Observed data

Table of values

All observations, with the provenance of every value. CSV downloads use English labels and notes; identifiers and numerical data are unchanged.

Current dataset version: 187 embryo heteroplasmy values. Initial frozen version 2026-10-10: 187 values. Changes since the initial version: Tofilo et al. 2026: embryo 6 values (ICM, remaining TE) and the fraction category of embryos 3 and 4 follow the published ESM 2 (curation/corrections.yaml). The median range for pathogenic blastocysts was recalculated. Stable record identifiers introduced (HL-, EC-, CL-); former row-based identifiers are kept as aliases. (see Methods).

Embryos (Between different embryos)

n = 187

IDmtDNA variantValueSourceDOIPMIDAtlas source worksheet, row Source locationStageSample typeHow the value was obtained
HL-heindryckx2014-001m.3243A>Gnot detectedHeindryckx et al., 201410.1016/j.mito.2014.08.005251591284Table 1; embryo / sample: 3 / 11 (identity within ND records unresolved)BlastocystTE biopsy sampleMean of several biopsy measurements
HL-heindryckx2014-002m.3243A>G40.3%Heindryckx et al., 201410.1016/j.mito.2014.08.005251591285Table 1; embryo / sample: 1BlastocystTE biopsy sampleMean of several biopsy measurements
HL-heindryckx2014-003m.3243A>G28.2%Heindryckx et al., 201410.1016/j.mito.2014.08.005251591286Table 1; embryo / sample: 2BlastocystTE biopsy sampleMean of several biopsy measurements
HL-heindryckx2014-004m.3243A>Gnot detectedHeindryckx et al., 201410.1016/j.mito.2014.08.005251591287Table 1; embryo / sample: 3 / 11 (identity within ND records unresolved)BlastocystTE biopsy sampleMean of several biopsy measurements
HL-heindryckx2014-005m.3243A>G15.3%Heindryckx et al., 201410.1016/j.mito.2014.08.005251591288Table 1; embryo / sample: 4BlastocystTE biopsy sampleMean of several biopsy measurements
HL-heindryckx2014-006m.3243A>G62%Heindryckx et al., 201410.1016/j.mito.2014.08.005251591289Table 1; embryo / sample: 5BlastocystTE biopsy sampleMean of several biopsy measurements
HL-heindryckx2014-007m.3243A>G11.4%Heindryckx et al., 201410.1016/j.mito.2014.08.0052515912810Table 1; embryo / sample: 6BlastocystTE biopsy sampleMean of several biopsy measurements
HL-heindryckx2014-008m.3243A>G27.8%Heindryckx et al., 201410.1016/j.mito.2014.08.0052515912811Table 1; embryo / sample: 7BlastocystTE biopsy sampleMean of several biopsy measurements
HL-heindryckx2014-009m.3243A>G8.4%Heindryckx et al., 201410.1016/j.mito.2014.08.0052515912812Table 1; embryo / sample: 8BlastocystTE biopsy sampleMean of several biopsy measurements
HL-heindryckx2014-010m.3243A>G12.3%Heindryckx et al., 201410.1016/j.mito.2014.08.0052515912813Table 1; embryo / sample: 9BlastocystTE biopsy sampleMean of several biopsy measurements
HL-heindryckx2014-011m.3243A>G11.3%Heindryckx et al., 201410.1016/j.mito.2014.08.0052515912814Table 1; embryo / sample: 10BlastocystTE biopsy sampleMean of several biopsy measurements
HL-hyslop2025-001m.3243A>Gnot detected (limit of detection: 3%)Hyslop et al., 202510.1056/NEJMoa24155394067369615Table 1, PGT; Hyslop 2025, Table 1, footnote: below 3%Developmental stage not specifiedBlastomere(s)Derivation not recorded
HL-hyslop2025-002m.3243A>Gnot detected (limit of detection: 3%)Hyslop et al., 202510.1056/NEJMoa24155394067369616Table 1, PGT; Hyslop 2025, Table 1, footnote: below 3%Developmental stage not specifiedBlastomere(s)Derivation not recorded
HL-monnot2011-001m.3243A>Gnot detected (limit of detection: 2%)Monnot et al., 201110.1002/humu.214172112093817Table 3; Monnot 2011, Results, Analysis in Day 3 to Day 5 Embryos, p. 118; Table 3, footnote a: detection threshold: 2%; embryo / sample: patient 2 embryos 1–6Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-002m.3243A>Gnot detected (limit of detection: 2%)Monnot et al., 201110.1002/humu.214172112093818Table 3; Monnot 2011, Results, Analysis in Day 3 to Day 5 Embryos, p. 118; Table 3, footnote a: detection threshold: 2%; embryo / sample: patient 2 embryos 1–6Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-003m.3243A>Gnot detected (limit of detection: 2%)Monnot et al., 201110.1002/humu.214172112093819Table 3; Monnot 2011, Results, Analysis in Day 3 to Day 5 Embryos, p. 118; Table 3, footnote a: detection threshold: 2%; embryo / sample: patient 2 embryos 1–6Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-004m.3243A>Gnot detected (limit of detection: 2%)Monnot et al., 201110.1002/humu.214172112093820Table 3; Monnot 2011, Results, Analysis in Day 3 to Day 5 Embryos, p. 118; Table 3, footnote a: detection threshold: 2%; embryo / sample: patient 2 embryos 1–6Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-005m.3243A>Gnot detected (limit of detection: 2%)Monnot et al., 201110.1002/humu.214172112093821Table 3; Monnot 2011, Results, Analysis in Day 3 to Day 5 Embryos, p. 118; Table 3, footnote a: detection threshold: 2%; embryo / sample: patient 2 embryos 1–6Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-006m.3243A>Gnot detected (limit of detection: 2%)Monnot et al., 201110.1002/humu.214172112093822Table 3; Monnot 2011, Results, Analysis in Day 3 to Day 5 Embryos, p. 118; Table 3, footnote a: detection threshold: 2%; embryo / sample: patient 2 embryos 1–6Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-spath2021-001m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572523Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedHalf embryoMean of two embryo halves
