. 2021 Jul 9;23(11):2138–2149. doi: 10.1038/s41436-021-01260-4

Table 2.

In silico prediction and population allele frequencies of PCDHGC4 (NM_018928.2; ENST00000306593.1) variants identified in this study.

Family	Genomic location (GRCh37/hg19)	HGVS cDNA	HGVS protein	Allele frequency (gnomAD database^a)	Prediction scores
Family	Genomic location (GRCh37/hg19)	HGVS cDNA	HGVS protein	Allele frequency (gnomAD database^a)	SIFT^b	PolyPhen-2^c	MutationTaster^d	CADD
1	chr5:140866189	c.1449C>G	p.(Asp483Glu)	0	D 0.000	PD 1.00	Polymorphism 0.932	24.1
2	chr5:140864858	c.118C>T	p.(Gln40*)	0	NA	NA	DC 1.000	NA
3;6	chr5:140866203	c.1463C>T	p.(Ala488Val)	0.000004	D 0.003	PD 0.971	Polymorphism 0.528	25.2
4	chr5:140866557	c.1817T>G	p.(Val606Gly)	0	D 0.000	PD 0.968	DC 0.999	26.9
5	chr5:140865064	c.324del	p.(Phe108Leufs*14)	0	NA	NA	DC 1.000	NA
7	chr5:140865983	c.1243C>T	p.(Arg415*)	0	NA	NA	DC 1.000	NA
8	chr5:140866464	c.1724dup	p.(Leu575Phefs*63)	0	NA	NA	DC 1.000	NA
9	chr5:140874373	c.2443-1G>A	NA	0	NA	NA	DC 1.000	NA

cDNA complementary DNA, D deleterious, DC disease causing, NA not applicable, PD probably damaging.

^aAccessed in January 2021.

^bScore 1–0.

^cHumVar prediction, score 0–1.

^dScore 0–1.