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.38606754_38606761dup | CA2697550812 | SCN5A | c.1051_1058dup (p.Ser354AlafsTer18) c.922_929dup (p.Ser311AlafsTer18) | ClinVar |
| 3 | g.38606757C>A | CA014246 | SCN5A | c.1052G>T (p.Gly351Val) c.923G>T (p.Gly308Val) | ClinVar dbSNP |
| 3 | g.38606757C= | CA1358586297 | SCN5A | c.1052G= (p.Gly351=) c.923G= (p.Gly308=) | |
| 3 | g.38606757C>G | CA352149682 | SCN5A | c.1052G>C (p.Gly351Ala) c.923G>C (p.Gly308Ala) | |
| 3 | g.38606757C>T | CA014239 | SCN5A | c.1052G>A (p.Gly351Asp) c.923G>A (p.Gly308Asp) | ClinVar dbSNP |
| 3 | g.38606758C>A | CA352149687 | SCN5A | c.1051G>T (p.Gly351Cys) c.922G>T (p.Gly308Cys) | |
| 3 | g.38606758C= | CA1358586298 | SCN5A | c.1051G= (p.Gly351=) c.922G= (p.Gly308=) | |
| 3 | g.38606758C>G | CA352149686 | SCN5A | c.1051G>C (p.Gly351Arg) c.922G>C (p.Gly308Arg) | ClinVar |
| 3 | g.38606758C>T | CA057059 | SCN5A | c.1051G>A (p.Gly351Ser) c.922G>A (p.Gly308Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606759G>A | CA014227 | SCN5A | c.1050C>T (p.His350=) c.921C>T (p.His307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606759G>C | CA10576618 | SCN5A | c.1050C>G (p.His350Gln) c.921C>G (p.His307Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606759G= | CA1358586299 | SCN5A | c.1050C= (p.His350=) c.921C= (p.His307=) | |
| 3 | g.38606759G>T | CA352149693 | SCN5A | c.1050C>A (p.His350Gln) c.921C>A (p.His307Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606760T>A | CA352149696 | SCN5A | c.1049A>T (p.His350Leu) c.920A>T (p.His307Leu) | |
| 3 | g.38606760T>C | CA352149698 | SCN5A | c.1049A>G (p.His350Arg) c.920A>G (p.His307Arg) | |
| 3 | g.38606760T>G | CA352149700 | SCN5A | c.1049A>C (p.His350Pro) c.920A>C (p.His307Pro) | |
| 3 | g.38606761G>A | CA352149703 | SCN5A | c.1048C>T (p.His350Tyr) c.919C>T (p.His307Tyr) | |
| 3 | g.38606761G>C | CA352149705 | SCN5A | c.1048C>G (p.His350Asp) c.919C>G (p.His307Asp) | |
| 3 | g.38606761G>T | CA352149707 | SCN5A | c.1048C>A (p.His350Asn) c.919C>A (p.His307Asn) | |
| 3 | g.38606762G>A | CA057043 | SCN5A | c.1047C>T (p.Asp349=) c.918C>T (p.Asp306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606762G>C | CA352149710 | SCN5A | c.1047C>G (p.Asp349Glu) c.918C>G (p.Asp306Glu) | ClinVar |
| 3 | g.38606762G= | CA1358586300 | SCN5A | c.1047C= (p.Asp349=) c.918C= (p.Asp306=) | |
| 3 | g.38606762G>T | CA352149711 | SCN5A | c.1047C>A (p.Asp349Glu) c.918C>A (p.Asp306Glu) | |
| 3 | g.38606763T>A | CA352149713 | SCN5A | c.1046A>T (p.Asp349Val) c.917A>T (p.Asp306Val) | |
| 3 | g.38606763T>C | CA352149717 | SCN5A | c.1046A>G (p.Asp349Gly) c.917A>G (p.Asp306Gly) | |
| 3 | g.38606763T>G | CA352149715 | SCN5A | c.1046A>C (p.Asp349Ala) c.917A>C (p.Asp306Ala) | |
| 3 | g.38606764C>A | CA352149719 | SCN5A | c.1045G>T (p.Asp349Tyr) c.916G>T (p.Asp306Tyr) | COSMIC |
| 3 | g.38606764C= | CA1358586302 | SCN5A | c.1045G= (p.Asp349=) c.916G= (p.Asp306=) | |
| 3 | g.38606764C>G | CA352149722 | SCN5A | c.1045G>C (p.Asp349His) c.916G>C (p.Asp306His) | |
| 3 | g.38606764C>T | CA057036 | SCN5A | c.1045G>A (p.Asp349Asn) c.916G>A (p.Asp306Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606764_38606765delinsCG | CA1358586301 | SCN5A | c.1044_1045delinsCG (p.Pro348=) c.915_916delinsCG (p.Pro305=) | |
| 3 | g.38606765G>A | CA014219 | SCN5A | c.1044C>T (p.Pro348=) c.915C>T (p.Pro305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606765G>C | CA433137818 | SCN5A | c.1044C>G (p.Pro348=) c.915C>G (p.Pro305=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606765G= | CA1358586303 | SCN5A | c.1044C= (p.Pro348=) c.915C= (p.Pro305=) | |
