Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
12-25368444-TCT-CAT | KRAS | c.499_501delAGAinsCAT | p.Arg167His | Missense | 5/6 | - |
14-73640371-A-G | PSEN1 | c.436A>G | p.Met146Val | Missense | 5/12 | - |
14-73640373-G-A | PSEN1 | c.438G>A | p.Met146Ile | Missense | 5/12 | - |
14-73664826-T-C | PSEN1 | c.857T>C | p.Leu286Pro | Missense | 8/12 | - |
5-112151259-C-T | APC | c.902C>T | p.Pro301Leu | Missense | 9/16 | - |
14-73640373-G-C | PSEN1 | c.438G>C | p.Met146Ile | Missense | 5/12 | - |
14-73640373-G-T | PSEN1 | c.438G>T | p.Met146Ile | Missense | 5/12 | - |
1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
21-27264099-T-C | APP | c.2146A>G | p.Ile716Val | Missense | 17/18 | - |