| 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.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=) | |
| 7 | g.117610578T>A | CA368990608 | CFTR | c.3048T>A (p.Phe1016Leu) c.*2762T>A (n.*2762T>A) c.2865T>A (p.Phe955Leu) c.*1348T>A (n.*1348T>A) c.*2872T>A (n.*2872T>A) c.2622T>A (p.Phe874Leu) c.639T>A (p.Phe213Leu) c.698T>A c.1830T>A (p.Phe610Leu) c.2958T>A (p.Phe986Leu) c.3138T>A (p.Phe1046Leu) c.2805T>A (p.Phe935Leu) | |
| 7 | g.117610578T>C | CA457229390 | CFTR | c.3048T>C (p.Phe1016=) c.*2762T>C (n.*2762T>C) c.2865T>C (p.Phe955=) c.*1348T>C (n.*1348T>C) c.*2872T>C (n.*2872T>C) c.2622T>C (p.Phe874=) c.639T>C (p.Phe213=) c.698T>C c.1830T>C (p.Phe610=) c.2958T>C (p.Phe986=) c.3138T>C (p.Phe1046=) c.2805T>C (p.Phe935=) | |
| 7 | g.117610578T>G | CA368990611 | CFTR | c.3048T>G (p.Phe1016Leu) c.*2762T>G (n.*2762T>G) c.2865T>G (p.Phe955Leu) c.*1348T>G (n.*1348T>G) c.*2872T>G (n.*2872T>G) c.2622T>G (p.Phe874Leu) c.639T>G (p.Phe213Leu) c.698T>G c.1830T>G (p.Phe610Leu) c.2958T>G (p.Phe986Leu) c.3138T>G (p.Phe1046Leu) c.2805T>G (p.Phe935Leu) | |
| 7 | g.117610579G>A | CA368990613 | CFTR | c.3049G>A (p.Val1017Ile) c.*2763G>A (n.*2763G>A) c.2866G>A (p.Val956Ile) c.*1349G>A (n.*1349G>A) c.*2873G>A (n.*2873G>A) c.2623G>A (p.Val875Ile) c.640G>A (p.Val214Ile) c.699G>A c.1831G>A (p.Val611Ile) c.2959G>A (p.Val987Ile) c.3139G>A (p.Val1047Ile) c.2806G>A (p.Val936Ile) | dbSNP |
| 7 | g.117610579G>C | CA368990615 | CFTR | c.3049G>C (p.Val1017Leu) c.*2763G>C (n.*2763G>C) c.2866G>C (p.Val956Leu) c.*1349G>C (n.*1349G>C) c.*2873G>C (n.*2873G>C) c.2623G>C (p.Val875Leu) c.640G>C (p.Val214Leu) c.699G>C c.1831G>C (p.Val611Leu) c.2959G>C (p.Val987Leu) c.3139G>C (p.Val1047Leu) c.2806G>C (p.Val936Leu) | |
| 7 | g.117610579G= | CA1737384921 | CFTR | c.3049G= (p.Val1017=) c.*2763G= (n.*2763G=) c.2866G= (p.Val956=) c.*1349G= (n.*1349G=) c.*2873G= (n.*2873G=) c.2623G= (p.Val875=) c.640G= (p.Val214=) c.699G= c.1831G= (p.Val611=) c.2959G= (p.Val987=) c.3139G= (p.Val1047=) c.2806G= (p.Val936=) | |
| 7 | g.117610579G>T | CA368990617 | CFTR | c.3049G>T (p.Val1017Phe) c.*2763G>T (n.*2763G>T) c.2866G>T (p.Val956Phe) c.*1349G>T (n.*1349G>T) c.*2873G>T (n.*2873G>T) c.2623G>T (p.Val875Phe) c.640G>T (p.Val214Phe) c.699G>T c.1831G>T (p.Val611Phe) c.2959G>T (p.Val987Phe) c.3139G>T (p.Val1047Phe) c.2806G>T (p.Val936Phe) | gnomAD v4 |
| 7 | g.117610580T>A | CA368990621 | CFTR | c.3050T>A (p.Val1017Asp) c.*2764T>A (n.*2764T>A) c.2867T>A (p.Val956Asp) c.*1350T>A (n.*1350T>A) c.*2874T>A (n.*2874T>A) c.2624T>A (p.Val875Asp) c.641T>A (p.Val214Asp) c.700T>A c.1832T>A (p.Val611Asp) c.2960T>A (p.Val987Asp) c.3140T>A (p.Val1047Asp) c.2807T>A (p.Val936Asp) | |
