) | |
3 | g.38550399C>T | CA433134202 | SCN5A | c.5970G>A (p.Arg1990=) c.5973G>A (p.Arg1991=) c.5919G>A (p.Arg1973=) c.5811G>A (p.Arg1937=) c.5874G>A (p.Arg1958=) c.5844G>A (p.Arg1948=) c.5916G>A (p.Arg1972=) | |
3 | g.38550400C>A | CA352139262 | SCN5A | c.5969G>T (p.Arg1990Leu) c.5972G>T (p.Arg1991Leu) c.5918G>T (p.Arg1973Leu) c.5810G>T (p.Arg1937Leu) c.5873G>T (p.Arg1958Leu) c.5843G>T (p.Arg1948Leu) c.5915G>T (p.Arg1972Leu) | gnomAD v4 |
3 | g.38550400C= | CA1358555678 | SCN5A | c.5969G= (p.Arg1990=) c.5972G= (p.Arg1991=) c.5918G= (p.Arg1973=) c.5810G= (p.Arg1937=) c.5873G= (p.Arg1958=) c.5843G= (p.Arg1948=) c.5915G= (p.Arg1972=) | |
3 | g.38550400C>G | CA352139263 | SCN5A | c.5969G>C (p.Arg1990Pro) c.5972G>C (p.Arg1991Pro) c.5918G>C (p.Arg1973Pro) c.5810G>C (p.Arg1937Pro) c.5873G>C (p.Arg1958Pro) c.5843G>C (p.Arg1948Pro) c.5915G>C (p.Arg1972Pro) | |
3 | g.38550400C>T | CA019564 | SCN5A | c.5969G>A (p.Arg1990Gln) c.5972G>A (p.Arg1991Gln) c.5918G>A (p.Arg1973Gln) c.5810G>A (p.Arg1937Gln) c.5873G>A (p.Arg1958Gln) c.5843G>A (p.Arg1948Gln) c.5915G>A (p.Arg1972Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550401G>A | CA065094 | SCN5A | c.5968C>T (p.Arg1990Trp) c.5971C>T (p.Arg1991Trp) c.5917C>T (p.Arg1973Trp) c.5809C>T (p.Arg1937Trp) c.5872C>T (p.Arg1958Trp) c.5842C>T (p.Arg1948Trp) c.5914C>T (p.Arg1972Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38550401G>C | CA352139266 | SCN5A | c.5968C>G (p.Arg1990Gly) c.5971C>G (p.Arg1991Gly) c.5917C>G (p.Arg1973Gly) c.5809C>G (p.Arg1937Gly) c.5872C>G (p.Arg1958Gly) c.5842C>G (p.Arg1948Gly) c.5914C>G (p.Arg1972Gly) | |
3 | g.38550401G= | CA1358555684 | SCN5A | c.5968C= (p.Arg1990=) c.5971C= (p.Arg1991=) c.5917C= (p.Arg1973=) c.5809C= (p.Arg1937=) c.5872C= (p.Arg1958=) c.5842C= (p.Arg1948=) c.5914C= (p.Arg1972=) | |
3 | g.38550401G>T | CA433134205 | SCN5A | c.5968C>A (p.Arg1990=) c.5971C>A (p.Arg1991=) c.5917C>A (p.Arg1973=) c.5809C>A (p.Arg1937=) c.5872C>A (p.Arg1958=) c.5842C>A (p.Arg1948=) c.5914C>A (p.Arg1972=) | gnomAD v4 |
3 | g.38550402C>A | CA433134206 | SCN5A | c.5967G>T (p.Val1989=) c.5970G>T (p.Val1990=) c.5916G>T (p.Val1972=) c.5808G>T (p.Val1936=) c.5871G>T (p.Val1957=) c.5841G>T (p.Val1947=) c.5913G>T (p.Val1971=) | gnomAD v4 |
3 | g.38550402C>G | CA433134207 | SCN5A | c.5967G>C (p.Val1989=) c.5970G>C (p.Val1990=) c.5916G>C (p.Val1972=) c.5808G>C (p.Val1936=) c.5871G>C (p.Val1957=) c.5841G>C (p.Val1947=) c.5913G>C (p.Val1971=) | |
3 | g.38550402C>T | CA433134208 | SCN5A | c.5967G>A (p.Val1989=) c.5970G>A (p.Val1990=) c.5916G>A (p.Val1972=) c.5808G>A (p.Val1936=) c.5871G>A (p.Val1957=) c.5841G>A (p.Val1947=) c.5913G>A (p.Val1971=) |