Table 2 Whole Exome Sequencing results of the BEST1 gene of patients A and B
Gene (Transcript) | Location | Nucleotide change | Amino Acid change | Inheritance | PolyPhen-2 prediction | ClinVar Classification |
|---|---|---|---|---|---|---|
BEST1 (NM_004183.4) | Exon 2 | c.103G > A | p.(Glu35Lys) | Autosomal recessive | Probably damaging | Uncertain significance |
Exon 4 | c.313C > A | p.(Arg105Ser) (novel) | Autosomal recessive | Probably damaging | Uncertain significance |