Novel pathogenic mutations in three FH-linked genes (n = 69).

*Nucleotide location number was assigned according to the low-density lipoprotein receptor (LDLR; NM_000527) and proprotein convertase subtilisin/kexin type 9 (PCSK9; NM_174936) mRNA sequences.†Prediction for frameshift mutations of LDLR is not available from the Polyphen-2 and SIFT algorithms and is not marked.‡Public databases include the 1000 Genomes Project, dbSNP135, and NHLBI GO Exome Sequencing Project.§The frameshift mutation changes the cysteine at position 109, as four nucleotides after the deletion compensate for the frameshift effect until threonine (108).||The replacement of nucleotides 2500 to 2502 (GAT) occurred by ‘C’ at the cis position.#The p.R215H (c.644G>A) is a gain-of-function mutation in the catalytic domain of PCSK9. [22, 23] Variants were validated by Sanger sequencing.NA: Not available.Novel pathogenic mutations in three FH-linked genes (n = 69).