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Gene: MRPL40


MRPL40
mitochondrial ribosomal protein L40
Number of variants
(Including filtered: 219)
Number of CNVs
(Including filtered: )
OMIM
MRPL40
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 26.2 25 z = 0.14
Missense 64.4 72 z = -0.47
LoF 8.7 4 pLI = 0.02
CNV 6.1 47 z = -2.49

Gene summary

(canonical transcript: ENST00000333130)

Mean coverage


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