The UMD-CFTR mutations database
102 patients with a substitution leading to a premature TGA codon

Variation type	Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
Mutation (2)	p.Arg75X	c.223C>T	3	75	N tail		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2656 FR001-04085-01211 Male Heterozygous - CF 1 3473 FR001-01023-00200 Male Heterozygous - CF 0
Mutation (51)	p.Gly542X	c.1624G>T	12	542	NBD1		Small rearrangement	Tv	G->T	51
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2256 FR001-03657-01053 Male Heterozygous - CBAVD 1 2984 FR001-00000-00740 Female Heterozygous - CF 0 2978 FR001-02956-00797 Unknown Heterozygous - CF 0 2206 FR001-03719-01073 Male Heterozygous - CBAVD 1 2266 FR001-03499-00996 Male Heterozygous - CBAVD 1 2812 FR001-04721-01446 Male Heterozygous - CBAVD 1 2772 FR001-04728-01447 Male Heterozygous - CBAVD 1 2647 FR001-03995-01169 Female Heterozygous - CF 1 2926 FR001-04035-01189 Male Heterozygous - CF 0 530 FR001-03350-00941 Male Heterozygous - CBAVD 1 2317 FR001-00050-00006 Female Homozygous - CF 1 2500 FR001-00906-00170 Male Heterozygous - CF 1 3641 FR001-05234-01648 Male Heterozygous - CF 0 2478 FR001-00797-00147 Female Heterozygous - CF 1 973 FR001-03469-00985 Male Heterozygous - CBAVD 1 2472 FR001-00756-00137 Male Heterozygous - CF 1 2390 FR001-00703-00127 Male Heterozygous - CF 1 2688 FR001-04662-01430 Female Heterozygous - CF 1 2924 FR001-04039-01191 Male Heterozygous - CF 0 2377 FR001-00322-00066 Female Heterozygous - CF 1 1235 FR001-03540-01009 Male Heterozygous - CBAVD 1 2373 FR001-00284-00058 Female Heterozygous - CF 1 2584 FR001-02209-00522 Male Heterozygous - CF 1 1946 FR001-04003-01173 Male Heterozygous - CBAVD 1 2371 FR001-00273-00058 Female Heterozygous - CF 1 2560 FR001-01855-00419 Male Heterozygous - CF 1 1729 FR001-03680-01062 Male Heterozygous - CBAVD 1 2330 FR001-00099-00019 Male Heterozygous - CF 1 2361 FR001-00228-00044 Male Heterozygous - CF 1 2922 FR001-04040-01191 Female Heterozygous - CF 0 2356 FR001-00201-00038 Male Heterozygous - CF 1 2349 FR001-00196-00035 Male Heterozygous - CF 1 3002 FR001-02658-00692 Female Heterozygous - CF 0 3011 FR001-02577-00658 Female Heterozygous - CF 0 3145 FR001-01947-00450 Male Heterozygous - CF 0 3148 FR001-01935-00446 Female Heterozygous - CF 0 3175 FR001-01863-00424 Female Heterozygous - CF 0 3186 FR001-01849-00415 Male Heterozygous - CF 0 3257 FR001-01670-00356 Female Heterozygous - CF 0 3263 FR001-01636-00345 Male Heterozygous - CF 0 3325 FR001-01434-00287 Female Heterozygous - CF 0 3358 FR001-01270-00248 Female Heterozygous - CF 0 3364 FR001-01708-00377 Male Heterozygous - CF 0 3368 FR001-00094-00017 Male Heterozygous - CF 0 3370 FR001-00108-00020 Male Heterozygous - CF 0 3373 FR001-00160-00033 Male Heterozygous - CF 0 3404 FR001-00498-00092 Male Heterozygous - CF 0 3410 FR001-00000-00101 Male Heterozygous - CF 0 3440 FR001-00678-00122 Male Heterozygous - CF 0 3484 FR001-01070-00212 Female Heterozygous - CF 0 3486 FR001-01182-00217 Female Heterozygous - CF 0
Mutation (8)	p.Arg553X	c.1657C>T	12	553	NBD1		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2645 FR100-00000-01128 Female Heterozygous - CF 1 2475 FR001-00781-00144 Male Heterozygous - CF 1 2878 FR001-04544-01376 Male Heterozygous - CF 0 131 FR001-03262-00903 Male Heterozygous - CBAVD 1 3077 FR001-02373-00578 Male Heterozygous - CF 0 3135 FR001-01980-00459 Male Heterozygous - CF 0 3191 FR001-01816-00409 Female Heterozygous - CF 0 3462 FR001-00980-00184 Female Heterozygous - CF 0
