| 1 | Exon 20 | Exon 20: heterozygous Q787Q (CAG → CAA) |
| 2 | Exon 20 | Exon 20: heterozygous Q787Q (CAG → CAA) |
| 3 | Exon 20 | Exon 20: homozygous Q787Q (CAG → CAA) |
| 4 | Exon 20 | Exon 20: homozygous Q787Q (CAG → CAA) |
| 5 | Exon 19, 20 | Exon 19: del L747-P753insS; exon 20: homozygous Q787Q (CAG → CAA) |
| 6 | Exon 19 | Exon 19: del L747-P753insS; A755D |
| 7 | Exon 19, 20 | Exon 19: del L747-P753insS; exon 20: heterozygous Q787Q (CAG → CAA) |
| 8 | Exon 20, 21 | Exon 20: heterozygous Q787Q (CAG → CAA); exon 21: heterozygous R836R (CGC → CGT) |
| 9 | Exon 20 | Exon 20: homozygous Q787Q (CAG → CAA) |
| 10 | None | Normal |
| 11 | Exon 20 | Exon 20: heterozygous Q787Q (CAG → CAA) |