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Gene: HAPLN1


HAPLN1
hyaluronan and proteoglycan link protein 1
Number of variants
(Including filtered: 302)
Number of CNVs
(Including filtered: )
OMIM
HAPLN1
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 56.0 61 z = -0.41
Missense 122.2 123 z = -0.03
LoF 11.7 3 pLI = 0.26
CNV 5.8 0 z = 1.14

Gene summary

(canonical transcript: ENST00000274341)

Mean coverage