| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 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 | - |
| 19-11210912-C-T | LDLR | c.81C>T | p.Cys27Cys | Synonymous | 2/18 | - |
| 11-116619073-C-G | BUD13 | c.*125G>C | - | 3-UTRSNV | 10/10 | - |
| 7-72856269-G-A | BAZ1B | c.*257C>T | - | IntronicSNV | - | 19/19 |
| 19-45395266-G-A | TOMM40 | c.274+320G>A | - | IntronicSNV | - | 2/9 |
| 11-116619073-C-T | BUD13 | c.*125G>A | - | 3-UTRSNV | 10/10 | - |
| 1-63118196-A-C | DOCK7 | c.389+1200T>G | - | IntronicSNV | - | 4/48 |
| 9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
| 20-43042364-C-T | HNF4A | c.416C>T | p.Thr139Ile | Missense | 4/10 | - |
| 1-63118196-A-T | DOCK7 | c.389+1200T>A | - | IntronicSNV | - | 4/48 |
| 9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |