Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.55039931_55039943delinsGAGGACGAGGACG | CA1148406183 | PCSK9 | c.94_106delinsGAGGACGAGGACG (p.Glu32=) c.451_463delinsGAGGACGAGGACG (p.Glu151=) | |
1 | g.55039938_55039943dup | CA045097 | PCSK9 | c.101_106dup (p.Asp35_Gly36insGluAsp) c.458_463dup (p.Asp154_Gly155insGluAsp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039940_55039944del | CA2645837444 | PCSK9 | c.103_107del (p.Asp35ArgfsTer?) c.460_464del (p.Asp154ArgfsTer?) | gnomAD v4 |
1 | g.55039940G>A | CA340482778 | PCSK9 | c.103G>A (p.Asp35Asn) c.460G>A (p.Asp154Asn) | |
1 | g.55039940G>C | CA340482779 | PCSK9 | c.103G>C (p.Asp35His) c.460G>C (p.Asp154His) | gnomAD v4 |
1 | g.55039940G= | CA1167976439 | PCSK9 | c.103G= (p.Asp35=) c.460G= (p.Asp154=) | |
1 | g.55039940G>T | CA034785 | PCSK9 | c.103G>T (p.Asp35Tyr) c.460G>T (p.Asp154Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039943_55039948dup | CA2697552435 | PCSK9 | c.106_111dup (p.Asp37_Tyr38insGlyAsp) c.463_468dup (p.Asp156_Tyr157insGlyAsp) | ClinVar |
1 | g.55039941A>C | CA340482782 | PCSK9 | c.104A>C (p.Asp35Ala) c.461A>C (p.Asp154Ala) | |
1 | g.55039941A>G | CA340482781 | PCSK9 | c.104A>G (p.Asp35Gly) c.461A>G (p.Asp154Gly) | |
1 | g.55039941A>T | CA340482780 | PCSK9 | c.104A>T (p.Asp35Val) c.461A>T (p.Asp154Val) | |
1 | g.55039942C>A | CA340482783 | PCSK9 | c.105C>A (p.Asp35Glu) c.462C>A (p.Asp154Glu) | |
1 | g.55039942C= | CA1144707896 | PCSK9 | c.105C= (p.Asp35=) c.462C= (p.Asp154=) | |
1 | g.55039942C>G | CA340482784 | PCSK9 | c.105C>G (p.Asp35Glu) c.462C>G (p.Asp154Glu) | |
1 | g.55039942C>T | CA034842 | PCSK9 | c.105C>T (p.Asp35=) c.462C>T (p.Asp154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039943G>A | CA034887 | PCSK9 | c.106G>A (p.Gly36Ser) c.463G>A (p.Gly155Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039943G>C | CA340482785 | PCSK9 | c.106G>C (p.Gly36Arg) c.463G>C (p.Gly155Arg) | gnomAD v4 |
1 | g.55039943G= | CA1167976440 | PCSK9 | c.106G= (p.Gly36=) c.463G= (p.Gly155=) | |
1 | g.55039943G>T | CA340482786 | PCSK9 | c.106G>T (p.Gly36Cys) c.463G>T (p.Gly155Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039944G>A | CA340482787 | PCSK9 | c.107G>A (p.Gly36Asp) c.464G>A (p.Gly155Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039944G>C | CA340482788 | PCSK9 | c.107G>C (p.Gly36Ala) c.464G>C (p.Gly155Ala) | |
1 | g.55039944G= | CA1167976441 | PCSK9 | c.107G= (p.Gly36=) c.464G= (p.Gly155=) | |
1 | g.55039944G>T | CA340482789 | PCSK9 | c.107G>T (p.Gly36Val) c.464G>T (p.Gly155Val) | |
1 | g.55039945C>A | CA417957357 | PCSK9 | c.108C>A (p.Gly36=) c.465C>A (p.Gly155=) | ClinVar gnomAD v4 |
1 | g.55039945C= | CA1167976442 | PCSK9 | c.108C= (p.Gly36=) c.465C= (p.Gly155=) | |
1 | g.55039945C>G | CA417957355 | PCSK9 | c.108C>G (p.Gly36=) c.465C>G (p.Gly155=) | ClinVar |
1 | g.55039945C>T | CA417957356 | PCSK9 | c.108C>T (p.Gly36=) c.465C>T (p.Gly155=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039946G>A | CA340482790 | PCSK9 | c.109G>A (p.Asp37Asn) c.466G>A (p.Asp156Asn) | gnomAD v4 |
1 | g.55039946G>C | CA340482791 | PCSK9 | c.109G>C (p.Asp37His) c.466G>C (p.Asp156His) | |
1 | g.55039946G= | CA1167976443 | PCSK9 | c.109G= (p.Asp37=) c.466G= (p.Asp156=) | |
1 | g.55039946G>T | CA340482792 | PCSK9 | c.109G>T (p.Asp37Tyr) c.466G>T (p.Asp156Tyr) | dbSNP gnomAD v4 |
1 | g.55039947A>C | CA340482795 | PCSK9 | c.110A>C (p.Asp37Ala) c.467A>C (p.Asp156Ala) | |
1 | g.55039947A>G | CA340482794 | PCSK9 | c.110A>G (p.Asp37Gly) c.467A>G (p.Asp156Gly) | gnomAD v4 |
1 | g.55039947A>T | CA340482793 | PCSK9 | c.110A>T (p.Asp37Val) c.467A>T (p.Asp156Val) | |
1 | g.55039948C>A | CA340482796 | PCSK9 | c.111C>A (p.Asp37Glu) c.468C>A (p.Asp156Glu) | ClinVar dbSNP gnomAD v4 |
