Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602152_117612006delCA325806CFTRc.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
7g.117602152_117612040delCA2499218685CFTRc.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
7g.117604867_117612068delCA913190213CFTRc.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
7g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTGCA2580076402CFTRc.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
7g.117606684_117606685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTTCA2580076405CFTRc.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.*2633_*2634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.2736_2737insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.*1219_*1220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.*2743_*2744insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.2493_2494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.510_511insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.569_570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.1701_1702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.2829_2830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.3009_3010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.2676_2677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
 ClinVar
7g.117606674_117606689dupCA577222492CFTRc.2909_2924dup
c.*2623_*2638dup
c.2726_2741dup
c.*1209_*1224dup
c.*2733_*2748dup
c.2483_2498dup
c.500_515dup
c.559_574dup
c.1691_1706dup
c.2819_2834dup
c.2999_3014dup
c.2666_2681dup
 ClinVar gnomAD v2 gnomAD v3 gnomAD v4
7g.117606676_117611810delCA913190200CFTRc.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
7g.117606678_117606715delCA913111895CFTRc.2913_2950del (p.Ile972Ter)
c.*2627_*2664del (n.*2627_*2664del)
c.2730_2767del (p.Ile911Ter)
c.*1213_*1250del (n.*1213_*1250del)
c.*2737_*2774del (n.*2737_*2774del)
c.2487_2524del (p.Ile830Ter)
c.504_541del (p.Ile169Ter)
c.563_600del
c.1695_1732del (p.Ile566Ter)
c.2823_2860del (p.Ile942Ter)
c.3003_3040del (p.Ile1002Ter)
c.2670_2707del (p.Ile891Ter)
7g.117606676G>ACA368988882CFTRc.2911G>A (p.Gly971Arg)
c.*2625G>A (n.*2625G>A)
c.2728G>A (p.Gly910Arg)
c.*1211G>A (n.*1211G>A)
c.*2735G>A (n.*2735G>A)
c.2485G>A (p.Gly829Arg)
c.502G>A (p.Gly168Arg)
c.561G>A
c.1693G>A (p.Gly565Arg)
c.2821G>A (p.Gly941Arg)
c.3001G>A (p.Gly1001Arg)
c.2668G>A (p.Gly890Arg)
 gnomAD v4
7g.117606676G>CCA368988875CFTRc.2911G>C (p.Gly971Arg)
c.*2625G>C (n.*2625G>C)
c.2728G>C (p.Gly910Arg)
c.*1211G>C (n.*1211G>C)
c.*2735G>C (n.*2735G>C)
c.2485G>C (p.Gly829Arg)
c.502G>C (p.Gly168Arg)
c.561G>C
c.1693G>C (p.Gly565Arg)
c.2821G>C (p.Gly941Arg)
c.3001G>C (p.Gly1001Arg)
c.2668G>C (p.Gly890Arg)
7g.117606676G>TCA368988878CFTRc.2911G>T (p.Gly971Trp)
c.*2625G>T (n.*2625G>T)
c.2728G>T (p.Gly910Trp)
c.*1211G>T (n.*1211G>T)
c.*2735G>T (n.*2735G>T)
c.2485G>T (p.Gly829Trp)
c.502G>T (p.Gly168Trp)
c.561G>T
c.1693G>T (p.Gly565Trp)
c.2821G>T (p.Gly941Trp)
c.3001G>T (p.Gly1001Trp)
c.2668G>T (p.Gly890Trp)
7g.117606678delCA2684588063CFTRc.2913del (p.Ile972PhefsTer9)
c.*2627del (n.*2627del)
c.2730del (p.Ile911PhefsTer9)
c.*1213del (n.*1213del)
c.*2737del (n.*2737del)
c.2487del (p.Ile830PhefsTer9)
c.504del (p.Ile169PhefsTer9)
c.563del
c.1695del (p.Ile566PhefsTer9)
c.2823del (p.Ile942PhefsTer9)
c.3003del (p.Ile1002PhefsTer9)
c.2670del (p.Ile891PhefsTer9)
 gnomAD v4
7g.117606676_117606713delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTTCA1737379438CFTRc.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly971=)
c.*2625_*2662delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (n.*2625_*2662delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT)
c.2728_2765delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly910=)
c.*1211_*1248delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (n.*1211_*1248delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT)
c.*2735_*2772delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (n.*2735_*2772delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT)
c.2485_2522delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly829=)
c.502_539delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly168=)
c.561_598delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT
c.1693_1730delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly565=)
c.2821_2858delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly941=)
c.3001_3038delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly1001=)
c.2668_2705delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly890=)
7g.117606677G>ACA368988887CFTRc.2912G>A (p.Gly971Glu)
c.*2626G>A (n.*2626G>A)
c.2729G>A (p.Gly910Glu)
c.*1212G>A (n.*1212G>A)
c.*2736G>A (n.*2736G>A)
c.2486G>A (p.Gly829Glu)
c.503G>A (p.Gly168Glu)
c.562G>A
c.1694G>A (p.Gly565Glu)
c.2822G>A (p.Gly941Glu)
c.3002G>A (p.Gly1001Glu)
c.2669G>A (p.Gly890Glu)
