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Table 1 Homozygous SNVs without SNP annotation identified by next-generation sequencing of mapped HBD regions

From: Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Gene Refseq cds (ref./var.) Ratio reference/variant AA change rs number
ABHD12 NM_001042472.2 NM_015600.4 c.193C > T 0/85 p.Arg65X NA
ID1 NM_002165 c.34 G > A 1/54 p.Ala12Thr NA
RGS7 NM_002924 c.200 T > C 1/21 p.Ile67Thr NA
  1. NA, not annotated.