Table 2.

Exome Sequencing: Rare, Heterozygous, Nonsynonymous Variations Shared by Two Individuals of Pedigree A

Gene	Position (hg19)	dbSNP	Transcript	Variations		Control Genotypes			Segregation
				Nucleotide	Amino Acid	1/1	1/2	2/2
PLK3	chr1:45270359		NM_004073.2	c.1543T>A	p.Ser515Thr	669	0	0	4 of 7
C8A	chr1:57383357	rs41285938	NM_000562.2	c.1723C>T	p.Pro575Ser				5 of 7
ADCY10	chr1:167787479	rs41270737	NM_018417.4	c.4313A>G	p.Asn1438Ser				2 of 7
LAMB2	chr3:49166460		NM_002292.3	c.1724G>A	p.Arg575Gln	647	28	0	5 of 7
NOM1	chr7:156762317		NM_138400.1	c.2503G>A	p.Ala835Thr	670	0	0	3 of 7
KIF22	chr16:29816237		NM_007317.1	c.1780G>A	p.Asp594Asn	665	6	0	6 of 7
SEZ6L2	chr16:29899021		NM_012410.2	c.947G>A	p.Arg316His	660	4	0	7 of 7
VPS35	chr16:46696364		NM_018206.4	c. 1858G>A	p.Asp620Asn	1069a	0	0	7 of 7
NLRP1	chr17:5421150		NM_001033053.2	c.3985G>A	p.Val1329Ile	666	4	0	3 of 7
NEURL4	chr17:7221197		NM_001005408.1	c.4109G>A	p.Arg1370Gln				3 of 7

Rare variations revealed by exome sequencing were checked in 670 controls (KORA S4) by MALDI-TOF analysis. The variant allele was denoted as “2,” the reference allele as “1.”

^aThis number includes additional 554 Austrian control individuals investigated by a TaqMan genotyping assay. Segregation shows the number of affected pedigree A individuals who carry the variant allele.