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Table 1 THBD open reading frame sequencing in RPL patients and control individuals

From: THBD sequence variants potentially related to recurrent pregnancy loss

French RPL patients
DNA Protein Zygocity (n) Rs RPL Group Patients European controls (Ensembl) MAF Allelic Frequency (cases) Allelic Frequency (controls) P value SIFT PolyPhen Evolutive conservation
   c.1418 C > T p.Ala473Val Homozygote (3) rs1042579 G1: 65,6% 32/233 173/503 0.16 C: 0,92 T: 0,08 C: 0,80 T: 0,20 0,02 Tolerated (0,42) Bening (0) Yes
Heterozygote (29) G2: 25%
  G3: 9,4%
Colombian RPL patients
DNA Protein Zygocity (n) Rs RPL Group Patients Colombian Controls MAF Allelic Frequency (cases) Allelic Frequency (controls) P value SIFT PolyPhen Evolutive conservation
   c. 457 T > G p.Trp153Gly Homozygote (3)   G1: 50% 4/29 0/165   T: 0,88 G: 0,12 T: 1 G: 0 0,000009 Deleterious (0) Probably damaging (0.976) Yes
Heterozygote (1) G3: 25%
  G4: 25%
   c.1418 C > T p.Ala473Val Heterozygote (4) rs1042579 G1: 50% 4/29 51/165 0.16 C: 0,93 T: 0,07 C: 0,95 T: 0,05 0,73 Tolerated (0,42) Bening (0) Yes
G2: 25%
G4: 25%