Table 2 Functional prediction of the two variants by SpliceAI, dbscSNV_RF, and dbscSNV_ADA algorithms
HGVS_c | SpliceAI | SpliceAI Pred | SpliceAI Interpretation | dbscSNV_ADA_SCORE | dbscSNV_ADA_pred | dbscSNV_RF_SCORE | dbscSNV_RF_pred |
|---|---|---|---|---|---|---|---|
c.2106 + 3A > T | SpliceAI = T|DYNC2H1|0.00|0.00|0.00|0.72|13|-3|-11|-3 | D | 11:103,004,436 (= 103,004,439–3) donor loss 0.72 | 0.9994 | D | 0.93 | D |
c.11483 T > G | SpliceAI = G|DYNC2H1|0.04|0.00|0.02|0.00|-48|-8|10|-2 | P |