Candidate variants identified in this study
| Gene | Mutation cDNA | Protein | Patient | GnomAD NFE AF | CADD | GERP | Reference | ACMG class |
| SIGMAR1 | c.412G>A | p.Glu138Lys | A: II,1; II,2 | 0 | 28.3 | 4.7 | – | 4 |
| SIGMAR1 | c.352+1G>A | Splicing, p.? | Pt 1 | 0 | 28.2 | 5.04 | – | 4 |
| ARHGEF28 | c.1424G>C | p.Arg475Thr | B: II,1; II,2 | 9.72E−06 | 22.7 | 6.07 | – | 3 |
| ARHGEF28 | c.4374T>G | p.Cys1458Trp | B: II,1; II,2 | 0 | 13.55 | −7.95 | – | 3 |
| ARHGEF28 | c.4647G>A lastnucleotide of exon | p.Glu1549Glu | Pt 2 | 0.0001599 | 4.691 | 4.19 | – | 3 |
| ARHGEF28 | c.5122C>G | p.Leu1708Val | Pt 2 | 0 | 17.84 | 2.97 | – | 3 |
| VRK1 | c.961C>T | p.Arg321Cys | C: II,1; II,2 | 4.49E−05 | 24.6 | 5.13 | 20 | 3 |
| PNKP | c.1295_1298+6del | Splicing, p.? | D: II,1; II,2; II,3 | 5.68E−05 | 33 | 3.41 | – | 5 |
| PNKP | c.148C>G | p.Gln50Glu | D: II,1; II,2; II,3 | 8.96E−06 | 26.1 | 5.43 | – | 4 |
| KBTBD13 | c.164C>G | p.Ala55Gly | E: II,2; II,3 | 0 | 12.96 | 4.6 | – | 4 |
| GNE | c.2116T>C | p.Tyr706His | F: II,1; II,2; II,3 | 2.686E−05 | 27.5 | 5.57 | 28 | 4 |
| GNE | c.98A>G | p.Glu33Gly | F: II,1; II,2; II,3 | 0 | 23.5 | 5.13 | 29 | 4 |
| AGRN | c.2971C>T | p.Leu991Phe | G: III,1; III,2 | 0.0001373 | 9.644 | 1.43 | – | 4 |
| AGRN | c.3404A>G | p.Gln1135Arg | G: III,1; III,2 | 0.008326 | 23.7 | 4.16 | – | 4 |
CADD scores: scaled CADD scores (Phred like) for scoring deleteriousness.
GERP scores: GERP conservation score of aminoacidic residues across different species. ACMG (American College of Medical Genetics) guidelines.43
GnomAD, allele frequency aggregated database; NFE, Non-Finnish European.