Table 1 Genetic diagnosis for our patients with SIOD
Case | Detected variants NM_014140.4 NP_054859.2 | Confirmed genotype | dbSNP reference number | HGMD number | ACMG evaluation |
|---|---|---|---|---|---|
1 | c.2542G > T (p.Glu848Ter) c.1439C > T (p.Pro480Leu) | Compound heterozygous | rs119473033 rs758367100 | CM020320 CM071090 | Pathogenic Likely pathogenic |
2 | c.1382G > A (p.Gly461Asp) | Homozygous | Unknown | CM128523 | Likely pathogenic |
3 | c.1000C > T (p.Arg334Ter) c.1382G > A (p.Gly461Asp) | Compound heterozygous | Unknown Unknown | CM071093 CM128523 | Pathogenic Likely pathogenic |
4 | c.2542G > T (p.Glu848Ter) | Homozygous | rs119473033 | CM020320 | Pathogenic |
5 | c.2542G > T (p.Glu848Ter) | Homozygous | rs119473033 | CM020320 | Pathogenic |