Table 4 Mutations and polymorphisms identified
Case no.Abnormal meltSequence analysis
1Exon 20Exon 20: heterozygous Q787Q (CAG → CAA)
2Exon 20Exon 20: heterozygous Q787Q (CAG → CAA)
3Exon 20Exon 20: homozygous Q787Q (CAG → CAA)
4Exon 20Exon 20: homozygous Q787Q (CAG → CAA)
5Exon 19, 20Exon 19: del L747-P753insS; exon 20: homozygous Q787Q (CAG → CAA)
6Exon 19Exon 19: del L747-P753insS; A755D
7Exon 19, 20Exon 19: del L747-P753insS; exon 20: heterozygous Q787Q (CAG → CAA)
8Exon 20, 21Exon 20: heterozygous Q787Q (CAG → CAA); exon 21: heterozygous R836R (CGC → CGT)
9Exon 20Exon 20: homozygous Q787Q (CAG → CAA)
10NoneNormal
11Exon 20Exon 20: heterozygous Q787Q (CAG → CAA)