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. 2021 Jan 19;9:e10711. doi: 10.7717/peerj.10711

Table 4. Distribution of class I–IV variants according to their molecular function/association.

Class I (highest pathogenic potential) variants were predicted disease causing by at least seven of the tools, class II (intermediate pathogenic potential) variants were predicted disease causing by 4–6 of the tools, class III (low pathogenic potential) were predicted disease causing by 1–3 prediction tools, and class IV (benign) was predicted disease causing by none of the tools (0).

Class I Class II Class III Class IV
Cell membrane 0 (0%) 7 (41.2%) 8 (47.1%) 2 (11.8%)
Cytoskeleton 5 (9.8%) 12 (23.5%) 22 (43.1%) 12 (23.5%)
Sarcomere 14 (11.7%) 34 (18.3%) 62 (51.7%) 10 (8.3%)
Metabolism 4 (23.5%) 2 (11.8%) 10 (58.8%) 1 (5.9%)
Intercalated disc 6 (20.0%) 5 (16.7%) 15 (50.0%) 4 (13.3%)
Ion flux 12 (30.8%) 7 (17.9%) 18 (46.2%) 2 (5.1%)
Nucleus 7 (21.2%) 3 (9.1%) 21 (63.6%) 2 (6.1%)