PMID: 33173529

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers in genetics
Guo, Qianyun Q, Feng, Xunxun X, Zhou, Yujie Y
2020

69 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
20-3063741-GC-G AVP c.203delG p.G68Afs*44 Frameshift 2/3 -
1-55524303-C-T PCSK9 c.1486C>T p.R496W Missense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55518374-C-T PCSK9 c.709C>T p.R237W Missense 5/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -
2-21229554-C-T APOB c.10186G>A p.A3396T Missense 26/29 -
1-55521681-G-A PCSK9 c.815G>A p.R272Q Missense 6/12 -
1-55518398-G-A PCSK9 c.733G>A p.A245T Missense 5/12 -
1-55518071-G-A PCSK9 c.644G>A p.R215H Missense 4/12 -
1-55509649-T-C PCSK9 c.341T>C p.V114A Missense 2/12 -
1-55524313-G-A PCSK9 c.1496G>A p.R499H Missense 9/12 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -
1-55523127-G-C PCSK9 c.1120G>C p.D374H Missense 7/12 -
1-55523077-G-A PCSK9 c.1070G>A p.R357H Missense 7/12 -
1-55509624-G-A PCSK9 c.316G>A p.G106R Missense 2/12 -
1-55523068-A-T PCSK9 c.1061A>T p.N354I Missense 7/12 -
1-55512252-G-T PCSK9 c.456G>T p.Q152H Missense 3/12 -
1-55512252-G-C PCSK9 c.456G>C p.Q152H Missense 3/12 -
1-55509694-A-G PCSK9 c.386A>G p.D129G Missense 2/12 -
1-55523855-G-A PCSK9 c.1327G>A p.A443T Missense 8/12 -
1-55509631-T-G PCSK9 c.323T>G p.L108R Missense 2/12 -
1-55509594-C-T PCSK9 c.286C>T p.R96C Missense 2/12 -
1-55524201-T-C PCSK9 c.1384T>C p.S462P Missense 9/12 -
1-55509618-C-T PCSK9 c.310C>T p.R104C Missense 2/12 -
1-55509621-C-T PCSK9 c.313C>T p.R105W Missense 2/12 -
1-55529084-A-C PCSK9 c.1906A>C p.S636R Missense 12/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518075-C-A PCSK9 c.648C>A p.F216L Missense 4/12 -
1-55518075-C-G PCSK9 c.648C>G p.F216L Missense 4/12 -
1-230822720-A-G COG2 c.1420A>G p.I474V Missense 13/18 -
1-55518081-A-C PCSK9 c.654A>C p.R218S Missense 4/12 -
1-55509624-G-C PCSK9 c.316G>C p.G106R Missense 2/12 -
1-55518371-G-A PCSK9 c.706G>A p.G236S Missense 5/12 -
1-55512267-C-G PCSK9 c.471C>G p.N157K Missense 3/12 -
1-55512267-C-A PCSK9 c.471C>A p.N157K Missense 3/12 -
2-21250758-T-C APOB c.2009A>G p.E670G Missense 14/29 -
1-55509585-C-T PCSK9 c.277C>T p.R93C Missense 2/12 -
1-55523076-C-T PCSK9 c.1069C>T p.R357C Missense 7/12 -
1-55518422-C-T PCSK9 c.757C>T p.L253F Missense 5/12 -
1-55509595-G-T PCSK9 c.287G>T p.R96L Missense 2/12 -
1-241675302-G-A FH c.520C>T p.P174S Missense 4/10 -
4-68441116-T-C STAP1 c.206T>C p.L69S Missense 3/9 -
1-55524222-C-T PCSK9 c.1405C>T p.R469W Missense 9/12 -
8-131894883-G-A ADCY8 c.2109+1927C>T - IntronicSNV - 8/17
1-55505553-C-CCTG PCSK9 c.43_44insCTG p.L15delinsPV MultiAAMissense 1/12 -
1-55512299-C-A PCSK9 c.503C>A p.A168E Missense 3/12 -
2-21252820-T-C APOB c.1420A>G p.I474V Missense 11/29 -
19-11224041-A-G LDLR c.1274A>G p.N425S Missense 9/18 -
1-55525204-G-C PCSK9 c.1549G>C p.G517R Missense 10/12 -
1-55529108-GT-CG PCSK9 c.1930_1931delGTinsCG p.V644R Missense 12/12 -
1-55527194-GT-CG PCSK9 c.1828_1829delGTinsCG p.V610R Missense 11/12 -
4-68441201-G-C STAP1 c.291G>C p.E97D Missense 3/9 -
4-68441201-G-T STAP1 c.291G>T p.E97D Missense 3/9 -
1-55529086-T-A PCSK9 c.1908T>A p.S636R Missense 12/12 -
4-68441122-T-C STAP1 c.212T>C p.I71T Missense 3/9 -
1-55518323-G-A PCSK9 c.658G>A p.A220T Missense 5/12 -
4-68449380-G-A STAP1 c.619G>A p.D207N Missense 6/9 -
4-68447185-C-T STAP1 c.526C>T p.P176S Missense 5/9 -
1-55509622-G-A PCSK9 c.314G>A p.R105Q Missense 2/12 -
1-55521812-G-T PCSK9 c.946G>T p.G316C Missense 6/12 -
20-3065218-C-A AVP c.103G>T p.D35Y Missense 1/3 -
1-55529086-T-G PCSK9 c.1908T>G p.S636R Missense 12/12 -
1-55505712-CG-C PCSK9 c.202delG p.A68Pfs*15 Frameshift 1/12 -