Table 1.
The 22 overlapped DNSNVs identified by all the trio calling methods and the corresponding genes associated with the diseases.
| Chromosome | Position | Substitution | Gene symbol | phenotype |
|---|---|---|---|---|
| 2 | 25457155 | C→T | DTNB∗ | Muscular dystrophy |
| 2 | 197791183 | C→T | – | – |
| 2 | 241835203 | G→T | – | – |
| 3 | 4669342 | A→T | ITPR1∗ | Gillespie syndrome Spinocerebellar ataxia 15 Spinocerebellar ataxia 29, congenital non-progressive |
| 3 | 48603870 | G→A | UQCRC1 | Predisposition of Alzheimer’s disease |
| 3 | 52547912 | C→G | PBRM1∗ | Clear cell renal cell carcinoma |
| 6 | 109740508 | T→ C | FIG4∗ | Polymicrogyria, bilateral temporooccipital Amyotrophic lateral sclerosis 11 Charcot-Marie-Tooth disease, type 4J Yunis-Varon syndrome |
| 5 | 140730969 | A→G | – | – |
| 8 | 30703949 | C→G | GSR∗ | Hemolytic anemia due to glutathione reductase deficiency |
| 9 | 131041047 | G→T | LAMC3∗ | Cortical malformations, occipital |
| 9 | 131851319 | C→G | – | – |
| 11 | 82698724 | T→C | – | – |
| 14 | 77245340 | C→T | TMEM63C | |
| 14 | 93170535 | G→ A | – | – |
| 14 | 96180196 | C→G | – | – |
| 14 | 106330036 | T→A | – | – |
| 14 | 106993919 | A→G | – | – |
| 15 | 79852462 | G→T | MTHFS | Heart defects; lung cancer |
| 17 | 53638886 | G→A | – | – |
| 19 | 45720935 | C→T | FBXO46 | – |
| 22 | 23029544 | A→C | – | – |
| 22 | 23029596 | A→T | – | – |
∗The genes were reported to be directly associated with genetic diseases in the OMIM database.