Table 3 Mutations identified in the enrolled subjects:
Case no | Base change | Amino acid change | Exon | Variant type | Allele | Clinical significance |
|---|---|---|---|---|---|---|
1 | c.1193T > C | p.Leu398Pro | 7 | Missense* | Homozygous | Pathogenic |
2 | c.1193T > C | p.Leu398Pro | 7 | Missense* | Homozygous | Pathogenic |
3 | c.1431del | p.Ile477Metfs*43 | 9 | Frame shift | Homozygous | Pathogenic |
4 | c.1134C > G | p.Tyr378* | 7 | Nonsense | Homozygous | Pathogenic |
5 | c.868A > G c.2238G > C | p.Asn290Asp p.Trp746Cys | 5 16 | Missense Missense | Heterozygous Heterozygous | Pseudo deficiency Pathogenic |