Table 1.
Pathogenic WDR26 Variants
| Individual | cDNA Notation (GenBank:NM_025160.6) | Predicted Effect on Protein (GenBank:NP_079436.4) | Inheritance |
|---|---|---|---|
| 1 | c.1276G>T | p.Glu426∗ | de novo |
| 2 | c.1161_1162del | p.His389Profs∗6 | de novo |
| 3 | c.1457del | p.Val486Glufs∗9 | de novo |
| 4 | c.644T>C | p.Leu215Pro | de novo |
| 5 | c.904_905del | p.Gln302Aspfs∗22 | de novo |
| 6 | c.850G>A | p.Asp284Asn | de novo |
| 7 | c.137C>A | p.Ser46∗ | de novo |
| 8 | c.1570C>T | p.Gln524∗ | de novo |
| 9 | c.762T>G | p.Ser254Arg | de novo |
| 10 | c.1284G>A | p.Trp428∗ | de novo |
| 11 | c.1419+2dupT | splice site | de novo |
| 12 | c.835C>T | p.Arg279∗ | de novo |
| 13 | c.574dupA | p.Ile192Asnfs∗8 | de novo |
| 14 | c.514T>A | p.Trp172Arg | de novo |
| 15 | c.1149_1158+1del | p.Val384fs | de novo |