Table 1

List of PALB2 variants identified

A.Protein-truncating variants (PTVs)
No	Type of mutation	cDNA change	AA change	Domain	Cases	Controls	Total	Previously reported
1	Nons	c.7G>T	p.E3X		5	0	5	Yes
2	SS	c.48+2T>G	–		0	1	1	Yes
3	Nons	c.73A>T	p.K25X	CC	1	0	1	Yes
4	SS	c.109–1G>A	–		1	0	1	No
5	SS	c.109-2A>G	-		1	0	1	Yes
6	SS	c.211+1G>A	–		4	3	7	Yes
7	FS delins	c.336_337delinsA	p.P113fs		3	0	3	No
8	FS del	c.426_428delinsCC	p.K142fs		1	0	1	No
9	Nons	c.751C>T	p.Q251X		0	1	1	Yes
10	Fs del	c.839del	p.N280fs		1	0	1	Yes
11	FS ins	c.886dup	p.M296fs		0	1	1	Yes
12	Fs del	c.1037_1041del	p.K346fs		4	0	4	Yes
13	Nons	c.1042C>T	p.Q348X		1	0	1	Yes
14	Fs del	c.1050_1053del	p.T351fs		2	0	2	Yes
15	Fs del	c.1056_1057del	p.K353fs		1	0	1	Yes
16	FS del	c.1059del	p.K353fs		3	0	3	Yes
17	FS del	c.1133del	p.P378fs		1	0	1	No
18	FS ins	c.1158dup	p.S387fs		1	0	1	No
19	Nons	c.1543A>T	p.K515X		1	0	1	No
20	FS del	c.1592del	p.L531X		0	1	1	Yes
21	FS del	c.1783del	p.D595fs	MBD	1	0	1	Yes
22	Fs del	c.1976_1977del	p.L659fs		1	0	1	No
23	Nons	c.2012T>G	p.L671X		1	0	1	Yes
24	Fs del	c.2167_2168del	p.M723fs		3	0	3	Yes
25	Nons	c.2257C>T	p.R753X		1	0	1	Yes
26	Nons	c.2336C>G	p.S779X		1	0	1	Yes
27	FS del	c.2607del	p.V870X	WD40	3	1	4	Yes
28	FS ins	c.2760dup	p.Q921fs	WD40	1	0	1	Yes
29	Nons	c.2968G>T	p.E990X	WD40	8	2	10	Yes
30	SS	c.3114–1G>A	–		1	1	2	Yes
31	FS del	c.3143del	p.K1048fs	WD40	1	0	1	Yes
32	Nons	c.3166C>T	p.Q1056X	WD40	1	0	1	Yes
33	Nons	c.3256C>T	p.R1086X	WD40	1	0	1	Yes
34	FS del	c.3543del	p.F1181fs	WD40	2	0	2	No
			Total		57	11	68
B.Rare missense variants*
No	AGVGD score	cDNA change	AA change	Domain	Cases	Ctrls	Total	Previously reported
1	C25	c.25C>G	p.L9V	CC	1	0	1	No
2	C65	c.109C>T	p.R37C	CC	1	2	3	Yes
3	C25	c.110G>A	p.R37H	CC	1	0	1	Yes
4	C15	c.116A>T	p.Q39L	CC	1	0	1	Yes
5	C65	c.1201G>C	p.G401R	ChAM	1	3	4	No
6	C25	c.1213C>G	p.P405A	ChAM	5	5	10	Yes
7	C65	c.1226A>G	p.Y409C	ChAM	1	1	2	Yes
8	C15	c.1255T>C	p.C419R	ChAM	2	1	3	No
9	C65	c.1843C>T	p.P615S	MBD	0	1	1	Yes
10	C15	c.2687C>T	p.S896F	WD40	4	0	4	No
11	C15	c.2978C>T	p.T993M	WD40	4	1	5	Yes
12	C15	c.3035C>T	p.T1012I	WD40	9	13	22	Yes
13	C35	c.3080T>G	p.L1027R	WD40	1	0	1	No
14	C25	c.3107T>C	p.V1036A	WD40	2	0	2	Yes
15	C65	c.3128G>T	p.G1043V	WD40	1	0	1	No
16	C15	c.3132A>T	p.Q1044H	WD40	0	1	1	Yes
17	C15	c.3506C>G	p.S1169C	WD40	0	1	1	Yes
18	C15	c.3549_3552delinsTTTG	p.H1184L	WD40	1	0	1	No
			Total		35	29	64

Reference sequence: NM_024675.3.
*, variants with AGVGD scores of C15 and above; CC, coiled-coil; PALB2, partner and localiser of BRCA2.