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. Author manuscript; available in PMC: 2014 Apr 28.
Published in final edited form as: JAMA Neurol. 2013 Jan;70(1):78–84. doi: 10.1001/jamaneurol.2013.579

Table.

Homozygous Stop Changes (Including Stop Loss and Stop Gain) in the 3 Cases Where Homozygous TREM2 Mutations Were Found

Chr Gene Change Function Change
Proband 1 6 TREM2 Stop gain NM_018955:c.C97T:p.033X
7 TSGA13 Stop gain NM_052933:c.C183G:p.Y61X
12 PEB1 Stop loss NM_005039:c.T454C:p.X152R
Proband 2 17 CCDC144NI Stop gain NM_001004306:c.C533A:p.S178X
19 IL28A Stop gain NM_172133:c.C562T:p.R188X
Proband 3 12 PRB1 Stop loss NM_005039:c.T454C:p.X152R
14 PLEKHH1 Stop gain NM_020715:c.C4042T:p.R1348X
14 YLPM1 Stop gain NM_019539:c.G4950T:p.E1654X
19 HAS1 Stop gain NM_001523:c.C42A:p.C14X

Abbreviation: Chr, chromosome.