PMID: 23064986

Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular genetics
Ahmad, Zahid Z, Adams-Huet, Beverley B, Chen, Chiyuan C, Garg, Abhimanyu A
2012-12

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-21228960-A-G APOB c.10780T>C p.W3594R Missense 26/29 -
1-55509693-G-A PCSK9 c.385G>A p.D129N Missense 2/12 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
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 -
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 -
19-11210926-T-C LDLR c.95T>C p.F32S Missense 2/18 -
19-11221421-A-C LDLR c.1034A>C p.Q345P Missense 7/18 -
19-11224219-T-C LDLR c.1367T>C p.L456P Missense 10/18 -
19-11222207-G-C LDLR c.1078G>C p.D360H Missense 8/18 -
19-11217281-T-G LDLR c.735T>G p.D245E Missense 5/18 -
19-11217281-T-A LDLR c.735T>A p.D245E Missense 5/18 -