Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
12-25368444-TCT-CAT | KRAS | c.499_501delAGAinsCAT | p.Arg167His | Missense | 5/6 | - |
12-25398284-C-T | KRAS | c.35G>A | p.Gly12Asp | Missense | 2/6 | - |
14-73664826-T-C | PSEN1 | c.857T>C | p.Leu286Pro | Missense | 8/12 | - |
21-27269939-C-A | APP | c.2010G>T | p.Lys670Asn | Missense | 16/18 | - |
21-27269939-C-G | APP | c.2010G>C | p.Lys670Asn | Missense | 16/18 | - |
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 | - |
14-73640371-A-G | PSEN1 | c.436A>G | p.Met146Val | Missense | 5/12 | - |
17-7578406-C-T | TP53 | c.524G>A | p.Arg175His | Missense | 5/11 | - |
21-27264096-C-T | APP | c.2149G>A | p.Val717Ile | Missense | 17/18 | - |
14-73640373-G-A | PSEN1 | c.438G>A | p.Met146Ile | Missense | 5/12 | - |