| 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.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.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.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.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.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.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) |