Table 2 Pathogenic mutation characteristics
| Exon | Nucleotide | Amino acid | Type of Mutation | Reported previously | Classification | Population | |
|---|---|---|---|---|---|---|---|
| 1 | 8 | c.844C > T | p.R282W | missense | yes | pathogenic | Puebla |
| 2 | 5 | c.517G > A | p.V173 M | missense | yes | pathogenic | Oaxaca |
| 3 | 6 | c.604C > T | p.R202C | missense | yes | pathogenic | Morelos |
| 4 | 4 | c.291delC | p.P98Lfs*25 | frameshift | no | pathogenic | San Luis Potosí |
| 5 | 4 | c.273dupG | p.P92Afs*57 | frameshift | no | pathogenic | Morelos |