| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-11231097-T-C | LDLR | c.2039T>C | p.Leu680Pro | Missense | 14/18 | - |
| 19-11231080-T-TT | LDLR | c.2022dupT | p.Gly675Trpfs*42 | Frameshift | 14/18 | - |
| 19-11215894-A-G | LDLR | c.314-2A>G | - | IntronicSNV | - | 3/17 |
| 2-44072576-G-T | ABCG8 | c.166-718G>T | - | IntronicSNV | - | 2/12 |
| 1-55524303-C-T | PCSK9 | c.1486C>T | p.Arg496Trp | Missense | 9/12 | - |
| 19-11215988-G-T | LDLR | c.406G>T | p.Asp136Tyr | Missense | 4/18 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 11-126243952-G-A | ST3GAL4 | c.-61+17755G>A | - | intron_variant | - | 1/10 |
| 19-11224285-G-A | LDLR | c.1433G>A | p.Gly478Glu | Missense | 10/18 | - |
| 2-44073881-T-C | ABCG8 | c.322+431T>C | - | IntronicSNV | - | 3/12 |
| 19-11231301-G-T | LDLR | c.2140+103G>T | - | IntronicSNV | - | 14/17 |
| 19-11202306-G-T | LDLR | c.67+2015G>T | - | IntronicSNV | - | 1/17 |
| 19-11218965-G-T | LDLR | c.940+775G>T | - | IntronicSNV | - | 6/17 |
| 2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |
| 2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
| 19-11218965-G-A | LDLR | c.940+775G>A | - | IntronicSNV | - | 6/17 |
| 1-109818306-G-T | CELSR2 | c.*1635G>T | - | 3-UTRSNV | 34/34 | - |
| 6-160578860-T-C | SLC22A1 | c.1599-688T>C | - | IntronicSNV | - | 10/10 |
| 19-11213419-T-A | LDLR | c.270T>A | p.Asp90Glu | Missense | 3/18 | - |
| 19-11216111-T-C | LDLR | c.529T>C | p.Ser177Pro | Missense | 4/18 | - |
| 14-24883887-G-A | NYNRIN | c.2932G>A | p.Ala978Thr | Missense | 9/9 | - |
| 1-55505604-G-A | PCSK9 | c.94G>A | p.Glu32Lys | Missense | 1/12 | - |
| 2-44072576-G-C | ABCG8 | c.166-718G>C | - | IntronicSNV | - | 2/12 |
| 6-26093141-G-A | HFE | c.845G>A | p.Cys282Tyr | Missense | 4/6 | - |
| 19-11240294-ACA-A | LDLR | c.2495_2496delCA | p.Thr832Argfs*3 | Frameshift | 17/18 | - |