HL-spath2021-002m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572524Supplemental Table 3; p. 1526, Results of Clinical Application; Spath 2021, Results of Clinical Application, p. 1526, Results of Clinical Application; Supplemental Table 3; Supplemental Table 3BlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-003m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572525Supplemental Table 3; p. 1526, Results of Clinical Application; Spath 2021, Results of Clinical Application, p. 1526, Results of Clinical Application; Supplemental Table 3; Supplemental Table 3BlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-004m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572526Supplemental Table 3; p. 1526, Results of Clinical Application; Spath 2021, Results of Clinical Application, p. 1526, Results of Clinical Application; Supplemental Table 3; Supplemental Table 3BlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-005m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572527Supplemental Table 3; p. 1526, Results of Clinical Application; Spath 2021, Results of Clinical Application, p. 1526, Results of Clinical Application; Supplemental Table 3; Supplemental Table 3BlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-006m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572528Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedHalf embryoMean of two embryo halves
HL-spath2021-007m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572529Supplemental Table 3; p. 1526, Results of Clinical Application; Spath 2021, Results of Clinical Application, p. 1526, Results of Clinical Application; Supplemental Table 3; Supplemental Table 3BlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-008m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572530Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedHalf embryoMean of two embryo halves
HL-spath2021-009m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572531Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedHalf embryoMean of two embryo halves
HL-spath2021-010m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572532Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedHalf embryoMean of two embryo halves
HL-spath2021-011m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572533Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedWhole embryoDerivation not recorded
HL-spath2021-012m.3243A>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.0263374572534Supplemental Table 3; p. 1526, Results of Clinical Application; Spath 2021, Results of Clinical Application, p. 1526, Results of Clinical Application; Supplemental Table 3; Supplemental Table 3BlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-013m.3243A>G3.1%Spath et al., 202110.1016/j.fertnstert.2021.01.0263374572535Supplemental Table 3; p. 1526, Results of Clinical Application; Spath 2021, Results of Clinical Application, p. 1526, Results of Clinical Application; Supplemental Table 3; Supplemental Table 3; embryo / sample: D9BlastocystTE biopsy sampleDerivation not recorded
HL-monnot2011-007m.3243A>G5%Monnot et al., 201110.1002/humu.214172112093836Table 3; embryo / sample: patient 2 embryo 7Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-spath2021-014m.3243A>G5.7%Spath et al., 202110.1016/j.fertnstert.2021.01.0263374572537Supplemental Table 3; p. 1526, Results of Clinical Application; embryo / sample: D19 (mean halves 4.6/6.8)Developmental stage not specifiedHalf embryoMean of two embryo halves
HL-treff2012-001m.3243A>G7%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107538Table 1; embryo / sample: cleavage sample 1Cleavage stageBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-008m.3243A>G7.5%Monnot et al., 201110.1002/humu.214172112093839Table 3; embryo / sample: patient 2 embryo 8Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-spath2021-015m.3243A>G11.5%Spath et al., 202110.1016/j.fertnstert.2021.01.0263374572540Supplemental Table 3; p. 1526, Results of Clinical Application; Spath 2021, Results of Clinical Application, p. 1526, Results of Clinical Application; Supplemental Table 3; Supplemental Table 3; embryo / sample: D3BlastocystTE biopsy sampleDerivation not recorded
