Table 2 Overview of all detected as well as filtered variants (SNVs & INDELs) of whole genome data of the index patient II-3 (family 1), the brother (II-2) and mother (I-3) as well as the index patient II-1 (family 2). Filter conditions consist of a FAF95 (gnomAD 4.1.0) \(\le\) 2 %, in hearing loss genes (Deafness Variation Database) and the PTPRQ gene
Proband | Detected variants (SNVs & INDELs) | Rare (FAF95 \(\le\) 2Â %) | In HL genes (DVD) | In PTPRQ gene |
|---|---|---|---|---|
Family 1 Index (II-3) | 4,883,405 | 226,010 | 1,044 | 25 |
Family 1 Brother (II-2) | 4,828,616 | 216,310 | 1,007 | 21 |
Family 1 Mother (I-3) | 4,867,654 | 225,579 | 1,096 | 23 |
Family 2 Index (II-1) | 4,833,828 | 208,122 | 1,020 | 13 |