| 3 | g.38606765G>T | CA433137817 | SCN5A | c.1044C>A (p.Pro348=) c.915C>A (p.Pro305=) | |
| 3 | g.38606768del | CA1358586304 | SCN5A | c.1044del (p.Asp349ThrfsTer20) c.915del (p.Asp306ThrfsTer20) | ClinVar dbSNP |
| 3 | g.38606766G>A | CA352149727 | SCN5A | c.1043C>T (p.Pro348Leu) c.914C>T (p.Pro305Leu) | |
| 3 | g.38606766G>C | CA352149725 | SCN5A | c.1043C>G (p.Pro348Arg) c.914C>G (p.Pro305Arg) | |
| 3 | g.38606766G>T | CA352149729 | SCN5A | c.1043C>A (p.Pro348His) c.914C>A (p.Pro305His) | |
| 3 | g.38606767G>A | CA352149732 | SCN5A | c.1042C>T (p.Pro348Ser) c.913C>T (p.Pro305Ser) | |
| 3 | g.38606767G>C | CA057027 | SCN5A | c.1042C>G (p.Pro348Ala) c.913C>G (p.Pro305Ala) | dbSNP ExAC gnomAD v2 |
| 3 | g.38606767G= | CA1358586305 | SCN5A | c.1042C= (p.Pro348=) c.913C= (p.Pro305=) | |
| 3 | g.38606767G>T | CA352149740 | SCN5A | c.1042C>A (p.Pro348Thr) c.913C>A (p.Pro305Thr) | |
| 3 | g.38606768G>A | CA433137819 | SCN5A | c.1041C>T (p.Asn347=) c.912C>T (p.Asn304=) | |
| 3 | g.38606768G>C | CA352149749 | SCN5A | c.1041C>G (p.Asn347Lys) c.912C>G (p.Asn304Lys) | |
| 3 | g.38606768G>T | CA352149751 | SCN5A | c.1041C>A (p.Asn347Lys) c.912C>A (p.Asn304Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38606769T>A | CA352149753 | SCN5A | c.1040A>T (p.Asn347Ile) c.911A>T (p.Asn304Ile) | |
| 3 | g.38606769T>C | CA352149754 | SCN5A | c.1040A>G (p.Asn347Ser) c.911A>G (p.Asn304Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606769T>G | CA352149755 | SCN5A | c.1040A>C (p.Asn347Thr) c.911A>C (p.Asn304Thr) | |
| 3 | g.38606769T= | CA1358586306 | SCN5A | c.1040A= (p.Asn347=) c.911A= (p.Asn304=) | |
| 3 | g.38606770T>A | CA352149756 | SCN5A | c.1039A>T (p.Asn347Tyr) c.910A>T (p.Asn304Tyr) | |
| 3 | g.38606770T>C | CA352149758 | SCN5A | c.1039A>G (p.Asn347Asp) c.910A>G (p.Asn304Asp) | |
| 3 | g.38606770T>G | CA352149761 | SCN5A | c.1039A>C (p.Asn347His) c.910A>C (p.Asn304His) | |
| 3 | g.38606771C>A | CA352149766 | SCN5A | c.1038G>T (p.Glu346Asp) c.909G>T (p.Glu303Asp) | |
| 3 | g.38606771C>G | CA352149768 | SCN5A | c.1038G>C (p.Glu346Asp) c.909G>C (p.Glu303Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38606771C>T | CA433137820 | SCN5A | c.1038G>A (p.Glu346=) c.909G>A (p.Glu303=) | |
| 3 | g.38606772T>A | CA352149771 | SCN5A | c.1037A>T (p.Glu346Val) c.908A>T (p.Glu303Val) | dbSNP |
| 3 | g.38606772T>C | CA057004 | SCN5A | c.1037A>G (p.Glu346Gly) c.908A>G (p.Glu303Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606772T>G | CA352149772 | SCN5A | c.1037A>C (p.Glu346Ala) c.908A>C (p.Glu303Ala) | |
| 3 | g.38606772T= | CA1358586307 | SCN5A | c.1037A= (p.Glu346=) c.908A= (p.Glu303=) | |
| 3 | g.38606773C>A | CA352149776 | SCN5A | c.1036G>T (p.Glu346Ter) c.907G>T (p.Glu303Ter) | dbSNP |
| 3 | g.38606773C= | CA1358586308 | SCN5A | c.1036G= (p.Glu346=) c.907G= (p.Glu303=) | |
| 3 | g.38606773C>G | CA352149778 | SCN5A | c.1036G>C (p.Glu346Gln) c.907G>C (p.Glu303Gln) | |
| 3 | g.38606773C>T | CA056998 | SCN5A | c.1036G>A (p.Glu346Lys) c.907G>A (p.Glu303Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606774G>A | CA10587577 | SCN5A | c.1035C>T (p.Gly345=) c.906C>T (p.Gly302=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606774G>C | CA433137821 | SCN5A | c.1035C>G (p.Gly345=) c.906C>G (p.Gly302=) | |
| 3 | g.38606774G= | CA1358586309 | SCN5A | c.1035C= (p.Gly345=) c.906C= (p.Gly302=) | |
