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Table 1 Identified mutations in USH2A gene

From: Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome

Family Proband Mutation Type Amino Acid Reference
F1 II-1 c.4384delA Homo p.T1462Lfs*2 Reported
F2 II-3 IVS47 + 1G > A Hetero Splice site Reported
F2 II-3 c.13156A > T Hetero p.I4386F Novel