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.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.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.117611582_117614714del | CA913189834 | CFTR | c.3141_3468+1del c.*2855_*3182+1del c.2958_3285+1del c.*1441_*1843+1del c.3141_3462+1del c.*2965_*3292+1del c.2715_3042+1del c.732_1059+1del c.791_1118+1del c.1923_2250+1del c.3051_3378+1del c.3231_3558+1del c.2898_3225+1del | ClinVar |
| 7 | g.117611595T>A | CA368991804 | CFTR | c.3154T>A (p.Phe1052Ile) c.*2868T>A (n.*2868T>A) c.2971T>A (p.Phe991Ile) c.*1454T>A (n.*1454T>A) c.*2978T>A (n.*2978T>A) c.2728T>A (p.Phe910Ile) c.745T>A (p.Phe249Ile) c.804T>A c.1936T>A (p.Phe646Ile) c.3064T>A (p.Phe1022Ile) c.3244T>A (p.Phe1082Ile) c.2911T>A (p.Phe971Ile) | |
| 7 | g.117611595T>C | CA368991806 | CFTR | c.3154T>C (p.Phe1052Leu) c.*2868T>C (n.*2868T>C) c.2971T>C (p.Phe991Leu) c.*1454T>C (n.*1454T>C) c.*2978T>C (n.*2978T>C) c.2728T>C (p.Phe910Leu) c.745T>C (p.Phe249Leu) c.804T>C c.1936T>C (p.Phe646Leu) c.3064T>C (p.Phe1022Leu) c.3244T>C (p.Phe1082Leu) c.2911T>C (p.Phe971Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611595T>G | CA327067 | CFTR | c.3154T>G (p.Phe1052Val) c.*2868T>G (n.*2868T>G) c.2971T>G (p.Phe991Val) c.*1454T>G (n.*1454T>G) c.*2978T>G (n.*2978T>G) c.2728T>G (p.Phe910Val) c.745T>G (p.Phe249Val) c.804T>G c.1936T>G (p.Phe646Val) c.3064T>G (p.Phe1022Val) c.3244T>G (p.Phe1082Val) c.2911T>G (p.Phe971Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611595T= | CA1737386693 | CFTR | c.3154T= (p.Phe1052=) c.*2868T= (n.*2868T=) c.2971T= (p.Phe991=) c.*1454T= (n.*1454T=) c.*2978T= (n.*2978T=) c.2728T= (p.Phe910=) c.745T= (p.Phe249=) c.804T= c.1936T= (p.Phe646=) c.3064T= (p.Phe1022=) c.3244T= (p.Phe1082=) c.2911T= (p.Phe971=) | |
| 7 | g.117611596T>A | CA368991814 | CFTR | c.3155T>A (p.Phe1052Tyr) c.*2869T>A (n.*2869T>A) c.2972T>A (p.Phe991Tyr) c.*1455T>A (n.*1455T>A) c.*2979T>A (n.*2979T>A) c.2729T>A (p.Phe910Tyr) c.746T>A (p.Phe249Tyr) c.805T>A c.1937T>A (p.Phe646Tyr) c.3065T>A (p.Phe1022Tyr) c.3245T>A (p.Phe1082Tyr) c.2912T>A (p.Phe971Tyr) | |
| 7 | g.117611596T>C | CA368991817 | CFTR | c.3155T>C (p.Phe1052Ser) c.*2869T>C (n.*2869T>C) c.2972T>C (p.Phe991Ser) c.*1455T>C (n.*1455T>C) c.*2979T>C (n.*2979T>C) c.2729T>C (p.Phe910Ser) c.746T>C (p.Phe249Ser) c.805T>C c.1937T>C (p.Phe646Ser) c.3065T>C (p.Phe1022Ser) c.3245T>C (p.Phe1082Ser) c.2912T>C (p.Phe971Ser) | |
| 7 | g.117611596T>G | CA368991820 | CFTR | c.3155T>G (p.Phe1052Cys) c.*2869T>G (n.*2869T>G) c.2972T>G (p.Phe991Cys) c.*1455T>G (n.*1455T>G) c.*2979T>G (n.*2979T>G) c.2729T>G (p.Phe910Cys) c.746T>G (p.Phe249Cys) c.805T>G c.1937T>G (p.Phe646Cys) c.3065T>G (p.Phe1022Cys) c.3245T>G (p.Phe1082Cys) c.2912T>G (p.Phe971Cys) | |
