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Table 1 PMS2 exons harboring missense variants with predicted splicing impact (SpliceAI)

From: In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome

Predicted mechanism

Total number of splicing variants

Overrepresented exons

Mean

(CI 95%)

Acceptor gain

38 (32.47%)

6, 11, 14

2.53

(0.45–4.61)

Acceptor loss

50 (42.73%)

6, 8, 14

3.33

(0–7.05)

Donor gain

11 (9.40%)

1, 5, 6, 11

0.40

(0–0.80)

Donor loss

29 (24.78%)

4, 6, 11

1.93

(0–4.16)

  1. Overrepresented exons denote exons with a number of splicing variants above the 95% confidence interval. Percentages are relative to the total number of predicted splicing variants (117 variants with DS > 0.2)
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BMC Genomic Data

ISSN: 2730-6844

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