UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550253_38550256dup | CA916873431 | SCN5A | c.*71_*74dup (n.*71_*74dup) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550254C>T | CA2665105881 | SCN5A | c.*67G>A (n.*67G>A) | gnomAD v4 |
| 3 | g.38550256G>A | CA2665105883 | SCN5A | c.*65C>T (n.*65C>T) | gnomAD v4 |
| 3 | g.38550257C= | CA1358561668 | SCN5A | c.*64G= (n.*64G=) | |
| 3 | g.38550257C>T | CA1358561669 | SCN5A | c.*64G>A (n.*64G>A) | dbSNP gnomAD v4 |
| 3 | g.38550258A>G | CA2577552809 | SCN5A | c.*63T>C (n.*63T>C) | gnomAD v4 |
| 3 | g.38550259T>G | CA2665105888 | SCN5A | c.*62A>C (n.*62A>C) | gnomAD v4 |
| 3 | g.38550261dup | CA2577552810 | SCN5A | c.*62dup (n.*62dup) | |
| 3 | g.38550264G>T | CA2665105889 | SCN5A | c.*57C>A (n.*57C>A) | gnomAD v4 |
| 3 | g.38550265T>G | CA1358561671 | SCN5A | c.*56A>C (n.*56A>C) | dbSNP gnomAD v4 |
| 3 | g.38550265T= | CA1358561670 | SCN5A | c.*56A= (n.*56A=) | |
| 3 | g.38550266_38550267del | CA2665105890 | SCN5A | c.*55_*56del (n.*55_*56del) | gnomAD v4 |
| 3 | g.38550266T>C | CA1358561673 | SCN5A | c.*55A>G (n.*55A>G) | dbSNP |
| 3 | g.38550266T>G | CA2665105892 | SCN5A | c.*55A>C (n.*55A>C) | gnomAD v4 |
| 3 | g.38550266T= | CA1358561672 | SCN5A | c.*55A= (n.*55A=) | |
| 3 | g.38550268G>T | CA2665105893 | SCN5A | c.*53C>A (n.*53C>A) | gnomAD v4 |
| 3 | g.38550268_38550269insACA | CA2665105898 | SCN5A | c.*52_*53insTGT (n.*52_*53insTGT) | gnomAD v4 |
| 3 | g.38550269C>A | CA2665105896 | SCN5A | c.*52G>T (n.*52G>T) | gnomAD v4 |
| 3 | g.38550269C>T | CA2665105895 | SCN5A | c.*52G>A (n.*52G>A) | gnomAD v4 |
| 3 | g.38550270del | CA2665105897 | SCN5A | c.*52del (n.*52del) | gnomAD v4 |
| 3 | g.38550269_38550270insT | CA647583413 | SCN5A | c.*51_*52insA (n.*51_*52insA) | COSMIC |
| 3 | g.38550270C>G | CA2665105899 | SCN5A | c.*51G>C (n.*51G>C) | gnomAD v4 |
| 3 | g.38550270C>T | CA2665105900 | SCN5A | c.*51G>A (n.*51G>A) | gnomAD v4 |
| 3 | g.38550271A>G | CA2665105902 | SCN5A | c.*50T>C (n.*50T>C) | gnomAD v4 |
| 3 | g.38550272T>C | CA72937618 | SCN5A | c.*49A>G (n.*49A>G) | dbSNP |
| 3 | g.38550272T>G | CA2665105906 | SCN5A | c.*49A>C (n.*49A>C) | gnomAD v4 |
| 3 | g.38550272T= | CA1358561674 | SCN5A | c.*49A= (n.*49A=) | |
| 3 | g.38550273G>A | CA2665105907 | SCN5A | c.*48C>T (n.*48C>T) | gnomAD v4 |
| 3 | g.38550273G>T | CA2665105908 | SCN5A | c.*48C>A (n.*48C>A) | gnomAD v4 |
| 3 | g.38550274G>T | CA2665105910 | SCN5A | c.*47C>A (n.*47C>A) | gnomAD v4 |
| 3 | g.38550275del | CA2577552811 | SCN5A | c.*46del (n.*46del) | gnomAD v4 |
| 3 | g.38550275_38550277del | CA2665105912 | SCN5A | c.*44_*46del (n.*44_*46del) | gnomAD v4 |
| 3 | g.38550276G>T | CA2665105914 | SCN5A | c.*45C>A (n.*45C>A) | gnomAD v4 |
| 3 | g.38550276dup | CA2665105913 | SCN5A | c.*45dup (n.*45dup) | gnomAD v4 |
| 3 | g.38550277A= | CA1358561675 | SCN5A | c.*44T= (n.*44T=) | |
| 3 | g.38550277A>C | CA906905776 | SCN5A | c.*44T>G (n.*44T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550281del | CA2665105915 | SCN5A | c.*44del (n.*44del) | gnomAD v4 |
| 3 | g.38550278A>G | CA2665105917 | SCN5A | c.*43T>C (n.*43T>C) | gnomAD v4 |
| 3 | g.38550279A>G | CA2665105919 | SCN5A | c.*42T>C (n.*42T>C) | gnomAD v4 |
| 3 | g.38550280A= | CA1358561676 | SCN5A | c.*41T= (n.*41T=) | |
