| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-11231101-C-A | LDLR | c.2043C>A | p.Cys681* | Nonsense | 14/18 | - |
| 19-11216203-C-T | LDLR | c.621C>T | p.Gly207Gly | Synonymous | 4/18 | - |
| 19-11216203-C-G | LDLR | c.621C>G | p.Gly207Gly | Synonymous | 4/18 | - |
| 19-11216001-A-C | LDLR | c.419A>C | p.Glu140Ala | Missense | 4/18 | - |
| 19-11218079-G-A | LDLR | c.829G>A | p.Glu277Lys | Missense | 6/18 | - |
| 2-21260009-GCGG-G | APOB | c.655_657delCGC | p.Arg219delArg | InFrameDeletion | 6/29 | - |
| 19-11224013-C-T | LDLR | c.1246C>T | p.Arg416Trp | Missense | 9/18 | - |
| 19-11221357-G-A | LDLR | c.970G>A | p.Gly324Ser | Missense | 7/18 | - |
| 2-44072576-G-C | ABCG8 | c.166-718G>C | - | IntronicSNV | - | 2/12 |
| 19-11240278-G-A | LDLR | c.2479G>A | p.Val827Ile | Missense | 17/18 | - |
| 19-11216236-GTGG-G | LDLR | c.654_656delTGG | p.Gly219delGly | InFrameDeletion | 4/18 | - |
| 19-11226822-C-G | LDLR | c.1639C>G | p.Leu547Val | Missense | 11/18 | - |
| 2-44072576-G-T | ABCG8 | c.166-718G>T | - | IntronicSNV | - | 2/12 |
| 19-11224422-GGTGGATCCTG-G | LDLR | c.1570_1579delGTGGATCCTG | p.Val524Phefs*21 | Frameshift | 10/18 | - |
| 19-11218190-G-A | LDLR | c.940G>A | p.Gly314Arg | Missense | 6/18 | - |
| 1-241667510-C-T | FH | c.940G>A | p.Ala314Thr | Missense | 7/10 | - |
| 19-11216084-G-C | LDLR | c.502G>C | p.Asp168His | Missense | 4/18 | - |
| 2-21229161-G-A | APOB | c.10579C>T | p.Arg3527Trp | Missense | 26/29 | - |
| 19-11215944-G-C | LDLR | c.362G>C | p.Cys121Ser | Missense | 4/18 | - |
| 19-11224058-G-A | LDLR | c.1291G>A | p.Ala431Thr | Missense | 9/18 | - |
| 19-11238761-G-A | LDLR | c.2389G>A | p.Val797Met | Missense | 16/18 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 19-11231112-C-T | LDLR | c.2054C>T | p.Pro685Leu | Missense | 14/18 | - |
| 2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |