Table 2 Genetic mutations carried by the proband
| Â | Position | Sequence | Protein | DNA changes | AA changes | MutationTaster2 | Polyphen2 | PROVEAN |
|---|---|---|---|---|---|---|---|---|
CACNA1C | chr12-2797746 | NM_000719 | Q13936 | c.5918G>C | p.R1973P | Disease causing (prob: 0.999) | Possibly damaging (score: 0.887) | Deleterious (score: −3.153) |
DES | chr2-220285033 | NM_001927 | P17661 | c.700G>A | p.E234K | Disease causing (prob: 0.999) | Probably damaging (score 0.999) | Deleterious (score: −3.292) |
MYPN | chr10-69970097 | NM_001256268 | NP_001243197.1 | c.2966G>A | p.R989H | Disease causing (prob: 0.999) | Probably damaging (score 1.000) | Deleterious (score: −2.693) |