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. 2012 Jun 8;90(6):986–1001. doi: 10.1016/j.ajhg.2012.04.015

Table 2.

Summary of the LRBA Mutations

Affected Individual Substitution Mutation Exon Accessiona
P1 p.Ile2657Ser c.7970T>G 54 ss479152582
P2 p.Ile2657Ser c.7970T>G 54 ss479152582
P3 p.Arg1683∗ c.5047C>T 30 ss479152581
P4 p.Glu59∗ c.175G>T 3 ss479152583
P5b not applicable g.152211739_152222852del111114 1–2del nstd59
a

Accession numbers are for entries in dbSNP (P1–P4) or dbVar (P5).

b

For the deletion in P5, the positions are with respect to chromosome 4 (NCBI build 36).