| 3 | g.38606774G>T | CA433137822 | SCN5A | c.1035C>A (p.Gly345=) c.906C>A (p.Gly302=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606775C>A | CA352149783 | SCN5A | c.1034G>T (p.Gly345Val) c.905G>T (p.Gly302Val) | |
| 3 | g.38606775C>G | CA352149785 | SCN5A | c.1034G>C (p.Gly345Ala) c.905G>C (p.Gly302Ala) | |
| 3 | g.38606775C>T | CA352149786 | SCN5A | c.1034G>A (p.Gly345Asp) c.905G>A (p.Gly302Asp) | ClinVar |
| 3 | g.38606776C>A | CA352149788 | SCN5A | c.1033G>T (p.Gly345Cys) c.904G>T (p.Gly302Cys) | |
| 3 | g.38606776C>G | CA352149790 | SCN5A | c.1033G>C (p.Gly345Arg) c.904G>C (p.Gly302Arg) | |
| 3 | g.38606776C>T | CA352149792 | SCN5A | c.1033G>A (p.Gly345Ser) c.904G>A (p.Gly302Ser) | |
| 3 | g.38606777T>A | CA433137823 | SCN5A | c.1032A>T (p.Ala344=) c.903A>T (p.Ala301=) | |
| 3 | g.38606777T>C | CA433137824 | SCN5A | c.1032A>G (p.Ala344=) c.903A>G (p.Ala301=) | ClinVar gnomAD v4 |
| 3 | g.38606777T>G | CA433137825 | SCN5A | c.1032A>C (p.Ala344=) c.903A>C (p.Ala301=) | |
| 3 | g.38606778G>A | CA352149796 | SCN5A | c.1031C>T (p.Ala344Val) c.902C>T (p.Ala301Val) | |
| 3 | g.38606778G>C | CA352149798 | SCN5A | c.1031C>G (p.Ala344Gly) c.902C>G (p.Ala301Gly) | |
| 3 | g.38606778G>T | CA352149795 | SCN5A | c.1031C>A (p.Ala344Glu) c.902C>A (p.Ala301Glu) | |
| 3 | g.38606779C>A | CA352149800 | SCN5A | c.1030G>T (p.Ala344Ser) c.901G>T (p.Ala301Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606779C= | CA1358586310 | SCN5A | c.1030G= (p.Ala344=) c.901G= (p.Ala301=) | |
| 3 | g.38606779C>G | CA352149802 | SCN5A | c.1030G>C (p.Ala344Pro) c.901G>C (p.Ala301Pro) | |
| 3 | g.38606779C>T | CA352149804 | SCN5A | c.1030G>A (p.Ala344Thr) c.901G>A (p.Ala301Thr) | |
| 3 | g.38606780C>A | CA352149808 | SCN5A | c.1029G>T (p.Lys343Asn) c.900G>T (p.Lys300Asn) | dbSNP |
| 3 | g.38606780C= | CA1358586311 | SCN5A | c.1029G= (p.Lys343=) c.900G= (p.Lys300=) | |
| 3 | g.38606780C>G | CA352149809 | SCN5A | c.1029G>C (p.Lys343Asn) c.900G>C (p.Lys300Asn) | |
| 3 | g.38606780C>T | CA433137826 | SCN5A | c.1029G>A (p.Lys343=) c.900G>A (p.Lys300=) | ClinVar dbSNP |
| 3 | g.38606781T>A | CA352149812 | SCN5A | c.1028A>T (p.Lys343Met) c.899A>T (p.Lys300Met) | |
| 3 | g.38606781T>C | CA352149814 | SCN5A | c.1028A>G (p.Lys343Arg) c.899A>G (p.Lys300Arg) | |
| 3 | g.38606781T>G | CA352149816 | SCN5A | c.1028A>C (p.Lys343Thr) c.899A>C (p.Lys300Thr) | |
| 3 | g.38606782T>A | CA352149818 | SCN5A | c.1027A>T (p.Lys343Ter) c.898A>T (p.Lys300Ter) | dbSNP |
| 3 | g.38606782T>C | CA352149819 | SCN5A | c.1027A>G (p.Lys343Glu) c.898A>G (p.Lys300Glu) | COSMIC COSMIC COSMIC |
| 3 | g.38606782T>G | CA352149820 | SCN5A | c.1027A>C (p.Lys343Gln) c.898A>C (p.Lys300Gln) | |
| 3 | g.38606782T= | CA1358586312 | SCN5A | c.1027A= (p.Lys343=) c.898A= (p.Lys300=) | |
| 3 | g.38606783T>A | CA433137832 | SCN5A | c.1026A>T (p.Leu342=) c.897A>T (p.Leu299=) | |
| 3 | g.38606783T>C | CA433137831 | SCN5A | c.1026A>G (p.Leu342=) c.897A>G (p.Leu299=) | |
| 3 | g.38606783T>G | CA433137830 | SCN5A | c.1026A>C (p.Leu342=) c.897A>C (p.Leu299=) | |
| 3 | g.38606784A>C | CA352149824 | SCN5A | c.1025T>G (p.Leu342Arg) c.896T>G (p.Leu299Arg) | |
| 3 | g.38606784A>G | CA352149826 | SCN5A | c.1025T>C (p.Leu342Pro) c.896T>C (p.Leu299Pro) | |
| 3 | g.38606784A>T | CA352149828 | SCN5A | c.1025T>A (p.Leu342Gln) c.896T>A (p.Leu299Gln) | |
| 3 | g.38606785G>A | CA433137834 | SCN5A | c.1024C>T (p.Leu342=) c.895C>T (p.Leu299=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606785G>C | CA352149830 | SCN5A | c.1024C>G (p.Leu342Val) c.895C>G (p.Leu299Val) | |
