Table 1.
List of all rare homozygous variants in the proband
| Chromosome | Chr17 | Chr 8 | Chr17 |
|---|---|---|---|
| Position | 62492543 | 55370796 | 60002317 |
| Gene name | POLG2 | SOX17 | INTS2 |
| Refseq | NM_007215.3 | NM_022454.3 | NM_020748.2 |
| Reference sequence | G | C | T |
| PROBAND: number of reads with reference |
0 | 0 | 2 |
| PROBAND : alternative |
A | A | A |
| PROBAND: number of reads with alternative |
212 | 45 | 113 |
| Other relative tested (NGS or Sanger) with the result |
Father : heterozygous (Sanger) Mother : heterozygous (Sanger) |
Unknown | Unknown |
| Mutation type | Missense | Missense | Intronic |
| Mutation : DNA (HGVS nomenclature) |
c.544C>T | c.98C>A | c.456+5A>G |
| Mutation : protein (HGVS nomenclature) |
p.Arg182Trp | p.Ala33Asp | NA |
| Prediction < SIFT | Damaging | Damaging | NA |
| Prediction < PolyPhen-2 |
Probably damaging |
Benign | NA |
| Prediction < Provean | Deleterious | Deleterious | NA |