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. 2010 Nov 23;5(11):e14096. doi: 10.1371/journal.pone.0014096

Table 2. Controls used in this work.

	qPCR-HRM						SQF-PCR
	HRM (Qualitative)			qPCR (Quantitative)			(Semi-Quantitative)
Validation Set
Negative Controls	N = 48	Wild-type DNAs		N = 10	Asymptomatic individual		N = 10	Asymptomatic individual
Positive Controls	N = 49	DNAs with known punctual mutations:		N = 3	DNAs with or mimicking a CNV^†:		N = 1	DNA with a deletion
		MVK (N = 19)	p.S52N⁽¹⁾⁽²⁾,c.371+8C>T⁽¹⁾⁽²⁾, p.S135L⁽¹⁾, p.S135S⁽¹⁾, p.D170D⁽¹⁾⁽²⁾,c.632−18A>G ⁽¹⁾⁽²⁾, c.769-7_769-6dupT⁽¹⁾ ^*,c.885+24G>A⁽¹⁾⁽²⁾, p.G309S⁽¹⁾, p.S329N⁽¹⁾, p.V377I⁽¹⁾⁽²⁾, p.R388X⁽¹⁾, p.E296GfsX14⁽¹⁾		MVK (N = 1)	Chr12q24.1del		MVK (N = 1)	Chr12q24.1del
		NLRP3 (N = 23)	c.278−45T>C⁽¹⁾, p.Y141Y⁽¹⁾ ^, p.R168Q⁽³⁾, p.V198M⁽¹⁾, p.T219T⁽¹⁾, p.A242A⁽¹⁾⁽²⁾ ^, p.P340P⁽¹⁾⁽³⁾, p.L344L⁽¹⁾⁽³⁾, p.A439P⁽¹⁾, p.H463H⁽¹⁾, p.T587I⁽¹⁾, p.Q703K⁽¹⁾⁽²⁾, p.Y859C⁽¹⁾,c.3005+25C>T⁽¹⁾, p.T348M⁽¹⁾, p.L411L⁽³⁾, p.S434S⁽¹⁾⁽²⁾, p.T436P⁽³⁾		NLRP3 (N = 1)	p.T348M artificial deletion (allele specific primer)
		TNFRSF1A (N = 7)	p.C30R⁽¹⁾, p.C30F⁽¹⁾, p.C73W⁽¹⁾, p.H69fs⁽¹⁾, p.E54E⁽¹⁾, p.P46L⁽¹⁾, p.R92Q⁽¹⁾		ITGB5 (N = 1)	Chr3q21.2dup
Study group
Negative Controls	N = 1	Wild-type DNA		N = 1	Asymptomatic individual		N = 1	Asymptomatic individual
Positive Controls	N = 1	DNA with a known variation per exon tested where available		N = 1	DMD (Internal control)		N = 1	DMD (Internal control)

⁽¹⁾ heterozogote, ⁽²⁾ homozygote, ⁽³⁾ compound heterozygote.

*These polymorphisms were not detected by HRM.

^†

Copy number variation.