| 3 | g.38606785G= | CA1358586313 | SCN5A | c.1024C= (p.Leu342=) c.895C= (p.Leu299=) | |
| 3 | g.38606785G>T | CA352149832 | SCN5A | c.1024C>A (p.Leu342Ile) c.895C>A (p.Leu299Ile) | |
| 3 | g.38606786G>A | CA056985 | SCN5A | c.1023C>T (p.Cys341=) c.894C>T (p.Cys298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606786G>C | CA352149835 | SCN5A | c.1023C>G (p.Cys341Trp) c.894C>G (p.Cys298Trp) | |
| 3 | g.38606786G= | CA1358586314 | SCN5A | c.1023C= (p.Cys341=) c.894C= (p.Cys298=) | |
| 3 | g.38606786G>T | CA352149837 | SCN5A | c.1023C>A (p.Cys341Ter) c.894C>A (p.Cys298Ter) | dbSNP |
| 3 | g.38606787C>A | CA352149840 | SCN5A | c.1022G>T (p.Cys341Phe) c.893G>T (p.Cys298Phe) | |
| 3 | g.38606787C>G | CA352149842 | SCN5A | c.1022G>C (p.Cys341Ser) c.893G>C (p.Cys298Ser) | |
| 3 | g.38606787C>T | CA352149844 | SCN5A | c.1022G>A (p.Cys341Tyr) c.893G>A (p.Cys298Tyr) | |
| 3 | g.38606788A>C | CA352149847 | SCN5A | c.1021T>G (p.Cys341Gly) c.892T>G (p.Cys298Gly) | |
| 3 | g.38606788A>G | CA352149848 | SCN5A | c.1021T>C (p.Cys341Arg) c.892T>C (p.Cys298Arg) | |
| 3 | g.38606788A>T | CA352149850 | SCN5A | c.1021T>A (p.Cys341Ser) c.892T>A (p.Cys298Ser) | |
| 3 | g.38606789C>A | CA014199 | SCN5A | c.1020G>T (p.Arg340=) c.891G>T (p.Arg297=) | ClinVar dbSNP |
| 3 | g.38606789C= | CA1358586315 | SCN5A | c.1020G= (p.Arg340=) c.891G= (p.Arg297=) | |
| 3 | g.38606789C>G | CA433137842 | SCN5A | c.1020G>C (p.Arg340=) c.891G>C (p.Arg297=) | |
| 3 | g.38606789C>T | CA433137841 | SCN5A | c.1020G>A (p.Arg340=) c.891G>A (p.Arg297=) | |
| 3 | g.38606790C>A | CA72940630 | SCN5A | c.1019G>T (p.Arg340Leu) c.890G>T (p.Arg297Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606790C= | CA1358586316 | SCN5A | c.1019G= (p.Arg340=) c.890G= (p.Arg297=) | |
| 3 | g.38606790C>G | CA352149855 | SCN5A | c.1019G>C (p.Arg340Pro) c.890G>C (p.Arg297Pro) | |
| 3 | g.38606790C>T | CA014177 | SCN5A | c.1019G>A (p.Arg340Gln) c.890G>A (p.Arg297Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606791G>A | CA014168 | SCN5A | c.1018C>T (p.Arg340Trp) c.889C>T (p.Arg297Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606791G>C | CA352149859 | SCN5A | c.1018C>G (p.Arg340Gly) c.889C>G (p.Arg297Gly) | gnomAD v4 |
| 3 | g.38606791G= | CA1358586317 | SCN5A | c.1018C= (p.Arg340=) c.889C= (p.Arg297=) | |
| 3 | g.38606791G>T | CA433137843 | SCN5A | c.1018C>A (p.Arg340=) c.889C>A (p.Arg297=) | |
| 3 | g.38606792G>A | CA056958 | SCN5A | c.1017C>T (p.Tyr339=) c.888C>T (p.Tyr296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606792G>C | CA352149863 | SCN5A | c.1017C>G (p.Tyr339Ter) c.888C>G (p.Tyr296Ter) | |
| 3 | g.38606792G= | CA1358586318 | SCN5A | c.1017C= (p.Tyr339=) c.888C= (p.Tyr296=) | |
| 3 | g.38606792G>T | CA352149862 | SCN5A | c.1017C>A (p.Tyr339Ter) c.888C>A (p.Tyr296Ter) | |
| 3 | g.38606793T>A | CA352149866 | SCN5A | c.1016A>T (p.Tyr339Phe) c.887A>T (p.Tyr296Phe) | |
| 3 | g.38606793T>C | CA352149867 | SCN5A | c.1016A>G (p.Tyr339Cys) c.887A>G (p.Tyr296Cys) | |
| 3 | g.38606793T>G | CA352149869 | SCN5A | c.1016A>C (p.Tyr339Ser) c.887A>C (p.Tyr296Ser) | |
| 3 | g.38606794A= | CA1358586319 | SCN5A | c.1015T= (p.Tyr339=) c.886T= (p.Tyr296=) | |
| 3 | g.38606794A>C | CA352149871 | SCN5A | c.1015T>G (p.Tyr339Asp) c.886T>G (p.Tyr296Asp) | |
| 3 | g.38606794A>G | CA352149873 | SCN5A | c.1015T>C (p.Tyr339His) c.886T>C (p.Tyr296His) | ClinVar dbSNP |
