Table 4.
Mutations
| Patient no. | Mutation | Mutation type | Blake/Verloes criteria |
|---|---|---|---|
| 1 | Nonsense | Truncating | Positive |
| 2 | Missense | Non-truncating | Negative |
| 3 | Nonsense | Truncating | Positive |
| 4 | Nonsense | Truncating | Positive |
| 5 | Splice-site | Non-truncating | Negative |
| 6 | Splice-site | Non-truncating | Positive |
| 7 | Nonsense | Truncating | Positive |
| 8 | Missense | Non-truncating | Positive |
| 9 | Splice-site | Non-truncating | Atypical |
| 10 | Splice-site | non-truncating | Atypical |
| 11 | Missense | Non-truncating | Atypical |
| 12 | No mutation | Atypical | |
| 13 | Missense | Non-truncating | Negative |
| 14 | Frameshift | Truncating | Positive |
| 15 | Frameshift | Truncating | Positive |
| 16 | Nonsense | Truncating | Positive |
| 17 | Nonsense | Truncating | Positive |
| 18 | Missense | Non-truncating | Positive |
| 19 | Nonsense | Truncating | Positive |
| 20 | Frameshift | Truncating | Positive |
| 21 | Splice-site | Non-truncating | Negative |
| 22 | Nonsense | Truncating | Positive |
| 23 | Splice-site | Non-truncating | Positive |
| 24 | Nonsense | Truncating | positive |
| 25 | Frameshift | Truncating | Positive |
| 26 | Frameshift | Truncating | Positive |
| 27 | Frameshift | Truncating | Positive |
| 28 | Missense | Non-truncating | Positive |
| 29 | Frameshift | Truncating | Positive |
| 30 | UV missense | Atypical | |
| 31 | Frameshift | Truncating | Partial |
| 32 | Nonsense | Truncating | Positive |
| 33 | Splice-site | Non-truncating | Positive |
| 34 | Missense | Non-truncating | Positive |
| 35 | Splice-site | Non-truncating | Atypical |
| 36 | Nonsense | Truncating | Positive |
| 37 | Nonsense | Truncating | Positive |
| 38 | Frameshift | Truncating | Positive |
| 39 | Nonsense | Truncating | Positive |
| 40 | Frameshift | Truncating | Positive |
| 41 | Nonsense | Truncating | Atypical |
| 42 | Deletion | Truncating | Positive |
UV unknown variant