. Author manuscript; available in PMC: 2013 Jan 1.

Published in final edited form as: Gastroenterology. 2011 Oct 10;142(1):71–77.e1. doi: 10.1053/j.gastro.2011.09.048

Table 3.

Results of sequence analysis

Patient code	Age at diagnosis	Sex	ASE^* value	APC mutation/variant
Patient code	Age at diagnosis	Sex	ASE^* value	Exon	Variant	SNP code	Effect (if known)
CASE 1	64	F	0.81	16	c.4479G>A	rs41115	p.Thr1493Thr
CASE 2	61	F	1.58	14	c.1635A>G	rs351771	p.Ala545Ala
				16	c.5268G>T	rs866006	p.Ser1756Ser
				16	c.5465A>T	rs459552	p.Asp1822Val
CASE 3	56	M	0.75		wt		/
CASE 7	55	M	1.59	14	c.1635A>G	rs351771	p.Ala545Ala
				16	c.5268G>T	rs866006	p.Ser1756Ser
CASE 12	68	F	0.93	IVS6	c.645+32C>T	rs29009961	/
				14	c.1635A>G	rs351771	p.Ala545Ala
				16	c.5268G>T	rs866006	p.Ser1756Ser
				16	c.5465A>T	rs459552	p.Asp1822Val
CASE 16	56	M	1.57	IVS1	c.1-111T>C^†	-	/
				16	c.3949G>C	rs1801166	p.Glu1317Gln
				16	c.4479A	rs 41115	p.1493Thr
CASE 18	76	F	1.78		wt		/
CASE 19	43	F	0.43	7	c.646C>T		p.Arg216X
CASE 22	66	F	1.64	16	c.4479G>A	rs41115	p.Thr1493Thr
CASE 23	65	M	2.46	16	c.4479A	rs41115	p.1493Thr
CASE 25	66	M	1.72	IVS1	c.1-111T>C^†	-	/
				16	c.3949G>C	rs1801166	p.Glu1317Gln
				16	c.4479A	rs41115	p.1493Thr
CASE 28	76	M	1.76		wt		/
CASE 29	68	M	0.98	14	c.1635A>G	rs351771	p.Ala545Ala
				16	c.3512G>A		p.Arg1171His
CASE 31	60	M	0.68	IVS6	c.645+32C>T	rs29009961	/
				14	c.1635A>G	rs351771	p.Ala545Ala
CASE 32	48	F	0.95	16	c.5268G>T	rs866006	p.Ser1756Ser
				16	c.5465A>T	rs459552	p.Asp1822Val
CASE 33	45	F	0.94		wt		/
CASE 34	74	M	1.70	16	c.4479G>A	rs41115	p.Thr1493Thr
				16	c.5268G>T	rs866006	p.Ser1756Ser
				16	c.5465A>T	rs459552	p.Asp1822Val
CASE 37	71	M	1.78		wt		/
CASE 44	69	F	1.55	14	c.1635A>G	rs351771	p.Ala545Ala
				16	c.4479G>A	rs41115	p.Thr1493Thr
				16	c.5268G>T	rs866006	p.Ser1756Ser
				16	c.5465A>T	rs459552	p.Asp1822Val
CASE 49	77	F	1.59	IVS3	c.220+4G>A^†	-	/
				16	c.4479G>A	rs41115	p.Thr1493Thr
				16	c.5034A>G	-	p.Gly1678Gly
				16	c.5268G>T	rs866006	p.Ser1756Ser
CASE 50	41	M	1.58	16	c.5268G>T	rs866006	p.Ser1756Ser
				16	c.5465A>T	rs459552	p.Asp1822Val
CASE 51	51	M	0.94	14	c.1635A>G	rs351771	p.Ala545Ala
				16	c.5268G>T	rs866006	p.Ser1756Ser
				16	c.5465A>T	rs459552	p.Asp1822Val
				16	c.7862C>G	rs72541816	p.Ser2621Cys
CASE 53	36	M	0.96	16	c.4479A	rs41115	p.1493Thr

ASE values outside 1.645 SD are in bold

^†

Predicted effects on splicing and transcriptional regulation of these novel APC variants were evaluated in silico using fruitfly software (www.fruitfly.org) and a transcriptional regulatory element database (www.rulai.cshl.edu), respectively.