1 | g.55039948C= | CA1167976444 | PCSK9 | c.111C= (p.Asp37=) c.468C= (p.Asp156=) | |
1 | g.55039948C>G | CA340482797 | PCSK9 | c.111C>G (p.Asp37Glu) c.468C>G (p.Asp156Glu) | |
1 | g.55039948C>T | CA417957361 | PCSK9 | c.111C>T (p.Asp37=) c.468C>T (p.Asp156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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) | |
1 | g.55039963G>A | CA417957379 | PCSK9 | c.126G>A (p.Val42=) c.483G>A (p.Val161=) | gnomAD v4 |
1 | g.55039963G>C | CA417957380 | PCSK9 | c.126G>C (p.Val42=) c.483G>C (p.Val161=) | |
1 | g.55039963G= | CA1143974653 | PCSK9 | c.126G= (p.Val42=) c.483G= (p.Val161=) | |
1 | g.55039963G>T | CA036173 | PCSK9 | c.126G>T (p.Val42=) c.483G>T (p.Val161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039964C>A | CA340482829 | PCSK9 | c.127C>A (p.Leu43Ile) c.484C>A (p.Leu162Ile) | gnomAD v4 |
1 | g.55039964C>G | CA340482830 | PCSK9 | c.127C>G (p.Leu43Val) c.484C>G (p.Leu162Val) | |
1 | g.55039964C>T | CA417957381 | PCSK9 | c.127C>T (p.Leu43=) c.484C>T (p.Leu162=) | gnomAD v4 |
1 | g.55039965T>A | CA340482831 | PCSK9 | c.128T>A (p.Leu43Gln) c.485T>A (p.Leu162Gln) | |
1 | g.55039965T>C | CA340482832 | PCSK9 | c.128T>C (p.Leu43Pro) c.485T>C (p.Leu162Pro) | gnomAD v4 |
1 | g.55039965T>G | CA340482833 | PCSK9 | c.128T>G (p.Leu43Arg) c.485T>G (p.Leu162Arg) | |
1 | g.55039966A>C | CA417957382 | PCSK9 | c.129A>C (p.Leu43=) c.486A>C (p.Leu162=) | |
1 | g.55039966A>G | CA417957384 | PCSK9 | c.129A>G (p.Leu43=) c.486A>G (p.Leu162=) | |
1 | g.55039966A>T | CA417957385 | PCSK9 | c.129A>T (p.Leu43=) c.486A>T (p.Leu162=) | |
1 | g.55039967G>A | CA22792080 | PCSK9 | c.130G>A (p.Ala44Thr) c.487G>A (p.Ala163Thr) | dbSNP gnomAD v4 |
1 | g.55039967G>C | CA340482834 | PCSK9 | c.130G>C (p.Ala44Pro) c.487G>C (p.Ala163Pro) | |
1 | g.55039967G= | CA1167976451 | PCSK9 | c.130G= (p.Ala44=) c.487G= (p.Ala163=) | |
1 | g.55039967G>T | CA22792082 | PCSK9 | c.130G>T (p.Ala44Ser) c.487G>T (p.Ala163Ser) | dbSNP gnomAD v4 |
1 | g.55039968C>A | CA340482835 | PCSK9 | c.131C>A (p.Ala44Asp) c.488C>A (p.Ala163Asp) | gnomAD v4 |
1 | g.55039968C= | CA1167976452 | PCSK9 | c.131C= (p.Ala44=) c.488C= (p.Ala163=) | |
1 | g.55039968C>G | CA340482836 | PCSK9 | c.131C>G (p.Ala44Gly) c.488C>G (p.Ala163Gly) | dbSNP gnomAD v4 |
1 | g.55039968C>T | CA340482837 | PCSK9 | c.131C>T (p.Ala44Val) c.488C>T (p.Ala163Val) | gnomAD v4 |
1 | g.55039969C>A | CA417957386 | PCSK9 | c.132C>A (p.Ala44=) c.489C>A (p.Ala163=) | gnomAD v4 |
1 | g.55039969C= | CA1167976453 | PCSK9 | c.132C= (p.Ala44=) c.489C= (p.Ala163=) | |
1 | g.55039969C>G | CA417957387 | PCSK9 | c.132C>G (p.Ala44=) c.489C>G (p.Ala163=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039969C>T | CA417957388 | PCSK9 | c.132C>T (p.Ala44=) c.489C>T (p.Ala163=) | ClinVar dbSNP |
1 | g.55039970T>A | CA340482838 | PCSK9 | c.133T>A (p.Leu45Met) c.490T>A (p.Leu164Met) | gnomAD v4 |
1 | g.55039970T>C | CA417957389 | PCSK9 | c.133T>C (p.Leu45=) c.490T>C (p.Leu164=) | dbSNP gnomAD v4 |
1 | g.55039970T>G | CA340482839 | PCSK9 | c.133T>G (p.Leu45Val) c.490T>G (p.Leu164Val) | gnomAD v4 |
1 | g.55039971T>A | CA340482842 | PCSK9 | c.134T>A (p.Leu45Ter) c.491T>A (p.Leu164Ter) | gnomAD v4 |
1 | g.55039971T>C | CA340482840 | PCSK9 | c.134T>C (p.Leu45Ser) c.491T>C (p.Leu164Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039971T>G | CA340482841 | PCSK9 | c.134T>G (p.Leu45Trp) c.491T>G (p.Leu164Trp) | |
1 | g.55039971T= | CA1167976454 | PCSK9 | c.134T= (p.Leu45=) c.491T= (p.Leu164=) | |
1 | g.55039972G>A | CA417957390 | PCSK9 | c.135G>A (p.Leu45=) c.492G>A (p.Leu164=) | ClinVar dbSNP gnomAD v4 |
1 | g.55039972G>C | CA340482843 | PCSK9 | c.135G>C (p.Leu45Phe) c.492G>C (p.Leu164Phe) | |
1 | g.55039972G= | CA1167976455 | PCSK9 | c.135G= (p.Leu45=) c.492G= (p.Leu164=) | |
