| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55039974G>A | CA22792102 | PCSK9 | c.137G>A (p.Arg46His) c.494G>A (p.Arg165His) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.55039974G>C | CA340482847 | PCSK9 | c.137G>C (p.Arg46Pro) c.494G>C (p.Arg165Pro) | |
| 1 | g.55039974G= | CA1140280946 | PCSK9 | c.137G= (p.Arg46=) c.494G= (p.Arg165=) | |
| 1 | g.55039974G>T | CA023110 | PCSK9 | c.137G>T (p.Arg46Leu) c.494G>T (p.Arg165Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039975T>A | CA417957392 | PCSK9 | c.138T>A (p.Arg46=) c.495T>A (p.Arg165=) | |
| 1 | g.55039975T>C | CA417957395 | PCSK9 | c.138T>C (p.Arg46=) c.495T>C (p.Arg165=) | gnomAD v4 |
| 1 | g.55039975T>G | CA417957393 | PCSK9 | c.138T>G (p.Arg46=) c.495T>G (p.Arg165=) | ClinVar |
| 1 | g.55039976T>A | CA340482848 | PCSK9 | c.139T>A (p.Ser47Thr) c.496T>A (p.Ser166Thr) | |
| 1 | g.55039976T>C | CA340482850 | PCSK9 | c.139T>C (p.Ser47Pro) c.496T>C (p.Ser166Pro) | |
| 1 | g.55039976T>G | CA340482849 | PCSK9 | c.139T>G (p.Ser47Ala) c.496T>G (p.Ser166Ala) | |
| 1 | g.55039977C>A | CA340482851 | PCSK9 | c.140C>A (p.Ser47Tyr) c.497C>A (p.Ser166Tyr) | gnomAD v4 |
| 1 | g.55039977C= | CA1167976456 | PCSK9 | c.140C= (p.Ser47=) c.497C= (p.Ser166=) | |
| 1 | g.55039977C>G | CA340482852 | PCSK9 | c.140C>G (p.Ser47Cys) c.497C>G (p.Ser166Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039977C>T | CA340482853 | PCSK9 | c.140C>T (p.Ser47Phe) c.497C>T (p.Ser166Phe) | gnomAD v4 |
| 1 | g.55039978C>A | CA417957397 | PCSK9 | c.141C>A (p.Ser47=) c.498C>A (p.Ser166=) | gnomAD v4 |
| 1 | g.55039978C= | CA1140477687 | PCSK9 | c.141C= (p.Ser47=) c.498C= (p.Ser166=) | |
| 1 | g.55039978C>G | CA417957398 | PCSK9 | c.141C>G (p.Ser47=) c.498C>G (p.Ser166=) | gnomAD v4 |
| 1 | g.55039978C>T | CA036874 | PCSK9 | c.141C>T (p.Ser47=) c.498C>T (p.Ser166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039979G>A | CA340482854 | PCSK9 | c.142G>A (p.Glu48Lys) c.499G>A (p.Glu167Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039979G>C | CA340482855 | PCSK9 | c.142G>C (p.Glu48Gln) c.499G>C (p.Glu167Gln) | |
| 1 | g.55039979G= | CA1167976457 | PCSK9 | c.142G= (p.Glu48=) c.499G= (p.Glu167=) | |
| 1 | g.55039979G>T | CA340482856 | PCSK9 | c.142G>T (p.Glu48Ter) c.499G>T (p.Glu167Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039984_55039986del | CA2574381080 | PCSK9 | c.147_149del (p.Glu49del) c.504_506del (p.Glu168del) | ClinVar |
| 1 | g.55039980A= | CA1167976458 | PCSK9 | c.143A= (p.Glu48=) c.500A= (p.Glu167=) | |
| 1 | g.55039980A>C | CA340482857 | PCSK9 | c.143A>C (p.Glu48Ala) c.500A>C (p.Glu167Ala) | |
