Figure 2.
GNAO1 mutations in patients with ALL or other diseases. (A) The type and position of each GNAO1 mutation with or without the ETV6-RUNX1 (E/V) fusion identified are shown. R209C, R243C, and Q307R mutations in a patient with E/R fusion ALL, A166T mutation in a patient with non-E/R fusion ALL, T329M mutation in a patient with acute leukemia of ambiguous lineage, K317K mutation in a patient with AML, G184S and G203R mutation in patients with early infantile epileptic encephalopathy,15,16 R243H mutation in a patient with breast cancer,20 and Q205L mutation with NIH-3T3 transformation.18 (B) Allele frequency analysis of new GNAO1 mutations by deep genomic sequencing in the specimens identified, corresponding to supplemental Table 2.

GNAO1 mutations in patients with ALL or other diseases. (A) The type and position of each GNAO1 mutation with or without the ETV6-RUNX1 (E/V) fusion identified are shown. R209C, R243C, and Q307R mutations in a patient with E/R fusion ALL, A166T mutation in a patient with non-E/R fusion ALL, T329M mutation in a patient with acute leukemia of ambiguous lineage, K317K mutation in a patient with AML, G184S and G203R mutation in patients with early infantile epileptic encephalopathy,15,16  R243H mutation in a patient with breast cancer,20  and Q205L mutation with NIH-3T3 transformation.18  (B) Allele frequency analysis of new GNAO1 mutations by deep genomic sequencing in the specimens identified, corresponding to supplemental Table 2.

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