| 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.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.117610654C>A | CA368990833 | CFTR | c.3124C>A (p.Gln1042Lys) c.*2838C>A (n.*2838C>A) c.2941C>A (p.Gln981Lys) c.*1424C>A (n.*1424C>A) c.*2948C>A (n.*2948C>A) c.2698C>A (p.Gln900Lys) c.715C>A (p.Gln239Lys) c.774C>A c.1906C>A (p.Gln636Lys) c.3034C>A (p.Gln1012Lys) c.3214C>A (p.Gln1072Lys) c.2881C>A (p.Gln961Lys) | |
| 7 | g.117610654C= | CA1737385201 | CFTR | c.3124C= (p.Gln1042=) c.*2838C= (n.*2838C=) c.2941C= (p.Gln981=) c.*1424C= (n.*1424C=) c.*2948C= (n.*2948C=) c.2698C= (p.Gln900=) c.715C= (p.Gln239=) c.774C= c.1906C= (p.Gln636=) c.3034C= (p.Gln1012=) c.3214C= (p.Gln1072=) c.2881C= (p.Gln961=) | |
| 7 | g.117610654C>G | CA368990834 | CFTR | c.3124C>G (p.Gln1042Glu) c.*2838C>G (n.*2838C>G) c.2941C>G (p.Gln981Glu) c.*1424C>G (n.*1424C>G) c.*2948C>G (n.*2948C>G) c.2698C>G (p.Gln900Glu) c.715C>G (p.Gln239Glu) c.774C>G c.1906C>G (p.Gln636Glu) c.3034C>G (p.Gln1012Glu) c.3214C>G (p.Gln1072Glu) c.2881C>G (p.Gln961Glu) | |
| 7 | g.117610654C>T | CA327049 | CFTR | c.3124C>T (p.Gln1042Ter) c.*2838C>T (n.*2838C>T) c.2941C>T (p.Gln981Ter) c.*1424C>T (n.*1424C>T) c.*2948C>T (n.*2948C>T) c.2698C>T (p.Gln900Ter) c.715C>T (p.Gln239Ter) c.774C>T c.1906C>T (p.Gln636Ter) c.3034C>T (p.Gln1012Ter) c.3214C>T (p.Gln1072Ter) c.2881C>T (p.Gln961Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610655A= | CA1737385210 | CFTR | c.3125A= (p.Gln1042=) c.*2839A= (n.*2839A=) c.2942A= (p.Gln981=) c.*1425A= (n.*1425A=) c.*2949A= (n.*2949A=) c.2699A= (p.Gln900=) c.716A= (p.Gln239=) c.775A= c.1907A= (p.Gln636=) c.3035A= (p.Gln1012=) c.3215A= (p.Gln1072=) c.2882A= (p.Gln961=) | |
| 7 | g.117610655A>C | CA368990835 | CFTR | c.3125A>C (p.Gln1042Pro) c.*2839A>C (n.*2839A>C) c.2942A>C (p.Gln981Pro) c.*1425A>C (n.*1425A>C) c.*2949A>C (n.*2949A>C) c.2699A>C (p.Gln900Pro) c.716A>C (p.Gln239Pro) c.775A>C c.1907A>C (p.Gln636Pro) c.3035A>C (p.Gln1012Pro) c.3215A>C (p.Gln1072Pro) c.2882A>C (p.Gln961Pro) | gnomAD v4 |
| 7 | g.117610655A>G | CA368990836 | CFTR | c.3125A>G (p.Gln1042Arg) c.*2839A>G (n.*2839A>G) c.2942A>G (p.Gln981Arg) c.*1425A>G (n.*1425A>G) c.*2949A>G (n.*2949A>G) c.2699A>G (p.Gln900Arg) c.716A>G (p.Gln239Arg) c.775A>G c.1907A>G (p.Gln636Arg) c.3035A>G (p.Gln1012Arg) c.3215A>G (p.Gln1072Arg) c.2882A>G (p.Gln961Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117610655A>T | CA368990837 | CFTR | c.3125A>T (p.Gln1042Leu) c.*2839A>T (n.*2839A>T) c.2942A>T (p.Gln981Leu) c.*1425A>T (n.*1425A>T) c.*2949A>T (n.*2949A>T) c.2699A>T (p.Gln900Leu) c.716A>T (p.Gln239Leu) c.775A>T c.1907A>T (p.Gln636Leu) c.3035A>T (p.Gln1012Leu) c.3215A>T (p.Gln1072Leu) c.2882A>T (p.Gln961Leu) | |
