Table 2 Eight variants identified by whole exome sequencing
From: Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss
Chr | Gene | REF | ALT | SNP Position | dbSNP | ExAC MAF (%) | Protein Effect |
|---|---|---|---|---|---|---|---|
6 | HEY2 | A | AC,C | 126,080,841 | None | None | INDEL |
3 | WDR48 | GTTTTG | GTTT, GTTTG | 39,136,139 | None | None | INDEL |
3 | RPL14 | A | ACTGCTG | 40,503,520 | None | None | INDEL |
5 | MTX3 | G | C | 79,281,458 | None | None | Missense |
5 | ADGRV1 | C | T | 90,144,496 | rs747622607 | 0.003235 | Nonsense |
5 | SPATA9 | A | G | 95,011,189 | rs55796768 | 0.958466 | Missense |
5 | ERAP1 | C | G | 96,139,250 | None | None | Missense |
15 | GOLGA8A | C | T | 34,673,722 | rs76522922 | None | Missense |