 gnomAD v4 COSMIC
7g.117606677G>CCA368988891CFTRc.2912G>C (p.Gly971Ala)
c.*2626G>C (n.*2626G>C)
c.2729G>C (p.Gly910Ala)
c.*1212G>C (n.*1212G>C)
c.*2736G>C (n.*2736G>C)
c.2486G>C (p.Gly829Ala)
c.503G>C (p.Gly168Ala)
c.562G>C
c.1694G>C (p.Gly565Ala)
c.2822G>C (p.Gly941Ala)
c.3002G>C (p.Gly1001Ala)
c.2669G>C (p.Gly890Ala)
7g.117606677G>TCA368988895CFTRc.2912G>T (p.Gly971Val)
c.*2626G>T (n.*2626G>T)
c.2729G>T (p.Gly910Val)
c.*1212G>T (n.*1212G>T)
c.*2736G>T (n.*2736G>T)
c.2486G>T (p.Gly829Val)
c.503G>T (p.Gly168Val)
c.562G>T
c.1694G>T (p.Gly565Val)
c.2822G>T (p.Gly941Val)
c.3002G>T (p.Gly1001Val)
c.2669G>T (p.Gly890Val)
7g.117606681_117606717delCA658822506CFTRc.2916_2952del (p.Ile972MetfsTer16)
c.*2630_*2666del (n.*2630_*2666del)
c.2733_2769del (p.Ile911MetfsTer16)
c.*1216_*1252del (n.*1216_*1252del)
c.*2740_*2776del (n.*2740_*2776del)
c.2490_2526del (p.Ile830MetfsTer16)
c.507_543del (p.Ile169MetfsTer16)
c.566_602del
c.1698_1734del (p.Ile566MetfsTer16)
c.2826_2862del (p.Ile942MetfsTer16)
c.3006_3042del (p.Ile1002MetfsTer16)
c.2673_2709del (p.Ile891MetfsTer16)
 ClinVar dbSNP
7g.117606678G>ACA457228787CFTRc.2913G>A (p.Gly971=)
c.*2627G>A (n.*2627G>A)
c.2730G>A (p.Gly910=)
c.*1213G>A (n.*1213G>A)
c.*2737G>A (n.*2737G>A)
c.2487G>A (p.Gly829=)
c.504G>A (p.Gly168=)
c.563G>A
c.1695G>A (p.Gly565=)
c.2823G>A (p.Gly941=)
c.3003G>A (p.Gly1001=)
c.2670G>A (p.Gly890=)
 COSMIC
7g.117606678G>CCA457228788CFTRc.2913G>C (p.Gly971=)
c.*2627G>C (n.*2627G>C)
c.2730G>C (p.Gly910=)
c.*1213G>C (n.*1213G>C)
c.*2737G>C (n.*2737G>C)
c.2487G>C (p.Gly829=)
c.504G>C (p.Gly168=)
c.563G>C
c.1695G>C (p.Gly565=)
c.2823G>C (p.Gly941=)
c.3003G>C (p.Gly1001=)
c.2670G>C (p.Gly890=)
 ClinVar
7g.117606678G>TCA457228789CFTRc.2913G>T (p.Gly971=)
c.*2627G>T (n.*2627G>T)
c.2730G>T (p.Gly910=)
c.*1213G>T (n.*1213G>T)
c.*2737G>T (n.*2737G>T)
c.2487G>T (p.Gly829=)
c.504G>T (p.Gly168=)
c.563G>T
c.1695G>T (p.Gly565=)
c.2823G>T (p.Gly941=)
c.3003G>T (p.Gly1001=)
c.2670G>T (p.Gly890=)
 gnomAD v4
7g.117606679A>CCA368988903CFTRc.2914A>C (p.Ile972Leu)
c.*2628A>C (n.*2628A>C)
c.2731A>C (p.Ile911Leu)
c.*1214A>C (n.*1214A>C)
c.*2738A>C (n.*2738A>C)
c.2488A>C (p.Ile830Leu)
c.505A>C (p.Ile169Leu)
c.564A>C
c.1696A>C (p.Ile566Leu)
c.2824A>C (p.Ile942Leu)
c.3004A>C (p.Ile1002Leu)
c.2671A>C (p.Ile891Leu)
 gnomAD v4
7g.117606679A>GCA368988906CFTRc.2914A>G (p.Ile972Val)
c.*2628A>G (n.*2628A>G)
c.2731A>G (p.Ile911Val)
c.*1214A>G (n.*1214A>G)
c.*2738A>G (n.*2738A>G)
c.2488A>G (p.Ile830Val)
c.505A>G (p.Ile169Val)
c.564A>G
c.1696A>G (p.Ile566Val)
c.2824A>G (p.Ile942Val)
c.3004A>G (p.Ile1002Val)
c.2671A>G (p.Ile891Val)
 ClinVar dbSNP gnomAD v4
7g.117606679A>TCA368988908CFTRc.2914A>T (p.Ile972Phe)
c.*2628A>T (n.*2628A>T)
c.2731A>T (p.Ile911Phe)
c.*1214A>T (n.*1214A>T)
c.*2738A>T (n.*2738A>T)
c.2488A>T (p.Ile830Phe)
c.505A>T (p.Ile169Phe)
c.564A>T
c.1696A>T (p.Ile566Phe)
c.2824A>T (p.Ile942Phe)
c.3004A>T (p.Ile1002Phe)
c.2671A>T (p.Ile891Phe)
7g.117606680T>ACA368988909CFTRc.2915T>A (p.Ile972Asn)
c.*2629T>A (n.*2629T>A)
c.2732T>A (p.Ile911Asn)
c.*1215T>A (n.*1215T>A)
c.*2739T>A (n.*2739T>A)
c.2489T>A (p.Ile830Asn)
c.506T>A (p.Ile169Asn)
c.565T>A
c.1697T>A (p.Ile566Asn)
c.2825T>A (p.Ile942Asn)
c.3005T>A (p.Ile1002Asn)
c.2672T>A (p.Ile891Asn)
7g.117606680T>CCA368988910CFTRc.2915T>C (p.Ile972Thr)
c.*2629T>C (n.*2629T>C)
c.2732T>C (p.Ile911Thr)
c.*1215T>C (n.*1215T>C)
c.*2739T>C (n.*2739T>C)
c.2489T>C (p.Ile830Thr)
c.506T>C (p.Ile169Thr)
c.565T>C
c.1697T>C (p.Ile566Thr)
c.2825T>C (p.Ile942Thr)
c.3005T>C (p.Ile1002Thr)
c.2672T>C (p.Ile891Thr)
 gnomAD v4
7g.117606680T>GCA368988911CFTRc.2915T>G (p.Ile972Ser)
c.*2629T>G (n.*2629T>G)
c.2732T>G (p.Ile911Ser)
c.*1215T>G (n.*1215T>G)
c.*2739T>G (n.*2739T>G)
c.2489T>G (p.Ile830Ser)
c.506T>G (p.Ile169Ser)
c.565T>G
c.1697T>G (p.Ile566Ser)
c.2825T>G (p.Ile942Ser)
c.3005T>G (p.Ile1002Ser)
c.2672T>G (p.Ile891Ser)
7g.117606681T>ACA4451327CFTRc.2916T>A (p.Ile972=)
c.*2630T>A (n.*2630T>A)
c.2733T>A (p.Ile911=)
c.*1216T>A (n.*1216T>A)
c.*2740T>A (n.*2740T>A)
c.2490T>A (p.Ile830=)
c.507T>A (p.Ile169=)
c.566T>A
c.1698T>A (p.Ile566=)
c.2826T>A (p.Ile942=)
c.3006T>A (p.Ile1002=)
c.2673T>A (p.Ile891=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606681T>CCA457228790CFTRc.2916T>C (p.Ile972=)
c.*2630T>C (n.*2630T>C)
c.2733T>C (p.Ile911=)
c.*1216T>C (n.*1216T>C)
c.*2740T>C (n.*2740T>C)
c.2490T>C (p.Ile830=)
c.507T>C (p.Ile169=)
c.566T>C
c.1698T>C (p.Ile566=)
c.2826T>C (p.Ile942=)
c.3006T>C (p.Ile1002=)
c.2673T>C (p.Ile891=)
 ClinVar gnomAD v4
7g.117606681T>GCA368988915CFTRc.2916T>G (p.Ile972Met)
c.*2630T>G (n.*2630T>G)
c.2733T>G (p.Ile911Met)
c.*1216T>G (n.*1216T>G)
c.*2740T>G (n.*2740T>G)
c.2490T>G (p.Ile830Met)
c.507T>G (p.Ile169Met)
c.566T>G
c.1698T>G (p.Ile566Met)
c.2826T>G (p.Ile942Met)
c.3006T>G (p.Ile1002Met)
c.2673T>G (p.Ile891Met)
7g.117606681T=CA1737379459CFTRc.2916T= (p.Ile972=)