HL-treff2012-002m.3243A>G12%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107541Table 1; embryo / sample: blastocyst sample 8BlastocystMultiple TE and ICM biopsy samples (mean)Derivation not recorded
HL-monnot2011-009m.3243A>G13%Monnot et al., 201110.1002/humu.214172112093842Table 3; embryo / sample: patient 2 embryo 9Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-010m.3243A>G14%Monnot et al., 201110.1002/humu.214172112093843Table 3; Monnot 2011, Table 3, patient 2, embryo 10: blastomeres 13/13%, TE 15%; embryo / sample: patient 2 embryo 10Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Mean of blastomere and TE measurements
HL-monnot2011-011m.3243A>G14.5%Monnot et al., 201110.1002/humu.214172112093844Table 3; embryo / sample: patient 2 embryo 11Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-012m.3243A>G15%Monnot et al., 201110.1002/humu.214172112093845Table 3; embryo / sample: patient 2 embryo 12Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-013m.3243A>G16%Monnot et al., 201110.1002/humu.214172112093846Table 3; embryo / sample: patient 2 embryo 13Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-014m.3243A>G18%Monnot et al., 201110.1002/humu.214172112093848Table 3; embryo / sample: patient 1 embryo 1Cleavage stageMultiple blastomeresDerivation not recorded
HL-monnot2011-015m.3243A>G23%Monnot et al., 201110.1002/humu.214172112093849Table 3; embryo / sample: patient 1 embryo 2 / patient 2 embryos 14–15Cleavage stageMultiple blastomeresDerivation not recorded
HL-monnot2011-016m.3243A>G23%Monnot et al., 201110.1002/humu.214172112093850Table 3; embryo / sample: patient 1 embryo 2 / patient 2 embryos 14–15Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-017m.3243A>G23%Monnot et al., 201110.1002/humu.214172112093851Table 3; embryo / sample: patient 1 embryo 2 / patient 2 embryos 14–15Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-treff2012-003m.3243A>G24%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107552Table 1; embryo / sample: blastocyst sample 1BlastocystMultiple TE and ICM biopsy samples (mean)Derivation not recorded
HL-treff2012-004m.3243A>G24%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107553Table 1; embryo / sample: cleavage sample 6Cleavage stageBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-treff2012-005m.3243A>G25%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107554Table 1; embryo / sample: cleavage sample 5Cleavage stageBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-018m.3243A>G28%Monnot et al., 201110.1002/humu.214172112093855Table 3; embryo / sample: patient 2 embryo 16Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-spath2021-016m.3243A>G29.2%Spath et al., 202110.1016/j.fertnstert.2021.01.0263374572556Supplemental Table 3; p. 1526, Results of Clinical Application; Spath 2021, Results of Clinical Application, p. 1526, Results of Clinical Application; Supplemental Table 3; Supplemental Table 3; embryo / sample: D1BlastocystTE biopsy sampleDerivation not recorded
HL-monnot2011-019m.3243A>G30%Monnot et al., 201110.1002/humu.214172112093857Table 3; embryo / sample: patient 2 embryo 17Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-spath2021-017m.3243A>G36.3%Spath et al., 202110.1016/j.fertnstert.2021.01.0263374572558Supplemental Table 3; p. 1526, Results of Clinical Application; embryo / sample: D2 (mean halves 37.0/35.6)Developmental stage not specifiedHalf embryoMean of two embryo halves
HL-monnot2011-020m.3243A>G37%Monnot et al., 201110.1002/humu.214172112093859Table 3; embryo / sample: patient 2 embryo 18Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-spath2021-018m.3243A>G37%Spath et al., 202110.1016/j.fertnstert.2021.01.0263374572560Supplemental Table 3; p. 1526, Results of Clinical Application; embryo / sample: D8 (mean halves 37.1/36.9)Developmental stage not specifiedHalf embryoMean of two embryo halves
HL-spath2021-019m.3243A>G38%Spath et al., 202110.1016/j.fertnstert.2021.01.0263374572561Supplemental Table 3; p. 1526, Results of Clinical Application; embryo / sample: D17 (mean halves 39.6/36.4)Developmental stage not specifiedHalf embryoMean of two embryo halves
HL-treff2012-006m.3243A>G38%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107562Table 1; embryo / sample: blastocyst sample 6BlastocystMultiple TE and ICM biopsy samples (mean)Derivation not recorded
HL-monnot2011-021m.3243A>G42%Monnot et al., 201110.1002/humu.214172112093863Table 3; embryo / sample: patient 2 embryos 19–20Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-022m.3243A>G42%Monnot et al., 201110.1002/humu.214172112093864Table 3; embryo / sample: patient 2 embryos 19–20Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-023m.3243A>G43%Monnot et al., 201110.1002/humu.214172112093865Table 3; embryo / sample: patient 2 embryo 21Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-024m.3243A>G47%Monnot et al., 201110.1002/humu.214172112093866Table 3; embryo / sample: patient 2 embryo 22Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-025m.3243A>G48%Monnot et al., 201110.1002/humu.214172112093867Table 3; embryo / sample: patient 2 embryo 23Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-026m.3243A>G50%Monnot et al., 201110.1002/humu.214172112093868Table 3; embryo / sample: patient 1 embryo 3 / patient 2 embryos 24–27Cleavage stageMultiple blastomeresDerivation not recorded
