Table 1. Overview of data production.
Gene | NCBI reference sequence | Nucleotide change | Amino acid substitution | Chromosomal location | Gene subregion | Allele status |
EYS | NM_001142800 | c.7723+1G>A | - | Chr6:6449797 | IN39 | Het |
LRP5 | NM_002335 | c.3361 A>G | p.Asn1121Asp | Chr11:68192694 | EX15/CDS1 | Het |