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. 2010 Jun 9;18(9):999–1005. doi: 10.1038/ejhg.2010.70

Table 1. Mutations detected in the Dutch population.

Nr Gene Fam nr. Mutation Amino-acid change Mode of inheritance Age at testing (Sex) Picture (Figure 2)
1 SHH 10304 c.148_166del19 p.N50X Paternal Fetus (M) A/B
2   10959 c.304 T>C p.C102R De novo Fetus (F)  
3   14317 c.1145 T>C p.L382P Paternal 46 (F)  
               
4 ZIC2 8774 c.479delC p.P159RfsX58 Germline 8 (M)  
5   9004 c.1090 C>T p.Q364X De novo 0 (F) C
6   14914 c.1325delC p.S442SfsX112 De novo Fetus (F)  
7   7430 c.1377_1406dup30 p.A461_470dup Maternal 1 (M) D/E/F
8   12940 c.1377_1406dup30 p.A461_470dup De novo Fetus (M) G
9   14475 c.1377_1406dup30 p.A461_470dup De novo fetus (F) H
10   14919 c.1448 G>A p.G483D Maternal Fetus (F)  
11   11643 c.1508_1520del13 p.G503AfsX48 De novo 1 (M) I
12   9723 Gene deletion Unknown 62 (F) J
               
13 SIX3 12248 c.235 A>G p.M79V De novo Fetus (F)  
14   9823 c.404_407dupGCGC p.V137RfsX18 De novo 1 (F) K
15   10482 c.463_465delCAC p.H155del Maternal 0 (F)  
16   8616 c.736delA p.T245fsX5 De novo 0 (F)  
17   8449 c.769 C>G p.R257G Paternal 16 (M)  
18   7583 c.806 G>T p.R269M Maternal 21 (M) L/M
19   10536 c.806 G>C p.R269T Paternal 60 (M) N/O
20   5726 c.806 +1 G>T Frameshift De novo/germline 2 (M)  
21   12519 Gene deletion De novo Fetus (M) P

Abbreviations: M, male; F, female. †, deceased