HL-monnot2011-027m.3243A>G50%Monnot et al., 201110.1002/humu.214172112093869Table 3; embryo / sample: patient 1 embryo 3 / patient 2 embryos 24–27Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-028m.3243A>G50%Monnot et al., 201110.1002/humu.214172112093870Table 3; embryo / sample: patient 1 embryo 3 / patient 2 embryos 24–27Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-029m.3243A>G50%Monnot et al., 201110.1002/humu.214172112093871Table 3; embryo / sample: patient 1 embryo 3 / patient 2 embryos 24–27Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-030m.3243A>G50%Monnot et al., 201110.1002/humu.214172112093872Table 3; embryo / sample: patient 1 embryo 3 / patient 2 embryos 24–27Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-treff2012-007m.3243A>G52%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107573Table 1; embryo / sample: cleavage sample 4Cleavage stageBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-031m.3243A>G55%Monnot et al., 201110.1002/humu.214172112093874Table 3; embryo / sample: patient 2 embryo 28Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-032m.3243A>G60%Monnot et al., 201110.1002/humu.214172112093875Table 3; embryo / sample: patient 2 embryo 29Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-treff2012-008m.3243A>G61%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107576Table 1; embryo / sample: morula sample 1MorulaWhole embryoDerivation not recorded
HL-monnot2011-033m.3243A>G62%Monnot et al., 201110.1002/humu.214172112093877Table 3; embryo / sample: patient 2 embryo 30Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-034m.3243A>G63%Monnot et al., 201110.1002/humu.214172112093878Table 3; embryo / sample: patient 2 embryo 31Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-035m.3243A>G66%Monnot et al., 201110.1002/humu.214172112093879Table 3; embryo / sample: patient 2 embryo 32Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-treff2012-009m.3243A>G71%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107580Table 1; embryo / sample: cleavage sample 3Cleavage stageBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-036m.3243A>G74%Monnot et al., 201110.1002/humu.214172112093881Table 3; embryo / sample: patient 2 embryo 33Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-treff2012-010m.3243A>G74%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107582Table 1; embryo / sample: blastocyst sample 7BlastocystMultiple TE and ICM biopsy samples (mean)Derivation not recorded
HL-monnot2011-037m.3243A>G74.5%Monnot et al., 201110.1002/humu.214172112093883Table 3; embryo / sample: patient 2 embryo 34Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-monnot2011-038m.3243A>G75%Monnot et al., 201110.1002/humu.214172112093884Table 3; embryo / sample: patient 2 embryo 35Developmental stage not specifiedBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-treff2012-011m.3243A>G81%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107585Table 1; embryo / sample: blastocyst sample 2BlastocystMultiple TE and ICM biopsy samples (mean)Derivation not recorded
HL-treff2012-012m.3243A>G82%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107586Table 1; embryo / sample: blastocyst sample 5BlastocystMultiple TE and ICM biopsy samples (mean)Derivation not recorded
HL-treff2012-013m.3243A>G86%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107587Table 1; embryo / sample: cleavage sample 2Cleavage stageBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-treff2012-014m.3243A>G89%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107588Table 1; embryo / sample: blastocyst sample 4BlastocystMultiple TE and ICM biopsy samples (mean)Derivation not recorded
HL-treff2012-015m.3243A>G90%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107589Table 1; embryo / sample: blastocyst sample 3BlastocystMultiple TE and ICM biopsy samples (mean)Derivation not recorded
HL-treff2012-016m.3243A>G91%Treff et al., 201210.1016/j.fertnstert.2012.07.11192292107590Table 1; embryo / sample: morula sample 2MorulaWhole embryoDerivation not recorded
