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Gene: PITHD1


PITHD1
PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1
Number of variants
(Including filtered: 296)
Number of CNVs
(Including filtered: )
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 28.7 23 z = 0.66
Missense 65.0 39 z = 1.58
LoF 8.8 3 pLI = 0.10
CNV 4.3 0 z = 0.92

Gene summary

(canonical transcript: ENST00000246151)

Mean coverage


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