AMPLICON | SSCP ANALYSIS | HRMA/SEQUENCING1 | N. OF CASES |
---|---|---|---|
EXON 1 | WT | WT | 26 |
EXON 2 | WT | WT | 23 |
 | WT | c.[64G > A]+[=] | 1 |
 | c.[64G > A]+[64G > A] | c.[64G > A]+[64G > A] | 2 |
EXON 3 | WT | WT | 26 |
EXON 4 | WT | WT | 26 |
EXON 5 | WT | WT | 26 |
EXON 6 | WT | WT | 18 |
 | c.[504+35G > A]+[=] | c.[504+35G > A]+[=] | 7 |
 | c.[481G > C]+[=] | c.[481G > C]+[=] | 1 |
EXON 7 | WT | WT | 19 |
 | c.[536A > G]+[536A > G] | c.[536A > G]+[536A > G] | 2 |
 | c.[536A > G]+[=] | c.[536A > G]+[=] | 5 |
EXON 8 | WT | WT | 26 |
EXON 9 | WT | WT | 26 |
EXON 10 | WT | WT | 26 |
EXON 11 | WT | WT | 26 |
EXON 12 | WT | WT | 16 |
 | c.[1014G > C]+[=] | c.[1014G > C]+[=] | 6 |
 | WT | c.[1014G > C]+[1014G > C] | 1 |
 | c.[1147delC]+[=] | c.[1147delC]+[=] | 1 |
 | c.[1023_1024insGA]2+[=] | c.[1023_1024insGA]2+[=] | 1 |
 | c.[1163T > C]+[=] | c.[1163T > C]+[=] | 1 |
EXON 13 | WT | WT | 19 |
 | c.[1187G > A]+[1187G > A] | c.[1187G > A]+[1187G > A] | 1 |
 | c.[1187G > A]+[=] | c.[1187G > A]+[=] | 4 |
 | c.[1227_1228dupGG]+[1227_1228dupGG] | c.[1227_1228dupGG]+[1227_1228dupGG] | 1 |
 | c.[1187-27C > T(+)1258C > A]3 | c.[1187-27C > T(+)1258C > A]3 | 1 |
EXON 14 | WT | WT | 24 |
 | c.[1437_1439delGGA]+[=] | c.[1437_1439delGGA]+[=] | 1 |
 | c.[1437_1439delGGA]+[1437_1439delGGA] | c.[1437_1439delGGA]+[1437_1439delGGA] | 1 |
EXON 15 | WT | WT | 26 |
EXON 16 | WT | WT | 26 |