Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55505647-G-T | PCSK9 | c.137G>T | p.Arg46Leu | Missense | 1/12 | - |
2-21265322-G-A | APOB | c.148C>T | p.Arg50Trp | Missense | 3/29 | - |
2-21238259-C-G | APOB | c.3491G>C | p.Arg1164Thr | Missense | 22/29 | - |
19-45412053-CTCC-C | APOE | c.500_502delTCC | p.Leu167delLeu | InFrameDeletion | 4/4 | - |
2-21224815-GCTG-G | APOB | c.13480_13482delCAG | p.Gln4494delGln | InFrameDeletion | 29/29 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |