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Gene: DEGS1


DEGS1
delta(4)-desaturase, sphingolipid 1
Number of variants
(Including filtered: 193)
Number of CNVs
N/A
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 34.5 38 z = -0.36
Missense 86.8 80 z = 0.35
LoF 6.2 0 pLI = 0.86
CNV nan nan z = nan

Gene summary

(canonical transcript: ENST00000323699)

Mean coverage


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