Interested in working on the development of this resource? Apply here.

Gene: TTR


TTR
transthyretin
Number of variants
(Including filtered: 192)
Number of CNVs
(Including filtered: )
OMIM
TTR
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 25.4 22 z = 0.42
Missense 55.0 40 z = 0.99
LoF 5.3 2 pLI = 0.13
CNV 4.1 27 z = -2.01

Gene summary

(canonical transcript: ENST00000237014)

Mean coverage


Loading variants...