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