Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.55039949del | CA2743685338 | PCSK9 | c.112del (p.Tyr38ThrfsTer6) c.469del (p.Tyr157ThrfsTer6) | |
1 | g.55039949T>A | CA340482798 | PCSK9 | c.112T>A (p.Tyr38Asn) c.469T>A (p.Tyr157Asn) | |
1 | g.55039949T>C | CA22792057 | PCSK9 | c.112T>C (p.Tyr38His) c.469T>C (p.Tyr157His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039949T>G | CA340482799 | PCSK9 | c.112T>G (p.Tyr38Asp) c.469T>G (p.Tyr157Asp) | |
1 | g.55039949T= | CA1167976445 | PCSK9 | c.112T= (p.Tyr38=) c.469T= (p.Tyr157=) | |
1 | g.55039950A>C | CA340482800 | PCSK9 | c.113A>C (p.Tyr38Ser) c.470A>C (p.Tyr157Ser) | |
1 | g.55039950A>G | CA340482801 | PCSK9 | c.113A>G (p.Tyr38Cys) c.470A>G (p.Tyr157Cys) | ClinVar gnomAD v4 |
1 | g.55039950A>T | CA340482802 | PCSK9 | c.113A>T (p.Tyr38Phe) c.470A>T (p.Tyr157Phe) | gnomAD v4 |
1 | g.55039951C>A | CA340482803 | PCSK9 | c.114C>A (p.Tyr38Ter) c.471C>A (p.Tyr157Ter) | gnomAD v4 |
1 | g.55039951C>G | CA340482804 | PCSK9 | c.114C>G (p.Tyr38Ter) c.471C>G (p.Tyr157Ter) | gnomAD v4 |
1 | g.55039951C>T | CA417957364 | PCSK9 | c.114C>T (p.Tyr38=) c.471C>T (p.Tyr157=) | ClinVar gnomAD v4 |
1 | g.55039952G>A | CA035375 | PCSK9 | c.115G>A (p.Glu39Lys) c.472G>A (p.Glu158Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55039952G>C | CA340482805 | PCSK9 | c.115G>C (p.Glu39Gln) c.472G>C (p.Glu158Gln) | gnomAD v4 |
1 | g.55039952G= | CA1167976446 | PCSK9 | c.115G= (p.Glu39=) c.472G= (p.Glu158=) | |
1 | g.55039952G>T | CA340482806 | PCSK9 | c.115G>T (p.Glu39Ter) c.472G>T (p.Glu158Ter) | gnomAD v4 |
1 | g.55039953A= | CA1167976447 | PCSK9 | c.116A= (p.Glu39=) c.473A= (p.Glu158=) | |
1 | g.55039953A>C | CA340482809 | PCSK9 | c.116A>C (p.Glu39Ala) c.473A>C (p.Glu158Ala) | |
1 | g.55039953A>G | CA340482808 | PCSK9 | c.116A>G (p.Glu39Gly) c.473A>G (p.Glu158Gly) | |
1 | g.55039953A>T | CA340482807 | PCSK9 | c.116A>T (p.Glu39Val) c.473A>T (p.Glu158Val) | dbSNP gnomAD v4 |
1 | g.55039954G>A | CA417957366 | PCSK9 | c.117G>A (p.Glu39=) c.474G>A (p.Glu158=) | gnomAD v4 |
1 | g.55039954G>C | CA340482810 | PCSK9 | c.117G>C (p.Glu39Asp) c.474G>C (p.Glu158Asp) | |
1 | g.55039954G>T | CA340482811 | PCSK9 | c.117G>T (p.Glu39Asp) c.474G>T (p.Glu158Asp) | gnomAD v4 |
1 | g.55039955G>A | CA340482812 | PCSK9 | c.118G>A (p.Glu40Lys) c.475G>A (p.Glu159Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039955G>C | CA340482813 | PCSK9 | c.118G>C (p.Glu40Gln) c.475G>C (p.Glu159Gln) | |