1 | g.55039972G>T | CA340482844 | PCSK9 | c.135G>T (p.Leu45Phe) c.492G>T (p.Leu164Phe) | gnomAD v4 |
1 | g.55039973C>A | CA340482845 | PCSK9 | c.136C>A (p.Arg46Ser) c.493C>A (p.Arg165Ser) | ClinVar gnomAD v4 |
1 | g.55039973C= | CA1148482572 | PCSK9 | c.136C= (p.Arg46=) c.493C= (p.Arg165=) | |
1 | g.55039973C>G | CA340482846 | PCSK9 | c.136C>G (p.Arg46Gly) c.493C>G (p.Arg165Gly) | |
1 | g.55039973C>T | CA036614 | PCSK9 | c.136C>T (p.Arg46Cys) c.493C>T (p.Arg165Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
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) | ClinVar 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) | ClinVar |
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 |
1 | g.55039988G>A | CA340482878 | PCSK9 | c.151G>A (p.Gly51Ser) c.508G>A (p.Gly170Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039988G>C | CA340482879 | PCSK9 | c.151G>C (p.Gly51Arg) c.508G>C (p.Gly170Arg) | gnomAD v4 |
1 | g.55039988G= | CA1167976460 | PCSK9 | c.151G= (p.Gly51=) c.508G= (p.Gly170=) | |
1 | g.55039988G>T | CA340482877 | PCSK9 | c.151G>T (p.Gly51Cys) c.508G>T (p.Gly170Cys) | ClinVar dbSNP gnomAD v4 |
1 | g.55039989G>A | CA340482880 | PCSK9 | c.152G>A (p.Gly51Asp) c.509G>A (p.Gly170Asp) | ClinVar gnomAD v4 |
1 | g.55039989G>C | CA340482881 | PCSK9 | c.152G>C (p.Gly51Ala) c.509G>C (p.Gly170Ala) | |
1 | g.55039989G= | CA1167976461 | PCSK9 | c.152G= (p.Gly51=) c.509G= (p.Gly170=) | |
1 | g.55039989G>T | CA22792149 | PCSK9 | c.152G>T (p.Gly51Val) c.509G>T (p.Gly170Val) | dbSNP gnomAD v4 |
1 | g.55039990C>A | CA417957407 | PCSK9 | c.153C>A (p.Gly51=) c.510C>A (p.Gly170=) | gnomAD v4 |
1 | g.55039990C>G | CA417957408 | PCSK9 | c.153C>G (p.Gly51=) c.510C>G (p.Gly170=) | |
1 | g.55039990C>T | CA417957409 | PCSK9 | c.153C>T (p.Gly51=) c.510C>T (p.Gly170=) | gnomAD v4 |
1 | g.55039991C>A | CA340482882 | PCSK9 | c.154C>A (p.Leu52Met) c.511C>A (p.Leu171Met) | gnomAD v4 |
1 | g.55039991C= | CA1167976462 | PCSK9 | c.154C= (p.Leu52=) c.511C= (p.Leu171=) | |
1 | g.55039991C>G | CA340482883 | PCSK9 | c.154C>G (p.Leu52Val) c.511C>G (p.Leu171Val) | |
1 | g.55039991C>T | CA22792150 | PCSK9 | c.154C>T (p.Leu52=) c.511C>T (p.Leu171=) | ClinVar dbSNP |
1 | g.55039992T>A | CA340482884 | PCSK9 | c.155T>A (p.Leu52Gln) c.512T>A (p.Leu171Gln) | |
1 | g.55039992T>C | CA340482885 | PCSK9 | c.155T>C (p.Leu52Pro) c.512T>C (p.Leu171Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039992T>G | CA340482886 | PCSK9 | c.155T>G (p.Leu52Arg) c.512T>G (p.Leu171Arg) | |
1 | g.55039992T= | CA1167976463 | PCSK9 | c.155T= (p.Leu52=) c.512T= (p.Leu171=) | |
1 | g.55039993G>A | CA417957410 | PCSK9 | c.156G>A (p.Leu52=) c.513G>A (p.Leu171=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039993G>C | CA417957411 | PCSK9 | c.156G>C (p.Leu52=) c.513G>C (p.Leu171=) | ClinVar dbSNP |
1 | g.55039993G= | CA1167976465 | PCSK9 | c.156G= (p.Leu52=) c.513G= (p.Leu171=) | |
1 | g.55039993G>T | CA417957412 | PCSK9 | c.156G>T (p.Leu52=) c.513G>T (p.Leu171=) | ClinVar dbSNP gnomAD v4 |
1 | g.55039994del | CA2645837699 | PCSK9 | c.157del (p.Ala53ProfsTer30) c.514del (p.Ala172ProfsTer30) | gnomAD v4 |
1 | g.55039993_55039995delinsAGT | CA1139655487 | PCSK9 | c.156_158delinsAGT (p.Ala53Val) c.513_515delinsAGT (p.Ala172Val) | ClinVar dbSNP |
1 | g.55039993_55039995delinsGGC | CA1167976464 | PCSK9 | c.156_158delinsGGC (p.Leu52=) c.513_515delinsGGC (p.Leu171=) | |
1 | g.55039994G>A | CA340482887 | PCSK9 | c.157G>A (p.Ala53Thr) c.514G>A (p.Ala172Thr) | dbSNP gnomAD v4 |
1 | g.55039994G>C | CA340482888 | PCSK9 | c.157G>C (p.Ala53Pro) c.514G>C (p.Ala172Pro) | gnomAD v3 gnomAD v4 |
1 | g.55039994G= | CA1167976466 | PCSK9 | c.157G= (p.Ala53=) c.514G= (p.Ala172=) | |
1 | g.55039994G>T | CA340482889 | PCSK9 | c.157G>T (p.Ala53Ser) c.514G>T (p.Ala172Ser) | |