Mutation (1)	p.Arg709X	c.2125C>T	14	709	R		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3254 FR001-01676-00358 Female Heterozygous - CF 0
Mutation (3)	p.Leu732X	c.2195T>G	14	732	R		Small rearrangement	Tv	T->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2881 FR001-04540-01373 Male Heterozygous - CF 0 3185 FR001-01849-00415 Male Heterozygous - CF 0 3256 FR001-00000-00357 Male Heterozygous - CF 0
Mutation (2)	p.Arg764X	c.2290C>T	14	764	R		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 629 FR001-03394-00951 Male Heterozygous - CBAVD 1 2822 FR001-05046-01579 Male Heterozygous - CF 0
Mutation (1)	p.Ser776X	c.2327C>G	14	776	R		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3296 FR001-01552-00312 Female Heterozygous - CF 0
Mutation (4)	p.Arg792X	c.2374C>T	14	792	R		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3003 FR001-02658-00692 Female Heterozygous - CF 0 3146 FR001-01947-00450 Male Heterozygous - CF 0 3286 FR001-01560-00319 Female Heterozygous - CF 0 3444 FR001-00711-00129 Female Heterozygous - CF 0
Mutation (1)	p.Cys832X	c.2496C>A	15	832	R		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2876 FR001-04575-01389 Female Heterozygous - CF 0
Mutation (2)	p.Trp846X	c.2538G>A	15	846	IC		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2910 FR001-04181-01241 Male Heterozygous - CF 0 2599 FR001-02396-00591 Male Heterozygous - CF 1
Mutation (1)	p.Arg851X	c.2551C>T	15	851	IC		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2678 FR001-04401-01322 Female Heterozygous - CF 1
Mutation (1)	p.Trp1063X	c.3189G>A	20	1063	CL4		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3173 FR001-01864-00425 Female Heterozygous - CF 0
Mutation (1)	p.Arg1102X	c.3304A>T	20	1102	CL4		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2634 FR001-03760-01077 Female Heterozygous - CF 1
Mutation (2)	p.Arg1158X	c.3472C>T	22	1158	IC		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2486 FR001-00829-00155 Male Homozygous - CF 1 2370 FR001-00250-00050 Female Heterozygous - CF 1
Mutation (7)	p.Arg1162X	c.3484C>T	22	1162	IC		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2382 FR001-00421-00081 Female Heterozygous - CF 1 2527 FR001-00000-00235 Female Homozygous - CF 1 2470 FR001-00751-00136 Female Heterozygous - CF 1 896 FR001-03453-00977 Male Heterozygous - CBAVD 1 2859 FR001-05000-01561 Female Heterozygous - CF 0 2884 FR001-04509-01360 Male Heterozygous - CF 0 2896 FR001-04333-01300 Female Heterozygous - CF 0
Mutation (1)	p.Trp1274X	c.3822G>A	23	1274	NBD2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3806 FR001-05115-01598 Female Heterozygous - CF 0
Mutation (14)	p.Trp1282X	c.3846G>A	23	1282	NBD2		Small rearrangement	Ts	G->A	14
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2506 FR001-00942-00175 Male Heterozygous - CF 1 2504 FR001-00940-00175 Female Heterozygous - CF 1 2484 FR001-00826-00154 Female Heterozygous - CF 1 2899 FR001-04295-01290 Female Heterozygous - CF 0 3575 FR001-05316-01680 Male Heterozygous - CBAVD 0 2879 FR001-04544-01376 Male Heterozygous - CF 0 2937 FR001-03880-01130 Female Heterozygous - CF 0 308 FR001-03302-00921 Male Heterozygous - CBAVD 1 3550 FR001-05177-01625 Male Heterozygous - CBAVD 0 3323 FR001-01444-00290 Female Heterozygous - CF 0 3333 FR001-01392-00275 Female Heterozygous - CF 0 3335 FR001-00000-00273 Male Homozygous - CF 0 3336 FR001-01385-00272 Male Homozygous - CF 0 3349 FR001-00000-00256 Unknown Homozygous - CF 0