UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117602152_117612006del | CA325806 | CFTR | c.2620-674_3367+198del c.*2334-674_*3081+198del c.2437-674_3184+198del c.*920-674_*1667+198del c.*2444-674_*3191+198del c.2194-674_2941+198del c.211-674_958+198del c.270-674_1017+198del c.1402-674_2149+198del c.2530-674_3277+198del c.2710-674_3457+198del c.2377-674_3124+198del | |
| 7 | g.117602152_117612040del | CA2499218685 | CFTR | c.2620-674_3367+232del c.*2334-674_*3081+232del c.2437-674_3184+232del c.*920-674_*1667+232del c.*2444-674_*3191+232del c.2194-674_2941+232del c.211-674_958+232del c.270-674_1017+232del c.1402-674_2149+232del c.2530-674_3277+232del c.2710-674_3457+232del c.2377-674_3124+232del | ClinVar |
| 7 | g.117604867_117612068del | CA913190213 | CFTR | c.2908+1085_3367+260del c.*2622+1085_*3081+260del c.2725+1085_3184+260del c.*1208+1085_*1667+260del c.*2732+1085_*3191+260del c.2482+1085_2941+260del c.499+1085_958+260del c.558+1085_1017+260del c.1690+1085_2149+260del c.2818+1085_3277+260del c.2998+1085_3457+260del c.2665+1085_3124+260del | ClinVar |
| 7 | g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | CA2580076402 | CFTR | c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*2623-636_*3081+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*1209-636_*1667+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*2733-636_*3191+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2483-636_2941+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.500-636_958+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.559-636_1017+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.1691-636_2149+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2819-636_3277+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2999-636_3457+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2666-636_3124+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | ClinVar |
| 7 | g.117606676_117611810del | CA913190200 | CFTR | c.2911_3367+2del c.*2625_*3081+2del c.2728_3184+2del c.*1211_*1667+2del c.*2735_*3191+2del c.2485_2941+2del c.502_958+2del c.561_1017+2del c.1693_2149+2del c.2821_3277+2del c.3001_3457+2del c.2668_3124+2del | ClinVar |
| 7 | g.117607926_117616824del | CA1139532136 | CFTR | c.2988+1173_3468+2111del c.*2702+1173_*3182+2111del c.2805+1173_3285+2111del c.*1288+1173_*1843+2111del c.2988+1173_3462+2111del c.*2812+1173_*3292+2111del c.2562+1173_3042+2111del c.579+1173_1059+2111del c.638+1173_1118+2111del c.1770+1173_2250+2111del c.2898+1173_3378+2111del c.3078+1173_3558+2111del c.2745+1173_3225+2111del | |
| 7 | g.117608369_117612164delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC | CA2580076408 | CFTR | c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*2702+1616_*3081+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2805+1616_3184+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*1288+1616_*1667+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*2812+1616_*3191+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2562+1616_2941+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.579+1616_958+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.638+1616_1017+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.1770+1616_2149+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2898+1616_3277+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.3078+1616_3457+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2745+1616_3124+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC | ClinVar |
| 7 | g.117609542_117612056del | CA325807 | CFTR | c.2989-977_3367+248del c.*2703-977_*3081+248del c.2806-977_3184+248del c.*1289-977_*1667+248del c.*2813-977_*3191+248del c.2563-977_2941+248del c.580-977_958+248del c.639-977_1017+248del c.1771-977_2149+248del c.2899-977_3277+248del c.3079-977_3457+248del c.2746-977_3124+248del | ClinVar |
| 7 | g.117609611_117610615delinsGACAG | CA915945433 | CFTR | c.2989-908_3085delinsGACAG c.*2703-908_*2799delinsGACAG c.2806-908_2902delinsGACAG c.*1289-908_*1385delinsGACAG c.*2813-908_*2909delinsGACAG c.2563-908_2659delinsGACAG c.580-908_676delinsGACAG c.639-908_735delinsGACAG c.1771-908_1867delinsGACAG c.2899-908_2995delinsGACAG c.3079-908_3175delinsGACAG c.2746-908_2842delinsGACAG | ClinVar |
| 7 | g.117610478G>T | CA2684588285 | CFTR | c.2989-41G>T (n.2989-41G>T) c.*2703-41G>T (n.*2703-41G>T) c.2806-41G>T (n.2806-41G>T) c.*1289-41G>T (n.*1289-41G>T) c.*2813-41G>T (n.*2813-41G>T) c.2563-41G>T (n.2563-41G>T) c.580-41G>T (n.580-41G>T) c.639-41G>T c.1771-41G>T (n.1771-41G>T) c.2899-41G>T (n.2899-41G>T) c.3079-41G>T (n.3079-41G>T) c.2746-41G>T (n.2746-41G>T) | gnomAD v4 |
| 7 | g.117610479A>G | CA2684588286 | CFTR | c.2989-40A>G (n.2989-40A>G) c.*2703-40A>G (n.*2703-40A>G) c.2806-40A>G (n.2806-40A>G) c.*1289-40A>G (n.*1289-40A>G) c.*2813-40A>G (n.*2813-40A>G) c.2563-40A>G (n.2563-40A>G) c.580-40A>G (n.580-40A>G) c.639-40A>G c.1771-40A>G (n.1771-40A>G) c.2899-40A>G (n.2899-40A>G) c.3079-40A>G (n.3079-40A>G) c.2746-40A>G (n.2746-40A>G) | gnomAD v4 |
| 7 | g.117610482A= | CA1737384576 | CFTR | c.2989-37A= (n.2989-37A=) c.*2703-37A= (n.*2703-37A=) c.2806-37A= (n.2806-37A=) c.*1289-37A= (n.*1289-37A=) c.*2813-37A= (n.*2813-37A=) c.2563-37A= (n.2563-37A=) c.580-37A= (n.580-37A=) c.639-37A= c.1771-37A= (n.1771-37A=) c.2899-37A= (n.2899-37A=) c.3079-37A= (n.3079-37A=) c.2746-37A= (n.2746-37A=) | |
| 7 | g.117610482A>G | CA577680822 | CFTR | c.2989-37A>G (n.2989-37A>G) c.*2703-37A>G (n.*2703-37A>G) c.2806-37A>G (n.2806-37A>G) c.*1289-37A>G (n.*1289-37A>G) c.*2813-37A>G (n.*2813-37A>G) c.2563-37A>G (n.2563-37A>G) c.580-37A>G (n.580-37A>G) c.639-37A>G c.1771-37A>G (n.1771-37A>G) c.2899-37A>G (n.2899-37A>G) c.3079-37A>G (n.3079-37A>G) c.2746-37A>G (n.2746-37A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610483T>C | CA2715454611 | CFTR | c.2989-36T>C (n.2989-36T>C) c.*2703-36T>C (n.*2703-36T>C) c.2806-36T>C (n.2806-36T>C) c.*1289-36T>C (n.*1289-36T>C) c.*2813-36T>C (n.*2813-36T>C) c.2563-36T>C (n.2563-36T>C) c.580-36T>C (n.580-36T>C) c.639-36T>C c.1771-36T>C (n.1771-36T>C) c.2899-36T>C (n.2899-36T>C) c.3079-36T>C (n.3079-36T>C) c.2746-36T>C (n.2746-36T>C) | dbSNP |
| 7 | g.117610484G>A | CA4451354 | CFTR | c.2989-35G>A (n.2989-35G>A) c.*2703-35G>A (n.*2703-35G>A) c.2806-35G>A (n.2806-35G>A) c.*1289-35G>A (n.*1289-35G>A) c.*2813-35G>A (n.*2813-35G>A) c.2563-35G>A (n.2563-35G>A) c.580-35G>A (n.580-35G>A) c.639-35G>A c.1771-35G>A (n.1771-35G>A) c.2899-35G>A (n.2899-35G>A) c.3079-35G>A (n.3079-35G>A) c.2746-35G>A (n.2746-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610484G= | CA1737384579 | CFTR | c.2989-35G= (n.2989-35G=) c.*2703-35G= (n.*2703-35G=) c.2806-35G= (n.2806-35G=) c.*1289-35G= (n.*1289-35G=) c.*2813-35G= (n.*2813-35G=) c.2563-35G= (n.2563-35G=) c.580-35G= (n.580-35G=) c.639-35G= c.1771-35G= (n.1771-35G=) c.2899-35G= (n.2899-35G=) c.3079-35G= (n.3079-35G=) c.2746-35G= (n.2746-35G=) | |
| 7 | g.117610487del | CA2502589344 | CFTR | c.2989-32del (n.2989-32del) c.*2703-32del (n.*2703-32del) c.2806-32del (n.2806-32del) c.*1289-32del (n.*1289-32del) c.*2813-32del (n.*2813-32del) c.2563-32del (n.2563-32del) c.580-32del (n.580-32del) c.639-32del c.1771-32del (n.1771-32del) c.2899-32del (n.2899-32del) c.3079-32del (n.3079-32del) c.2746-32del (n.2746-32del) | gnomAD v4 |
| 7 | g.117610488A>T | CA2777587985 | CFTR | c.2989-31A>T (n.2989-31A>T) c.*2703-31A>T (n.*2703-31A>T) c.2806-31A>T (n.2806-31A>T) c.*1289-31A>T (n.*1289-31A>T) c.*2813-31A>T (n.*2813-31A>T) c.2563-31A>T (n.2563-31A>T) c.580-31A>T (n.580-31A>T) c.639-31A>T c.1771-31A>T (n.1771-31A>T) c.2899-31A>T (n.2899-31A>T) c.3079-31A>T (n.3079-31A>T) c.2746-31A>T (n.2746-31A>T) | |
| 7 | g.117610489C>A | CA2684588287 | CFTR | c.2989-30C>A (n.2989-30C>A) c.*2703-30C>A (n.*2703-30C>A) c.2806-30C>A (n.2806-30C>A) c.*1289-30C>A (n.*1289-30C>A) c.*2813-30C>A (n.*2813-30C>A) c.2563-30C>A (n.2563-30C>A) c.580-30C>A (n.580-30C>A) c.639-30C>A c.1771-30C>A (n.1771-30C>A) c.2899-30C>A (n.2899-30C>A) c.3079-30C>A (n.3079-30C>A) c.2746-30C>A (n.2746-30C>A) | gnomAD v4 |
| 7 | g.117610489C= | CA1737384582 | CFTR | c.2989-30C= (n.2989-30C=) c.*2703-30C= (n.*2703-30C=) c.2806-30C= (n.2806-30C=) c.*1289-30C= (n.*1289-30C=) c.*2813-30C= (n.*2813-30C=) c.2563-30C= (n.2563-30C=) c.580-30C= (n.580-30C=) c.639-30C= c.1771-30C= (n.1771-30C=) c.2899-30C= (n.2899-30C=) c.3079-30C= (n.3079-30C=) c.2746-30C= (n.2746-30C=) | |
| 7 | g.117610489C>G | CA577680823 | CFTR | c.2989-30C>G (n.2989-30C>G) c.*2703-30C>G (n.*2703-30C>G) c.2806-30C>G (n.2806-30C>G) c.*1289-30C>G (n.*1289-30C>G) c.*2813-30C>G (n.*2813-30C>G) c.2563-30C>G (n.2563-30C>G) c.580-30C>G (n.580-30C>G) c.639-30C>G c.1771-30C>G (n.1771-30C>G) c.2899-30C>G (n.2899-30C>G) c.3079-30C>G (n.3079-30C>G) c.2746-30C>G (n.2746-30C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610489C>T | CA4451355 | CFTR | c.2989-30C>T (n.2989-30C>T) c.*2703-30C>T (n.*2703-30C>T) c.2806-30C>T (n.2806-30C>T) c.*1289-30C>T (n.*1289-30C>T) c.*2813-30C>T (n.*2813-30C>T) c.2563-30C>T (n.2563-30C>T) c.580-30C>T (n.580-30C>T) c.639-30C>T c.1771-30C>T (n.1771-30C>T) c.2899-30C>T (n.2899-30C>T) c.3079-30C>T (n.3079-30C>T) c.2746-30C>T (n.2746-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610491C>A | CA2684588288 | CFTR | c.2989-28C>A (n.2989-28C>A) c.*2703-28C>A (n.*2703-28C>A) c.2806-28C>A (n.2806-28C>A) c.*1289-28C>A (n.*1289-28C>A) c.*2813-28C>A (n.*2813-28C>A) c.2563-28C>A (n.2563-28C>A) c.580-28C>A (n.580-28C>A) c.639-28C>A c.1771-28C>A (n.1771-28C>A) c.2899-28C>A (n.2899-28C>A) c.3079-28C>A (n.3079-28C>A) c.2746-28C>A (n.2746-28C>A) | gnomAD v4 |
| 7 | g.117610491C= | CA1737384586 | CFTR | c.2989-28C= (n.2989-28C=) c.*2703-28C= (n.*2703-28C=) c.2806-28C= (n.2806-28C=) c.*1289-28C= (n.*1289-28C=) c.*2813-28C= (n.*2813-28C=) c.2563-28C= (n.2563-28C=) c.580-28C= (n.580-28C=) c.639-28C= c.1771-28C= (n.1771-28C=) c.2899-28C= (n.2899-28C=) c.3079-28C= (n.3079-28C=) c.2746-28C= (n.2746-28C=) | |
| 7 | g.117610491C>T | CA4451356 | CFTR | c.2989-28C>T (n.2989-28C>T) c.*2703-28C>T (n.*2703-28C>T) c.2806-28C>T (n.2806-28C>T) c.*1289-28C>T (n.*1289-28C>T) c.*2813-28C>T (n.*2813-28C>T) c.2563-28C>T (n.2563-28C>T) c.580-28C>T (n.580-28C>T) c.639-28C>T c.1771-28C>T (n.1771-28C>T) c.2899-28C>T (n.2899-28C>T) c.3079-28C>T (n.3079-28C>T) c.2746-28C>T (n.2746-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610493C>A | CA2684588289 | CFTR | c.2989-26C>A (n.2989-26C>A) c.*2703-26C>A (n.*2703-26C>A) c.2806-26C>A (n.2806-26C>A) c.*1289-26C>A (n.*1289-26C>A) c.*2813-26C>A (n.*2813-26C>A) c.2563-26C>A (n.2563-26C>A) c.580-26C>A (n.580-26C>A) c.639-26C>A c.1771-26C>A (n.1771-26C>A) c.2899-26C>A (n.2899-26C>A) c.3079-26C>A (n.3079-26C>A) c.2746-26C>A (n.2746-26C>A) | gnomAD v4 |
| 7 | g.117610493C= | CA1737384588 | CFTR | c.2989-26C= (n.2989-26C=) c.*2703-26C= (n.*2703-26C=) c.2806-26C= (n.2806-26C=) c.*1289-26C= (n.*1289-26C=) c.*2813-26C= (n.*2813-26C=) c.2563-26C= (n.2563-26C=) c.580-26C= (n.580-26C=) c.639-26C= c.1771-26C= (n.1771-26C=) c.2899-26C= (n.2899-26C=) c.3079-26C= (n.3079-26C=) c.2746-26C= (n.2746-26C=) | |
| 7 | g.117610493C>T | CA4451357 | CFTR | c.2989-26C>T (n.2989-26C>T) c.*2703-26C>T (n.*2703-26C>T) c.2806-26C>T (n.2806-26C>T) c.*1289-26C>T (n.*1289-26C>T) c.*2813-26C>T (n.*2813-26C>T) c.2563-26C>T (n.2563-26C>T) c.580-26C>T (n.580-26C>T) c.639-26C>T c.1771-26C>T (n.1771-26C>T) c.2899-26C>T (n.2899-26C>T) c.3079-26C>T (n.3079-26C>T) c.2746-26C>T (n.2746-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610494C>A | CA2684588290 | CFTR | c.2989-25C>A (n.2989-25C>A) c.*2703-25C>A (n.*2703-25C>A) c.2806-25C>A (n.2806-25C>A) c.*1289-25C>A (n.*1289-25C>A) c.*2813-25C>A (n.*2813-25C>A) c.2563-25C>A (n.2563-25C>A) c.580-25C>A (n.580-25C>A) c.639-25C>A c.1771-25C>A (n.1771-25C>A) c.2899-25C>A (n.2899-25C>A) c.3079-25C>A (n.3079-25C>A) c.2746-25C>A (n.2746-25C>A) | gnomAD v4 |
| 7 | g.117610494C= | CA1737384590 | CFTR | c.2989-25C= (n.2989-25C=) c.*2703-25C= (n.*2703-25C=) c.2806-25C= (n.2806-25C=) c.*1289-25C= (n.*1289-25C=) c.*2813-25C= (n.*2813-25C=) c.2563-25C= (n.2563-25C=) c.580-25C= (n.580-25C=) c.639-25C= c.1771-25C= (n.1771-25C=) c.2899-25C= (n.2899-25C=) c.3079-25C= (n.3079-25C=) c.2746-25C= (n.2746-25C=) | |
| 7 | g.117610494C>T | CA164964980 | CFTR | c.2989-25C>T (n.2989-25C>T) c.*2703-25C>T (n.*2703-25C>T) c.2806-25C>T (n.2806-25C>T) c.*1289-25C>T (n.*1289-25C>T) c.*2813-25C>T (n.*2813-25C>T) c.2563-25C>T (n.2563-25C>T) c.580-25C>T (n.580-25C>T) c.639-25C>T c.1771-25C>T (n.1771-25C>T) c.2899-25C>T (n.2899-25C>T) c.3079-25C>T (n.3079-25C>T) c.2746-25C>T (n.2746-25C>T) | dbSNP |
| 7 | g.117610495A>G | CA2684588291 | CFTR | c.2989-24A>G (n.2989-24A>G) c.*2703-24A>G (n.*2703-24A>G) c.2806-24A>G (n.2806-24A>G) c.*1289-24A>G (n.*1289-24A>G) c.*2813-24A>G (n.*2813-24A>G) c.2563-24A>G (n.2563-24A>G) c.580-24A>G (n.580-24A>G) c.639-24A>G c.1771-24A>G (n.1771-24A>G) c.2899-24A>G (n.2899-24A>G) c.3079-24A>G (n.3079-24A>G) c.2746-24A>G (n.2746-24A>G) | gnomAD v4 |
| 7 | g.117610496A>C | CA2684588292 | CFTR | c.2989-23A>C (n.2989-23A>C) c.*2703-23A>C (n.*2703-23A>C) c.2806-23A>C (n.2806-23A>C) c.*1289-23A>C (n.*1289-23A>C) c.*2813-23A>C (n.*2813-23A>C) c.2563-23A>C (n.2563-23A>C) c.580-23A>C (n.580-23A>C) c.639-23A>C c.1771-23A>C (n.1771-23A>C) c.2899-23A>C (n.2899-23A>C) c.3079-23A>C (n.3079-23A>C) c.2746-23A>C (n.2746-23A>C) | gnomAD v4 |
| 7 | g.117610497C>A | CA2684588293 | CFTR | c.2989-22C>A (n.2989-22C>A) c.*2703-22C>A (n.*2703-22C>A) c.2806-22C>A (n.2806-22C>A) c.*1289-22C>A (n.*1289-22C>A) c.*2813-22C>A (n.*2813-22C>A) c.2563-22C>A (n.2563-22C>A) c.580-22C>A (n.580-22C>A) c.639-22C>A c.1771-22C>A (n.1771-22C>A) c.2899-22C>A (n.2899-22C>A) c.3079-22C>A (n.3079-22C>A) c.2746-22C>A (n.2746-22C>A) | gnomAD v4 |
