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Table 1 Conservation prediction of the two variants by PhyloP vertebrates, PhyloP placental mammals, and GERP++

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

HGVS-c PhyloP vertebrates PhyloP placental mammals GERP +  + _RS
c.2106 + 3A > T 0.767 2.168  
c.11483 T > G 4.426 2.118 5.53
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BMC Medical Genomics

ISSN: 1755-8794

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