Gene | Chromosome | Position | Reference allele | Alternative allele | cDNA change | Protein change | gnomAD popmax |
ANGPT2 | 8 | 6385085 | T | C | NM_001147.2:c.557A>G | p.(Asp186Gly) | 0 |
CYP2C19 | 10 | 96535218 | G | C | NM_000769.2:c.403G>C | p.(Gly135Arg) | 0 |
RRP12 | 10 | 99118361 | C | T | NM_015179.1:c.3724G>A | p.(Val1242Met) | 20/30616 South Asian alleles |
LOXL4 | 10 | 100016620 | C | T | NM_032211.6:c.1345G>A | p.(Val449Met) | 14/30616 South Asian alleles |
PYROXD2 | 10 | 100154981 | T | C | NM_032709.2:c.757A>G | p.(Met253Val) | 18/30616 South Asian alleles |
SH3PXD2A | 10 | 105362591 | G | A | NM_014631.1:c.2300C>T | p.(Ser767Phe) | 9/30612 South Asian alleles |
TECTB | 10 | 114044422 | A | T | NM_058222.2:c.206A>T | p.(Tyr69Phe) | 5/30356 South Asian alleles (1 homozygote) |
Whole exome sequencing of II-1, II-2, III-2, III-4, III-5 and III-7 revealed rare, coding variants in seven candidate genes which had not previously been associated with hydrops. All variants were entered in GeneMatcher. Sequencing of III-8 had not been undertaken at that time.
Created by the authors.