| 7 | g.117610498A= | CA1737384593 | CFTR | c.2989-21A= (n.2989-21A=) c.*2703-21A= (n.*2703-21A=) c.2806-21A= (n.2806-21A=) c.*1289-21A= (n.*1289-21A=) c.*2813-21A= (n.*2813-21A=) c.2563-21A= (n.2563-21A=) c.580-21A= (n.580-21A=) c.639-21A= c.1771-21A= (n.1771-21A=) c.2899-21A= (n.2899-21A=) c.3079-21A= (n.3079-21A=) c.2746-21A= (n.2746-21A=) | |
| 7 | g.117610498A>G | CA457229342 | CFTR | c.2989-21A>G (n.2989-21A>G) c.*2703-21A>G (n.*2703-21A>G) c.2806-21A>G (n.2806-21A>G) c.*1289-21A>G (n.*1289-21A>G) c.*2813-21A>G (n.*2813-21A>G) c.2563-21A>G (n.2563-21A>G) c.580-21A>G (n.580-21A>G) c.639-21A>G c.1771-21A>G (n.1771-21A>G) c.2899-21A>G (n.2899-21A>G) c.3079-21A>G (n.3079-21A>G) c.2746-21A>G (n.2746-21A>G) | dbSNP gnomAD v4 |
| 7 | g.117610498A>T | CA1737384595 | CFTR | c.2989-21A>T (n.2989-21A>T) c.*2703-21A>T (n.*2703-21A>T) c.2806-21A>T (n.2806-21A>T) c.*1289-21A>T (n.*1289-21A>T) c.*2813-21A>T (n.*2813-21A>T) c.2563-21A>T (n.2563-21A>T) c.580-21A>T (n.580-21A>T) c.639-21A>T c.1771-21A>T (n.1771-21A>T) c.2899-21A>T (n.2899-21A>T) c.3079-21A>T (n.3079-21A>T) c.2746-21A>T (n.2746-21A>T) | dbSNP |
| 7 | g.117610500G>T | CA651971877 | CFTR | c.2989-19G>T (n.2989-19G>T) c.*2703-19G>T (n.*2703-19G>T) c.2806-19G>T (n.2806-19G>T) c.*1289-19G>T (n.*1289-19G>T) c.*2813-19G>T (n.*2813-19G>T) c.2563-19G>T (n.2563-19G>T) c.580-19G>T (n.580-19G>T) c.639-19G>T c.1771-19G>T (n.1771-19G>T) c.2899-19G>T (n.2899-19G>T) c.3079-19G>T (n.3079-19G>T) c.2746-19G>T (n.2746-19G>T) | COSMIC |
| 7 | g.117610504del | CA2684588294 | CFTR | c.2989-15del (n.2989-15del) c.*2703-15del (n.*2703-15del) c.2806-15del (n.2806-15del) c.*1289-15del (n.*1289-15del) c.*2813-15del (n.*2813-15del) c.2563-15del (n.2563-15del) c.580-15del (n.580-15del) c.639-15del c.1771-15del (n.1771-15del) c.2899-15del (n.2899-15del) c.3079-15del (n.3079-15del) c.2746-15del (n.2746-15del) | gnomAD v4 |
| 7 | g.117610505C>A | CA577680824 | CFTR | c.2989-14C>A (n.2989-14C>A) c.*2703-14C>A (n.*2703-14C>A) c.2806-14C>A (n.2806-14C>A) c.*1289-14C>A (n.*1289-14C>A) c.*2813-14C>A (n.*2813-14C>A) c.2563-14C>A (n.2563-14C>A) c.580-14C>A (n.580-14C>A) c.639-14C>A c.1771-14C>A (n.1771-14C>A) c.2899-14C>A (n.2899-14C>A) c.3079-14C>A (n.3079-14C>A) c.2746-14C>A (n.2746-14C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610505C= | CA1737384597 | CFTR | c.2989-14C= (n.2989-14C=) c.*2703-14C= (n.*2703-14C=) c.2806-14C= (n.2806-14C=) c.*1289-14C= (n.*1289-14C=) c.*2813-14C= (n.*2813-14C=) c.2563-14C= (n.2563-14C=) c.580-14C= (n.580-14C=) c.639-14C= c.1771-14C= (n.1771-14C=) c.2899-14C= (n.2899-14C=) c.3079-14C= (n.3079-14C=) c.2746-14C= (n.2746-14C=) | |
| 7 | g.117610506T>A | CA4451358 | CFTR | c.2989-13T>A (n.2989-13T>A) c.*2703-13T>A (n.*2703-13T>A) c.2806-13T>A (n.2806-13T>A) c.*1289-13T>A (n.*1289-13T>A) c.*2813-13T>A (n.*2813-13T>A) c.2563-13T>A (n.2563-13T>A) c.580-13T>A (n.580-13T>A) c.639-13T>A c.1771-13T>A (n.1771-13T>A) c.2899-13T>A (n.2899-13T>A) c.3079-13T>A (n.3079-13T>A) c.2746-13T>A (n.2746-13T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610506T>C | CA4451359 | CFTR | c.2989-13T>C (n.2989-13T>C) c.*2703-13T>C (n.*2703-13T>C) c.2806-13T>C (n.2806-13T>C) c.*1289-13T>C (n.*1289-13T>C) c.*2813-13T>C (n.*2813-13T>C) c.2563-13T>C (n.2563-13T>C) c.580-13T>C (n.580-13T>C) c.639-13T>C c.1771-13T>C (n.1771-13T>C) c.2899-13T>C (n.2899-13T>C) c.3079-13T>C (n.3079-13T>C) c.2746-13T>C (n.2746-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610506T= | CA1737384599 | CFTR | c.2989-13T= (n.2989-13T=) c.*2703-13T= (n.*2703-13T=) c.2806-13T= (n.2806-13T=) c.*1289-13T= (n.*1289-13T=) c.*2813-13T= (n.*2813-13T=) c.2563-13T= (n.2563-13T=) c.580-13T= (n.580-13T=) c.639-13T= c.1771-13T= (n.1771-13T=) c.2899-13T= (n.2899-13T=) c.3079-13T= (n.3079-13T=) c.2746-13T= (n.2746-13T=) | |
| 7 | g.117610507T>G | CA1737384606 | CFTR | c.2989-12T>G (n.2989-12T>G) c.*2703-12T>G (n.*2703-12T>G) c.2806-12T>G (n.2806-12T>G) c.*1289-12T>G (n.*1289-12T>G) c.*2813-12T>G (n.*2813-12T>G) c.2563-12T>G (n.2563-12T>G) c.580-12T>G (n.580-12T>G) c.639-12T>G c.1771-12T>G (n.1771-12T>G) c.2899-12T>G (n.2899-12T>G) c.3079-12T>G (n.3079-12T>G) c.2746-12T>G (n.2746-12T>G) | dbSNP |
| 7 | g.117610507T= | CA1737384604 | CFTR | c.2989-12T= (n.2989-12T=) c.*2703-12T= (n.*2703-12T=) c.2806-12T= (n.2806-12T=) c.*1289-12T= (n.*1289-12T=) c.*2813-12T= (n.*2813-12T=) c.2563-12T= (n.2563-12T=) c.580-12T= (n.580-12T=) c.639-12T= c.1771-12T= (n.1771-12T=) c.2899-12T= (n.2899-12T=) c.3079-12T= (n.3079-12T=) c.2746-12T= (n.2746-12T=) | |
| 7 | g.117610509G>T | CA2684588295 | CFTR | c.2989-10G>T (n.2989-10G>T) c.*2703-10G>T (n.*2703-10G>T) c.2806-10G>T (n.2806-10G>T) c.*1289-10G>T (n.*1289-10G>T) c.*2813-10G>T (n.*2813-10G>T) c.2563-10G>T (n.2563-10G>T) c.580-10G>T (n.580-10G>T) c.639-10G>T c.1771-10G>T (n.1771-10G>T) c.2899-10G>T (n.2899-10G>T) c.3079-10G>T (n.3079-10G>T) c.2746-10G>T (n.2746-10G>T) | gnomAD v4 |
| 7 | g.117610510A>T | CA2684588296 | CFTR | c.2989-9A>T (n.2989-9A>T) c.*2703-9A>T (n.*2703-9A>T) c.2806-9A>T (n.2806-9A>T) c.*1289-9A>T (n.*1289-9A>T) c.*2813-9A>T (n.*2813-9A>T) c.2563-9A>T (n.2563-9A>T) c.580-9A>T (n.580-9A>T) c.639-9A>T c.1771-9A>T (n.1771-9A>T) c.2899-9A>T (n.2899-9A>T) c.3079-9A>T (n.3079-9A>T) c.2746-9A>T (n.2746-9A>T) | gnomAD v4 |
| 7 | g.117610512C>A | CA2684588297 | CFTR | c.2989-7C>A (n.2989-7C>A) c.*2703-7C>A (n.*2703-7C>A) c.2806-7C>A (n.2806-7C>A) c.*1289-7C>A (n.*1289-7C>A) c.*2813-7C>A (n.*2813-7C>A) c.2563-7C>A (n.2563-7C>A) c.580-7C>A (n.580-7C>A) c.639-7C>A c.1771-7C>A (n.1771-7C>A) c.2899-7C>A (n.2899-7C>A) c.3079-7C>A (n.3079-7C>A) c.2746-7C>A (n.2746-7C>A) | gnomAD v4 |
| 7 | g.117610513T>C | CA2739279037 | CFTR | c.2989-6T>C (n.2989-6T>C) c.*2703-6T>C (n.*2703-6T>C) c.2806-6T>C (n.2806-6T>C) c.*1289-6T>C (n.*1289-6T>C) c.*2813-6T>C (n.*2813-6T>C) c.2563-6T>C (n.2563-6T>C) c.580-6T>C (n.580-6T>C) c.639-6T>C c.1771-6T>C (n.1771-6T>C) c.2899-6T>C (n.2899-6T>C) c.3079-6T>C (n.3079-6T>C) c.2746-6T>C (n.2746-6T>C) | ClinVar |
| 7 | g.117610514T>C | CA164964994 | CFTR | c.2989-5T>C (n.2989-5T>C) c.*2703-5T>C (n.*2703-5T>C) c.2806-5T>C (n.2806-5T>C) c.*1289-5T>C (n.*1289-5T>C) c.*2813-5T>C (n.*2813-5T>C) c.2563-5T>C (n.2563-5T>C) c.580-5T>C (n.580-5T>C) c.639-5T>C c.1771-5T>C (n.1771-5T>C) c.2899-5T>C (n.2899-5T>C) c.3079-5T>C (n.3079-5T>C) c.2746-5T>C (n.2746-5T>C) | dbSNP gnomAD v3 |
| 7 | g.117610514T= | CA1737384608 | CFTR | c.2989-5T= (n.2989-5T=) c.*2703-5T= (n.*2703-5T=) c.2806-5T= (n.2806-5T=) c.*1289-5T= (n.*1289-5T=) c.*2813-5T= (n.*2813-5T=) c.2563-5T= (n.2563-5T=) c.580-5T= (n.580-5T=) c.639-5T= c.1771-5T= (n.1771-5T=) c.2899-5T= (n.2899-5T=) c.3079-5T= (n.3079-5T=) c.2746-5T= (n.2746-5T=) | |
| 7 | g.117610515A= | CA1737384612 | CFTR | c.2989-4A= (n.2989-4A=) c.*2703-4A= (n.*2703-4A=) c.2806-4A= (n.2806-4A=) c.*1289-4A= (n.*1289-4A=) c.*2813-4A= (n.*2813-4A=) c.2563-4A= (n.2563-4A=) c.580-4A= (n.580-4A=) c.639-4A= c.1771-4A= (n.1771-4A=) c.2899-4A= (n.2899-4A=) c.3079-4A= (n.3079-4A=) c.2746-4A= (n.2746-4A=) | |
| 7 | g.117610515A>G | CA1737384613 | CFTR | c.2989-4A>G (n.2989-4A>G) c.*2703-4A>G (n.*2703-4A>G) c.2806-4A>G (n.2806-4A>G) c.*1289-4A>G (n.*1289-4A>G) c.*2813-4A>G (n.*2813-4A>G) c.2563-4A>G (n.2563-4A>G) c.580-4A>G (n.580-4A>G) c.639-4A>G c.1771-4A>G (n.1771-4A>G) c.2899-4A>G (n.2899-4A>G) c.3079-4A>G (n.3079-4A>G) c.2746-4A>G (n.2746-4A>G) | dbSNP gnomAD v4 |
| 7 | g.117610519_117611808del | CA913189830 | CFTR | c.2989_3367del c.*2703_*3081del c.2806_3184del c.*1289_*1667del c.*2813_*3191del c.2563_2941del c.580_958del c.639_1017del c.1771_2149del c.2899_3277del c.3079_3457del c.2746_3124del | ClinVar |
| 7 | g.117610516C= | CA1737384622 | CFTR | c.2989-3C= (n.2989-3C=) c.*2703-3C= (n.*2703-3C=) c.2806-3C= (n.2806-3C=) c.*1289-3C= (n.*1289-3C=) c.*2813-3C= (n.*2813-3C=) c.2563-3C= (n.2563-3C=) c.580-3C= (n.580-3C=) c.639-3C= c.1771-3C= (n.1771-3C=) c.2899-3C= (n.2899-3C=) c.3079-3C= (n.3079-3C=) c.2746-3C= (n.2746-3C=) | |
| 7 | g.117610516C>G | CA326998 | CFTR | c.2989-3C>G (n.2989-3C>G) c.*2703-3C>G (n.*2703-3C>G) c.2806-3C>G (n.2806-3C>G) c.*1289-3C>G (n.*1289-3C>G) c.*2813-3C>G (n.*2813-3C>G) c.2563-3C>G (n.2563-3C>G) c.580-3C>G (n.580-3C>G) c.639-3C>G c.1771-3C>G (n.1771-3C>G) c.2899-3C>G (n.2899-3C>G) c.3079-3C>G (n.3079-3C>G) c.2746-3C>G (n.2746-3C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610516C>T | CA577680825 | CFTR | c.2989-3C>T (n.2989-3C>T) c.*2703-3C>T (n.*2703-3C>T) c.2806-3C>T (n.2806-3C>T) c.*1289-3C>T (n.*1289-3C>T) c.*2813-3C>T (n.*2813-3C>T) c.2563-3C>T (n.2563-3C>T) c.580-3C>T (n.580-3C>T) c.639-3C>T c.1771-3C>T (n.1771-3C>T) c.2899-3C>T (n.2899-3C>T) c.3079-3C>T (n.3079-3C>T) c.2746-3C>T (n.2746-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610516_117610667delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA | CA1737384620 | CFTR | c.2989-3_3137delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*2703-3_*2851delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2806-3_2954delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*1289-3_*1437delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*2813-3_*2961delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2563-3_2711delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.580-3_728delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.639-3_787delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.1771-3_1919delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2899-3_3047delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.3079-3_3227delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2746-3_2894delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA | |
| 7 | g.117610517A= | CA1737384628 | CFTR | c.2989-2A= (n.2989-2A=) c.*2703-2A= (n.*2703-2A=) c.2806-2A= (n.2806-2A=) c.*1289-2A= (n.*1289-2A=) c.*2813-2A= (n.*2813-2A=) c.2563-2A= (n.2563-2A=) c.580-2A= (n.580-2A=) c.639-2A= c.1771-2A= (n.1771-2A=) c.2899-2A= (n.2899-2A=) c.3079-2A= (n.3079-2A=) c.2746-2A= (n.2746-2A=) | |
| 7 | g.117610517A>C | CA368990217 | CFTR | c.2989-2A>C (n.2989-2A>C) c.*2703-2A>C (n.*2703-2A>C) c.2806-2A>C (n.2806-2A>C) c.*1289-2A>C (n.*1289-2A>C) c.*2813-2A>C (n.*2813-2A>C) c.2563-2A>C (n.2563-2A>C) c.580-2A>C (n.580-2A>C) c.639-2A>C c.1771-2A>C (n.1771-2A>C) c.2899-2A>C (n.2899-2A>C) c.3079-2A>C (n.3079-2A>C) c.2746-2A>C (n.2746-2A>C) | |
| 7 | g.117610517A>G | CA326997 | CFTR | c.2989-2A>G (n.2989-2A>G) c.*2703-2A>G (n.*2703-2A>G) c.2806-2A>G (n.2806-2A>G) c.*1289-2A>G (n.*1289-2A>G) c.*2813-2A>G (n.*2813-2A>G) c.2563-2A>G (n.2563-2A>G) c.580-2A>G (n.580-2A>G) c.639-2A>G c.1771-2A>G (n.1771-2A>G) c.2899-2A>G (n.2899-2A>G) c.3079-2A>G (n.3079-2A>G) c.2746-2A>G (n.2746-2A>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610517A>T | CA325704 | CFTR | c.2989-2A>T (n.2989-2A>T) c.*2703-2A>T (n.*2703-2A>T) c.2806-2A>T (n.2806-2A>T) c.*1289-2A>T (n.*1289-2A>T) c.*2813-2A>T (n.*2813-2A>T) c.2563-2A>T (n.2563-2A>T) c.580-2A>T (n.580-2A>T) c.639-2A>T c.1771-2A>T (n.1771-2A>T) c.2899-2A>T (n.2899-2A>T) c.3079-2A>T (n.3079-2A>T) c.2746-2A>T (n.2746-2A>T) | ClinVar dbSNP |
| 7 | g.117610519_117610669del | CA326999 | CFTR | c.2989_3139del c.*2703_*2853del c.2806_2956del c.*1289_*1439del c.*2813_*2963del c.2563_2713del c.580_730del c.639_789del c.1771_1921del c.2899_3049del c.3079_3229del c.2746_2896del | ClinVar dbSNP |
| 7 | g.117610518G>A | CA345319 | CFTR | c.2989-1G>A (n.2989-1G>A) c.*2703-1G>A (n.*2703-1G>A) c.2806-1G>A (n.2806-1G>A) c.*1289-1G>A (n.*1289-1G>A) c.*2813-1G>A (n.*2813-1G>A) c.2563-1G>A (n.2563-1G>A) c.580-1G>A (n.580-1G>A) c.639-1G>A c.1771-1G>A (n.1771-1G>A) c.2899-1G>A (n.2899-1G>A) c.3079-1G>A (n.3079-1G>A) c.2746-1G>A (n.2746-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610518G>C | CA368990230 | CFTR | c.2989-1G>C (n.2989-1G>C) c.*2703-1G>C (n.*2703-1G>C) c.2806-1G>C (n.2806-1G>C) c.*1289-1G>C (n.*1289-1G>C) c.*2813-1G>C (n.*2813-1G>C) c.2563-1G>C (n.2563-1G>C) c.580-1G>C (n.580-1G>C) c.639-1G>C c.1771-1G>C (n.1771-1G>C) c.2899-1G>C (n.2899-1G>C) c.3079-1G>C (n.3079-1G>C) c.2746-1G>C (n.2746-1G>C) | |
| 7 | g.117610518G= | CA1737384637 | CFTR | c.2989-1G= (n.2989-1G=) c.*2703-1G= (n.*2703-1G=) c.2806-1G= (n.2806-1G=) c.*1289-1G= (n.*1289-1G=) c.*2813-1G= (n.*2813-1G=) c.2563-1G= (n.2563-1G=) c.580-1G= (n.580-1G=) c.639-1G= c.1771-1G= (n.1771-1G=) c.2899-1G= (n.2899-1G=) c.3079-1G= (n.3079-1G=) c.2746-1G= (n.2746-1G=) | |
| 7 | g.117610518G>T | CA368990231 | CFTR | c.2989-1G>T (n.2989-1G>T) c.*2703-1G>T (n.*2703-1G>T) c.2806-1G>T (n.2806-1G>T) c.*1289-1G>T (n.*1289-1G>T) c.*2813-1G>T (n.*2813-1G>T) c.2563-1G>T (n.2563-1G>T) c.580-1G>T (n.580-1G>T) c.639-1G>T c.1771-1G>T (n.1771-1G>T) c.2899-1G>T (n.2899-1G>T) c.3079-1G>T (n.3079-1G>T) c.2746-1G>T (n.2746-1G>T) | |
| 7 | g.117610521_117610523del | CA645541519 | CFTR | c.2991_2993del c.*2705_*2707del c.2808_2810del c.*1291_*1293del c.*2815_*2817del c.2565_2567del c.582_584del c.641_643del c.1773_1775del c.2901_2903del c.3081_3083del c.2748_2750del | ClinVar COSMIC |
| 7 | g.117610519_117614713del | CA913189831 | CFTR | c.2989_3468del c.*2703_*3182del c.2806_3285del c.*1289_*1843del c.2989_3462del c.*2813_*3292del c.2563_3042del c.580_1059del c.639_1118del c.1771_2250del c.2899_3378del c.3079_3558del c.2746_3225del | ClinVar |
| 7 | g.117610519T>A | CA368990234 | CFTR | c.2989T>A (p.Leu997Met) c.*2703T>A (n.*2703T>A) c.2806T>A (p.Leu936Met) c.*1289T>A (n.*1289T>A) c.*2813T>A (n.*2813T>A) c.2563T>A (p.Leu855Met) c.580T>A (p.Leu194Met) c.639T>A c.1771T>A (p.Leu591Met) c.2899T>A (p.Leu967Met) c.3079T>A (p.Leu1027Met) c.2746T>A (p.Leu916Met) | |
