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Table 1 Analysis of Indel and SNP files showing the variants found in the homozygous state in patient IV.2

From: EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

Gene name Refseq Type of variant Mutation Exon #
ATAD5 NM_024857.3 missense c.643G > A; p.Asp215Asn 2
CDRT1 NM_006382.3 synonymous/splice c.1848A > G; p.Lys616Lys 11
EPS8L2 NM_022772.3 frame-shift c.1014delC; p.Ser339Alafs*15 12
NLRP6 NM_138329.1 missense c.2138C > T; p.Ala713Val 5
OR51V1 NM_001004760.2 missense c.631C > G; p.Leu211Val 1
TOLLIP NM_019009.3 missense c.481G > A; p.Asp161Asn 4