Table 1.
Mutation table
| Proband | Type | Allele 1 | Allele 2 | |||
|---|---|---|---|---|---|---|
| A | Homozygous | c.332T>C | p.Ile111Thr | c.332T>C | p.Ile111Thr | |
| B | Homozygous | c.604G>A | p.Glu202Lys | c.604G>A | p.Glu202Lys | |
| C | Homozygous | c.604+4A>G | splicing | c.604+4A>G | Splicing | |
| D | Compound heterozygous | c.802-8_810delinsGC | Splicing | c.1198C>T | p.Arg400Cys | |
| E | Compound heterozygous | c.242C>G | p.Thr81Arg | c.1198C>T | p.Arg400Cys | |
| F | Compound heterozygous | c.1249dup | p.Thr417Asnfs*2 | Genomic deletion | Genomic deletion | |
| G | Compound heterozygous | c.802-8_810delinsGC | Splicing | c.1198C>T | p.Arg400Cys | |
| H | Homozygous | c.1393A>G | p.Arg465Gly | c.1393A>G | p.Arg465Gly | |
| I | Heterozygous | c.332T>C | p.Ile111Thr | No second allele found | ||
| J | Heterozygous | c.802-8_810delinsGC | splicing | No second allele found | ||