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.38597773_38597775del | CA2586971897 | SCN5A | c.2219_2221del (p.Asn740del) c.2090_2092del (p.Asn697del) | |
| 3 | g.38597772T>A | CA352144511 | SCN5A | c.2219A>T (p.Asn740Ile) c.2090A>T (p.Asn697Ile) | |
| 3 | g.38597772T>C | CA352144512 | SCN5A | c.2219A>G (p.Asn740Ser) c.2090A>G (p.Asn697Ser) | |
| 3 | g.38597772T>G | CA352144513 | SCN5A | c.2219A>C (p.Asn740Thr) c.2090A>C (p.Asn697Thr) | |
| 3 | g.38597773T>A | CA352144514 | SCN5A | c.2218A>T (p.Asn740Tyr) c.2089A>T (p.Asn697Tyr) | |
| 3 | g.38597773T>C | CA352144515 | SCN5A | c.2218A>G (p.Asn740Asp) c.2089A>G (p.Asn697Asp) | |
| 3 | g.38597773T>G | CA352144516 | SCN5A | c.2218A>C (p.Asn740His) c.2089A>C (p.Asn697His) | gnomAD v4 |
| 3 | g.38597774G>A | CA433332851 | SCN5A | c.2217C>T (p.Tyr739=) c.2088C>T (p.Tyr696=) | gnomAD v4 |
| 3 | g.38597774G>C | CA352144517 | SCN5A | c.2217C>G (p.Tyr739Ter) c.2088C>G (p.Tyr696Ter) | |
| 3 | g.38597774G>T | CA352144518 | SCN5A | c.2217C>A (p.Tyr739Ter) c.2088C>A (p.Tyr696Ter) | |
| 3 | g.38597775T>A | CA352144519 | SCN5A | c.2216A>T (p.Tyr739Phe) c.2087A>T (p.Tyr696Phe) | |
| 3 | g.38597775T>C | CA352144520 | SCN5A | c.2216A>G (p.Tyr739Cys) c.2087A>G (p.Tyr696Cys) | gnomAD v4 |
| 3 | g.38597775T>G | CA352144521 | SCN5A | c.2216A>C (p.Tyr739Ser) c.2087A>C (p.Tyr696Ser) | |
| 3 | g.38597776A>C | CA352144522 | SCN5A | c.2215T>G (p.Tyr739Asp) c.2086T>G (p.Tyr696Asp) | |
| 3 | g.38597776A>G | CA352144524 | SCN5A | c.2215T>C (p.Tyr739His) c.2086T>C (p.Tyr696His) | |
| 3 | g.38597776A>T | CA352144523 | SCN5A | c.2215T>A (p.Tyr739Asn) c.2086T>A (p.Tyr696Asn) | |
| 3 | g.38597777G>A | CA433332861 | SCN5A | c.2214C>T (p.His738=) c.2085C>T (p.His695=) | ClinVar gnomAD v4 |
| 3 | g.38597777G>C | CA352144525 | SCN5A | c.2214C>G (p.His738Gln) c.2085C>G (p.His695Gln) | |
| 3 | g.38597777G>T | CA352144526 | SCN5A | c.2214C>A (p.His738Gln) c.2085C>A (p.His695Gln) | |
| 3 | g.38597778T>A | CA352144527 | SCN5A | c.2213A>T (p.His738Leu) c.2084A>T (p.His695Leu) | |
| 3 | g.38597778T>C | CA352144528 | SCN5A | c.2213A>G (p.His738Arg) c.2084A>G (p.His695Arg) | |
| 3 | g.38597778T>G | CA352144529 | SCN5A | c.2213A>C (p.His738Pro) c.2084A>C (p.His695Pro) | ClinVar dbSNP |
| 3 | g.38597778T= | CA1358583921 | SCN5A | c.2213A= (p.His738=) c.2084A= (p.His695=) | |
| 3 | g.38597779G>A | CA352144530 | SCN5A | c.2212C>T (p.His738Tyr) c.2083C>T (p.His695Tyr) | dbSNP |
| 3 | g.38597779G>C | CA352144531 | SCN5A | c.2212C>G (p.His738Asp) c.2083C>G (p.His695Asp) | |
| 3 | g.38597779G= | CA1358583930 | SCN5A | c.2212C= (p.His738=) c.2083C= (p.His695=) | |
| 3 | g.38597779G>T | CA352144532 | SCN5A | c.2212C>A (p.His738Asn) c.2083C>A (p.His695Asn) | |
| 3 | g.38597780C>A | CA352144533 | SCN5A | c.2211G>T (p.Glu737Asp) c.2082G>T (p.Glu694Asp) | |
| 3 | g.38597780C= | CA1358583934 | SCN5A | c.2211G= (p.Glu737=) c.2082G= (p.Glu694=) | |
| 3 | g.38597780C>G | CA352144534 | SCN5A | c.2211G>C (p.Glu737Asp) c.2082G>C (p.Glu694Asp) | |
| 3 | g.38597780C>T | CA72932519 | SCN5A | c.2211G>A (p.Glu737=) c.2082G>A (p.Glu694=) | ClinVar dbSNP |
| 3 | g.38597781T>A | CA352144537 | SCN5A | c.2210A>T (p.Glu737Val) c.2081A>T (p.Glu694Val) | |
| 3 | g.38597781T>C | CA352144536 | SCN5A | c.2210A>G (p.Glu737Gly) c.2081A>G (p.Glu694Gly) | ClinVar dbSNP |
| 3 | g.38597781T>G | CA352144535 | SCN5A | c.2210A>C (p.Glu737Ala) c.2081A>C (p.Glu694Ala) | |
| 3 | g.38597781T= | CA1358583939 | SCN5A | c.2210A= (p.Glu737=) c.2081A= (p.Glu694=) | |
| 3 | g.38597782C>A | CA352144538 | SCN5A | c.2209G>T (p.Glu737Ter) c.2080G>T (p.Glu694Ter) | dbSNP |
| 3 | g.38597782C= | CA1358583942 | SCN5A | c.2209G= (p.Glu737=) c.2080G= (p.Glu694=) | |
| 3 | g.38597782C>G | CA352144539 | SCN5A | c.2209G>C (p.Glu737Gln) c.2080G>C (p.Glu694Gln) | |
| 3 | g.38597782C>T | CA015965 | SCN5A | c.2209G>A (p.Glu737Lys) c.2080G>A (p.Glu694Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38597783C>A | CA433332873 | SCN5A | c.2208G>T (p.Leu736=) c.2079G>T (p.Leu693=) | |
| 3 | g.38597783C>G | CA433332874 | SCN5A | c.2208G>C (p.Leu736=) c.2079G>C (p.Leu693=) | |
| 3 | g.38597783C>T | CA433332875 | SCN5A | c.2208G>A (p.Leu736=) c.2079G>A (p.Leu693=) | gnomAD v4 |
| 3 | g.38597784A= | CA1358583949 | SCN5A | c.2207T= (p.Leu736=) c.2078T= (p.Leu693=) | |
| 3 | g.38597784A>C | CA352144540 | SCN5A | c.2207T>G (p.Leu736Arg) c.2078T>G (p.Leu693Arg) | |
| 3 | g.38597784A>G | CA352144541 | SCN5A | c.2207T>C (p.Leu736Pro) c.2078T>C (p.Leu693Pro) | ClinVar dbSNP |
