TABLE 2.

PCFT clones in which a single loss-of-function mutation could be readily identified

Clonea	Number of mutations in each clone	Inactive mutation at cDNA level	Corresponding mutation at protein level
1–70	2	c. 1A>C	M1L (no initiation codon)
5–28	3	c. 3G>A	M1I (no initiation codon)
5–46	7	c. 4delGb	p. E2Rfs
5–34	4	c. 4–5insGb	p. E2Gfs
5–136	3	c. 9–10InsGb	p. S4Efs
5–22	3	c. 10delA	p. S4Afs
5–3	5	c. 177–181delCACCC	p. T60Pfs
1–52	5	c. 194delGb	p. G65Afsc
5–76	2	c. 194–195insGb	p. C66Lfsc
5–11	6	c. 275delGb	p. G92Afs
5–133	7	c. 335delGb	p. G112Afs
5–124	4	c. 639G>A	p. W213X
5–78	2	c. 690delTb	p. F230Lfs
5–58	4	c. 918T>A	p. Y306X
1–46	4	c. 952A>C	p. S318Rc
5–33	5	c.1020delCb	p. F341Sfs
1–9	2	c.1091T>A	p. L364X
1–74	3	c. 1127G>A	p. R376Qc
5–88	3	c. 1264A>T	p. K422X

^a Clones listed according to the position of the inactivating mutation in the cDNA.

^b Whenever one of the consecutive-same nucleotides was deleted or inserted, the last nucleotide is numbered.

^c Known, reported, HFM mutations (2, 6, 10).