Table 3 Summary data on variants by classification status a
From: Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech
| Â | Average gene count | Gene range | Average variant count | Variant range |
|---|---|---|---|---|
Highly likely deleterious and rare (<0.03) | 49.40 | (44 to 54) | 59.20 | (53 to 66) |
Rare (<0.03) and premature stop | 17.40 | (16 to 27) | 21.80 | (19 to 27) |
Rare (<0.03) and read-through | 0.25 | (0 to 1) | 0.40 | (0 to 1) |
Rare (<0.03) and start codon changing | 0.00 | (0 to 1) | 0.60 | (0 to 1) |
Rare (<0.03) and splice site | 6.40 | (3 to 8) | 6.40 | (3 to 8) |
Rare (<0.03) and frame shift insertion | 15.40 | (12 to 20) | 17.60 | (13 to 22) |
Rare (<0.03) and frame shift deletion | 11.80 | (6 to 17) | 12.00 | (6 to 17) |
Possibly deleterious and rare (<0.03) | 207.00 | (181 to 219) | 239.80 | (238 to 249) |
Damaging HumVar PolyPhen NS change | 114.60 | (105 to 127) | 137.20 | (120 to 152) |
Damaging SIFT NS change | 96.00 | (78 to 111) | 130.40 | (111 to 153) |
Protein coding in-frame insertion | 2.00 | (0 to 6) | 2.00 | (0 to 6) |
Protein coding in-frame deletion | 4.20 | (0 to 6) | 4.20 | (0 to 6) |
Intronic near-splice | 86.20 | (76 to 84) | 91.80 | (78 to 101) |
Any clinical association and rare (≤0.03) | 11.80 | (1 to 16) | 12.60 | (1 to 14) |
Prioritized clinically associated with CAS but not rare | 0.40 | (0 to 1) | 0.40 | (0 to 1) |
Prioritized clinically associated with CAS and rare (<0.03) | 0.40 | (0 to 1) | 0.40 | (0 to 1) |