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Gene: PMP22


PMP22
peripheral myelin protein 22
Number of variants
(Including filtered: 214)
Number of CNVs
(Including filtered: )
OMIM
PMP22
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 32.5 35 z = -0.27
Missense 58.0 43 z = 0.96
LoF 5.6 0 pLI = 0.83
CNV 4.6 39 z = -2.45

Gene summary

(canonical transcript: ENST00000395938)

Mean coverage


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