TABLE 3.
Several online databases that used to predict the pathogenicity of the variants in the TMC1 and CDH23 genes. The annotation was applied according to the Homo sapiens genome assembly GRCh37 (hg 19)
| Gene | Exon | Variation | PolyPhen‐2 | MutationTaster | SIFT | Pmut | Provean | ExAC | Iranome | 1k Genome | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Protein | Type | Status | ||||||||||
| TMC1 | 10 a | c.530T>C | p.(Ile177Thr) | Missense | Hom. | DC | DC | DC | DC | DC | Novel | Novel | Novel |
| CDH23 | 22 b | c.2334G>A | (p.Trp778*) | Nonsense | Hom. | ND | DC | DC | ND | DC | Novel | Novel | Novel |
a
Has been annotated according to NM_138691.2.
b
Has been annotated based on NM_022124.6.
Abbreviations: Hom, homozygote; ND, not defined.