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| Family member | c.832C>T (p.Arg278*) | c.929_930insC (p.Arg311Lysfs*7) |
|---|---|---|
| I-1 | Heterozygous | - |
| I-2 | - | Heterozygous |
| II-1 | ? | ? |
| II-2 (Proband) | Heterozygous | Heterozygous |
| II-3 | Heterozygous | Heterozygous |
| II-4 | - | Heterozygous |
| II-5 | - | - |
| III-1 | ? | ? |
