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Table 2 The summary of reported mutations of NOG

From: Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

No. Mutation Phenotypes Reference
1 p. Leu20fs Multiple synostoses syndrome Takahashi et al. (2001)
2 p. Pro35Ala Brachydactyly type B Lehmann et al. (2007)
3 p. Pro35Ser Teunissen-Cremers syndrome Hirshoren et al. (2008)
4 p. Pro35Ser Proximal symphalangism Mangino et al. (2002)
5 p. Pro35Ser Brachydactyly type B Lehmann et al. (2007)
6 p. Pro35Arg Proximal symphalangism Gong et al. (1999)
7 p. Pro35Arg Tarsal–carpal coalition syndrome Dixon et at. (2001)
8 p. Ala36Pro Brachydactyly type B Lehmann et al. (2007)
9 p. Pro37Arg Tarsal–carpal coalition syndrome Debeer et al. (2004)
10 p. Pro42Ala Multiple synostoses syndrome Debeer et al. (2005)
11 p. Pro42Ser Proximal symphalangism Sha et al. (2019)
12 p. Pro42Arg Multiple synostoses syndrome Oxley et al. (2008)
13 p. Pro42Thr Multiple synostoses syndrome Aydin, H et al. (2013)
14 p. Val44fs Teunissen-Cremers syndrome Weekamp et al. (2005)
15 p. Glu48Lys Brachydactyly type B Lehmann et al. (2007)
16 p. Glu48Lys Proximal symphalangism Kosaki et al. (2004)
17 p. Pro50Arg Tarsal–carpal coalition syndrome Debeer et al. (2005)
18 p. Asp55Tyr Proximal symphalangism Xiong et al. (2019)
19 p. Glu85fs Stapes ankylosis with broad thumb and toes Brown et al. (2002)
20 p. Arg87fs Multiple synostoses syndrome Lee et al. (2014)
21 p. Gly91Cys Fibrodysplasia ossificans progressiva Kaplan et al. (2008)
22 p. Gly92Arg Fibrodysplasia ossificans progressiva Kaplan et al. (2008)
23 p. Gly92Glu Fibrodysplasia ossificans progressiva Kaplan et al. (2008)
24 p. Ala95Thr Fibrodysplasia ossificans progressiva Kaplan et al. (2008)
25 p. Ala102fs Proximal symphalangism Thomeer et al. (2011)
26 p. Gln110X Stapes ankylosis with broad thumb and toes Brown et al. (2002)
27 p. Leu129X Proximal symphalangism Takahashi et al. (2001)
28 p.Gln131X Stapes ankylosis with broad thumbs and toes Takashi etal. (2014)
29 p. Lys133X Stapes ankylosis with broad thumb and toes Takano et al. (2016)
30 p. Arg136Cys Proximal symphalangism Masuda et al. (2014)
31 p. Trp150Cys Proximal symphalangism Pan et al. (2015)
32 p. Cys155Phe Stapes ankylosis with symphalangism Usami et al. (2012)
33 p. Cys155Ser Proximal symphalangism Usami et al. (2012)
34 p. Arg167Gly Brachydactyly type B Lehmann et al. (2007)
35 p. Arg167Cys Proximal symphalangism Liu et al. (2015)
36 p. Cys184Tyr Proximal symphalangism Takahashi et al. 2001
37 p. Cys184Phe Proximal symphalangism Usami et al. 2012
38 p. Pro187Ser Brachydactyly type B Lehmann et al. (2007)
39 p. Pro187Ala Proximal symphalangism Ganaha et al. (2015)
40 p. Glu188fs Teunissen-Cremers syndrome Weekamp et al. (2005)
41 p. Gly189Cys Proximal symphalangism Gong et al. (1999)
42 p. Met190Val Multiple synostoses syndrome Oxley et al. (2008)
43 p. Leu203Pro Teunissen-Cremers syndrome Weekamp et al. (2005)
44 p. Arg204Leu Tarsal/carpal coalition syndrome Dixon et al. (2001)
45 p. Arg204Gln Tarsal-carpal coalition syndrome Das et al. (2018)
46 p. Trp205X Multiple synostoses syndrome Dawson et al. (2006)
47 p. Trp205Cys Facioaudiosymphalangism syndrome van den Ende et al. (2005)
48 p. Trp205fs Stapes ankylosis with broad thumb and toes Emery et al. (2009)
49 p. Cys215X Stapes ankylosis with broad thumb and toes Usami et al. (2012)
50 p. Trp217Gly Multiple synostoses syndrome Gong et al. (1999)
51 p. Ile220Asn Proximal symphalangism Gong et al. (1999)
52 p. Ile220fs Proximal symphalangism Gong et al. (1999)
53 p. Tyr222Asp Proximal symphalangism Gong et al. (1999)
54 p. Tyr222Cys Proximal symphalangism Gong et al. (1999)
55 p. Tyr222Cys Tarsal–carpal coalition syndrome Dixon et al. (2001)
56 p. Pro223Leu Proximal symphalangism Gong et al. (1999)
57 p. Cys228Gly Stapes ankylosis with broad thumb and toes Ishino et al. (2015)
58 p. Cys228Ala Multiple synostoses syndrome Ganaha et al. (2015)
59 p. Cys230Tyr Multiple synostoses syndrome Bayat et al. (2016)
60 p. Cys230Trp Proximal symphalangism Present study
61 p. Cys232Trp Multiple synostoses syndrome Rudnik-Schöneborn et al. (2010)
  1. Bold words indicate the patients with deafness