PMID: 27134244

CardioPulse Articles.

European heart journal
.
2016-05-01

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55509618-C-T PCSK9 c.310C>T p.Arg104Cys Missense 2/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -