Note: The original file submitted is modified to provide links to the results.
Mutations
IVS1+G>T Intron 1, donor splice site Aberrant splicing
+91C>T Exon 2 Nonsense, R31X
Exon G nt 42 G>Ab Exon G, 3¢UTR
Exon G¢ nt 65 G>Ab,c Exon G¢ Missense, A->T
IVS5+1G>A Intron 5, donor splice site Aberrant splicing

IVS1-41insCC Intron 1
IVS1-45C>G Intron 1
IVS1-47G>T Intron 1
IVS2-16C>T Intron 2
+381G>T Exon 4 Silent, G127G
IVS6-45delC Intron 6
IVS7+61G>A Intron 7
IVS7-27G>A Intron 7
IVS9-66T>C Intron 9
IVS13+21C>G Intron 13
IVS13-42G>A Intron 13
IVS13-45A>G Intron 13
IVS13-108A>G Intron 13
+1188A>G Exon 14 Silent, P396P
IVSA-34C>T Intron A
IVSB+52C>T Intron B
IVSB-34G>A Intron B
IVSC+121T>A Intron C
IVSC-64C>A Intron C
Exon D nt 240 C>Tb Exon D Silent, A->A
IVSE-12T>C Intron E
IVS16+12C>T Intron 16
IVS17-113A>G Intron 17
+1440C>T Exon 18 Silent, V480V
+1557G>C Exon 19 Non-pathogenicd, E519D
IVS19+12G>C Intron 19
+1737T>C Exon 21, 3¢UTR
+1877C>T Exon 21, 3¢UTR
+1902A>G Exon 21, 3¢UTR