| 3 | g.38597784A>T | CA352144542 | SCN5A | c.2207T>A (p.Leu736Gln) c.2078T>A (p.Leu693Gln) | |
| 3 | g.38597785G>A | CA433332880 | SCN5A | c.2206C>T (p.Leu736=) c.2077C>T (p.Leu693=) | |
| 3 | g.38597785G>C | CA352144543 | SCN5A | c.2206C>G (p.Leu736Val) c.2077C>G (p.Leu693Val) | |
| 3 | g.38597785G>T | CA352144544 | SCN5A | c.2206C>A (p.Leu736Met) c.2077C>A (p.Leu693Met) | COSMIC COSMIC COSMIC |
| 3 | g.38597786C>A | CA433332881 | SCN5A | c.2205G>T (p.Ala735=) c.2076G>T (p.Ala692=) | |
| 3 | g.38597786C= | CA1358583953 | SCN5A | c.2205G= (p.Ala735=) c.2076G= (p.Ala692=) | |
| 3 | g.38597786C>G | CA433332882 | SCN5A | c.2205G>C (p.Ala735=) c.2076G>C (p.Ala692=) | |
| 3 | g.38597786C>T | CA059928 | SCN5A | c.2205G>A (p.Ala735=) c.2076G>A (p.Ala692=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597787G>A | CA015951 | SCN5A | c.2204C>T (p.Ala735Val) c.2075C>T (p.Ala692Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.38597787G>C | CA352144545 | SCN5A | c.2204C>G (p.Ala735Gly) c.2075C>G (p.Ala692Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38597787G= | CA1358583959 | SCN5A | c.2204C= (p.Ala735=) c.2075C= (p.Ala692=) | |
| 3 | g.38597787G>T | CA015938 | SCN5A | c.2204C>A (p.Ala735Glu) c.2075C>A (p.Ala692Glu) | ClinVar dbSNP |
| 3 | g.38597788C>A | CA352144546 | SCN5A | c.2203G>T (p.Ala735Ser) c.2074G>T (p.Ala692Ser) | |
| 3 | g.38597788C= | CA1358583968 | SCN5A | c.2203G= (p.Ala735=) c.2074G= (p.Ala692=) | |
| 3 | g.38597788C>G | CA352144547 | SCN5A | c.2203G>C (p.Ala735Pro) c.2074G>C (p.Ala692Pro) | |
| 3 | g.38597788C>T | CA015925 | SCN5A | c.2203G>A (p.Ala735Thr) c.2074G>A (p.Ala692Thr) | ClinVar dbSNP |
| 3 | g.38597789del | CA2665114221 | SCN5A | c.2203del (p.Ala735ArgfsTer7) c.2074del (p.Ala692ArgfsTer7) | gnomAD v4 |
| 3 | g.38597789C>A | CA352144548 | SCN5A | c.2202G>T (p.Met734Ile) c.2073G>T (p.Met691Ile) | |
| 3 | g.38597789C>G | CA352144550 | SCN5A | c.2202G>C (p.Met734Ile) c.2073G>C (p.Met691Ile) | |
| 3 | g.38597789C>T | CA352144549 | SCN5A | c.2202G>A (p.Met734Ile) c.2073G>A (p.Met691Ile) | |
| 3 | g.38597790A>C | CA352144551 | SCN5A | c.2201T>G (p.Met734Arg) c.2072T>G (p.Met691Arg) | |
| 3 | g.38597790A>G | CA352144552 | SCN5A | c.2201T>C (p.Met734Thr) c.2072T>C (p.Met691Thr) | |
| 3 | g.38597790A>T | CA352144553 | SCN5A | c.2201T>A (p.Met734Lys) c.2072T>A (p.Met691Lys) | |
| 3 | g.38597790dup | CA2586971898 | SCN5A | c.2201dup (p.Met734IlefsTer11) c.2072dup (p.Met691IlefsTer11) | |
| 3 | g.38597791_38597808del | CA2665114222 | SCN5A | c.2184_2201del (p.Leu729_Met734del) c.2055_2072del (p.Leu686_Met691del) | gnomAD v4 |
| 3 | g.38597791T>A | CA352144554 | SCN5A | c.2200A>T (p.Met734Leu) c.2071A>T (p.Met691Leu) | ClinVar |
| 3 | g.38597791T>C | CA352144555 | SCN5A | c.2200A>G (p.Met734Val) c.2071A>G (p.Met691Val) | gnomAD v4 |
| 3 | g.38597791T>G | CA352144556 | SCN5A | c.2200A>C (p.Met734Leu) c.2071A>C (p.Met691Leu) | |
| 3 | g.38597792G>A | CA059906 | SCN5A | c.2199C>T (p.Phe733=) c.2070C>T (p.Phe690=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38597792G>C | CA059897 | SCN5A | c.2199C>G (p.Phe733Leu) c.2070C>G (p.Phe690Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38597792G= | CA1358583975 | SCN5A | c.2199C= (p.Phe733=) c.2070C= (p.Phe690=) | |
| 3 | g.38597792G>T | CA72932536 | SCN5A | c.2199C>A (p.Phe733Leu) c.2070C>A (p.Phe690Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597793A>C | CA352144558 | SCN5A | c.2198T>G (p.Phe733Cys) c.2069T>G (p.Phe690Cys) | |
| 3 | g.38597793A>G | CA352144559 | SCN5A | c.2198T>C (p.Phe733Ser) c.2069T>C (p.Phe690Ser) | |
| 3 | g.38597793A>T | CA352144557 | SCN5A | c.2198T>A (p.Phe733Tyr) c.2069T>A (p.Phe690Tyr) | |
| 3 | g.38597793_38597795delinsAAG | CA1358583982 | SCN5A | c.2196_2198delinsCTT (p.Leu732=) c.2067_2069delinsCTT (p.Leu689=) | |
| 3 | g.38597794A>C | CA352144560 | SCN5A | c.2197T>G (p.Phe733Val) c.2068T>G (p.Phe690Val) | |
| 3 | g.38597794A>G | CA352144561 | SCN5A | c.2197T>C (p.Phe733Leu) c.2068T>C (p.Phe690Leu) | |
| 3 | g.38597794A>T | CA352144562 | SCN5A | c.2197T>A (p.Phe733Ile) c.2068T>A (p.Phe690Ile) | |
| 3 | g.38597796_38597797del | CA906864700 | SCN5A | c.2196_2197del (p.Phe733HisfsTer11) c.2067_2068del (p.Phe690HisfsTer11) | dbSNP |
| 3 | g.38597795G>A | CA433332898 | SCN5A | c.2196C>T (p.Leu732=) c.2067C>T (p.Leu689=) | COSMIC COSMIC COSMIC |
| 3 | g.38597795G>C | CA433332899 | SCN5A | c.2196C>G (p.Leu732=) c.2067C>G (p.Leu689=) | |
