Table 3.

Mutations identified in VDR.

Position (AA)	Mutation  (CDS)	Mutation (amino acid)	Mutation  type
8	c.23C > T	p.T8I	Substitution – missense
33	c.98G > A	p.G33D	Substitution – missense
52	c.156G > A	p.M52I	Substitution – missense
74	c.221G > A	p.R74H	Substitution – missense
78	c.233C > G	p.A78G	Substitution – missense
130	c.389G > A	p.R130H	Substitution – missense
146	c.438C > G	p.T146T	Substitution – coding silent
149	c.445G > T	p.D149Y	Substitution – missense
154	c.460C > T	p.R154W	Substitution – missense
158	c.472C > T	p.R158C	Substitution – missense
159	c.477G > C	p.V159V	Substitution – coding silent
161	c.481G > A	p.D161N	Substitution – missense
162	c.484G > T	p.G162C	Substitution – missense
169	c.507G > A	p.R169R	Substitution – coding silent
181	c.541G > T	p.D181Y	Substitution – missense
191	c.573C > A	p.I191I	Substitution – coding silent
199	c.597G > A	p.S199S	Substitution – coding silent
208	c.623G > T	p.S208I	Substitution – missense
236	c.708C > A	p.Y236a	Substitution – nonsense
253	c.757G > T	p.D253Y	Substitution – missense
274	c.820C > T	p.R274C	Substitution – missense
296	c.887G > A	p.R296H	Substitution – missense
320	c.960G > A	p.L320L	Substitution – coding silent
339	c.1015G > A	p.V339I	Substitution – missense
350	c.1049C > T	p.A350V	Substitution – missense
350	c.1050G > A	p.A350A	Substitution – coding silent
352	c.1056T > C	p.I352I	Substitution – coding silent
353	c.1058A > T	p.E353V	Substitution – missense
358	c.1072C > T	p.R358C	Substitution – missense
365	c.1094C > T	p.T365M	Substitution – missense
368	c.1103G > A	p.R368H	Substitution – missense
379	c.1135C > T	p.L379F	Substitution – missense
399	c.1196A > T	p.K399M	Substitution – missense
402	c.1205G > C	p.R402P	Substitution – missense
418	c.1254G > T	p.V418V	Substitution – coding silent
420	c.1258G > A	p.E420K	Substitution – missense

^aNonsense mutation resulting in stop codon.