From: Identification of missing variants by combining multiple analytic pipelines
Gene | Protein change | Publication | GnomeAD EUR non-Fin BAF | Called by default pipeline |
---|---|---|---|---|
APP | p.V717F | [25] | 0 | Yes |
APP | p.I716T | [26] | 0 | No |
APP | p.A673T | 0.0003632 | No | |
PSEN1 | p.A79V | 0.00002369 | Yes | |
PSEN1 | p.G206A | 0 | Yes | |
PSEN1 | p.H214Y | 0.000008952 | No | |
PSEN1 | p.P218L | [35] | 0.0000179 | Yes |
PSEN1 | p.L262F | [36] | 0 | Yes |
PSEN1 | p.R269H | 0 | Yes | |
PSEN1 | p.A396T | [34] | 0 | Yes |
PSEN2 | p.A85V | [24] | 0.000008955 | Yes |
PSEN2 | p.L238P | [39] | 0.00002687 | Yes |
PSEN2 | p.R284G | [40] | 0.000008952 | No |