| 3 | g.38597795G>T | CA433332901 | SCN5A | c.2196C>A (p.Leu732=) c.2067C>A (p.Leu689=) | |
| 3 | g.38597796A= | CA1358583990 | SCN5A | c.2195T= (p.Leu732=) c.2066T= (p.Leu689=) | |
| 3 | g.38597796A>C | CA352144563 | SCN5A | c.2195T>G (p.Leu732Arg) c.2066T>G (p.Leu689Arg) | |
| 3 | g.38597796A>G | CA352144564 | SCN5A | c.2195T>C (p.Leu732Pro) c.2066T>C (p.Leu689Pro) | ClinVar dbSNP |
| 3 | g.38597796A>T | CA352144565 | SCN5A | c.2195T>A (p.Leu732His) c.2066T>A (p.Leu689His) | |
| 3 | g.38597797G>A | CA352144566 | SCN5A | c.2194C>T (p.Leu732Phe) c.2065C>T (p.Leu689Phe) | |
| 3 | g.38597797G>C | CA352144567 | SCN5A | c.2194C>G (p.Leu732Val) c.2065C>G (p.Leu689Val) | |
| 3 | g.38597797G>T | CA352144568 | SCN5A | c.2194C>A (p.Leu732Ile) c.2065C>A (p.Leu689Ile) | |
| 3 | g.38597798T>A | CA433332904 | SCN5A | c.2193A>T (p.Thr731=) c.2064A>T (p.Thr688=) | gnomAD v4 |
| 3 | g.38597798T>C | CA433332905 | SCN5A | c.2193A>G (p.Thr731=) c.2064A>G (p.Thr688=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597798T>G | CA433332906 | SCN5A | c.2193A>C (p.Thr731=) c.2064A>C (p.Thr688=) | |
| 3 | g.38597798T= | CA1358583993 | SCN5A | c.2193A= (p.Thr731=) c.2064A= (p.Thr688=) | |
| 3 | g.38597799G>A | CA015899 | SCN5A | c.2192C>T (p.Thr731Ile) c.2063C>T (p.Thr688Ile) | ClinVar dbSNP |
| 3 | g.38597799G>C | CA352144569 | SCN5A | c.2192C>G (p.Thr731Arg) c.2063C>G (p.Thr688Arg) | |
| 3 | g.38597799G= | CA1358583998 | SCN5A | c.2192C= (p.Thr731=) c.2063C= (p.Thr688=) | |
| 3 | g.38597799G>T | CA352144570 | SCN5A | c.2192C>A (p.Thr731Lys) c.2063C>A (p.Thr688Lys) | |
| 3 | g.38597800T>A | CA352144572 | SCN5A | c.2191A>T (p.Thr731Ser) c.2062A>T (p.Thr688Ser) | |
| 3 | g.38597800T>C | CA352144573 | SCN5A | c.2191A>G (p.Thr731Ala) c.2062A>G (p.Thr688Ala) | |
| 3 | g.38597800T>G | CA352144571 | SCN5A | c.2191A>C (p.Thr731Pro) c.2062A>C (p.Thr688Pro) | |
| 3 | g.38597801G>A | CA433332907 | SCN5A | c.2190C>T (p.Asn730=) c.2061C>T (p.Asn687=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38597801G>C | CA352144574 | SCN5A | c.2190C>G (p.Asn730Lys) c.2061C>G (p.Asn687Lys) | |
| 3 | g.38597801G= | CA1358584006 | SCN5A | c.2190C= (p.Asn730=) c.2061C= (p.Asn687=) | |
| 3 | g.38597801G>T | CA059886 | SCN5A | c.2190C>A (p.Asn730Lys) c.2061C>A (p.Asn687Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38597802T>A | CA352144575 | SCN5A | c.2189A>T (p.Asn730Ile) c.2060A>T (p.Asn687Ile) | |
| 3 | g.38597802T>C | CA352144576 | SCN5A | c.2189A>G (p.Asn730Ser) c.2060A>G (p.Asn687Ser) | gnomAD v4 |
| 3 | g.38597802T>G | CA352144577 | SCN5A | c.2189A>C (p.Asn730Thr) c.2060A>C (p.Asn687Thr) | |
| 3 | g.38597803T>A | CA352144580 | SCN5A | c.2188A>T (p.Asn730Tyr) c.2059A>T (p.Asn687Tyr) | |
| 3 | g.38597803T>C | CA352144578 | SCN5A | c.2188A>G (p.Asn730Asp) c.2059A>G (p.Asn687Asp) | |
| 3 | g.38597803T>G | CA352144579 | SCN5A | c.2188A>C (p.Asn730His) c.2059A>C (p.Asn687His) | |
| 3 | g.38597804G>A | CA433332921 | SCN5A | c.2187C>T (p.Leu729=) c.2058C>T (p.Leu686=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38597804G>C | CA433332922 | SCN5A | c.2187C>G (p.Leu729=) c.2058C>G (p.Leu686=) | |
| 3 | g.38597804G= | CA1358584009 | SCN5A | c.2187C= (p.Leu729=) c.2058C= (p.Leu686=) | |
| 3 | g.38597804G>T | CA433332923 | SCN5A | c.2187C>A (p.Leu729=) c.2058C>A (p.Leu686=) | |
| 3 | g.38597804_38597807delinsGAGT | CA1358584008 | SCN5A | c.2184_2187delinsACTC (p.Val728=) c.2055_2058delinsACTC (p.Val685=) | |
| 3 | g.38597805A>C | CA352144581 | SCN5A | c.2186T>G (p.Leu729Arg) c.2057T>G (p.Leu686Arg) | gnomAD v4 |
| 3 | g.38597805A>G | CA352144582 | SCN5A | c.2186T>C (p.Leu729Pro) c.2057T>C (p.Leu686Pro) | |
| 3 | g.38597805A>T | CA352144583 | SCN5A | c.2186T>A (p.Leu729His) c.2057T>A (p.Leu686His) | |
| 3 | g.38597806_38597808del | CA16609849 | SCN5A | c.2184_2186del (p.Leu729del) c.2055_2057del (p.Leu686del) | ClinVar dbSNP |
| 3 | g.38597806G>A | CA352144584 | SCN5A | c.2185C>T (p.Leu729Phe) c.2056C>T (p.Leu686Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38597806G>C | CA352144585 | SCN5A | c.2185C>G (p.Leu729Val) c.2056C>G (p.Leu686Val) | |
| 3 | g.38597806G= | CA1358584018 | SCN5A | c.2185C= (p.Leu729=) c.2056C= (p.Leu686=) | |
| 3 | g.38597806G>T | CA352144586 | SCN5A | c.2185C>A (p.Leu729Ile) c.2056C>A (p.Leu686Ile) | |
| 3 | g.38597807T>A | CA10587579 | SCN5A | c.2184A>T (p.Val728=) c.2055A>T (p.Val685=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38597807T>C | CA433332933 | SCN5A | c.2184A>G (p.Val728=) c.2055A>G (p.Val685=) | COSMIC COSMIC COSMIC |
