Table 2.

Values of the bioinformatic splicing predictors used for the analysis of the variant of interest (NM_000257.4:c.895+1G>A). According to MaxEntScan, the alternative allele splice site is 15.9 times weaker than the reference allele splice site (8.731 versus 0.549, value of the MaxEntScan_diff parameter is 8.182). SpliceAI predicts the loss of the donor splice site in the next position downstream the variant with a probability of 99%.

Splicing Prediction Parameter	MaxEntScan_ref	MaxEntScan_alt	MaxEntScan_diff	SpliceAI_pred_DS_DL	SpliceAI_pred_DP_DL
Value	8.731	0.549	8.182	0.99	1