TABLE 2.

Nomenclature for CHA0 mutations and variants and their frequency/cycle in each respective population

Line	Locus tag	Gene name	DNA sequence changea	Amino acid change (three-letter code)b	Standard nomenclature (used in text)	Frequency in the population (x/6)c
						Cycle 2	Cycle 4	Cycle 6	HRM
1	PFLCHA0_RS09890	oafA	c.1005C>A	p.Tyr335X	Y335X	4/6	6/6	6/6
1	PFLCHA0_RS17350	RS17350	c.230delC	p.Ala77Ala.fsX14	A77A.fsX14	2/6	6/6	6/6
1	PFLCHA0_RS17965	gacA	c.145G>T	p.Asp49Tyr	D49Y		2/6	4/6
						9.2%	19.1%	46.7%	x
1	PFLCHA0_RS21855	wbpM	c.235G>C	p.Gly79Arg	G79R		1/6
1	PFLCHA0_RS21275	RS21275	c.233G>T	p.Arg78Leu	R78L		1/6
1	PFLCHA0_RS21265	pvdS	c.-33T>C	NA	-33T>C			1/6
1	PFLCHA0_RS30075	sadB	c.548G>C	p.Arg183Pro	R183P			1/6
1			c.773T>A	p.Leu258Gln	L258Q			2/6
2	PFLCHA0_RS17965	gacA	c.548A>C	p.Tyr183Ser	Y183S	2/6	1/6
2	PFLCHA0_RS09920	galE	c.94G>A	p.Val32Met	V32M	2/6	5/6	6/6
2	PFLCHA0_RS30120	tssM	c.1336C>T	p.Leu446Leu	1336C>T	1/6
2	PFLCHA0_RS03400	accC	c.1237G>A	p.Glu413Lys	E413K		4/6	6/6
2	PFLCHA0_RS13000	yvaQ2	c.-9G>T	NA	-9G>T		1/6
2	PFLCHA0_RS17965	gacA	c.160G>T	p.As54Tyr	D54Y			2/6
						5.5%	4.5%	15.5%	x
2	PFLCHA0_RS17965	gacA	c.289G>A	p.Gly97Ser	G97S			3/6
2	PFLCHA0_RS25175	mraZ	c.-211A>G	NA	-211A>G			2/6
2	PFLCHA0_RS26215	osmY	c.-104G>A	NA	-104G>A			1/6
3	PFLCHA0_RS09890	oafA	c.1013delA	p.Lys338Ser.fsX18	K338S.fsX18	1/6	5/6	6/6
3	PFLCHA0_RS22600	gacS	c.80G>A	p.Gly27Asp	G27D		1/6	4/6
						3.8%	19.9%	75.6%	x
3	PFLCHA0_RS31060	nlpD	c.590A>C	p.Gln197Pro	Q197P		1/6
4	PFLCHA0_RS22950	argT5	c.120-533del	p.Lys40-Leu185del.fsX6	ΔargT5	2/6
4	PFLCHA0_RS02080	hutI	c.786C>T	p.Phe262Phe	786C>T	1/6
4	PFLCHA0_RS17965	gacA	c.-40T>A	NA	-40T>A		2/6	1/4
4	PFLCHA0_RS17965	gacA	c.112G>T	p.E38X	E38X		2/6	3/4
4	PFLCHA0_RS05510	nudL	c.288C>T	p.Ser96Ser	288C>T		1/6
4	PFLCHA0_RS11820	RS11820	c.33C>T	p.Ala11Ala	33C>T		1/6
4	PFLCHA0_RS08490	flhA	c.1176delT	p.His393Gln.fsX15	H393Q.fsX15			3/4
4	PFLCHA0_RS11785	RS11785	c.766A>T	p.Ser256Cys	S256C			3/4
4	PFLCHA0_RS27515	rpsH	c.-90C>G	NA	-90C>G			1/4
5	PFLCHA0_RS18525	RS18525	c.254delT	p.Val85Gly.fsX40	V85G.fsX40	1/6
5	PFLCHA0_RS06125	rpoS	c.193C>T	p.Gln65X	Q65X		1/6	4/6
5	PFLCHA0_RS08340	fleQ	c.959G>A	p.Arg320Gln	R320Q			1/6
5	PFLCHA0_RS14960	tetR	c.381C>G	p.Tyr127X	Y127X			2/6
5	PFLCHA0_RS09880	RS09880	c.246C>A	p.Tyr82X	Y82X			1/6
5	PFLCHA0_RS12070	RS12070	c.1389C>G	p.Pro463Pro	1389C>G			1/6

^aDNA sequence change positions are relative to the cDNA (c). del, deletion. Mutations upstream of the transcription start site (TSS) are preceded by a dash to indicate the position relative to the TSS.

^bX, stop codon (at its relative position in case of a shifted frame); fs, frameshift; p., amino acid substitution relative to the protein; NA, not applicable.

^cPercentages represent the frequency of the selected (indicated by x) mutation in the population as determined by PCR-based high-resolution melt (HMR) analysis.