c.*2630T= (n.*2630T=)
c.2733T= (p.Ile911=)
c.*1216T= (n.*1216T=)
c.*2740T= (n.*2740T=)
c.2490T= (p.Ile830=)
c.507T= (p.Ile169=)
c.566T=
c.1698T= (p.Ile566=)
c.2826T= (p.Ile942=)
c.3006T= (p.Ile1002=)
c.2673T= (p.Ile891=)
7g.117606681_117606682delinsATCA326967CFTRc.2916_2917delinsAT (p.Leu973Phe)
c.*2630_*2631delinsAT (n.*2630_*2631delinsAT)
c.2733_2734delinsAT (p.Leu912Phe)
c.*1216_*1217delinsAT (n.*1216_*1217delinsAT)
c.*2740_*2741delinsAT (n.*2740_*2741delinsAT)
c.2490_2491delinsAT (p.Leu831Phe)
c.507_508delinsAT (p.Leu170Phe)
c.566_567delinsAT
c.1698_1699delinsAT (p.Leu567Phe)
c.2826_2827delinsAT (p.Leu943Phe)
c.3006_3007delinsAT (p.Leu1003Phe)
c.2673_2674delinsAT (p.Leu892Phe)
 ClinVar dbSNP
7g.117606681_117606682delinsTCCA1737379455CFTRc.2916_2917delinsTC (p.Ile972=)
c.*2630_*2631delinsTC (n.*2630_*2631delinsTC)
c.2733_2734delinsTC (p.Ile911=)
c.*1216_*1217delinsTC (n.*1216_*1217delinsTC)
c.*2740_*2741delinsTC (n.*2740_*2741delinsTC)
c.2490_2491delinsTC (p.Ile830=)
c.507_508delinsTC (p.Ile169=)
c.566_567delinsTC
c.1698_1699delinsTC (p.Ile566=)
c.2826_2827delinsTC (p.Ile942=)
c.3006_3007delinsTC (p.Ile1002=)
c.2673_2674delinsTC (p.Ile891=)
7g.117606682C>ACA368988921CFTRc.2917C>A (p.Leu973Ile)
c.*2631C>A (n.*2631C>A)
c.2734C>A (p.Leu912Ile)
c.*1217C>A (n.*1217C>A)
c.*2741C>A (n.*2741C>A)
c.2491C>A (p.Leu831Ile)
c.508C>A (p.Leu170Ile)
c.567C>A
c.1699C>A (p.Leu567Ile)
c.2827C>A (p.Leu943Ile)
c.3007C>A (p.Leu1003Ile)
c.2674C>A (p.Leu892Ile)
 gnomAD v4
7g.117606682C=CA1737379467CFTRc.2917C= (p.Leu973=)
c.*2631C= (n.*2631C=)
c.2734C= (p.Leu912=)
c.*1217C= (n.*1217C=)
c.*2741C= (n.*2741C=)
c.2491C= (p.Leu831=)
c.508C= (p.Leu170=)
c.567C=
c.1699C= (p.Leu567=)
c.2827C= (p.Leu943=)
c.3007C= (p.Leu1003=)
c.2674C= (p.Leu892=)
7g.117606682C>GCA368988927CFTRc.2917C>G (p.Leu973Val)
c.*2631C>G (n.*2631C>G)
c.2734C>G (p.Leu912Val)
c.*1217C>G (n.*1217C>G)
c.*2741C>G (n.*2741C>G)
c.2491C>G (p.Leu831Val)
c.508C>G (p.Leu170Val)
c.567C>G
c.1699C>G (p.Leu567Val)
c.2827C>G (p.Leu943Val)
c.3007C>G (p.Leu1003Val)
c.2674C>G (p.Leu892Val)
7g.117606682C>TCA4451328CFTRc.2917C>T (p.Leu973Phe)
c.*2631C>T (n.*2631C>T)
c.2734C>T (p.Leu912Phe)
c.*1217C>T (n.*1217C>T)
c.*2741C>T (n.*2741C>T)
c.2491C>T (p.Leu831Phe)
c.508C>T (p.Leu170Phe)
c.567C>T
c.1699C>T (p.Leu567Phe)
c.2827C>T (p.Leu943Phe)
c.3007C>T (p.Leu1003Phe)
c.2674C>T (p.Leu892Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606683T>ACA326969CFTRc.2918T>A (p.Leu973His)
c.*2632T>A (n.*2632T>A)
c.2735T>A (p.Leu912His)
c.*1218T>A (n.*1218T>A)
c.*2742T>A (n.*2742T>A)
c.2492T>A (p.Leu831His)
c.509T>A (p.Leu170His)
c.568T>A
c.1700T>A (p.Leu567His)
c.2828T>A (p.Leu943His)
c.3008T>A (p.Leu1003His)
c.2675T>A (p.Leu892His)
 dbSNP
7g.117606683T>CCA326971CFTRc.2918T>C (p.Leu973Pro)
c.*2632T>C (n.*2632T>C)
c.2735T>C (p.Leu912Pro)
c.*1218T>C (n.*1218T>C)
c.*2742T>C (n.*2742T>C)
c.2492T>C (p.Leu831Pro)
c.509T>C (p.Leu170Pro)
c.568T>C
c.1700T>C (p.Leu567Pro)
c.2828T>C (p.Leu943Pro)
c.3008T>C (p.Leu1003Pro)
c.2675T>C (p.Leu892Pro)
 ClinVar dbSNP gnomAD v4
7g.117606683T>GCA368988934CFTRc.2918T>G (p.Leu973Arg)
c.*2632T>G (n.*2632T>G)
c.2735T>G (p.Leu912Arg)
c.*1218T>G (n.*1218T>G)
c.*2742T>G (n.*2742T>G)
c.2492T>G (p.Leu831Arg)
c.509T>G (p.Leu170Arg)
c.568T>G
c.1700T>G (p.Leu567Arg)
c.2828T>G (p.Leu943Arg)
c.3008T>G (p.Leu1003Arg)
c.2675T>G (p.Leu892Arg)
7g.117606683T=CA1737379469CFTRc.2918T= (p.Leu973=)
c.*2632T= (n.*2632T=)
c.2735T= (p.Leu912=)
c.*1218T= (n.*1218T=)
c.*2742T= (n.*2742T=)
c.2492T= (p.Leu831=)
c.509T= (p.Leu170=)
c.568T=
c.1700T= (p.Leu567=)
c.2828T= (p.Leu943=)
c.3008T= (p.Leu1003=)
c.2675T= (p.Leu892=)
7g.117606684T>ACA457228791CFTRc.2919T>A (p.Leu973=)
c.*2633T>A (n.*2633T>A)
c.2736T>A (p.Leu912=)
c.*1219T>A (n.*1219T>A)
c.*2743T>A (n.*2743T>A)
c.2493T>A (p.Leu831=)
c.510T>A (p.Leu170=)
c.569T>A
c.1701T>A (p.Leu567=)
c.2829T>A (p.Leu943=)
c.3009T>A (p.Leu1003=)
c.2676T>A (p.Leu892=)
 ClinVar dbSNP gnomAD v4
7g.117606684T>CCA457228792CFTRc.2919T>C (p.Leu973=)
c.*2633T>C (n.*2633T>C)
c.2736T>C (p.Leu912=)
c.*1219T>C (n.*1219T>C)
c.*2743T>C (n.*2743T>C)
c.2493T>C (p.Leu831=)
c.510T>C (p.Leu170=)
c.569T>C
c.1701T>C (p.Leu567=)
c.2829T>C (p.Leu943=)
c.3009T>C (p.Leu1003=)
c.2676T>C (p.Leu892=)
 dbSNP gnomAD v2 gnomAD v4
7g.117606684T>GCA457228793CFTRc.2919T>G (p.Leu973=)
c.*2633T>G (n.*2633T>G)
c.2736T>G (p.Leu912=)
c.*1219T>G (n.*1219T>G)
c.*2743T>G (n.*2743T>G)
c.2493T>G (p.Leu831=)
c.510T>G (p.Leu170=)
c.569T>G
c.1701T>G (p.Leu567=)
c.2829T>G (p.Leu943=)
c.3009T>G (p.Leu1003=)
c.2676T>G (p.Leu892=)
7g.117606684T=CA1737379479CFTRc.2919T= (p.Leu973=)
c.*2633T= (n.*2633T=)
c.2736T= (p.Leu912=)
c.*1219T= (n.*1219T=)
c.*2743T= (n.*2743T=)
c.2493T= (p.Leu831=)
c.510T= (p.Leu170=)
c.569T=
c.1701T= (p.Leu567=)
c.2829T= (p.Leu943=)
c.3009T= (p.Leu1003=)
c.2676T= (p.Leu892=)
