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Table 2 Results of the prediction of the c.549 + 5G > A COL4A2 variant in HSF

From: Identification of a novel intronic variant in COL4A2 gene associated with fetal severe cerebral encephalomalacia and subdural hemorrhage

Mutation

HGVS

Predict Impact

13 110,429,962 G > A

ENST00000360467.7: c.549 + 5G > A

λ Broken WT Donor Site: Alteration of the WT Donor site, most probably affecting splicing (HSF)

λ Broken WT Donor site: Alteration of the WT Donor site, most probably affecting splicing (MaxEnt)

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BMC Medical Genomics

ISSN: 1755-8794

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