| 7 | g.117610656A>C | CA368990838 | CFTR | c.3126A>C (p.Gln1042His) c.*2840A>C (n.*2840A>C) c.2943A>C (p.Gln981His) c.*1426A>C (n.*1426A>C) c.*2950A>C (n.*2950A>C) c.2700A>C (p.Gln900His) c.717A>C (p.Gln239His) c.776A>C c.1908A>C (p.Gln636His) c.3036A>C (p.Gln1012His) c.3216A>C (p.Gln1072His) c.2883A>C (p.Gln961His) | |
| 7 | g.117610656A>G | CA457229554 | CFTR | c.3126A>G (p.Gln1042=) c.*2840A>G (n.*2840A>G) c.2943A>G (p.Gln981=) c.*1426A>G (n.*1426A>G) c.*2950A>G (n.*2950A>G) c.2700A>G (p.Gln900=) c.717A>G (p.Gln239=) c.776A>G c.1908A>G (p.Gln636=) c.3036A>G (p.Gln1012=) c.3216A>G (p.Gln1072=) c.2883A>G (p.Gln961=) | |
| 7 | g.117610656A>T | CA368990839 | CFTR | c.3126A>T (p.Gln1042His) c.*2840A>T (n.*2840A>T) c.2943A>T (p.Gln981His) c.*1426A>T (n.*1426A>T) c.*2950A>T (n.*2950A>T) c.2700A>T (p.Gln900His) c.717A>T (p.Gln239His) c.776A>T c.1908A>T (p.Gln636His) c.3036A>T (p.Gln1012His) c.3216A>T (p.Gln1072His) c.2883A>T (p.Gln961His) | |
| 7 | g.117610657C>A | CA368990840 | CFTR | c.3127C>A (p.Leu1043Met) c.*2841C>A (n.*2841C>A) c.2944C>A (p.Leu982Met) c.*1427C>A (n.*1427C>A) c.*2951C>A (n.*2951C>A) c.2701C>A (p.Leu901Met) c.718C>A (p.Leu240Met) c.777C>A c.1909C>A (p.Leu637Met) c.3037C>A (p.Leu1013Met) c.3217C>A (p.Leu1073Met) c.2884C>A (p.Leu962Met) | |
| 7 | g.117610657C>G | CA368990841 | CFTR | c.3127C>G (p.Leu1043Val) c.*2841C>G (n.*2841C>G) c.2944C>G (p.Leu982Val) c.*1427C>G (n.*1427C>G) c.*2951C>G (n.*2951C>G) c.2701C>G (p.Leu901Val) c.718C>G (p.Leu240Val) c.777C>G c.1909C>G (p.Leu637Val) c.3037C>G (p.Leu1013Val) c.3217C>G (p.Leu1073Val) c.2884C>G (p.Leu962Val) | |
| 7 | g.117610657C>T | CA457229558 | CFTR | c.3127C>T (p.Leu1043=) c.*2841C>T (n.*2841C>T) c.2944C>T (p.Leu982=) c.*1427C>T (n.*1427C>T) c.*2951C>T (n.*2951C>T) c.2701C>T (p.Leu901=) c.718C>T (p.Leu240=) c.777C>T c.1909C>T (p.Leu637=) c.3037C>T (p.Leu1013=) c.3217C>T (p.Leu1073=) c.2884C>T (p.Leu962=) | |
| 7 | g.117610658T>A | CA164965384 | CFTR | c.3128T>A (p.Leu1043Gln) c.*2842T>A (n.*2842T>A) c.2945T>A (p.Leu982Gln) c.*1428T>A (n.*1428T>A) c.*2952T>A (n.*2952T>A) c.2702T>A (p.Leu901Gln) c.719T>A (p.Leu240Gln) c.778T>A c.1910T>A (p.Leu637Gln) c.3038T>A (p.Leu1013Gln) c.3218T>A (p.Leu1073Gln) c.2885T>A (p.Leu962Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117610658T>C | CA368990842 | CFTR | c.3128T>C (p.Leu1043Pro) c.*2842T>C (n.*2842T>C) c.2945T>C (p.Leu982Pro) c.*1428T>C (n.*1428T>C) c.*2952T>C (n.*2952T>C) c.2702T>C (p.Leu901Pro) c.719T>C (p.Leu240Pro) c.778T>C c.1910T>C (p.Leu637Pro) c.3038T>C (p.Leu1013Pro) c.3218T>C (p.Leu1073Pro) c.2885T>C (p.Leu962Pro) | |