| 7 | g.117610519T>C | CA457229343 | CFTR | c.2989T>C (p.Leu997=) c.*2703T>C (n.*2703T>C) c.2806T>C (p.Leu936=) c.*1289T>C (n.*1289T>C) c.*2813T>C (n.*2813T>C) c.2563T>C (p.Leu855=) c.580T>C (p.Leu194=) c.639T>C c.1771T>C (p.Leu591=) c.2899T>C (p.Leu967=) c.3079T>C (p.Leu1027=) c.2746T>C (p.Leu916=) | |
| 7 | g.117610519T>G | CA368990236 | CFTR | c.2989T>G (p.Leu997Val) c.*2703T>G (n.*2703T>G) c.2806T>G (p.Leu936Val) c.*1289T>G (n.*1289T>G) c.*2813T>G (n.*2813T>G) c.2563T>G (p.Leu855Val) c.580T>G (p.Leu194Val) c.639T>G c.1771T>G (p.Leu591Val) c.2899T>G (p.Leu967Val) c.3079T>G (p.Leu1027Val) c.2746T>G (p.Leu916Val) | |
| 7 | g.117610520T>A | CA368990247 | CFTR | c.2990T>A (p.Leu997Ter) c.*2704T>A (n.*2704T>A) c.2807T>A (p.Leu936Ter) c.*1290T>A (n.*1290T>A) c.*2814T>A (n.*2814T>A) c.2564T>A (p.Leu855Ter) c.581T>A (p.Leu194Ter) c.640T>A c.1772T>A (p.Leu591Ter) c.2900T>A (p.Leu967Ter) c.3080T>A (p.Leu1027Ter) c.2747T>A (p.Leu916Ter) | gnomAD v4 |
| 7 | g.117610520T>C | CA368990244 | CFTR | c.2990T>C (p.Leu997Ser) c.*2704T>C (n.*2704T>C) c.2807T>C (p.Leu936Ser) c.*1290T>C (n.*1290T>C) c.*2814T>C (n.*2814T>C) c.2564T>C (p.Leu855Ser) c.581T>C (p.Leu194Ser) c.640T>C c.1772T>C (p.Leu591Ser) c.2900T>C (p.Leu967Ser) c.3080T>C (p.Leu1027Ser) c.2747T>C (p.Leu916Ser) | |
| 7 | g.117610520T>G | CA368990238 | CFTR | c.2990T>G (p.Leu997Trp) c.*2704T>G (n.*2704T>G) c.2807T>G (p.Leu936Trp) c.*1290T>G (n.*1290T>G) c.*2814T>G (n.*2814T>G) c.2564T>G (p.Leu855Trp) c.581T>G (p.Leu194Trp) c.640T>G c.1772T>G (p.Leu591Trp) c.2900T>G (p.Leu967Trp) c.3080T>G (p.Leu1027Trp) c.2747T>G (p.Leu916Trp) | |
| 7 | g.117610521G>A | CA457229344 | CFTR | c.2991G>A (p.Leu997=) c.*2705G>A (n.*2705G>A) c.2808G>A (p.Leu936=) c.*1291G>A (n.*1291G>A) c.*2815G>A (n.*2815G>A) c.2565G>A (p.Leu855=) c.582G>A (p.Leu194=) c.641G>A c.1773G>A (p.Leu591=) c.2901G>A (p.Leu967=) c.3081G>A (p.Leu1027=) c.2748G>A (p.Leu916=) | ClinVar dbSNP |
| 7 | g.117610521G>C | CA090907 | CFTR | c.2991G>C (p.Leu997Phe) c.*2705G>C (n.*2705G>C) c.2808G>C (p.Leu936Phe) c.*1291G>C (n.*1291G>C) c.*2815G>C (n.*2815G>C) c.2565G>C (p.Leu855Phe) c.582G>C (p.Leu194Phe) c.641G>C c.1773G>C (p.Leu591Phe) c.2901G>C (p.Leu967Phe) c.3081G>C (p.Leu1027Phe) c.2748G>C (p.Leu916Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610521G= | CA1737384647 | CFTR | c.2991G= (p.Leu997=) c.*2705G= (n.*2705G=) c.2808G= (p.Leu936=) c.*1291G= (n.*1291G=) c.*2815G= (n.*2815G=) c.2565G= (p.Leu855=) c.582G= (p.Leu194=) c.641G= c.1773G= (p.Leu591=) c.2901G= (p.Leu967=) c.3081G= (p.Leu1027=) c.2748G= (p.Leu916=) | |
| 7 | g.117610521G>T | CA368990251 | CFTR | c.2991G>T (p.Leu997Phe) c.*2705G>T (n.*2705G>T) c.2808G>T (p.Leu936Phe) c.*1291G>T (n.*1291G>T) c.*2815G>T (n.*2815G>T) c.2565G>T (p.Leu855Phe) c.582G>T (p.Leu194Phe) c.641G>T c.1773G>T (p.Leu591Phe) c.2901G>T (p.Leu967Phe) c.3081G>T (p.Leu1027Phe) c.2748G>T (p.Leu916Phe) | gnomAD v4 |
| 7 | g.117610521_117610522delinsGT | CA1737384650 | CFTR | c.2991_2992delinsGT (p.Leu997=) c.*2705_*2706delinsGT (n.*2705_*2706delinsGT) c.2808_2809delinsGT (p.Leu936=) c.*1291_*1292delinsGT (n.*1291_*1292delinsGT) c.*2815_*2816delinsGT (n.*2815_*2816delinsGT) c.2565_2566delinsGT (p.Leu855=) c.582_583delinsGT (p.Leu194=) c.641_642delinsGT c.1773_1774delinsGT (p.Leu591=) c.2901_2902delinsGT (p.Leu967=) c.3081_3082delinsGT (p.Leu1027=) c.2748_2749delinsGT (p.Leu916=) | |
| 7 | g.117610522T>A | CA368990254 | CFTR | c.2992T>A (p.Leu998Ile) c.*2706T>A (n.*2706T>A) c.2809T>A (p.Leu937Ile) c.*1292T>A (n.*1292T>A) c.*2816T>A (n.*2816T>A) c.2566T>A (p.Leu856Ile) c.583T>A (p.Leu195Ile) c.642T>A c.1774T>A (p.Leu592Ile) c.2902T>A (p.Leu968Ile) c.3082T>A (p.Leu1028Ile) c.2749T>A (p.Leu917Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610522T>C | CA457229345 | CFTR | c.2992T>C (p.Leu998=) c.*2706T>C (n.*2706T>C) c.2809T>C (p.Leu937=) c.*1292T>C (n.*1292T>C) c.*2816T>C (n.*2816T>C) c.2566T>C (p.Leu856=) c.583T>C (p.Leu195=) c.642T>C c.1774T>C (p.Leu592=) c.2902T>C (p.Leu968=) c.3082T>C (p.Leu1028=) c.2749T>C (p.Leu917=) | |
| 7 | g.117610522T>G | CA368990258 | CFTR | c.2992T>G (p.Leu998Val) c.*2706T>G (n.*2706T>G) c.2809T>G (p.Leu937Val) c.*1292T>G (n.*1292T>G) c.*2816T>G (n.*2816T>G) c.2566T>G (p.Leu856Val) c.583T>G (p.Leu195Val) c.642T>G c.1774T>G (p.Leu592Val) c.2902T>G (p.Leu968Val) c.3082T>G (p.Leu1028Val) c.2749T>G (p.Leu917Val) | |
| 7 | g.117610523del | CA16041135 | CFTR | c.2993del (p.Leu998TyrfsTer2) c.*2707del (n.*2707del) c.2810del (p.Leu937TyrfsTer2) c.*1293del (n.*1293del) c.*2817del (n.*2817del) c.2567del (p.Leu856TyrfsTer2) c.584del (p.Leu195TyrfsTer2) c.643del c.1775del (p.Leu592TyrfsTer2) c.2903del (p.Leu968TyrfsTer2) c.3083del (p.Leu1028TyrfsTer2) c.2750del (p.Leu917TyrfsTer2) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610523T>A | CA368990269 | CFTR | c.2993T>A (p.Leu998Ter) c.*2707T>A (n.*2707T>A) c.2810T>A (p.Leu937Ter) c.*1293T>A (n.*1293T>A) c.*2817T>A (n.*2817T>A) c.2567T>A (p.Leu856Ter) c.584T>A (p.Leu195Ter) c.643T>A c.1775T>A (p.Leu592Ter) c.2903T>A (p.Leu968Ter) c.3083T>A (p.Leu1028Ter) c.2750T>A (p.Leu917Ter) | |
| 7 | g.117610523T>C | CA368990263 | CFTR | c.2993T>C (p.Leu998Ser) c.*2707T>C (n.*2707T>C) c.2810T>C (p.Leu937Ser) c.*1293T>C (n.*1293T>C) c.*2817T>C (n.*2817T>C) c.2567T>C (p.Leu856Ser) c.584T>C (p.Leu195Ser) c.643T>C c.1775T>C (p.Leu592Ser) c.2903T>C (p.Leu968Ser) c.3083T>C (p.Leu1028Ser) c.2750T>C (p.Leu917Ser) | |
| 7 | g.117610523T>G | CA368990267 | CFTR | c.2993T>G (p.Leu998Ter) c.*2707T>G (n.*2707T>G) c.2810T>G (p.Leu937Ter) c.*1293T>G (n.*1293T>G) c.*2817T>G (n.*2817T>G) c.2567T>G (p.Leu856Ter) c.584T>G (p.Leu195Ter) c.643T>G c.1775T>G (p.Leu592Ter) c.2903T>G (p.Leu968Ter) c.3083T>G (p.Leu1028Ter) c.2750T>G (p.Leu917Ter) | |
| 7 | g.117610523_117610524delinsTA | CA1737384655 | CFTR | c.2993_2994delinsTA (p.Leu998=) c.*2707_*2708delinsTA (n.*2707_*2708delinsTA) c.2810_2811delinsTA (p.Leu937=) c.*1293_*1294delinsTA (n.*1293_*1294delinsTA) c.*2817_*2818delinsTA (n.*2817_*2818delinsTA) c.2567_2568delinsTA (p.Leu856=) c.584_585delinsTA (p.Leu195=) c.643_644delinsTA c.1775_1776delinsTA (p.Leu592=) c.2903_2904delinsTA (p.Leu968=) c.3083_3084delinsTA (p.Leu1028=) c.2750_2751delinsTA (p.Leu917=) | |
| 7 | g.117610523_117610527delinsTATTA | CA1737384657 | CFTR | c.2993_2997delinsTATTA (p.Leu998=) c.*2707_*2711delinsTATTA (n.*2707_*2711delinsTATTA) c.2810_2814delinsTATTA (p.Leu937=) c.*1293_*1297delinsTATTA (n.*1293_*1297delinsTATTA) c.*2817_*2821delinsTATTA (n.*2817_*2821delinsTATTA) c.2567_2571delinsTATTA (p.Leu856=) c.584_588delinsTATTA (p.Leu195=) c.643_647delinsTATTA c.1775_1779delinsTATTA (p.Leu592=) c.2903_2907delinsTATTA (p.Leu968=) c.3083_3087delinsTATTA (p.Leu1028=) c.2750_2754delinsTATTA (p.Leu917=) | |
| 7 | g.117610524del | CA4451360 | CFTR | c.2994del (p.Leu998PhefsTer2) c.*2708del (n.*2708del) c.2811del (p.Leu937PhefsTer2) c.*1294del (n.*1294del) c.*2818del (n.*2818del) c.2568del (p.Leu856PhefsTer2) c.585del (p.Leu195PhefsTer2) c.644del c.1776del (p.Leu592PhefsTer2) c.2904del (p.Leu968PhefsTer2) c.3084del (p.Leu1028PhefsTer2) c.2751del (p.Leu917PhefsTer2) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.117610524A= | CA1737384672 | CFTR | c.2994A= (p.Leu998=) c.*2708A= (n.*2708A=) c.2811A= (p.Leu937=) c.*1294A= (n.*1294A=) c.*2818A= (n.*2818A=) c.2568A= (p.Leu856=) c.585A= (p.Leu195=) c.644A= c.1776A= (p.Leu592=) c.2904A= (p.Leu968=) c.3084A= (p.Leu1028=) c.2751A= (p.Leu917=) | |
| 7 | g.117610524A>C | CA368990279 | CFTR | c.2994A>C (p.Leu998Phe) c.*2708A>C (n.*2708A>C) c.2811A>C (p.Leu937Phe) c.*1294A>C (n.*1294A>C) c.*2818A>C (n.*2818A>C) c.2568A>C (p.Leu856Phe) c.585A>C (p.Leu195Phe) c.644A>C c.1776A>C (p.Leu592Phe) c.2904A>C (p.Leu968Phe) c.3084A>C (p.Leu1028Phe) c.2751A>C (p.Leu917Phe) | ClinVar |
| 7 | g.117610524A>G | CA4451361 | CFTR | c.2994A>G (p.Leu998=) c.*2708A>G (n.*2708A>G) c.2811A>G (p.Leu937=) c.*1294A>G (n.*1294A>G) c.*2818A>G (n.*2818A>G) c.2568A>G (p.Leu856=) c.585A>G (p.Leu195=) c.644A>G c.1776A>G (p.Leu592=) c.2904A>G (p.Leu968=) c.3084A>G (p.Leu1028=) c.2751A>G (p.Leu917=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610524A>T | CA368990277 | CFTR | c.2994A>T (p.Leu998Phe) c.*2708A>T (n.*2708A>T) c.2811A>T (p.Leu937Phe) c.*1294A>T (n.*1294A>T) c.*2818A>T (n.*2818A>T) c.2568A>T (p.Leu856Phe) c.585A>T (p.Leu195Phe) c.644A>T c.1776A>T (p.Leu592Phe) c.2904A>T (p.Leu968Phe) c.3084A>T (p.Leu1028Phe) c.2751A>T (p.Leu917Phe) | ClinVar |
| 7 | g.117610527_117610530del | CA327000 | CFTR | c.2997_3000del (p.Ile1000Ter) c.*2711_*2714del (n.*2711_*2714del) c.2814_2817del (p.Ile939Ter) c.*1297_*1300del (n.*1297_*1300del) c.*2821_*2824del (n.*2821_*2824del) c.2571_2574del (p.Ile858Ter) c.588_591del (p.Ile197Ter) c.647_650del c.1779_1782del (p.Ile594Ter) c.2907_2910del (p.Ile970Ter) c.3087_3090del (p.Ile1030Ter) c.2754_2757del (p.Ile919Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610525T>A | CA368990282 | CFTR | c.2995T>A (p.Leu999Ile) c.*2709T>A (n.*2709T>A) c.2812T>A (p.Leu938Ile) c.*1295T>A (n.*1295T>A) c.*2819T>A (n.*2819T>A) c.2569T>A (p.Leu857Ile) c.586T>A (p.Leu196Ile) c.645T>A c.1777T>A (p.Leu593Ile) c.2905T>A (p.Leu969Ile) c.3085T>A (p.Leu1029Ile) c.2752T>A (p.Leu918Ile) | |
| 7 | g.117610525T>C | CA457229346 | CFTR | c.2995T>C (p.Leu999=) c.*2709T>C (n.*2709T>C) c.2812T>C (p.Leu938=) c.*1295T>C (n.*1295T>C) c.*2819T>C (n.*2819T>C) c.2569T>C (p.Leu857=) c.586T>C (p.Leu196=) c.645T>C c.1777T>C (p.Leu593=) c.2905T>C (p.Leu969=) c.3085T>C (p.Leu1029=) c.2752T>C (p.Leu918=) | gnomAD v3 gnomAD v4 |
| 7 | g.117610525T>G | CA368990285 | CFTR | c.2995T>G (p.Leu999Val) c.*2709T>G (n.*2709T>G) c.2812T>G (p.Leu938Val) c.*1295T>G (n.*1295T>G) c.*2819T>G (n.*2819T>G) c.2569T>G (p.Leu857Val) c.586T>G (p.Leu196Val) c.645T>G c.1777T>G (p.Leu593Val) c.2905T>G (p.Leu969Val) c.3085T>G (p.Leu1029Val) c.2752T>G (p.Leu918Val) | |
| 7 | g.117610526T>A | CA368990288 | CFTR | c.2996T>A (p.Leu999Ter) c.*2710T>A (n.*2710T>A) c.2813T>A (p.Leu938Ter) c.*1296T>A (n.*1296T>A) c.*2820T>A (n.*2820T>A) c.2570T>A (p.Leu857Ter) c.587T>A (p.Leu196Ter) c.646T>A c.1778T>A (p.Leu593Ter) c.2906T>A (p.Leu969Ter) c.3086T>A (p.Leu1029Ter) c.2753T>A (p.Leu918Ter) | |
| 7 | g.117610526T>C | CA368990290 | CFTR | c.2996T>C (p.Leu999Ser) c.*2710T>C (n.*2710T>C) c.2813T>C (p.Leu938Ser) c.*1296T>C (n.*1296T>C) c.*2820T>C (n.*2820T>C) c.2570T>C (p.Leu857Ser) c.587T>C (p.Leu196Ser) c.646T>C c.1778T>C (p.Leu593Ser) c.2906T>C (p.Leu969Ser) c.3086T>C (p.Leu1029Ser) c.2753T>C (p.Leu918Ser) | |
| 7 | g.117610526T>G | CA368990291 | CFTR | c.2996T>G (p.Leu999Ter) c.*2710T>G (n.*2710T>G) c.2813T>G (p.Leu938Ter) c.*1296T>G (n.*1296T>G) c.*2820T>G (n.*2820T>G) c.2570T>G (p.Leu857Ter) c.587T>G (p.Leu196Ter) c.646T>G c.1778T>G (p.Leu593Ter) c.2906T>G (p.Leu969Ter) c.3086T>G (p.Leu1029Ter) c.2753T>G (p.Leu918Ter) | |
| 7 | g.117610526_117610527delinsTA | CA1737384677 | CFTR | c.2996_2997delinsTA (p.Leu999=) c.*2710_*2711delinsTA (n.*2710_*2711delinsTA) c.2813_2814delinsTA (p.Leu938=) c.*1296_*1297delinsTA (n.*1296_*1297delinsTA) c.*2820_*2821delinsTA (n.*2820_*2821delinsTA) c.2570_2571delinsTA (p.Leu857=) c.587_588delinsTA (p.Leu196=) c.646_647delinsTA c.1778_1779delinsTA (p.Leu593=) c.2906_2907delinsTA (p.Leu969=) c.3086_3087delinsTA (p.Leu1029=) c.2753_2754delinsTA (p.Leu918=) | |
| 7 | g.117610527A>C | CA368990295 | CFTR | c.2997A>C (p.Leu999Phe) c.*2711A>C (n.*2711A>C) c.2814A>C (p.Leu938Phe) c.*1297A>C (n.*1297A>C) c.*2821A>C (n.*2821A>C) c.2571A>C (p.Leu857Phe) c.588A>C (p.Leu196Phe) c.647A>C c.1779A>C (p.Leu593Phe) c.2907A>C (p.Leu969Phe) c.3087A>C (p.Leu1029Phe) c.2754A>C (p.Leu918Phe) | |
| 7 | g.117610527A>G | CA457229347 | CFTR | c.2997A>G (p.Leu999=) c.*2711A>G (n.*2711A>G) c.2814A>G (p.Leu938=) c.*1297A>G (n.*1297A>G) c.*2821A>G (n.*2821A>G) c.2571A>G (p.Leu857=) c.588A>G (p.Leu196=) c.647A>G c.1779A>G (p.Leu593=) c.2907A>G (p.Leu969=) c.3087A>G (p.Leu1029=) c.2754A>G (p.Leu918=) | gnomAD v4 |
| 7 | g.117610527A>T | CA368990298 | CFTR | c.2997A>T (p.Leu999Phe) c.*2711A>T (n.*2711A>T) c.2814A>T (p.Leu938Phe) c.*1297A>T (n.*1297A>T) c.*2821A>T (n.*2821A>T) c.2571A>T (p.Leu857Phe) c.588A>T (p.Leu196Phe) c.647A>T c.1779A>T (p.Leu593Phe) c.2907A>T (p.Leu969Phe) c.3087A>T (p.Leu1029Phe) c.2754A>T (p.Leu918Phe) | |
| 7 | g.117610528del | CA327002 | CFTR | c.2998del (p.Ile1000LeufsTer2) c.*2712del (n.*2712del) c.2815del (p.Ile939LeufsTer2) c.*1298del (n.*1298del) c.*2822del (n.*2822del) c.2572del (p.Ile858LeufsTer2) c.589del (p.Ile197LeufsTer2) c.648del c.1780del (p.Ile594LeufsTer2) c.2908del (p.Ile970LeufsTer2) c.3088del (p.Ile1030LeufsTer2) c.2755del (p.Ile919LeufsTer2) | ClinVar dbSNP |
| 7 | g.117610527_117610549delinsAATTGTGATTGGAGCTATAGCAG | CA1737384684 | CFTR | c.2997_3019delinsAATTGTGATTGGAGCTATAGCAG (p.Leu999=) c.*2711_*2733delinsAATTGTGATTGGAGCTATAGCAG (n.*2711_*2733delinsAATTGTGATTGGAGCTATAGCAG) c.2814_2836delinsAATTGTGATTGGAGCTATAGCAG (p.Leu938=) c.*1297_*1319delinsAATTGTGATTGGAGCTATAGCAG (n.*1297_*1319delinsAATTGTGATTGGAGCTATAGCAG) c.*2821_*2843delinsAATTGTGATTGGAGCTATAGCAG (n.*2821_*2843delinsAATTGTGATTGGAGCTATAGCAG) c.2571_2593delinsAATTGTGATTGGAGCTATAGCAG (p.Leu857=) c.588_610delinsAATTGTGATTGGAGCTATAGCAG (p.Leu196=) c.647_669delinsAATTGTGATTGGAGCTATAGCAG c.1779_1801delinsAATTGTGATTGGAGCTATAGCAG (p.Leu593=) c.2907_2929delinsAATTGTGATTGGAGCTATAGCAG (p.Leu969=) c.3087_3109delinsAATTGTGATTGGAGCTATAGCAG (p.Leu1029=) c.2754_2776delinsAATTGTGATTGGAGCTATAGCAG (p.Leu918=) | |
| 7 | g.117610528A>C | CA368990300 | CFTR | c.2998A>C (p.Ile1000Leu) c.*2712A>C (n.*2712A>C) c.2815A>C (p.Ile939Leu) c.*1298A>C (n.*1298A>C) c.*2822A>C (n.*2822A>C) c.2572A>C (p.Ile858Leu) c.589A>C (p.Ile197Leu) c.648A>C c.1780A>C (p.Ile594Leu) c.2908A>C (p.Ile970Leu) c.3088A>C (p.Ile1030Leu) c.2755A>C (p.Ile919Leu) | |