1 | g.55039995C>A | CA340482890 | PCSK9 | c.158C>A (p.Ala53Asp) c.515C>A (p.Ala172Asp) | gnomAD v4 |
1 | g.55039995C= | CA1140274051 | PCSK9 | c.158C= (p.Ala53=) c.515C= (p.Ala172=) | |
1 | g.55039995C>G | CA038082 | PCSK9 | c.158C>G (p.Ala53Gly) c.515C>G (p.Ala172Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039995C>T | CA023136 | PCSK9 | c.158C>T (p.Ala53Val) c.515C>T (p.Ala172Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039996C>A | CA417957416 | PCSK9 | c.159C>A (p.Ala53=) c.516C>A (p.Ala172=) | gnomAD v4 |
1 | g.55039996C= | CA1167976467 | PCSK9 | c.159C= (p.Ala53=) c.516C= (p.Ala172=) | |
1 | g.55039996C>G | CA417957415 | PCSK9 | c.159C>G (p.Ala53=) c.516C>G (p.Ala172=) | |
1 | g.55039996C>T | CA038130 | PCSK9 | c.159C>T (p.Ala53=) c.516C>T (p.Ala172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55039997G>A | CA038158 | PCSK9 | c.160G>A (p.Glu54Lys) c.517G>A (p.Glu173Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55039997G>C | CA340482891 | PCSK9 | c.160G>C (p.Glu54Gln) c.517G>C (p.Glu173Gln) | gnomAD v4 |
1 | g.55039997G= | CA1167976468 | PCSK9 | c.160G= (p.Glu54=) c.517G= (p.Glu173=) | |
1 | g.55039997G>T | CA340482892 | PCSK9 | c.160G>T (p.Glu54Ter) c.517G>T (p.Glu173Ter) | gnomAD v4 |
1 | g.55039998A= | CA1167976470 | PCSK9 | c.161A= (p.Glu54=) c.518A= (p.Glu173=) | |
1 | g.55039998A>C | CA340482893 | PCSK9 | c.161A>C (p.Glu54Ala) c.518A>C (p.Glu173Ala) | dbSNP gnomAD v4 |
1 | g.55039998A>G | CA340482894 | PCSK9 | c.161A>G (p.Glu54Gly) c.518A>G (p.Glu173Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039998A>T | CA340482895 | PCSK9 | c.161A>T (p.Glu54Val) c.518A>T (p.Glu173Val) | gnomAD v4 |
1 | g.55039999_55040000insAAA | CA1167976469 | PCSK9 | c.162_163insAAA (p.Glu54_Ala55insLys) c.519_520insAAA (p.Glu173_Ala174insLys) | dbSNP |
1 | g.55039998_55040004delinsAAGCACC | CA1167976471 | PCSK9 | c.161_167delinsAAGCACC (p.Glu54=) c.518_524delinsAAGCACC (p.Glu173=) | |
1 | g.55039999A>C | CA340482896 | PCSK9 | c.162A>C (p.Glu54Asp) c.519A>C (p.Glu173Asp) | |
1 | g.55039999A>G | CA417957417 | PCSK9 | c.162A>G (p.Glu54=) c.519A>G (p.Glu173=) | gnomAD v4 |
1 | g.55039999A>T | CA340482897 | PCSK9 | c.162A>T (p.Glu54Asp) c.519A>T (p.Glu173Asp) | |
1 | g.55039999_55040004del | CA1167976472 | PCSK9 | c.162_167del (p.Glu54_Pro56delinsAsp) c.519_524del (p.Glu173_Pro175delinsAsp) | dbSNP |
1 | g.55040000G>A | CA340482898 | PCSK9 | c.163G>A (p.Ala55Thr) c.520G>A (p.Ala174Thr) | gnomAD v4 |
1 | g.55040000G>C | CA340482899 | PCSK9 | c.163G>C (p.Ala55Pro) c.520G>C (p.Ala174Pro) | |
1 | g.55040000G>T | CA340482900 | PCSK9 | c.163G>T (p.Ala55Ser) c.520G>T (p.Ala174Ser) | gnomAD v4 |
1 | g.55040001C>A | CA340483105 | PCSK9 | c.164C>A (p.Ala55Glu) c.521C>A (p.Ala174Glu) | ClinVar gnomAD v4 |
1 | g.55040001C= | CA1167976473 | PCSK9 | c.164C= (p.Ala55=) c.521C= (p.Ala174=) | |
1 | g.55040001C>G | CA340483107 | PCSK9 | c.164C>G (p.Ala55Gly) c.521C>G (p.Ala174Gly) | |
1 | g.55040001C>T | CA340483102 | PCSK9 | c.164C>T (p.Ala55Val) c.521C>T (p.Ala174Val) | ClinVar dbSNP gnomAD v4 |
1 | g.55040002A= | CA1167976474 | PCSK9 | c.165A= (p.Ala55=) c.522A= (p.Ala174=) | |
1 | g.55040002A>C | CA417957431 | PCSK9 | c.165A>C (p.Ala55=) c.522A>C (p.Ala174=) | |
1 | g.55040002A>G | CA417957433 | PCSK9 | c.165A>G (p.Ala55=) c.522A>G (p.Ala174=) | gnomAD v4 |
1 | g.55040002A>T | CA417957432 | PCSK9 | c.165A>T (p.Ala55=) c.522A>T (p.Ala174=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.55040003C>A | CA340483113 | PCSK9 | c.166C>A (p.Pro56Thr) c.523C>A (p.Pro175Thr) | gnomAD v4 |
1 | g.55040003C= | CA1167976475 | PCSK9 | c.166C= (p.Pro56=) c.523C= (p.Pro175=) | |
1 | g.55040003C>G | CA340483109 | PCSK9 | c.166C>G (p.Pro56Ala) c.523C>G (p.Pro175Ala) | |
