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. 2013 Jan 17;8(1):e53727. doi: 10.1371/journal.pone.0053727

Table 4. Rare noncoding and synonymous variants identified in ASMT.

Location Mutation Genotype Cases (n = 398) Controls (n = 437)
Promoter rs56690322 AG 6 4
−91G/A AG 0 1
−56C/Aa CA 1 0
−45C/Ta CT 20 26
TT 1 2
Exon 1 +57G/C GC 0 1
+11 C/Ga CG 21 28
GG 0 2
+147 A/C AC 9 6
Intron 2 IVS2+943T TT 1 0
Exon 3 p.S91S CT 0 1
H119H CT 0 1
Intron 5 IVS5+28G>A AG 4 2
IVS5+43G>C CG 1 0
Intron 7 IVS7+22 A>T AT 1 1
Exon 8 F237F CT 0 1
a

, variants detected in previous research [17].