Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-55512252-G-C | PCSK9 | c.456G>C | p.Gln152His | Missense | 3/12 | - |
3-184101353-CT-TA | CHRD | c.1363_1364delCTinsTA | p.Leu455* | Nonsense | 12/23 | - |
1-55512250-CA-TG | PCSK9 | c.454_455delCAinsTG | p.Gln152Trp | Missense | 3/12 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
1-55512252-G-T | PCSK9 | c.456G>T | p.Gln152His | Missense | 3/12 | - |