HL-ji2021-001m.3697G>A15.2%Ji et al., 202110.1007/s10815-021-02354-33480214191Table 3; Ji 2021, Table 3, TE-biopsy column; embryo / sample: 2.11BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-002m.3697G>A23.5%Ji et al., 202110.1007/s10815-021-02354-33480214192Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 1.10Arrested / degenerating embryoBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-ji2021-003m.3697G>A29.4%Ji et al., 202110.1007/s10815-021-02354-33480214193Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 1.6BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-004m.3697G>A31.7%Ji et al., 202110.1007/s10815-021-02354-33480214194Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 1.2BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-005m.3697G>A34.3%Ji et al., 202110.1007/s10815-021-02354-33480214195Table 3; Ji 2021, Table 3, TE-biopsy column; embryo / sample: 2.4BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-006m.3697G>A36.48%Ji et al., 202110.1007/s10815-021-02354-33480214196Table 3; Ji 2021, Table 3, sample 2.3 (1PN), six blastomeres; embryo / sample: 2.3 (mean of six blastomeres)Arrested / degenerating embryoMultiple blastomeresDerivation not recorded
HL-ji2021-008m.3697G>A46.7%Ji et al., 202110.1007/s10815-021-02354-33480214198Table 3; Ji 2021, Table 3, TE-biopsy column; embryo / sample: 2.6BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-009m.3697G>A47.3%Ji et al., 202110.1007/s10815-021-02354-33480214199Table 3; Ji 2021, Table 3, TE-biopsy column; embryo / sample: 2.7BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-010m.3697G>A53.9%Ji et al., 202110.1007/s10815-021-02354-334802141100Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 2.1BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-011m.3697G>A58.9%Ji et al., 202110.1007/s10815-021-02354-334802141101Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 1.7Arrested / degenerating embryoBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-ji2021-012m.3697G>A67%Ji et al., 202110.1007/s10815-021-02354-334802141102Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 2.2BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-013m.3697G>A70.9%Ji et al., 202110.1007/s10815-021-02354-334802141103Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 1.1BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-014m.3697G>A85.3%Ji et al., 202110.1007/s10815-021-02354-334802141104Table 3; Ji 2021, Table 3, TE-biopsy column; embryo / sample: 2.8BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-015m.3697G>A98.7%Ji et al., 202110.1007/s10815-021-02354-334802141105Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 1.4BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-016m.3697G>A99%Ji et al., 202110.1007/s10815-021-02354-334802141106Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 1.5BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-017m.3697G>A99.3%Ji et al., 202110.1007/s10815-021-02354-334802141107Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 1.8Arrested / degenerating embryoBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-ji2021-018m.3697G>A99.4%Ji et al., 202110.1007/s10815-021-02354-334802141108Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 1.11BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-019m.3697G>A99.7%Ji et al., 202110.1007/s10815-021-02354-334802141109Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 1.3BlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-020m.3697G>A100%Ji et al., 202110.1007/s10815-021-02354-334802141110Table 3; Ji 2021, Table 3, TE-biopsy column; embryo / sample: 2.9 (six blastomeres) / 2.10 (TE); identity within equal values unresolvedBlastocystTE biopsy sampleDerivation not recorded
HL-ji2021-021m.3697G>A100%Ji et al., 202110.1007/s10815-021-02354-334802141111Table 3; Ji 2021, clinical case description pp. 3252–3253 and Table 3, one woman/two cycles; embryo / sample: 2.9 (six blastomeres) / 2.10 (TE); identity within equal values unresolvedCleavage stageMultiple blastomeresDerivation not recorded
HL-sallevelt2017-001m.14487T>C5.75%Sallevelt et al., 201710.1093/humrep/dew35628122886112Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 1Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-002m.14487T>C8%Sallevelt et al., 201710.1093/humrep/dew35628122886113Fig. 2 / Supplementary Table SI; Sallevelt 2017, Fig. 2; Supplementary Table SI, cycle 2 embryo 13 (3PN); embryo / sample: cycle 2 embryo 13 (3PN)Cleavage stageMultiple blastomeresDerivation not recorded
HL-tofilo2026-001m.14487T>C11.4%Tofilo et al., 202610.1007/s10815-026-04012-y42649365114ESM 2, Supplementary Table S2; Tofilo 2026, main text, clinical case and Results, six blastocysts from one carrier; embryo / sample: 1BlastocystTE biopsy sampleDerivation not recorded
HL-tofilo2026-002m.14487T>C12%Tofilo et al., 202610.1007/s10815-026-04012-y42649365115ESM 2, Supplementary Table S2; Tofilo 2026, main text, clinical case and Results, six blastocysts from one carrier; embryo / sample: 3BlastocystTE biopsy sampleDerivation not recorded
HL-sallevelt2017-003m.14487T>C12.25%Sallevelt et al., 201710.1093/humrep/dew35628122886116Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 7Cleavage stageSingle blastomeresMean of two blastomeres
