| DNA change | Protein change | Exon/intron | Type | Reported classification | Bateman | SIFT | PolyPhen | Conserved | Protein domain | Remarks | LOVD ID |
| c.3458-34C>T | none | Intron 25 | Intronic variation | Non disease-causing | n.a. | n.a. | n.a. | n.a. |
n.a.
| Found 4 times. In one patient a nonsense mutation was also detected |
|