| 7 | g.117610580T>C | CA368990623 | CFTR | c.3050T>C (p.Val1017Ala) c.*2764T>C (n.*2764T>C) c.2867T>C (p.Val956Ala) c.*1350T>C (n.*1350T>C) c.*2874T>C (n.*2874T>C) c.2624T>C (p.Val875Ala) c.641T>C (p.Val214Ala) c.700T>C c.1832T>C (p.Val611Ala) c.2960T>C (p.Val987Ala) c.3140T>C (p.Val1047Ala) c.2807T>C (p.Val936Ala) | |
| 7 | g.117610580T>G | CA368990626 | CFTR | c.3050T>G (p.Val1017Gly) c.*2764T>G (n.*2764T>G) c.2867T>G (p.Val956Gly) c.*1350T>G (n.*1350T>G) c.*2874T>G (n.*2874T>G) c.2624T>G (p.Val875Gly) c.641T>G (p.Val214Gly) c.700T>G c.1832T>G (p.Val611Gly) c.2960T>G (p.Val987Gly) c.3140T>G (p.Val1047Gly) c.2807T>G (p.Val936Gly) | |
| 7 | g.117610581T>A | CA457229391 | CFTR | c.3051T>A (p.Val1017=) c.*2765T>A (n.*2765T>A) c.2868T>A (p.Val956=) c.*1351T>A (n.*1351T>A) c.*2875T>A (n.*2875T>A) c.2625T>A (p.Val875=) c.642T>A (p.Val214=) c.701T>A c.1833T>A (p.Val611=) c.2961T>A (p.Val987=) c.3141T>A (p.Val1047=) c.2808T>A (p.Val936=) | |
| 7 | g.117610581T>C | CA457229392 | CFTR | c.3051T>C (p.Val1017=) c.*2765T>C (n.*2765T>C) c.2868T>C (p.Val956=) c.*1351T>C (n.*1351T>C) c.*2875T>C (n.*2875T>C) c.2625T>C (p.Val875=) c.642T>C (p.Val214=) c.701T>C c.1833T>C (p.Val611=) c.2961T>C (p.Val987=) c.3141T>C (p.Val1047=) c.2808T>C (p.Val936=) | |
| 7 | g.117610581T>G | CA457229393 | CFTR | c.3051T>G (p.Val1017=) c.*2765T>G (n.*2765T>G) c.2868T>G (p.Val956=) c.*1351T>G (n.*1351T>G) c.*2875T>G (n.*2875T>G) c.2625T>G (p.Val875=) c.642T>G (p.Val214=) c.701T>G c.1833T>G (p.Val611=) c.2961T>G (p.Val987=) c.3141T>G (p.Val1047=) c.2808T>G (p.Val936=) | |
| 7 | g.117610582G>A | CA4451369 | CFTR | c.3052G>A (p.Ala1018Thr) c.*2766G>A (n.*2766G>A) c.2869G>A (p.Ala957Thr) c.*1352G>A (n.*1352G>A) c.*2876G>A (n.*2876G>A) c.2626G>A (p.Ala876Thr) c.643G>A (p.Ala215Thr) c.702G>A c.1834G>A (p.Ala612Thr) c.2962G>A (p.Ala988Thr) c.3142G>A (p.Ala1048Thr) c.2809G>A (p.Ala937Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610582G>C | CA368990630 | CFTR | c.3052G>C (p.Ala1018Pro) c.*2766G>C (n.*2766G>C) c.2869G>C (p.Ala957Pro) c.*1352G>C (n.*1352G>C) c.*2876G>C (n.*2876G>C) c.2626G>C (p.Ala876Pro) c.643G>C (p.Ala215Pro) c.702G>C c.1834G>C (p.Ala612Pro) c.2962G>C (p.Ala988Pro) c.3142G>C (p.Ala1048Pro) c.2809G>C (p.Ala937Pro) | |
| 7 | g.117610582G= | CA1737384924 | CFTR | c.3052G= (p.Ala1018=) c.*2766G= (n.*2766G=) c.2869G= (p.Ala957=) c.*1352G= (n.*1352G=) c.*2876G= (n.*2876G=) c.2626G= (p.Ala876=) c.643G= (p.Ala215=) c.702G= c.1834G= (p.Ala612=) c.2962G= (p.Ala988=) c.3142G= (p.Ala1048=) c.2809G= (p.Ala937=) | |
