Table 1.
Identified variants after the filtration procedure
| Family | Genotype | gene | OMIM No. | Variant |
|---|---|---|---|---|
| KC001 | het | CDC42BPA | 603,412 | ENST00000334218:c.4586G > A:p.Arg1529Gln |
| LRRC16B | 614,716 | ENST00000342740:c.2290G > A:p.Asp764Asn | ||
| KC003 | hom | POLR2M | 606,485 | ENST00000299638:c.42G > C:p.Glu14Asp |
| het | GHITM | – | ENST00000372134:c.770 T > G:p.Val257Gly | |
| MYOF | 604,603 | ENST00000359263:c.2906G > C:p.Cys969Ser | ||
| STX2 | 132,350 | ENST00000392373:c.636 T > G:p.His212Gln | ||
| KC004 | hom | MLLT4 | 159,559 | ENST00000400822:c.5381G > A:p.Gly1794Glu |
| KC005 | het | GOLGA4 | 602,509 | ENST00000356847:c.779G > A:p.Gly260Asp |
| RPAP1 | 611,475 | ENST00000304330:c.190G > A:p.Asp64Asn | ||
| NTN3 | 602,349 | ENST00000293973:c.142G > T:p.Ala48Ser | ||
| TDRD12 | – | ENST00000444215:c.1849 T > C:p.Trp617Arg | ||
| SPATA25 | – | ENST00000372519:c.674C > G:p.Ser225Cys | ||
| KC007 | het | ZNF676 | – | ENST00000397121:c.1240A > G:p.Ile414Val |
| KC008 | het | XIRP1 | 609,777 | ENST00000340369:c.4G > A:p.Ala2Thr |
| COL6A5 | 611,916 | ENST00000265379:c.5014 T > G:p.Phe1672Val | ||
| HLTF | 603,257 | ENST00000310053:c.2269G > T:p.Asp757Tyr | ||
| UTRN | 128,240 | ENST00000367545:c.9911C > A:p.Ser3304Tyr | ||
| TBATA | 612,640 | ENST00000299290:c.130C > T:p.Pro44Ser | ||
| KRTAP17–1 | – | ENST00000334202:c.13C > G:p.Pro5Ala | ||
| SYCP2 | 604,105 | ENST00000357552:c.1278A > T:p.Gln426His | ||
| KC010 | hom | NPIPB5 | – | ENST00000424340:c.1353G > T:p.Lys451Asn |
| KC011 | hom | ZNF765 | – | ENST00000396408:c.1133C > T:p.Thr378Ile |