| 7 | g.117611597C>A | CA368991825 | CFTR | c.3156C>A (p.Phe1052Leu) c.*2870C>A (n.*2870C>A) c.2973C>A (p.Phe991Leu) c.*1456C>A (n.*1456C>A) c.*2980C>A (n.*2980C>A) c.2730C>A (p.Phe910Leu) c.747C>A (p.Phe249Leu) c.806C>A c.1938C>A (p.Phe646Leu) c.3066C>A (p.Phe1022Leu) c.3246C>A (p.Phe1082Leu) c.2913C>A (p.Phe971Leu) | |
| 7 | g.117611597C>G | CA368991827 | CFTR | c.3156C>G (p.Phe1052Leu) c.*2870C>G (n.*2870C>G) c.2973C>G (p.Phe991Leu) c.*1456C>G (n.*1456C>G) c.*2980C>G (n.*2980C>G) c.2730C>G (p.Phe910Leu) c.747C>G (p.Phe249Leu) c.806C>G c.1938C>G (p.Phe646Leu) c.3066C>G (p.Phe1022Leu) c.3246C>G (p.Phe1082Leu) c.2913C>G (p.Phe971Leu) | gnomAD v4 |
| 7 | g.117611597C>T | CA457229979 | CFTR | c.3156C>T (p.Phe1052=) c.*2870C>T (n.*2870C>T) c.2973C>T (p.Phe991=) c.*1456C>T (n.*1456C>T) c.*2980C>T (n.*2980C>T) c.2730C>T (p.Phe910=) c.747C>T (p.Phe249=) c.806C>T c.1938C>T (p.Phe646=) c.3066C>T (p.Phe1022=) c.3246C>T (p.Phe1082=) c.2913C>T (p.Phe971=) | ClinVar |
| 7 | g.117611598A= | CA1737386699 | CFTR | c.3157A= (p.Thr1053=) c.*2871A= (n.*2871A=) c.2974A= (p.Thr992=) c.*1457A= (n.*1457A=) c.*2981A= (n.*2981A=) c.2731A= (p.Thr911=) c.748A= (p.Thr250=) c.807A= c.1939A= (p.Thr647=) c.3067A= (p.Thr1023=) c.3247A= (p.Thr1083=) c.2914A= (p.Thr972=) | |
| 7 | g.117611598A>C | CA368991832 | CFTR | c.3157A>C (p.Thr1053Pro) c.*2871A>C (n.*2871A>C) c.2974A>C (p.Thr992Pro) c.*1457A>C (n.*1457A>C) c.*2981A>C (n.*2981A>C) c.2731A>C (p.Thr911Pro) c.748A>C (p.Thr250Pro) c.807A>C c.1939A>C (p.Thr647Pro) c.3067A>C (p.Thr1023Pro) c.3247A>C (p.Thr1083Pro) c.2914A>C (p.Thr972Pro) | |
| 7 | g.117611598A>G | CA368991835 | CFTR | c.3157A>G (p.Thr1053Ala) c.*2871A>G (n.*2871A>G) c.2974A>G (p.Thr992Ala) c.*1457A>G (n.*1457A>G) c.*2981A>G (n.*2981A>G) c.2731A>G (p.Thr911Ala) c.748A>G (p.Thr250Ala) c.807A>G c.1939A>G (p.Thr647Ala) c.3067A>G (p.Thr1023Ala) c.3247A>G (p.Thr1083Ala) c.2914A>G (p.Thr972Ala) | |
| 7 | g.117611598A>T | CA368991838 | CFTR | c.3157A>T (p.Thr1053Ser) c.*2871A>T (n.*2871A>T) c.2974A>T (p.Thr992Ser) c.*1457A>T (n.*1457A>T) c.*2981A>T (n.*2981A>T) c.2731A>T (p.Thr911Ser) c.748A>T (p.Thr250Ser) c.807A>T c.1939A>T (p.Thr647Ser) c.3067A>T (p.Thr1023Ser) c.3247A>T (p.Thr1083Ser) c.2914A>T (p.Thr972Ser) | ClinVar dbSNP |
| 7 | g.117611599C>A | CA368991849 | CFTR | c.3158C>A (p.Thr1053Asn) c.*2872C>A (n.*2872C>A) c.2975C>A (p.Thr992Asn) c.*1458C>A (n.*1458C>A) c.*2982C>A (n.*2982C>A) c.2732C>A (p.Thr911Asn) c.749C>A (p.Thr250Asn) c.808C>A c.1940C>A (p.Thr647Asn) c.3068C>A (p.Thr1023Asn) c.3248C>A (p.Thr1083Asn) c.2915C>A (p.Thr972Asn) | gnomAD v4 |