7g.117606685A>CCA368988937CFTRc.2920A>C (p.Asn974His)
c.*2634A>C (n.*2634A>C)
c.2737A>C (p.Asn913His)
c.*1220A>C (n.*1220A>C)
c.*2744A>C (n.*2744A>C)
c.2494A>C (p.Asn832His)
c.511A>C (p.Asn171His)
c.570A>C
c.1702A>C (p.Asn568His)
c.2830A>C (p.Asn944His)
c.3010A>C (p.Asn1004His)
c.2677A>C (p.Asn893His)
7g.117606685A>GCA368988940CFTRc.2920A>G (p.Asn974Asp)
c.*2634A>G (n.*2634A>G)
c.2737A>G (p.Asn913Asp)
c.*1220A>G (n.*1220A>G)
c.*2744A>G (n.*2744A>G)
c.2494A>G (p.Asn832Asp)
c.511A>G (p.Asn171Asp)
c.570A>G
c.1702A>G (p.Asn568Asp)
c.2830A>G (p.Asn944Asp)
c.3010A>G (p.Asn1004Asp)
c.2677A>G (p.Asn893Asp)
7g.117606685A>TCA368988943CFTRc.2920A>T (p.Asn974Tyr)
c.*2634A>T (n.*2634A>T)
c.2737A>T (p.Asn913Tyr)
c.*1220A>T (n.*1220A>T)
c.*2744A>T (n.*2744A>T)
c.2494A>T (p.Asn832Tyr)
c.511A>T (p.Asn171Tyr)
c.570A>T
c.1702A>T (p.Asn568Tyr)
c.2830A>T (p.Asn944Tyr)
c.3010A>T (p.Asn1004Tyr)
c.2677A>T (p.Asn893Tyr)
7g.117606686A>CCA368988948CFTRc.2921A>C (p.Asn974Thr)
c.*2635A>C (n.*2635A>C)
c.2738A>C (p.Asn913Thr)
c.*1221A>C (n.*1221A>C)
c.*2745A>C (n.*2745A>C)
c.2495A>C (p.Asn832Thr)
c.512A>C (p.Asn171Thr)
c.571A>C
c.1703A>C (p.Asn568Thr)
c.2831A>C (p.Asn944Thr)
c.3011A>C (p.Asn1004Thr)
c.2678A>C (p.Asn893Thr)
7g.117606686A>GCA368988953CFTRc.2921A>G (p.Asn974Ser)
c.*2635A>G (n.*2635A>G)
c.2738A>G (p.Asn913Ser)
c.*1221A>G (n.*1221A>G)
c.*2745A>G (n.*2745A>G)
c.2495A>G (p.Asn832Ser)
c.512A>G (p.Asn171Ser)
c.571A>G
c.1703A>G (p.Asn568Ser)
c.2831A>G (p.Asn944Ser)
c.3011A>G (p.Asn1004Ser)
c.2678A>G (p.Asn893Ser)
 gnomAD v4
7g.117606686A>TCA368988954CFTRc.2921A>T (p.Asn974Ile)
c.*2635A>T (n.*2635A>T)
c.2738A>T (p.Asn913Ile)
c.*1221A>T (n.*1221A>T)
c.*2745A>T (n.*2745A>T)
c.2495A>T (p.Asn832Ile)
c.512A>T (p.Asn171Ile)
c.571A>T
c.1703A>T (p.Asn568Ile)
c.2831A>T (p.Asn944Ile)
c.3011A>T (p.Asn1004Ile)
c.2678A>T (p.Asn893Ile)
7g.117606687T>ACA368988956CFTRc.2922T>A (p.Asn974Lys)
c.*2636T>A (n.*2636T>A)
c.2739T>A (p.Asn913Lys)
c.*1222T>A (n.*1222T>A)
c.*2746T>A (n.*2746T>A)
c.2496T>A (p.Asn832Lys)
c.513T>A (p.Asn171Lys)
c.572T>A
c.1704T>A (p.Asn568Lys)
c.2832T>A (p.Asn944Lys)
c.3012T>A (p.Asn1004Lys)
c.2679T>A (p.Asn893Lys)
7g.117606687T>CCA457228794CFTRc.2922T>C (p.Asn974=)
c.*2636T>C (n.*2636T>C)
c.2739T>C (p.Asn913=)
c.*1222T>C (n.*1222T>C)
c.*2746T>C (n.*2746T>C)
c.2496T>C (p.Asn832=)
c.513T>C (p.Asn171=)
c.572T>C
c.1704T>C (p.Asn568=)
c.2832T>C (p.Asn944=)
c.3012T>C (p.Asn1004=)
c.2679T>C (p.Asn893=)
 ClinVar gnomAD v4
7g.117606687T>GCA368988960CFTRc.2922T>G (p.Asn974Lys)
c.*2636T>G (n.*2636T>G)
c.2739T>G (p.Asn913Lys)
c.*1222T>G (n.*1222T>G)
c.*2746T>G (n.*2746T>G)
c.2496T>G (p.Asn832Lys)
c.513T>G (p.Asn171Lys)
c.572T>G
c.1704T>G (p.Asn568Lys)
c.2832T>G (p.Asn944Lys)
c.3012T>G (p.Asn1004Lys)
c.2679T>G (p.Asn893Lys)
7g.117606687_117606689delinsTAGCA1737379482CFTRc.2922_2924delinsTAG (p.Asn974=)
c.*2636_*2638delinsTAG (n.*2636_*2638delinsTAG)
c.2739_2741delinsTAG (p.Asn913=)
c.*1222_*1224delinsTAG (n.*1222_*1224delinsTAG)
c.*2746_*2748delinsTAG (n.*2746_*2748delinsTAG)
c.2496_2498delinsTAG (p.Asn832=)
c.513_515delinsTAG (p.Asn171=)
c.572_574delinsTAG
c.1704_1706delinsTAG (p.Asn568=)
c.2832_2834delinsTAG (p.Asn944=)
c.3012_3014delinsTAG (p.Asn1004=)
c.2679_2681delinsTAG (p.Asn893=)
7g.117606688A>CCA457228795CFTRc.2923A>C (p.Arg975=)
c.*2637A>C (n.*2637A>C)
c.2740A>C (p.Arg914=)
c.*1223A>C (n.*1223A>C)
c.*2747A>C (n.*2747A>C)
c.2497A>C (p.Arg833=)
c.514A>C (p.Arg172=)
c.573A>C
c.1705A>C (p.Arg569=)
c.2833A>C (p.Arg945=)
c.3013A>C (p.Arg1005=)
c.2680A>C (p.Arg894=)
7g.117606688A>GCA368988963CFTRc.2923A>G (p.Arg975Gly)
c.*2637A>G (n.*2637A>G)
c.2740A>G (p.Arg914Gly)
c.*1223A>G (n.*1223A>G)
c.*2747A>G (n.*2747A>G)
c.2497A>G (p.Arg833Gly)
c.514A>G (p.Arg172Gly)
c.573A>G
c.1705A>G (p.Arg569Gly)
c.2833A>G (p.Arg945Gly)
c.3013A>G (p.Arg1005Gly)
c.2680A>G (p.Arg894Gly)
 gnomAD v4
7g.117606688A>TCA368988965CFTRc.2923A>T (p.Arg975Ter)
c.*2637A>T (n.*2637A>T)
c.2740A>T (p.Arg914Ter)
c.*1223A>T (n.*1223A>T)
c.*2747A>T (n.*2747A>T)
c.2497A>T (p.Arg833Ter)
c.514A>T (p.Arg172Ter)
c.573A>T
c.1705A>T (p.Arg569Ter)
c.2833A>T (p.Arg945Ter)
c.3013A>T (p.Arg1005Ter)
c.2680A>T (p.Arg894Ter)
 gnomAD v4
7g.117606689_117606690delCA915945432CFTRc.2924_2925del (p.Arg975IlefsTer10)
c.*2638_*2639del (n.*2638_*2639del)
c.2741_2742del (p.Arg914IlefsTer10)
c.*1224_*1225del (n.*1224_*1225del)
c.*2748_*2749del (n.*2748_*2749del)
c.2498_2499del (p.Arg833IlefsTer10)
c.515_516del (p.Arg172IlefsTer10)
c.574_575del
c.1706_1707del (p.Arg569IlefsTer10)
c.2834_2835del (p.Arg945IlefsTer10)
c.3014_3015del (p.Arg1005IlefsTer10)
c.2681_2682del (p.Arg894IlefsTer10)
 ClinVar dbSNP gnomAD v4
7g.117606689G>ACA368988969CFTRc.2924G>A (p.Arg975Lys)
c.*2638G>A (n.*2638G>A)
c.2741G>A (p.Arg914Lys)
c.*1224G>A (n.*1224G>A)
c.*2748G>A (n.*2748G>A)
c.2498G>A (p.Arg833Lys)
c.515G>A (p.Arg172Lys)
c.574G>A
c.1706G>A (p.Arg569Lys)
