| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55509689-T-G | PCSK9 | c.381T>G | p.S127R | Missense | 2/12 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
| 1-55509687-A-C | PCSK9 | c.379A>C | p.S127R | Missense | 2/12 | - |
| 1-55509618-C-T | PCSK9 | c.310C>T | p.R104C | Missense | 2/12 | - |
| 5-70240504-G-GC | SMN1 | c.649_649dupC | p.P218Tfs*38 | Frameshift | 6/9 | - |
| X-32834618-C-A | DMD | c.497G>T | p.G166V | Missense | 6/79 | - |
| 16-29824638-AG-A | PRRT2 | c.263delG | p.S88Tfs*2 | Frameshift | 2/4 | - |
| X-107929342-G-T | COL4A5 | c.4298G>T | p.G1433V | Missense | 48/53 | - |
| 7-150648800-C-G | KCNH2 | c.1681G>C | p.A561P | Missense | 7/15 | - |
| 8-134108493-T-G | TG | c.7448T>G | p.I2483S | Missense | 43/48 | - |
| 20-3063681-GC-G | AVP | c.263delG | p.G88Afs*24 | Frameshift | 2/3 | - |