Table 1. Base changes identified through DHPLC mutation screening and direct sequencing.
Exon | Change | DbSNP reference | Intronic/exonic | Positiona | No. of individuals (N=49) |
---|---|---|---|---|---|
2 | G-to-A | — | Intronic | −28 bp | 1 |
5 | C-to-G | — | Exonic | +132 bp | 1 |
9 | C-to-T | — | Intronic | +13 bp | 1 |
15 | C-to-A | rs7638391 | Intronic | +19 bp | 10 |
16 | G-to-T | — | Intronic | −14 bp | 1 |
Position is given as upstream (−) or downstream (+) of exon/intron boundary.