| 7 | g.117610528A>G | CA368990302 | CFTR | c.2998A>G (p.Ile1000Val) c.*2712A>G (n.*2712A>G) c.2815A>G (p.Ile939Val) c.*1298A>G (n.*1298A>G) c.*2822A>G (n.*2822A>G) c.2572A>G (p.Ile858Val) c.589A>G (p.Ile197Val) c.648A>G c.1780A>G (p.Ile594Val) c.2908A>G (p.Ile970Val) c.3088A>G (p.Ile1030Val) c.2755A>G (p.Ile919Val) | gnomAD v4 |
| 7 | g.117610528A>T | CA368990304 | CFTR | c.2998A>T (p.Ile1000Phe) c.*2712A>T (n.*2712A>T) c.2815A>T (p.Ile939Phe) c.*1298A>T (n.*1298A>T) c.*2822A>T (n.*2822A>T) c.2572A>T (p.Ile858Phe) c.589A>T (p.Ile197Phe) c.648A>T c.1780A>T (p.Ile594Phe) c.2908A>T (p.Ile970Phe) c.3088A>T (p.Ile1030Phe) c.2755A>T (p.Ile919Phe) | |
| 7 | g.117610530_117610544del | CA2579000359 | CFTR | c.3000_3014del (p.Val1001_Ile1005del) c.*2714_*2728del (n.*2714_*2728del) c.2817_2831del (p.Val940_Ile944del) c.*1300_*1314del (n.*1300_*1314del) c.*2824_*2838del (n.*2824_*2838del) c.2574_2588del (p.Val859_Ile863del) c.591_605del (p.Val198_Ile202del) c.650_664del c.1782_1796del (p.Val595_Ile599del) c.2910_2924del (p.Val971_Ile975del) c.3090_3104del (p.Val1031_Ile1035del) c.2757_2771del (p.Val920_Ile924del) | ClinVar |
| 7 | g.117610528_117610549del | CA327001 | CFTR | c.2998_3019del (p.Ile1000LeufsTer16) c.*2712_*2733del (n.*2712_*2733del) c.2815_2836del (p.Ile939LeufsTer16) c.*1298_*1319del (n.*1298_*1319del) c.*2822_*2843del (n.*2822_*2843del) c.2572_2593del (p.Ile858LeufsTer16) c.589_610del (p.Ile197LeufsTer16) c.648_669del c.1780_1801del (p.Ile594LeufsTer16) c.2908_2929del (p.Ile970LeufsTer16) c.3088_3109del (p.Ile1030LeufsTer16) c.2755_2776del (p.Ile919LeufsTer16) | ClinVar dbSNP |
| 7 | g.117610529T>A | CA368990307 | CFTR | c.2999T>A (p.Ile1000Asn) c.*2713T>A (n.*2713T>A) c.2816T>A (p.Ile939Asn) c.*1299T>A (n.*1299T>A) c.*2823T>A (n.*2823T>A) c.2573T>A (p.Ile858Asn) c.590T>A (p.Ile197Asn) c.649T>A c.1781T>A (p.Ile594Asn) c.2909T>A (p.Ile970Asn) c.3089T>A (p.Ile1030Asn) c.2756T>A (p.Ile919Asn) | |
| 7 | g.117610529T>C | CA368990309 | CFTR | c.2999T>C (p.Ile1000Thr) c.*2713T>C (n.*2713T>C) c.2816T>C (p.Ile939Thr) c.*1299T>C (n.*1299T>C) c.*2823T>C (n.*2823T>C) c.2573T>C (p.Ile858Thr) c.590T>C (p.Ile197Thr) c.649T>C c.1781T>C (p.Ile594Thr) c.2909T>C (p.Ile970Thr) c.3089T>C (p.Ile1030Thr) c.2756T>C (p.Ile919Thr) | |
| 7 | g.117610529T>G | CA368990311 | CFTR | c.2999T>G (p.Ile1000Ser) c.*2713T>G (n.*2713T>G) c.2816T>G (p.Ile939Ser) c.*1299T>G (n.*1299T>G) c.*2823T>G (n.*2823T>G) c.2573T>G (p.Ile858Ser) c.590T>G (p.Ile197Ser) c.649T>G c.1781T>G (p.Ile594Ser) c.2909T>G (p.Ile970Ser) c.3089T>G (p.Ile1030Ser) c.2756T>G (p.Ile919Ser) | |
| 7 | g.117610529_117610531delinsTTG | CA1737384690 | CFTR | c.2999_3001delinsTTG (p.Ile1000=) c.*2713_*2715delinsTTG (n.*2713_*2715delinsTTG) c.2816_2818delinsTTG (p.Ile939=) c.*1299_*1301delinsTTG (n.*1299_*1301delinsTTG) c.*2823_*2825delinsTTG (n.*2823_*2825delinsTTG) c.2573_2575delinsTTG (p.Ile858=) c.590_592delinsTTG (p.Ile197=) c.649_651delinsTTG c.1781_1783delinsTTG (p.Ile594=) c.2909_2911delinsTTG (p.Ile970=) c.3089_3091delinsTTG (p.Ile1030=) c.2756_2758delinsTTG (p.Ile919=) | |
| 7 | g.117610530T>A | CA457229348 | CFTR | c.3000T>A (p.Ile1000=) c.*2714T>A (n.*2714T>A) c.2817T>A (p.Ile939=) c.*1300T>A (n.*1300T>A) c.*2824T>A (n.*2824T>A) c.2574T>A (p.Ile858=) c.591T>A (p.Ile197=) c.650T>A c.1782T>A (p.Ile594=) c.2910T>A (p.Ile970=) c.3090T>A (p.Ile1030=) c.2757T>A (p.Ile919=) | |
| 7 | g.117610530T>C | CA457229349 | CFTR | c.3000T>C (p.Ile1000=) c.*2714T>C (n.*2714T>C) c.2817T>C (p.Ile939=) c.*1300T>C (n.*1300T>C) c.*2824T>C (n.*2824T>C) c.2574T>C (p.Ile858=) c.591T>C (p.Ile197=) c.650T>C c.1782T>C (p.Ile594=) c.2910T>C (p.Ile970=) c.3090T>C (p.Ile1030=) c.2757T>C (p.Ile919=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610530T>G | CA368990315 | CFTR | c.3000T>G (p.Ile1000Met) c.*2714T>G (n.*2714T>G) c.2817T>G (p.Ile939Met) c.*1300T>G (n.*1300T>G) c.*2824T>G (n.*2824T>G) c.2574T>G (p.Ile858Met) c.591T>G (p.Ile197Met) c.650T>G c.1782T>G (p.Ile594Met) c.2910T>G (p.Ile970Met) c.3090T>G (p.Ile1030Met) c.2757T>G (p.Ile919Met) | |
| 7 | g.117610530T= | CA1737384701 | CFTR | c.3000T= (p.Ile1000=) c.*2714T= (n.*2714T=) c.2817T= (p.Ile939=) c.*1300T= (n.*1300T=) c.*2824T= (n.*2824T=) c.2574T= (p.Ile858=) c.591T= (p.Ile197=) c.650T= c.1782T= (p.Ile594=) c.2910T= (p.Ile970=) c.3090T= (p.Ile1030=) c.2757T= (p.Ile919=) | |
| 7 | g.117610532_117610533del | CA327007 | CFTR | c.3002_3003del (p.Val1001AspfsTer?) c.*2716_*2717del (n.*2716_*2717del) c.2819_2820del (p.Val940AspfsTer?) c.*1302_*1303del (n.*1302_*1303del) c.*2826_*2827del (n.*2826_*2827del) c.2576_2577del (p.Val859AspfsTer?) c.593_594del (p.Val198AspfsTer?) c.652_653del c.1784_1785del (p.Val595AspfsTer?) c.2912_2913del (p.Val971AspfsTer?) c.3092_3093del (p.Val1031AspfsTer?) c.2759_2760del (p.Val920AspfsTer?) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610531G>A | CA164965069 | CFTR | c.3001G>A (p.Val1001Met) c.*2715G>A (n.*2715G>A) c.2818G>A (p.Val940Met) c.*1301G>A (n.*1301G>A) c.*2825G>A (n.*2825G>A) c.2575G>A (p.Val859Met) c.592G>A (p.Val198Met) c.651G>A c.1783G>A (p.Val595Met) c.2911G>A (p.Val971Met) c.3091G>A (p.Val1031Met) c.2758G>A (p.Val920Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117610531G>C | CA4451362 | CFTR | c.3001G>C (p.Val1001Leu) c.*2715G>C (n.*2715G>C) c.2818G>C (p.Val940Leu) c.*1301G>C (n.*1301G>C) c.*2825G>C (n.*2825G>C) c.2575G>C (p.Val859Leu) c.592G>C (p.Val198Leu) c.651G>C c.1783G>C (p.Val595Leu) c.2911G>C (p.Val971Leu) c.3091G>C (p.Val1031Leu) c.2758G>C (p.Val920Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610531G= | CA1737384713 | CFTR | c.3001G= (p.Val1001=) c.*2715G= (n.*2715G=) c.2818G= (p.Val940=) c.*1301G= (n.*1301G=) c.*2825G= (n.*2825G=) c.2575G= (p.Val859=) c.592G= (p.Val198=) c.651G= c.1783G= (p.Val595=) c.2911G= (p.Val971=) c.3091G= (p.Val1031=) c.2758G= (p.Val920=) | |
| 7 | g.117610531G>T | CA368990319 | CFTR | c.3001G>T (p.Val1001Leu) c.*2715G>T (n.*2715G>T) c.2818G>T (p.Val940Leu) c.*1301G>T (n.*1301G>T) c.*2825G>T (n.*2825G>T) c.2575G>T (p.Val859Leu) c.592G>T (p.Val198Leu) c.651G>T c.1783G>T (p.Val595Leu) c.2911G>T (p.Val971Leu) c.3091G>T (p.Val1031Leu) c.2758G>T (p.Val920Leu) | gnomAD v4 |
| 7 | g.117610532T>A | CA368990325 | CFTR | c.3002T>A (p.Val1001Glu) c.*2716T>A (n.*2716T>A) c.2819T>A (p.Val940Glu) c.*1302T>A (n.*1302T>A) c.*2826T>A (n.*2826T>A) c.2576T>A (p.Val859Glu) c.593T>A (p.Val198Glu) c.652T>A c.1784T>A (p.Val595Glu) c.2912T>A (p.Val971Glu) c.3092T>A (p.Val1031Glu) c.2759T>A (p.Val920Glu) | |
| 7 | g.117610532T>C | CA368990327 | CFTR | c.3002T>C (p.Val1001Ala) c.*2716T>C (n.*2716T>C) c.2819T>C (p.Val940Ala) c.*1302T>C (n.*1302T>C) c.*2826T>C (n.*2826T>C) c.2576T>C (p.Val859Ala) c.593T>C (p.Val198Ala) c.652T>C c.1784T>C (p.Val595Ala) c.2912T>C (p.Val971Ala) c.3092T>C (p.Val1031Ala) c.2759T>C (p.Val920Ala) | |
| 7 | g.117610532T>G | CA368990330 | CFTR | c.3002T>G (p.Val1001Gly) c.*2716T>G (n.*2716T>G) c.2819T>G (p.Val940Gly) c.*1302T>G (n.*1302T>G) c.*2826T>G (n.*2826T>G) c.2576T>G (p.Val859Gly) c.593T>G (p.Val198Gly) c.652T>G c.1784T>G (p.Val595Gly) c.2912T>G (p.Val971Gly) c.3092T>G (p.Val1031Gly) c.2759T>G (p.Val920Gly) | |
| 7 | g.117610533G>A | CA457229350 | CFTR | c.3003G>A (p.Val1001=) c.*2717G>A (n.*2717G>A) c.2820G>A (p.Val940=) c.*1303G>A (n.*1303G>A) c.*2827G>A (n.*2827G>A) c.2577G>A (p.Val859=) c.594G>A (p.Val198=) c.653G>A c.1785G>A (p.Val595=) c.2913G>A (p.Val971=) c.3093G>A (p.Val1031=) c.2760G>A (p.Val920=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610533G>C | CA457229351 | CFTR | c.3003G>C (p.Val1001=) c.*2717G>C (n.*2717G>C) c.2820G>C (p.Val940=) c.*1303G>C (n.*1303G>C) c.*2827G>C (n.*2827G>C) c.2577G>C (p.Val859=) c.594G>C (p.Val198=) c.653G>C c.1785G>C (p.Val595=) c.2913G>C (p.Val971=) c.3093G>C (p.Val1031=) c.2760G>C (p.Val920=) | |
| 7 | g.117610533G= | CA1737384716 | CFTR | c.3003G= (p.Val1001=) c.*2717G= (n.*2717G=) c.2820G= (p.Val940=) c.*1303G= (n.*1303G=) c.*2827G= (n.*2827G=) c.2577G= (p.Val859=) c.594G= (p.Val198=) c.653G= c.1785G= (p.Val595=) c.2913G= (p.Val971=) c.3093G= (p.Val1031=) c.2760G= (p.Val920=) | |
| 7 | g.117610533G>T | CA457229352 | CFTR | c.3003G>T (p.Val1001=) c.*2717G>T (n.*2717G>T) c.2820G>T (p.Val940=) c.*1303G>T (n.*1303G>T) c.*2827G>T (n.*2827G>T) c.2577G>T (p.Val859=) c.594G>T (p.Val198=) c.653G>T c.1785G>T (p.Val595=) c.2913G>T (p.Val971=) c.3093G>T (p.Val1031=) c.2760G>T (p.Val920=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610534A= | CA1737384719 | CFTR | c.3004A= (p.Ile1002=) c.*2718A= (n.*2718A=) c.2821A= (p.Ile941=) c.*1304A= (n.*1304A=) c.*2828A= (n.*2828A=) c.2578A= (p.Ile860=) c.595A= (p.Ile199=) c.654A= c.1786A= (p.Ile596=) c.2914A= (p.Ile972=) c.3094A= (p.Ile1032=) c.2761A= (p.Ile921=) | |
| 7 | g.117610534A>C | CA368990332 | CFTR | c.3004A>C (p.Ile1002Leu) c.*2718A>C (n.*2718A>C) c.2821A>C (p.Ile941Leu) c.*1304A>C (n.*1304A>C) c.*2828A>C (n.*2828A>C) c.2578A>C (p.Ile860Leu) c.595A>C (p.Ile199Leu) c.654A>C c.1786A>C (p.Ile596Leu) c.2914A>C (p.Ile972Leu) c.3094A>C (p.Ile1032Leu) c.2761A>C (p.Ile921Leu) | |
| 7 | g.117610534A>G | CA368990338 | CFTR | c.3004A>G (p.Ile1002Val) c.*2718A>G (n.*2718A>G) c.2821A>G (p.Ile941Val) c.*1304A>G (n.*1304A>G) c.*2828A>G (n.*2828A>G) c.2578A>G (p.Ile860Val) c.595A>G (p.Ile199Val) c.654A>G c.1786A>G (p.Ile596Val) c.2914A>G (p.Ile972Val) c.3094A>G (p.Ile1032Val) c.2761A>G (p.Ile921Val) | |
| 7 | g.117610534A>T | CA4451363 | CFTR | c.3004A>T (p.Ile1002Phe) c.*2718A>T (n.*2718A>T) c.2821A>T (p.Ile941Phe) c.*1304A>T (n.*1304A>T) c.*2828A>T (n.*2828A>T) c.2578A>T (p.Ile860Phe) c.595A>T (p.Ile199Phe) c.654A>T c.1786A>T (p.Ile596Phe) c.2914A>T (p.Ile972Phe) c.3094A>T (p.Ile1032Phe) c.2761A>T (p.Ile921Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610535T>A | CA368990342 | CFTR | c.3005T>A (p.Ile1002Asn) c.*2719T>A (n.*2719T>A) c.2822T>A (p.Ile941Asn) c.*1305T>A (n.*1305T>A) c.*2829T>A (n.*2829T>A) c.2579T>A (p.Ile860Asn) c.596T>A (p.Ile199Asn) c.655T>A c.1787T>A (p.Ile596Asn) c.2915T>A (p.Ile972Asn) c.3095T>A (p.Ile1032Asn) c.2762T>A (p.Ile921Asn) | |
| 7 | g.117610535T>C | CA368990346 | CFTR | c.3005T>C (p.Ile1002Thr) c.*2719T>C (n.*2719T>C) c.2822T>C (p.Ile941Thr) c.*1305T>C (n.*1305T>C) c.*2829T>C (n.*2829T>C) c.2579T>C (p.Ile860Thr) c.596T>C (p.Ile199Thr) c.655T>C c.1787T>C (p.Ile596Thr) c.2915T>C (p.Ile972Thr) c.3095T>C (p.Ile1032Thr) c.2762T>C (p.Ile921Thr) | ClinVar dbSNP |
| 7 | g.117610535T>G | CA368990343 | CFTR | c.3005T>G (p.Ile1002Ser) c.*2719T>G (n.*2719T>G) c.2822T>G (p.Ile941Ser) c.*1305T>G (n.*1305T>G) c.*2829T>G (n.*2829T>G) c.2579T>G (p.Ile860Ser) c.596T>G (p.Ile199Ser) c.655T>G c.1787T>G (p.Ile596Ser) c.2915T>G (p.Ile972Ser) c.3095T>G (p.Ile1032Ser) c.2762T>G (p.Ile921Ser) | |
| 7 | g.117610535T= | CA1737384722 | CFTR | c.3005T= (p.Ile1002=) c.*2719T= (n.*2719T=) c.2822T= (p.Ile941=) c.*1305T= (n.*1305T=) c.*2829T= (n.*2829T=) c.2579T= (p.Ile860=) c.596T= (p.Ile199=) c.655T= c.1787T= (p.Ile596=) c.2915T= (p.Ile972=) c.3095T= (p.Ile1032=) c.2762T= (p.Ile921=) | |
| 7 | g.117610536T>A | CA457229353 | CFTR | c.3006T>A (p.Ile1002=) c.*2720T>A (n.*2720T>A) c.2823T>A (p.Ile941=) c.*1306T>A (n.*1306T>A) c.*2830T>A (n.*2830T>A) c.2580T>A (p.Ile860=) c.597T>A (p.Ile199=) c.656T>A c.1788T>A (p.Ile596=) c.2916T>A (p.Ile972=) c.3096T>A (p.Ile1032=) c.2763T>A (p.Ile921=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117610536T>C | CA457229354 | CFTR | c.3006T>C (p.Ile1002=) c.*2720T>C (n.*2720T>C) c.2823T>C (p.Ile941=) c.*1306T>C (n.*1306T>C) c.*2830T>C (n.*2830T>C) c.2580T>C (p.Ile860=) c.597T>C (p.Ile199=) c.656T>C c.1788T>C (p.Ile596=) c.2916T>C (p.Ile972=) c.3096T>C (p.Ile1032=) c.2763T>C (p.Ile921=) | |
| 7 | g.117610536T>G | CA368990348 | CFTR | c.3006T>G (p.Ile1002Met) c.*2720T>G (n.*2720T>G) c.2823T>G (p.Ile941Met) c.*1306T>G (n.*1306T>G) c.*2830T>G (n.*2830T>G) c.2580T>G (p.Ile860Met) c.597T>G (p.Ile199Met) c.656T>G c.1788T>G (p.Ile596Met) c.2916T>G (p.Ile972Met) c.3096T>G (p.Ile1032Met) c.2763T>G (p.Ile921Met) | |
| 7 | g.117610536T= | CA1737384726 | CFTR | c.3006T= (p.Ile1002=) c.*2720T= (n.*2720T=) c.2823T= (p.Ile941=) c.*1306T= (n.*1306T=) c.*2830T= (n.*2830T=) c.2580T= (p.Ile860=) c.597T= (p.Ile199=) c.656T= c.1788T= (p.Ile596=) c.2916T= (p.Ile972=) c.3096T= (p.Ile1032=) c.2763T= (p.Ile921=) | |
| 7 | g.117610537G>A | CA368990351 | CFTR | c.3007G>A (p.Gly1003Arg) c.*2721G>A (n.*2721G>A) c.2824G>A (p.Gly942Arg) c.*1307G>A (n.*1307G>A) c.*2831G>A (n.*2831G>A) c.2581G>A (p.Gly861Arg) c.598G>A (p.Gly200Arg) c.657G>A c.1789G>A (p.Gly597Arg) c.2917G>A (p.Gly973Arg) c.3097G>A (p.Gly1033Arg) c.2764G>A (p.Gly922Arg) | ClinVar |
| 7 | g.117610537G>C | CA368990353 | CFTR | c.3007G>C (p.Gly1003Arg) c.*2721G>C (n.*2721G>C) c.2824G>C (p.Gly942Arg) c.*1307G>C (n.*1307G>C) c.*2831G>C (n.*2831G>C) c.2581G>C (p.Gly861Arg) c.598G>C (p.Gly200Arg) c.657G>C c.1789G>C (p.Gly597Arg) c.2917G>C (p.Gly973Arg) c.3097G>C (p.Gly1033Arg) c.2764G>C (p.Gly922Arg) | |
| 7 | g.117610537G= | CA1737384733 | CFTR | c.3007G= (p.Gly1003=) c.*2721G= (n.*2721G=) c.2824G= (p.Gly942=) c.*1307G= (n.*1307G=) c.*2831G= (n.*2831G=) c.2581G= (p.Gly861=) c.598G= (p.Gly200=) c.657G= c.1789G= (p.Gly597=) c.2917G= (p.Gly973=) c.3097G= (p.Gly1033=) c.2764G= (p.Gly922=) | |
| 7 | g.117610537G>T | CA327008 | CFTR | c.3007G>T (p.Gly1003Ter) c.*2721G>T (n.*2721G>T) c.2824G>T (p.Gly942Ter) c.*1307G>T (n.*1307G>T) c.*2831G>T (n.*2831G>T) c.2581G>T (p.Gly861Ter) c.598G>T (p.Gly200Ter) c.657G>T c.1789G>T (p.Gly597Ter) c.2917G>T (p.Gly973Ter) c.3097G>T (p.Gly1033Ter) c.2764G>T (p.Gly922Ter) | ClinVar dbSNP |