| 7 | g.117610582G>T | CA368990632 | CFTR | c.3052G>T (p.Ala1018Ser) c.*2766G>T (n.*2766G>T) c.2869G>T (p.Ala957Ser) c.*1352G>T (n.*1352G>T) c.*2876G>T (n.*2876G>T) c.2626G>T (p.Ala876Ser) c.643G>T (p.Ala215Ser) c.702G>T c.1834G>T (p.Ala612Ser) c.2962G>T (p.Ala988Ser) c.3142G>T (p.Ala1048Ser) c.2809G>T (p.Ala937Ser) | |
| 7 | g.117610583C>A | CA368990634 | CFTR | c.3053C>A (p.Ala1018Glu) c.*2767C>A (n.*2767C>A) c.2870C>A (p.Ala957Glu) c.*1353C>A (n.*1353C>A) c.*2877C>A (n.*2877C>A) c.2627C>A (p.Ala876Glu) c.644C>A (p.Ala215Glu) c.703C>A c.1835C>A (p.Ala612Glu) c.2963C>A (p.Ala988Glu) c.3143C>A (p.Ala1048Glu) c.2810C>A (p.Ala937Glu) | |
| 7 | g.117610583C>G | CA368990636 | CFTR | c.3053C>G (p.Ala1018Gly) c.*2767C>G (n.*2767C>G) c.2870C>G (p.Ala957Gly) c.*1353C>G (n.*1353C>G) c.*2877C>G (n.*2877C>G) c.2627C>G (p.Ala876Gly) c.644C>G (p.Ala215Gly) c.703C>G c.1835C>G (p.Ala612Gly) c.2963C>G (p.Ala988Gly) c.3143C>G (p.Ala1048Gly) c.2810C>G (p.Ala937Gly) | |
| 7 | g.117610583C>T | CA368990638 | CFTR | c.3053C>T (p.Ala1018Val) c.*2767C>T (n.*2767C>T) c.2870C>T (p.Ala957Val) c.*1353C>T (n.*1353C>T) c.*2877C>T (n.*2877C>T) c.2627C>T (p.Ala876Val) c.644C>T (p.Ala215Val) c.703C>T c.1835C>T (p.Ala612Val) c.2963C>T (p.Ala988Val) c.3143C>T (p.Ala1048Val) c.2810C>T (p.Ala937Val) | |
| 7 | g.117610584A>C | CA457229395 | CFTR | c.3054A>C (p.Ala1018=) c.*2768A>C (n.*2768A>C) c.2871A>C (p.Ala957=) c.*1354A>C (n.*1354A>C) c.*2878A>C (n.*2878A>C) c.2628A>C (p.Ala876=) c.645A>C (p.Ala215=) c.704A>C c.1836A>C (p.Ala612=) c.2964A>C (p.Ala988=) c.3144A>C (p.Ala1048=) c.2811A>C (p.Ala937=) | |
| 7 | g.117610584A>G | CA457229396 | CFTR | c.3054A>G (p.Ala1018=) c.*2768A>G (n.*2768A>G) c.2871A>G (p.Ala957=) c.*1354A>G (n.*1354A>G) c.*2878A>G (n.*2878A>G) c.2628A>G (p.Ala876=) c.645A>G (p.Ala215=) c.704A>G c.1836A>G (p.Ala612=) c.2964A>G (p.Ala988=) c.3144A>G (p.Ala1048=) c.2811A>G (p.Ala937=) | |
| 7 | g.117610584A>T | CA457229397 | CFTR | c.3054A>T (p.Ala1018=) c.*2768A>T (n.*2768A>T) c.2871A>T (p.Ala957=) c.*1354A>T (n.*1354A>T) c.*2878A>T (n.*2878A>T) c.2628A>T (p.Ala876=) c.645A>T (p.Ala215=) c.704A>T c.1836A>T (p.Ala612=) c.2964A>T (p.Ala988=) c.3144A>T (p.Ala1048=) c.2811A>T (p.Ala937=) | |
| 7 | g.117610585A= | CA1737384926 | CFTR | c.3055A= (p.Thr1019=) c.*2769A= (n.*2769A=) c.2872A= (p.Thr958=) c.*1355A= (n.*1355A=) c.*2879A= (n.*2879A=) c.2629A= (p.Thr877=) c.646A= (p.Thr216=) c.705A= c.1837A= (p.Thr613=) c.2965A= (p.Thr989=) c.3145A= (p.Thr1049=) c.2812A= (p.Thr938=) | |
| 7 | g.117610585A>C | CA368990643 | CFTR | c.3055A>C (p.Thr1019Pro) c.*2769A>C (n.*2769A>C) c.2872A>C (p.Thr958Pro) c.*1355A>C (n.*1355A>C) c.*2879A>C (n.*2879A>C) c.2629A>C (p.Thr877Pro) c.646A>C (p.Thr216Pro) c.705A>C c.1837A>C (p.Thr613Pro) c.2965A>C (p.Thr989Pro) c.3145A>C (p.Thr1049Pro) c.2812A>C (p.Thr938Pro) | |