| 3 | g.38606794A>T | CA352149874 | SCN5A | c.1015T>A (p.Tyr339Asn) c.886T>A (p.Tyr296Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38606795G>A | CA433137845 | SCN5A | c.1014C>T (p.Gly338=) c.885C>T (p.Gly295=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606795G>C | CA433137847 | SCN5A | c.1014C>G (p.Gly338=) c.885C>G (p.Gly295=) | |
| 3 | g.38606795G= | CA1358586320 | SCN5A | c.1014C= (p.Gly338=) c.885C= (p.Gly295=) | |
| 3 | g.38606795G>T | CA433137848 | SCN5A | c.1014C>A (p.Gly338=) c.885C>A (p.Gly295=) | COSMIC COSMIC COSMIC |
| 3 | g.38606796C>A | CA352149877 | SCN5A | c.1013G>T (p.Gly338Val) c.884G>T (p.Gly295Val) | |
| 3 | g.38606796C>G | CA352149879 | SCN5A | c.1013G>C (p.Gly338Ala) c.884G>C (p.Gly295Ala) | |
| 3 | g.38606796C>T | CA352149881 | SCN5A | c.1013G>A (p.Gly338Asp) c.884G>A (p.Gly295Asp) | |
| 3 | g.38606797C>A | CA352149882 | SCN5A | c.1012G>T (p.Gly338Cys) c.883G>T (p.Gly295Cys) | |
| 3 | g.38606797C>G | CA352149884 | SCN5A | c.1012G>C (p.Gly338Arg) c.883G>C (p.Gly295Arg) | gnomAD v4 |
| 3 | g.38606797C>T | CA352149886 | SCN5A | c.1012G>A (p.Gly338Ser) c.883G>A (p.Gly295Ser) | |
| 3 | g.38606798C>A | CA352149888 | SCN5A | c.1011G>T (p.Glu337Asp) c.882G>T (p.Glu294Asp) | |
| 3 | g.38606798C>G | CA352149889 | SCN5A | c.1011G>C (p.Glu337Asp) c.882G>C (p.Glu294Asp) | |
| 3 | g.38606798C>T | CA433137849 | SCN5A | c.1011G>A (p.Glu337=) c.882G>A (p.Glu294=) | dbSNP gnomAD v4 |
| 3 | g.38606799T>A | CA352149892 | SCN5A | c.1010A>T (p.Glu337Val) c.881A>T (p.Glu294Val) | |
| 3 | g.38606799T>C | CA352149893 | SCN5A | c.1010A>G (p.Glu337Gly) c.881A>G (p.Glu294Gly) | |
| 3 | g.38606799T>G | CA352149895 | SCN5A | c.1010A>C (p.Glu337Ala) c.881A>C (p.Glu294Ala) | |
| 3 | g.38606800C>A | CA352149896 | SCN5A | c.1009G>T (p.Glu337Ter) c.880G>T (p.Glu294Ter) | dbSNP |
| 3 | g.38606800C= | CA1358586321 | SCN5A | c.1009G= (p.Glu337=) c.880G= (p.Glu294=) | |
| 3 | g.38606800C>G | CA352149897 | SCN5A | c.1009G>C (p.Glu337Gln) c.880G>C (p.Glu294Gln) | gnomAD v4 |
| 3 | g.38606800C>T | CA352149898 | SCN5A | c.1009G>A (p.Glu337Lys) c.880G>A (p.Glu294Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38606801C>A | CA433137853 | SCN5A | c.1008G>T (p.Pro336=) c.879G>T (p.Pro293=) | |
| 3 | g.38606801C= | CA1358586322 | SCN5A | c.1008G= (p.Pro336=) c.879G= (p.Pro293=) | |
| 3 | g.38606801C>G | CA433137854 | SCN5A | c.1008G>C (p.Pro336=) c.879G>C (p.Pro293=) | |
| 3 | g.38606801C>T | CA014149 | SCN5A | c.1008G>A (p.Pro336=) c.879G>A (p.Pro293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38606802G>A | CA014136 | SCN5A | c.1007C>T (p.Pro336Leu) c.878C>T (p.Pro293Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606802G>C | CA352149902 | SCN5A | c.1007C>G (p.Pro336Arg) c.878C>G (p.Pro293Arg) | |
| 3 | g.38606802G= | CA1358586323 | SCN5A | c.1007C= (p.Pro336=) c.878C= (p.Pro293=) | |
| 3 | g.38606802G>T | CA352149904 | SCN5A | c.1007C>A (p.Pro336Gln) c.878C>A (p.Pro293Gln) | |
| 3 | g.38606803G>A | CA352149905 | SCN5A | c.1006C>T (p.Pro336Ser) c.877C>T (p.Pro293Ser) | |
| 3 | g.38606803G>C | CA352149906 | SCN5A | c.1006C>G (p.Pro336Ala) c.877C>G (p.Pro293Ala) | |
| 3 | g.38606803G>T | CA352149907 | SCN5A | c.1006C>A (p.Pro336Thr) c.877C>A (p.Pro293Thr) | |
| 3 | g.38606804A= | CA1358586324 | SCN5A | c.1005T= (p.Cys335=) c.876T= (p.Cys292=) | |
| 3 | g.38606804A>C | CA352149908 | SCN5A | c.1005T>G (p.Cys335Trp) c.876T>G (p.Cys292Trp) | |