| 3 | g.38597807T>G | CA433332931 | SCN5A | c.2184A>C (p.Val728=) c.2055A>C (p.Val685=) | |
| 3 | g.38597807T= | CA1358584027 | SCN5A | c.2184A= (p.Val728=) c.2055A= (p.Val685=) | |
| 3 | g.38597808A= | CA1358584032 | SCN5A | c.2183T= (p.Val728=) c.2054T= (p.Val685=) | |
| 3 | g.38597808A>C | CA352144588 | SCN5A | c.2183T>G (p.Val728Gly) c.2054T>G (p.Val685Gly) | |
| 3 | g.38597808A>G | CA352144587 | SCN5A | c.2183T>C (p.Val728Ala) c.2054T>C (p.Val685Ala) | |
| 3 | g.38597808A>T | CA72932543 | SCN5A | c.2183T>A (p.Val728Glu) c.2054T>A (p.Val685Glu) | dbSNP |
| 3 | g.38597809C>A | CA352144589 | SCN5A | c.2182G>T (p.Val728Leu) c.2053G>T (p.Val685Leu) | |
| 3 | g.38597809C= | CA1358584036 | SCN5A | c.2182G= (p.Val728=) c.2053G= (p.Val685=) | |
| 3 | g.38597809C>G | CA352144590 | SCN5A | c.2182G>C (p.Val728Leu) c.2053G>C (p.Val685Leu) | |
| 3 | g.38597809C>T | CA72932545 | SCN5A | c.2182G>A (p.Val728Ile) c.2053G>A (p.Val685Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597810G>A | CA059878 | SCN5A | c.2181C>T (p.Ile727=) c.2052C>T (p.Ile684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597810G>C | CA352144591 | SCN5A | c.2181C>G (p.Ile727Met) c.2052C>G (p.Ile684Met) | |
| 3 | g.38597810G= | CA1358584040 | SCN5A | c.2181C= (p.Ile727=) c.2052C= (p.Ile684=) | |
| 3 | g.38597810G>T | CA433332937 | SCN5A | c.2181C>A (p.Ile727=) c.2052C>A (p.Ile684=) | |
| 3 | g.38597811A>C | CA352144592 | SCN5A | c.2180T>G (p.Ile727Ser) c.2051T>G (p.Ile684Ser) | |
| 3 | g.38597811A>G | CA352144593 | SCN5A | c.2180T>C (p.Ile727Thr) c.2051T>C (p.Ile684Thr) | |
| 3 | g.38597811A>T | CA352144594 | SCN5A | c.2180T>A (p.Ile727Asn) c.2051T>A (p.Ile684Asn) | |
| 3 | g.38597812T>A | CA352144595 | SCN5A | c.2179A>T (p.Ile727Phe) c.2050A>T (p.Ile684Phe) | |
| 3 | g.38597812T>C | CA352144596 | SCN5A | c.2179A>G (p.Ile727Val) c.2050A>G (p.Ile684Val) | ClinVar gnomAD v4 |
| 3 | g.38597812T>G | CA352144597 | SCN5A | c.2179A>C (p.Ile727Leu) c.2050A>C (p.Ile684Leu) | |
| 3 | g.38597813G>A | CA433332942 | SCN5A | c.2178C>T (p.Cys726=) c.2049C>T (p.Cys683=) | |
| 3 | g.38597813G>C | CA352144598 | SCN5A | c.2178C>G (p.Cys726Trp) c.2049C>G (p.Cys683Trp) | |
| 3 | g.38597813G= | CA1358584045 | SCN5A | c.2178C= (p.Cys726=) c.2049C= (p.Cys683=) | |
| 3 | g.38597813G>T | CA352144599 | SCN5A | c.2178C>A (p.Cys726Ter) c.2049C>A (p.Cys683Ter) | dbSNP |
| 3 | g.38597814C>A | CA352144601 | SCN5A | c.2177G>T (p.Cys726Phe) c.2048G>T (p.Cys683Phe) | |
| 3 | g.38597814C= | CA1358584052 | SCN5A | c.2177G= (p.Cys726=) c.2048G= (p.Cys683=) | |
| 3 | g.38597814C>G | CA352144600 | SCN5A | c.2177G>C (p.Cys726Ser) c.2048G>C (p.Cys683Ser) | |
| 3 | g.38597814C>T | CA015890 | SCN5A | c.2177G>A (p.Cys726Tyr) c.2048G>A (p.Cys683Tyr) | ClinVar dbSNP |
| 3 | g.38597816_38597817dup | CA352003 | SCN5A | c.2176_2177dup (p.Ile727AlafsTer16) c.2047_2048dup (p.Ile684AlafsTer16) | ClinVar dbSNP |
| 3 | g.38597815A= | CA1358584058 | SCN5A | c.2176T= (p.Cys726=) c.2047T= (p.Cys683=) | |
| 3 | g.38597815A>C | CA352144602 | SCN5A | c.2176T>G (p.Cys726Gly) c.2047T>G (p.Cys683Gly) | dbSNP |
| 3 | g.38597815A>G | CA352144603 | SCN5A | c.2176T>C (p.Cys726Arg) c.2047T>C (p.Cys683Arg) | |
| 3 | g.38597815A>T | CA352144604 | SCN5A | c.2176T>A (p.Cys726Ser) c.2047T>A (p.Cys683Ser) | |
| 3 | g.38597816C>A | CA352144605 | SCN5A | c.2175G>T (p.Met725Ile) c.2046G>T (p.Met682Ile) | |
| 3 | g.38597816C>G | CA352144606 | SCN5A | c.2175G>C (p.Met725Ile) c.2046G>C (p.Met682Ile) | |
| 3 | g.38597816C>T | CA352144607 | SCN5A | c.2175G>A (p.Met725Ile) c.2046G>A (p.Met682Ile) | dbSNP gnomAD v4 |
| 3 | g.38597817A= | CA1358584060 | SCN5A | c.2174T= (p.Met725=) c.2045T= (p.Met682=) | |
| 3 | g.38597817A>C | CA352144608 | SCN5A | c.2174T>G (p.Met725Arg) c.2045T>G (p.Met682Arg) | |
| 3 | g.38597817A>G | CA352144609 | SCN5A | c.2174T>C (p.Met725Thr) c.2045T>C (p.Met682Thr) | ClinVar dbSNP |
| 3 | g.38597817A>T | CA352144610 | SCN5A | c.2174T>A (p.Met725Lys) c.2045T>A (p.Met682Lys) | |
| 3 | g.38597818T>A | CA352144611 | SCN5A | c.2173A>T (p.Met725Leu) c.2044A>T (p.Met682Leu) | |
| 3 | g.38597818T>C | CA352144612 | SCN5A | c.2173A>G (p.Met725Val) c.2044A>G (p.Met682Val) | |
| 3 | g.38597818T>G | CA352144613 | SCN5A | c.2173A>C (p.Met725Leu) c.2044A>C (p.Met682Leu) | |
| 3 | g.38597819del | CA2586971899 | SCN5A | c.2172del (p.Met725CysfsTer17) c.2043del (p.Met682CysfsTer17) | |
| 3 | g.38597819A= | CA1358584063 | SCN5A | c.2172T= (p.Thr724=) c.2043T= (p.Thr681=) | |