| 1 | g.55039980A>G | CA340482858 | PCSK9 | c.143A>G (p.Glu48Gly) c.500A>G (p.Glu167Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039980A>T | CA340482859 | PCSK9 | c.143A>T (p.Glu48Val) c.500A>T (p.Glu167Val) | |
| 1 | g.55039981G>A | CA417957402 | PCSK9 | c.144G>A (p.Glu48=) c.501G>A (p.Glu167=) | gnomAD v4 |
| 1 | g.55039981G>C | CA340482860 | PCSK9 | c.144G>C (p.Glu48Asp) c.501G>C (p.Glu167Asp) | |
| 1 | g.55039981G>T | CA340482861 | PCSK9 | c.144G>T (p.Glu48Asp) c.501G>T (p.Glu167Asp) | |
| 1 | g.55039982G>A | CA340482864 | PCSK9 | c.145G>A (p.Glu49Lys) c.502G>A (p.Glu168Lys) | |
| 1 | g.55039982G>C | CA340482863 | PCSK9 | c.145G>C (p.Glu49Gln) c.502G>C (p.Glu168Gln) | |
| 1 | g.55039982G>T | CA340482862 | PCSK9 | c.145G>T (p.Glu49Ter) c.502G>T (p.Glu168Ter) | gnomAD v4 |
| 1 | g.55039983A>C | CA340482865 | PCSK9 | c.146A>C (p.Glu49Ala) c.503A>C (p.Glu168Ala) | |
| 1 | g.55039983A>G | CA340482866 | PCSK9 | c.146A>G (p.Glu49Gly) c.503A>G (p.Glu168Gly) | gnomAD v4 |
| 1 | g.55039983A>T | CA340482867 | PCSK9 | c.146A>T (p.Glu49Val) c.503A>T (p.Glu168Val) | |
| 1 | g.55039984G>A | CA417957404 | PCSK9 | c.147G>A (p.Glu49=) c.504G>A (p.Glu168=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039984G>C | CA037132 | PCSK9 | c.147G>C (p.Glu49Asp) c.504G>C (p.Glu168Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.55039984G= | CA1148428988 | PCSK9 | c.147G= (p.Glu49=) c.504G= (p.Glu168=) | |
| 1 | g.55039984G>T | CA340482868 | PCSK9 | c.147G>T (p.Glu49Asp) c.504G>T (p.Glu168Asp) | gnomAD v4 |
| 1 | g.55039985G>A | CA340482869 | PCSK9 | c.148G>A (p.Asp50Asn) c.505G>A (p.Asp169Asn) | gnomAD v4 |
| 1 | g.55039985G>C | CA340482870 | PCSK9 | c.148G>C (p.Asp50His) c.505G>C (p.Asp169His) | |
| 1 | g.55039985G>T | CA340482871 | PCSK9 | c.148G>T (p.Asp50Tyr) c.505G>T (p.Asp169Tyr) | COSMIC COSMIC |
| 1 | g.55039986A>C | CA340482872 | PCSK9 | c.149A>C (p.Asp50Ala) c.506A>C (p.Asp169Ala) | |
| 1 | g.55039986A>G | CA340482873 | PCSK9 | c.149A>G (p.Asp50Gly) c.506A>G (p.Asp169Gly) | gnomAD v4 |
| 1 | g.55039986A>T | CA340482874 | PCSK9 | c.149A>T (p.Asp50Val) c.506A>T (p.Asp169Val) | |
| 1 | g.55039987C>A | CA340482875 | PCSK9 | c.150C>A (p.Asp50Glu) c.507C>A (p.Asp169Glu) | gnomAD v4 |
| 1 | g.55039987C= | CA1167976459 | PCSK9 | c.150C= (p.Asp50=) c.507C= (p.Asp169=) | |
| 1 | g.55039987C>G | CA340482876 | PCSK9 | c.150C>G (p.Asp50Glu) c.507C>G (p.Asp169Glu) | |
| 1 | g.55039987C>T | CA22792147 | PCSK9 | c.150C>T (p.Asp50=) c.507C>T (p.Asp169=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |