Table 2.

Rare variant list for the UMOD gene

Family	POS_HG19	REF	ALT	HGVSp	HGVSc
FGJD	20359574	C	A	ENSP00000306279.4: p.Cys315Phe	ENST00000302509.4: c.944G>T
FGIT	20360018	C	G	ENSP00000306279.4: p.Trp202Ser	ENST00000302509.4: c.605G>C
FGDC FGJF	20360306	C	A	ENSP00000306279.4: p.Cys106Phe	ENST00000302509.4: c.317G>T
FGCM FGCO FGGR	20360333	CCTTCGGGGCAGA	CAGGAGGCGG	ENSP00000306279.4: p.Val93_Gly97delinsAlaAlaSerCys	ENST00000302509.4: c.278_289delinsCCGCCTCCT
FGLV	20361045	G	C	ENSP00000460845.1: p.Arg79Gly	ENST00000574195.1: c.235C>G
G48055 (control)	20348046	AG	CA	ENSP00000306279.4: p.Cys582Gly	ENST00000302509.4: c.1743_1744delinsTG

ALT, alternative nucleotide(s); HG19, human genome assembly from Genome Reference Consortium; HGVSc, the Human Genome Variation Society notation for coding sequence name; HGVSp, the Human Genome Variation Society notation for protein sequence name; POS, genomic position; REF, reference nucleotide(s).

Transcripts: Ensembl transcripts available at www.ensembl.org.