1 | g.55039955G= | CA1167976448 | PCSK9 | c.118G= (p.Glu40=) c.475G= (p.Glu159=) | |
1 | g.55039955G>T | CA340482814 | PCSK9 | c.118G>T (p.Glu40Ter) c.475G>T (p.Glu159Ter) | gnomAD v4 |
1 | g.55039956A>C | CA340482815 | PCSK9 | c.119A>C (p.Glu40Ala) c.476A>C (p.Glu159Ala) | |
1 | g.55039956A>G | CA340482816 | PCSK9 | c.119A>G (p.Glu40Gly) c.476A>G (p.Glu159Gly) | gnomAD v4 COSMIC COSMIC |
1 | g.55039956A>T | CA340482817 | PCSK9 | c.119A>T (p.Glu40Val) c.476A>T (p.Glu159Val) | |
1 | g.55039957G>A | CA417957371 | PCSK9 | c.120G>A (p.Glu40=) c.477G>A (p.Glu159=) | ClinVar gnomAD v4 |
1 | g.55039957G>C | CA340482818 | PCSK9 | c.120G>C (p.Glu40Asp) c.477G>C (p.Glu159Asp) | |
1 | g.55039957G>T | CA340482819 | PCSK9 | c.120G>T (p.Glu40Asp) c.477G>T (p.Glu159Asp) | gnomAD v4 |
1 | g.55039958C>A | CA340482820 | PCSK9 | c.121C>A (p.Leu41Met) c.478C>A (p.Leu160Met) | gnomAD v4 |
1 | g.55039958C= | CA1167976449 | PCSK9 | c.121C= (p.Leu41=) c.478C= (p.Leu160=) | |
1 | g.55039958C>G | CA035959 | PCSK9 | c.121C>G (p.Leu41Val) c.478C>G (p.Leu160Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55039958C>T | CA417957372 | PCSK9 | c.121C>T (p.Leu41=) c.478C>T (p.Leu160=) | gnomAD v4 |
1 | g.55039959T>A | CA036030 | PCSK9 | c.122T>A (p.Leu41Gln) c.479T>A (p.Leu160Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039959T>C | CA340482822 | PCSK9 | c.122T>C (p.Leu41Pro) c.479T>C (p.Leu160Pro) | gnomAD v4 |
1 | g.55039959T>G | CA340482821 | PCSK9 | c.122T>G (p.Leu41Arg) c.479T>G (p.Leu160Arg) | |
1 | g.55039959T= | CA1145989361 | PCSK9 | c.122T= (p.Leu41=) c.479T= (p.Leu160=) | |
1 | g.55039960G>A | CA417957373 | PCSK9 | c.123G>A (p.Leu41=) c.480G>A (p.Leu160=) | gnomAD v4 |
1 | g.55039960G>C | CA417957375 | PCSK9 | c.123G>C (p.Leu41=) c.480G>C (p.Leu160=) | ClinVar dbSNP |
1 | g.55039960G= | CA1167976450 | PCSK9 | c.123G= (p.Leu41=) c.480G= (p.Leu160=) | |
1 | g.55039960G>T | CA417957376 | PCSK9 | c.123G>T (p.Leu41=) c.480G>T (p.Leu160=) | gnomAD v4 |
1 | g.55039961G>A | CA340482823 | PCSK9 | c.124G>A (p.Val42Met) c.481G>A (p.Val161Met) | gnomAD v4 |
1 | g.55039961G>C | CA340482824 | PCSK9 | c.124G>C (p.Val42Leu) c.481G>C (p.Val161Leu) | |
1 | g.55039961G>T | CA340482825 | PCSK9 | c.124G>T (p.Val42Leu) c.481G>T (p.Val161Leu) | |
1 | g.55039962T>A | CA340482826 | PCSK9 | c.125T>A (p.Val42Glu) c.482T>A (p.Val161Glu) | |
1 | g.55039962T>C | CA340482827 | PCSK9 | c.125T>C (p.Val42Ala) c.482T>C (p.Val161Ala) | |
1 | g.55039962T>G | CA340482828 | PCSK9 | c.125T>G (p.Val42Gly) c.482T>G (p.Val161Gly) |