Table 2.
Overview of the MOS variants observed in the families.
| Probands in Families | Genomic Position on chr 8 (bp) | cDNA Change | Protein Change | Mutation Type | Genotype | gnomAD Allele frequency | ExAC Allele frequency | Polyphen Score | Polyphen | SIFT Score | SIFT | CADD_phread Score |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family 1 | 57026257 | c.285C>A | p. Asn95Lys | missense | homozygous | 1.63x10‐5 | 3.29x10‐5 | 0.843 | P | 0 | D | 28.5 |
| Family 2 | 57026126 | c.416T>C | p. Met139Thr | missense | compound heterozygous | N/A | N/A | 0.995 | D | 0 | D | 27.2 |
| 57025805 | c.737G>A | p. Arg246His | missense | N/A | N/A | 0.874 | D | 0.001 | D | 28.1 | ||
| Family 3 | 57025582 | c.960C>A | p. Cys320Ter | nonsense | homozygous | N/A | N/A | N/A | N/A | N/A | N/A | 41.0 |
D, Deleterious, MOS, MOS proto‐oncogene, serine/threonine kinase; N/A, not available; P, Possibly damaging.