Table 2.
The non-pathogenic variants identified by panel sequencing.
| Gene (Chromosome) | Nucleotide alternation (exon) | Amino acid alternation | MAF | Genotype of the proband(male) | Genotype of the father (Normal phenotype) | Genotype of the mother (Normal phenotype) | Related disease (Hereditary mode) |
|---|---|---|---|---|---|---|---|
| GALC (chr14) | c.163T>C (exon 1) | p.F55L(NM_000153) | Null | Het | Het | WT | Krabbe disease (OMIM:245200, AR) |
| IFIH1 (chr2) | c.2115A>C (exon 11) | p.R705S(NM_022168) | <0.0098 | Het | Het | WT | Aicardi-Goutieres syndrome 7(OMIM:615486, AD) |
| MTFMT (chr15) | c.797G>A (exon 6) | p.R266H(NM_139242) | <0.003 | Het | WT | Het | Combined oxidative phosphorylation deficiency 15(OMIM:614947, AR) |
| NEB (chr2) | c.19295A>G (exon 124) | p.Q6432R(NM_001271208) | <0.015 | Het | Het | WT | Nemaline myopathy 2(OMIM:256030, AR) |
| PIEZ02 (chr18) | C.7011-3C>A (IVS 44) | _(NM_022068) | <0.017 | Het | Het | WT | Marden-Walker syndrome (OMIM:248700, AD) |
| TINF2 (chr14) | c.573A>T (exon 5) | p.Q191H(NM_012461) | Null | Het | WT | Het | Revesz syndrome (OMIM:268130, AD) |