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. Author manuscript; available in PMC: 2011 Feb 27.
Published in final edited form as: J Invest Dermatol. 2010 Nov 18;131(2):480–486. doi: 10.1038/jid.2010.331

TABLE 1.

Total Failed
reaction		 Samples
scored		 Total
variants		 1–8dup8
mutations
(not in
assay)		 Unprobed
variants		 Probed
variants		 Correct
variants
scored		 Missed
variants		 Total SNPs
interrogated		 SNPs
assigned
correctly
Toronto 1040 22 1005 158 13 0 145 145 0 39195 39195
Barcelona 46 9 37 25 2 7a 16 16 0 1443 1443
NCI-US 62 1 61 43 3 4b 36 33 3h 2379 2376
NCI-Italy 12 1 11 5 0 2c 3 3 0 429 429
Genoa 14 2 12 13 0 2d 11 11 0 468 468
Leiden 25 1 24 10 0 2e 8 8 0 936 936
Queensland 150 10 140 35 3 8f 24 24 0 5460 5460
Leeds 226 6 220 57 7 0 50 50 0 8580 8580
Boston 93 0 93 12 2 3g 7 5 2i 3627 3625
Validation 628 30 598 200 17 28 155 150 5 23322 23317
0.9677 0.9997
Total 1668 52 1603 358 30 28 300 295 5 62517 62512
0.9833 0.9999

Affected variants:

a

p.D84Y, p.L65P, p.R87W (4), p.V59G

b

p.N71S (2), p.R58X (2)

c

p.L65P (2)

d

p.R58X (2)

e

p.G23R (2)

f

p.L16P (2), p.L32P (2), p.Q50R (2), p.V51F (2)

g

p.W15X (2), p.A60T

h

c.241_254del14 (2), c.IVS2+1G>T

i

p.A148T(2)