| 7 | g.117611599C= | CA1737386707 | CFTR | c.3158C= (p.Thr1053=) c.*2872C= (n.*2872C=) c.2975C= (p.Thr992=) c.*1458C= (n.*1458C=) c.*2982C= (n.*2982C=) c.2732C= (p.Thr911=) c.749C= (p.Thr250=) c.808C= c.1940C= (p.Thr647=) c.3068C= (p.Thr1023=) c.3248C= (p.Thr1083=) c.2915C= (p.Thr972=) | |
| 7 | g.117611599C>G | CA368991844 | CFTR | c.3158C>G (p.Thr1053Ser) c.*2872C>G (n.*2872C>G) c.2975C>G (p.Thr992Ser) c.*1458C>G (n.*1458C>G) c.*2982C>G (n.*2982C>G) c.2732C>G (p.Thr911Ser) c.749C>G (p.Thr250Ser) c.808C>G c.1940C>G (p.Thr647Ser) c.3068C>G (p.Thr1023Ser) c.3248C>G (p.Thr1083Ser) c.2915C>G (p.Thr972Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611599C>T | CA327068 | CFTR | c.3158C>T (p.Thr1053Ile) c.*2872C>T (n.*2872C>T) c.2975C>T (p.Thr992Ile) c.*1458C>T (n.*1458C>T) c.*2982C>T (n.*2982C>T) c.2732C>T (p.Thr911Ile) c.749C>T (p.Thr250Ile) c.808C>T c.1940C>T (p.Thr647Ile) c.3068C>T (p.Thr1023Ile) c.3248C>T (p.Thr1083Ile) c.2915C>T (p.Thr972Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611600T>A | CA457229980 | CFTR | c.3159T>A (p.Thr1053=) c.*2873T>A (n.*2873T>A) c.2976T>A (p.Thr992=) c.*1459T>A (n.*1459T>A) c.*2983T>A (n.*2983T>A) c.2733T>A (p.Thr911=) c.750T>A (p.Thr250=) c.809T>A c.1941T>A (p.Thr647=) c.3069T>A (p.Thr1023=) c.3249T>A (p.Thr1083=) c.2916T>A (p.Thr972=) | ClinVar dbSNP |
| 7 | g.117611600T>C | CA457229981 | CFTR | c.3159T>C (p.Thr1053=) c.*2873T>C (n.*2873T>C) c.2976T>C (p.Thr992=) c.*1459T>C (n.*1459T>C) c.*2983T>C (n.*2983T>C) c.2733T>C (p.Thr911=) c.750T>C (p.Thr250=) c.809T>C c.1941T>C (p.Thr647=) c.3069T>C (p.Thr1023=) c.3249T>C (p.Thr1083=) c.2916T>C (p.Thr972=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611600T>G | CA457229982 | CFTR | c.3159T>G (p.Thr1053=) c.*2873T>G (n.*2873T>G) c.2976T>G (p.Thr992=) c.*1459T>G (n.*1459T>G) c.*2983T>G (n.*2983T>G) c.2733T>G (p.Thr911=) c.750T>G (p.Thr250=) c.809T>G c.1941T>G (p.Thr647=) c.3069T>G (p.Thr1023=) c.3249T>G (p.Thr1083=) c.2916T>G (p.Thr972=) | COSMIC |
| 7 | g.117611600T= | CA1737386713 | CFTR | c.3159T= (p.Thr1053=) c.*2873T= (n.*2873T=) c.2976T= (p.Thr992=) c.*1459T= (n.*1459T=) c.*2983T= (n.*2983T=) c.2733T= (p.Thr911=) c.750T= (p.Thr250=) c.809T= c.1941T= (p.Thr647=) c.3069T= (p.Thr1023=) c.3249T= (p.Thr1083=) c.2916T= (p.Thr972=) | |
| 7 | g.117611601C>A | CA368991852 | CFTR | c.3160C>A (p.His1054Asn) c.*2874C>A (n.*2874C>A) c.2977C>A (p.His993Asn) c.*1460C>A (n.*1460C>A) c.*2984C>A (n.*2984C>A) c.2734C>A (p.His912Asn) c.751C>A (p.His251Asn) c.810C>A c.1942C>A (p.His648Asn) c.3070C>A (p.His1024Asn) c.3250C>A (p.His1084Asn) c.2917C>A (p.His973Asn) | |
