| GRCh38.p12 | Position | Substitution | Effect | Templated | Alleles |
| 5' region | |||||
|---|---|---|---|---|---|
| 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 | ||
| IVS 1 | |||||
| Exon 2 | |||||
| 30922183 | 502 | 502G>A | A168T | CO(A168T) | |
| IVS 2 | |||||
| Exon 3 | |||||
| 30922590 | 576 | 576C>A | N192K | CO*01N.03 | |
| 30922615 | 601 | 601del G | CO*01N.06 | ||
| IVS 3 | |||||
| Exon 4 | |||||
| IVS 4 | |||||
| Exon 5 and 3' utr | |||||