Fig. 1

MED12 mutation analysis in LM based on number of LM/uterus. a A diagram illustrated the number of patients and LM collected from the number of tumors (LM-H: ≥5 LM/uterus; LM-L: <5 leiomyoma/uterus). b MED12 mutation patterns and distribution in 529 LM. Pie chart illustrated the percentage of each mutation type. The actual mutation distribution in MED12 exon 2 and intron 1-exon 2 boundary were illustrated along with a sequence map. Each dot represents one mutation. Blue lines under the sequence indicated the actual deletion site and extension below the graph. Red lines indicate complex structure changes in exon 2. MED12 Mut: Leiomyomas with MED12 mutation; MED12 NM: Leiomyomas without MED12 mutation. c Percentage of MED12 mutations (light blue) in LM-H and LM-L uteri. The number of tumors (n) were shown and number of LM per uterus (LM-H: blue; LM-L: purple). d Differences in MED12 mutation types were NM: non-mutation; SV: Structure variants, insertions/deletions; other mut: all point mutation other than c.130-131; c.130-131 mut: mutation at codon44 c.130 and c.131 guanine. e Percentage of c.130-131 missense mutations G>A (dark blue), G>C (medium blue), and G>T (light blue) by number of LM per uterus