Table 2.

Summary of DCHS1 Variants Detected in Patient

Chr	Gene	Positiona	dbSNP ID	SNP	Residue change	European population frequency (gnomAD database)	Type	Protein prediction CADDb Score
11p15.4	DCHS1	6,662,255	rs145099391	G > A	p.P197L	8.89 × 10−4	Missense Exon 2	22.30
11p15.4	DCHS1	6,646,574	rs753548138	G > A	p.T2334 M	9.02 × 10−6	Missense Exon 19	23.30

^aRefSeq NM_003737.3

^bCADD scores are derived from several different functional annotation tools. A score of 20 means that a variant is amongst the top 1% of deleterious variants in the human genome. The higher the score, the more likely that variant is predicted to be deleterious to the protein [33]