Table 1. SLC7A8 Humans mutations found in ARHL and controls individuals.
| Phenotype | Age | Sex | Chr. 14 | Variant | Consequence | Code | Frequency | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Esp6500siv2 | 1000 g | Campion | ExAC | Studied cohort | |||||||
| ARHL | 75 | Female | 23597290 | 14:23597290 A / T | p.Val460Glu | V460E | NA | NA | 0.0013 | 0.00002475 | 0.015 |
| ARHL | 57 | Male | 23598917 | 14:23598917 G / A | p.Thr402Met | T402M | NA | NA | 0.0047 | 0.00002471 | 0.015 |
| ARHL | 75 | Male | 23608641 | 14:23608641 C / T (rs142951280) |
p.Val302Ile | V302I | 0.0005 | NA | 0.0047 | 0.0004613 | 0.015 |
| ARHL | 86 | Female | 23598870 | 14:23598870 G / A (rs146946494) |
p.Arg418Cys | R418C | 0.0005 | NA | 0.002 | 0.00002477 | 0.015 |
| control | 50 | Male | 23652101 | 14:23652101 C / G (rs141772308) |
p.Arg8Pro | R8P | 0.0008 | NA | 0.0013 | 0.0008156 | 0.012 |
| control | 50 | Male | 23635621 | 14:23635621 C / T (rs139927895) |
p.Ala94Thr | A94T | 0.0012 | 0.002 | 0.0013 | 0.00202 | 0.012 |
| control | 90 | Female | 23612368 | 14:23612368 C / A (rs149245114) |
p.Arg185Gln | R185L | NA | NA | 0.002 | 0.00002471 | 0.012 |
ARHL (age-related hearing loss). The age (years) of the subject when the Audiogram was performed is indicated. Variant [CHR: position reference/alternate (dbSNP135rsID)]. Consequence [HGUS annotation (protein change)]. Code [short description of the alternate variant]. Frequency of the mutations: Esp6500siv2 (NHLBI Exome Sequencing Project), 1000 g (1000 Genomes Project), Campion (The Allele Frequency Net Database) and ExAC (The Exome Aggregation Consortium).