1 | g.55040003C>T | CA038279 | PCSK9 | c.166C>T (p.Pro56Ser) c.523C>T (p.Pro175Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55040004C>A | CA340483115 | PCSK9 | c.167C>A (p.Pro56His) c.524C>A (p.Pro175His) | gnomAD v4 |
1 | g.55040004C= | CA1167976476 | PCSK9 | c.167C= (p.Pro56=) c.524C= (p.Pro175=) | |
1 | g.55040004C>G | CA340483117 | PCSK9 | c.167C>G (p.Pro56Arg) c.524C>G (p.Pro175Arg) | |
1 | g.55040004C>T | CA340483118 | PCSK9 | c.167C>T (p.Pro56Leu) c.524C>T (p.Pro175Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55040005C>A | CA417957434 | PCSK9 | c.168C>A (p.Pro56=) c.525C>A (p.Pro175=) | ClinVar gnomAD v4 |
1 | g.55040005C= | CA1167976477 | PCSK9 | c.168C= (p.Pro56=) c.525C= (p.Pro175=) | |
1 | g.55040005C>G | CA038565 | PCSK9 | c.168C>G (p.Pro56=) c.525C>G (p.Pro175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55040005C>T | CA038584 | PCSK9 | c.168C>T (p.Pro56=) c.525C>T (p.Pro175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55040006G>A | CA038607 | PCSK9 | c.169G>A (p.Glu57Lys) c.526G>A (p.Glu176Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55040006G>C | CA340483122 | PCSK9 | c.169G>C (p.Glu57Gln) c.526G>C (p.Glu176Gln) | gnomAD v4 |
1 | g.55040006G= | CA1142081064 | PCSK9 | c.169G= (p.Glu57=) c.526G= (p.Glu176=) | |
1 | g.55040006G>T | CA22792216 | PCSK9 | c.169G>T (p.Glu57Ter) c.526G>T (p.Glu176Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55040007A= | CA1167976478 | PCSK9 | c.170A= (p.Glu57=) c.527A= (p.Glu176=) | |
1 | g.55040007A>C | CA340483125 | PCSK9 | c.170A>C (p.Glu57Ala) c.527A>C (p.Glu176Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55040007A>G | CA340483127 | PCSK9 | c.170A>G (p.Glu57Gly) c.527A>G (p.Glu176Gly) | gnomAD v4 |
1 | g.55040007A>T | CA340483128 | PCSK9 | c.170A>T (p.Glu57Val) c.527A>T (p.Glu176Val) | |
1 | g.55040008G>A | CA417957435 | PCSK9 | c.171G>A (p.Glu57=) c.528G>A (p.Glu176=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55040008G>C | CA340483130 | PCSK9 | c.171G>C (p.Glu57Asp) c.528G>C (p.Glu176Asp) | |
1 | g.55040008G= | CA1167976479 | PCSK9 | c.171G= (p.Glu57=) c.528G= (p.Glu176=) | |
1 | g.55040008G>T | CA340483131 | PCSK9 | c.171G>T (p.Glu57Asp) c.528G>T (p.Glu176Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55040009C>A | CA340483133 | PCSK9 | c.172C>A (p.His58Asn) c.529C>A (p.His177Asn) | gnomAD v4 |
1 | g.55040009C= | CA1167976480 | PCSK9 | c.172C= (p.His58=) c.529C= (p.His177=) | |
1 | g.55040009C>G | CA340483134 | PCSK9 | c.172C>G (p.His58Asp) c.529C>G (p.His177Asp) | dbSNP gnomAD v4 |
1 | g.55040009C>T | CA340483136 | PCSK9 | c.172C>T (p.His58Tyr) c.529C>T (p.His177Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55040010A= | CA1167976481 | PCSK9 | c.173A= (p.His58=) c.530A= (p.His177=) | |
1 | g.55040010A>C | CA340483138 | PCSK9 | c.173A>C (p.His58Pro) c.530A>C (p.His177Pro) | |
1 | g.55040010A>G | CA340483140 | PCSK9 | c.173A>G (p.His58Arg) c.530A>G (p.His177Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.55040010A>T | CA340483142 | PCSK9 | c.173A>T (p.His58Leu) c.530A>T (p.His177Leu) | gnomAD v4 |
1 | g.55040011C>A | CA340483143 | PCSK9 | c.174C>A (p.His58Gln) c.531C>A (p.His177Gln) | gnomAD v4 |
1 | g.55040011C= | CA1167976482 | PCSK9 | c.174C= (p.His58=) c.531C= (p.His177=) | |
1 | g.55040011C>G | CA340483145 | PCSK9 | c.174C>G (p.His58Gln) c.531C>G (p.His177Gln) | ClinVar gnomAD v4 |
1 | g.55040011C>T | CA038768 | PCSK9 | c.174C>T (p.His58=) c.531C>T (p.His177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55040012G>A | CA16610150 | PCSK9 | c.175G>A (p.Gly59Arg) c.532G>A (p.Gly178Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.55040012G>C | CA340483149 | PCSK9 | c.175G>C (p.Gly59Arg) c.532G>C (p.Gly178Arg) | |
1 | g.55040012G= | CA1167976483 | PCSK9 | c.175G= (p.Gly59=) c.532G= (p.Gly178=) | |