| 7 | g.117610538G>A | CA327010 | CFTR | c.3008G>A (p.Gly1003Glu) c.*2722G>A (n.*2722G>A) c.2825G>A (p.Gly942Glu) c.*1308G>A (n.*1308G>A) c.*2832G>A (n.*2832G>A) c.2582G>A (p.Gly861Glu) c.599G>A (p.Gly200Glu) c.658G>A c.1790G>A (p.Gly597Glu) c.2918G>A (p.Gly973Glu) c.3098G>A (p.Gly1033Glu) c.2765G>A (p.Gly922Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610538G>C | CA368990367 | CFTR | c.3008G>C (p.Gly1003Ala) c.*2722G>C (n.*2722G>C) c.2825G>C (p.Gly942Ala) c.*1308G>C (n.*1308G>C) c.*2832G>C (n.*2832G>C) c.2582G>C (p.Gly861Ala) c.599G>C (p.Gly200Ala) c.658G>C c.1790G>C (p.Gly597Ala) c.2918G>C (p.Gly973Ala) c.3098G>C (p.Gly1033Ala) c.2765G>C (p.Gly922Ala) | |
| 7 | g.117610538G= | CA1737384740 | CFTR | c.3008G= (p.Gly1003=) c.*2722G= (n.*2722G=) c.2825G= (p.Gly942=) c.*1308G= (n.*1308G=) c.*2832G= (n.*2832G=) c.2582G= (p.Gly861=) c.599G= (p.Gly200=) c.658G= c.1790G= (p.Gly597=) c.2918G= (p.Gly973=) c.3098G= (p.Gly1033=) c.2765G= (p.Gly922=) | |
| 7 | g.117610538G>T | CA368990364 | CFTR | c.3008G>T (p.Gly1003Val) c.*2722G>T (n.*2722G>T) c.2825G>T (p.Gly942Val) c.*1308G>T (n.*1308G>T) c.*2832G>T (n.*2832G>T) c.2582G>T (p.Gly861Val) c.599G>T (p.Gly200Val) c.658G>T c.1790G>T (p.Gly597Val) c.2918G>T (p.Gly973Val) c.3098G>T (p.Gly1033Val) c.2765G>T (p.Gly922Val) | |
| 7 | g.117610538_117610547delinsGAGCTATAGC | CA1737384742 | CFTR | c.3008_3017delinsGAGCTATAGC (p.Gly1003=) c.*2722_*2731delinsGAGCTATAGC (n.*2722_*2731delinsGAGCTATAGC) c.2825_2834delinsGAGCTATAGC (p.Gly942=) c.*1308_*1317delinsGAGCTATAGC (n.*1308_*1317delinsGAGCTATAGC) c.*2832_*2841delinsGAGCTATAGC (n.*2832_*2841delinsGAGCTATAGC) c.2582_2591delinsGAGCTATAGC (p.Gly861=) c.599_608delinsGAGCTATAGC (p.Gly200=) c.658_667delinsGAGCTATAGC c.1790_1799delinsGAGCTATAGC (p.Gly597=) c.2918_2927delinsGAGCTATAGC (p.Gly973=) c.3098_3107delinsGAGCTATAGC (p.Gly1033=) c.2765_2774delinsGAGCTATAGC (p.Gly922=) | |
| 7 | g.117610539A>C | CA457229355 | CFTR | c.3009A>C (p.Gly1003=) c.*2723A>C (n.*2723A>C) c.2826A>C (p.Gly942=) c.*1309A>C (n.*1309A>C) c.*2833A>C (n.*2833A>C) c.2583A>C (p.Gly861=) c.600A>C (p.Gly200=) c.659A>C c.1791A>C (p.Gly597=) c.2919A>C (p.Gly973=) c.3099A>C (p.Gly1033=) c.2766A>C (p.Gly922=) | ClinVar |
| 7 | g.117610539A>G | CA457229356 | CFTR | c.3009A>G (p.Gly1003=) c.*2723A>G (n.*2723A>G) c.2826A>G (p.Gly942=) c.*1309A>G (n.*1309A>G) c.*2833A>G (n.*2833A>G) c.2583A>G (p.Gly861=) c.600A>G (p.Gly200=) c.659A>G c.1791A>G (p.Gly597=) c.2919A>G (p.Gly973=) c.3099A>G (p.Gly1033=) c.2766A>G (p.Gly922=) | |
| 7 | g.117610539A>T | CA457229357 | CFTR | c.3009A>T (p.Gly1003=) c.*2723A>T (n.*2723A>T) c.2826A>T (p.Gly942=) c.*1309A>T (n.*1309A>T) c.*2833A>T (n.*2833A>T) c.2583A>T (p.Gly861=) c.600A>T (p.Gly200=) c.659A>T c.1791A>T (p.Gly597=) c.2919A>T (p.Gly973=) c.3099A>T (p.Gly1033=) c.2766A>T (p.Gly922=) | |
| 7 | g.117610541_117610549del | CA913189832 | CFTR | c.3011_3019del (p.Ala1004_Ala1006del) c.*2725_*2733del (n.*2725_*2733del) c.2828_2836del (p.Ala943_Ala945del) c.*1311_*1319del (n.*1311_*1319del) c.*2835_*2843del (n.*2835_*2843del) c.2585_2593del (p.Ala862_Ala864del) c.602_610del (p.Ala201_Ala203del) c.661_669del c.1793_1801del (p.Ala598_Ala600del) c.2921_2929del (p.Ala974_Ala976del) c.3101_3109del (p.Ala1034_Ala1036del) c.2768_2776del (p.Ala923_Ala925del) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610540G>A | CA368990371 | CFTR | c.3010G>A (p.Ala1004Thr) c.*2724G>A (n.*2724G>A) c.2827G>A (p.Ala943Thr) c.*1310G>A (n.*1310G>A) c.*2834G>A (n.*2834G>A) c.2584G>A (p.Ala862Thr) c.601G>A (p.Ala201Thr) c.660G>A c.1792G>A (p.Ala598Thr) c.2920G>A (p.Ala974Thr) c.3100G>A (p.Ala1034Thr) c.2767G>A (p.Ala923Thr) | |
| 7 | g.117610540G>C | CA368990374 | CFTR | c.3010G>C (p.Ala1004Pro) c.*2724G>C (n.*2724G>C) c.2827G>C (p.Ala943Pro) c.*1310G>C (n.*1310G>C) c.*2834G>C (n.*2834G>C) c.2584G>C (p.Ala862Pro) c.601G>C (p.Ala201Pro) c.660G>C c.1792G>C (p.Ala598Pro) c.2920G>C (p.Ala974Pro) c.3100G>C (p.Ala1034Pro) c.2767G>C (p.Ala923Pro) | |
| 7 | g.117610540G>T | CA368990375 | CFTR | c.3010G>T (p.Ala1004Ser) c.*2724G>T (n.*2724G>T) c.2827G>T (p.Ala943Ser) c.*1310G>T (n.*1310G>T) c.*2834G>T (n.*2834G>T) c.2584G>T (p.Ala862Ser) c.601G>T (p.Ala201Ser) c.660G>T c.1792G>T (p.Ala598Ser) c.2920G>T (p.Ala974Ser) c.3100G>T (p.Ala1034Ser) c.2767G>T (p.Ala923Ser) | |
| 7 | g.117610540_117610541delinsGC | CA1737384752 | CFTR | c.3010_3011delinsGC (p.Ala1004=) c.*2724_*2725delinsGC (n.*2724_*2725delinsGC) c.2827_2828delinsGC (p.Ala943=) c.*1310_*1311delinsGC (n.*1310_*1311delinsGC) c.*2834_*2835delinsGC (n.*2834_*2835delinsGC) c.2584_2585delinsGC (p.Ala862=) c.601_602delinsGC (p.Ala201=) c.660_661delinsGC c.1792_1793delinsGC (p.Ala598=) c.2920_2921delinsGC (p.Ala974=) c.3100_3101delinsGC (p.Ala1034=) c.2767_2768delinsGC (p.Ala923=) | |
| 7 | g.117610541del | CA913189833 | CFTR | c.3011del (p.Ala1004ValfsTer2) c.*2725del (n.*2725del) c.2828del (p.Ala943ValfsTer2) c.*1311del (n.*1311del) c.*2835del (n.*2835del) c.2585del (p.Ala862ValfsTer2) c.602del (p.Ala201ValfsTer2) c.661del c.1793del (p.Ala598ValfsTer2) c.2921del (p.Ala974ValfsTer2) c.3101del (p.Ala1034ValfsTer2) c.2768del (p.Ala923ValfsTer2) | ClinVar dbSNP |
| 7 | g.117610541C>A | CA368990381 | CFTR | c.3011C>A (p.Ala1004Asp) c.*2725C>A (n.*2725C>A) c.2828C>A (p.Ala943Asp) c.*1311C>A (n.*1311C>A) c.*2835C>A (n.*2835C>A) c.2585C>A (p.Ala862Asp) c.602C>A (p.Ala201Asp) c.661C>A c.1793C>A (p.Ala598Asp) c.2921C>A (p.Ala974Asp) c.3101C>A (p.Ala1034Asp) c.2768C>A (p.Ala923Asp) | |
| 7 | g.117610541C= | CA1737384759 | CFTR | c.3011C= (p.Ala1004=) c.*2725C= (n.*2725C=) c.2828C= (p.Ala943=) c.*1311C= (n.*1311C=) c.*2835C= (n.*2835C=) c.2585C= (p.Ala862=) c.602C= (p.Ala201=) c.661C= c.1793C= (p.Ala598=) c.2921C= (p.Ala974=) c.3101C= (p.Ala1034=) c.2768C= (p.Ala923=) | |
| 7 | g.117610541C>G | CA501096 | CFTR | c.3011C>G (p.Ala1004Gly) c.*2725C>G (n.*2725C>G) c.2828C>G (p.Ala943Gly) c.*1311C>G (n.*1311C>G) c.*2835C>G (n.*2835C>G) c.2585C>G (p.Ala862Gly) c.602C>G (p.Ala201Gly) c.661C>G c.1793C>G (p.Ala598Gly) c.2921C>G (p.Ala974Gly) c.3101C>G (p.Ala1034Gly) c.2768C>G (p.Ala923Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610541C>T | CA368990388 | CFTR | c.3011C>T (p.Ala1004Val) c.*2725C>T (n.*2725C>T) c.2828C>T (p.Ala943Val) c.*1311C>T (n.*1311C>T) c.*2835C>T (n.*2835C>T) c.2585C>T (p.Ala862Val) c.602C>T (p.Ala201Val) c.661C>T c.1793C>T (p.Ala598Val) c.2921C>T (p.Ala974Val) c.3101C>T (p.Ala1034Val) c.2768C>T (p.Ala923Val) | |
| 7 | g.117610542T>A | CA457229359 | CFTR | c.3012T>A (p.Ala1004=) c.*2726T>A (n.*2726T>A) c.2829T>A (p.Ala943=) c.*1312T>A (n.*1312T>A) c.*2836T>A (n.*2836T>A) c.2586T>A (p.Ala862=) c.603T>A (p.Ala201=) c.662T>A c.1794T>A (p.Ala598=) c.2922T>A (p.Ala974=) c.3102T>A (p.Ala1034=) c.2769T>A (p.Ala923=) | |
| 7 | g.117610542T>C | CA457229361 | CFTR | c.3012T>C (p.Ala1004=) c.*2726T>C (n.*2726T>C) c.2829T>C (p.Ala943=) c.*1312T>C (n.*1312T>C) c.*2836T>C (n.*2836T>C) c.2586T>C (p.Ala862=) c.603T>C (p.Ala201=) c.662T>C c.1794T>C (p.Ala598=) c.2922T>C (p.Ala974=) c.3102T>C (p.Ala1034=) c.2769T>C (p.Ala923=) | |
| 7 | g.117610542T>G | CA457229360 | CFTR | c.3012T>G (p.Ala1004=) c.*2726T>G (n.*2726T>G) c.2829T>G (p.Ala943=) c.*1312T>G (n.*1312T>G) c.*2836T>G (n.*2836T>G) c.2586T>G (p.Ala862=) c.603T>G (p.Ala201=) c.662T>G c.1794T>G (p.Ala598=) c.2922T>G (p.Ala974=) c.3102T>G (p.Ala1034=) c.2769T>G (p.Ala923=) | |
| 7 | g.117610543A= | CA1737384765 | CFTR | c.3013A= (p.Ile1005=) c.*2727A= (n.*2727A=) c.2830A= (p.Ile944=) c.*1313A= (n.*1313A=) c.*2837A= (n.*2837A=) c.2587A= (p.Ile863=) c.604A= (p.Ile202=) c.663A= c.1795A= (p.Ile599=) c.2923A= (p.Ile975=) c.3103A= (p.Ile1035=) c.2770A= (p.Ile924=) | |
| 7 | g.117610543A>C | CA368990394 | CFTR | c.3013A>C (p.Ile1005Leu) c.*2727A>C (n.*2727A>C) c.2830A>C (p.Ile944Leu) c.*1313A>C (n.*1313A>C) c.*2837A>C (n.*2837A>C) c.2587A>C (p.Ile863Leu) c.604A>C (p.Ile202Leu) c.663A>C c.1795A>C (p.Ile599Leu) c.2923A>C (p.Ile975Leu) c.3103A>C (p.Ile1035Leu) c.2770A>C (p.Ile924Leu) | |
| 7 | g.117610543A>G | CA368990397 | CFTR | c.3013A>G (p.Ile1005Val) c.*2727A>G (n.*2727A>G) c.2830A>G (p.Ile944Val) c.*1313A>G (n.*1313A>G) c.*2837A>G (n.*2837A>G) c.2587A>G (p.Ile863Val) c.604A>G (p.Ile202Val) c.663A>G c.1795A>G (p.Ile599Val) c.2923A>G (p.Ile975Val) c.3103A>G (p.Ile1035Val) c.2770A>G (p.Ile924Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117610543A>T | CA368990399 | CFTR | c.3013A>T (p.Ile1005Leu) c.*2727A>T (n.*2727A>T) c.2830A>T (p.Ile944Leu) c.*1313A>T (n.*1313A>T) c.*2837A>T (n.*2837A>T) c.2587A>T (p.Ile863Leu) c.604A>T (p.Ile202Leu) c.663A>T c.1795A>T (p.Ile599Leu) c.2923A>T (p.Ile975Leu) c.3103A>T (p.Ile1035Leu) c.2770A>T (p.Ile924Leu) | |
| 7 | g.117610544T>A | CA368990402 | CFTR | c.3014T>A (p.Ile1005Lys) c.*2728T>A (n.*2728T>A) c.2831T>A (p.Ile944Lys) c.*1314T>A (n.*1314T>A) c.*2838T>A (n.*2838T>A) c.2588T>A (p.Ile863Lys) c.605T>A (p.Ile202Lys) c.664T>A c.1796T>A (p.Ile599Lys) c.2924T>A (p.Ile975Lys) c.3104T>A (p.Ile1035Lys) c.2771T>A (p.Ile924Lys) | |
| 7 | g.117610544T>C | CA368990413 | CFTR | c.3014T>C (p.Ile1005Thr) c.*2728T>C (n.*2728T>C) c.2831T>C (p.Ile944Thr) c.*1314T>C (n.*1314T>C) c.*2838T>C (n.*2838T>C) c.2588T>C (p.Ile863Thr) c.605T>C (p.Ile202Thr) c.664T>C c.1796T>C (p.Ile599Thr) c.2924T>C (p.Ile975Thr) c.3104T>C (p.Ile1035Thr) c.2771T>C (p.Ile924Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117610544T>G | CA327012 | CFTR | c.3014T>G (p.Ile1005Arg) c.*2728T>G (n.*2728T>G) c.2831T>G (p.Ile944Arg) c.*1314T>G (n.*1314T>G) c.*2838T>G (n.*2838T>G) c.2588T>G (p.Ile863Arg) c.605T>G (p.Ile202Arg) c.664T>G c.1796T>G (p.Ile599Arg) c.2924T>G (p.Ile975Arg) c.3104T>G (p.Ile1035Arg) c.2771T>G (p.Ile924Arg) | ClinVar dbSNP ExAC |
| 7 | g.117610544T= | CA1737384770 | CFTR | c.3014T= (p.Ile1005=) c.*2728T= (n.*2728T=) c.2831T= (p.Ile944=) c.*1314T= (n.*1314T=) c.*2838T= (n.*2838T=) c.2588T= (p.Ile863=) c.605T= (p.Ile202=) c.664T= c.1796T= (p.Ile599=) c.2924T= (p.Ile975=) c.3104T= (p.Ile1035=) c.2771T= (p.Ile924=) | |
| 7 | g.117610544dup | CA916082312 | CFTR | c.3014dup (p.Ala1006SerfsTer?) c.*2728dup (n.*2728dup) c.2831dup (p.Ala945SerfsTer?) c.*1314dup (n.*1314dup) c.*2838dup (n.*2838dup) c.2588dup (p.Ala864SerfsTer?) c.605dup (p.Ala203SerfsTer?) c.664dup c.1796dup (p.Ala600SerfsTer?) c.2924dup (p.Ala976SerfsTer?) c.3104dup (p.Ala1036SerfsTer?) c.2771dup (p.Ala925SerfsTer?) | ClinVar dbSNP |
| 7 | g.117610545A>C | CA457229362 | CFTR | c.3015A>C (p.Ile1005=) c.*2729A>C (n.*2729A>C) c.2832A>C (p.Ile944=) c.*1315A>C (n.*1315A>C) c.*2839A>C (n.*2839A>C) c.2589A>C (p.Ile863=) c.606A>C (p.Ile202=) c.665A>C c.1797A>C (p.Ile599=) c.2925A>C (p.Ile975=) c.3105A>C (p.Ile1035=) c.2772A>C (p.Ile924=) | |
| 7 | g.117610545A>G | CA368990419 | CFTR | c.3015A>G (p.Ile1005Met) c.*2729A>G (n.*2729A>G) c.2832A>G (p.Ile944Met) c.*1315A>G (n.*1315A>G) c.*2839A>G (n.*2839A>G) c.2589A>G (p.Ile863Met) c.606A>G (p.Ile202Met) c.665A>G c.1797A>G (p.Ile599Met) c.2925A>G (p.Ile975Met) c.3105A>G (p.Ile1035Met) c.2772A>G (p.Ile924Met) | |
| 7 | g.117610545A>T | CA457229363 | CFTR | c.3015A>T (p.Ile1005=) c.*2729A>T (n.*2729A>T) c.2832A>T (p.Ile944=) c.*1315A>T (n.*1315A>T) c.*2839A>T (n.*2839A>T) c.2589A>T (p.Ile863=) c.606A>T (p.Ile202=) c.665A>T c.1797A>T (p.Ile599=) c.2925A>T (p.Ile975=) c.3105A>T (p.Ile1035=) c.2772A>T (p.Ile924=) | |
| 7 | g.117610546G>A | CA4451364 | CFTR | c.3016G>A (p.Ala1006Thr) c.*2730G>A (n.*2730G>A) c.2833G>A (p.Ala945Thr) c.*1316G>A (n.*1316G>A) c.*2840G>A (n.*2840G>A) c.2590G>A (p.Ala864Thr) c.607G>A (p.Ala203Thr) c.666G>A c.1798G>A (p.Ala600Thr) c.2926G>A (p.Ala976Thr) c.3106G>A (p.Ala1036Thr) c.2773G>A (p.Ala925Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610546G>C | CA368990422 | CFTR | c.3016G>C (p.Ala1006Pro) c.*2730G>C (n.*2730G>C) c.2833G>C (p.Ala945Pro) c.*1316G>C (n.*1316G>C) c.*2840G>C (n.*2840G>C) c.2590G>C (p.Ala864Pro) c.607G>C (p.Ala203Pro) c.666G>C c.1798G>C (p.Ala600Pro) c.2926G>C (p.Ala976Pro) c.3106G>C (p.Ala1036Pro) c.2773G>C (p.Ala925Pro) | |
| 7 | g.117610546G= | CA1737384781 | CFTR | c.3016G= (p.Ala1006=) c.*2730G= (n.*2730G=) c.2833G= (p.Ala945=) c.*1316G= (n.*1316G=) c.*2840G= (n.*2840G=) c.2590G= (p.Ala864=) c.607G= (p.Ala203=) c.666G= c.1798G= (p.Ala600=) c.2926G= (p.Ala976=) c.3106G= (p.Ala1036=) c.2773G= (p.Ala925=) | |
| 7 | g.117610546G>T | CA368990425 | CFTR | c.3016G>T (p.Ala1006Ser) c.*2730G>T (n.*2730G>T) c.2833G>T (p.Ala945Ser) c.*1316G>T (n.*1316G>T) c.*2840G>T (n.*2840G>T) c.2590G>T (p.Ala864Ser) c.607G>T (p.Ala203Ser) c.666G>T c.1798G>T (p.Ala600Ser) c.2926G>T (p.Ala976Ser) c.3106G>T (p.Ala1036Ser) c.2773G>T (p.Ala925Ser) | |
| 7 | g.117610547C>A | CA327013 | CFTR | c.3017C>A (p.Ala1006Glu) c.*2731C>A (n.*2731C>A) c.2834C>A (p.Ala945Glu) c.*1317C>A (n.*1317C>A) c.*2841C>A (n.*2841C>A) c.2591C>A (p.Ala864Glu) c.608C>A (p.Ala203Glu) c.667C>A c.1799C>A (p.Ala600Glu) c.2927C>A (p.Ala976Glu) c.3107C>A (p.Ala1036Glu) c.2774C>A (p.Ala925Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610547C= | CA1737384786 | CFTR | c.3017C= (p.Ala1006=) c.*2731C= (n.*2731C=) c.2834C= (p.Ala945=) c.*1317C= (n.*1317C=) c.*2841C= (n.*2841C=) c.2591C= (p.Ala864=) c.608C= (p.Ala203=) c.667C= c.1799C= (p.Ala600=) c.2927C= (p.Ala976=) c.3107C= (p.Ala1036=) c.2774C= (p.Ala925=) | |
| 7 | g.117610547C>G | CA368990430 | CFTR | c.3017C>G (p.Ala1006Gly) c.*2731C>G (n.*2731C>G) c.2834C>G (p.Ala945Gly) c.*1317C>G (n.*1317C>G) c.*2841C>G (n.*2841C>G) c.2591C>G (p.Ala864Gly) c.608C>G (p.Ala203Gly) c.667C>G c.1799C>G (p.Ala600Gly) c.2927C>G (p.Ala976Gly) c.3107C>G (p.Ala1036Gly) c.2774C>G (p.Ala925Gly) | |
| 7 | g.117610547C>T | CA368990431 | CFTR | c.3017C>T (p.Ala1006Val) c.*2731C>T (n.*2731C>T) c.2834C>T (p.Ala945Val) c.*1317C>T (n.*1317C>T) c.*2841C>T (n.*2841C>T) c.2591C>T (p.Ala864Val) c.608C>T (p.Ala203Val) c.667C>T c.1799C>T (p.Ala600Val) c.2927C>T (p.Ala976Val) c.3107C>T (p.Ala1036Val) c.2774C>T (p.Ala925Val) | |
