Table 1.
Patient | Mutation | Genotype | |
---|---|---|---|
1 | c.10450C>T | c.2276G>T | Heterozygous |
2 | c.5776+1G>C | Homozygous | |
3 | c.1663C>G | c.2276G>T | Heterozygous |
4 | c.2276G>T | c.1663C>G | Heterozygous |
5 | c.1434G>C | c.4106C>T | Heterozygous |
6 | c.2898delG | Homozygous | |
7 | c.11864G>A | c.4714C>T | Heterozygous |
8 | c.2299delG | c.1606T>C | Heterozygous |
9 | c.1751G>T | c.2276G>T | Heterozygous |
10 | c.2299delG | c.14074G>A | Heterozygous |