The UMD-CFTR mutations database
12 patients with a substitution leading to a premature TAG codon

Variation type	Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
Mutation (3)	p.Ser4X	c.11C>A	1	4	N tail		Small rearrangement	Tv	C->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3220 FR001-01736-00386 Female Heterozygous - CF 0 3347 FR001-01310-00257 Male Heterozygous - CF 0 3354 FR001-01279-00250 Male Heterozygous - CF 0
Mutation (1)	p.Glu60X	c.178G>T	3	60	N tail		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3194 FR001-01815-00408 Female Heterozygous - CF 0
Mutation (4)	p.Gln220X	c.658C>T	6	220	EC		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2969 FR001-03118-00852 Male Heterozygous - CF 0 2354 FR001-00199-00037 Female Heterozygous - CF 1 3233 FR001-01704-00372 Male Heterozygous - CF 0 3326 FR001-01434-00287 Female Heterozygous - CF 0
Mutation (2)	p.Gln493X	c.1477C>T	11	493	NBD1		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1931 FR001-03907-01138 Male Heterozygous - CBAVD 1 2929 FR001-03975-01163 Female Heterozygous - CF 0
Mutation (1)	p.Glu664X	c.1990G>T	14	664	R		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3109 FR001-02160-00502 Male Heterozygous - CF 0
Mutation (1)	p.Lys830X	c.2488A>T	14	830	R		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2590 FR001-02277-00537 Male Heterozygous - CF 1