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Table 2 SMO mutations in 12 sporadic and 19 NBCCS-associated KCOTs

From: Smoothened gene alterations in keratocystic odontogenic tumors

Histology Sample ID Exon/intron Nucleotide definition Amino acid definition dbSNP rs# cluster ID MAF Class Function
S* K1, K2, K4,K5, K6, K7,K8, K10, K11 Exon 2 c.T776A p.Phe166Ile Missense Unknown
S K7 Exon 3 c.A862G p. = (194)Glu rs56334250 0.0266 Synonymous Polymorphism
S K4 Exon 5 c.T1281G p.Val334Gly Missense Unknown
S K2, K3, K4, K5, K6, K7, K8, K9, K10, K11, K12 Exon 6 c.G1444C p. = (388)Gly rs2228617 0.2277 Synonymous Polymorphism
N* N1, N2, N3, N4, N5, N6, N7, N8, N9, N10, N11, N12, N13, N14, N15, N16, N17, N18, N19, Exon 6 c.G1444C p. = (388)Gly rs2228617 0.2277 Synonymous Polymorphism
S K1 Exon 10 c.G2049C p.Ser590Thr rs114406835 0.010 Missense Polymorphism
  1. *S = sporadic, N = NBCCS-associated.