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Gene: GJA1


GJA1
gap junction protein, alpha 1, 43kDa
Number of variants
(Including filtered: 210)
Number of CNVs
(Including filtered: )
OMIM
GJA1
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 50.9 75 z = -2.09
Missense 124.9 89 z = 1.57
LoF 11.1 3 pLI = 0.22
CNV 3.5 0 z = 0.78

Gene summary

(canonical transcript: ENST00000282561)

Mean coverage


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