Table 1.

Micromutations and large fragment deletions of APC gene germline mutation in Chinese patients with familial adenomatous polyposis detected in this study

Family No.	Exons/introns	Base changes	Protein changes	Mutation types
2	Exon15	c.3927-3931delAAAGA	p.Glu1309AspfsX4	Frameshift mutation
3	Exon15	c.4179-4180GAdelinsT1	p.Asp1394LeufsX21	Frameshift mutation
4	Exon15	c.2336-2337insT1	p.Leu779PhefsX9	Frameshift mutation
5	Exon10	c.1327G>T	p.Glu443X	Nonsense mutation
6	Exon15	c.3923-3929delAAGAAAA1	p.Lys1308ArgfsX11	Frameshift mutation
7	Intron7	c.657+1 G>A		Splicing mutation
8	Exon15	c.3183delACAAA	p.Gln1062X	Frameshift mutation
10	Exon15 start1			Large fragment deletion
11	10A (Alternative exon) and Exon111			Large fragment deletion
12	Exon15	c.3202_3205delTCAA	p.Ser1068GlyfsX57	Frameshift mutation
14	Intron4	c.532-2A>T1		Splicing mutation

¹Micromutations or large fragment deletions were not reported previously. Mutation sequencing was shown in Figure 1; Peak of large fragment deletion was shown in Figure 2.