Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
1-55529182-C-A | PCSK9 | c.2004C>A | p.Ser668Arg | Missense | 12/12 | - |
X-119602991-A-C | LAMP2 | c.34T>G | p.Ser12Ala | Missense | 1/9 | - |
1-55529182-C-G | PCSK9 | c.2004C>G | p.Ser668Arg | Missense | 12/12 | - |
1-55529180-A-C | PCSK9 | c.2002A>C | p.Ser668Arg | Missense | 12/12 | - |
1-55525195-G-A | PCSK9 | c.1540G>A | p.Ala514Thr | Missense | 10/12 | - |