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. 2020 Aug 19;15(8):e0237803. doi: 10.1371/journal.pone.0237803

Table 3. Patients with nonsense mutations in the same exons but with discordant phenotypes.

DMD EXON FRAME TOT DMD BMD DMD/BMD Not Defined Other
Nonsense mutations Patients Nonsense mutations Patients Nonsense mutations Patients Nonsense mutations Patients Nonsense mutations Patients Nonsense mutations Patients
1 - 4 35 1 1 3 34 0 0 0 0 0 0
2 out 4 5 0 0 3 3 0 0 1 2 0 0
3 in 5 16 2 12 2 3 1 1 0 0 0 0
5 in 7 18 3 4 1 3 3 11 0 0 0 0
21 out 18 44 12 37 1 2 1 1 3 3 1 1
25 in 18 58 7 15 6 14 4 27 1 2 0 0
26 in 21 48 13 37 1 1 1 1 5 8 1 1
27 in 13 19 9 14 2 2 0 0 1 1 1 2
28 in 12 24 5 10 2 4 3 8 0 0 2 2
29 in 12 57 4 8 4 34 1 10 3 5 0 0
31 in 7 12 0 0 4 9 2 2 1 1 0 0
33 in 14 32 11 27 1 1 1 1 0 0 1 3
35 in 15 55 8 48 3 3 2 2 2 2 0 0
37 in 10 39 8 16 2 23 0 0 0 0 0 0
38 in 9 34 2 4 3 13 4 17 0 0 0 0
39 in 16 65 8 49 2 3 1 5 3 3 2 5
40 in 16 34 9 21 1 1 3 6 2 2 1 4
41 in 20 76 10 58 1 1 4 11 4 4 1 2
49 in 5 10 1 1 1 5 1 1 2 3 0 0
56 out 8 11 6 9 1 1 1 1 0 0 0 0
72 in 2 10 0 0 1 7 1 3 0 0 0 0
73 in 2 2 0 0 1 1 0 0 1 1 0 0
74 in 10 18 4 5 3 4 2 8 1 1 0 0
75 out 8 14 3 7 2 2 1 3 1 1 1 1
76 out 6 13 2 6 3 6 1 1 0 0 0 0