| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 19-11216263-C-G | LDLR | c.681C>G | p.Asp227Glu | Missense | 4/18 | - |
| 19-11216263-C-A | LDLR | c.681C>A | p.Asp227Glu | Missense | 4/18 | - |
| 19-11221366-C-T | LDLR | c.979C>T | p.His327Tyr | Missense | 7/18 | - |
| 19-11240282-A-G | LDLR | c.2483A>G | p.Tyr828Cys | Missense | 17/18 | - |
| 19-11227603-G-A | LDLR | c.1774G>A | p.Gly592Arg | Missense | 12/18 | - |
| 19-11227603-G-C | LDLR | c.1774G>C | p.Gly592Arg | Missense | 12/18 | - |
| 19-11223996-G-A | LDLR | c.1229G>A | p.Arg410Lys | Missense | 9/18 | - |
| 19-11240330-G-A | LDLR | c.2531G>A | p.Gly844Asp | Missense | 17/18 | - |
| 19-11223997-G-T | LDLR | c.1230G>T | p.Arg410Ser | Missense | 9/18 | - |
| 19-11223997-G-C | LDLR | c.1230G>C | p.Arg410Ser | Missense | 9/18 | - |
| 19-11223995-AG-GA | LDLR | c.1228_1229delAGinsGA | p.Arg410Glu | Missense | 9/18 | - |
| 19-11223995-AG-GC | LDLR | c.1228_1229delAGinsGC | p.Arg410Ala | Missense | 9/18 | - |
| 19-11227604-G-A | LDLR | c.1775G>A | p.Gly592Glu | Missense | 12/18 | - |
| 19-11224013-C-T | LDLR | c.1246C>T | p.Arg416Trp | Missense | 9/18 | - |
| 1-55509631-T-G | PCSK9 | c.323T>G | p.Leu108Arg | Missense | 2/12 | - |
| 19-11224213-C-A | LDLR | c.1361C>A | p.Thr454Asn | Missense | 10/18 | - |
| 19-11227604-G-C | LDLR | c.1775G>C | p.Gly592Ala | Missense | 12/18 | - |
| 19-11227604-GG-AC | LDLR | c.1775_1776delGGinsAC | p.Gly592Asp | Missense | 12/18 | - |
| 19-11226877-G-T | LDLR | c.1694G>T | p.Gly565Val | Missense | 11/18 | - |