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Table 1 FOXD1 ORF sequencing in RPL, RIF, IUGR and PE patients

From: FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia

Colombian RPL patients
DNA Protein Rs Patients Controls* MAF (gnomAD)*** SIFT PolyPhen Evolutive conservation
c.263C > G p.Ala88Gly rs7705335 5/31 11/203 0.1080 Tolerate (0,52) Benign (0) Yes
c.308G > A p.Gly103Asp rs1369199745 1/31 2/203 0.0000 Tolerate (0,46) Benign (0,334) Yes
Colombian RIF patients
DNA Protein Rs Patients Controls* MAF (gnomAD)*** SIFT PolyPhen Evolutive conservation
c.263C > G p.Ala88Gly rs7705335 2/30 11/203 0,1080 Tolerate (0,99) Benign (0) Yes
c.308G > A p.Gly103Asp rs1369199745 1/30 2/203 0.0000 Tolerate (0,46) Benign (0,334) Yes
c.799C > T p.His267Tyr ___ 1/30 0/203 __ Deleterious (0,04) Possibly deleterious (0,69) Yes
c.976G > A p.Ala326Thr rs552595262 1/30 5/203 0.0000 Deleterious (0,07) Possibly deleterious (0,69) Yes
French IUGR patients
DNA Protein Rs Patients Controls** MAF (gnomAD)*** SIFT PolyPhen Evolutive conservation
c.168_170delGCG p.Arg57del rs750578392 1/39 0/361 0.0001 __ __ Yes
c.263C > G p.Ala88Gly rs7705335 4/39 31/361 0.1080 Tolerate (0,99) Benign (0) Yes
c.976G > A p.Ala326Thr rs552595262 1/39 11/361 0.0000 Deleterious (0,07) Possibly deleterious (0,69) Yes
c.1092C > G p.Ile364Met rs992724147 1/39 0/361 0.0000 Deleterious (0) Deleterious (0,99) Yes
c.1146_1158delCAGGCCGCCGCC p.Gln383_Ala387delQAAA rs771204220 4/39 18/361 0.0308 __ __ NA
French PE patients
DNA Protein Rs Patients Controls** MAF (gnomAD)*** SIFT PolyPhen Evolutive conservation
c.263C > G p.Ala88Gly rs7705335 6/31 31/361 0.1080 Tolerate (0,99) Benign (0) Yes
c.976G > A p.Ala326Thr rs552595262 2/31 11/361 0.0000 Deleterious (0,07) Possibly deleterious (0,69) Yes
French PE + IUGR patients
DNA Protein Rs Patients Controls** MAF (gnomAD)*** SIFT PolyPhen Evolutive conservation
c.263C > G p.Ala88Gly rs7705335 1/27 31/361 0.1080 Tolerate (0,99) Benign (0) Yes
c.1067C > G p.Ala356Gly rs917127030 1/27 0/361 0.0000 Deleterious (0,01) Benign (0,001) Yes
c.1187C > T p.Pro396Leu rs540644822 1/27 2/361 0,0042 Tolerate (0,2) Benign (0,1) Yes
  1. *Colombian controls, **French controls, ***gnomAD v2.1.1 (controls)
  2. Bold data are significant