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Table 2 EXT1 and EXT2 mutations in patients

From: A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

Case Number Mutant gene Variant type
EXT1 EXT2
1 c.1567delC   Small deletion(frameshift)
2 c.1722 + 2 T > G, I8 + 2 T > G   Splice site
3 c.651-664delinsTTT   Frameshift
4 c.680delG   Small deletion(frameshift)
5   c.1016G > A Missense
6   c.544C > T Nonsense
7 c.1879_1881delCAC   Small deletion(codon)
8 c.1108G > T   Nonsense
9 c.335delA   Small deletion(frameshift)
10   EXT2 ALL EXON del  
11   c.IVS4 + 1G > T Splice site
12   c.1075A > T Nonsense
13 c.942_943delAG   Small deletion(frameshift)
14 c.1784_1785delGC   Small deletion(frameshift)
15   c.IVS2 + 2_5delTAGG Splice site
16 c.1469delT   Small deletion(frameshift)
17   c.67C > T Nonsense
18   c.678C > A Nonsense
19 c.ins247C   Small insert(frameshift)
20   c.1188G > A Nonsense
21   c.924C > A Nonsense
22   c.627-2_630delinsT Splice site
23 c.1705delG   Small deletion(frameshift)
24 c.1551G > A   Nonsense
25 c.1019G > A   Missense
26 c.1930A > T   Missense
27 c.1165-1G > T   Splice site
28 c.1469delT   Small deletion(frameshift)
29   c.925_928dupCCAC Small duplication(frameshift)
30 c.635delG   Small deletion(frameshift)
31 c.1883 + 1G > A(het)   Splice site
32   c.382C > T Missense
33 EXT1 E4 del   
34   c.1182delG Small deletion(frameshift)
35   c.910C > T Nonsense mutation
36 EXT1 E2-E11 del   
37 c.247dupC   Small duplication(frameshift)
38 EXT1 E4 del   
39 c.1930A > T   Missense
40 c.200C > A;   Missense
41   c.1181G > A Nonsense
42 EXT1 ALL EXON del   
43 EXT1 ALL EXON del   
44 c.659G > A   Missense
45 c.354dupA   Small duplication(frameshift)
46 c.1911C > A   Nonsense