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.