| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 8-133895188-A-G | TG | c.1019A>G | p.Asp340Gly | Missense | 8/48 | - |
| 19-11227554-C-T | LDLR | c.1725C>T | p.Leu575Leu | Synonymous | 12/18 | - |
| 1-55512260-C-T | PCSK9 | c.464C>T | p.Pro155Leu | Missense | 3/12 | - |
| 1-55509624-G-C | PCSK9 | c.316G>C | p.Gly106Arg | Missense | 2/12 | - |
| 19-11223981-A-C | LDLR | c.1214A>C | p.Asn405Thr | Missense | 9/18 | - |
| 19-11240215-G-GG | LDLR | c.2416dupG | p.Val806Glyfs*11 | Frameshift | 17/18 | - |
| 1-55509624-G-A | PCSK9 | c.316G>A | p.Gly106Arg | Missense | 2/12 | - |
| 19-11227602-C-T | LDLR | c.1773C>T | p.Asn591Asn | Synonymous | 12/18 | - |
| 19-11218138-C-A | LDLR | c.888C>A | p.Cys296* | Nonsense | 6/18 | - |
| 19-11224265-A-G | LDLR | c.1413A>G | p.Arg471Arg | Synonymous | 10/18 | - |
| 19-11230881-T-C | LDLR | c.1959T>C | p.Val653Val | Synonymous | 13/18 | - |
| 19-11226817-G-A | LDLR | c.1634G>A | p.Gly545Glu | Missense | 11/18 | - |
| 19-11213413-G-T | LDLR | c.264G>T | p.Arg88Ser | Missense | 3/18 | - |
| 19-11221406-GC-TG | LDLR | c.1019_1020delinsTG | p.Cys340Leu | Missense | 7/18 | - |
| 19-11210912-C-G | LDLR | c.81C>G | p.Cys27Trp | Missense | 2/18 | - |
| 19-11210912-C-A | LDLR | c.81C>A | p.Cys27* | Nonsense | 2/18 | - |
| 1-55512252-G-T | PCSK9 | c.456G>T | p.Gln152His | Missense | 3/12 | - |
| 19-11222300-G-A | LDLR | c.1171G>A | p.Ala391Thr | Missense | 8/18 | - |
| 19-11213413-G-C | LDLR | c.264G>C | p.Arg88Ser | Missense | 3/18 | - |
| 19-11221457-G-C | LDLR | c.1060+10G>C | - | IntronicSNV | - | 7/17 |
| 2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |
| 19-11210912-C-T | LDLR | c.81C>T | p.Cys27Cys | Synonymous | 2/18 | - |
| 19-11233941-A-G | LDLR | c.2232A>G | p.Arg744Arg | Synonymous | 15/18 | - |
| 1-55509622-G-A | PCSK9 | c.314G>A | p.Arg105Gln | Missense | 2/12 | - |
| 19-11230838-T-G | LDLR | c.1916T>G | p.Val639Gly | Missense | 13/18 | - |
| 1-55512252-G-C | PCSK9 | c.456G>C | p.Gln152His | Missense | 3/12 | - |
| 19-11223978-C-T | LDLR | c.1211C>T | p.Thr404Ile | Missense | 9/18 | - |
| 19-11221457-G-A | LDLR | c.1060+10G>A | - | IntronicSNV | - | 7/17 |
| 19-11226800-C-T | LDLR | c.1617C>T | p.Pro539Pro | Synonymous | 11/18 | - |