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Genotypes of all family members.
| Family member | Genotype | Zygosity | |
|---|---|---|---|
| Variant 1 | Variant 2 | ||
| III-1 | c.9690+1G>A | Heterozygous | |
| III-2 | c.9690+1G>A | Heterozygous | |
| III-3 | c.4011insA | Heterozygous | |
| III-4 | c.3971C>A | Heterozygous | |
| IV-2 | c.9690+1G>A | Heterozygous | |
| IV-3 | Wild | ||
| IV-4 | c.9690+1G>A | Homozygous | |
| IV-5 | c.3971C>A | c.4011insA | Compound heterozygous |
| V-1 | c.9690+1G>A | Heterozygous | |
| V-2 | Wild | ||
| V-3 | c.3971C>A | c.9690+1G>A | Compound heterozygous |
| V-4 | c.4011insA | c.9690+1G>A | Compound heterozygous |