| 7 | g.117610658T>G | CA368990843 | CFTR | c.3128T>G (p.Leu1043Arg) c.*2842T>G (n.*2842T>G) c.2945T>G (p.Leu982Arg) c.*1428T>G (n.*1428T>G) c.*2952T>G (n.*2952T>G) c.2702T>G (p.Leu901Arg) c.719T>G (p.Leu240Arg) c.778T>G c.1910T>G (p.Leu637Arg) c.3038T>G (p.Leu1013Arg) c.3218T>G (p.Leu1073Arg) c.2885T>G (p.Leu962Arg) | |
| 7 | g.117610658T= | CA1737385226 | CFTR | c.3128T= (p.Leu1043=) c.*2842T= (n.*2842T=) c.2945T= (p.Leu982=) c.*1428T= (n.*1428T=) c.*2952T= (n.*2952T=) c.2702T= (p.Leu901=) c.719T= (p.Leu240=) c.778T= c.1910T= (p.Leu637=) c.3038T= (p.Leu1013=) c.3218T= (p.Leu1073=) c.2885T= (p.Leu962=) | |
| 7 | g.117610659G>A | CA457229565 | CFTR | c.3129G>A (p.Leu1043=) c.*2843G>A (n.*2843G>A) c.2946G>A (p.Leu982=) c.*1429G>A (n.*1429G>A) c.*2953G>A (n.*2953G>A) c.2703G>A (p.Leu901=) c.720G>A (p.Leu240=) c.779G>A c.1911G>A (p.Leu637=) c.3039G>A (p.Leu1013=) c.3219G>A (p.Leu1073=) c.2886G>A (p.Leu962=) | ClinVar |
| 7 | g.117610659G>C | CA457229566 | CFTR | c.3129G>C (p.Leu1043=) c.*2843G>C (n.*2843G>C) c.2946G>C (p.Leu982=) c.*1429G>C (n.*1429G>C) c.*2953G>C (n.*2953G>C) c.2703G>C (p.Leu901=) c.720G>C (p.Leu240=) c.779G>C c.1911G>C (p.Leu637=) c.3039G>C (p.Leu1013=) c.3219G>C (p.Leu1073=) c.2886G>C (p.Leu962=) | |
| 7 | g.117610659G>T | CA457229569 | CFTR | c.3129G>T (p.Leu1043=) c.*2843G>T (n.*2843G>T) c.2946G>T (p.Leu982=) c.*1429G>T (n.*1429G>T) c.*2953G>T (n.*2953G>T) c.2703G>T (p.Leu901=) c.720G>T (p.Leu240=) c.779G>T c.1911G>T (p.Leu637=) c.3039G>T (p.Leu1013=) c.3219G>T (p.Leu1073=) c.2886G>T (p.Leu962=) | |
| 7 | g.117610660G>A | CA368990844 | CFTR | c.3130G>A (p.Glu1044Lys) c.*2844G>A (n.*2844G>A) c.2947G>A (p.Glu983Lys) c.*1430G>A (n.*1430G>A) c.*2954G>A (n.*2954G>A) c.2704G>A (p.Glu902Lys) c.721G>A (p.Glu241Lys) c.780G>A c.1912G>A (p.Glu638Lys) c.3040G>A (p.Glu1014Lys) c.3220G>A (p.Glu1074Lys) c.2887G>A (p.Glu963Lys) | |
| 7 | g.117610660G>C | CA368990846 | CFTR | c.3130G>C (p.Glu1044Gln) c.*2844G>C (n.*2844G>C) c.2947G>C (p.Glu983Gln) c.*1430G>C (n.*1430G>C) c.*2954G>C (n.*2954G>C) c.2704G>C (p.Glu902Gln) c.721G>C (p.Glu241Gln) c.780G>C c.1912G>C (p.Glu638Gln) c.3040G>C (p.Glu1014Gln) c.3220G>C (p.Glu1074Gln) c.2887G>C (p.Glu963Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610660G= | CA1737385234 | CFTR | c.3130G= (p.Glu1044=) c.*2844G= (n.*2844G=) c.2947G= (p.Glu983=) c.*1430G= (n.*1430G=) c.*2954G= (n.*2954G=) c.2704G= (p.Glu902=) c.721G= (p.Glu241=) c.780G= c.1912G= (p.Glu638=) c.3040G= (p.Glu1014=) c.3220G= (p.Glu1074=) c.2887G= (p.Glu963=) | |
