Table 3.
Rare variants shared by four affected individuals and segregation analysis
| Gene ID | Protein isoform | cDNA position | Amino acid position | phyloP | Segregation | Grantham score | SIFT | Mutation Taster | PolyPhen-2 |
|---|---|---|---|---|---|---|---|---|---|
| TP53BP2 | NM_001031685 | 109C>T | p.Val37Met | 4.135 | Yes | 21 | Deleterious | Disease causing | Probably damaging |
| MAPKAPK2 | NM_032960 | 305G>A | p.Arg102His | 5.691 | Yes | 29 | Deleterious | Disease causing | Probably damaging |
| TGFBI | NM_000358 | 895G>A | p.Asp299Asn | 5.884 | No | 23 | Tolerated | Disease causing | Probably damaging |
| ADSSL1 | NM_199165 | 578C>T | p.Ser193Phe | 5.657 | No | 155 | Deleterious | Disease causing | Probably damaging |
| NCEH1 | NM_001146276 | 142C>T | p.Ala48Thr | 5.305 | No | 58 | Tolerated | Disease causing | Probably damaging |
| RNF157 | NM_052916 | 1913C>G | p.Cys638Ser | 5.254 | No | 112 | Tolerated | Disease causing | Probably damaging |
| PHC3 | NM_024947 | 1840C>T | p.Glu614Lys | 3.961 | No | 56 | Tolerated | Disease causing | Possibly damaging |
| SLITRK3 | NM_014926 | 2581G>A | p.Arg861Cys | 3.886 | No | 180 | Deleterious | Disease causing | Possibly damaging |
| RYR2 | NM_001035 | 8162 T>C | p.Ile2721Thr | 3.683 | No | 89 | Deleterious | Disease causing | Possibly damaging |