Table 2.
The novel mutations diagnosed by NGS
| Familiy number | Age of proband (years old) | CK value (U/L) | ExonID | Base change | Effect | Mutation type | Carrier status of mother |
|---|---|---|---|---|---|---|---|
| 13 | 8 | 8616 | Exon6 | c.412A > T | p.Lys138* | Nonsense | Yes |
| 16 | 3 | 12,817 | Exon23 | c.2962delT | p.Ser988Leufs*16 | Small deletions | Yes |
| 17 | 1 | 9880 | Exon75 | c.10705A > T | p.Lys3569* | Nonsense | Yes |
| 18 | 10 | 19,964 | Exon47 | c.6850dupA | p.Ser2284Lysfs*7 | Small insertions | Yes |
| 19 | 11 | 4880 | Exon36 | c.5139dupA | p.E1714Rfs*5 | Small insertions | Yes |
| 20 | 5 | 6179 | Exon43 | c.6201_6203delGCCinsCCCA | p.Val2069Cysfs*14 | Small deletions and insertions | Yes |
CK Creatine kinase