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Table 2 Functional prediction of the two variants by SpliceAI, dbscSNV_RF, and dbscSNV_ADA algorithms

From: Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis

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