| 3 | g.38597819A>C | CA433332958 | SCN5A | c.2172T>G (p.Thr724=) c.2043T>G (p.Thr681=) | |
| 3 | g.38597819A>G | CA059868 | SCN5A | c.2172T>C (p.Thr724=) c.2043T>C (p.Thr681=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597819A>T | CA72932557 | SCN5A | c.2172T>A (p.Thr724=) c.2043T>A (p.Thr681=) | dbSNP |
| 3 | g.38597820G>A | CA059859 | SCN5A | c.2171C>T (p.Thr724Ile) c.2042C>T (p.Thr681Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597820G>C | CA352144614 | SCN5A | c.2171C>G (p.Thr724Ser) c.2042C>G (p.Thr681Ser) | |
| 3 | g.38597820G= | CA1358584071 | SCN5A | c.2171C= (p.Thr724=) c.2042C= (p.Thr681=) | |
| 3 | g.38597820G>T | CA352144615 | SCN5A | c.2171C>A (p.Thr724Asn) c.2042C>A (p.Thr681Asn) | |
| 3 | g.38597821T>A | CA352144616 | SCN5A | c.2170A>T (p.Thr724Ser) c.2041A>T (p.Thr681Ser) | |
| 3 | g.38597821T>C | CA352144617 | SCN5A | c.2170A>G (p.Thr724Ala) c.2041A>G (p.Thr681Ala) | gnomAD v4 |
| 3 | g.38597821T>G | CA352144618 | SCN5A | c.2170A>C (p.Thr724Pro) c.2041A>C (p.Thr681Pro) | |
| 3 | g.38597822G>A | CA433332965 | SCN5A | c.2169C>T (p.Ile723=) c.2040C>T (p.Ile680=) | |
| 3 | g.38597822G>C | CA352144619 | SCN5A | c.2169C>G (p.Ile723Met) c.2040C>G (p.Ile680Met) | |
| 3 | g.38597822G>T | CA433332963 | SCN5A | c.2169C>A (p.Ile723=) c.2040C>A (p.Ile680=) | |
| 3 | g.38597823A>C | CA352144620 | SCN5A | c.2168T>G (p.Ile723Ser) c.2039T>G (p.Ile680Ser) | |
| 3 | g.38597823A>G | CA352144621 | SCN5A | c.2168T>C (p.Ile723Thr) c.2039T>C (p.Ile680Thr) | |
| 3 | g.38597823A>T | CA352144622 | SCN5A | c.2168T>A (p.Ile723Asn) c.2039T>A (p.Ile680Asn) | |
| 3 | g.38597824T>A | CA352144623 | SCN5A | c.2167A>T (p.Ile723Phe) c.2038A>T (p.Ile680Phe) | |
| 3 | g.38597824T>C | CA352144624 | SCN5A | c.2167A>G (p.Ile723Val) c.2038A>G (p.Ile680Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38597824T>G | CA352144625 | SCN5A | c.2167A>C (p.Ile723Leu) c.2038A>C (p.Ile680Leu) | |
| 3 | g.38597824T= | CA1358584074 | SCN5A | c.2167A= (p.Ile723=) c.2038A= (p.Ile680=) | |
| 3 | g.38597825G>A | CA433332975 | SCN5A | c.2166C>T (p.Thr722=) c.2037C>T (p.Thr679=) | |
| 3 | g.38597825G>C | CA433332979 | SCN5A | c.2166C>G (p.Thr722=) c.2037C>G (p.Thr679=) | |
| 3 | g.38597825G>T | CA433332981 | SCN5A | c.2166C>A (p.Thr722=) c.2037C>A (p.Thr679=) | |
| 3 | g.38597826G>A | CA352144628 | SCN5A | c.2165C>T (p.Thr722Ile) c.2036C>T (p.Thr679Ile) | COSMIC COSMIC COSMIC |
| 3 | g.38597826G>C | CA352144626 | SCN5A | c.2165C>G (p.Thr722Ser) c.2036C>G (p.Thr679Ser) | |
| 3 | g.38597826G>T | CA352144627 | SCN5A | c.2165C>A (p.Thr722Asn) c.2036C>A (p.Thr679Asn) | |
| 3 | g.38597827T>A | CA352144629 | SCN5A | c.2164A>T (p.Thr722Ser) c.2035A>T (p.Thr679Ser) | |
| 3 | g.38597827T>C | CA352144630 | SCN5A | c.2164A>G (p.Thr722Ala) c.2035A>G (p.Thr679Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38597827T>G | CA352144631 | SCN5A | c.2164A>C (p.Thr722Pro) c.2035A>C (p.Thr679Pro) | |
| 3 | g.38597827T= | CA1358584077 | SCN5A | c.2164A= (p.Thr722=) c.2035A= (p.Thr679=) | |
| 3 | g.38597828G>A | CA433332999 | SCN5A | c.2163C>T (p.Leu721=) c.2034C>T (p.Leu678=) | |
| 3 | g.38597828G>C | CA433333002 | SCN5A | c.2163C>G (p.Leu721=) c.2034C>G (p.Leu678=) | |
| 3 | g.38597828G>T | CA433333001 | SCN5A | c.2163C>A (p.Leu721=) c.2034C>A (p.Leu678=) | |
| 3 | g.38597829A>C | CA352144632 | SCN5A | c.2162T>G (p.Leu721Arg) c.2033T>G (p.Leu678Arg) | |
| 3 | g.38597829A>G | CA352144633 | SCN5A | c.2162T>C (p.Leu721Pro) c.2033T>C (p.Leu678Pro) | |
| 3 | g.38597829A>T | CA352144634 | SCN5A | c.2162T>A (p.Leu721His) c.2033T>A (p.Leu678His) | |
| 3 | g.38597830G>A | CA352144635 | SCN5A | c.2161C>T (p.Leu721Phe) c.2032C>T (p.Leu678Phe) | |
| 3 | g.38597830G>C | CA352144636 | SCN5A | c.2161C>G (p.Leu721Val) c.2032C>G (p.Leu678Val) | |
| 3 | g.38597830G>T | CA352144637 | SCN5A | c.2161C>A (p.Leu721Ile) c.2032C>A (p.Leu678Ile) | |
| 3 | g.38597831G>A | CA433333011 | SCN5A | c.2160C>T (p.Asp720=) c.2031C>T (p.Asp677=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38597831G>C | CA352144638 | SCN5A | c.2160C>G (p.Asp720Glu) c.2031C>G (p.Asp677Glu) | |
| 3 | g.38597831G= | CA1358584081 | SCN5A | c.2160C= (p.Asp720=) c.2031C= (p.Asp677=) | |
| 3 | g.38597831G>T | CA352144639 | SCN5A | c.2160C>A (p.Asp720Glu) c.2031C>A (p.Asp677Glu) | |
| 3 | g.38597832T>A | CA352144642 | SCN5A | c.2159A>T (p.Asp720Val) c.2030A>T (p.Asp677Val) | |
| 3 | g.38597832T>C | CA352144641 | SCN5A | c.2159A>G (p.Asp720Gly) c.2030A>G (p.Asp677Gly) | |