| 7 | g.117610660G>T | CA368990845 | CFTR | c.3130G>T (p.Glu1044Ter) c.*2844G>T (n.*2844G>T) c.2947G>T (p.Glu983Ter) c.*1430G>T (n.*1430G>T) c.*2954G>T (n.*2954G>T) c.2704G>T (p.Glu902Ter) c.721G>T (p.Glu241Ter) c.780G>T c.1912G>T (p.Glu638Ter) c.3040G>T (p.Glu1014Ter) c.3220G>T (p.Glu1074Ter) c.2887G>T (p.Glu963Ter) | dbSNP |
| 7 | g.117610661A= | CA1737385248 | CFTR | c.3131A= (p.Glu1044=) c.*2845A= (n.*2845A=) c.2948A= (p.Glu983=) c.*1431A= (n.*1431A=) c.*2955A= (n.*2955A=) c.2705A= (p.Glu902=) c.722A= (p.Glu241=) c.781A= c.1913A= (p.Glu638=) c.3041A= (p.Glu1014=) c.3221A= (p.Glu1074=) c.2888A= (p.Glu963=) | |
| 7 | g.117610661A>C | CA368990847 | CFTR | c.3131A>C (p.Glu1044Ala) c.*2845A>C (n.*2845A>C) c.2948A>C (p.Glu983Ala) c.*1431A>C (n.*1431A>C) c.*2955A>C (n.*2955A>C) c.2705A>C (p.Glu902Ala) c.722A>C (p.Glu241Ala) c.781A>C c.1913A>C (p.Glu638Ala) c.3041A>C (p.Glu1014Ala) c.3221A>C (p.Glu1074Ala) c.2888A>C (p.Glu963Ala) | |
| 7 | g.117610661A>G | CA327051 | CFTR | c.3131A>G (p.Glu1044Gly) c.*2845A>G (n.*2845A>G) c.2948A>G (p.Glu983Gly) c.*1431A>G (n.*1431A>G) c.*2955A>G (n.*2955A>G) c.2705A>G (p.Glu902Gly) c.722A>G (p.Glu241Gly) c.781A>G c.1913A>G (p.Glu638Gly) c.3041A>G (p.Glu1014Gly) c.3221A>G (p.Glu1074Gly) c.2888A>G (p.Glu963Gly) | ClinVar dbSNP |
| 7 | g.117610661A>T | CA368990848 | CFTR | c.3131A>T (p.Glu1044Val) c.*2845A>T (n.*2845A>T) c.2948A>T (p.Glu983Val) c.*1431A>T (n.*1431A>T) c.*2955A>T (n.*2955A>T) c.2705A>T (p.Glu902Val) c.722A>T (p.Glu241Val) c.781A>T c.1913A>T (p.Glu638Val) c.3041A>T (p.Glu1014Val) c.3221A>T (p.Glu1074Val) c.2888A>T (p.Glu963Val) | |
| 7 | g.117610662A= | CA1737385256 | CFTR | c.3132A= (p.Glu1044=) c.*2846A= (n.*2846A=) c.2949A= (p.Glu983=) c.*1432A= (n.*1432A=) c.*2956A= (n.*2956A=) c.2706A= (p.Glu902=) c.723A= (p.Glu241=) c.782A= c.1914A= (p.Glu638=) c.3042A= (p.Glu1014=) c.3222A= (p.Glu1074=) c.2889A= (p.Glu963=) | |
| 7 | g.117610662A>C | CA368990849 | CFTR | c.3132A>C (p.Glu1044Asp) c.*2846A>C (n.*2846A>C) c.2949A>C (p.Glu983Asp) c.*1432A>C (n.*1432A>C) c.*2956A>C (n.*2956A>C) c.2706A>C (p.Glu902Asp) c.723A>C (p.Glu241Asp) c.782A>C c.1914A>C (p.Glu638Asp) c.3042A>C (p.Glu1014Asp) c.3222A>C (p.Glu1074Asp) c.2889A>C (p.Glu963Asp) | |
