OTOF mutations found in NSRAN families
| Family | Exon | Mutation | Consequence | Segregates | R enzyme verification | Control chrom | |
|---|---|---|---|---|---|---|---|
| 1802 | 16 | 1778delG | Frameshift | Yes | BsaBI | 0/188 | |
| 1802 | 48 | 6141G>A | Arg>Gln | Missense | Yes | Sau96I | 0/188 |
| 1721 | 39 | IVS39+1 G>C | Splice site | Yes | BslI | 0/188 | |
| 2117 | 48 | 6285C>G | Pro>Arg | Missense | Yes | BtgI | 0/188 |