| 3 | g.38597832T>G | CA352144640 | SCN5A | c.2159A>C (p.Asp720Ala) c.2030A>C (p.Asp677Ala) | |
| 3 | g.38597833C>A | CA352144643 | SCN5A | c.2158G>T (p.Asp720Tyr) c.2029G>T (p.Asp677Tyr) | |
| 3 | g.38597833C>G | CA352144645 | SCN5A | c.2158G>C (p.Asp720His) c.2029G>C (p.Asp677His) | |
| 3 | g.38597833C>T | CA352144644 | SCN5A | c.2158G>A (p.Asp720Asn) c.2029G>A (p.Asp677Asn) | |
| 3 | g.38597834A= | CA1358584083 | SCN5A | c.2157T= (p.Thr719=) c.2028T= (p.Thr676=) | |
| 3 | g.38597834A>C | CA433333018 | SCN5A | c.2157T>G (p.Thr719=) c.2028T>G (p.Thr676=) | |
| 3 | g.38597834A>G | CA72932563 | SCN5A | c.2157T>C (p.Thr719=) c.2028T>C (p.Thr676=) | dbSNP |
| 3 | g.38597834A>T | CA433333019 | SCN5A | c.2157T>A (p.Thr719=) c.2028T>A (p.Thr676=) | |
| 3 | g.38597835G>A | CA352144646 | SCN5A | c.2156C>T (p.Thr719Ile) c.2027C>T (p.Thr676Ile) | |
| 3 | g.38597835G>C | CA352144647 | SCN5A | c.2156C>G (p.Thr719Ser) c.2027C>G (p.Thr676Ser) | |
| 3 | g.38597835G>T | CA352144648 | SCN5A | c.2156C>A (p.Thr719Asn) c.2027C>A (p.Thr676Asn) | |
| 3 | g.38597836T>A | CA352144649 | SCN5A | c.2155A>T (p.Thr719Ser) c.2026A>T (p.Thr676Ser) | |
| 3 | g.38597836T>C | CA352144650 | SCN5A | c.2155A>G (p.Thr719Ala) c.2026A>G (p.Thr676Ala) | |
| 3 | g.38597836T>G | CA352144651 | SCN5A | c.2155A>C (p.Thr719Pro) c.2026A>C (p.Thr676Pro) | |
| 3 | g.38597837A= | CA1358584086 | SCN5A | c.2154T= (p.Phe718=) c.2025T= (p.Phe675=) | |
| 3 | g.38597837A>C | CA059850 | SCN5A | c.2154T>G (p.Phe718Leu) c.2025T>G (p.Phe675Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38597837A>G | CA433333029 | SCN5A | c.2154T>C (p.Phe718=) c.2025T>C (p.Phe675=) | |
| 3 | g.38597837A>T | CA352144652 | SCN5A | c.2154T>A (p.Phe718Leu) c.2025T>A (p.Phe675Leu) | |
| 3 | g.38597838A>C | CA352144653 | SCN5A | c.2153T>G (p.Phe718Cys) c.2024T>G (p.Phe675Cys) | |
| 3 | g.38597838A>G | CA352144654 | SCN5A | c.2153T>C (p.Phe718Ser) c.2024T>C (p.Phe675Ser) | |
| 3 | g.38597838A>T | CA352144655 | SCN5A | c.2153T>A (p.Phe718Tyr) c.2024T>A (p.Phe675Tyr) | |
| 3 | g.38597839A>C | CA352144658 | SCN5A | c.2152T>G (p.Phe718Val) c.2023T>G (p.Phe675Val) | |
| 3 | g.38597839A>G | CA352144657 | SCN5A | c.2152T>C (p.Phe718Leu) c.2023T>C (p.Phe675Leu) | |
| 3 | g.38597839A>T | CA352144656 | SCN5A | c.2152T>A (p.Phe718Ile) c.2023T>A (p.Phe675Ile) | |
| 3 | g.38597840C>A | CA433333039 | SCN5A | c.2151G>T (p.Pro717=) c.2022G>T (p.Pro674=) | |
| 3 | g.38597840C= | CA1358584090 | SCN5A | c.2151G= (p.Pro717=) c.2022G= (p.Pro674=) | |
| 3 | g.38597840C>G | CA433333041 | SCN5A | c.2151G>C (p.Pro717=) c.2022G>C (p.Pro674=) | |
| 3 | g.38597840C>T | CA059839 | SCN5A | c.2151G>A (p.Pro717=) c.2022G>A (p.Pro674=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38597841G>A | CA015882 | SCN5A | c.2150C>T (p.Pro717Leu) c.2021C>T (p.Pro674Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597841G>C | CA352144659 | SCN5A | c.2150C>G (p.Pro717Arg) c.2021C>G (p.Pro674Arg) | |
| 3 | g.38597841G= | CA1358584095 | SCN5A | c.2150C= (p.Pro717=) c.2021C= (p.Pro674=) | |
| 3 | g.38597841G>T | CA352144660 | SCN5A | c.2150C>A (p.Pro717Gln) c.2021C>A (p.Pro674Gln) | |
| 3 | g.38597842G>A | CA352144661 | SCN5A | c.2149C>T (p.Pro717Ser) c.2020C>T (p.Pro674Ser) | |
| 3 | g.38597842G>C | CA352144662 | SCN5A | c.2149C>G (p.Pro717Ala) c.2020C>G (p.Pro674Ala) | |
| 3 | g.38597842G>T | CA352144663 | SCN5A | c.2149C>A (p.Pro717Thr) c.2020C>A (p.Pro674Thr) | gnomAD v4 |
| 3 | g.38597843G>A | CA433333050 | SCN5A | c.2148C>T (p.Asp716=) c.2019C>T (p.Asp673=) | |
| 3 | g.38597843G>C | CA352144664 | SCN5A | c.2148C>G (p.Asp716Glu) c.2019C>G (p.Asp673Glu) | gnomAD v4 |
| 3 | g.38597843G>T | CA352144665 | SCN5A | c.2148C>A (p.Asp716Glu) c.2019C>A (p.Asp673Glu) | |
| 3 | g.38597844T>A | CA352144666 | SCN5A | c.2147A>T (p.Asp716Val) c.2018A>T (p.Asp673Val) | |
| 3 | g.38597844T>C | CA352144667 | SCN5A | c.2147A>G (p.Asp716Gly) c.2018A>G (p.Asp673Gly) | |
| 3 | g.38597844T>G | CA352144668 | SCN5A | c.2147A>C (p.Asp716Ala) c.2018A>C (p.Asp673Ala) | |
| 3 | g.38597845C>A | CA352144671 | SCN5A | c.2146G>T (p.Asp716Tyr) c.2017G>T (p.Asp673Tyr) | |
| 3 | g.38597845C>G | CA352144670 | SCN5A | c.2146G>C (p.Asp716His) c.2017G>C (p.Asp673His) | gnomAD v4 |
| 3 | g.38597845C>T | CA352144669 | SCN5A | c.2146G>A (p.Asp716Asn) c.2017G>A (p.Asp673Asn) | |
| 3 | g.38597846C>A | CA352144672 | SCN5A | c.2145G>T (p.Met715Ile) c.2016G>T (p.Met672Ile) | COSMIC COSMIC COSMIC |
