SNPs with different alleles in Danish and Brazilian EEM patients
| Exon | Nucleotide change | Amino acid change | Type of change | SNP accession number | Family #1, Denmark | Family #2, Brazil |
|---|---|---|---|---|---|---|
| Ivs-8 | Ivs8-26T→C | – | Polymorphism | rs1886697 | C/C | T/T |
| Ivs-10 | Ivs10+23A→G | – | Polymorphism | rs2281850 | G/G | A/A |
| Ex-12 | c.1626T→C | N542N | Synonymous | rs2296405 | C/C | T/T |
| c.1689G→C | Q563H | Non-synonymous | rs1126933 | C/C | G/G | |
| Ex-13 | c.1956G→A | K652K | Synonymous | rs2274239 | A/A | G/G |
| Ex-15 | c.2239C→A | R747R | Synonymous | This study | A/A | C/C |