| 7 | g.117610548A>C | CA457229364 | CFTR | c.3018A>C (p.Ala1006=) c.*2732A>C (n.*2732A>C) c.2835A>C (p.Ala945=) c.*1318A>C (n.*1318A>C) c.*2842A>C (n.*2842A>C) c.2592A>C (p.Ala864=) c.609A>C (p.Ala203=) c.668A>C c.1800A>C (p.Ala600=) c.2928A>C (p.Ala976=) c.3108A>C (p.Ala1036=) c.2775A>C (p.Ala925=) | |
| 7 | g.117610548A>G | CA457229365 | CFTR | c.3018A>G (p.Ala1006=) c.*2732A>G (n.*2732A>G) c.2835A>G (p.Ala945=) c.*1318A>G (n.*1318A>G) c.*2842A>G (n.*2842A>G) c.2592A>G (p.Ala864=) c.609A>G (p.Ala203=) c.668A>G c.1800A>G (p.Ala600=) c.2928A>G (p.Ala976=) c.3108A>G (p.Ala1036=) c.2775A>G (p.Ala925=) | |
| 7 | g.117610548A>T | CA457229366 | CFTR | c.3018A>T (p.Ala1006=) c.*2732A>T (n.*2732A>T) c.2835A>T (p.Ala945=) c.*1318A>T (n.*1318A>T) c.*2842A>T (n.*2842A>T) c.2592A>T (p.Ala864=) c.609A>T (p.Ala203=) c.668A>T c.1800A>T (p.Ala600=) c.2928A>T (p.Ala976=) c.3108A>T (p.Ala1036=) c.2775A>T (p.Ala925=) | |
| 7 | g.117610549G>A | CA368990434 | CFTR | c.3019G>A (p.Val1007Ile) c.*2733G>A (n.*2733G>A) c.2836G>A (p.Val946Ile) c.*1319G>A (n.*1319G>A) c.*2843G>A (n.*2843G>A) c.2593G>A (p.Val865Ile) c.610G>A (p.Val204Ile) c.669G>A c.1801G>A (p.Val601Ile) c.2929G>A (p.Val977Ile) c.3109G>A (p.Val1037Ile) c.2776G>A (p.Val926Ile) | |
| 7 | g.117610549G>C | CA368990436 | CFTR | c.3019G>C (p.Val1007Leu) c.*2733G>C (n.*2733G>C) c.2836G>C (p.Val946Leu) c.*1319G>C (n.*1319G>C) c.*2843G>C (n.*2843G>C) c.2593G>C (p.Val865Leu) c.610G>C (p.Val204Leu) c.669G>C c.1801G>C (p.Val601Leu) c.2929G>C (p.Val977Leu) c.3109G>C (p.Val1037Leu) c.2776G>C (p.Val926Leu) | |
| 7 | g.117610549G>T | CA368990439 | CFTR | c.3019G>T (p.Val1007Phe) c.*2733G>T (n.*2733G>T) c.2836G>T (p.Val946Phe) c.*1319G>T (n.*1319G>T) c.*2843G>T (n.*2843G>T) c.2593G>T (p.Val865Phe) c.610G>T (p.Val204Phe) c.669G>T c.1801G>T (p.Val601Phe) c.2929G>T (p.Val977Phe) c.3109G>T (p.Val1037Phe) c.2776G>T (p.Val926Phe) | |
| 7 | g.117610549_117610550delinsGT | CA1737384790 | CFTR | c.3019_3020delinsGT (p.Val1007=) c.*2733_*2734delinsGT (n.*2733_*2734delinsGT) c.2836_2837delinsGT (p.Val946=) c.*1319_*1320delinsGT (n.*1319_*1320delinsGT) c.*2843_*2844delinsGT (n.*2843_*2844delinsGT) c.2593_2594delinsGT (p.Val865=) c.610_611delinsGT (p.Val204=) c.669_670delinsGT c.1801_1802delinsGT (p.Val601=) c.2929_2930delinsGT (p.Val977=) c.3109_3110delinsGT (p.Val1037=) c.2776_2777delinsGT (p.Val926=) | |
| 7 | g.117610550T>A | CA368990452 | CFTR | c.3020T>A (p.Val1007Asp) c.*2734T>A (n.*2734T>A) c.2837T>A (p.Val946Asp) c.*1320T>A (n.*1320T>A) c.*2844T>A (n.*2844T>A) c.2594T>A (p.Val865Asp) c.611T>A (p.Val204Asp) c.670T>A c.1802T>A (p.Val601Asp) c.2930T>A (p.Val977Asp) c.3110T>A (p.Val1037Asp) c.2777T>A (p.Val926Asp) | |
| 7 | g.117610550T>C | CA368990445 | CFTR | c.3020T>C (p.Val1007Ala) c.*2734T>C (n.*2734T>C) c.2837T>C (p.Val946Ala) c.*1320T>C (n.*1320T>C) c.*2844T>C (n.*2844T>C) c.2594T>C (p.Val865Ala) c.611T>C (p.Val204Ala) c.670T>C c.1802T>C (p.Val601Ala) c.2930T>C (p.Val977Ala) c.3110T>C (p.Val1037Ala) c.2777T>C (p.Val926Ala) | |
| 7 | g.117610550T>G | CA368990449 | CFTR | c.3020T>G (p.Val1007Gly) c.*2734T>G (n.*2734T>G) c.2837T>G (p.Val946Gly) c.*1320T>G (n.*1320T>G) c.*2844T>G (n.*2844T>G) c.2594T>G (p.Val865Gly) c.611T>G (p.Val204Gly) c.670T>G c.1802T>G (p.Val601Gly) c.2930T>G (p.Val977Gly) c.3110T>G (p.Val1037Gly) c.2777T>G (p.Val926Gly) | |
| 7 | g.117610551del | CA327014 | CFTR | c.3021del (p.Val1008SerfsTer15) c.*2735del (n.*2735del) c.2838del (p.Val947SerfsTer15) c.*1321del (n.*1321del) c.*2845del (n.*2845del) c.2595del (p.Val866SerfsTer15) c.612del (p.Val205SerfsTer15) c.671del c.1803del (p.Val602SerfsTer15) c.2931del (p.Val978SerfsTer15) c.3111del (p.Val1038SerfsTer15) c.2778del (p.Val927SerfsTer15) | ClinVar dbSNP |
| 7 | g.117610551T>A | CA457229367 | CFTR | c.3021T>A (p.Val1007=) c.*2735T>A (n.*2735T>A) c.2838T>A (p.Val946=) c.*1321T>A (n.*1321T>A) c.*2845T>A (n.*2845T>A) c.2595T>A (p.Val865=) c.612T>A (p.Val204=) c.671T>A c.1803T>A (p.Val601=) c.2931T>A (p.Val977=) c.3111T>A (p.Val1037=) c.2778T>A (p.Val926=) | |
| 7 | g.117610551T>C | CA457229368 | CFTR | c.3021T>C (p.Val1007=) c.*2735T>C (n.*2735T>C) c.2838T>C (p.Val946=) c.*1321T>C (n.*1321T>C) c.*2845T>C (n.*2845T>C) c.2595T>C (p.Val865=) c.612T>C (p.Val204=) c.671T>C c.1803T>C (p.Val601=) c.2931T>C (p.Val977=) c.3111T>C (p.Val1037=) c.2778T>C (p.Val926=) | |
| 7 | g.117610551T>G | CA457229369 | CFTR | c.3021T>G (p.Val1007=) c.*2735T>G (n.*2735T>G) c.2838T>G (p.Val946=) c.*1321T>G (n.*1321T>G) c.*2845T>G (n.*2845T>G) c.2595T>G (p.Val865=) c.612T>G (p.Val204=) c.671T>G c.1803T>G (p.Val601=) c.2931T>G (p.Val977=) c.3111T>G (p.Val1037=) c.2778T>G (p.Val926=) | |
| 7 | g.117610551_117610552delinsTG | CA1737384802 | CFTR | c.3021_3022delinsTG (p.Val1007=) c.*2735_*2736delinsTG (n.*2735_*2736delinsTG) c.2838_2839delinsTG (p.Val946=) c.*1321_*1322delinsTG (n.*1321_*1322delinsTG) c.*2845_*2846delinsTG (n.*2845_*2846delinsTG) c.2595_2596delinsTG (p.Val865=) c.612_613delinsTG (p.Val204=) c.671_672delinsTG c.1803_1804delinsTG (p.Val601=) c.2931_2932delinsTG (p.Val977=) c.3111_3112delinsTG (p.Val1037=) c.2778_2779delinsTG (p.Val926=) | |
| 7 | g.117610552del | CA327015 | CFTR | c.3022del (p.Val1008SerfsTer15) c.*2736del (n.*2736del) c.2839del (p.Val947SerfsTer15) c.*1322del (n.*1322del) c.*2846del (n.*2846del) c.2596del (p.Val866SerfsTer15) c.613del (p.Val205SerfsTer15) c.672del c.1804del (p.Val602SerfsTer15) c.2932del (p.Val978SerfsTer15) c.3112del (p.Val1038SerfsTer15) c.2779del (p.Val927SerfsTer15) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610552G>A | CA368990455 | CFTR | c.3022G>A (p.Val1008Ile) c.*2736G>A (n.*2736G>A) c.2839G>A (p.Val947Ile) c.*1322G>A (n.*1322G>A) c.*2846G>A (n.*2846G>A) c.2596G>A (p.Val866Ile) c.613G>A (p.Val205Ile) c.672G>A c.1804G>A (p.Val602Ile) c.2932G>A (p.Val978Ile) c.3112G>A (p.Val1038Ile) c.2779G>A (p.Val927Ile) | |
| 7 | g.117610552G>C | CA368990458 | CFTR | c.3022G>C (p.Val1008Leu) c.*2736G>C (n.*2736G>C) c.2839G>C (p.Val947Leu) c.*1322G>C (n.*1322G>C) c.*2846G>C (n.*2846G>C) c.2596G>C (p.Val866Leu) c.613G>C (p.Val205Leu) c.672G>C c.1804G>C (p.Val602Leu) c.2932G>C (p.Val978Leu) c.3112G>C (p.Val1038Leu) c.2779G>C (p.Val927Leu) | |
| 7 | g.117610552G>T | CA368990460 | CFTR | c.3022G>T (p.Val1008Phe) c.*2736G>T (n.*2736G>T) c.2839G>T (p.Val947Phe) c.*1322G>T (n.*1322G>T) c.*2846G>T (n.*2846G>T) c.2596G>T (p.Val866Phe) c.613G>T (p.Val205Phe) c.672G>T c.1804G>T (p.Val602Phe) c.2932G>T (p.Val978Phe) c.3112G>T (p.Val1038Phe) c.2779G>T (p.Val927Phe) | |
| 7 | g.117610553T>A | CA327016 | CFTR | c.3023T>A (p.Val1008Asp) c.*2737T>A (n.*2737T>A) c.2840T>A (p.Val947Asp) c.*1323T>A (n.*1323T>A) c.*2847T>A (n.*2847T>A) c.2597T>A (p.Val866Asp) c.614T>A (p.Val205Asp) c.673T>A c.1805T>A (p.Val602Asp) c.2933T>A (p.Val978Asp) c.3113T>A (p.Val1038Asp) c.2780T>A (p.Val927Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610553T>C | CA368990468 | CFTR | c.3023T>C (p.Val1008Ala) c.*2737T>C (n.*2737T>C) c.2840T>C (p.Val947Ala) c.*1323T>C (n.*1323T>C) c.*2847T>C (n.*2847T>C) c.2597T>C (p.Val866Ala) c.614T>C (p.Val205Ala) c.673T>C c.1805T>C (p.Val602Ala) c.2933T>C (p.Val978Ala) c.3113T>C (p.Val1038Ala) c.2780T>C (p.Val927Ala) | |
| 7 | g.117610553T>G | CA368990466 | CFTR | c.3023T>G (p.Val1008Gly) c.*2737T>G (n.*2737T>G) c.2840T>G (p.Val947Gly) c.*1323T>G (n.*1323T>G) c.*2847T>G (n.*2847T>G) c.2597T>G (p.Val866Gly) c.614T>G (p.Val205Gly) c.673T>G c.1805T>G (p.Val602Gly) c.2933T>G (p.Val978Gly) c.3113T>G (p.Val1038Gly) c.2780T>G (p.Val927Gly) | |
| 7 | g.117610553T= | CA1737384812 | CFTR | c.3023T= (p.Val1008=) c.*2737T= (n.*2737T=) c.2840T= (p.Val947=) c.*1323T= (n.*1323T=) c.*2847T= (n.*2847T=) c.2597T= (p.Val866=) c.614T= (p.Val205=) c.673T= c.1805T= (p.Val602=) c.2933T= (p.Val978=) c.3113T= (p.Val1038=) c.2780T= (p.Val927=) | |
| 7 | g.117610554C>A | CA457229370 | CFTR | c.3024C>A (p.Val1008=) c.*2738C>A (n.*2738C>A) c.2841C>A (p.Val947=) c.*1324C>A (n.*1324C>A) c.*2848C>A (n.*2848C>A) c.2598C>A (p.Val866=) c.615C>A (p.Val205=) c.674C>A c.1806C>A (p.Val602=) c.2934C>A (p.Val978=) c.3114C>A (p.Val1038=) c.2781C>A (p.Val927=) | |
| 7 | g.117610554C= | CA1737384818 | CFTR | c.3024C= (p.Val1008=) c.*2738C= (n.*2738C=) c.2841C= (p.Val947=) c.*1324C= (n.*1324C=) c.*2848C= (n.*2848C=) c.2598C= (p.Val866=) c.615C= (p.Val205=) c.674C= c.1806C= (p.Val602=) c.2934C= (p.Val978=) c.3114C= (p.Val1038=) c.2781C= (p.Val927=) | |
| 7 | g.117610554C>G | CA457229371 | CFTR | c.3024C>G (p.Val1008=) c.*2738C>G (n.*2738C>G) c.2841C>G (p.Val947=) c.*1324C>G (n.*1324C>G) c.*2848C>G (n.*2848C>G) c.2598C>G (p.Val866=) c.615C>G (p.Val205=) c.674C>G c.1806C>G (p.Val602=) c.2934C>G (p.Val978=) c.3114C>G (p.Val1038=) c.2781C>G (p.Val927=) | |
| 7 | g.117610554C>T | CA241137 | CFTR | c.3024C>T (p.Val1008=) c.*2738C>T (n.*2738C>T) c.2841C>T (p.Val947=) c.*1324C>T (n.*1324C>T) c.*2848C>T (n.*2848C>T) c.2598C>T (p.Val866=) c.615C>T (p.Val205=) c.674C>T c.1806C>T (p.Val602=) c.2934C>T (p.Val978=) c.3114C>T (p.Val1038=) c.2781C>T (p.Val927=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610555G>A | CA241139 | CFTR | c.3025G>A (p.Ala1009Thr) c.*2739G>A (n.*2739G>A) c.2842G>A (p.Ala948Thr) c.*1325G>A (n.*1325G>A) c.*2849G>A (n.*2849G>A) c.2599G>A (p.Ala867Thr) c.616G>A (p.Ala206Thr) c.675G>A c.1807G>A (p.Ala603Thr) c.2935G>A (p.Ala979Thr) c.3115G>A (p.Ala1039Thr) c.2782G>A (p.Ala928Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610555G>C | CA368990476 | CFTR | c.3025G>C (p.Ala1009Pro) c.*2739G>C (n.*2739G>C) c.2842G>C (p.Ala948Pro) c.*1325G>C (n.*1325G>C) c.*2849G>C (n.*2849G>C) c.2599G>C (p.Ala867Pro) c.616G>C (p.Ala206Pro) c.675G>C c.1807G>C (p.Ala603Pro) c.2935G>C (p.Ala979Pro) c.3115G>C (p.Ala1039Pro) c.2782G>C (p.Ala928Pro) | |
| 7 | g.117610555G= | CA1737384823 | CFTR | c.3025G= (p.Ala1009=) c.*2739G= (n.*2739G=) c.2842G= (p.Ala948=) c.*1325G= (n.*1325G=) c.*2849G= (n.*2849G=) c.2599G= (p.Ala867=) c.616G= (p.Ala206=) c.675G= c.1807G= (p.Ala603=) c.2935G= (p.Ala979=) c.3115G= (p.Ala1039=) c.2782G= (p.Ala928=) | |
| 7 | g.117610555G>T | CA368990479 | CFTR | c.3025G>T (p.Ala1009Ser) c.*2739G>T (n.*2739G>T) c.2842G>T (p.Ala948Ser) c.*1325G>T (n.*1325G>T) c.*2849G>T (n.*2849G>T) c.2599G>T (p.Ala867Ser) c.616G>T (p.Ala206Ser) c.675G>T c.1807G>T (p.Ala603Ser) c.2935G>T (p.Ala979Ser) c.3115G>T (p.Ala1039Ser) c.2782G>T (p.Ala928Ser) | ClinVar dbSNP |
| 7 | g.117610556C>A | CA368990483 | CFTR | c.3026C>A (p.Ala1009Glu) c.*2740C>A (n.*2740C>A) c.2843C>A (p.Ala948Glu) c.*1326C>A (n.*1326C>A) c.*2850C>A (n.*2850C>A) c.2600C>A (p.Ala867Glu) c.617C>A (p.Ala206Glu) c.676C>A c.1808C>A (p.Ala603Glu) c.2936C>A (p.Ala979Glu) c.3116C>A (p.Ala1039Glu) c.2783C>A (p.Ala928Glu) | |
| 7 | g.117610556C= | CA1737384830 | CFTR | c.3026C= (p.Ala1009=) c.*2740C= (n.*2740C=) c.2843C= (p.Ala948=) c.*1326C= (n.*1326C=) c.*2850C= (n.*2850C=) c.2600C= (p.Ala867=) c.617C= (p.Ala206=) c.676C= c.1808C= (p.Ala603=) c.2936C= (p.Ala979=) c.3116C= (p.Ala1039=) c.2783C= (p.Ala928=) | |
| 7 | g.117610556C>G | CA368990485 | CFTR | c.3026C>G (p.Ala1009Gly) c.*2740C>G (n.*2740C>G) c.2843C>G (p.Ala948Gly) c.*1326C>G (n.*1326C>G) c.*2850C>G (n.*2850C>G) c.2600C>G (p.Ala867Gly) c.617C>G (p.Ala206Gly) c.676C>G c.1808C>G (p.Ala603Gly) c.2936C>G (p.Ala979Gly) c.3116C>G (p.Ala1039Gly) c.2783C>G (p.Ala928Gly) | |
| 7 | g.117610556C>T | CA4451365 | CFTR | c.3026C>T (p.Ala1009Val) c.*2740C>T (n.*2740C>T) c.2843C>T (p.Ala948Val) c.*1326C>T (n.*1326C>T) c.*2850C>T (n.*2850C>T) c.2600C>T (p.Ala867Val) c.617C>T (p.Ala206Val) c.676C>T c.1808C>T (p.Ala603Val) c.2936C>T (p.Ala979Val) c.3116C>T (p.Ala1039Val) c.2783C>T (p.Ala928Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610557A= | CA1737384834 | CFTR | c.3027A= (p.Ala1009=) c.*2741A= (n.*2741A=) c.2844A= (p.Ala948=) c.*1327A= (n.*1327A=) c.*2851A= (n.*2851A=) c.2601A= (p.Ala867=) c.618A= (p.Ala206=) c.677A= c.1809A= (p.Ala603=) c.2937A= (p.Ala979=) c.3117A= (p.Ala1039=) c.2784A= (p.Ala928=) | |
| 7 | g.117610557A>C | CA457229372 | CFTR | c.3027A>C (p.Ala1009=) c.*2741A>C (n.*2741A>C) c.2844A>C (p.Ala948=) c.*1327A>C (n.*1327A>C) c.*2851A>C (n.*2851A>C) c.2601A>C (p.Ala867=) c.618A>C (p.Ala206=) c.677A>C c.1809A>C (p.Ala603=) c.2937A>C (p.Ala979=) c.3117A>C (p.Ala1039=) c.2784A>C (p.Ala928=) | |
| 7 | g.117610557A>G | CA457229373 | CFTR | c.3027A>G (p.Ala1009=) c.*2741A>G (n.*2741A>G) c.2844A>G (p.Ala948=) c.*1327A>G (n.*1327A>G) c.*2851A>G (n.*2851A>G) c.2601A>G (p.Ala867=) c.618A>G (p.Ala206=) c.677A>G c.1809A>G (p.Ala603=) c.2937A>G (p.Ala979=) c.3117A>G (p.Ala1039=) c.2784A>G (p.Ala928=) | ClinVar gnomAD v4 |
| 7 | g.117610557A>T | CA457229374 | CFTR | c.3027A>T (p.Ala1009=) c.*2741A>T (n.*2741A>T) c.2844A>T (p.Ala948=) c.*1327A>T (n.*1327A>T) c.*2851A>T (n.*2851A>T) c.2601A>T (p.Ala867=) c.618A>T (p.Ala206=) c.677A>T c.1809A>T (p.Ala603=) c.2937A>T (p.Ala979=) c.3117A>T (p.Ala1039=) c.2784A>T (p.Ala928=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610558G>A | CA368990489 | CFTR | c.3028G>A (p.Val1010Ile) c.*2742G>A (n.*2742G>A) c.2845G>A (p.Val949Ile) c.*1328G>A (n.*1328G>A) c.*2852G>A (n.*2852G>A) c.2602G>A (p.Val868Ile) c.619G>A (p.Val207Ile) c.678G>A c.1810G>A (p.Val604Ile) c.2938G>A (p.Val980Ile) c.3118G>A (p.Val1040Ile) c.2785G>A (p.Val929Ile) | |
| 7 | g.117610558G>C | CA368990491 | CFTR | c.3028G>C (p.Val1010Leu) c.*2742G>C (n.*2742G>C) c.2845G>C (p.Val949Leu) c.*1328G>C (n.*1328G>C) c.*2852G>C (n.*2852G>C) c.2602G>C (p.Val868Leu) c.619G>C (p.Val207Leu) c.678G>C c.1810G>C (p.Val604Leu) c.2938G>C (p.Val980Leu) c.3118G>C (p.Val1040Leu) c.2785G>C (p.Val929Leu) | |