| 7 | g.117611601C= | CA1737386722 | CFTR | c.3160C= (p.His1054=) c.*2874C= (n.*2874C=) c.2977C= (p.His993=) c.*1460C= (n.*1460C=) c.*2984C= (n.*2984C=) c.2734C= (p.His912=) c.751C= (p.His251=) c.810C= c.1942C= (p.His648=) c.3070C= (p.His1024=) c.3250C= (p.His1084=) c.2917C= (p.His973=) | |
| 7 | g.117611601C>G | CA327070 | CFTR | c.3160C>G (p.His1054Asp) c.*2874C>G (n.*2874C>G) c.2977C>G (p.His993Asp) c.*1460C>G (n.*1460C>G) c.*2984C>G (n.*2984C>G) c.2734C>G (p.His912Asp) c.751C>G (p.His251Asp) c.810C>G c.1942C>G (p.His648Asp) c.3070C>G (p.His1024Asp) c.3250C>G (p.His1084Asp) c.2917C>G (p.His973Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611601C>T | CA368991857 | CFTR | c.3160C>T (p.His1054Tyr) c.*2874C>T (n.*2874C>T) c.2977C>T (p.His993Tyr) c.*1460C>T (n.*1460C>T) c.*2984C>T (n.*2984C>T) c.2734C>T (p.His912Tyr) c.751C>T (p.His251Tyr) c.810C>T c.1942C>T (p.His648Tyr) c.3070C>T (p.His1024Tyr) c.3250C>T (p.His1084Tyr) c.2917C>T (p.His973Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611601_117611602delinsCA | CA1737386717 | CFTR | c.3160_3161delinsCA (p.His1054=) c.*2874_*2875delinsCA (n.*2874_*2875delinsCA) c.2977_2978delinsCA (p.His993=) c.*1460_*1461delinsCA (n.*1460_*1461delinsCA) c.*2984_*2985delinsCA (n.*2984_*2985delinsCA) c.2734_2735delinsCA (p.His912=) c.751_752delinsCA (p.His251=) c.810_811delinsCA c.1942_1943delinsCA (p.His648=) c.3070_3071delinsCA (p.His1024=) c.3250_3251delinsCA (p.His1084=) c.2917_2918delinsCA (p.His973=) | |
| 7 | g.117611602del | CA325607 | CFTR | c.3161del (p.His1054LeufsTer6) c.*2875del (n.*2875del) c.2978del (p.His993LeufsTer6) c.*1461del (n.*1461del) c.*2985del (n.*2985del) c.2735del (p.His912LeufsTer6) c.752del (p.His251LeufsTer6) c.811del c.1943del (p.His648LeufsTer6) c.3071del (p.His1024LeufsTer6) c.3251del (p.His1084LeufsTer6) c.2918del (p.His973LeufsTer6) | ClinVar dbSNP |
| 7 | g.117611602A= | CA1737386729 | CFTR | c.3161A= (p.His1054=) c.*2875A= (n.*2875A=) c.2978A= (p.His993=) c.*1461A= (n.*1461A=) c.*2985A= (n.*2985A=) c.2735A= (p.His912=) c.752A= (p.His251=) c.811A= c.1943A= (p.His648=) c.3071A= (p.His1024=) c.3251A= (p.His1084=) c.2918A= (p.His973=) | |
| 7 | g.117611602A>C | CA368991862 | CFTR | c.3161A>C (p.His1054Pro) c.*2875A>C (n.*2875A>C) c.2978A>C (p.His993Pro) c.*1461A>C (n.*1461A>C) c.*2985A>C (n.*2985A>C) c.2735A>C (p.His912Pro) c.752A>C (p.His251Pro) c.811A>C c.1943A>C (p.His648Pro) c.3071A>C (p.His1024Pro) c.3251A>C (p.His1084Pro) c.2918A>C (p.His973Pro) | gnomAD v4 |
