Table 5.
Rare coding variants in VTN identified in patients with aHUS
| Chromosome | Position | HGVS | dbSNP | AF aHUS | AF NFE | AF All | Domain |
|---|---|---|---|---|---|---|---|
| chr17 | 26,694,473 | c.1354C>T; p.Arg452Trp | rs560780885 | 0.0025 | 2.22e−4 | 1.12e−4 | Hemopexin |
| chr17 | 26,694,960 | c.1100A>G; p.Lys367Arg | 0.00125 | 0.00 | 4.42e−6 | ||
| chr17 | 26,695,917 | c.802C>T; p.Arg268Trp | rs564459012 | 0.00125 | 2.37e−5 | 7.59e−5 | Hemopexin |
| chr17 | 26,696,628 | c.429T>A; p.His143Gln | 0.00125 | 0.00 | 0.00 | ||
| chr17 | 26,696,693 | c.364G>T; p.Ala122Ser | rs2227741 | 0.00125 | 1.81e−5 | 1.23e−5 | |
| chr17 | 26,696,830 | c.227C>T; p.Thr76Met | rs150757499 | 0.00125 | 1.51e−4 | 1.01e−4 | |
| chr17 | 26,696,968 | c.164C>T; p.Thr55Met | rs147146251 | 0.00125 | 1.58e−5 | 7.58e−5 | Somatomedin B |
| chr17 | 26,696,972 | c.160T>C; p.Tyr54His | 0.00125 | 0.00 | 3.23e−5 | Somatomedin B |
HGVS, standard variant nomenclature by the Human Genome Variant Society; dbSNP, variant identification number from the database for Single Nucleotide Polymorphisms; AF aHUS, allele frequency in aHUS patients; AF NFE, allele frequency in non-Finnish European controls; AF All, allele frequency in all Genome Aggregation Database (gnomAD) subjects.