Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
15-58892675-T-C | ADAM10 | c.2026-752A>G | - | IntronicSNV | - | 14/15 |
15-58903083-A-G | ADAM10 | c.1804+115T>C | - | IntronicSNV | - | 13/15 |
19-40877595-G-A | PLD3 | c.694G>A | p.V232M | Missense | 9/13 | - |
4-96091431-G-A | UNC5C | c.2504C>T | p.T835M | Missense | 15/16 | - |
4-96469926-A-G | UNC5C | c.83T>C | p.L28P | Missense | 1/16 | - |
19-45412314-T-A | APOE | c.761T>A | p.V254E | Missense | 4/4 | - |
19-45411110-T-C | APOE | c.137T>C | p.L46P | Missense | 3/4 | - |
7-91709085-A-G | AKAP9 | c.7638A>G | p.I2546M | Missense | 31/50 | - |
15-58903083-A-T | ADAM10 | c.1804+115T>A | - | IntronicSNV | - | 13/15 |
15-58957371-C-A | ADAM10 | c.510G>T | p.Q170H | Missense | 5/16 | - |
15-58957371-C-G | ADAM10 | c.510G>C | p.Q170H | Missense | 5/16 | - |
14-73659510-T-A | PSEN1 | c.707T>A | p.V236E | Missense | 7/12 | - |
19-40883933-G-A | PLD3 | c.1326G>A | p.A442= | Synonymous | 13/13 | - |
19-40883933-G-C | PLD3 | c.1326G>C | p.A442= | Synonymous | 13/13 | - |
19-40883933-G-T | PLD3 | c.1326G>T | p.A442= | Synonymous | 13/13 | - |
7-91714911-C-T | AKAP9 | c.8935C>T | p.P2979S | Missense | 36/50 | - |
7-91732110-C-T | AKAP9 | c.11300C>T | p.S3767L | Missense | 46/50 | - |
19-45412040-C-T | APOE | c.487C>T | p.R163C | Missense | 4/4 | - |