| 7 | g.117610662A>G | CA457229578 | CFTR | c.3132A>G (p.Glu1044=) c.*2846A>G (n.*2846A>G) c.2949A>G (p.Glu983=) c.*1432A>G (n.*1432A>G) c.*2956A>G (n.*2956A>G) c.2706A>G (p.Glu902=) c.723A>G (p.Glu241=) c.782A>G c.1914A>G (p.Glu638=) c.3042A>G (p.Glu1014=) c.3222A>G (p.Glu1074=) c.2889A>G (p.Glu963=) | |
| 7 | g.117610662A>T | CA368990850 | CFTR | c.3132A>T (p.Glu1044Asp) c.*2846A>T (n.*2846A>T) c.2949A>T (p.Glu983Asp) c.*1432A>T (n.*1432A>T) c.*2956A>T (n.*2956A>T) c.2706A>T (p.Glu902Asp) c.723A>T (p.Glu241Asp) c.782A>T c.1914A>T (p.Glu638Asp) c.3042A>T (p.Glu1014Asp) c.3222A>T (p.Glu1074Asp) c.2889A>T (p.Glu963Asp) | dbSNP |
| 7 | g.117610662_117610663insGA | CA1737385255 | CFTR | c.3132_3133insGA (p.Ser1045AspfsTer16) c.*2846_*2847insGA (n.*2846_*2847insGA) c.2949_2950insGA (p.Ser984AspfsTer16) c.*1432_*1433insGA (n.*1432_*1433insGA) c.*2956_*2957insGA (n.*2956_*2957insGA) c.2706_2707insGA (p.Ser903AspfsTer16) c.723_724insGA (p.Ser242AspfsTer16) c.782_783insGA c.1914_1915insGA (p.Ser639AspfsTer16) c.3042_3043insGA (p.Ser1015AspfsTer16) c.3222_3223insGA (p.Ser1075AspfsTer16) c.2889_2890insGA (p.Ser964AspfsTer16) | dbSNP |
| 7 | g.117610663T>A | CA368990851 | CFTR | c.3133T>A (p.Ser1045Thr) c.*2847T>A (n.*2847T>A) c.2950T>A (p.Ser984Thr) c.*1433T>A (n.*1433T>A) c.*2957T>A (n.*2957T>A) c.2707T>A (p.Ser903Thr) c.724T>A (p.Ser242Thr) c.783T>A c.1915T>A (p.Ser639Thr) c.3043T>A (p.Ser1015Thr) c.3223T>A (p.Ser1075Thr) c.2890T>A (p.Ser964Thr) | |
| 7 | g.117610663T>C | CA368990852 | CFTR | c.3133T>C (p.Ser1045Pro) c.*2847T>C (n.*2847T>C) c.2950T>C (p.Ser984Pro) c.*1433T>C (n.*1433T>C) c.*2957T>C (n.*2957T>C) c.2707T>C (p.Ser903Pro) c.724T>C (p.Ser242Pro) c.783T>C c.1915T>C (p.Ser639Pro) c.3043T>C (p.Ser1015Pro) c.3223T>C (p.Ser1075Pro) c.2890T>C (p.Ser964Pro) | |
| 7 | g.117610663T>G | CA368990853 | CFTR | c.3133T>G (p.Ser1045Ala) c.*2847T>G (n.*2847T>G) c.2950T>G (p.Ser984Ala) c.*1433T>G (n.*1433T>G) c.*2957T>G (n.*2957T>G) c.2707T>G (p.Ser903Ala) c.724T>G (p.Ser242Ala) c.783T>G c.1915T>G (p.Ser639Ala) c.3043T>G (p.Ser1015Ala) c.3223T>G (p.Ser1075Ala) c.2890T>G (p.Ser964Ala) | |
| 7 | g.117610664C>A | CA368990854 | CFTR | c.3134C>A (p.Ser1045Tyr) c.*2848C>A (n.*2848C>A) c.2951C>A (p.Ser984Tyr) c.*1434C>A (n.*1434C>A) c.*2958C>A (n.*2958C>A) c.2708C>A (p.Ser903Tyr) c.725C>A (p.Ser242Tyr) c.784C>A c.1916C>A (p.Ser639Tyr) c.3044C>A (p.Ser1015Tyr) c.3224C>A (p.Ser1075Tyr) c.2891C>A (p.Ser964Tyr) | ClinVar dbSNP gnomAD v4 |