| 3 | g.38597846C= | CA1358584104 | SCN5A | c.2145G= (p.Met715=) c.2016G= (p.Met672=) | |
| 3 | g.38597846C>G | CA352144673 | SCN5A | c.2145G>C (p.Met715Ile) c.2016G>C (p.Met672Ile) | |
| 3 | g.38597846C>T | CA352144674 | SCN5A | c.2145G>A (p.Met715Ile) c.2016G>A (p.Met672Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597847A= | CA1358584108 | SCN5A | c.2144T= (p.Met715=) c.2015T= (p.Met672=) | |
| 3 | g.38597847A>C | CA352144675 | SCN5A | c.2144T>G (p.Met715Arg) c.2015T>G (p.Met672Arg) | gnomAD v4 |
| 3 | g.38597847A>G | CA352144676 | SCN5A | c.2144T>C (p.Met715Thr) c.2015T>C (p.Met672Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38597847A>T | CA352144677 | SCN5A | c.2144T>A (p.Met715Lys) c.2015T>A (p.Met672Lys) | |
| 3 | g.38597848T>A | CA352144678 | SCN5A | c.2143A>T (p.Met715Leu) c.2014A>T (p.Met672Leu) | |
| 3 | g.38597848T>C | CA352144679 | SCN5A | c.2143A>G (p.Met715Val) c.2014A>G (p.Met672Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38597848T>G | CA352144680 | SCN5A | c.2143A>C (p.Met715Leu) c.2014A>C (p.Met672Leu) | |
| 3 | g.38597848T= | CA1358584112 | SCN5A | c.2143A= (p.Met715=) c.2014A= (p.Met672=) | |
| 3 | g.38597849G>A | CA433333063 | SCN5A | c.2142C>T (p.Val714=) c.2013C>T (p.Val671=) | |
| 3 | g.38597849G>C | CA433333066 | SCN5A | c.2142C>G (p.Val714=) c.2013C>G (p.Val671=) | |
| 3 | g.38597849G>T | CA433333065 | SCN5A | c.2142C>A (p.Val714=) c.2013C>A (p.Val671=) | gnomAD v4 |
| 3 | g.38597850A= | CA1358584119 | SCN5A | c.2141T= (p.Val714=) c.2012T= (p.Val671=) | |
| 3 | g.38597850A>C | CA352144681 | SCN5A | c.2141T>G (p.Val714Gly) c.2012T>G (p.Val671Gly) | |
| 3 | g.38597850A>G | CA059817 | SCN5A | c.2141T>C (p.Val714Ala) c.2012T>C (p.Val671Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597850A>T | CA352144682 | SCN5A | c.2141T>A (p.Val714Asp) c.2012T>A (p.Val671Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38597851C>A | CA352144685 | SCN5A | c.2140G>T (p.Val714Phe) c.2011G>T (p.Val671Phe) | |
| 3 | g.38597851C>G | CA352144684 | SCN5A | c.2140G>C (p.Val714Leu) c.2011G>C (p.Val671Leu) | |
| 3 | g.38597851C>T | CA352144683 | SCN5A | c.2140G>A (p.Val714Ile) c.2011G>A (p.Val671Ile) | |
| 3 | g.38597852C>A | CA433333079 | SCN5A | c.2139G>T (p.Val713=) c.2010G>T (p.Val670=) | gnomAD v4 |
| 3 | g.38597852C>G | CA433333080 | SCN5A | c.2139G>C (p.Val713=) c.2010G>C (p.Val670=) | |
| 3 | g.38597852C>T | CA433333081 | SCN5A | c.2139G>A (p.Val713=) c.2010G>A (p.Val670=) | |
| 3 | g.38597853A>C | CA352144686 | SCN5A | c.2138T>G (p.Val713Gly) c.2009T>G (p.Val670Gly) | |
| 3 | g.38597853A>G | CA352144687 | SCN5A | c.2138T>C (p.Val713Ala) c.2009T>C (p.Val670Ala) | COSMIC COSMIC COSMIC |
| 3 | g.38597853A>T | CA352144688 | SCN5A | c.2138T>A (p.Val713Glu) c.2009T>A (p.Val670Glu) | |
| 3 | g.38597854C>A | CA352144689 | SCN5A | c.2137G>T (p.Val713Leu) c.2008G>T (p.Val670Leu) | |
| 3 | g.38597854C>G | CA352144690 | SCN5A | c.2137G>C (p.Val713Leu) c.2008G>C (p.Val670Leu) | |
| 3 | g.38597854C>T | CA352144691 | SCN5A | c.2137G>A (p.Val713Met) c.2008G>A (p.Val670Met) | |
| 3 | g.38597855C>A | CA352144692 | SCN5A | c.2136G>T (p.Leu712Phe) c.2007G>T (p.Leu669Phe) | |
| 3 | g.38597855C>G | CA352144693 | SCN5A | c.2136G>C (p.Leu712Phe) c.2007G>C (p.Leu669Phe) | |
| 3 | g.38597855C>T | CA433333089 | SCN5A | c.2136G>A (p.Leu712=) c.2007G>A (p.Leu669=) | ClinVar gnomAD v4 |
| 3 | g.38597856A= | CA1358584123 | SCN5A | c.2135T= (p.Leu712=) c.2006T= (p.Leu669=) | |
| 3 | g.38597856A>C | CA352144694 | SCN5A | c.2135T>G (p.Leu712Trp) c.2006T>G (p.Leu669Trp) | |
| 3 | g.38597856A>G | CA352144695 | SCN5A | c.2135T>C (p.Leu712Ser) c.2006T>C (p.Leu669Ser) | |
| 3 | g.38597856A>T | CA352144696 | SCN5A | c.2135T>A (p.Leu712Ter) c.2006T>A (p.Leu669Ter) | dbSNP |
| 3 | g.38597857A>C | CA352144697 | SCN5A | c.2134T>G (p.Leu712Val) c.2005T>G (p.Leu669Val) | ClinVar |
| 3 | g.38597857A>G | CA433333093 | SCN5A | c.2134T>C (p.Leu712=) c.2005T>C (p.Leu669=) | gnomAD v4 |
| 3 | g.38597857A>T | CA352144698 | SCN5A | c.2134T>A (p.Leu712Met) c.2005T>A (p.Leu669Met) | |
| 3 | g.38597858C>A | CA352144699 | SCN5A | c.2133G>T (p.Lys711Asn) c.2004G>T (p.Lys668Asn) | |
| 3 | g.38597858C>G | CA352144700 | SCN5A | c.2133G>C (p.Lys711Asn) c.2004G>C (p.Lys668Asn) | |
| 3 | g.38597858C>T | CA433333094 | SCN5A | c.2133G>A (p.Lys711=) c.2004G>A (p.Lys668=) | |
| 3 | g.38597859T>A | CA352144701 | SCN5A | c.2132A>T (p.Lys711Met) c.2003A>T (p.Lys668Met) | |