HL-tofilo2026-003m.14487T>C13.5%Tofilo et al., 202610.1007/s10815-026-04012-y42649365117ESM 2, Supplementary Table S2; Tofilo 2026, main text, clinical case and Results, six blastocysts from one carrier; embryo / sample: 6BlastocystTE biopsy sampleDerivation not recorded
HL-sallevelt2017-004m.14487T>C21.1%Sallevelt et al., 201710.1093/humrep/dew35628122886118Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 9Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-005m.14487T>C21.4%Sallevelt et al., 201710.1093/humrep/dew35628122886119Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 11Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-006m.14487T>C43.6%Sallevelt et al., 201710.1093/humrep/dew35628122886120Fig. 2 / Supplementary Table SI; Sallevelt 2017, Fig. 2 / Supplementary Table SI; 3PN embryo (Atlas ID HL-sallevelt2017-006); embryo / sample: cycle 2 embryo 14 (3PN)Cleavage stageMultiple blastomeresDerivation not recorded
HL-sallevelt2017-007m.14487T>C51.3%Sallevelt et al., 201710.1093/humrep/dew35628122886121Fig. 2 / Supplementary Table SI; embryo / sample: cycle 1 embryo 4Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-008m.14487T>C56.75%Sallevelt et al., 201710.1093/humrep/dew35628122886122Fig. 2 / Supplementary Table SI; embryo / sample: cycle 1 embryo 8Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-009m.14487T>C59.4%Sallevelt et al., 201710.1093/humrep/dew35628122886123Fig. 2 / Supplementary Table SI; embryo / sample: cycle 1 embryo 7Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-010m.14487T>C62.5%Sallevelt et al., 201710.1093/humrep/dew35628122886124Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 10Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-011m.14487T>C64.35%Sallevelt et al., 201710.1093/humrep/dew35628122886125Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 6Cleavage stageSingle blastomeresMean of two blastomeres
HL-tofilo2026-004m.14487T>C73.2%Tofilo et al., 202610.1007/s10815-026-04012-y42649365126ESM 2, Supplementary Table S2; Tofilo 2026, main text, clinical case and Results, six blastocysts from one carrier; embryo / sample: 5BlastocystTE biopsy sampleDerivation not recorded
HL-sallevelt2017-012m.14487T>C79.3%Sallevelt et al., 201710.1093/humrep/dew35628122886127Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 2Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-013m.14487T>C88.2%Sallevelt et al., 201710.1093/humrep/dew35628122886128Fig. 2 / Supplementary Table SI; embryo / sample: cycle 1 embryo 5Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-014m.14487T>C90.1%Sallevelt et al., 201710.1093/humrep/dew35628122886129Fig. 2 / Supplementary Table SI; embryo / sample: cycle 1 embryo 3Cleavage stageSingle blastomeresMean of two blastomeres
HL-tofilo2026-005m.14487T>C92.3%Tofilo et al., 202610.1007/s10815-026-04012-y42649365130ESM 2, Supplementary Table S2; Tofilo 2026, main text, clinical case and Results, six blastocysts from one carrier; embryo / sample: 4BlastocystTE biopsy sampleDerivation not recorded
HL-sallevelt2017-015m.14487T>C93.2%Sallevelt et al., 201710.1093/humrep/dew35628122886131Fig. 2 / Supplementary Table SI; embryo / sample: cycle 1 embryo 6Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-016m.14487T>C95.45%Sallevelt et al., 201710.1093/humrep/dew35628122886132Fig. 2 / Supplementary Table SI; embryo / sample: cycle 1 embryo 2Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-017m.14487T>C96.4%Sallevelt et al., 201710.1093/humrep/dew35628122886133Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 4Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-018m.14487T>C96.45%Sallevelt et al., 201710.1093/humrep/dew35628122886134Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 3Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-019m.14487T>C97.7%Sallevelt et al., 201710.1093/humrep/dew35628122886135Fig. 2 / Supplementary Table SI; embryo / sample: cycle 1 embryo 1Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-020m.14487T>C98.35%Sallevelt et al., 201710.1093/humrep/dew35628122886136Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 5Cleavage stageSingle blastomeresMean of two blastomeres
HL-sallevelt2017-021m.14487T>C98.4%Sallevelt et al., 201710.1093/humrep/dew35628122886137Fig. 2 / Supplementary Table SI; embryo / sample: cycle 2 embryo 8Cleavage stageSingle blastomeresMean of two blastomeres
HL-tofilo2026-006m.14487T>C99.6%Tofilo et al., 202610.1007/s10815-026-04012-y42649365138ESM 2, Supplementary Table S2; Tofilo 2026, main text, clinical case and Results, six blastocysts from one carrier; embryo / sample: 2BlastocystTE biopsy sampleDerivation not recorded
HL-sallevelt2017-022m.14487T>C100%Sallevelt et al., 201710.1093/humrep/dew35628122886139Fig. 2 / Supplementary Table SI; Sallevelt 2017, Fig. 2 / Supplementary Table SI; 3PN embryo (Atlas ID HL-sallevelt2017-022); embryo / sample: cycle 2 embryo 12 (3PN)Cleavage stageMultiple blastomeresDerivation not recorded
