| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-11224058-G-A | LDLR | c.1291G>A | p.Ala431Thr | Missense | 9/18 | - |
| 19-11222219-T-C | LDLR | c.1090T>C | p.Cys364Arg | Missense | 8/18 | - |
| 2-21229061-T-C | APOB | c.10679A>G | p.Tyr3560Cys | Missense | 26/29 | - |
| 1-241667402-G-A | FH | c.1048C>T | p.Arg350Trp | Missense | 7/10 | - |
| 19-11221364-C-G | LDLR | c.977C>G | p.Ser326Cys | Missense | 7/18 | - |
| 19-11231154-C-T | LDLR | c.2096C>T | p.Pro699Leu | Missense | 14/18 | - |
| 19-11221442-G-A | LDLR | c.1055G>A | p.Cys352Tyr | Missense | 7/18 | - |
| 1-241667395-C-T | FH | c.1055G>A | p.Gly352Asp | Missense | 7/10 | - |
| 19-11216244-A-G | LDLR | c.662A>G | p.Asp221Gly | Missense | 4/18 | - |
| 9-107620835-G-A | ABCA1 | c.688C>T | p.Arg230Cys | Missense | 7/50 | - |
| 19-11226801-G-A | LDLR | c.1618G>A | p.Ala540Thr | Missense | 11/18 | - |
| 19-11231101-C-A | LDLR | c.2043C>A | p.Cys681* | Nonsense | 14/18 | - |
| 1-55527216-C-A | PCSK9 | c.1850C>A | p.Ala617Asp | Missense | 11/12 | - |
| 19-11226817-G-C | LDLR | c.1634G>C | p.Gly545Ala | Missense | 11/18 | - |
| 19-11216112-C-T | LDLR | c.530C>T | p.Ser177Leu | Missense | 4/18 | - |
| 9-107599350-C-T | ABCA1 | c.1222G>A | p.Val408Met | Missense | 11/50 | - |
| 19-11224438-G-A | LDLR | c.1586G>A | p.Gly529Asp | Missense | 10/18 | - |
| 19-11233973-GCCACCCCTGG-G | LDLR | c.2264_2273delCCACCCCTGG | p.Ala755Glyfs*7 | Frameshift | 15/18 | - |
| 19-11216264-G-A | LDLR | c.682G>A | p.Glu228Lys | Missense | 4/18 | - |
| 19-11200228-G-C | LDLR | c.4G>C | p.Gly2Arg | Missense | 1/18 | - |
| 2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |
| 19-11222300-G-A | LDLR | c.1171G>A | p.Ala391Thr | Missense | 8/18 | - |
| 2-21229068-G-A | APOB | c.10672C>T | p.Arg3558Cys | Missense | 26/29 | - |
| 1-241671979-T-C | FH | c.662A>G | p.Lys221Arg | Missense | 5/10 | - |
| 9-107607805-C-T | ABCA1 | c.766G>A | p.Glu256Lys | Missense | 8/50 | - |
| 19-11231112-CC-C | LDLR | c.2054delC | p.Pro685Argfs*24 | Frameshift | 14/18 | - |
| 9-107602700-G-C | ABCA1 | c.914C>G | p.Ser305Cys | Missense | 9/50 | - |
| 19-11215918-C-CT | LDLR | c.336_337insT | p.Glu113*fs*1 | Nonsense | 4/18 | - |
| 19-11231151-G-A | LDLR | c.2093G>A | p.Cys698Tyr | Missense | 14/18 | - |
| 1-241676942-A-AC | FH | c.338_339insG | p.Asp113Glufs*6 | Frameshift | 3/10 | - |
| 9-107666007-G-T | ABCA1 | c.1-47C>A | - | 5-UTRSNV | 2/50 | - |
| 1-241675292-G-A | FH | c.530C>T | p.Pro177Leu | Missense | 4/10 | - |
| 19-11222247-G-A | LDLR | c.1118G>A | p.Gly373Asp | Missense | 8/18 | - |
| 19-11215919-G-GG | LDLR | c.337dupG | p.Glu113Glyfs*17 | Frameshift | 4/18 | - |
| 19-11221414-G-A | LDLR | c.1027G>A | p.Gly343Ser | Missense | 7/18 | - |
| 19-11231088-G-A | LDLR | c.2030G>A | p.Cys677Tyr | Missense | 14/18 | - |
| 19-11227630-G-C | LDLR | c.1801G>C | p.Asp601His | Missense | 12/18 | - |
| 19-11213432-T-G | LDLR | c.283T>G | p.Cys95Gly | Missense | 3/18 | - |