Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603855G>A | CA352146370 | SCN5A | c.1747C>T (p.Pro583Ser) c.1618C>T (p.Pro540Ser) | COSMIC COSMIC COSMIC |
3 | g.38603855G>C | CA352146369 | SCN5A | c.1747C>G (p.Pro583Ala) c.1618C>G (p.Pro540Ala) | |
3 | g.38603855G>T | CA352146368 | SCN5A | c.1747C>A (p.Pro583Thr) c.1618C>A (p.Pro540Thr) | |
3 | g.38603856A>C | CA433333009 | SCN5A | c.1746T>G (p.Ala582=) c.1617T>G (p.Ala539=) | |
3 | g.38603856A>G | CA433333008 | SCN5A | c.1746T>C (p.Ala582=) c.1617T>C (p.Ala539=) | |
3 | g.38603856A>T | CA433333014 | SCN5A | c.1746T>A (p.Ala582=) c.1617T>A (p.Ala539=) | |
3 | g.38603857G>A | CA352146371 | SCN5A | c.1745C>T (p.Ala582Val) c.1616C>T (p.Ala539Val) | |
3 | g.38603857G>C | CA352146372 | SCN5A | c.1745C>G (p.Ala582Gly) c.1616C>G (p.Ala539Gly) | dbSNP |
3 | g.38603857G= | CA1358584927 | SCN5A | c.1745C= (p.Ala582=) c.1616C= (p.Ala539=) | |
3 | g.38603857G>T | CA352146375 | SCN5A | c.1745C>A (p.Ala582Asp) c.1616C>A (p.Ala539Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603858C>A | CA352146376 | SCN5A | c.1744G>T (p.Ala582Ser) c.1615G>T (p.Ala539Ser) | |
3 | g.38603858C>G | CA352146377 | SCN5A | c.1744G>C (p.Ala582Pro) c.1615G>C (p.Ala539Pro) | |
3 | g.38603858C>T | CA352146378 | SCN5A | c.1744G>A (p.Ala582Thr) c.1615G>A (p.Ala539Thr) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603859C>A | CA058709 | SCN5A | c.1743G>T (p.Ser581=) c.1614G>T (p.Ser538=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603859C= | CA1358584928 | SCN5A | c.1743G= (p.Ser581=) c.1614G= (p.Ser538=) | |
3 | g.38603859C>G | CA433333022 | SCN5A | c.1743G>C (p.Ser581=) c.1614G>C (p.Ser538=) | dbSNP |
3 | g.38603859C>T | CA015302 | SCN5A | c.1743G>A (p.Ser581=) c.1614G>A (p.Ser538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603860G>A | CA058688 | SCN5A | c.1742C>T (p.Ser581Leu) c.1613C>T (p.Ser538Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603860G>C | CA352146383 | SCN5A | c.1742C>G (p.Ser581Trp) c.1613C>G (p.Ser538Trp) | |
3 | g.38603860G= | CA1358584929 | SCN5A | c.1742C= (p.Ser581=) c.1613C= (p.Ser538=) | |
3 | g.38603860G>T | CA352146385 | SCN5A | c.1742C>A (p.Ser581Ter) c.1613C>A (p.Ser538Ter) | dbSNP |
3 | g.38603861A>C | CA352146390 | SCN5A | c.1741T>G (p.Ser581Ala) c.1612T>G (p.Ser538Ala) | |
3 | g.38603861A>G | CA352146391 | SCN5A | c.1741T>C (p.Ser581Pro) c.1612T>C (p.Ser538Pro) | |
3 | g.38603861A>T | CA352146389 | SCN5A | c.1741T>A (p.Ser581Thr) c.1612T>A (p.Ser538Thr) | |
3 | g.38603862G>A | CA433333030 | SCN5A | c.1740C>T (p.Thr580=) c.1611C>T (p.Thr537=) | gnomAD v4 |
3 | g.38603862G>C | CA433333031 | SCN5A | c.1740C>G (p.Thr580=) c.1611C>G (p.Thr537=) | |
3 | g.38603862G>T | CA433333032 | SCN5A | c.1740C>A (p.Thr580=) c.1611C>A (p.Thr537=) | |
3 | g.38603863G>A | CA352146397 | SCN5A | c.1739C>T (p.Thr580Ile) c.1610C>T (p.Thr537Ile) | |
3 | g.38603863G>C | CA352146400 | SCN5A | c.1739C>G (p.Thr580Ser) c.1610C>G (p.Thr537Ser) | |
3 | g.38603863G>T | CA352146401 | SCN5A | c.1739C>A (p.Thr580Asn) c.1610C>A (p.Thr537Asn) | gnomAD v4 |
3 | g.38603864T>A | CA352146404 | SCN5A | c.1738A>T (p.Thr580Ser) c.1609A>T (p.Thr537Ser) | |
3 | g.38603864T>C | CA352146407 | SCN5A | c.1738A>G (p.Thr580Ala) c.1609A>G (p.Thr537Ala) | |
3 | g.38603864T>G | CA352146409 | SCN5A | c.1738A>C (p.Thr580Pro) c.1609A>C (p.Thr537Pro) | |
3 | g.38603865T>A | CA433333042 | SCN5A | c.1737A>T (p.Gly579=) c.1608A>T (p.Gly536=) | |
3 | g.38603865T>C | CA433333043 | SCN5A | c.1737A>G (p.Gly579=) c.1608A>G (p.Gly536=) | ClinVar |
3 | g.38603865T>G | CA433333044 | SCN5A | c.1737A>C (p.Gly579=) c.1608A>C (p.Gly536=) | |
3 | g.38603866C>A | CA352146412 | SCN5A | c.1736G>T (p.Gly579Val) c.1607G>T (p.Gly536Val) | |
3 | g.38603866C= | CA1358584930 | SCN5A | c.1736G= (p.Gly579=) c.1607G= (p.Gly536=) | |
3 | g.38603866C>G | CA352146411 | SCN5A | c.1736G>C (p.Gly579Ala) c.1607G>C (p.Gly536Ala) | |
3 | g.38603866C>T | CA72939151 | SCN5A | c.1736G>A (p.Gly579Glu) c.1607G>A (p.Gly536Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603867C>A | CA352146413 | SCN5A | c.1735G>T (p.Gly579Ter) c.1606G>T (p.Gly536Ter) | dbSNP |
3 | g.38603867C= | CA1358584931 | SCN5A | c.1735G= (p.Gly579=) c.1606G= (p.Gly536=) | |
3 | g.38603867C>G | CA352146415 | SCN5A | c.1735G>C (p.Gly579Arg) c.1606G>C (p.Gly536Arg) | |
3 | g.38603867C>T | CA015293 | SCN5A | c.1735G>A (p.Gly579Arg) c.1606G>A (p.Gly536Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603868G>A | CA058673 | SCN5A | c.1734C>T (p.Pro578=) c.1605C>T (p.Pro535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603868G>C | CA433333051 | SCN5A | c.1734C>G (p.Pro578=) c.1605C>G (p.Pro535=) | |
3 | g.38603868G= | CA1358584932 | SCN5A | c.1734C= (p.Pro578=) c.1605C= (p.Pro535=) | |
3 | g.38603868G>T | CA058665 | SCN5A | c.1734C>A (p.Pro578=) c.1605C>A (p.Pro535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603869G>A | CA352146421 | SCN5A | c.1733C>T (p.Pro578Leu) c.1604C>T (p.Pro535Leu) | COSMIC COSMIC COSMIC |
3 | g.38603869G>C | CA352146423 | SCN5A | c.1733C>G (p.Pro578Arg) c.1604C>G (p.Pro535Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |