Table 1.

Reported CYLD Germline Mutations in BSS

Number	Nucleotide Change (NM_015247.2)a	Amino Acid Change (NP_056062.1)b	Alternate (original) report	Exon/ Intron	Mutation Type	References	Ethnicity/ (country of publication)
1	c.1096_1097del	p.Q366TfsX12		9	FS	(Saggar et al. 2008)	(USA)
2	c.1112C>A	p.S371X		9	NS	(Bignell et al. 2000; Bowen et al. 2005; Saggar et al. 2008)	(UK), Irish, (USA),
3	c.1135G>T	p.E379X	c.G1526>T	9	NS	(Almeida et al. 2008)	(Switzerland)
4	c.1207C>T	p.Q403X	c.C1518>T, p.N403X	10	NS	(Almeida et al. 2008)	Irish
5	c.1364_1365del	p.Q455RfsX22	p.454fsX476	10c	FS	(Liang et al. 2008)	Chinese
6	c.1455T>A	p.Y485X		10	NS	(Bignell et al. 2000)	(UK)
7	c.1462delA	p.I488SfsX10		10d	FS	(Zheng et al. 2004)	Chinese
8	c.1518+2T>C	ND		10	S	(Ly et al. 2004)	(UK)
9	c.1569T>G	p.Y523X		11	NS	(Bignell et al. 2000)	(UK)
10	c.1628_1629del	p.S543X		11	NS	(Saggar et al. 2008)	(USA)
11	c.1681_1682del	p.L561SfsX8	p.L568X	11	FS	(Bignell et al. 2000)	(UK)
12	c.1755_1758dup	p.M587DfsX29	c.1758ins4, S615X	12	FS	(Bowen et al. 2005; Saggar et al. 2008)	Scandinavian (USA)
13	c.1776delA	p.G593AfsX11	p.K603X	12	FS	(Bignell et al. 2000)	(UK)
14	c.1787G>A	p.G596D		12e	MS	(Zuo et al. 2007)	(China)
15	c.1826+1G>A	ND		12	S	(Huang et al 2009)	Taiwanese
16	c.1826+2T>G	ND	c.1862+2T>G,	12	S	(Liang et al. 2005)	Chinese
17	c.1830dupA	p.F611IfsX4	c.1830_1831insA p.V630X	13	FS	(Bignell et al. 2000; Saggar et al. 2008)	(UK), (USA)
18	c.1859_1860del	p.L6201TfsX2		13	FS	(Bignell et al. 2000; Saggar et al. 2008)	Chinese (USA)
19	c.1863dupA	p.L622RfsX2	c.1863_1864insA	13	FS	(Saggar et al. 2008)	(USA)
20	c.1935dupT	p.N646X		13	NS	(Bignell et al. 2000)	(UK)
21	c.1961T>A	p.V654E		14	MS	(Kazakov et al. 2009)	Czech
22	c.2012_2021del	p.A671Dfx13		14	FS	(Heinritz et al. 2006)	(Germany)
23	c.2042A>G	p.D681G	c.A2433>G	15	MS	(Almeida et al. 2008)	(Switzerland)
24	c.2081delT	p.L694X	c.del2472T	15	NS	(Almeida et al. 2008)	(Switzerland)
25	c.2104dupA	p.I702NfsX22	c.2104_2105insA	15	FS	(Salhi et al. 2004)	Algerian
26	c.2128C>T	p.Q710X		16f	NS	(Zheng et al. 2004)	Chinese
27	c.2138delA	p.Y713SfsX22		16	FS	(Bignell et al. 2000)	(UK)
28	c.2154dupT	p.M719EfsX5	c.2154_2155insT, p.F738fsX723	16	FS	(Saggar et al. 2008)	(USA)
29	c.2172delA	p.V725LfsX10		16	FS	(Bignell et al. 2000; Scheinfeld et al. 2003; Saggar et al. 2008)	(UK), (USA), (USA),
30	c.2214delT	p.F738LfsX6		16	FS	(Saggar et al. 2008)	(USA)
31	c.2240A>G	p.E747G		16	MS	(Hu et al. 2003; Saggar et al. 2008)	Turkish, (USA),
32	c.2240_2241delA	p.E747GfsX17	c.2241_2242delAG	16	FS	(Liang et al. 2005)	Chinese
33	c.2252delG	p.C751FfsX2	c.2253delG	17	FS	(Poblete Gutierrez et al. 2002)	German
34	c.2272C>T	p.R758X		17	NS	(Bignell et al. 2000; Oiso et al. 2004; Zhang et al. 2006)g	(UK), Japanese, Chinese,
35	c.2290_2294del	p.K764KfsX2		17	FS	(Saggar et al. 2008)	(USA)
36	c.2305_2306insC	p.I769TfsX14		17	FS	(Bignell et al. 2000)	(UK)
37	c.2305delA	p.I769FfsX7		17	FS	(Bowen et al. 2005; Saggar et al. 2008)h	Spanish, (USA),
38	c.2339T>G	p.L780X		17	NS	(Bowen et al. 2005; Saggar et al. 2008)	Irish, (USA),
39	c.2350+5G>A	ND		18	S	(Bignell et al. 2000)	(UK)
40	c.2355_2358del	p.R786SfsX45	p.M785fsX45	18	FS	(Zhang et al. 2004)	Chinese
41	c.2409C>G	p.Y803X		18	NS	(Liang et al. 2008)	Chinese
42	c.2460delC	p.C820X	p.C831X	18	NS	(Bignell et al. 2000)	(UK)
43	c.2467C>T	p.Q823X		18	NS	(Bignell et al. 2000)	(UK)
44	c.2469+1G>A	ND		18	S	(Bignell et al. 2000)i	(UK)
45	c.2546G>A	p.W849X	c.2937G>A	19	NS	(Almeida et al. 2008)	(Switzerland)
46	c.2569C>T	p.Q857X		19	NS	(Bignell et al. 2000)	(UK)
47	c.2602G>T	p.E868X		19	NS	(Bignell et al. 2000; Oranje et al. 2008)	(UK), (Netherlands)
48	c.2687G>C	p.G896A		20	MS	(Espana et al. 2007)	Spanish
49	c.2711C>T	p.P904L		20	MS	(Lv et al. 2008)	Chinese
50	c.2806C>T	p.R936X		20	NS	(Bignell et al. 2000; Bowen et al. 2005; Young et al. 2006; Saggar et al. 2008;j Kazakov et al. 2009)	(UK), Canadian, Irish, (USA), Czech,
51	c.2822A>T	p.D941V		20k	MS	(Zheng et al. 2004)	Chinese

NS: nonsense; MS: missense; FS: frame shift; S: splice-site

^aThe nucleotide numbering is based on the published GenBank sequence NM_015247.2, and nucleotide +1 is the adenine of the ATG initiation codon.

^bThe amino acid sequence is taken from the published GenBank sequence NP_056062.1 and begins with the translation initiation codon as 1.

^cOriginally reported as exon 15

^dOriginally reported as exon 9

^eOriginally reported as exon 11

^fOriginally reported as exon 17

^gBignell reported 2 families with this mutation

^hSaggar reported 2 families with this mutation

ⁱBignell reported 2 families with this mutation

^jSaggar reported 4 families with this mutation

^kOriginally reported as exon 21

ND: Not determined