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Genetic Test Results
| Patient No. |
Mutation | Nucleotide | Amino Acid |
|---|---|---|---|
| 1 | TGFBR2 Exon 7 | c. 1583G→A | Arg528His |
| 2 | TGFBR2 Exon 7 | c. 1570G→A | Asp524Asn |
| 3 | TGFBR2 Exon 5 | c. 1318G→A | Glu440Lys |
| 4 | TGFBR2 Exon 4 | c.865–873delACAGAGAAG | Thr289_Lys291del |
| 5 | TGFBR2 IVS5–1G→A (splice-site mutation) |
