Table 2.
Gene | Protein Change | Chr | Pos | Ref | Var |
---|---|---|---|---|---|
CD34 | T89K | 1 | 208072568 | G | T |
FLNB | D1264Y | 3 | 58110124 | G | T |
LRP4 | N138S | 11 | 46921431 | T | C |
PLXNB1 | A838S | 3 | 48461183 | C | A |
HOMER3 | G78V | 19 | 19049232 | C | A |
PLCH1 | N856S | 3 | 155205833 | T | C |
PRSS50 | V98I | 3 | 46758942 | C | T |
PDE12 | R23W | 3 | 57542173 | C | T |
SLCO1B7 | R11I | 12 | 21168661 | G | T |
ABHD14A-ACY1 | predicted splice site mutation | 3 | 52011879 | C | T |
GNL3 | V367M | 3 | 52727257 | G | A |
Chr, chromosome; Pos, chromosomal position, Ref, reference base; Var, variant base.