Table 4. Family MRQ15 homozygous and compound heterozygous variants validation using Sanger sequencing and in silico prediction.
| Gene (NM ID) | Protein function | cDNA change | Amino acid change | PhyloP | Grantham distance | SIFT | Mutation taster | Polyphen2 | Zygosity | Segregation in family |
| SF3B3 (NM_012426.2) | RNA splicing | c.82C>A | p.(Gln28Lys) | 6.119 | 53 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| LARGE (NM_004737.4) | N-acetylglucosamine metabolic process | c.251C>G | p.(Ser84Thr) | 5.72 | 58 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| HHAT (NM_001122834.2) | Multicellular organism development | c.1158G>C | p.(Trp386Cys) | 5.433 | 215 | Deleterious | Disease causing | Probably damaging | Heterozygous | Present in affected only |
| NEDD4 (NM_198400.1) | Protein ubiquitination during ubiquitin-dependent protein catabolic process | c.872C>T | p.(Gly291Glu) | 2.915 | 98 | Deleterious | Polymorphism | Probably damaging | Homozygous | No |
| PLCH1 (NM_001130960.1) | Cell division | c.13+1C>T | No | 4.407 | 0 | Unknown | Unknown | Unknown | Homozygous | No |
| PDS5B (NM_015032.3) | Intercellular signaling cascade | c.25-1G>A | No | 6.172 | 0 | Unknown | Unknown | Unknown | Homozygous | No |
| WASF1 (NM_003931.2) | Protein complex assembly | c.4+1C>T | No | 5.63 | 0 | Unknown | Unknown | Unknown | Homozygous | No |
| DENND2A (NM_015689.3) | Unknown | c.54G>C | p.(Pro297Arg) | 2.342 | 110 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| HMCN1 (NM_031935.2) | Response to stimulus | c.7163G>A | p.(Gly2388Glu) | 4.013 | 98 | Deleterious | Disease causing | Probably damaging | Heterozygous | No |
| HMCN1 (NM_031935.2) | Response to stimulus | c.13190G>A | p.(Arg4397Gln) | 0.754 | 43 | Tolerated | Disease causing | Probably not damaging | Heterozygous | No |
| MED13L (NM_015335.4) | Regulation of transcription from RNA polymerase II promoter | c.1447G>T | p.(Pro483Thr) | 3.577 | 38 | Tolerated | Disease causing | Probably not damaging | Heterozygous | No |
| MED13L (NM_015335.4) | Regulation of transcription from RNA polymerase II promoter | c.740A>G | p.(Leu247Pro) | 2.644 | 98 | Tolerated | Disease causing | Probably not damaging | Heterozygous | No |
| ZNF772 (NM_001024596.2) | Regulation of transcription, DNA-dependent | c.1145T>G | p.(Glu382Ala) | 2.468 | 107 | Tolerated | Disease causing | Probably not damaging | Heterozygous | No |
| ZNF772 (NM_015335.4) | Regulation of transcription, DNA-dependent | c.878G>T | p.(Pro293His) | 1.828 | 77 | Deleterious | Polymorphism | Probably damaging | Heterozygous | No |
NM, mRNA accession number; PhyloP, Phylogenetic P-values; Polyphen, Polymorphism phenotyping; SIFT, Sorting intolerance from tolerance, Mutation taster (http://www.mutationtaster.org).