Table 2.
Summary of detected mutations within targeted genomic loci.
| Gene/Region. | Mutation Locus | Mutant Nucleotides | Amino Acid Alteration | Chi-Squared p-Value |
|---|---|---|---|---|
| GATA6 Intron 1 | 23:34503270 | T/C | Intronic variant | 0.6834 |
| GATA6 Exon 2 | 23:34502143 | C/T | Synonymous variant | 0.7691 |
| GATA6 Exon 4 (a) | 23:34499932 | G/A | Glutamine to lysine | 0.2865 |
| GATA6 Exon 4 (b) | 23:34499918 | G/A | Arginine to tryptophan | 0.6092 |
| GATA6 Exon 6 | 23:34499639 | C/A | Alanine to Serine | 0.3074 |
| GATA6 Exon 7 | 23:34498242 | A/G | Tryptophan to glycine | 0.0015 |
| DCC Intron 2 | rs402740419 | G/A | Intronic variant | 0.4647 |
| CLRN1 Intron 3 | rs419889303 | G/A | Intronic variant | 0.1648 |
| Intergenic region between GATA6 and MIB1 genes | 23:34647527–23:34647539 | Deletion of 13 bp | Intergenic variant | 0.0880 |
| ECR nearHMX1 gene | 6:114293121–6:114293196 | Duplication of 76 bp | Intergenic variant | < 0.0001 |