Table 1.
List of rare sequence variants found in patient in heterozygous state.
| Gene/Chr–Exon | Nucleotide/Amino acid change | Freq ExAC | Freq GnomAD | Freq 1000G | dbSNP | VarSome | Calcification-related genes | RetNet gene | References |
|---|---|---|---|---|---|---|---|---|---|
| ABCA4 Chr1–Ex13 | c.1928T>G p.Val643Gly |
0.001346 | 0.00172 | 0.0010 | rs61754024 | LP | ✓ | (14) | |
| ABCC6 Chr16–Ex29 | c.4198G>A p.Glu1400Lys |
0.000009 | / | / | rs63751241 | P | ✓ | ✓ | (10) |
| AGBL5 Chr2–Ex12 | c.2227T>G p.Ser743Ala |
0.000058 | 0.00006 | / | rs779635578 | VUS | ✓ | This study | |
| CLUAP1 Chr16–Ex5 | c.465T>A p.Tyr155Ter |
/ | / | / | / | P | ✓ | This study | |
| GGCX Chr2–Ex2 | c.193A>G p.Met122Val |
/ | / | / | / | LP | ✓ | This study | |
| KCNV2 Chr9–Ex1 | c.349G>A p.Gly117Ser |
0.00017 | 0.000064 | 0.0002 | rs200353727 | VUS | ✓ | This study | |
| SERPINF1 Chr9–Ex3 | c.200G>A p.Arg67Gln |
0.000025 | / | / | rs753681259 | VUS | ✓ | (15) |
Chr, chromosome; Freq, frequency; ExAC, Exome Aggregation Consortium; GnomAD, Genome Aggregation Database; 1000G, 1000 Genomes; /, no data available; dbSNP, single nucleotide polymorphism database; VarSome, https://varsome.com; LP, likely pathogenic; P, pathogenic; VUS, uncertain significance; RetNet, https://sph.uth.edu/retnet/.