| 7 | g.117611602A>G | CA368991865 | CFTR | c.3161A>G (p.His1054Arg) c.*2875A>G (n.*2875A>G) c.2978A>G (p.His993Arg) c.*1461A>G (n.*1461A>G) c.*2985A>G (n.*2985A>G) c.2735A>G (p.His912Arg) c.752A>G (p.His251Arg) c.811A>G c.1943A>G (p.His648Arg) c.3071A>G (p.His1024Arg) c.3251A>G (p.His1084Arg) c.2918A>G (p.His973Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611602A>T | CA368991868 | CFTR | c.3161A>T (p.His1054Leu) c.*2875A>T (n.*2875A>T) c.2978A>T (p.His993Leu) c.*1461A>T (n.*1461A>T) c.*2985A>T (n.*2985A>T) c.2735A>T (p.His912Leu) c.752A>T (p.His251Leu) c.811A>T c.1943A>T (p.His648Leu) c.3071A>T (p.His1024Leu) c.3251A>T (p.His1084Leu) c.2918A>T (p.His973Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611603T>A | CA4451405 | CFTR | c.3162T>A (p.His1054Gln) c.*2876T>A (n.*2876T>A) c.2979T>A (p.His993Gln) c.*1462T>A (n.*1462T>A) c.*2986T>A (n.*2986T>A) c.2736T>A (p.His912Gln) c.753T>A (p.His251Gln) c.812T>A c.1944T>A (p.His648Gln) c.3072T>A (p.His1024Gln) c.3252T>A (p.His1084Gln) c.2919T>A (p.His973Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611603T>C | CA457229983 | CFTR | c.3162T>C (p.His1054=) c.*2876T>C (n.*2876T>C) c.2979T>C (p.His993=) c.*1462T>C (n.*1462T>C) c.*2986T>C (n.*2986T>C) c.2736T>C (p.His912=) c.753T>C (p.His251=) c.812T>C c.1944T>C (p.His648=) c.3072T>C (p.His1024=) c.3252T>C (p.His1084=) c.2919T>C (p.His973=) | ClinVar dbSNP |
| 7 | g.117611603T>G | CA368991875 | CFTR | c.3162T>G (p.His1054Gln) c.*2876T>G (n.*2876T>G) c.2979T>G (p.His993Gln) c.*1462T>G (n.*1462T>G) c.*2986T>G (n.*2986T>G) c.2736T>G (p.His912Gln) c.753T>G (p.His251Gln) c.812T>G c.1944T>G (p.His648Gln) c.3072T>G (p.His1024Gln) c.3252T>G (p.His1084Gln) c.2919T>G (p.His973Gln) | |
| 7 | g.117611603T= | CA1737386734 | CFTR | c.3162T= (p.His1054=) c.*2876T= (n.*2876T=) c.2979T= (p.His993=) c.*1462T= (n.*1462T=) c.*2986T= (n.*2986T=) c.2736T= (p.His912=) c.753T= (p.His251=) c.812T= c.1944T= (p.His648=) c.3072T= (p.His1024=) c.3252T= (p.His1084=) c.2919T= (p.His973=) | |
| 7 | g.117611604C>A | CA368991880 | CFTR | c.3163C>A (p.Leu1055Ile) c.*2877C>A (n.*2877C>A) c.2980C>A (p.Leu994Ile) c.*1463C>A (n.*1463C>A) c.*2987C>A (n.*2987C>A) c.2737C>A (p.Leu913Ile) c.754C>A (p.Leu252Ile) c.813C>A c.1945C>A (p.Leu649Ile) c.3073C>A (p.Leu1025Ile) c.3253C>A (p.Leu1085Ile) c.2920C>A (p.Leu974Ile) | |
| 7 | g.117611604C>G | CA368991883 | CFTR | c.3163C>G (p.Leu1055Val) c.*2877C>G (n.*2877C>G) c.2980C>G (p.Leu994Val) c.*1463C>G (n.*1463C>G) c.*2987C>G (n.*2987C>G) c.2737C>G (p.Leu913Val) c.754C>G (p.Leu252Val) c.813C>G c.1945C>G (p.Leu649Val) c.3073C>G (p.Leu1025Val) c.3253C>G (p.Leu1085Val) c.2920C>G (p.Leu974Val) | |
| 7 | g.117611604C>T | CA368991886 | CFTR | c.3163C>T (p.Leu1055Phe) c.*2877C>T (n.*2877C>T) c.2980C>T (p.Leu994Phe) c.*1463C>T (n.*1463C>T) c.*2987C>T (n.*2987C>T) c.2737C>T (p.Leu913Phe) c.754C>T (p.Leu252Phe) c.813C>T c.1945C>T (p.Leu649Phe) c.3073C>T (p.Leu1025Phe) c.3253C>T (p.Leu1085Phe) c.2920C>T (p.Leu974Phe) |