| 3 | g.38597859T>C | CA352144703 | SCN5A | c.2132A>G (p.Lys711Arg) c.2003A>G (p.Lys668Arg) | ClinVar |
| 3 | g.38597859T>G | CA352144702 | SCN5A | c.2132A>C (p.Lys711Thr) c.2003A>C (p.Lys668Thr) | |
| 3 | g.38597860T>A | CA352144704 | SCN5A | c.2131A>T (p.Lys711Ter) c.2002A>T (p.Lys668Ter) | dbSNP |
| 3 | g.38597860T>C | CA352144706 | SCN5A | c.2131A>G (p.Lys711Glu) c.2002A>G (p.Lys668Glu) | |
| 3 | g.38597860T>G | CA352144705 | SCN5A | c.2131A>C (p.Lys711Gln) c.2002A>C (p.Lys668Gln) | |
| 3 | g.38597860T= | CA1358584126 | SCN5A | c.2131A= (p.Lys711=) c.2002A= (p.Lys668=) | |
| 3 | g.38597861C>A | CA433333100 | SCN5A | c.2130G>T (p.Val710=) c.2001G>T (p.Val667=) | |
| 3 | g.38597861C= | CA1358584128 | SCN5A | c.2130G= (p.Val710=) c.2001G= (p.Val667=) | |
| 3 | g.38597861C>G | CA433333101 | SCN5A | c.2130G>C (p.Val710=) c.2001G>C (p.Val667=) | |
| 3 | g.38597861C>T | CA72932572 | SCN5A | c.2130G>A (p.Val710=) c.2001G>A (p.Val667=) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38597862A>C | CA352144708 | SCN5A | c.2129T>G (p.Val710Gly) c.2000T>G (p.Val667Gly) | gnomAD v4 |
| 3 | g.38597862A>G | CA352144707 | SCN5A | c.2129T>C (p.Val710Ala) c.2000T>C (p.Val667Ala) | ClinVar |
| 3 | g.38597862A>T | CA352144709 | SCN5A | c.2129T>A (p.Val710Glu) c.2000T>A (p.Val667Glu) | |
| 3 | g.38597863C>A | CA352144710 | SCN5A | c.2128G>T (p.Val710Leu) c.1999G>T (p.Val667Leu) | |
| 3 | g.38597863C>G | CA352144711 | SCN5A | c.2128G>C (p.Val710Leu) c.1999G>C (p.Val667Leu) | |
| 3 | g.38597863C>T | CA352144712 | SCN5A | c.2128G>A (p.Val710Met) c.1999G>A (p.Val667Met) | gnomAD v4 |
| 3 | g.38597864T>A | CA433333110 | SCN5A | c.2127A>T (p.Gly709=) c.1998A>T (p.Gly666=) | |
| 3 | g.38597864T>C | CA433333108 | SCN5A | c.2127A>G (p.Gly709=) c.1998A>G (p.Gly666=) | gnomAD v4 |
| 3 | g.38597864T>G | CA433333109 | SCN5A | c.2127A>C (p.Gly709=) c.1998A>C (p.Gly666=) | |
| 3 | g.38597865C>A | CA015873 | SCN5A | c.2126G>T (p.Gly709Val) c.1997G>T (p.Gly666Val) | ClinVar dbSNP |
| 3 | g.38597865C= | CA1358584132 | SCN5A | c.2126G= (p.Gly709=) c.1997G= (p.Gly666=) | |
| 3 | g.38597865C>G | CA352144713 | SCN5A | c.2126G>C (p.Gly709Ala) c.1997G>C (p.Gly666Ala) | |
| 3 | g.38597865C>T | CA352144714 | SCN5A | c.2126G>A (p.Gly709Glu) c.1997G>A (p.Gly666Glu) | gnomAD v4 |
| 3 | g.38597866C>A | CA352144715 | SCN5A | c.2125G>T (p.Gly709Ter) c.1996G>T (p.Gly666Ter) | dbSNP |
| 3 | g.38597866C= | CA1358584135 | SCN5A | c.2125G= (p.Gly709=) c.1996G= (p.Gly666=) | |
| 3 | g.38597866C>G | CA352144716 | SCN5A | c.2125G>C (p.Gly709Arg) c.1996G>C (p.Gly666Arg) | |
| 3 | g.38597866C>T | CA352144717 | SCN5A | c.2125G>A (p.Gly709Arg) c.1996G>A (p.Gly666Arg) | |
| 3 | g.38597867C>A | CA352144718 | SCN5A | c.2124G>T (p.Gln708His) c.1995G>T (p.Gln665His) | |
| 3 | g.38597867C>G | CA352144719 | SCN5A | c.2124G>C (p.Gln708His) c.1995G>C (p.Gln665His) | |
| 3 | g.38597867C>T | CA433333116 | SCN5A | c.2124G>A (p.Gln708=) c.1995G>A (p.Gln665=) | |
| 3 | g.38597868T>A | CA352144722 | SCN5A | c.2123A>T (p.Gln708Leu) c.1994A>T (p.Gln665Leu) | |
| 3 | g.38597868T>C | CA352144720 | SCN5A | c.2123A>G (p.Gln708Arg) c.1994A>G (p.Gln665Arg) | |
| 3 | g.38597868T>G | CA352144721 | SCN5A | c.2123A>C (p.Gln708Pro) c.1994A>C (p.Gln665Pro) | |
| 3 | g.38597869G>A | CA352144723 | SCN5A | c.2122C>T (p.Gln708Ter) c.1993C>T (p.Gln665Ter) | gnomAD v4 |
| 3 | g.38597869G>C | CA352144724 | SCN5A | c.2122C>G (p.Gln708Glu) c.1993C>G (p.Gln665Glu) | |
| 3 | g.38597869G>T | CA352144725 | SCN5A | c.2122C>A (p.Gln708Lys) c.1993C>A (p.Gln665Lys) | |
| 3 | g.38597870C>A | CA352144726 | SCN5A | c.2121G>T (p.Lys707Asn) c.1992G>T (p.Lys664Asn) | |
| 3 | g.38597870C>G | CA352144727 | SCN5A | c.2121G>C (p.Lys707Asn) c.1992G>C (p.Lys664Asn) | |
| 3 | g.38597870C>T | CA433333124 | SCN5A | c.2121G>A (p.Lys707=) c.1992G>A (p.Lys664=) | |
| 3 | g.38597871T>A | CA352144728 | SCN5A | c.2120A>T (p.Lys707Met) c.1991A>T (p.Lys664Met) | |
| 3 | g.38597871T>C | CA352144729 | SCN5A | c.2120A>G (p.Lys707Arg) c.1991A>G (p.Lys664Arg) | |
| 3 | g.38597871T>G | CA352144730 | SCN5A | c.2120A>C (p.Lys707Thr) c.1991A>C (p.Lys664Thr) | |
| 3 | g.38597872T>A | CA352144731 | SCN5A | c.2119A>T (p.Lys707Ter) c.1990A>T (p.Lys664Ter) | dbSNP |
| 3 | g.38597872T>C | CA352144732 | SCN5A | c.2119A>G (p.Lys707Glu) c.1990A>G (p.Lys664Glu) | |
| 3 | g.38597872T>G | CA352144733 | SCN5A | c.2119A>C (p.Lys707Gln) c.1990A>C (p.Lys664Gln) | |
| 3 | g.38597872T= | CA1358584137 | SCN5A | c.2119A= (p.Lys707=) c.1990A= (p.Lys664=) |