. 2016 Feb 16;113(9):E1236–E1245. doi: 10.1073/pnas.1519444113

Table 2.

XP-D, XP-E, XP-F, XP-G, and XP-V patients

XP ID no	Group	Age (y)	Age XP diagnosis (y)	Ethnicity	UDS^*	Allele 1	Protein change	Allele 2^†	Protein change	SSS	Age first cancer (y)	Type first cancer	No. MM	No. NMSC	Ocular severity score (maxiumum 12)	Neuro severity score (maximum 8)
XP109BR	D	4	1	Caucasian	32	c.2047C > T	p.Arg683Trp	c.1381C > G; c.2150C > G	p.Leu461Val; p.Ala717Gly	3	—		0	0	1	0
XP87BR	D	8	2	Caucasian	23	c.2047C > T	p.Arg683Trp	c.1867dupG	p.Val623fs	2	—		0	0	3	4
XP70BR	D	14	5	Caucasian	10	c.2047C > T	p.Arg683Trp	c.816–2A > G		3	10	SCC	0	1	4	6
XP16BR²⁴	D	21	1	Caucasian	16	c.2047C > T	p.Arg683Trp	c.1847G > A	p.Arg616Pro	3	14	BCC	0	1	1	5
XP71BR	D	22	14	Caucasian	19	c.2047C > T	p.Arg683Trp	c.816–2A > G		2	10	BCC	0	4	1	5
XP17BR	D	23	2	Caucasian	16	c.2047C > T	p.Arg683Trp	c.1847G > A	p.Arg616Pro	3	21	BCC	0	2	1	5
XPJCLO	D	26	1	Caucasian	19	c.2047C > T	p.Arg683Trp	c.1933_1934delCA	p.Gln645fs	2	—		0	0	1	8
XP135LO-S	D	34	5	Caucasian	25	c.2047C > T	p.Arg683Trp			3	13	BCC	0	22	3	5
XP135LO	D	35	8	Caucasian	25	c.2047C > T	p.Arg683Trp			3	12	BCC	1	50	3	5
XP104LO	D	47	3	Caucasian	13	c.2047G > A	p.Arg683Trp	c.718+1C > A		3	23	BCC	0	4	1	7
XP59BR	D	53	9	Caucasian	24	c.2047C > T	p.Arg683Trp	c.1381C > G; c.2150C > G	p.Leu461Val; p.Ala717Gly	2	36	BCC	5	23	4	3
XP67BR	D	65	55	Caucasian	75	c.1532G > A	p.Arg511Gln	c.1381C > G; c.2150C > G	p.Leu461Val; p.Ala717Gly	2	27	BCC	0	>40	3	2
XP30BR	D	21	4	Mixed	36	c.2048G > A	p.Arg683Gln	c.1827delC	p.Phe610fs	3	—		0	0	1	0
XP97BR	D	34	29	Haan Chinese	53	c.2048G > A	p.Arg683Gln	c.1378–26_1383del32		3	—		0	0	3	0

XP115BR	E	30	29	Pakistani	63	c.1149delG	p.Met383fs			1	—		0	0	0	0
XP105BR	E	49	46	Caucasian	75	c.1070C > T	p.Pro357Leu	c.716G > T	p.Arg239Ile	1	15	MM	35	>120	4	0
XP98BR	E	62	48	Caucasian	68	c.161G > A	p.Trp54X			1	15	BCC	2	>200	4	0
XP100BR	E	62	59	Caucasian	53	c.457–2A > C	Splice			0	9	BCC	0	>100	4	0

XP72BR	F	18	9	Caucasian	36	c.1135C > T	p.Pro379Ser			3	—		0	0	0	0
XP32BR³⁷	F	23	7	Caucasian	16	c.1135C > T	p.Pro379Ser	c.1765C > T	p.Arg589Trp	3	—		0	0	1	0
XP24BR³⁷	F	48	30	Caucasian	4	c.1765C > T	p.Arg589Trp	c.2395C > T	p.Arg799Trp	2	—		0	0	3	6

XP104BR	G	6	2	Pakistani	0	c.136delC	p.His46fs			3	—		0	0	3	5
XP118BR	G	10	9	Caucasian	3	c.2383G > A	p.(Ala795Thr)	c.1842delT	p.(Leu615fs)	3	—		0	0	1	0
XP55BR	G	15	4	Somali	1	c.264+1delG	Splice			1	—		0	0	4	4
XP56BR	G	18	7	Somali	1	c.264+1delG	Splice			0	—		0	0	4	4
XP34BR	G	20	2	Caucasian	3	c.2453C > T	p.Ala818Val	c.2586_2587delTA	p.Thr863fs	3	—		0	0	4	4
XP120BR	G	36	36	Caucasian	ND	c.2453C > T	p.Ala818Val	c.1753G > T	p.Glu585TER	3	—		0	0	1	4
XP119BR	G	38	38	Caucasian	ND	c.2453C > T	p.Ala818Val	c.1753G > T	p.Glu585TER	3	20	BCC	0	1	3	4
XP101BR	G	68	64	Caucasian	14	c.869T > A	p.Ile290Asn			2	—		0	0	2	6

XP1NO	V	20	16	Caucasian	144	c.149dupT	p.Ser51fs			0	16	SCC	0	5	1	0
XP5B1	V	25	10	Caucasian	111	c.364A > C	p.Thr122Pro	c.1222_1225delACTT	p.Thr408fs	0	—		0	0	1	0
XP1CH	V	26	23	Caucasian	99	c.738delC	p.Phe247fs	c.1066C > T	p.Arg356X	0	22	MIS	1	0	2	0
XP110BR	V	27	24	Caucasian	87	c.738delC	p.Phe247fs	c.1066C > T	p.Arg356X	0	23	MM	3	0	3	0
XP136LO	V	54	53	Caucasian	91	c.25G > T >G	p.Val9Phe	c.490+3A	Splice	0	42	BCC	12	11	0	0
XP63BR	V	55	45	Caucasian	130	c.225_227delTCT	p.Leu77del	c.207delG	p.Lys70fs	0	38	BCC	15	>20	1	1
XP64BR	V	55	45	Mixed	144	c.437dupA	p.Tyr146X			0	—		0	0	3	0
XP115LO²⁵	V	62	24	Middle Eastern	100	c.1117C > T	p.Gln373X			0	21	SCC	17	16	5	0
XP85BR	V	62	56	Caucasian	90	c.790G > C	p.Ala264Pro	c.490+3A > G	Splice	0	44	BCC	0	120	3	0
XP36BR	V	67	44	Caucasian	99	c.332G > A	p.Arg111His	c.1222_1225delACTT	p.Thr408fs	0	33	MM	10	>10	4	0
XP36BR-S	V	71	48	Caucasian	99	c.332G > A	p.Arg111His	c.1222_1225delACTT	p.Thr408fs	0	44	MM	13	21	1	0
XP6DU	V	75	72	Caucasian	100	c.225_227delTCT	p.Leu77del	c.207delG	p.Lys70fs	1	39	MM	>8	>30	2	0

UDS is measured, after a UVC dose of 10 J⋅m⁻², as percent of that in normal cells used as control in the same experiment. Other abbreviations as in Table 1.

^{^†}

Where no second allele is indicated, the mutation is homozygous.