Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-2181128-C-T | INS | c.287G>A | p.C96Y | Missense | 3/3 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
14-73640373-G-C | PSEN1 | c.438G>C | p.M146I | Missense | 5/12 | - |
14-73640373-G-A | PSEN1 | c.438G>A | p.M146I | Missense | 5/12 | - |
14-73640373-G-T | PSEN1 | c.438G>T | p.M146I | Missense | 5/12 | - |