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. Author manuscript; available in PMC: 2015 Jul 1.
Published in final edited form as: Hum Mutat. 2014 May 21;35(7):824–827. doi: 10.1002/humu.22563

Table 1.

Novel missense variants detected in regions of interest with GERP > 2

Chr Position HGVS annotation Ref Alt Gene AA change GERP
11 67075198 NM_017857.3:c.781G>A; G A SSH3 p.Glu261Lys 3.49
11 67817691 NM_006019.3:c.2206C>A; C A TCIRG1 p.Arg736Ser 3.78
11 71712875 NM_173042.2:c.553T>C; T C IL18BP p.Ser185Pro, 2.97
11 75317003 NM_033063.1:c.1166C>G; G C MAP6 p.Ala389Gly 2.48

RS identifiers do not exist for these SNVs at the time of publication. Sites in bold are those for which both affected individuals carry the minor (Alt) allele.