Research Article
Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect
Table 4
SNPs detected in this cohort of CHD patients.
| | Nucleotide change | Location | Effect | SNP
name | Cardiac defect |
| | c.655−18C>T | Intron 4 | Non | Novel | ASD | | c.−186T>C | 5′UTR | Non | rs73099190 | ASD | | c.766T>C | Exon 5 | Missense variant (F256L) | rs3999941 | ASD | | c.813+1G>A | Intron 6 | Splicing donor variant | rs3999940 | ASD | | c.890+128C>T | Intron 7 | Intron variant | rs2109090 | ASD | | c.891−55G>C | Intron 7 | Intron variant | rs111666016 | ASD | | c.925T>A | Exon 7 | Missense variant (Y309N) | rs111862418 | ASD | | c.891−30C>G | Intron 6 | Intron variant | rs113178075 | ASD | | c.1164A>G | Exon 8 | Synonymous variant (P388P) | rs2723759 | ASD | | c.1194A>C | Exon 8 | Synonymous variant (T398T) | rs2532122 | ASD | | c.1331C>T | Exon 8 | Missense variant
(T444M) | rs201217462 | ASD | | c.655−44G>A | Intron 4 | Intron variant | rs2072434 | ASD |
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ASD: atrial septal defect; UTR: untranslated region.
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