Molecular Vision: Paliwal, Mol Vis 2010; 16:729-739. Table 1

Table 1. TACSTD2 mutations reported in various studies.

Study number	Mutation	Amino acid change	Reference
1	c.2T>G	Met1Arg	[6]
2	c.84insG	28fsThrXGlu93X	[7]
3	c.198C>A	Cys66X	[6]
4	c.250A>T	Lys84X	[6]
5	c.322T>C	Cys108Arg	[6]
6	c.341T>G	Phe114Cys	[7]
7	c.352C>T	Gln118X	[6]
8	c.352C>G	Gln118Glu	[6]
9	c.355T>A	Cys119Ser	[6]
10	c.480delC	His160fs174GluX	[7]
11	c.493_494insCCACCGCC	Gly165AlafsX15	[6]
12	c.509C>A	Ser170X	[6]
13	c.519dupC	Ala174ArgfsX43	[6]
14	c.526_576del51	del.176_192	[7]
15	c.551A>G p	Tyr184Cys	[6]
16	c.557T>C	Leu186Pro	[6]
17	c.564delC	Lys189SerfsX82	[6]
18	c.581T>A	Val194Glu	[6]
19	c.619C>T	Gln207X22	[6]
20	c. 632delA	Gln211ArgfsX60	[6]
21	c.653delA	Asp218ValfsX53	[6]
22	c.679G>A	Glu227Lys	[7]
23	c.772_783delATCTATTACCTGinsT	lle258X 772 to 783del	[6]
24	c.811delA	Lys271SerfsX26	[6]