Pt AGL Genotype Position Effects

1 2423C>T, Hetero exon 17 R675W

4380G>A, Hetero exon 31 W1327X

2 1100T>C, Homo exon 7 C234R

3 IVS21+1G>A Homo intron 21 Exon skipping

5 512A>G Homo exon 4 T38A

6 IVS6+3A>G Homo intron 6 Inframe del Exon 6

8 2547delG Hetero exon 17 Frameshift

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