Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
5-74655498-T-G | HMGCR | c.2457+117T>G | - | IntronicSNV | - | 18/19 |
19-45409167-C-T | APOE | c.-24+69C>T | - | intron_variant | - | 1/3 |
2-21259612-A-G | APOB | c.693+360T>C | - | IntronicSNV | - | 6/28 |
19-45409167-C-G | APOE | c.-24+69C>G | - | intron_variant | - | 1/3 |
1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
5-74642855-A-T | HMGCR | c.451-174A>T | - | IntronicSNV | - | 5/19 |
5-74648603-A-T | HMGCR | c.1368+1176A>T | - | IntronicSNV | - | 11/19 |
2-21250758-T-C | APOB | c.2009A>G | p.Glu670Gly | Missense | 14/29 | - |
1-55509213-G-C | PCSK9 | c.208-303G>C | - | IntronicSNV | - | 1/11 |
1-55509213-G-A | PCSK9 | c.208-303G>A | - | IntronicSNV | - | 1/11 |
6-39325078-A-G | KIF6 | c.2155T>C | p.Trp719Arg | Missense | 19/23 | - |