AMPLICON | GENOTYPES IDENTIFIED1 | N. OF CASES |
---|---|---|
5'UTR | WT | 60 |
 | c.[-127C > T]+[=] | 1 |
 | c.[-205C > A]+[=] | 1 |
EXON 2 | WT | 54 |
 | c.[64G > A]+[=] | 4 |
 | c.[64G > A]+[64G > A] | 1 |
 | c.[37G > A]+[=] | 1 |
 | c.[56G > A]+[=] | 1 |
 | c.[157+30A > G]+[=] | 1 |
EXON 6 | WT | 55 |
 | c.[504+35G > A]+[=] | 7 |
EXON 7 | WT | 58 |
 | c.[536A > G]+[=] | 2 |
 | c.[544C > G]+[544C > G] | 1 |
 | c.[1187-27C > T]+[=] | 1 |
EXON 8 | WT | 61 |
 | c.[690+21C > A]+[=] | 1 |
EXON 12 | WT | 38 |
 | c.[1014G > C]+[=] | 19 |
 | c.[1014G > C]+[1014G > C] | 5 |
EXON 13 | WT | 7 |
 | c.[1187G > A]+[=] | 1 |
EXON 15 | WT | 61 |
 | c.[1477-40G > C]+[=] | 1 |
EXON 16 | WT | 58 |
 | c.[1544C > T]+[=] | 4 |