| Position | Substitution | Effect | Templated | Alleles | |
| exon 1 | |||||
|---|---|---|---|---|---|
| 0 | 0del Exon 1 | CO*N.01 | |||
| 30912021 | 112 | 112C>T | P38S | CO*01N.05 | |
| 30912022 | 113 | 113C>T | P38L | CO*M.01 | |
| 30912042 | 133 | 133G>A | A45T | Co(A45T) | |
| 30912043 | 134 | 134C>T | A45V | CO*02 | |
| 30912049 | 140 | 140A>G | Q47R | CO(Q47R) | |
| 30912057 | 148 | 148G>A | Val50Met | CO(V50M) | |
| 30912141 | 232 | 232del G | CO*01N.04 | ||
| 30912216 | 307 | 307ins T | CO*N.02 | ||