Skip to main content

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

Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us