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Table 2 Summary of the number of variants detected in each subject

From: Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

Family Subject Number of genes analyzed No.SNV/MNV* No. non-synonymous SNV/MNV
1 III:3 61 414 84
III:4 61 370 74
IV:2 61 391 82
2 III:1 61 386 81
III:2 61 422 87
IV:1 61 435 82
IV:3 61 400 84
3 II:1 61 383 82
II:2 61 339 70
III:1 61 350 74
III:2 61 398 86
4 I:1 84 570 138
I:2 84 569 126
II:1 84 546 131
5 II:2 61 388 72
II:4 61 374 87
III:1 61 361 84
III:2 61 396 85
6 I:1 61 429 96
I:2 61 371 81
II:1 61 378 86
II:2 61 375 84
7 I:1 84 607 139
I:2 84 554 126
II:2 84 582 132
II:1 84 539 117
  1. *SNV, single nucleotide variant; MNV, multiple nucleotide variant.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172