| 7 | g.117610585A>G | CA164965189 | CFTR | c.3055A>G (p.Thr1019Ala) c.*2769A>G (n.*2769A>G) c.2872A>G (p.Thr958Ala) c.*1355A>G (n.*1355A>G) c.*2879A>G (n.*2879A>G) c.2629A>G (p.Thr877Ala) c.646A>G (p.Thr216Ala) c.705A>G c.1837A>G (p.Thr613Ala) c.2965A>G (p.Thr989Ala) c.3145A>G (p.Thr1049Ala) c.2812A>G (p.Thr938Ala) | dbSNP |
| 7 | g.117610585A>T | CA368990641 | CFTR | c.3055A>T (p.Thr1019Ser) c.*2769A>T (n.*2769A>T) c.2872A>T (p.Thr958Ser) c.*1355A>T (n.*1355A>T) c.*2879A>T (n.*2879A>T) c.2629A>T (p.Thr877Ser) c.646A>T (p.Thr216Ser) c.705A>T c.1837A>T (p.Thr613Ser) c.2965A>T (p.Thr989Ser) c.3145A>T (p.Thr1049Ser) c.2812A>T (p.Thr938Ser) | |
| 7 | g.117610586C>A | CA368990645 | CFTR | c.3056C>A (p.Thr1019Lys) c.*2770C>A (n.*2770C>A) c.2873C>A (p.Thr958Lys) c.*1356C>A (n.*1356C>A) c.*2880C>A (n.*2880C>A) c.2630C>A (p.Thr877Lys) c.647C>A (p.Thr216Lys) c.706C>A c.1838C>A (p.Thr613Lys) c.2966C>A (p.Thr989Lys) c.3146C>A (p.Thr1049Lys) c.2813C>A (p.Thr938Lys) | |
| 7 | g.117610586C= | CA1737384932 | CFTR | c.3056C= (p.Thr1019=) c.*2770C= (n.*2770C=) c.2873C= (p.Thr958=) c.*1356C= (n.*1356C=) c.*2880C= (n.*2880C=) c.2630C= (p.Thr877=) c.647C= (p.Thr216=) c.706C= c.1838C= (p.Thr613=) c.2966C= (p.Thr989=) c.3146C= (p.Thr1049=) c.2813C= (p.Thr938=) | |
| 7 | g.117610586C>G | CA368990647 | CFTR | c.3056C>G (p.Thr1019Arg) c.*2770C>G (n.*2770C>G) c.2873C>G (p.Thr958Arg) c.*1356C>G (n.*1356C>G) c.*2880C>G (n.*2880C>G) c.2630C>G (p.Thr877Arg) c.647C>G (p.Thr216Arg) c.706C>G c.1838C>G (p.Thr613Arg) c.2966C>G (p.Thr989Arg) c.3146C>G (p.Thr1049Arg) c.2813C>G (p.Thr938Arg) | |
| 7 | g.117610586C>T | CA164965222 | CFTR | c.3056C>T (p.Thr1019Ile) c.*2770C>T (n.*2770C>T) c.2873C>T (p.Thr958Ile) c.*1356C>T (n.*1356C>T) c.*2880C>T (n.*2880C>T) c.2630C>T (p.Thr877Ile) c.647C>T (p.Thr216Ile) c.706C>T c.1838C>T (p.Thr613Ile) c.2966C>T (p.Thr989Ile) c.3146C>T (p.Thr1049Ile) c.2813C>T (p.Thr938Ile) | dbSNP |
| 7 | g.117610587A>C | CA457229400 | CFTR | c.3057A>C (p.Thr1019=) c.*2771A>C (n.*2771A>C) c.2874A>C (p.Thr958=) c.*1357A>C (n.*1357A>C) c.*2881A>C (n.*2881A>C) c.2631A>C (p.Thr877=) c.648A>C (p.Thr216=) c.707A>C c.1839A>C (p.Thr613=) c.2967A>C (p.Thr989=) c.3147A>C (p.Thr1049=) c.2814A>C (p.Thr938=) | |
| 7 | g.117610587A>G | CA457229402 | CFTR | c.3057A>G (p.Thr1019=) c.*2771A>G (n.*2771A>G) c.2874A>G (p.Thr958=) c.*1357A>G (n.*1357A>G) c.*2881A>G (n.*2881A>G) c.2631A>G (p.Thr877=) c.648A>G (p.Thr216=) c.707A>G c.1839A>G (p.Thr613=) c.2967A>G (p.Thr989=) c.3147A>G (p.Thr1049=) c.2814A>G (p.Thr938=) |