1 | g.55040012G>T | CA340483151 | PCSK9 | c.175G>T (p.Gly59Ter) c.532G>T (p.Gly178Ter) | gnomAD v4 |
1 | g.55040013del | CA2645837769 | PCSK9 | c.176del (p.Gly59GlufsTer24) c.533del (p.Gly178GlufsTer24) | gnomAD v4 |
1 | g.55040013G>A | CA340483155 | PCSK9 | c.176G>A (p.Gly59Glu) c.533G>A (p.Gly178Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55040013G>C | CA340483157 | PCSK9 | c.176G>C (p.Gly59Ala) c.533G>C (p.Gly178Ala) | ClinVar gnomAD v4 |
1 | g.55040013G= | CA1167976484 | PCSK9 | c.176G= (p.Gly59=) c.533G= (p.Gly178=) | |
1 | g.55040013G>T | CA340483153 | PCSK9 | c.176G>T (p.Gly59Val) c.533G>T (p.Gly178Val) | |
1 | g.55040014A>C | CA417957436 | PCSK9 | c.177A>C (p.Gly59=) c.534A>C (p.Gly178=) | |
1 | g.55040014A>G | CA417957437 | PCSK9 | c.177A>G (p.Gly59=) c.534A>G (p.Gly178=) | |
1 | g.55040014A>T | CA417957438 | PCSK9 | c.177A>T (p.Gly59=) c.534A>T (p.Gly178=) | |
1 | g.55040015A= | CA1167976485 | PCSK9 | c.178A= (p.Thr60=) c.535A= (p.Thr179=) | |
1 | g.55040015A>C | CA340483159 | PCSK9 | c.178A>C (p.Thr60Pro) c.535A>C (p.Thr179Pro) | |
1 | g.55040015A>G | CA340483161 | PCSK9 | c.178A>G (p.Thr60Ala) c.535A>G (p.Thr179Ala) | ClinVar |
1 | g.55040015A>T | CA340483163 | PCSK9 | c.178A>T (p.Thr60Ser) c.535A>T (p.Thr179Ser) | |
1 | g.55040016C>A | CA340483165 | PCSK9 | c.179C>A (p.Thr60Asn) c.536C>A (p.Thr179Asn) | gnomAD v4 |
1 | g.55040016C>G | CA340483167 | PCSK9 | c.179C>G (p.Thr60Ser) c.536C>G (p.Thr179Ser) | |
1 | g.55040016C>T | CA340483168 | PCSK9 | c.179C>T (p.Thr60Ile) c.536C>T (p.Thr179Ile) | gnomAD v4 |
1 | g.55040016_55040017dup | CA1167976486 | PCSK9 | c.179_180dup (p.Thr61ProfsTer23) c.536_537dup (p.Thr180ProfsTer23) | dbSNP |
1 | g.55040017C>A | CA417957439 | PCSK9 | c.180C>A (p.Thr60=) c.537C>A (p.Thr179=) | gnomAD v4 |
1 | g.55040017C= | CA1167976487 | PCSK9 | c.180C= (p.Thr60=) c.537C= (p.Thr179=) | |
1 | g.55040017C>G | CA417957440 | PCSK9 | c.180C>G (p.Thr60=) c.537C>G (p.Thr179=) | |
1 | g.55040017C>T | CA417957441 | PCSK9 | c.180C>T (p.Thr60=) c.537C>T (p.Thr179=) | ClinVar dbSNP gnomAD v4 |
1 | g.55040018A>C | CA340483170 | PCSK9 | c.181A>C (p.Thr61Pro) c.538A>C (p.Thr180Pro) | |
1 | g.55040018A>G | CA340483172 | PCSK9 | c.181A>G (p.Thr61Ala) c.538A>G (p.Thr180Ala) | gnomAD v4 |
1 | g.55040018A>T | CA340483173 | PCSK9 | c.181A>T (p.Thr61Ser) c.538A>T (p.Thr180Ser) | |
1 | g.55040019C>A | CA340483175 | PCSK9 | c.182C>A (p.Thr61Lys) c.539C>A (p.Thr180Lys) | gnomAD v4 |
1 | g.55040019C>G | CA340483177 | PCSK9 | c.182C>G (p.Thr61Arg) c.539C>G (p.Thr180Arg) | gnomAD v4 |
1 | g.55040019C>T | CA340483179 | PCSK9 | c.182C>T (p.Thr61Ile) c.539C>T (p.Thr180Ile) | gnomAD v4 |
1 | g.55040020A>C | CA417957442 | PCSK9 | c.183A>C (p.Thr61=) c.540A>C (p.Thr180=) | |
1 | g.55040020A>G | CA417957443 | PCSK9 | c.183A>G (p.Thr61=) c.540A>G (p.Thr180=) | gnomAD v4 |
1 | g.55040020A>T | CA417957444 | PCSK9 | c.183A>T (p.Thr61=) c.540A>T (p.Thr180=) | gnomAD v4 |
1 | g.55040021G>A | CA340483183 | PCSK9 | c.184G>A (p.Ala62Thr) c.541G>A (p.Ala181Thr) | dbSNP gnomAD v4 |
1 | g.55040021G>C | CA039076 | PCSK9 | c.184G>C (p.Ala62Pro) c.541G>C (p.Ala181Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55040021G= | CA1143933191 | PCSK9 | c.184G= (p.Ala62=) c.541G= (p.Ala181=) | |
1 | g.55040021G>T | CA340483181 | PCSK9 | c.184G>T (p.Ala62Ser) c.541G>T (p.Ala181Ser) | gnomAD v4 |
1 | g.55040022C>A | CA10588859 | PCSK9 | c.185C>A (p.Ala62Asp) c.542C>A (p.Ala181Asp) | ClinVar dbSNP gnomAD v4 |
1 | g.55040022C= | CA1167976488 | PCSK9 | c.185C= (p.Ala62=) c.542C= (p.Ala181=) | |
1 | g.55040022C>G | CA340483188 | PCSK9 | c.185C>G (p.Ala62Gly) c.542C>G (p.Ala181Gly) | |
1 | g.55040022C>T | CA340483190 | PCSK9 | c.185C>T (p.Ala62Val) c.542C>T (p.Ala181Val) | gnomAD v4 |
