The UMD-CFTR mutations database
36 patients with a substitution leading to a premature TAA codon

Variation type	Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
Mutation (5)	p.Tyr122X	c.366T>A	4	122	TM2		Small rearrangement	Tv	T->A	5
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2660 FR001-04127-01224 Male Heterozygous - CF 1 2480 FR001-00800-00148 Male Heterozygous - CF 1 1974 FR001-04184-01242 Male Heterozygous - CBAVD 1 2334 FR001-01257-00022 Male Heterozygous - CF 1 2332 FR001-00115-00022 Male Heterozygous - CF 1
Mutation (1)	p.Ser489X	c.1466C>A	11	489	NBD1		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2041 FR001-04517-01363 Male Heterozygous - CBAVD 1
Mutation (4)	p.Glu585X	c.1753G>T	13	585	NBD1		Small rearrangement	Tv	G->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2980 FR001-02930-00789 Male Heterozygous - CF 0 2508 FR001-00961-00180 Male Heterozygous - CF 1 3012 FR001-02577-00658 Female Heterozygous - CF 0 3414 FR001-00000-00103 Female Heterozygous - CF 0
Mutation (2)	p.Glu656X	c.1966G>T	14	656	R		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3107 FR001-02161-00503 Female Heterozygous - CF 0 3270 FR001-01617-00340 Male Heterozygous - CF 0
Mutation (6)	p.Lys710X	c.2128A>T	14	710	R		Small rearrangement	Tv	A->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2974 FR001-03003-00815 Male Heterozygous - CF 0 2619 FR001-02943-00795 Male Heterozygous - CF 1 432 FR001-03323-00933 Male Heterozygous - CBAVD 1 2329 FR001-00080-00013 Female Heterozygous - CF 1 3375 FR001-00221-00042 Female Heterozygous - CF 0 3398 FR001-00000-00080 Female Heterozygous - CF 0
Mutation (1)	p.Gln890X	c.2668C>T	17	890	EC		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3105 FR001-02162-00504 Female Heterozygous - CF 0
Mutation (1)	p.Gln1042X	c.3124C>T	19	1042	CL4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2938 FR001-03877-01129 Unknown Heterozygous - CF 0
Mutation (10)	p.Tyr1092X	c.3276C>A	20	1092	CL4		Small rearrangement	Tv	C->A	10
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2538 FR001-01456-00291 Female Heterozygous - CF 1 2536 FR001-01455-00291 Female Heterozygous - CF 1 2846 FR001-04652-01419 Female Heterozygous - CF 0 2603 FR100-02465-00618 Female Heterozygous - CF 1 328 FR001-03303-00922 Male Heterozygous - CBAVD 1 3112 FR001-00000-00494 Female Heterozygous - CF 0 3202 FR001-01770-00400 Male Heterozygous - CF 0 3238 FR001-01702-00370 Female Heterozygous - CF 0 3392 FR001-00347-00071 Male Heterozygous - CF 0 3406 FR001-00508-00093 Male Heterozygous - CF 0
Mutation (1)	p.Glu1104X	c.3310G>T	20	1104	TM11		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2609 FR001-02769-00732 Female Homozygous - CF 1
Mutation (1)	p.Ser1206X	c.3617C>A	22	1206	IC		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2944 FR001-03806-01103 Female Heterozygous - CF 0
Mutation (1)	p.Gln1313X	c.3937C>T	24	1313	NBD2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2321 FR001-00056-00008 Female Heterozygous - CF 1
Mutation (1)	p.Gln1382X	c.4144C>T	26	1382	NBD2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3242 FR001-01699-00367 Female Heterozygous - CF 0
Mutation (1)	p.Gln1390X	c.4168C>T	26	1390	NBD2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2841 FR001-04909-01523 Female Homozygous - CF 0
Mutation (1)	p.Gln1476X	c.4426C>T	27	1476	C tail		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1115 FR001-03503-00998 Male Heterozygous - CBAVD 1