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Table 1 The annotation of the reported variant and the predictions tools in silico

From: Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis

Variant coordinates

In silico prediction tools

Deleterious threshold

Chr19(GRCh37):g.7709498A > G

Ada Score: 1.0000

Ada score < 0.6

NM_001272034.1:c.1141-2A > G

Rf score: 0.9360

RF score < 0.6

 

phyloP100way: 7.39

 < 1.5

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BMC Medical Genomics

ISSN: 1755-8794

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