Table 1.

Studied and predicted functional consequences of rare variants in GNRHR

Change (AA)	Functional studies	PolyPhen	Mutation Taster	Panther (score)	NNSPLICE9.0	Classification for this study	In controls?	Reference
M1Ta	Complete LOF	LOF	LOF	—	—	Complete LOF	No	(55)
N10Kb	Partial LOF	Benign	LOF	−7.1	—	Partial LOF	No	(34)
Q11Kb	Partial LOF	Benign	LOF	−4.8	—	Partial LOF	No	(34)
Q11fsX23a	Complete LOF	—	—	—	—	Complete LOF	No
T32Ib	Partial LOF	LOF	LOF	−5.1	—	Partial LOF	No	(35)
A50V	Not published	Benign	Benign	−1.4	—	Benign	No
L83V	Not published	Benign	LOF	−7.7	—	Benign	No
P96Sc	Not published	LOF	LOF	−8.0	—	Predicted LOF	No
Q106Rb	Partial LOF	LOF	LOF	−4.9	—	Partial LOF	2d	(6)
L117Pc	Not published	LOF	LOF	−7.2	—	Predicted LOF	No
R139Ha	Complete LOF	LOF	LOF	−9.6	—	Complete LOF	No	(56)
P146Sc	Not published	LOF	LOF	−6.9	—	Predicted LOF	No
L166Pc	Not published	LOF	LOF	−7.7	—	Predicted LOF	No
S168A	Not published	Benign	LOF	−5.1	—	Benign	No
A171Ta	Complete LOF	Benign	LOF	−5.3	—	Complete LOF	No	(35)
F216F	Not published	—	Benign	—	Benign	Benign	No
S217Rb	Partial LOF	LOF	LOF	−7.8	—	Partial LOF	No	(36)
R262Qb	Partial LOF	LOF	LOF	−6.1	—	Partial LOF	No	(6)
L266Ra	Complete LOF	LOF	LOF	−6.9	—	Complete LOF	No	(35)
C279Ya	Complete LOF	LOF	LOF	−9.9	—	Complete LOF	No	(35)
P320 litera	Complete LOF	LOF	LOF	−9.5	—	Complete LOF	No	(34)

Panther uses the score 0, neutral to −10, deleterious. LOF, Loss of function; —, not assessable.

^aComplete loss of function.

^bPartial loss of function.

^cPredicted to be pathologic; no asterisk: predicted to be benign.

^dFound in two controls in a heterozygous state.