c.2834G>A (p.Arg945Lys)
c.3014G>A (p.Arg1005Lys)
c.2681G>A (p.Arg894Lys)
7g.117606689G>CCA368988973CFTRc.2924G>C (p.Arg975Thr)
c.*2638G>C (n.*2638G>C)
c.2741G>C (p.Arg914Thr)
c.*1224G>C (n.*1224G>C)
c.*2748G>C (n.*2748G>C)
c.2498G>C (p.Arg833Thr)
c.515G>C (p.Arg172Thr)
c.574G>C
c.1706G>C (p.Arg569Thr)
c.2834G>C (p.Arg945Thr)
c.3014G>C (p.Arg1005Thr)
c.2681G>C (p.Arg894Thr)
7g.117606689G>TCA368988972CFTRc.2924G>T (p.Arg975Ile)
c.*2638G>T (n.*2638G>T)
c.2741G>T (p.Arg914Ile)
c.*1224G>T (n.*1224G>T)
c.*2748G>T (n.*2748G>T)
c.2498G>T (p.Arg833Ile)
c.515G>T (p.Arg172Ile)
c.574G>T
c.1706G>T (p.Arg569Ile)
c.2834G>T (p.Arg945Ile)
c.3014G>T (p.Arg1005Ile)
c.2681G>T (p.Arg894Ile)
7g.117606690A=CA1737379491CFTRc.2925A= (p.Arg975=)
c.*2639A= (n.*2639A=)
c.2742A= (p.Arg914=)
c.*1225A= (n.*1225A=)
c.*2749A= (n.*2749A=)
c.2499A= (p.Arg833=)
c.516A= (p.Arg172=)
c.575A=
c.1707A= (p.Arg569=)
c.2835A= (p.Arg945=)
c.3015A= (p.Arg1005=)
c.2682A= (p.Arg894=)
7g.117606690A>CCA368988978CFTRc.2925A>C (p.Arg975Ser)
c.*2639A>C (n.*2639A>C)
c.2742A>C (p.Arg914Ser)
c.*1225A>C (n.*1225A>C)
c.*2749A>C (n.*2749A>C)
c.2499A>C (p.Arg833Ser)
c.516A>C (p.Arg172Ser)
c.575A>C
c.1707A>C (p.Arg569Ser)
c.2835A>C (p.Arg945Ser)
c.3015A>C (p.Arg1005Ser)
c.2682A>C (p.Arg894Ser)
7g.117606690A>GCA457228796CFTRc.2925A>G (p.Arg975=)
c.*2639A>G (n.*2639A>G)
c.2742A>G (p.Arg914=)
c.*1225A>G (n.*1225A>G)
c.*2749A>G (n.*2749A>G)
c.2499A>G (p.Arg833=)
c.516A>G (p.Arg172=)
c.575A>G
c.1707A>G (p.Arg569=)
c.2835A>G (p.Arg945=)
c.3015A>G (p.Arg1005=)
c.2682A>G (p.Arg894=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117606690A>TCA368988981CFTRc.2925A>T (p.Arg975Ser)
c.*2639A>T (n.*2639A>T)
c.2742A>T (p.Arg914Ser)
c.*1225A>T (n.*1225A>T)
c.*2749A>T (n.*2749A>T)
c.2499A>T (p.Arg833Ser)
c.516A>T (p.Arg172Ser)
c.575A>T
c.1707A>T (p.Arg569Ser)
c.2835A>T (p.Arg945Ser)
c.3015A>T (p.Arg1005Ser)
c.2682A>T (p.Arg894Ser)
7g.117606691T>ACA368988984CFTRc.2926T>A (p.Phe976Ile)
c.*2640T>A (n.*2640T>A)
c.2743T>A (p.Phe915Ile)
c.*1226T>A (n.*1226T>A)
c.*2750T>A (n.*2750T>A)
c.2500T>A (p.Phe834Ile)
c.517T>A (p.Phe173Ile)
c.576T>A
c.1708T>A (p.Phe570Ile)
c.2836T>A (p.Phe946Ile)
c.3016T>A (p.Phe1006Ile)
c.2683T>A (p.Phe895Ile)
7g.117606691T>CCA368988986CFTRc.2926T>C (p.Phe976Leu)
c.*2640T>C (n.*2640T>C)
c.2743T>C (p.Phe915Leu)
c.*1226T>C (n.*1226T>C)
c.*2750T>C (n.*2750T>C)
c.2500T>C (p.Phe834Leu)
c.517T>C (p.Phe173Leu)
c.576T>C
c.1708T>C (p.Phe570Leu)
c.2836T>C (p.Phe946Leu)
c.3016T>C (p.Phe1006Leu)
c.2683T>C (p.Phe895Leu)
 gnomAD v4
7g.117606691T>GCA368988991CFTRc.2926T>G (p.Phe976Val)
c.*2640T>G (n.*2640T>G)
c.2743T>G (p.Phe915Val)
c.*1226T>G (n.*1226T>G)
c.*2750T>G (n.*2750T>G)
c.2500T>G (p.Phe834Val)
c.517T>G (p.Phe173Val)
c.576T>G
c.1708T>G (p.Phe570Val)
c.2836T>G (p.Phe946Val)
c.3016T>G (p.Phe1006Val)
c.2683T>G (p.Phe895Val)
7g.117606692T>ACA368988995CFTRc.2927T>A (p.Phe976Tyr)
c.*2641T>A (n.*2641T>A)
c.2744T>A (p.Phe915Tyr)
c.*1227T>A (n.*1227T>A)
c.*2751T>A (n.*2751T>A)
c.2501T>A (p.Phe834Tyr)
c.518T>A (p.Phe173Tyr)
c.577T>A
c.1709T>A (p.Phe570Tyr)
c.2837T>A (p.Phe946Tyr)
c.3017T>A (p.Phe1006Tyr)
c.2684T>A (p.Phe895Tyr)
7g.117606692T>CCA4451329CFTRc.2927T>C (p.Phe976Ser)
c.*2641T>C (n.*2641T>C)
c.2744T>C (p.Phe915Ser)
c.*1227T>C (n.*1227T>C)
c.*2751T>C (n.*2751T>C)
c.2501T>C (p.Phe834Ser)
c.518T>C (p.Phe173Ser)
c.577T>C
c.1709T>C (p.Phe570Ser)
c.2837T>C (p.Phe946Ser)
c.3017T>C (p.Phe1006Ser)
c.2684T>C (p.Phe895Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117606692T>GCA368989000CFTRc.2927T>G (p.Phe976Cys)
c.*2641T>G (n.*2641T>G)
c.2744T>G (p.Phe915Cys)
c.*1227T>G (n.*1227T>G)
c.*2751T>G (n.*2751T>G)
c.2501T>G (p.Phe834Cys)
c.518T>G (p.Phe173Cys)
c.577T>G
c.1709T>G (p.Phe570Cys)
c.2837T>G (p.Phe946Cys)
c.3017T>G (p.Phe1006Cys)
c.2684T>G (p.Phe895Cys)
7g.117606692T=CA1737379496CFTRc.2927T= (p.Phe976=)
c.*2641T= (n.*2641T=)
c.2744T= (p.Phe915=)
c.*1227T= (n.*1227T=)
c.*2751T= (n.*2751T=)
c.2501T= (p.Phe834=)
c.518T= (p.Phe173=)
c.577T=
c.1709T= (p.Phe570=)
c.2837T= (p.Phe946=)
c.3017T= (p.Phe1006=)
c.2684T= (p.Phe895=)
7g.117606693C>ACA4451331CFTRc.2928C>A (p.Phe976Leu)
c.*2642C>A (n.*2642C>A)
c.2745C>A (p.Phe915Leu)
c.*1228C>A (n.*1228C>A)
c.*2752C>A (n.*2752C>A)
c.2502C>A (p.Phe834Leu)
c.519C>A (p.Phe173Leu)
c.578C>A
c.1710C>A (p.Phe570Leu)
c.2838C>A (p.Phe946Leu)
c.3018C>A (p.Phe1006Leu)
c.2685C>A (p.Phe895Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117606693C=CA1737379506CFTRc.2928C= (p.Phe976=)
c.*2642C= (n.*2642C=)
c.2745C= (p.Phe915=)
c.*1228C= (n.*1228C=)
c.*2752C= (n.*2752C=)
c.2502C= (p.Phe834=)
c.519C= (p.Phe173=)
c.578C=
c.1710C= (p.Phe570=)
c.2838C= (p.Phe946=)
c.3018C= (p.Phe1006=)
c.2685C= (p.Phe895=)
7g.117606693C>GCA4451330CFTRc.2928C>G (p.Phe976Leu)
c.*2642C>G (n.*2642C>G)
c.2745C>G (p.Phe915Leu)
c.*1228C>G (n.*1228C>G)
c.*2752C>G (n.*2752C>G)
c.2502C>G (p.Phe834Leu)