| 3 | g.38606804A>G | CA056937 | SCN5A | c.1005T>C (p.Cys335=) c.876T>C (p.Cys292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606804A>T | CA352149910 | SCN5A | c.1005T>A (p.Cys335Ter) c.876T>A (p.Cys292Ter) | dbSNP |
| 3 | g.38606805C>A | CA352149911 | SCN5A | c.1004G>T (p.Cys335Phe) c.875G>T (p.Cys292Phe) | |
| 3 | g.38606805C>G | CA352149912 | SCN5A | c.1004G>C (p.Cys335Ser) c.875G>C (p.Cys292Ser) | |
| 3 | g.38606805C>T | CA352149913 | SCN5A | c.1004G>A (p.Cys335Tyr) c.875G>A (p.Cys292Tyr) | |
| 3 | g.38606806A>C | CA352149915 | SCN5A | c.1003T>G (p.Cys335Gly) c.874T>G (p.Cys292Gly) | |
| 3 | g.38606806A>G | CA352149916 | SCN5A | c.1003T>C (p.Cys335Arg) c.874T>C (p.Cys292Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38606806A>T | CA352149918 | SCN5A | c.1003T>A (p.Cys335Ser) c.874T>A (p.Cys292Ser) | ClinVar |
| 3 | g.38606807T>A | CA433137861 | SCN5A | c.1002A>T (p.Thr334=) c.873A>T (p.Thr291=) | |
| 3 | g.38606807T>C | CA056928 | SCN5A | c.1002A>G (p.Thr334=) c.873A>G (p.Thr291=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606807T>G | CA433137862 | SCN5A | c.1002A>C (p.Thr334=) c.873A>C (p.Thr291=) | |
| 3 | g.38606807T= | CA1358586325 | SCN5A | c.1002A= (p.Thr334=) c.873A= (p.Thr291=) | |
| 3 | g.38606808G>A | CA352149921 | SCN5A | c.1001C>T (p.Thr334Ile) c.872C>T (p.Thr291Ile) | ClinVar |
| 3 | g.38606808G>C | CA352149923 | SCN5A | c.1001C>G (p.Thr334Arg) c.872C>G (p.Thr291Arg) | |
| 3 | g.38606808G>T | CA352149924 | SCN5A | c.1001C>A (p.Thr334Lys) c.872C>A (p.Thr291Lys) | |
| 3 | g.38606809T>A | CA352149927 | SCN5A | c.1000A>T (p.Thr334Ser) c.871A>T (p.Thr291Ser) | |
| 3 | g.38606809T>C | CA352149928 | SCN5A | c.1000A>G (p.Thr334Ala) c.871A>G (p.Thr291Ala) | gnomAD v4 |
| 3 | g.38606809T>G | CA352149930 | SCN5A | c.1000A>C (p.Thr334Pro) c.871A>C (p.Thr291Pro) | |
| 3 | g.38606810C>A | CA433137863 | SCN5A | c.999G>T (p.Gly333=) c.870G>T (p.Gly290=) | COSMIC COSMIC COSMIC |
| 3 | g.38606810C>G | CA433137865 | SCN5A | c.999G>C (p.Gly333=) c.870G>C (p.Gly290=) | |
| 3 | g.38606810C>T | CA433137864 | SCN5A | c.999G>A (p.Gly333=) c.870G>A (p.Gly290=) | |
| 3 | g.38606811C>A | CA352149931 | SCN5A | c.999-1G>T (n.999-1G>T) c.870-1G>T (n.870-1G>T) | |
| 3 | g.38606811C>G | CA352149934 | SCN5A | c.999-1G>C (n.999-1G>C) c.870-1G>C (n.870-1G>C) | |
| 3 | g.38606811C>T | CA352149932 | SCN5A | c.999-1G>A (n.999-1G>A) c.870-1G>A (n.870-1G>A) | ClinVar dbSNP |
| 3 | g.38606812T>A | CA352149936 | SCN5A | c.999-2A>T (n.999-2A>T) c.870-2A>T (n.870-2A>T) | |
| 3 | g.38606812T>C | CA352149938 | SCN5A | c.999-2A>G (n.999-2A>G) c.870-2A>G (n.870-2A>G) | dbSNP |
| 3 | g.38606812T>G | CA352149939 | SCN5A | c.999-2A>C (n.999-2A>C) c.870-2A>C (n.870-2A>C) | |
| 3 | g.38606812T= | CA1358586326 | SCN5A | c.999-2A= (n.999-2A=) c.870-2A= (n.870-2A=) | |
| 3 | g.38606812_38606813insACCCAT | CA2665115542 | SCN5A | c.999-2_999-1insTGGGTA (n.999-2_999-1insTGGGTA) c.870-2_870-1insTGGGTA (n.870-2_870-1insTGGGTA) | gnomAD v4 |
| 3 | g.38606813G>A | CA2556760120 | SCN5A | c.999-3C>T (n.999-3C>T) c.870-3C>T (n.870-3C>T) | |
| 3 | g.38606814C= | CA1358586327 | SCN5A | c.999-4G= (n.999-4G=) c.870-4G= (n.870-4G=) | |
| 3 | g.38606814C>T | CA542273685 | SCN5A | c.999-4G>A (n.999-4G>A) c.870-4G>A (n.870-4G>A) | dbSNP gnomAD v2 |
| 3 | g.38606814_38606815insCC | CA2665115543 | SCN5A | c.999-4_999-3insGG (n.999-4_999-3insGG) c.870-4_870-3insGG (n.870-4_870-3insGG) | gnomAD v4 |
| 3 | g.38606816G= | CA1358586328 | SCN5A | c.999-6C= (n.999-6C=) c.870-6C= (n.870-6C=) | |