| 7 | g.117610558G>T | CA368990492 | CFTR | c.3028G>T (p.Val1010Phe) c.*2742G>T (n.*2742G>T) c.2845G>T (p.Val949Phe) c.*1328G>T (n.*1328G>T) c.*2852G>T (n.*2852G>T) c.2602G>T (p.Val868Phe) c.619G>T (p.Val207Phe) c.678G>T c.1810G>T (p.Val604Phe) c.2938G>T (p.Val980Phe) c.3118G>T (p.Val1040Phe) c.2785G>T (p.Val929Phe) | |
| 7 | g.117610559T>A | CA368990499 | CFTR | c.3029T>A (p.Val1010Asp) c.*2743T>A (n.*2743T>A) c.2846T>A (p.Val949Asp) c.*1329T>A (n.*1329T>A) c.*2853T>A (n.*2853T>A) c.2603T>A (p.Val868Asp) c.620T>A (p.Val207Asp) c.679T>A c.1811T>A (p.Val604Asp) c.2939T>A (p.Val980Asp) c.3119T>A (p.Val1040Asp) c.2786T>A (p.Val929Asp) | gnomAD v4 |
| 7 | g.117610559T>C | CA368990498 | CFTR | c.3029T>C (p.Val1010Ala) c.*2743T>C (n.*2743T>C) c.2846T>C (p.Val949Ala) c.*1329T>C (n.*1329T>C) c.*2853T>C (n.*2853T>C) c.2603T>C (p.Val868Ala) c.620T>C (p.Val207Ala) c.679T>C c.1811T>C (p.Val604Ala) c.2939T>C (p.Val980Ala) c.3119T>C (p.Val1040Ala) c.2786T>C (p.Val929Ala) | |
| 7 | g.117610559T>G | CA368990495 | CFTR | c.3029T>G (p.Val1010Gly) c.*2743T>G (n.*2743T>G) c.2846T>G (p.Val949Gly) c.*1329T>G (n.*1329T>G) c.*2853T>G (n.*2853T>G) c.2603T>G (p.Val868Gly) c.620T>G (p.Val207Gly) c.679T>G c.1811T>G (p.Val604Gly) c.2939T>G (p.Val980Gly) c.3119T>G (p.Val1040Gly) c.2786T>G (p.Val929Gly) | |
| 7 | g.117610562del | CA2695208429 | CFTR | c.3032del (p.Leu1011TyrfsTer12) c.*2746del (n.*2746del) c.2849del (p.Leu950TyrfsTer12) c.*1332del (n.*1332del) c.*2856del (n.*2856del) c.2606del (p.Leu869TyrfsTer12) c.623del (p.Leu208TyrfsTer12) c.682del c.1814del (p.Leu605TyrfsTer12) c.2942del (p.Leu981TyrfsTer12) c.3122del (p.Leu1041TyrfsTer12) c.2789del (p.Leu930TyrfsTer12) | |
| 7 | g.117610560T>A | CA457229375 | CFTR | c.3030T>A (p.Val1010=) c.*2744T>A (n.*2744T>A) c.2847T>A (p.Val949=) c.*1330T>A (n.*1330T>A) c.*2854T>A (n.*2854T>A) c.2604T>A (p.Val868=) c.621T>A (p.Val207=) c.680T>A c.1812T>A (p.Val604=) c.2940T>A (p.Val980=) c.3120T>A (p.Val1040=) c.2787T>A (p.Val929=) | |
| 7 | g.117610560T>C | CA457229376 | CFTR | c.3030T>C (p.Val1010=) c.*2744T>C (n.*2744T>C) c.2847T>C (p.Val949=) c.*1330T>C (n.*1330T>C) c.*2854T>C (n.*2854T>C) c.2604T>C (p.Val868=) c.621T>C (p.Val207=) c.680T>C c.1812T>C (p.Val604=) c.2940T>C (p.Val980=) c.3120T>C (p.Val1040=) c.2787T>C (p.Val929=) | |
| 7 | g.117610560T>G | CA457229377 | CFTR | c.3030T>G (p.Val1010=) c.*2744T>G (n.*2744T>G) c.2847T>G (p.Val949=) c.*1330T>G (n.*1330T>G) c.*2854T>G (n.*2854T>G) c.2604T>G (p.Val868=) c.621T>G (p.Val207=) c.680T>G c.1812T>G (p.Val604=) c.2940T>G (p.Val980=) c.3120T>G (p.Val1040=) c.2787T>G (p.Val929=) | |
| 7 | g.117610561T>A | CA368990503 | CFTR | c.3031T>A (p.Leu1011Ile) c.*2745T>A (n.*2745T>A) c.2848T>A (p.Leu950Ile) c.*1331T>A (n.*1331T>A) c.*2855T>A (n.*2855T>A) c.2605T>A (p.Leu869Ile) c.622T>A (p.Leu208Ile) c.681T>A c.1813T>A (p.Leu605Ile) c.2941T>A (p.Leu981Ile) c.3121T>A (p.Leu1041Ile) c.2788T>A (p.Leu930Ile) | |
| 7 | g.117610561T>C | CA457229378 | CFTR | c.3031T>C (p.Leu1011=) c.*2745T>C (n.*2745T>C) c.2848T>C (p.Leu950=) c.*1331T>C (n.*1331T>C) c.*2855T>C (n.*2855T>C) c.2605T>C (p.Leu869=) c.622T>C (p.Leu208=) c.681T>C c.1813T>C (p.Leu605=) c.2941T>C (p.Leu981=) c.3121T>C (p.Leu1041=) c.2788T>C (p.Leu930=) | |
| 7 | g.117610561T>G | CA368990505 | CFTR | c.3031T>G (p.Leu1011Val) c.*2745T>G (n.*2745T>G) c.2848T>G (p.Leu950Val) c.*1331T>G (n.*1331T>G) c.*2855T>G (n.*2855T>G) c.2605T>G (p.Leu869Val) c.622T>G (p.Leu208Val) c.681T>G c.1813T>G (p.Leu605Val) c.2941T>G (p.Leu981Val) c.3121T>G (p.Leu1041Val) c.2788T>G (p.Leu930Val) | |
| 7 | g.117610562T>A | CA368990508 | CFTR | c.3032T>A (p.Leu1011Ter) c.*2746T>A (n.*2746T>A) c.2849T>A (p.Leu950Ter) c.*1332T>A (n.*1332T>A) c.*2856T>A (n.*2856T>A) c.2606T>A (p.Leu869Ter) c.623T>A (p.Leu208Ter) c.682T>A c.1814T>A (p.Leu605Ter) c.2942T>A (p.Leu981Ter) c.3122T>A (p.Leu1041Ter) c.2789T>A (p.Leu930Ter) | |
| 7 | g.117610562T>C | CA368990510 | CFTR | c.3032T>C (p.Leu1011Ser) c.*2746T>C (n.*2746T>C) c.2849T>C (p.Leu950Ser) c.*1332T>C (n.*1332T>C) c.*2856T>C (n.*2856T>C) c.2606T>C (p.Leu869Ser) c.623T>C (p.Leu208Ser) c.682T>C c.1814T>C (p.Leu605Ser) c.2942T>C (p.Leu981Ser) c.3122T>C (p.Leu1041Ser) c.2789T>C (p.Leu930Ser) | |
| 7 | g.117610562T>G | CA368990512 | CFTR | c.3032T>G (p.Leu1011Ter) c.*2746T>G (n.*2746T>G) c.2849T>G (p.Leu950Ter) c.*1332T>G (n.*1332T>G) c.*2856T>G (n.*2856T>G) c.2606T>G (p.Leu869Ter) c.623T>G (p.Leu208Ter) c.682T>G c.1814T>G (p.Leu605Ter) c.2942T>G (p.Leu981Ter) c.3122T>G (p.Leu1041Ter) c.2789T>G (p.Leu930Ter) | ClinVar dbSNP |
| 7 | g.117610562T= | CA1737384841 | CFTR | c.3032T= (p.Leu1011=) c.*2746T= (n.*2746T=) c.2849T= (p.Leu950=) c.*1332T= (n.*1332T=) c.*2856T= (n.*2856T=) c.2606T= (p.Leu869=) c.623T= (p.Leu208=) c.682T= c.1814T= (p.Leu605=) c.2942T= (p.Leu981=) c.3122T= (p.Leu1041=) c.2789T= (p.Leu930=) | |
| 7 | g.117610563A= | CA1737384845 | CFTR | c.3033A= (p.Leu1011=) c.*2747A= (n.*2747A=) c.2850A= (p.Leu950=) c.*1333A= (n.*1333A=) c.*2857A= (n.*2857A=) c.2607A= (p.Leu869=) c.624A= (p.Leu208=) c.683A= c.1815A= (p.Leu605=) c.2943A= (p.Leu981=) c.3123A= (p.Leu1041=) c.2790A= (p.Leu930=) | |
| 7 | g.117610563A>C | CA368990519 | CFTR | c.3033A>C (p.Leu1011Phe) c.*2747A>C (n.*2747A>C) c.2850A>C (p.Leu950Phe) c.*1333A>C (n.*1333A>C) c.*2857A>C (n.*2857A>C) c.2607A>C (p.Leu869Phe) c.624A>C (p.Leu208Phe) c.683A>C c.1815A>C (p.Leu605Phe) c.2943A>C (p.Leu981Phe) c.3123A>C (p.Leu1041Phe) c.2790A>C (p.Leu930Phe) | |
| 7 | g.117610563A>G | CA4451366 | CFTR | c.3033A>G (p.Leu1011=) c.*2747A>G (n.*2747A>G) c.2850A>G (p.Leu950=) c.*1333A>G (n.*1333A>G) c.*2857A>G (n.*2857A>G) c.2607A>G (p.Leu869=) c.624A>G (p.Leu208=) c.683A>G c.1815A>G (p.Leu605=) c.2943A>G (p.Leu981=) c.3123A>G (p.Leu1041=) c.2790A>G (p.Leu930=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610563A>T | CA368990515 | CFTR | c.3033A>T (p.Leu1011Phe) c.*2747A>T (n.*2747A>T) c.2850A>T (p.Leu950Phe) c.*1333A>T (n.*1333A>T) c.*2857A>T (n.*2857A>T) c.2607A>T (p.Leu869Phe) c.624A>T (p.Leu208Phe) c.683A>T c.1815A>T (p.Leu605Phe) c.2943A>T (p.Leu981Phe) c.3123A>T (p.Leu1041Phe) c.2790A>T (p.Leu930Phe) | |
| 7 | g.117610563dup | CA2695208430 | CFTR | c.3033dup (p.Gln1012ThrfsTer?) c.*2747dup (n.*2747dup) c.2850dup (p.Gln951ThrfsTer?) c.*1333dup (n.*1333dup) c.*2857dup (n.*2857dup) c.2607dup (p.Gln870ThrfsTer?) c.624dup (p.Gln209ThrfsTer?) c.683dup c.1815dup (p.Gln606ThrfsTer?) c.2943dup (p.Gln982ThrfsTer?) c.3123dup (p.Gln1042ThrfsTer?) c.2790dup (p.Gln931ThrfsTer?) | |
| 7 | g.117610564C>A | CA368990523 | CFTR | c.3034C>A (p.Gln1012Lys) c.*2748C>A (n.*2748C>A) c.2851C>A (p.Gln951Lys) c.*1334C>A (n.*1334C>A) c.*2858C>A (n.*2858C>A) c.2608C>A (p.Gln870Lys) c.625C>A (p.Gln209Lys) c.684C>A c.1816C>A (p.Gln606Lys) c.2944C>A (p.Gln982Lys) c.3124C>A (p.Gln1042Lys) c.2791C>A (p.Gln931Lys) | ClinVar gnomAD v4 |
| 7 | g.117610564C>G | CA368990525 | CFTR | c.3034C>G (p.Gln1012Glu) c.*2748C>G (n.*2748C>G) c.2851C>G (p.Gln951Glu) c.*1334C>G (n.*1334C>G) c.*2858C>G (n.*2858C>G) c.2608C>G (p.Gln870Glu) c.625C>G (p.Gln209Glu) c.684C>G c.1816C>G (p.Gln606Glu) c.2944C>G (p.Gln982Glu) c.3124C>G (p.Gln1042Glu) c.2791C>G (p.Gln931Glu) | |
| 7 | g.117610564C>T | CA368990527 | CFTR | c.3034C>T (p.Gln1012Ter) c.*2748C>T (n.*2748C>T) c.2851C>T (p.Gln951Ter) c.*1334C>T (n.*1334C>T) c.*2858C>T (n.*2858C>T) c.2608C>T (p.Gln870Ter) c.625C>T (p.Gln209Ter) c.684C>T c.1816C>T (p.Gln606Ter) c.2944C>T (p.Gln982Ter) c.3124C>T (p.Gln1042Ter) c.2791C>T (p.Gln931Ter) | |
| 7 | g.117610565A= | CA1737384848 | CFTR | c.3035A= (p.Gln1012=) c.*2749A= (n.*2749A=) c.2852A= (p.Gln951=) c.*1335A= (n.*1335A=) c.*2859A= (n.*2859A=) c.2609A= (p.Gln870=) c.626A= (p.Gln209=) c.685A= c.1817A= (p.Gln606=) c.2945A= (p.Gln982=) c.3125A= (p.Gln1042=) c.2792A= (p.Gln931=) | |
| 7 | g.117610565A>C | CA368990530 | CFTR | c.3035A>C (p.Gln1012Pro) c.*2749A>C (n.*2749A>C) c.2852A>C (p.Gln951Pro) c.*1335A>C (n.*1335A>C) c.*2859A>C (n.*2859A>C) c.2609A>C (p.Gln870Pro) c.626A>C (p.Gln209Pro) c.685A>C c.1817A>C (p.Gln606Pro) c.2945A>C (p.Gln982Pro) c.3125A>C (p.Gln1042Pro) c.2792A>C (p.Gln931Pro) | gnomAD v4 |
| 7 | g.117610565A>G | CA368990532 | CFTR | c.3035A>G (p.Gln1012Arg) c.*2749A>G (n.*2749A>G) c.2852A>G (p.Gln951Arg) c.*1335A>G (n.*1335A>G) c.*2859A>G (n.*2859A>G) c.2609A>G (p.Gln870Arg) c.626A>G (p.Gln209Arg) c.685A>G c.1817A>G (p.Gln606Arg) c.2945A>G (p.Gln982Arg) c.3125A>G (p.Gln1042Arg) c.2792A>G (p.Gln931Arg) | ClinVar dbSNP |
| 7 | g.117610565A>T | CA368990534 | CFTR | c.3035A>T (p.Gln1012Leu) c.*2749A>T (n.*2749A>T) c.2852A>T (p.Gln951Leu) c.*1335A>T (n.*1335A>T) c.*2859A>T (n.*2859A>T) c.2609A>T (p.Gln870Leu) c.626A>T (p.Gln209Leu) c.685A>T c.1817A>T (p.Gln606Leu) c.2945A>T (p.Gln982Leu) c.3125A>T (p.Gln1042Leu) c.2792A>T (p.Gln931Leu) | gnomAD v4 |
| 7 | g.117610566del | CA2684588298 | CFTR | c.3036del (p.Gln1012HisfsTer11) c.*2750del (n.*2750del) c.2853del (p.Gln951HisfsTer11) c.*1336del (n.*1336del) c.*2860del (n.*2860del) c.2610del (p.Gln870HisfsTer11) c.627del (p.Gln209HisfsTer11) c.686del c.1818del (p.Gln606HisfsTer11) c.2946del (p.Gln982HisfsTer11) c.3126del (p.Gln1042HisfsTer11) c.2793del (p.Gln931HisfsTer11) | gnomAD v4 |
| 7 | g.117610566A= | CA1737384854 | CFTR | c.3036A= (p.Gln1012=) c.*2750A= (n.*2750A=) c.2853A= (p.Gln951=) c.*1336A= (n.*1336A=) c.*2860A= (n.*2860A=) c.2610A= (p.Gln870=) c.627A= (p.Gln209=) c.686A= c.1818A= (p.Gln606=) c.2946A= (p.Gln982=) c.3126A= (p.Gln1042=) c.2793A= (p.Gln931=) | |
| 7 | g.117610566A>C | CA368990537 | CFTR | c.3036A>C (p.Gln1012His) c.*2750A>C (n.*2750A>C) c.2853A>C (p.Gln951His) c.*1336A>C (n.*1336A>C) c.*2860A>C (n.*2860A>C) c.2610A>C (p.Gln870His) c.627A>C (p.Gln209His) c.686A>C c.1818A>C (p.Gln606His) c.2946A>C (p.Gln982His) c.3126A>C (p.Gln1042His) c.2793A>C (p.Gln931His) | |
| 7 | g.117610566A>G | CA4451367 | CFTR | c.3036A>G (p.Gln1012=) c.*2750A>G (n.*2750A>G) c.2853A>G (p.Gln951=) c.*1336A>G (n.*1336A>G) c.*2860A>G (n.*2860A>G) c.2610A>G (p.Gln870=) c.627A>G (p.Gln209=) c.686A>G c.1818A>G (p.Gln606=) c.2946A>G (p.Gln982=) c.3126A>G (p.Gln1042=) c.2793A>G (p.Gln931=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610566A>T | CA368990539 | CFTR | c.3036A>T (p.Gln1012His) c.*2750A>T (n.*2750A>T) c.2853A>T (p.Gln951His) c.*1336A>T (n.*1336A>T) c.*2860A>T (n.*2860A>T) c.2610A>T (p.Gln870His) c.627A>T (p.Gln209His) c.686A>T c.1818A>T (p.Gln606His) c.2946A>T (p.Gln982His) c.3126A>T (p.Gln1042His) c.2793A>T (p.Gln931His) | |
| 7 | g.117610566_117610567delinsAC | CA1737384852 | CFTR | c.3036_3037delinsAC (p.Gln1012=) c.*2750_*2751delinsAC (n.*2750_*2751delinsAC) c.2853_2854delinsAC (p.Gln951=) c.*1336_*1337delinsAC (n.*1336_*1337delinsAC) c.*2860_*2861delinsAC (n.*2860_*2861delinsAC) c.2610_2611delinsAC (p.Gln870=) c.627_628delinsAC (p.Gln209=) c.686_687delinsAC c.1818_1819delinsAC (p.Gln606=) c.2946_2947delinsAC (p.Gln982=) c.3126_3127delinsAC (p.Gln1042=) c.2793_2794delinsAC (p.Gln931=) | |
| 7 | g.117610567C>A | CA368990544 | CFTR | c.3037C>A (p.Pro1013Thr) c.*2751C>A (n.*2751C>A) c.2854C>A (p.Pro952Thr) c.*1337C>A (n.*1337C>A) c.*2861C>A (n.*2861C>A) c.2611C>A (p.Pro871Thr) c.628C>A (p.Pro210Thr) c.687C>A c.1819C>A (p.Pro607Thr) c.2947C>A (p.Pro983Thr) c.3127C>A (p.Pro1043Thr) c.2794C>A (p.Pro932Thr) | |
| 7 | g.117610567C= | CA1737384864 | CFTR | c.3037C= (p.Pro1013=) c.*2751C= (n.*2751C=) c.2854C= (p.Pro952=) c.*1337C= (n.*1337C=) c.*2861C= (n.*2861C=) c.2611C= (p.Pro871=) c.628C= (p.Pro210=) c.687C= c.1819C= (p.Pro607=) c.2947C= (p.Pro983=) c.3127C= (p.Pro1043=) c.2794C= (p.Pro932=) | |
| 7 | g.117610567C>G | CA368990547 | CFTR | c.3037C>G (p.Pro1013Ala) c.*2751C>G (n.*2751C>G) c.2854C>G (p.Pro952Ala) c.*1337C>G (n.*1337C>G) c.*2861C>G (n.*2861C>G) c.2611C>G (p.Pro871Ala) c.628C>G (p.Pro210Ala) c.687C>G c.1819C>G (p.Pro607Ala) c.2947C>G (p.Pro983Ala) c.3127C>G (p.Pro1043Ala) c.2794C>G (p.Pro932Ala) | |
| 7 | g.117610567C>T | CA164965144 | CFTR | c.3037C>T (p.Pro1013Ser) c.*2751C>T (n.*2751C>T) c.2854C>T (p.Pro952Ser) c.*1337C>T (n.*1337C>T) c.*2861C>T (n.*2861C>T) c.2611C>T (p.Pro871Ser) c.628C>T (p.Pro210Ser) c.687C>T c.1819C>T (p.Pro607Ser) c.2947C>T (p.Pro983Ser) c.3127C>T (p.Pro1043Ser) c.2794C>T (p.Pro932Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610569dup | CA327023 | CFTR | c.3039dup (p.Tyr1014LeufsTer?) c.*2753dup (n.*2753dup) c.2856dup (p.Tyr953LeufsTer?) c.*1339dup (n.*1339dup) c.*2863dup (n.*2863dup) c.2613dup (p.Tyr872LeufsTer?) c.630dup (p.Tyr211LeufsTer?) c.689dup c.1821dup (p.Tyr608LeufsTer?) c.2949dup (p.Tyr984LeufsTer?) c.3129dup (p.Tyr1044LeufsTer?) c.2796dup (p.Tyr933LeufsTer?) | ClinVar dbSNP |
| 7 | g.117610569del | CA327024 | CFTR | c.3039del (p.Tyr1014ThrfsTer9) c.*2753del (n.*2753del) c.2856del (p.Tyr953ThrfsTer9) c.*1339del (n.*1339del) c.*2863del (n.*2863del) c.2613del (p.Tyr872ThrfsTer9) c.630del (p.Tyr211ThrfsTer9) c.689del c.1821del (p.Tyr608ThrfsTer9) c.2949del (p.Tyr984ThrfsTer9) c.3129del (p.Tyr1044ThrfsTer9) c.2796del (p.Tyr933ThrfsTer9) | ClinVar dbSNP |
| 7 | g.117610567_117610568insTGTAAGATCAAAGAAAA | CA2562822052 | CFTR | c.3037_3038insTGTAAGATCAAAGAAAA (p.Pro1013LeufsTer2) c.*2751_*2752insTGTAAGATCAAAGAAAA (n.*2751_*2752insTGTAAGATCAAAGAAAA) c.2854_2855insTGTAAGATCAAAGAAAA (p.Pro952LeufsTer2) c.*1337_*1338insTGTAAGATCAAAGAAAA (n.*1337_*1338insTGTAAGATCAAAGAAAA) c.*2861_*2862insTGTAAGATCAAAGAAAA (n.*2861_*2862insTGTAAGATCAAAGAAAA) c.2611_2612insTGTAAGATCAAAGAAAA (p.Pro871LeufsTer2) c.628_629insTGTAAGATCAAAGAAAA (p.Pro210LeufsTer2) c.687_688insTGTAAGATCAAAGAAAA c.1819_1820insTGTAAGATCAAAGAAAA (p.Pro607LeufsTer2) c.2947_2948insTGTAAGATCAAAGAAAA (p.Pro983LeufsTer2) c.3127_3128insTGTAAGATCAAAGAAAA (p.Pro1043LeufsTer2) c.2794_2795insTGTAAGATCAAAGAAAA (p.Pro932LeufsTer2) | |
