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. Author manuscript; available in PMC: 2014 Apr 1.
Published in final edited form as: Nat Genet. 2013 Sep 8;45(10):1226–1231. doi: 10.1038/ng.2754

Table 1.

PAX5 mutations found in familial and sporadic i(9)(q10)/dic(9;v) pre-B cell ALL samples

Inheritance Patient Mutation Tumor status Germline status
Family 1 IV6 c.547G>A = p.Gly183Ser Homozygous Heterozygous
Family 2 III4 c.547G>A = p.Gly183Ser Homozygous Heterozygous
Family 2 IV1 D c.547G>A = p.Gly183Ser Homozygous Heterozygous
Family 2 IV1 R c.547G>A = p.Gly183Ser Homozygous
Family 2 IV2 D c.547G>A = p.Gly183Ser Homozygous Heterozygous
Family 2 IV2 R c.547G>A = p.Gly183Ser Homozygous
Familial1 c.239C>G = p.Pro80Arg (tumor shows dic(9;20)(p11;q11.1)) Homozygous Wildtype
Sporadic c.77T>G = p.Val26Gly Heterozygous Wildtype
Sporadic c.77T>G = p.Val26Gly Heterozygous Wildtype
Sporadic c.77T>G = p.Val26Gly Heterozygous Wildtype
Sporadic c.197G>A = p.Ser66Asn Homozygous ND
Sporadic c.239C>G = p.Pro80Arg Homozygous Wildtype
Sporadic c.239C>G = p.Pro80Arg Homozygous Wildtype
Sporadic c.239C>G = p.Pro80Arg Homozygous Wildtype
Sporadic c.547G>A = p.Gly183Ser Homozygous ND
Sporadic c.548G>T = p.Gly183Val Heterozygous Wildtype
Sporadic c.1012G>T = p.Gly338Trp Heterozygous Wildtype
Sporadic c.1049-1051delAGTinsGTCCG = p.Gln350fs Heterozygous Wildtype
Sporadic c.1100_1100+15 del16bp (IVS9 splice) heterozygous ND
1

Familial case as reported in main text. ND = Not Determinable. Germline DNA either not tested or not available. PAX5 accession No: NM_016734

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