| 3 | g.38550280A>T | CA2665105922 | SCN5A | c.*41T>A (n.*41T>A) | gnomAD v4 |
| 3 | g.38550280_38550281insG | CA1047007083 | SCN5A | c.*40_*41insC (n.*40_*41insC) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550281A= | CA1358561677 | SCN5A | c.*40T= (n.*40T=) | |
| 3 | g.38550281A>G | CA1047007084 | SCN5A | c.*40T>C (n.*40T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550282G>A | CA1047007087 | SCN5A | c.*39C>T (n.*39C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550282G>C | CA2577552812 | SCN5A | c.*39C>G (n.*39C>G) | gnomAD v4 |
| 3 | g.38550282G= | CA1358561678 | SCN5A | c.*39C= (n.*39C=) | |
| 3 | g.38550282G>T | CA062712 | SCN5A | c.*39C>A (n.*39C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550283G>A | CA906905779 | SCN5A | c.*38C>T (n.*38C>T) | dbSNP |
| 3 | g.38550283G= | CA1358561679 | SCN5A | c.*38C= (n.*38C=) | |
| 3 | g.38550283G>T | CA2665105931 | SCN5A | c.*38C>A (n.*38C>A) | gnomAD v4 |
| 3 | g.38550284C>A | CA2665105937 | SCN5A | c.*37G>T (n.*37G>T) | gnomAD v4 |
| 3 | g.38550284_38550285insAACC | CA2665105933 | SCN5A | c.*37_*38insGTTG (n.*37_*38insGTTG) | gnomAD v4 |
| 3 | g.38550284_38550285del | CA2665105935 | SCN5A | c.*36_*37del (n.*36_*37del) | gnomAD v4 |
| 3 | g.38550285T>C | CA906905782 | SCN5A | c.*36A>G (n.*36A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550285T= | CA1358561680 | SCN5A | c.*36A= (n.*36A=) | |
| 3 | g.38550286G>T | CA2665105941 | SCN5A | c.*35C>A (n.*35C>A) | gnomAD v4 |
| 3 | g.38550286_38550287del | CA2665105940 | SCN5A | c.*34_*35del (n.*34_*35del) | gnomAD v4 |
| 3 | g.38550287C>A | CA1358561682 | SCN5A | c.*34G>T (n.*34G>T) | dbSNP |
| 3 | g.38550287C= | CA1358561681 | SCN5A | c.*34G= (n.*34G=) | |
| 3 | g.38550288_38550299del | CA2665105942 | SCN5A | c.*22_*33del (n.*22_*33del) | gnomAD v4 |
| 3 | g.38550289T>C | CA2665105944 | SCN5A | c.*32A>G (n.*32A>G) | gnomAD v4 |
| 3 | g.38550292C>A | CA2665105945 | SCN5A | c.*29G>T (n.*29G>T) | gnomAD v4 |
| 3 | g.38550293del | CA2665105946 | SCN5A | c.*28del (n.*28del) | gnomAD v4 |
| 3 | g.38550293A= | CA1358561683 | SCN5A | c.*28T= (n.*28T=) | |
| 3 | g.38550293A>G | CA906905783 | SCN5A | c.*28T>C (n.*28T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550293A>T | CA2665105947 | SCN5A | c.*28T>A (n.*28T>A) | gnomAD v4 |
| 3 | g.38550294G>A | CA2506529637 | SCN5A | c.*27C>T (n.*27C>T) | |
| 3 | g.38550295T>C | CA542269459 | SCN5A | c.*26A>G (n.*26A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550295T>G | CA060712 | SCN5A | c.*26A>C (n.*26A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550295T= | CA1358561684 | SCN5A | c.*26A= (n.*26A=) | |
| 3 | g.38550296G= | CA1358561685 | SCN5A | c.*25C= (n.*25C=) | |
| 3 | g.38550296G>T | CA060626 | SCN5A | c.*25C>A (n.*25C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550297T>C | CA2665105952 | SCN5A | c.*24A>G (n.*24A>G) | gnomAD v4 |
| 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.38550299T>C | CA2665105954 | SCN5A | c.*22A>G (n.*22A>G) | gnomAD v4 |
| 3 | g.38550300C>A | CA2755900013 | SCN5A | c.*21G>T (n.*21G>T) | |
| 3 | g.38550301C>T | CA2665105956 | SCN5A | c.*20G>A (n.*20G>A) | gnomAD v4 |
| 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=) |