1 | g.55040023C>A | CA417957447 | PCSK9 | c.186C>A (p.Ala62=) c.543C>A (p.Ala181=) | gnomAD v4 |
1 | g.55040023C= | CA1167976489 | PCSK9 | c.186C= (p.Ala62=) c.543C= (p.Ala181=) | |
1 | g.55040023C>G | CA417957446 | PCSK9 | c.186C>G (p.Ala62=) c.543C>G (p.Ala181=) | |
1 | g.55040023C>T | CA417957445 | PCSK9 | c.186C>T (p.Ala62=) c.543C>T (p.Ala181=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.55040024A>C | CA340483192 | PCSK9 | c.187A>C (p.Thr63Pro) c.544A>C (p.Thr182Pro) | |
1 | g.55040024A>G | CA340483193 | PCSK9 | c.187A>G (p.Thr63Ala) c.544A>G (p.Thr182Ala) | ClinVar |
1 | g.55040024A>T | CA340483195 | PCSK9 | c.187A>T (p.Thr63Ser) c.544A>T (p.Thr182Ser) | gnomAD v4 |
1 | g.55040024_55040025delinsAC | CA1167976490 | PCSK9 | c.187_188delinsAC (p.Thr63=) c.544_545delinsAC (p.Thr182=) | |
1 | g.55040025C>A | CA22792245 | PCSK9 | c.188C>A (p.Thr63Asn) c.545C>A (p.Thr182Asn) | ClinVar dbSNP gnomAD v4 |
1 | g.55040025C= | CA1167976491 | PCSK9 | c.188C= (p.Thr63=) c.545C= (p.Thr182=) | |
1 | g.55040025C>G | CA340483197 | PCSK9 | c.188C>G (p.Thr63Ser) c.545C>G (p.Thr182Ser) | |
1 | g.55040025C>T | CA340483200 | PCSK9 | c.188C>T (p.Thr63Ile) c.545C>T (p.Thr182Ile) | ClinVar dbSNP gnomAD v4 |
1 | g.55040026del | CA522960418 | PCSK9 | c.189del (p.Phe64SerfsTer19) c.546del (p.Phe183SerfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55040026C>A | CA417957448 | PCSK9 | c.189C>A (p.Thr63=) c.546C>A (p.Thr182=) | gnomAD v4 |
1 | g.55040026C>G | CA417957449 | PCSK9 | c.189C>G (p.Thr63=) c.546C>G (p.Thr182=) | |
1 | g.55040026C>T | CA417957450 | PCSK9 | c.189C>T (p.Thr63=) c.546C>T (p.Thr182=) | |
1 | g.55040027T>A | CA340483203 | PCSK9 | c.190T>A (p.Phe64Ile) c.547T>A (p.Phe183Ile) | gnomAD v4 |
1 | g.55040027T>C | CA340483205 | PCSK9 | c.190T>C (p.Phe64Leu) c.547T>C (p.Phe183Leu) | |
1 | g.55040027T>G | CA340483206 | PCSK9 | c.190T>G (p.Phe64Val) c.547T>G (p.Phe183Val) | |
1 | g.55040028T>A | CA340483209 | PCSK9 | c.191T>A (p.Phe64Tyr) c.548T>A (p.Phe183Tyr) | |
1 | g.55040028T>C | CA340483211 | PCSK9 | c.191T>C (p.Phe64Ser) c.548T>C (p.Phe183Ser) | gnomAD v4 |
1 | g.55040028T>G | CA340483212 | PCSK9 | c.191T>G (p.Phe64Cys) c.548T>G (p.Phe183Cys) | |
1 | g.55040029C>A | CA340483216 | PCSK9 | c.192C>A (p.Phe64Leu) c.549C>A (p.Phe183Leu) | gnomAD v4 |
1 | g.55040029C= | CA1167976492 | PCSK9 | c.192C= (p.Phe64=) c.549C= (p.Phe183=) | |
1 | g.55040029C>G | CA340483217 | PCSK9 | c.192C>G (p.Phe64Leu) c.549C>G (p.Phe183Leu) | |
1 | g.55040029C>T | CA039731 | PCSK9 | c.192C>T (p.Phe64=) c.549C>T (p.Phe183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55040030C>A | CA340483221 | PCSK9 | c.193C>A (p.His65Asn) c.550C>A (p.His184Asn) | gnomAD v4 |
1 | g.55040030C>G | CA340483220 | PCSK9 | c.193C>G (p.His65Asp) c.550C>G (p.His184Asp) | |
1 | g.55040030C>T | CA340483223 | PCSK9 | c.193C>T (p.His65Tyr) c.550C>T (p.His184Tyr) | gnomAD v4 |
1 | g.55040031A>C | CA340483225 | PCSK9 | c.194A>C (p.His65Pro) c.551A>C (p.His184Pro) | |
1 | g.55040031A>G | CA340483227 | PCSK9 | c.194A>G (p.His65Arg) c.551A>G (p.His184Arg) | dbSNP |
1 | g.55040031A>T | CA340483229 | PCSK9 | c.194A>T (p.His65Leu) c.551A>T (p.His184Leu) | gnomAD v4 |
1 | g.55040032C>A | CA340483230 | PCSK9 | c.195C>A (p.His65Gln) c.552C>A (p.His184Gln) | |
1 | g.55040032C= | CA1167976493 | PCSK9 | c.195C= (p.His65=) c.552C= (p.His184=) | |
1 | g.55040032C>G | CA340483232 | PCSK9 | c.195C>G (p.His65Gln) c.552C>G (p.His184Gln) | |
1 | g.55040032C>T | CA417957451 | PCSK9 | c.195C>T (p.His65=) c.552C>T (p.His184=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.55040033C>A | CA340483234 | PCSK9 | c.196C>A (p.Arg66Ser) c.553C>A (p.Arg185Ser) | ClinVar gnomAD v4 |
1 | g.55040033C= | CA1167976494 | PCSK9 | c.196C= (p.Arg66=) c.553C= (p.Arg185=) | |