c.519C>G (p.Phe173Leu)
c.578C>G
c.1710C>G (p.Phe570Leu)
c.2838C>G (p.Phe946Leu)
c.3018C>G (p.Phe1006Leu)
c.2685C>G (p.Phe895Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606693C>TCA457228800CFTRc.2928C>T (p.Phe976=)
c.*2642C>T (n.*2642C>T)
c.2745C>T (p.Phe915=)
c.*1228C>T (n.*1228C>T)
c.*2752C>T (n.*2752C>T)
c.2502C>T (p.Phe834=)
c.519C>T (p.Phe173=)
c.578C>T
c.1710C>T (p.Phe570=)
c.2838C>T (p.Phe946=)
c.3018C>T (p.Phe1006=)
c.2685C>T (p.Phe895=)
7g.117606694T>ACA368989010CFTRc.2929T>A (p.Ser977Thr)
c.*2643T>A (n.*2643T>A)
c.2746T>A (p.Ser916Thr)
c.*1229T>A (n.*1229T>A)
c.*2753T>A (n.*2753T>A)
c.2503T>A (p.Ser835Thr)
c.520T>A (p.Ser174Thr)
c.579T>A
c.1711T>A (p.Ser571Thr)
c.2839T>A (p.Ser947Thr)
c.3019T>A (p.Ser1007Thr)
c.2686T>A (p.Ser896Thr)
7g.117606694T>CCA326973CFTRc.2929T>C (p.Ser977Pro)
c.*2643T>C (n.*2643T>C)
c.2746T>C (p.Ser916Pro)
c.*1229T>C (n.*1229T>C)
c.*2753T>C (n.*2753T>C)
c.2503T>C (p.Ser835Pro)
c.520T>C (p.Ser174Pro)
c.579T>C
c.1711T>C (p.Ser571Pro)
c.2839T>C (p.Ser947Pro)
c.3019T>C (p.Ser1007Pro)
c.2686T>C (p.Ser896Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117606694T>GCA4451332CFTRc.2929T>G (p.Ser977Ala)
c.*2643T>G (n.*2643T>G)
c.2746T>G (p.Ser916Ala)
c.*1229T>G (n.*1229T>G)
c.*2753T>G (n.*2753T>G)
c.2503T>G (p.Ser835Ala)
c.520T>G (p.Ser174Ala)
c.579T>G
c.1711T>G (p.Ser571Ala)
c.2839T>G (p.Ser947Ala)
c.3019T>G (p.Ser1007Ala)
c.2686T>G (p.Ser896Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606694T=CA1737379516CFTRc.2929T= (p.Ser977=)
c.*2643T= (n.*2643T=)
c.2746T= (p.Ser916=)
c.*1229T= (n.*1229T=)
c.*2753T= (n.*2753T=)
c.2503T= (p.Ser835=)
c.520T= (p.Ser174=)
c.579T=
c.1711T= (p.Ser571=)
c.2839T= (p.Ser947=)
c.3019T= (p.Ser1007=)
c.2686T= (p.Ser896=)
7g.117606695C>ACA368989016CFTRc.2930C>A (p.Ser977Tyr)
c.*2644C>A (n.*2644C>A)
c.2747C>A (p.Ser916Tyr)
c.*1230C>A (n.*1230C>A)
c.*2754C>A (n.*2754C>A)
c.2504C>A (p.Ser835Tyr)
c.521C>A (p.Ser174Tyr)
c.580C>A
c.1712C>A (p.Ser571Tyr)
c.2840C>A (p.Ser947Tyr)
c.3020C>A (p.Ser1007Tyr)
c.2687C>A (p.Ser896Tyr)
7g.117606695C=CA1737379527CFTRc.2930C= (p.Ser977=)
c.*2644C= (n.*2644C=)
c.2747C= (p.Ser916=)
c.*1230C= (n.*1230C=)
c.*2754C= (n.*2754C=)
c.2504C= (p.Ser835=)
c.521C= (p.Ser174=)
c.580C=
c.1712C= (p.Ser571=)
c.2840C= (p.Ser947=)
c.3020C= (p.Ser1007=)
c.2687C= (p.Ser896=)
7g.117606695C>GCA368989013CFTRc.2930C>G (p.Ser977Cys)
c.*2644C>G (n.*2644C>G)
c.2747C>G (p.Ser916Cys)
c.*1230C>G (n.*1230C>G)
c.*2754C>G (n.*2754C>G)
c.2504C>G (p.Ser835Cys)
c.521C>G (p.Ser174Cys)
c.580C>G
c.1712C>G (p.Ser571Cys)
c.2840C>G (p.Ser947Cys)
c.3020C>G (p.Ser1007Cys)
c.2687C>G (p.Ser896Cys)
 dbSNP gnomAD v2 gnomAD v4
7g.117606695C>TCA326975CFTRc.2930C>T (p.Ser977Phe)
c.*2644C>T (n.*2644C>T)
c.2747C>T (p.Ser916Phe)
c.*1230C>T (n.*1230C>T)
c.*2754C>T (n.*2754C>T)
c.2504C>T (p.Ser835Phe)
c.521C>T (p.Ser174Phe)
c.580C>T
c.1712C>T (p.Ser571Phe)
c.2840C>T (p.Ser947Phe)
c.3020C>T (p.Ser1007Phe)
c.2687C>T (p.Ser896Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117606696C>ACA457228802CFTRc.2931C>A (p.Ser977=)
c.*2645C>A (n.*2645C>A)
c.2748C>A (p.Ser916=)
c.*1231C>A (n.*1231C>A)
c.*2755C>A (n.*2755C>A)
c.2505C>A (p.Ser835=)
c.522C>A (p.Ser174=)
c.581C>A
c.1713C>A (p.Ser571=)
c.2841C>A (p.Ser947=)
c.3021C>A (p.Ser1007=)
c.2688C>A (p.Ser896=)
 gnomAD v4
7g.117606696C=CA1737379530CFTRc.2931C= (p.Ser977=)
c.*2645C= (n.*2645C=)
c.2748C= (p.Ser916=)
c.*1231C= (n.*1231C=)
c.*2755C= (n.*2755C=)
c.2505C= (p.Ser835=)
c.522C= (p.Ser174=)
c.581C=
c.1713C= (p.Ser571=)
c.2841C= (p.Ser947=)
c.3021C= (p.Ser1007=)
c.2688C= (p.Ser896=)
7g.117606696C>GCA457228803CFTRc.2931C>G (p.Ser977=)
c.*2645C>G (n.*2645C>G)
c.2748C>G (p.Ser916=)
c.*1231C>G (n.*1231C>G)
c.*2755C>G (n.*2755C>G)
c.2505C>G (p.Ser835=)
c.522C>G (p.Ser174=)
c.581C>G
c.1713C>G (p.Ser571=)
c.2841C>G (p.Ser947=)
c.3021C>G (p.Ser1007=)
c.2688C>G (p.Ser896=)
7g.117606696C>TCA457228804CFTRc.2931C>T (p.Ser977=)
c.*2645C>T (n.*2645C>T)
c.2748C>T (p.Ser916=)
c.*1231C>T (n.*1231C>T)
c.*2755C>T (n.*2755C>T)
c.2505C>T (p.Ser835=)
c.522C>T (p.Ser174=)
c.581C>T
c.1713C>T (p.Ser571=)
c.2841C>T (p.Ser947=)
c.3021C>T (p.Ser1007=)
c.2688C>T (p.Ser896=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117606697A=CA1737379535CFTRc.2932A= (p.Lys978=)
c.*2646A= (n.*2646A=)
c.2749A= (p.Lys917=)
c.*1232A= (n.*1232A=)
c.*2756A= (n.*2756A=)
c.2506A= (p.Lys836=)
c.523A= (p.Lys175=)
c.582A=
c.1714A= (p.Lys572=)
c.2842A= (p.Lys948=)
c.3022A= (p.Lys1008=)
c.2689A= (p.Lys897=)
7g.117606697A>CCA368989018CFTRc.2932A>C (p.Lys978Gln)
c.*2646A>C (n.*2646A>C)
c.2749A>C (p.Lys917Gln)
c.*1232A>C (n.*1232A>C)
c.*2756A>C (n.*2756A>C)
c.2506A>C (p.Lys836Gln)
c.523A>C (p.Lys175Gln)
c.582A>C
c.1714A>C (p.Lys572Gln)
c.2842A>C (p.Lys948Gln)
c.3022A>C (p.Lys1008Gln)
c.2689A>C (p.Lys897Gln)
7g.117606697A>GCA368989020CFTRc.2932A>G (p.Lys978Glu)
c.*2646A>G (n.*2646A>G)
c.2749A>G (p.Lys917Glu)
