Fig. 5: Splice site mutations led to aberrant intron splicing.

A A 5’ splice site mutation led to retained intron 9. B 3’ splice site mutation led to retained intron 10. C 3’ splice site mutation led to alternative 3’ splice site splicing. D Expression of MED18 is strongly associated with cryptic exon splicing. E Ratio differences between expressed TA normal/abnormal in predicted biallelic samples and normal BMPCs.