Table 1 OCRL mutations in patients
Patient | Exon/intron | Mutation | Genomic position (hg19) | Type |
|---|---|---|---|---|
LS100 | Intron 23 | c.2582-1 G>T | chrX:128724122 | Splice acceptor |
LS300 | Intron 22 | c.2470-2 A>G | chrX:128723820 | Splice acceptor |
LS500 | Exon 20 | c.2179delC | chrX:128721069 | Del/frame shift |