c.*1232A>G (n.*1232A>G)
c.*2756A>G (n.*2756A>G)
c.2506A>G (p.Lys836Glu)
c.523A>G (p.Lys175Glu)
c.582A>G
c.1714A>G (p.Lys572Glu)
c.2842A>G (p.Lys948Glu)
c.3022A>G (p.Lys1008Glu)
c.2689A>G (p.Lys897Glu)
7g.117606697A>TCA325702CFTRc.2932A>T (p.Lys978Ter)
c.*2646A>T (n.*2646A>T)
c.2749A>T (p.Lys917Ter)
c.*1232A>T (n.*1232A>T)
c.*2756A>T (n.*2756A>T)
c.2506A>T (p.Lys836Ter)
c.523A>T (p.Lys175Ter)
c.582A>T
c.1714A>T (p.Lys572Ter)
c.2842A>T (p.Lys948Ter)
c.3022A>T (p.Lys1008Ter)
c.2689A>T (p.Lys897Ter)
 ClinVar dbSNP
7g.117606698_117606699delCA2695208424CFTRc.2933_2934del (p.Lys978ArgfsTer7)
c.*2647_*2648del (n.*2647_*2648del)
c.2750_2751del (p.Lys917ArgfsTer7)
c.*1233_*1234del (n.*1233_*1234del)
c.*2757_*2758del (n.*2757_*2758del)
c.2507_2508del (p.Lys836ArgfsTer7)
c.524_525del (p.Lys175ArgfsTer7)
c.583_584del
c.1715_1716del (p.Lys572ArgfsTer7)
c.2843_2844del (p.Lys948ArgfsTer7)
c.3023_3024del (p.Lys1008ArgfsTer7)
c.2690_2691del (p.Lys897ArgfsTer7)
7g.117606698A=CA1737379542CFTRc.2933A= (p.Lys978=)
c.*2647A= (n.*2647A=)
c.2750A= (p.Lys917=)
c.*1233A= (n.*1233A=)
c.*2757A= (n.*2757A=)
c.2507A= (p.Lys836=)
c.524A= (p.Lys175=)
c.583A=
c.1715A= (p.Lys572=)
c.2843A= (p.Lys948=)
c.3023A= (p.Lys1008=)
c.2690A= (p.Lys897=)
7g.117606698A>CCA368989024CFTRc.2933A>C (p.Lys978Thr)
c.*2647A>C (n.*2647A>C)
c.2750A>C (p.Lys917Thr)
c.*1233A>C (n.*1233A>C)
c.*2757A>C (n.*2757A>C)
c.2507A>C (p.Lys836Thr)
c.524A>C (p.Lys175Thr)
c.583A>C
c.1715A>C (p.Lys572Thr)
c.2843A>C (p.Lys948Thr)
c.3023A>C (p.Lys1008Thr)
c.2690A>C (p.Lys897Thr)
7g.117606698A>GCA164962410CFTRc.2933A>G (p.Lys978Arg)
c.*2647A>G (n.*2647A>G)
c.2750A>G (p.Lys917Arg)
c.*1233A>G (n.*1233A>G)
c.*2757A>G (n.*2757A>G)
c.2507A>G (p.Lys836Arg)
c.524A>G (p.Lys175Arg)
c.583A>G
c.1715A>G (p.Lys572Arg)
c.2843A>G (p.Lys948Arg)
c.3023A>G (p.Lys1008Arg)
c.2690A>G (p.Lys897Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117606698A>TCA368989026CFTRc.2933A>T (p.Lys978Ile)
c.*2647A>T (n.*2647A>T)
c.2750A>T (p.Lys917Ile)
c.*1233A>T (n.*1233A>T)
c.*2757A>T (n.*2757A>T)
c.2507A>T (p.Lys836Ile)
c.524A>T (p.Lys175Ile)
c.583A>T
c.1715A>T (p.Lys572Ile)
c.2843A>T (p.Lys948Ile)
c.3023A>T (p.Lys1008Ile)
c.2690A>T (p.Lys897Ile)
7g.117606699A>CCA368989029CFTRc.2934A>C (p.Lys978Asn)
c.*2648A>C (n.*2648A>C)
c.2751A>C (p.Lys917Asn)
c.*1234A>C (n.*1234A>C)
c.*2758A>C (n.*2758A>C)
c.2508A>C (p.Lys836Asn)
c.525A>C (p.Lys175Asn)
c.584A>C
c.1716A>C (p.Lys572Asn)
c.2844A>C (p.Lys948Asn)
c.3024A>C (p.Lys1008Asn)
c.2691A>C (p.Lys897Asn)
7g.117606699A>GCA457228807CFTRc.2934A>G (p.Lys978=)
c.*2648A>G (n.*2648A>G)
c.2751A>G (p.Lys917=)
c.*1234A>G (n.*1234A>G)
c.*2758A>G (n.*2758A>G)
c.2508A>G (p.Lys836=)
c.525A>G (p.Lys175=)
c.584A>G
c.1716A>G (p.Lys572=)
c.2844A>G (p.Lys948=)
c.3024A>G (p.Lys1008=)
c.2691A>G (p.Lys897=)
 ClinVar dbSNP
7g.117606699A>TCA368989030CFTRc.2934A>T (p.Lys978Asn)
c.*2648A>T (n.*2648A>T)
c.2751A>T (p.Lys917Asn)
c.*1234A>T (n.*1234A>T)
c.*2758A>T (n.*2758A>T)
c.2508A>T (p.Lys836Asn)
c.525A>T (p.Lys175Asn)
c.584A>T
c.1716A>T (p.Lys572Asn)
c.2844A>T (p.Lys948Asn)
c.3024A>T (p.Lys1008Asn)
c.2691A>T (p.Lys897Asn)
7g.117606700G>ACA368989032CFTRc.2935G>A (p.Asp979Asn)
c.*2649G>A (n.*2649G>A)
c.2752G>A (p.Asp918Asn)
c.*1235G>A (n.*1235G>A)
c.*2759G>A (n.*2759G>A)
c.2509G>A (p.Asp837Asn)
c.526G>A (p.Asp176Asn)
c.585G>A
c.1717G>A (p.Asp573Asn)
c.2845G>A (p.Asp949Asn)
c.3025G>A (p.Asp1009Asn)
c.2692G>A (p.Asp898Asn)
 COSMIC
7g.117606700G>CCA368989034CFTRc.2935G>C (p.Asp979His)
c.*2649G>C (n.*2649G>C)
c.2752G>C (p.Asp918His)
c.*1235G>C (n.*1235G>C)
c.*2759G>C (n.*2759G>C)
c.2509G>C (p.Asp837His)
c.526G>C (p.Asp176His)
c.585G>C
c.1717G>C (p.Asp573His)
c.2845G>C (p.Asp949His)
c.3025G>C (p.Asp1009His)
c.2692G>C (p.Asp898His)
7g.117606700G>TCA368989036CFTRc.2935G>T (p.Asp979Tyr)
c.*2649G>T (n.*2649G>T)
c.2752G>T (p.Asp918Tyr)
c.*1235G>T (n.*1235G>T)
c.*2759G>T (n.*2759G>T)
c.2509G>T (p.Asp837Tyr)
c.526G>T (p.Asp176Tyr)
c.585G>T
c.1717G>T (p.Asp573Tyr)
c.2845G>T (p.Asp949Tyr)
c.3025G>T (p.Asp1009Tyr)
c.2692G>T (p.Asp898Tyr)
 ClinVar
7g.117606701A=CA1737379555CFTRc.2936A= (p.Asp979=)
c.*2650A= (n.*2650A=)
c.2753A= (p.Asp918=)
c.*1236A= (n.*1236A=)
c.*2760A= (n.*2760A=)
c.2510A= (p.Asp837=)
c.527A= (p.Asp176=)
c.586A=
c.1718A= (p.Asp573=)
c.2846A= (p.Asp949=)
c.3026A= (p.Asp1009=)
c.2693A= (p.Asp898=)
7g.117606701A>CCA326977CFTRc.2936A>C (p.Asp979Ala)
c.*2650A>C (n.*2650A>C)
c.2753A>C (p.Asp918Ala)
c.*1236A>C (n.*1236A>C)
c.*2760A>C (n.*2760A>C)
c.2510A>C (p.Asp837Ala)
c.527A>C (p.Asp176Ala)
c.586A>C
c.1718A>C (p.Asp573Ala)
c.2846A>C (p.Asp949Ala)
c.3026A>C (p.Asp1009Ala)
c.2693A>C (p.Asp898Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606701A>GCA368989039CFTRc.2936A>G (p.Asp979Gly)
c.*2650A>G (n.*2650A>G)
c.2753A>G (p.Asp918Gly)
c.*1236A>G (n.*1236A>G)
c.*2760A>G (n.*2760A>G)
c.2510A>G (p.Asp837Gly)
