Table 1.
Pathogenic sequence variants identified in this study
| Exon | DNA level | Protein level | Consequence | Subject | Age of Onset (year) | Control chromo-some |
|---|---|---|---|---|---|---|
| 13 | c.1194 T > A | p.D398 E | Missense | 0501207 | 19 | 0/184 |
| 16 | c.1740delC | p.S581PfsX40 | Frameshift | 0501800 | 0 | 0/184 |
| 16 | c.1780 G > A | p.E594K | Missense | 0501768 | 12 | 0/184 |
| 25 | c.2975_2978 | p.Q994VfsX6 | Frameshift | 0400695 | 1 | 0/184 |
| delAG | ||||||
| 40 | c.4819C > T | p.R1607W | Missense | 0400695 | 1 | 0/184 |
*Nomenclature of mutations is based on GenBank reference sequence accession number NM_194248.1. The nucleotide 1 is its first nucleotide of the translation initiation codon.