| 3 | g.38606816G>T | CA542273686 | SCN5A | c.999-6C>A (n.999-6C>A) c.870-6C>A (n.870-6C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606820C= | CA1358586329 | SCN5A | c.999-10G= (n.999-10G=) c.870-10G= (n.870-10G=) | |
| 3 | g.38606820C>T | CA906897368 | SCN5A | c.999-10G>A (n.999-10G>A) c.870-10G>A (n.870-10G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38606822C= | CA1358586330 | SCN5A | c.999-12G= (n.999-12G=) c.870-12G= (n.870-12G=) | |
| 3 | g.38606822C>T | CA72940644 | SCN5A | c.999-12G>A (n.999-12G>A) c.870-12G>A (n.870-12G>A) | dbSNP |
| 3 | g.38606824_38606826delinsCAG | CA1358586331 | SCN5A | c.999-16_999-14delinsCTG (n.999-16_999-14delinsCTG) c.870-16_870-14delinsCTG (n.870-16_870-14delinsCTG) | |
| 3 | g.38606828_38606829del | CA72940647 | SCN5A | c.999-16_999-15del (n.999-16_999-15del) c.870-16_870-15del (n.870-16_870-15del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606826_38606829del | CA2665115544 | SCN5A | c.999-18_999-15del (n.999-18_999-15del) c.870-18_870-15del (n.870-18_870-15del) | gnomAD v4 |
| 3 | g.38606826G>C | CA2665115545 | SCN5A | c.999-16C>G (n.999-16C>G) c.870-16C>G (n.870-16C>G) | gnomAD v4 |
| 3 | g.38606828G>A | CA542273687 | SCN5A | c.999-18C>T (n.999-18C>T) c.870-18C>T (n.870-18C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606828G= | CA1358586332 | SCN5A | c.999-18C= (n.999-18C=) c.870-18C= (n.870-18C=) | |
| 3 | g.38606829_38606841delinsACTTTGTTCCATG | CA1358586333 | SCN5A | c.999-31_999-19delinsCATGGAACAAAGT (n.999-31_999-19delinsCATGGAACAAAGT) c.870-31_870-19delinsCATGGAACAAAGT (n.870-31_870-19delinsCATGGAACAAAGT) | |
| 3 | g.38606830C>G | CA2665115546 | SCN5A | c.999-20G>C (n.999-20G>C) c.870-20G>C (n.870-20G>C) | gnomAD v4 |
| 3 | g.38606831_38606842del | CA1358586334 | SCN5A | c.999-31_999-20del (n.999-31_999-20del) c.870-31_870-20del (n.870-31_870-20del) | dbSNP |
| 3 | g.38606832_38606833del | CA2665115547 | SCN5A | c.999-22_999-21del (n.999-22_999-21del) c.870-22_870-21del (n.870-22_870-21del) | gnomAD v4 |
| 3 | g.38606832T>C | CA72940650 | SCN5A | c.999-22A>G (n.999-22A>G) c.870-22A>G (n.870-22A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606832T= | CA1358586335 | SCN5A | c.999-22A= (n.999-22A=) c.870-22A= (n.870-22A=) | |
| 3 | g.38606833T>C | CA542273688 | SCN5A | c.999-23A>G (n.999-23A>G) c.870-23A>G (n.870-23A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606833T= | CA1358586336 | SCN5A | c.999-23A= (n.999-23A=) c.870-23A= (n.870-23A=) | |
| 3 | g.38606834G>A | CA2577553511 | SCN5A | c.999-24C>T (n.999-24C>T) c.870-24C>T (n.870-24C>T) | gnomAD v4 |
| 3 | g.38606834G>T | CA2665115548 | SCN5A | c.999-24C>A (n.999-24C>A) c.870-24C>A (n.870-24C>A) | gnomAD v4 |
| 3 | g.38606835T>C | CA542273689 | SCN5A | c.999-25A>G (n.999-25A>G) c.870-25A>G (n.870-25A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606835T= | CA1358586337 | SCN5A | c.999-25A= (n.999-25A=) c.870-25A= (n.870-25A=) | |
| 3 | g.38606837C>A | CA2665115549 | SCN5A | c.999-27G>T (n.999-27G>T) c.870-27G>T (n.870-27G>T) | gnomAD v4 |
| 3 | g.38606837C>G | CA2665115551 | SCN5A | c.999-27G>C (n.999-27G>C) c.870-27G>C (n.870-27G>C) | gnomAD v4 |
| 3 | g.38606837C>T | CA2665115550 | SCN5A | c.999-27G>A (n.999-27G>A) c.870-27G>A (n.870-27G>A) | gnomAD v4 |
| 3 | g.38606838C= | CA1358586338 | SCN5A | c.999-28G= (n.999-28G=) c.870-28G= (n.870-28G=) | |