HL-mizuguchi2025-001m.10197G>A1%Mizuguchi et al., 202510.1038/s41439-025-00311-540164591140Fig. 2ABlastocystTE biopsy sampleValue digitised from a published figure
HL-mizuguchi2025-002m.10197G>A2%Mizuguchi et al., 202510.1038/s41439-025-00311-540164591141Fig. 2ABlastocystTE biopsy sampleValue digitised from a published figure
HL-mizuguchi2025-003m.10197G>A2%Mizuguchi et al., 202510.1038/s41439-025-00311-540164591142Fig. 2ABlastocystTE biopsy sampleValue digitised from a published figure
HL-mizuguchi2025-004m.10197G>A5%Mizuguchi et al., 202510.1038/s41439-025-00311-540164591143Fig. 2ABlastocystTE biopsy sampleValue digitised from a published figure
HL-mizuguchi2025-005m.10197G>A5%Mizuguchi et al., 202510.1038/s41439-025-00311-540164591144Fig. 2ABlastocystTE biopsy sampleValue digitised from a published figure
HL-mizuguchi2025-006m.10197G>Apublished interval only: 26–45%Mizuguchi et al., 202510.1038/s41439-025-00311-540164591145Fig. 2ABlastocystTE biopsy sampleValue digitised from a published figure
HL-mizuguchi2025-007m.10197G>Apublished interval only: 84–88%Mizuguchi et al., 202510.1038/s41439-025-00311-540164591146Fig. 2ABlastocystTE biopsy sampleValue digitised from a published figure
HL-mizuguchi2025-008m.10197G>A96%Mizuguchi et al., 202510.1038/s41439-025-00311-540164591147Fig. 2ABlastocystTE biopsy sampleValue digitised from a published figure
HL-mizuguchi2025-009m.10197G>A96.5%Mizuguchi et al., 202510.1038/s41439-025-00311-540164591148Fig. 2ABlastocystTE biopsy sampleValue digitised from a published figure
HL-spath2021-020m.10191T>Cnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725149Supplemental Table 3; p. 1526, Results of Clinical ApplicationCleavage stageMultiple blastomeresDerivation not recorded
HL-spath2021-021m.10191T>Cnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725150Supplemental Table 3; p. 1526, Results of Clinical ApplicationCleavage stageMultiple blastomeresDerivation not recorded
HL-spath2021-022m.10191T>Cnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725151Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedWhole embryoDerivation not recorded
HL-spath2021-023m.10191T>Cnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725152Supplemental Table 3; p. 1526, Results of Clinical ApplicationCleavage stageMultiple blastomeresDerivation not recorded
HL-spath2021-024m.10191T>Cnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725153Supplemental Table 3; p. 1526, Results of Clinical ApplicationCleavage stageMultiple blastomeresDerivation not recorded
HL-spath2021-025m.10191T>Cnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725154Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedWhole embryoDerivation not recorded
HL-spath2021-026m.10191T>Cnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725155Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedWhole embryoDerivation not recorded
HL-spath2021-027m.10191T>Cnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725156Supplemental Table 3; p. 1526, Results of Clinical ApplicationCleavage stageMultiple blastomeresDerivation not recorded
HL-hyslop2025-004m.8993T>Gnot detected (limit of detection: 3%)Hyslop et al., 202510.1056/NEJMoa241553940673696157Table 1, PGT; Hyslop 2025, Table 1, footnote: below 3%Developmental stage not specifiedBlastomere(s)Derivation not recorded
HL-hyslop2025-005m.8993T>Gnot detected (limit of detection: 3%)Hyslop et al., 202510.1056/NEJMoa241553940673696158Table 1, PGT; Hyslop 2025, Table 1, footnote: below 3%Developmental stage not specifiedBlastomere(s)Derivation not recorded
HL-spath2021-028m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725159Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-029m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725160Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedWhole embryoDerivation not recorded
HL-spath2021-030m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725161Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-031m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725162Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-032m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725163Supplemental Table 3; p. 1526, Results of Clinical ApplicationCleavage stageMultiple blastomeresDerivation not recorded
HL-spath2021-033m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725164Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-034m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725165Supplemental Table 3; p. 1526, Results of Clinical ApplicationCleavage stageMultiple blastomeresDerivation not recorded
HL-spath2021-035m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725166Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedWhole embryoDerivation not recorded
