Table 3. PCSK5 variants and corresponding phenotypes in fetal cases with VACTERL association.
| Patient/ fetal case | Detected variant | V | A | C | T | E | R | L | Other birth defects | Inheritance | Presence in controls | GT freq. (dbSNP) | |
| FC4 | c.4958G>A | x | x | x | x | x | na | 0/95 | rs201136565 | ||||
| p.Cys1653Tyr | A/G 0.3% | ||||||||||||
| FC8 | c.2324G>A | x | x | x | x | na | 0/95 | rs200195178 | |||||
| p.Arg775Gln | no frequency data | ||||||||||||
| FC12 | c.4642G>A | x | x | x | x | x | na | 0/95 | rs201074605 | ||||
| p.Glu1548Lys | A/G 1.1% | ||||||||||||
| FC19 | c.4278G>C | x | x | x | x | x | x | na | 1/95 | rs150021157 | |||
| p.Leu1426Phe | C/G 2.8% | ||||||||||||
| RC251 | p.Glu1229Lys | x† | x | x | x | x | x | maternal | - | - | |||
| (p.Glu1256Lys) | |||||||||||||
| RC371 | p.Glu1548Lys | x†* | x | x | x | x | x | ns | 1/228 | rs201074605 | |||
| (p.Glu1575Lys) | A/G 1.1% | ||||||||||||
| goa131 | p.Glu1548Lys | x† | x | x | x | x | x | paternal | 1/228 | rs201074605 | |||
| (p.Glu1575Lys) | A/G 1.1% | ||||||||||||
| RC151 | p.Pro1201Ser | x†* | x | x | maternal2 | - | rs114508164 | ||||||
| (p.Pro1228Ser) | no frequency data | ||||||||||||
| RC301 | Val1223Ile | x† | x | x | maternal | - | - | ||||||
| (Val1250Ile) | |||||||||||||
PCSK5 variants detected in this study and corresponding phenotypes presented together with PCSK5 variants and phenotypes reported by Szumska et al [18]. Aa-residue numbering according to UniProtKB PCSK5 accession nr Q92824 (aa-numbering used by Szumska et al. shown beneath in parentheses), GT freq. genotype frequency, - not present, na not analysed, ns not stated, *Currarino syndrome diagnosis (MNX1 status not reported), †sacral agenesis, 1patients reported by Szumska et al., 2present also in two healthy sisters with heterozygous and homozygous variants respectively.