1 | g.55040033C>G | CA340483236 | PCSK9 | c.196C>G (p.Arg66Gly) c.553C>G (p.Arg185Gly) | |
1 | g.55040033C>T | CA340483237 | PCSK9 | c.196C>T (p.Arg66Cys) c.553C>T (p.Arg185Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.55040034G>A | CA340483238 | PCSK9 | c.197G>A (p.Arg66His) c.554G>A (p.Arg185His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.55040034G>C | CA340483240 | PCSK9 | c.197G>C (p.Arg66Pro) c.554G>C (p.Arg185Pro) | ClinVar |
1 | g.55040034G= | CA1167976496 | PCSK9 | c.197G= (p.Arg66=) c.554G= (p.Arg185=) | |
1 | g.55040034G>T | CA340483239 | PCSK9 | c.197G>T (p.Arg66Leu) c.554G>T (p.Arg185Leu) | gnomAD v4 |
1 | g.55040034_55040035delinsAA | CA913187509 | PCSK9 | c.197_198delinsAA (p.Arg66Gln) c.554_555delinsAA (p.Arg185Gln) | ClinVar dbSNP |
1 | g.55040034_55040035delinsGC | CA1167976495 | PCSK9 | c.197_198delinsGC (p.Arg66=) c.554_555delinsGC (p.Arg185=) | |
1 | g.55040035C>A | CA417957452 | PCSK9 | c.198C>A (p.Arg66=) c.555C>A (p.Arg185=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55040035C= | CA1167976497 | PCSK9 | c.198C= (p.Arg66=) c.555C= (p.Arg185=) | |
1 | g.55040035C>G | CA417957453 | PCSK9 | c.198C>G (p.Arg66=) c.555C>G (p.Arg185=) | |
1 | g.55040035C>T | CA040149 | PCSK9 | c.198C>T (p.Arg66=) c.555C>T (p.Arg185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55040035_55040036insCGCCT | CA522960419 | PCSK9 | c.198_199insCGCCT (p.Cys67ArgfsTer18) c.555_556insCGCCT (p.Cys186ArgfsTer18) | gnomAD v2 |
1 | g.55040036T>A | CA340483241 | PCSK9 | c.199T>A (p.Cys67Ser) c.556T>A (p.Cys186Ser) | gnomAD v4 |
1 | g.55040036T>C | CA340483242 | PCSK9 | c.199T>C (p.Cys67Arg) c.556T>C (p.Cys186Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.55040036T>G | CA22792256 | PCSK9 | c.199T>G (p.Cys67Gly) c.556T>G (p.Cys186Gly) | dbSNP gnomAD v4 |
1 | g.55040036T= | CA1144138661 | PCSK9 | c.199T= (p.Cys67=) c.556T= (p.Cys186=) | |
1 | g.55040037G>A | CA340483243 | PCSK9 | c.200G>A (p.Cys67Tyr) c.557G>A (p.Cys186Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55040037G>C | CA340483245 | PCSK9 | c.200G>C (p.Cys67Ser) c.557G>C (p.Cys186Ser) | |
1 | g.55040037G= | CA1167976498 | PCSK9 | c.200G= (p.Cys67=) c.557G= (p.Cys186=) | |
1 | g.55040037G>T | CA340483244 | PCSK9 | c.200G>T (p.Cys67Phe) c.557G>T (p.Cys186Phe) | gnomAD v4 |
1 | g.55040038C>A | CA340483246 | PCSK9 | c.201C>A (p.Cys67Ter) c.558C>A (p.Cys186Ter) | dbSNP gnomAD v4 |
1 | g.55040038C= | CA1167976500 | PCSK9 | c.201C= (p.Cys67=) c.558C= (p.Cys186=) | |
1 | g.55040038C>G | CA340483247 | PCSK9 | c.201C>G (p.Cys67Trp) c.558C>G (p.Cys186Trp) | gnomAD v4 |
1 | g.55040038C>T | CA417957454 | PCSK9 | c.201C>T (p.Cys67=) c.558C>T (p.Cys186=) | ClinVar dbSNP gnomAD v4 |
1 | g.55040038_55040039delinsCG | CA1167976499 | PCSK9 | c.201_202delinsCG (p.Cys67=) c.558_559delinsCG (p.Cys186=) | |
1 | g.55040038_55040039insCT | CA522960420 | PCSK9 | c.201_202insCT (p.Ala68LeufsTer16) c.558_559insCT (p.Ala187LeufsTer16) | gnomAD v2 |
1 | g.55040039del | CA040380 | PCSK9 | c.202del (p.Ala68ProfsTer15) c.559del (p.Ala187ProfsTer15) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55040039G>A | CA040390 | PCSK9 | c.202G>A (p.Ala68Thr) c.559G>A (p.Ala187Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55040039G>C | CA340483248 | PCSK9 | c.202G>C (p.Ala68Pro) c.559G>C (p.Ala187Pro) | |
1 | g.55040039G= | CA1167976501 | PCSK9 | c.202G= (p.Ala68=) c.559G= (p.Ala187=) | |
1 | g.55040039G>T | CA340483249 | PCSK9 | c.202G>T (p.Ala68Ser) c.559G>T (p.Ala187Ser) | gnomAD v4 |
1 | g.55040040C>A | CA340483250 | PCSK9 | c.203C>A (p.Ala68Asp) c.560C>A (p.Ala187Asp) | gnomAD v4 |
1 | g.55040040C>G | CA340483251 | PCSK9 | c.203C>G (p.Ala68Gly) c.560C>G (p.Ala187Gly) | |
1 | g.55040040C>T | CA340483252 | PCSK9 | c.203C>T (p.Ala68Val) c.560C>T (p.Ala187Val) | ClinVar dbSNP gnomAD v4 |