HL-spath2021-036m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725167Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-037m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725168Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-038m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725169Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-039m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725170Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-040m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725171Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-041m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725172Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-042m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725173Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-043m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725174Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-044m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725175Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-045m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725176Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-spath2021-046m.8993T>Gnot detectedSpath et al., 202110.1016/j.fertnstert.2021.01.02633745725177Supplemental Table 3; p. 1526, Results of Clinical ApplicationBlastocystTE biopsy sampleDerivation not recorded
HL-steffann2006-001m.8993T>Gnot detectedSteffann et al., 200610.1136/jmg.2005.03232616155197178Table 1 / Fig. 1Cleavage stageMultiple blastomeresDerivation not recorded
HL-steffann2006-002m.8993T>Gnot detectedSteffann et al., 200610.1136/jmg.2005.03232616155197179Table 1 / Fig. 1Cleavage stageMultiple blastomeresDerivation not recorded
HL-thorburn2009-001m.8993T>G2.5%Thorburn et al., 2009——180Conference abstract; values via Castelluccio 2025 / Smeets 2023 (primary full text unavailable)Cleavage stageBlastomere(s)Value obtained from reviews (primary source: abstract)
HL-spath2021-047m.8993T>G88.7%Spath et al., 202110.1016/j.fertnstert.2021.01.02633745725181Supplemental Table 3; p. 1526, Results of Clinical ApplicationDevelopmental stage not specifiedWhole embryoDerivation not recorded
HL-steffann2006-003m.8993T>G94%Steffann et al., 200610.1136/jmg.2005.03232616155197182Table 1 / Fig. 1Cleavage stageBlastomeres and/or whole embryo (not specified)Derivation not recorded
HL-hu2026-001m.3250T>C17.8%Hu et al., 202610.1007/s10815-026-04041-742821212183Supplementary Table S1; Hu 2026, clinical case description and embryo-results table, single carrierBlastocystTE biopsy sampleDerivation not recorded
HL-hu2026-002m.3250T>Cnot detected (limit of detection: 1%)Hu et al., 202610.1007/s10815-026-04041-742821212184Supplementary Table S1; Hu 2026, clinical case description and embryo-results table, single carrierArrested / degenerating embryoWhole embryoDerivation not recorded
HL-hu2026-003m.3250T>Cnot detected (limit of detection: 1%)Hu et al., 202610.1007/s10815-026-04041-742821212185Supplementary Table S1; Hu 2026, clinical case description and embryo-results table, single carrierBlastocystTE biopsy sampleDerivation not recorded
HL-hu2026-004m.3250T>Cnot detected (limit of detection: 1%)Hu et al., 202610.1007/s10815-026-04041-742821212186Supplementary Table S1; Hu 2026, clinical case description and embryo-results table, single carrierBlastocystTE biopsy sampleDerivation not recorded
HL-hu2026-005m.3250T>Cnot detected (limit of detection: 1%)Hu et al., 202610.1007/s10815-026-04041-742821212187Supplementary Table S1; Hu 2026, clinical case description and embryo-results table, single carrierBlastocystTE biopsy sampleDerivation not recorded
HL-hu2026-006m.3250T>C1.8%Hu et al., 202610.1007/s10815-026-04041-742821212188Supplementary Table S1; Hu 2026, clinical case description and embryo-results table, single carrierBlastocystTE biopsy sampleDerivation not recorded
HL-hu2026-007m.3250T>Cnot detected (limit of detection: 1%)Hu et al., 202610.1007/s10815-026-04041-742821212189Supplementary Table S1; Hu 2026, clinical case description and embryo-results table, single carrierArrested / degenerating embryoWhole embryoDerivation not recorded
HL-hu2026-008m.3250T>C8.1%Hu et al., 202610.1007/s10815-026-04041-742821212190Supplementary Table S1; Hu 2026, clinical case description and embryo-results table, single carrierBlastocystTE biopsy sampleDerivation not recorded
HL-hyslop2025-006m.3243A>G9%Hyslop et al., 202510.1056/NEJMoa24155394067369647Table 1, PGT; Hyslop 2025, Table 1, m.3243A>G row: 9 and 24; footnote ‖Developmental stage not specifiedBlastomere(s)Derivation not recorded
HL-hyslop2025-007m.3243A>G24%Hyslop et al., 202510.1056/NEJMoa24155394067369647Table 1, PGT; Hyslop 2025, Table 1, m.3243A>G row: 9 and 24; footnote ‖Developmental stage not specifiedBlastomere(s)Derivation not recorded

Database tables (CSV)