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5.5 kb deletion detected in EYA1 gene. (a) Discordant read pair detected in IGV. Suspected deletion spanning exon 5 and exon 6 of EYA1 is marked in red. (b) Gap PCR and Sanger sequencing of the suspected region. The deletion margin is confirmed with Sanger sequencing as NC_000008.10 (NM_000503.6):c.203-2100_419-1133delinsG (chr8:72231057_72236603delinsC). P, proband; M, mother; F, father; PGM, paternal grandmother.
