| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-11218100-T-G | LDLR | c.850T>G | p.C284G | Missense | 6/18 | - |
| 3-121976169-G-A | CASR | c.427G>A | p.G143R | Missense | 3/7 | - |
| 19-45411110-T-C | APOE | c.137T>C | p.L46P | Missense | 3/4 | - |
| 3-122002546-G-A | CASR | c.1745G>A | p.C582Y | Missense | 7/7 | - |
| 8-21984605-CC-AT | HR | c.1349_1350delGGinsAT | p.R450H | Missense | 3/19 | - |
| 14-81609751-G-A | TSHR | c.1349G>A | p.R450H | Missense | 10/10 | - |
| 19-11221373-G-A | LDLR | c.986G>A | p.C329Y | Missense | 7/18 | - |
| 14-81557414-G-C | TSHR | c.394G>C | p.G132R | Missense | 5/10 | - |
| 19-11218100-T-C | LDLR | c.850T>C | p.C284R | Missense | 6/18 | - |
| 3-121976169-G-C | CASR | c.427G>C | p.G143R | Missense | 3/7 | - |
| 1-241682940-AA-GG | FH | c.82_83delTTinsCC | p.L28P | Missense | 1/10 | - |
| 19-11218100-T-A | LDLR | c.850T>A | p.C284S | Missense | 6/18 | - |
| 3-122001053-T-G | CASR | c.1702T>G | p.C568G | Missense | 6/7 | - |
| 3-121973142-G-A | CASR | c.106G>A | p.G36R | Missense | 2/7 | - |
| 19-11231152-C-G | LDLR | c.2094C>G | p.C698W | Missense | 14/18 | - |
| 19-11224347-T-C | LDLR | c.1495T>C | p.S499P | Missense | 10/18 | - |
| 3-122002546-G-T | CASR | c.1745G>T | p.C582F | Missense | 7/7 | - |
| 3-121980868-G-A | CASR | c.986G>A | p.G329D | Missense | 4/7 | - |
| 19-11221373-G-T | LDLR | c.986G>T | p.C329F | Missense | 7/18 | - |