Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVCgene

BMC Medical Genetics

Table 3 The mutations described in EVC

cDNA change	Alternative or Protein prediction	Reference
c.174+1G>A	IVS1+1G>A	[3]
c.384+5_6GA>AC	IVS3+5_6GA>AC	[3]
c.703-1G>A	IVS5-1G>A	[3]
c.734delT	p.D246TfsX25	[1]
c.873_874insT	p.E292X	[3]
c.904_906delAAG	p.K302del	[1, 3]
c.910_911insA	p.R304KfsX3	[1, 3]
c.919T>C	p.S307P	[1, 3]*
c.1018C>T	p.R340X	[1, 3]
c.1328G>A	p.R443Q	[1]
c.1694delC	p.A565VfsX22	[3]
c.1777-2A>G	IVS12-2A>G	[3]
c.1813C>T	p.Q605X	[3]
c.1868T>C	p.L623P
c.1886+5G>T	IVS13+5G>T	[1, 3]
c.2089_2090insCA	p.R697TfsX14	[3]
c.2200C>T	p.Q734X	[3]
c.2278_2279insCGGC	p.R760PfsX7	[3]**
c.2304+2T>G	IVS15+2T>G	[3]
c.2456delG	p.M820WfsX107	[1]
c.2635C>T	p.Q879X	[1, 3]
c.2688G>C	p.Q896H	[3]
c.1098+1G>A 5' splice-site mutation in intron 8		[15]
del EVC, EVC2, C4orf6, STK32B		[15]
del exons 10–21		[3]
del exons 12–21		[1]

*This designation was changed from that in the original report [3], wt is T, so the mutation nomenclature should be T>C. **This designation was changed from that in the original report [3] – the more 3' designation specified here is the proper nomenclature. These changes correspond to the specifications of the mutation nomenclature of the Human Genome Variation Society http://www.hgvs.org/mutnomen/.

ISSN: 1471-2350