| 3 | g.38606838C>T | CA066051 | SCN5A | c.999-28G>A (n.999-28G>A) c.870-28G>A (n.870-28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606844_38606860del | CA2665115552 | SCN5A | c.999-46_999-30del (n.999-46_999-30del) c.870-46_870-30del (n.870-46_870-30del) | gnomAD v4 |
| 3 | g.38606842C>A | CA647554595 | SCN5A | c.999-32G>T (n.999-32G>T) c.870-32G>T (n.870-32G>T) | gnomAD v4 COSMIC |
| 3 | g.38606842C>T | CA2665115553 | SCN5A | c.999-32G>A (n.999-32G>A) c.870-32G>A (n.870-32G>A) | gnomAD v4 |
| 3 | g.38606843C>A | CA2665115554 | SCN5A | c.999-33G>T (n.999-33G>T) c.870-33G>T (n.870-33G>T) | gnomAD v4 |
| 3 | g.38606843C= | CA1358586339 | SCN5A | c.999-33G= (n.999-33G=) c.870-33G= (n.870-33G=) | |
| 3 | g.38606843C>T | CA066055 | SCN5A | c.999-33G>A (n.999-33G>A) c.870-33G>A (n.870-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606844G>A | CA066061 | SCN5A | c.999-34C>T (n.999-34C>T) c.870-34C>T (n.870-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606844G= | CA1358586340 | SCN5A | c.999-34C= (n.999-34C=) c.870-34C= (n.870-34C=) | |
| 3 | g.38606844G>T | CA066059 | SCN5A | c.999-34C>A (n.999-34C>A) c.870-34C>A (n.870-34C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38606846C= | CA1358586341 | SCN5A | c.999-36G= (n.999-36G=) c.870-36G= (n.870-36G=) | |
| 3 | g.38606847A= | CA1358586342 | SCN5A | c.999-37T= (n.999-37T=) c.870-37T= (n.870-37T=) | |
| 3 | g.38606847A>C | CA542273690 | SCN5A | c.999-37T>G (n.999-37T>G) c.870-37T>G (n.870-37T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606847dup | CA2319564 | SCN5A | c.999-37dup (n.999-37dup) c.870-37dup (n.870-37dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606847_38606848delinsAG | CA1358586343 | SCN5A | c.999-38_999-37delinsCT (n.999-38_999-37delinsCT) c.870-38_870-37delinsCT (n.870-38_870-37delinsCT) | |
| 3 | g.38606848G>A | CA2553373079 | SCN5A | c.999-38C>T (n.999-38C>T) c.870-38C>T (n.870-38C>T) | gnomAD v4 |
| 3 | g.38606851del | CA066067 | SCN5A | c.999-38del (n.999-38del) c.870-38del (n.870-38del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606849_38606856dup | CA2665115555 | SCN5A | c.999-46_999-39dup (n.999-46_999-39dup) c.870-46_870-39dup (n.870-46_870-39dup) | gnomAD v4 |
| 3 | g.38606850G>A | CA2665115557 | SCN5A | c.999-40C>T (n.999-40C>T) c.870-40C>T (n.870-40C>T) | gnomAD v4 |
| 3 | g.38606850G>T | CA2665115556 | SCN5A | c.999-40C>A (n.999-40C>A) c.870-40C>A (n.870-40C>A) | gnomAD v4 |
| 3 | g.38606851G>A | CA542273691 | SCN5A | c.999-41C>T (n.999-41C>T) c.870-41C>T (n.870-41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606851G>C | CA542273692 | SCN5A | c.999-41C>G (n.999-41C>G) c.870-41C>G (n.870-41C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606851G= | CA1358586344 | SCN5A | c.999-41C= (n.999-41C=) c.870-41C= (n.870-41C=) | |
| 3 | g.38606851G>T | CA2577553512 | SCN5A | c.999-41C>A (n.999-41C>A) c.870-41C>A (n.870-41C>A) | gnomAD v4 |
| 3 | g.38606853C>A | CA2577553513 | SCN5A | c.999-43G>T (n.999-43G>T) c.870-43G>T (n.870-43G>T) | gnomAD v4 |
| 3 | g.38606853C>G | CA2665115558 | SCN5A | c.999-43G>C (n.999-43G>C) c.870-43G>C (n.870-43G>C) | gnomAD v4 |
| 3 | g.38606854T>C | CA2665115559 | SCN5A | c.999-44A>G (n.999-44A>G) c.870-44A>G (n.870-44A>G) | gnomAD v4 |
| 3 | g.38606855G>A | CA2665115560 | SCN5A | c.999-45C>T (n.999-45C>T) c.870-45C>T (n.870-45C>T) | gnomAD v4 |
| 3 | g.38606855G>T | CA2665115561 | SCN5A | c.999-45C>A (n.999-45C>A) c.870-45C>A (n.870-45C>A) | gnomAD v4 |
| 3 | g.38606856C>A | CA2665115562 | SCN5A | c.999-46G>T (n.999-46G>T) c.870-46G>T (n.870-46G>T) | gnomAD v4 |