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 |