Table 1.

In silico prediction of splice site activity for the wild-type and variant sequences.

Program	Default threshold	Score of the wild-type sequence	Score of the variant sequence (c.2254C>T)	Score of c.2254C>A	Score of c.2254C>G
NNSPLICE	0.40	Not recognized as a splice site	1.00	Not recognized as a Splice site	Not recognized as a splice site
ASSP	4.50	Not recognized as a splice site	12.34	Not recognized as a splice site	Not recognized as a splice site
HSF	80.00a	62.92	90.06	No potential alteration of splicing	No potential alteration of splicing
MaxEnt	5.00a	1.09	8.85	0.66	1.20
SpliceRover	No data	Not recognized as a splice site	0.931558	Not recognized as a splice site	Not recognized as a splice site

NNSPLICE, Splice Site Prediction by Neural Network (https://fruitfly.org/seq_tools/splice.html); ASSP, Alternative Splice Site Predictor (https://wangcomputing.com/assp/); HSF, Human Splicing Finder (https://hsf.genomnis.com/home); MaxEntScan (https://hollywood.mit.edu/burgelab/maxent/Xmaxentscan_scoreseq.html); and SpliceRover (https://bioit2.irc.ugent.be/splicerover/).

^aThese thresholds are based on the previous report by Piton et al.³⁸.