Table 1 Variant type combinations reported in MS studies of rare diseases
From: Review: Utility of mass spectrometry in rare disease research and diagnosis
De novo | Het | Chet | Hom | Hemi | Heteroplasmic | Total (%) | |
|---|---|---|---|---|---|---|---|
missense | 5 | 36 | 5 | 47 (23%) | |||
frameshift | 1 | 6 | 7 (3%) | ||||
nonsense | 9 | 9 (4%) | |||||
splice site | 10 | 1 | 11 (5%) | ||||
In frame del | 2 | 2 (1%) | |||||
extension | 1 | 1 (0.5%) | |||||
missense/missense | 20 | 37 | 56 (27%) | ||||
missense/frameshift | 5 | 5 (2%) | |||||
missense/nonsense | 7 | 7 (3%) | |||||
missense/unknown | 3 | 3 (1%) | |||||
frameshift/frameshift | 3 | 13 | 16 (8%) | ||||
frameshift/in frame del | 1 | 1 (0.5%) | |||||
frameshift/splice site | 1 | 1 (0.5%) | |||||
frameshift/unknown | 1 | 1 (0.5%) | |||||
nonsense/nonsense | 1 | 10 | 11 (5%) | ||||
nonsense/splice site | 3 | 3 (1%) | |||||
nonsense/in frame del | 1 | 1 (0.5%) | |||||
nonsense/unknown | 1 | 1 (0.5%) | |||||
splice site/splice site | 1 | 5 | 6 (3%) | ||||
start loss/splice site | 1 | 1 (0.5%) | |||||
start loss/start loss | 2 | 2 (1%) | |||||
in frame del / in frame del | 2 | 2 (1%) | |||||
CNV | 3 | 6 | 9 (4%) | ||||
CNV/CNV | 1 | 1 (0.5%) | |||||
delins/delins | 1 | 1 (0.5%) | |||||
mito | 1 | 2 | 3 (1%) | ||||
Total (%) | 10 (5%) | 70 (34%) | 49 (24%) | 70 (34%) | 7 (3%) | 2 (1%) | 208 |