| 7 | g.117610568C>A | CA260231 | CFTR | c.3038C>A (p.Pro1013His) c.*2752C>A (n.*2752C>A) c.2855C>A (p.Pro952His) c.*1338C>A (n.*1338C>A) c.*2862C>A (n.*2862C>A) c.2612C>A (p.Pro871His) c.629C>A (p.Pro210His) c.688C>A c.1820C>A (p.Pro607His) c.2948C>A (p.Pro983His) c.3128C>A (p.Pro1043His) c.2795C>A (p.Pro932His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610568C= | CA1737384873 | CFTR | c.3038C= (p.Pro1013=) c.*2752C= (n.*2752C=) c.2855C= (p.Pro952=) c.*1338C= (n.*1338C=) c.*2862C= (n.*2862C=) c.2612C= (p.Pro871=) c.629C= (p.Pro210=) c.688C= c.1820C= (p.Pro607=) c.2948C= (p.Pro983=) c.3128C= (p.Pro1043=) c.2795C= (p.Pro932=) | |
| 7 | g.117610568C>G | CA4451368 | CFTR | c.3038C>G (p.Pro1013Arg) c.*2752C>G (n.*2752C>G) c.2855C>G (p.Pro952Arg) c.*1338C>G (n.*1338C>G) c.*2862C>G (n.*2862C>G) c.2612C>G (p.Pro871Arg) c.629C>G (p.Pro210Arg) c.688C>G c.1820C>G (p.Pro607Arg) c.2948C>G (p.Pro983Arg) c.3128C>G (p.Pro1043Arg) c.2795C>G (p.Pro932Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610568C>T | CA327022 | CFTR | c.3038C>T (p.Pro1013Leu) c.*2752C>T (n.*2752C>T) c.2855C>T (p.Pro952Leu) c.*1338C>T (n.*1338C>T) c.*2862C>T (n.*2862C>T) c.2612C>T (p.Pro871Leu) c.629C>T (p.Pro210Leu) c.688C>T c.1820C>T (p.Pro607Leu) c.2948C>T (p.Pro983Leu) c.3128C>T (p.Pro1043Leu) c.2795C>T (p.Pro932Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610568_117610571delinsCCTA | CA1737384876 | CFTR | c.3038_3041delinsCCTA (p.Pro1013=) c.*2752_*2755delinsCCTA (n.*2752_*2755delinsCCTA) c.2855_2858delinsCCTA (p.Pro952=) c.*1338_*1341delinsCCTA (n.*1338_*1341delinsCCTA) c.*2862_*2865delinsCCTA (n.*2862_*2865delinsCCTA) c.2612_2615delinsCCTA (p.Pro871=) c.629_632delinsCCTA (p.Pro210=) c.688_691delinsCCTA c.1820_1823delinsCCTA (p.Pro607=) c.2948_2951delinsCCTA (p.Pro983=) c.3128_3131delinsCCTA (p.Pro1043=) c.2795_2798delinsCCTA (p.Pro932=) | |
| 7 | g.117610569C>A | CA457229384 | CFTR | c.3039C>A (p.Pro1013=) c.*2753C>A (n.*2753C>A) c.2856C>A (p.Pro952=) c.*1339C>A (n.*1339C>A) c.*2863C>A (n.*2863C>A) c.2613C>A (p.Pro871=) c.630C>A (p.Pro210=) c.689C>A c.1821C>A (p.Pro607=) c.2949C>A (p.Pro983=) c.3129C>A (p.Pro1043=) c.2796C>A (p.Pro932=) | |
| 7 | g.117610569C= | CA1737384887 | CFTR | c.3039C= (p.Pro1013=) c.*2753C= (n.*2753C=) c.2856C= (p.Pro952=) c.*1339C= (n.*1339C=) c.*2863C= (n.*2863C=) c.2613C= (p.Pro871=) c.630C= (p.Pro210=) c.689C= c.1821C= (p.Pro607=) c.2949C= (p.Pro983=) c.3129C= (p.Pro1043=) c.2796C= (p.Pro932=) | |
| 7 | g.117610569C>G | CA457229385 | CFTR | c.3039C>G (p.Pro1013=) c.*2753C>G (n.*2753C>G) c.2856C>G (p.Pro952=) c.*1339C>G (n.*1339C>G) c.*2863C>G (n.*2863C>G) c.2613C>G (p.Pro871=) c.630C>G (p.Pro210=) c.689C>G c.1821C>G (p.Pro607=) c.2949C>G (p.Pro983=) c.3129C>G (p.Pro1043=) c.2796C>G (p.Pro932=) | ClinVar dbSNP |
| 7 | g.117610569C>T | CA457229386 | CFTR | c.3039C>T (p.Pro1013=) c.*2753C>T (n.*2753C>T) c.2856C>T (p.Pro952=) c.*1339C>T (n.*1339C>T) c.*2863C>T (n.*2863C>T) c.2613C>T (p.Pro871=) c.630C>T (p.Pro210=) c.689C>T c.1821C>T (p.Pro607=) c.2949C>T (p.Pro983=) c.3129C>T (p.Pro1043=) c.2796C>T (p.Pro932=) | dbSNP |
| 7 | g.117610570_117610572del | CA915945435 | CFTR | c.3040_3042del (p.Tyr1014del) c.*2754_*2756del (n.*2754_*2756del) c.2857_2859del (p.Tyr953del) c.*1340_*1342del (n.*1340_*1342del) c.*2864_*2866del (n.*2864_*2866del) c.2614_2616del (p.Tyr872del) c.631_633del (p.Tyr211del) c.690_692del c.1822_1824del (p.Tyr608del) c.2950_2952del (p.Tyr984del) c.3130_3132del (p.Tyr1044del) c.2797_2799del (p.Tyr933del) | ClinVar dbSNP |
| 7 | g.117610570T>A | CA368990558 | CFTR | c.3040T>A (p.Tyr1014Asn) c.*2754T>A (n.*2754T>A) c.2857T>A (p.Tyr953Asn) c.*1340T>A (n.*1340T>A) c.*2864T>A (n.*2864T>A) c.2614T>A (p.Tyr872Asn) c.631T>A (p.Tyr211Asn) c.690T>A c.1822T>A (p.Tyr608Asn) c.2950T>A (p.Tyr984Asn) c.3130T>A (p.Tyr1044Asn) c.2797T>A (p.Tyr933Asn) | |
| 7 | g.117610570T>C | CA164965162 | CFTR | c.3040T>C (p.Tyr1014His) c.*2754T>C (n.*2754T>C) c.2857T>C (p.Tyr953His) c.*1340T>C (n.*1340T>C) c.*2864T>C (n.*2864T>C) c.2614T>C (p.Tyr872His) c.631T>C (p.Tyr211His) c.690T>C c.1822T>C (p.Tyr608His) c.2950T>C (p.Tyr984His) c.3130T>C (p.Tyr1044His) c.2797T>C (p.Tyr933His) | dbSNP |
| 7 | g.117610570T>G | CA368990561 | CFTR | c.3040T>G (p.Tyr1014Asp) c.*2754T>G (n.*2754T>G) c.2857T>G (p.Tyr953Asp) c.*1340T>G (n.*1340T>G) c.*2864T>G (n.*2864T>G) c.2614T>G (p.Tyr872Asp) c.631T>G (p.Tyr211Asp) c.690T>G c.1822T>G (p.Tyr608Asp) c.2950T>G (p.Tyr984Asp) c.3130T>G (p.Tyr1044Asp) c.2797T>G (p.Tyr933Asp) | |
| 7 | g.117610570T= | CA1737384898 | CFTR | c.3040T= (p.Tyr1014=) c.*2754T= (n.*2754T=) c.2857T= (p.Tyr953=) c.*1340T= (n.*1340T=) c.*2864T= (n.*2864T=) c.2614T= (p.Tyr872=) c.631T= (p.Tyr211=) c.690T= c.1822T= (p.Tyr608=) c.2950T= (p.Tyr984=) c.3130T= (p.Tyr1044=) c.2797T= (p.Tyr933=) | |
| 7 | g.117610570_117610572delinsTAC | CA1737384896 | CFTR | c.3040_3042delinsTAC (p.Tyr1014=) c.*2754_*2756delinsTAC (n.*2754_*2756delinsTAC) c.2857_2859delinsTAC (p.Tyr953=) c.*1340_*1342delinsTAC (n.*1340_*1342delinsTAC) c.*2864_*2866delinsTAC (n.*2864_*2866delinsTAC) c.2614_2616delinsTAC (p.Tyr872=) c.631_633delinsTAC (p.Tyr211=) c.690_692delinsTAC c.1822_1824delinsTAC (p.Tyr608=) c.2950_2952delinsTAC (p.Tyr984=) c.3130_3132delinsTAC (p.Tyr1044=) c.2797_2799delinsTAC (p.Tyr933=) | |
| 7 | g.117610570_117610571insGTTGGTGAGTAA | CA2501726997 | CFTR | c.3040_3041insGTTGGTGAGTAA (p.Tyr1014CysfsTer3) c.*2754_*2755insGTTGGTGAGTAA (n.*2754_*2755insGTTGGTGAGTAA) c.2857_2858insGTTGGTGAGTAA (p.Tyr953CysfsTer3) c.*1340_*1341insGTTGGTGAGTAA (n.*1340_*1341insGTTGGTGAGTAA) c.*2864_*2865insGTTGGTGAGTAA (n.*2864_*2865insGTTGGTGAGTAA) c.2614_2615insGTTGGTGAGTAA (p.Tyr872CysfsTer3) c.631_632insGTTGGTGAGTAA (p.Tyr211CysfsTer3) c.690_691insGTTGGTGAGTAA c.1822_1823insGTTGGTGAGTAA (p.Tyr608CysfsTer3) c.2950_2951insGTTGGTGAGTAA (p.Tyr984CysfsTer3) c.3130_3131insGTTGGTGAGTAA (p.Tyr1044CysfsTer3) c.2797_2798insGTTGGTGAGTAA (p.Tyr933CysfsTer3) | |
| 7 | g.117610571A= | CA1737384906 | CFTR | c.3041A= (p.Tyr1014=) c.*2755A= (n.*2755A=) c.2858A= (p.Tyr953=) c.*1341A= (n.*1341A=) c.*2865A= (n.*2865A=) c.2615A= (p.Tyr872=) c.632A= (p.Tyr211=) c.691A= c.1823A= (p.Tyr608=) c.2951A= (p.Tyr984=) c.3131A= (p.Tyr1044=) c.2798A= (p.Tyr933=) | |
| 7 | g.117610571A>C | CA368990568 | CFTR | c.3041A>C (p.Tyr1014Ser) c.*2755A>C (n.*2755A>C) c.2858A>C (p.Tyr953Ser) c.*1341A>C (n.*1341A>C) c.*2865A>C (n.*2865A>C) c.2615A>C (p.Tyr872Ser) c.632A>C (p.Tyr211Ser) c.691A>C c.1823A>C (p.Tyr608Ser) c.2951A>C (p.Tyr984Ser) c.3131A>C (p.Tyr1044Ser) c.2798A>C (p.Tyr933Ser) | |
| 7 | g.117610571A>G | CA233700 | CFTR | c.3041A>G (p.Tyr1014Cys) c.*2755A>G (n.*2755A>G) c.2858A>G (p.Tyr953Cys) c.*1341A>G (n.*1341A>G) c.*2865A>G (n.*2865A>G) c.2615A>G (p.Tyr872Cys) c.632A>G (p.Tyr211Cys) c.691A>G c.1823A>G (p.Tyr608Cys) c.2951A>G (p.Tyr984Cys) c.3131A>G (p.Tyr1044Cys) c.2798A>G (p.Tyr933Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610571A>T | CA368990566 | CFTR | c.3041A>T (p.Tyr1014Phe) c.*2755A>T (n.*2755A>T) c.2858A>T (p.Tyr953Phe) c.*1341A>T (n.*1341A>T) c.*2865A>T (n.*2865A>T) c.2615A>T (p.Tyr872Phe) c.632A>T (p.Tyr211Phe) c.691A>T c.1823A>T (p.Tyr608Phe) c.2951A>T (p.Tyr984Phe) c.3131A>T (p.Tyr1044Phe) c.2798A>T (p.Tyr933Phe) | |
| 7 | g.117610572_117610573del | CA327026 | CFTR | c.3042_3043del (p.Ile1015LeufsTer?) c.*2756_*2757del (n.*2756_*2757del) c.2859_2860del (p.Ile954LeufsTer?) c.*1342_*1343del (n.*1342_*1343del) c.*2866_*2867del (n.*2866_*2867del) c.2616_2617del (p.Ile873LeufsTer?) c.633_634del (p.Ile212LeufsTer?) c.692_693del c.1824_1825del (p.Ile609LeufsTer?) c.2952_2953del (p.Ile985LeufsTer?) c.3132_3133del (p.Ile1045LeufsTer?) c.2799_2800del (p.Ile934LeufsTer?) | dbSNP |
| 7 | g.117610572C>A | CA368990573 | CFTR | c.3042C>A (p.Tyr1014Ter) c.*2756C>A (n.*2756C>A) c.2859C>A (p.Tyr953Ter) c.*1342C>A (n.*1342C>A) c.*2866C>A (n.*2866C>A) c.2616C>A (p.Tyr872Ter) c.633C>A (p.Tyr211Ter) c.692C>A c.1824C>A (p.Tyr608Ter) c.2952C>A (p.Tyr984Ter) c.3132C>A (p.Tyr1044Ter) c.2799C>A (p.Tyr933Ter) | |
| 7 | g.117610572C>G | CA368990574 | CFTR | c.3042C>G (p.Tyr1014Ter) c.*2756C>G (n.*2756C>G) c.2859C>G (p.Tyr953Ter) c.*1342C>G (n.*1342C>G) c.*2866C>G (n.*2866C>G) c.2616C>G (p.Tyr872Ter) c.633C>G (p.Tyr211Ter) c.692C>G c.1824C>G (p.Tyr608Ter) c.2952C>G (p.Tyr984Ter) c.3132C>G (p.Tyr1044Ter) c.2799C>G (p.Tyr933Ter) | |
| 7 | g.117610572C>T | CA457229387 | CFTR | c.3042C>T (p.Tyr1014=) c.*2756C>T (n.*2756C>T) c.2859C>T (p.Tyr953=) c.*1342C>T (n.*1342C>T) c.*2866C>T (n.*2866C>T) c.2616C>T (p.Tyr872=) c.633C>T (p.Tyr211=) c.692C>T c.1824C>T (p.Tyr608=) c.2952C>T (p.Tyr984=) c.3132C>T (p.Tyr1044=) c.2799C>T (p.Tyr933=) | ClinVar gnomAD v4 |
| 7 | g.117610573A>C | CA368990578 | CFTR | c.3043A>C (p.Ile1015Leu) c.*2757A>C (n.*2757A>C) c.2860A>C (p.Ile954Leu) c.*1343A>C (n.*1343A>C) c.*2867A>C (n.*2867A>C) c.2617A>C (p.Ile873Leu) c.634A>C (p.Ile212Leu) c.693A>C c.1825A>C (p.Ile609Leu) c.2953A>C (p.Ile985Leu) c.3133A>C (p.Ile1045Leu) c.2800A>C (p.Ile934Leu) | |
| 7 | g.117610573A>G | CA368990579 | CFTR | c.3043A>G (p.Ile1015Val) c.*2757A>G (n.*2757A>G) c.2860A>G (p.Ile954Val) c.*1343A>G (n.*1343A>G) c.*2867A>G (n.*2867A>G) c.2617A>G (p.Ile873Val) c.634A>G (p.Ile212Val) c.693A>G c.1825A>G (p.Ile609Val) c.2953A>G (p.Ile985Val) c.3133A>G (p.Ile1045Val) c.2800A>G (p.Ile934Val) | ClinVar |
| 7 | g.117610573A>T | CA368990581 | CFTR | c.3043A>T (p.Ile1015Phe) c.*2757A>T (n.*2757A>T) c.2860A>T (p.Ile954Phe) c.*1343A>T (n.*1343A>T) c.*2867A>T (n.*2867A>T) c.2617A>T (p.Ile873Phe) c.634A>T (p.Ile212Phe) c.693A>T c.1825A>T (p.Ile609Phe) c.2953A>T (p.Ile985Phe) c.3133A>T (p.Ile1045Phe) c.2800A>T (p.Ile934Phe) | |
| 7 | g.117610574T>A | CA368990584 | CFTR | c.3044T>A (p.Ile1015Asn) c.*2758T>A (n.*2758T>A) c.2861T>A (p.Ile954Asn) c.*1344T>A (n.*1344T>A) c.*2868T>A (n.*2868T>A) c.2618T>A (p.Ile873Asn) c.635T>A (p.Ile212Asn) c.694T>A c.1826T>A (p.Ile609Asn) c.2954T>A (p.Ile985Asn) c.3134T>A (p.Ile1045Asn) c.2801T>A (p.Ile934Asn) | |
| 7 | g.117610574T>C | CA368990586 | CFTR | c.3044T>C (p.Ile1015Thr) c.*2758T>C (n.*2758T>C) c.2861T>C (p.Ile954Thr) c.*1344T>C (n.*1344T>C) c.*2868T>C (n.*2868T>C) c.2618T>C (p.Ile873Thr) c.635T>C (p.Ile212Thr) c.694T>C c.1826T>C (p.Ile609Thr) c.2954T>C (p.Ile985Thr) c.3134T>C (p.Ile1045Thr) c.2801T>C (p.Ile934Thr) | |
| 7 | g.117610574T>G | CA368990588 | CFTR | c.3044T>G (p.Ile1015Ser) c.*2758T>G (n.*2758T>G) c.2861T>G (p.Ile954Ser) c.*1344T>G (n.*1344T>G) c.*2868T>G (n.*2868T>G) c.2618T>G (p.Ile873Ser) c.635T>G (p.Ile212Ser) c.694T>G c.1826T>G (p.Ile609Ser) c.2954T>G (p.Ile985Ser) c.3134T>G (p.Ile1045Ser) c.2801T>G (p.Ile934Ser) | |
| 7 | g.117610575C>A | CA457229389 | CFTR | c.3045C>A (p.Ile1015=) c.*2759C>A (n.*2759C>A) c.2862C>A (p.Ile954=) c.*1345C>A (n.*1345C>A) c.*2869C>A (n.*2869C>A) c.2619C>A (p.Ile873=) c.636C>A (p.Ile212=) c.695C>A c.1827C>A (p.Ile609=) c.2955C>A (p.Ile985=) c.3135C>A (p.Ile1045=) c.2802C>A (p.Ile934=) | ClinVar |
| 7 | g.117610575C>G | CA368990591 | CFTR | c.3045C>G (p.Ile1015Met) c.*2759C>G (n.*2759C>G) c.2862C>G (p.Ile954Met) c.*1345C>G (n.*1345C>G) c.*2869C>G (n.*2869C>G) c.2619C>G (p.Ile873Met) c.636C>G (p.Ile212Met) c.695C>G c.1827C>G (p.Ile609Met) c.2955C>G (p.Ile985Met) c.3135C>G (p.Ile1045Met) c.2802C>G (p.Ile934Met) | |
| 7 | g.117610575C>T | CA457229388 | CFTR | c.3045C>T (p.Ile1015=) c.*2759C>T (n.*2759C>T) c.2862C>T (p.Ile954=) c.*1345C>T (n.*1345C>T) c.*2869C>T (n.*2869C>T) c.2619C>T (p.Ile873=) c.636C>T (p.Ile212=) c.695C>T c.1827C>T (p.Ile609=) c.2955C>T (p.Ile985=) c.3135C>T (p.Ile1045=) c.2802C>T (p.Ile934=) | ClinVar gnomAD v4 COSMIC |
| 7 | g.117610576T>A | CA368990594 | CFTR | c.3046T>A (p.Phe1016Ile) c.*2760T>A (n.*2760T>A) c.2863T>A (p.Phe955Ile) c.*1346T>A (n.*1346T>A) c.*2870T>A (n.*2870T>A) c.2620T>A (p.Phe874Ile) c.637T>A (p.Phe213Ile) c.696T>A c.1828T>A (p.Phe610Ile) c.2956T>A (p.Phe986Ile) c.3136T>A (p.Phe1046Ile) c.2803T>A (p.Phe935Ile) | |
| 7 | g.117610576T>C | CA368990596 | CFTR | c.3046T>C (p.Phe1016Leu) c.*2760T>C (n.*2760T>C) c.2863T>C (p.Phe955Leu) c.*1346T>C (n.*1346T>C) c.*2870T>C (n.*2870T>C) c.2620T>C (p.Phe874Leu) c.637T>C (p.Phe213Leu) c.696T>C c.1828T>C (p.Phe610Leu) c.2956T>C (p.Phe986Leu) c.3136T>C (p.Phe1046Leu) c.2803T>C (p.Phe935Leu) | |
| 7 | g.117610576T>G | CA368990598 | CFTR | c.3046T>G (p.Phe1016Val) c.*2760T>G (n.*2760T>G) c.2863T>G (p.Phe955Val) c.*1346T>G (n.*1346T>G) c.*2870T>G (n.*2870T>G) c.2620T>G (p.Phe874Val) c.637T>G (p.Phe213Val) c.696T>G c.1828T>G (p.Phe610Val) c.2956T>G (p.Phe986Val) c.3136T>G (p.Phe1046Val) c.2803T>G (p.Phe935Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117610577T>A | CA368990606 | CFTR | c.3047T>A (p.Phe1016Tyr) c.*2761T>A (n.*2761T>A) c.2864T>A (p.Phe955Tyr) c.*1347T>A (n.*1347T>A) c.*2871T>A (n.*2871T>A) c.2621T>A (p.Phe874Tyr) c.638T>A (p.Phe213Tyr) c.697T>A c.1829T>A (p.Phe610Tyr) c.2957T>A (p.Phe986Tyr) c.3137T>A (p.Phe1046Tyr) c.2804T>A (p.Phe935Tyr) | |
| 7 | g.117610577T>C | CA327027 | CFTR | c.3047T>C (p.Phe1016Ser) c.*2761T>C (n.*2761T>C) c.2864T>C (p.Phe955Ser) c.*1347T>C (n.*1347T>C) c.*2871T>C (n.*2871T>C) c.2621T>C (p.Phe874Ser) c.638T>C (p.Phe213Ser) c.697T>C c.1829T>C (p.Phe610Ser) c.2957T>C (p.Phe986Ser) c.3137T>C (p.Phe1046Ser) c.2804T>C (p.Phe935Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610577T>G | CA368990602 | CFTR | c.3047T>G (p.Phe1016Cys) c.*2761T>G (n.*2761T>G) c.2864T>G (p.Phe955Cys) c.*1347T>G (n.*1347T>G) c.*2871T>G (n.*2871T>G) c.2621T>G (p.Phe874Cys) c.638T>G (p.Phe213Cys) c.697T>G c.1829T>G (p.Phe610Cys) c.2957T>G (p.Phe986Cys) c.3137T>G (p.Phe1046Cys) c.2804T>G (p.Phe935Cys) | |
| 7 | g.117610577T= | CA1737384917 | CFTR | c.3047T= (p.Phe1016=) c.*2761T= (n.*2761T=) c.2864T= (p.Phe955=) c.*1347T= (n.*1347T=) c.*2871T= (n.*2871T=) c.2621T= (p.Phe874=) c.638T= (p.Phe213=) c.697T= c.1829T= (p.Phe610=) c.2957T= (p.Phe986=) c.3137T= (p.Phe1046=) c.2804T= (p.Phe935=) |