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. 2015 Aug 4;10(8):e0133020. doi: 10.1371/journal.pone.0133020

Table 2. Clinical presentations and identified germline mutations of each individual.

Individual Sex Age (y) Age at onset (y) Histology Tumor stage Mutant gene MutCount/ Sequencing depth Amino acid change and origin SRA accession numbers Hom/Het
I:1 F 83 82 Lung adenocarcinoma WRN 345/738 N1370Tfs*23, Mat SRR1563024 Het
DICER1 113/255 N1112D, Mat Het
ELAC2 135/255 Y83C, Mat Het
Ⅱ:1 F 54 52 Endometrial cancer WRN 396/888 N1370Tfs*23, Mat SRR1563027 Het
ELAC2 132/255 Y83C, Mat Het
Ⅱ:2 F 52 50 Lung adenocarcinoma WRN 304/723 N1370Tfs*23, Mat SRR1563036 Het
DICER1 107/208 N1112D, Mat Het
ELAC2 140/255 Y83C, Mat Het
Ⅱ:3 F 50 No evidence of cancer ELAC2 134/255 Y83C, Mat SRR1563037 Het
Ⅱ:4 F 47 No evidence of cancer ELAC2 131/255 Y83C, Mat SRR1563039 Het
Ⅱ:5 F 45 No evidence of cancer WRN 58/148 N1370Tfs*23, Mat SRR1563041 Het
ELAC2 46/85 Y83C, Mat Het

F, female; Mat, maternal family; Hom/Het, homozygote/heterozygote; SRA, Sequence Read Archive.