. Author manuscript; available in PMC: 2014 Feb 5.

Published in final edited form as: Gastroenterology. 2009 Jul 25;137(3):1183–1186. doi: 10.1053/j.gastro.2009.06.055

Table 2.

Other Variants Detected in PALB2

Sequence variant	Protein change	No. of times observed	Additional information
c.1 – 47 G>A	5′ UTR	13	rs8053188^a
c.212 –58 A>C	Intron 3	16	non-coding^a
c.1684 +42 ins.TGA	Intron 4	1	non-coding^c
c.854 C>T	S285L	1	possibly damaging,^c,^d tolerated^e
c.1010 T>C	L337S	4	rs45494092^a
c.1572 A>G	S524S	1	rs45472400^a
c.1194 G>A	V398V	1	Silent^a
c.1676 A>G	Q559R	40	rs152451^a
c.1743 A>G	L581L	1	Silent^c
c.2014 G>C	E672Q	18	rs45532440^a
c.2586 +58 C>T	Intron 6	57	rs249954^b
c.2590 C>T	P864S	1	rs45568339^a
c.2732 C>T	T911I	1	possibly damaging,^c,^d tolerated^e
c.2794 G>A	V932M	4	rs45624036^a
c.2816 T>G	L939W	2	rs45478192^a
c.2993 G>A	G998E	11	rs45551636^a
c.3300 T>G	T1100T	16	rs45516100^a

Previously reported.⁹

Previously reported.¹⁰

Previously unreported.

Polyphen classification.

Sorting intolerant from tolerant (sift) classification.