Table 2.

Potentially pathogenic variants identifed in the SIDS cohort. In three SIDS cases potentially pathogenic variants were found in genes of central chemoreception (PHOX2B/KCNJ16) and in two SIDS cases in genes of peripheral chemoreception (OR51E2/KCMA1).

Case	Gender	Sleeping position	Preterm birth (<37)	Age (months)	rs-Nr.	Gene	HGVS genomic RefSeq-Nr.	HGVS RefSeq-Nr.	Coding effect	cDNA	Protein change	gnomAD ALLMAF	Grantham distance score	AGVGD	SIFT	MAPP	MutationTaster	Polyphen2	Coverage	Heterozygous allele frequency ratio	Pathogenicity
SIDS025	Female	Prone	No	3	–	PHOX2B	CHR4(GRCh37):g.41749442G>A	NM_003924.3	Missense	c.353C>T	A118V	0.000000	64	C65	Deleterious	Bad	Disease-causing	Probably damaging	50	0.50	Uncertain significance
SIDS091	Male	Prone	No	2	–	KCNJ16	Chr17(GRCh37):g.68128790G>T	NM_001270422.1	Missense	c.667G>T	A188S	0.000000	99	C65	Deleterious	NA	Polymorphism	Probably damaging	37	0.44	Uncertain significance
SIDS131	Male	Prone	No	2	rs777767053	OR51E2	Chr11(GRCh37):g.4703407C>A	NM_030774.3	Missense	c.535G>T	V179F	0.000032	50	C45	Deleterious	Bad	Polymorphism	Possibly damaging	78	0.42	Uncertain significance
SIDS107	Male	NA	Yes	4	rs766250689	KCNJ16	Chr17(GRCh37):g.68128637C>A	NM_001270422.1	Missense	c.409C>A	R137S	0.000000	110	C65	Deleterious	NA	Disease-causing	Probably damaging	94	0.45	Uncertain significance
SIDS192	Male	Prone	Yes	3	–	KCNMA1	Chr10(GRCh37):g.78647137T>C	NM_001322837.1	Missense	c.3517A>G	S1173G	0.000011	56	C0	Deleterious	NA	Disease-causing	Probably damaging	45	0.30	Uncertain significance

AGVGD align Grantham variation and Grantham deviation, gnomAD MAF in all populations based on the genome aggregation database, MAF minor allele frequency, MAPP multivariate analysis of protein polymorphism prediction, NA not available, SIFT sorting intolerant from tolerant prediction.