Case | Exon | Mutation | Consequence | Zygosity | Reference |
---|---|---|---|---|---|
1 | 7 18 | c.637 T > A c.1614C > G | p.Phe213Ile p.His538Gln | Compound heterozygous | [19] |
2 | 6 | c.553 T > A | p.Phe185Ile | Homozygous | [21] |
3 | 6 10 | c.490C > A c.817C > T | p.Pro164Thr p.Arg273Cys | Compound heterozygous | [22] |
4 | 4 10 | c.301G > A c.812delG | p.Val101Met p.Gly271Glufs*131 | Compound heterozygous | current case |