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 |
, variants detected in previous research [17].