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.