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Table 4 Distribution of the pathogenic and presumably pathogenic mutations

From: Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

  Pathogenic and presumably pathogenic mutations (Novel mutations)
MYO7A 26 (7)
USH1C 3 (1)
CDH23 8 (5)
PCDH15 2 (1)
USH1G 3 (2)
USH2A 25 (9)
VLGR1 11 (11)
WHRN 3 (3)
USH3A 0