Table 2 of Benaglio, Mol Vis 2014; 20:843-851.

Table 2. Variant output from NGS screening of PRPF4 and EFTUD2 after filtering for coding changes.

Gene Sample count Genomic Position Coding region change Amino acid change DATABASE
PRPF4 3/200 9:116049532 NM_004697.4:c.233A>G NP_004688.2:p.His78Arg rs1138958
PRPF4 1/200 9:116053770 NM_004697.4:c.559C>G NP_004688.2:p.Pro187Ala rs187531407
EFTUD2 1/200 17:42953357 NM_004247.3:c.814A>G NP_004238.3:p.Thr272Ala rs150633454
EFTUD2 1/200 17:42956968 NM_004247.3:c.658C>T NP_004238.3:p.Arg220Cys -
EFTUD2 1/200 17:42963986 NM_004247.3:c.238A>C NP_004238.3:p.Ile80Leu -

Genomic coordinates refer to assembly GRCh37.p10. Numbering of coding region starts at A of the ATG. Human variation database search included dbSNP 137, 1000 Genomes Project, Exome Variant Server, Complete Genomics control samples and 500 exomes from the CoLaus cohort.

Benaglio, Mol Vis 2014; 20:843-851. http://www.molvis.org/molvis/v20/843

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