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Gene: PCSK9

PCSK9
proprotein convertase subtilisin/kexin type 9
Number of variants
(Including filtered: 764)
Number of CNVs
(Including filtered: )
OMIM
PCSK9
Other
Constraint
from ExAC		 Expected
no. variants		 Observed
no. variants		 Constraint
Metric
Synonymous 136.9 111 z = 1.37
Missense 276.9 258 z = 0.56
LoF 16.9 16 pLI = 0.00
CNV 6.2 6 z = 0.02

Gene summary

(canonical transcript: ENST00000302118)

Mean coverage


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