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Table 4 Prediction results of mutations found in FGFR2 according to different tools

From: Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing

No

Gene

Nucleotide change

SIFT

SIFT_Predict

PolyPhen_2

PolyPhen_2_Predict

MutationTaster

MutationTaster_Predict

GERP +  + 

GERP +  + _Predict

Case 9

FGFR2

c.1213A > G

0.109

Tolerated

0.088

Benign

1

Disease_causing

5.28

Conserved

Case 14

FGFR2

c.1750A > G

0.041

Damaging

0.637

Possibly_damaging

1

Disease_causing

4.71

Conserved

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172