| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 8-133883796-T-G | TG | c.478T>G | p.Cys160Gly | Missense | 4/48 | - |
| 3-197717485-G-A | LMLN | c.985G>A | p.Asp329Asn | Missense | 9/16 | - |
| 1-55512247-G-C | PCSK9 | c.451G>C | p.Ala151Pro | Missense | 3/12 | - |
| 1-55509692-C-T | PCSK9 | c.384C>T | p.Gly128Gly | Synonymous | 2/12 | - |
| 1-55509593-C-A | PCSK9 | c.285C>A | p.Ala95Ala | Synonymous | 2/12 | - |
| 1-230820904-TG-T | COG2 | c.1302delG | p.Met434Ilefs*46 | Frameshift | 12/18 | - |
| 8-133894778-C-A | TG | c.810C>A | p.Thr270Thr | Synonymous | 7/48 | - |
| 1-25889641-AGC-TGA | LDLRAP1 | c.613_615delAGCinsTGA | p.Ser205* | Nonsense | 6/9 | - |
| 1-230805194-C-T | COG2 | c.687C>T | p.His229His | Synonymous | 7/18 | - |
| 3-197703473-T-C | LMLN | c.436T>C | p.Cys146Arg | Missense | 5/16 | - |
| 1-55529042-G-A | PCSK9 | c.1864G>A | p.Val622Met | Missense | 12/12 | - |
| 3-197710835-C-T | LMLN | c.750C>T | p.Asn250Asn | Synonymous | 7/16 | - |
| 1-230800295-T-C | COG2 | c.447T>C | p.Ser149Ser | Synonymous | 5/18 | - |
| 3-197717542-GTT-TAA | LMLN | c.1042_1044delGTTinsTAA | p.Val348* | Nonsense | 9/16 | - |
| 8-133900531-G-A | TG | c.2479G>A | p.Ala827Thr | Missense | 10/48 | - |
| 1-25890217-G-T | LDLRAP1 | c.682G>T | p.Ala228Ser | Missense | 7/9 | - |
| 1-241663875-G-A | FH | c.1252C>T | p.His418Tyr | Missense | 9/10 | - |
| 8-133880389-C-T | TG | c.97C>T | p.Pro33Ser | Missense | 2/48 | - |
| 1-230819355-T-A | COG2 | c.1202T>A | p.Leu401His | Missense | 11/18 | - |
| 1-25883687-G-C | LDLRAP1 | c.388G>C | p.Ala130Pro | Missense | 4/9 | - |
| 1-55512240-T-G | PCSK9 | c.444T>G | p.Ser148Ser | Synonymous | 3/12 | - |
| 1-55509692-C-A | PCSK9 | c.384C>A | p.Gly128Gly | Synonymous | 2/12 | - |
| 1-55509692-C-G | PCSK9 | c.384C>G | p.Gly128Gly | Synonymous | 2/12 | - |