c.527A>G (p.Asp176Gly)
c.586A>G
c.1718A>G (p.Asp573Gly)
c.2846A>G (p.Asp949Gly)
c.3026A>G (p.Asp1009Gly)
c.2693A>G (p.Asp898Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117606701A>TCA326979CFTRc.2936A>T (p.Asp979Val)
c.*2650A>T (n.*2650A>T)
c.2753A>T (p.Asp918Val)
c.*1236A>T (n.*1236A>T)
c.*2760A>T (n.*2760A>T)
c.2510A>T (p.Asp837Val)
c.527A>T (p.Asp176Val)
c.586A>T
c.1718A>T (p.Asp573Val)
c.2846A>T (p.Asp949Val)
c.3026A>T (p.Asp1009Val)
c.2693A>T (p.Asp898Val)
 ClinVar dbSNP
7g.117606702T>ACA368989044CFTRc.2937T>A (p.Asp979Glu)
c.*2651T>A (n.*2651T>A)
c.2754T>A (p.Asp918Glu)
c.*1237T>A (n.*1237T>A)
c.*2761T>A (n.*2761T>A)
c.2511T>A (p.Asp837Glu)
c.528T>A (p.Asp176Glu)
c.587T>A
c.1719T>A (p.Asp573Glu)
c.2847T>A (p.Asp949Glu)
c.3027T>A (p.Asp1009Glu)
c.2694T>A (p.Asp898Glu)
7g.117606702T>CCA457228810CFTRc.2937T>C (p.Asp979=)
c.*2651T>C (n.*2651T>C)
c.2754T>C (p.Asp918=)
c.*1237T>C (n.*1237T>C)
c.*2761T>C (n.*2761T>C)
c.2511T>C (p.Asp837=)
c.528T>C (p.Asp176=)
c.587T>C
c.1719T>C (p.Asp573=)
c.2847T>C (p.Asp949=)
c.3027T>C (p.Asp1009=)
c.2694T>C (p.Asp898=)
 ClinVar dbSNP
7g.117606702T>GCA368989045CFTRc.2937T>G (p.Asp979Glu)
c.*2651T>G (n.*2651T>G)
c.2754T>G (p.Asp918Glu)
c.*1237T>G (n.*1237T>G)
c.*2761T>G (n.*2761T>G)
c.2511T>G (p.Asp837Glu)
c.528T>G (p.Asp176Glu)
c.587T>G
c.1719T>G (p.Asp573Glu)
c.2847T>G (p.Asp949Glu)
c.3027T>G (p.Asp1009Glu)
c.2694T>G (p.Asp898Glu)
7g.117606702T=CA1737379567CFTRc.2937T= (p.Asp979=)
c.*2651T= (n.*2651T=)
c.2754T= (p.Asp918=)
c.*1237T= (n.*1237T=)
c.*2761T= (n.*2761T=)
c.2511T= (p.Asp837=)
c.528T= (p.Asp176=)
c.587T=
c.1719T= (p.Asp573=)
c.2847T= (p.Asp949=)
c.3027T= (p.Asp1009=)
c.2694T= (p.Asp898=)
7g.117606703A=CA1737379573CFTRc.2938A= (p.Ile980=)
c.*2652A= (n.*2652A=)
c.2755A= (p.Ile919=)
c.*1238A= (n.*1238A=)
c.*2762A= (n.*2762A=)
c.2512A= (p.Ile838=)
c.529A= (p.Ile177=)
c.588A=
c.1720A= (p.Ile574=)
c.2848A= (p.Ile950=)
c.3028A= (p.Ile1010=)
c.2695A= (p.Ile899=)
7g.117606703A>CCA368989047CFTRc.2938A>C (p.Ile980Leu)
c.*2652A>C (n.*2652A>C)
c.2755A>C (p.Ile919Leu)
c.*1238A>C (n.*1238A>C)
c.*2762A>C (n.*2762A>C)
c.2512A>C (p.Ile838Leu)
c.529A>C (p.Ile177Leu)
c.588A>C
c.1720A>C (p.Ile574Leu)
c.2848A>C (p.Ile950Leu)
c.3028A>C (p.Ile1010Leu)
c.2695A>C (p.Ile899Leu)
7g.117606703A>GCA368989049CFTRc.2938A>G (p.Ile980Val)
c.*2652A>G (n.*2652A>G)
c.2755A>G (p.Ile919Val)
c.*1238A>G (n.*1238A>G)
c.*2762A>G (n.*2762A>G)
c.2512A>G (p.Ile838Val)
c.529A>G (p.Ile177Val)
c.588A>G
c.1720A>G (p.Ile574Val)
c.2848A>G (p.Ile950Val)
c.3028A>G (p.Ile1010Val)
c.2695A>G (p.Ile899Val)
 ClinVar dbSNP gnomAD v4
7g.117606703A>TCA368989051CFTRc.2938A>T (p.Ile980Leu)
c.*2652A>T (n.*2652A>T)
c.2755A>T (p.Ile919Leu)
c.*1238A>T (n.*1238A>T)
c.*2762A>T (n.*2762A>T)
c.2512A>T (p.Ile838Leu)
c.529A>T (p.Ile177Leu)
c.588A>T
c.1720A>T (p.Ile574Leu)
c.2848A>T (p.Ile950Leu)
c.3028A>T (p.Ile1010Leu)
c.2695A>T (p.Ile899Leu)
7g.117606704T>ACA326981CFTRc.2939T>A (p.Ile980Lys)
c.*2653T>A (n.*2653T>A)
c.2756T>A (p.Ile919Lys)
c.*1239T>A (n.*1239T>A)
c.*2763T>A (n.*2763T>A)
c.2513T>A (p.Ile838Lys)
c.530T>A (p.Ile177Lys)
c.589T>A
c.1721T>A (p.Ile574Lys)
c.2849T>A (p.Ile950Lys)
c.3029T>A (p.Ile1010Lys)
c.2696T>A (p.Ile899Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606704T>CCA368989054CFTRc.2939T>C (p.Ile980Thr)
c.*2653T>C (n.*2653T>C)
c.2756T>C (p.Ile919Thr)
c.*1239T>C (n.*1239T>C)
c.*2763T>C (n.*2763T>C)
c.2513T>C (p.Ile838Thr)
c.530T>C (p.Ile177Thr)
c.589T>C
c.1721T>C (p.Ile574Thr)
c.2849T>C (p.Ile950Thr)
c.3029T>C (p.Ile1010Thr)
c.2696T>C (p.Ile899Thr)
 dbSNP gnomAD v4
7g.117606704T>GCA368989056CFTRc.2939T>G (p.Ile980Arg)
c.*2653T>G (n.*2653T>G)
c.2756T>G (p.Ile919Arg)
c.*1239T>G (n.*1239T>G)
c.*2763T>G (n.*2763T>G)
c.2513T>G (p.Ile838Arg)
c.530T>G (p.Ile177Arg)
c.589T>G
c.1721T>G (p.Ile574Arg)
c.2849T>G (p.Ile950Arg)
c.3029T>G (p.Ile1010Arg)
c.2696T>G (p.Ile899Arg)
7g.117606704T=CA1737379580CFTRc.2939T= (p.Ile980=)
c.*2653T= (n.*2653T=)
c.2756T= (p.Ile919=)
c.*1239T= (n.*1239T=)
c.*2763T= (n.*2763T=)
c.2513T= (p.Ile838=)
c.530T= (p.Ile177=)
c.589T=
c.1721T= (p.Ile574=)
c.2849T= (p.Ile950=)
c.3029T= (p.Ile1010=)
c.2696T= (p.Ile899=)
7g.117606705A>CCA457228813CFTRc.2940A>C (p.Ile980=)
c.*2654A>C (n.*2654A>C)
c.2757A>C (p.Ile919=)
c.*1240A>C (n.*1240A>C)
c.*2764A>C (n.*2764A>C)
c.2514A>C (p.Ile838=)
c.531A>C (p.Ile177=)
c.590A>C
c.1722A>C (p.Ile574=)
c.2850A>C (p.Ile950=)
c.3030A>C (p.Ile1010=)
c.2697A>C (p.Ile899=)
7g.117606705A>GCA368989058CFTRc.2940A>G (p.Ile980Met)
c.*2654A>G (n.*2654A>G)
c.2757A>G (p.Ile919Met)
c.*1240A>G (n.*1240A>G)
c.*2764A>G (n.*2764A>G)
c.2514A>G (p.Ile838Met)
c.531A>G (p.Ile177Met)
c.590A>G
c.1722A>G (p.Ile574Met)
c.2850A>G (p.Ile950Met)
c.3030A>G (p.Ile1010Met)
c.2697A>G (p.Ile899Met)
 gnomAD v4
7g.117606705A>TCA457228812CFTRc.2940A>T (p.Ile980=)
c.*2654A>T (n.*2654A>T)
c.2757A>T (p.Ile919=)
c.*1240A>T (n.*1240A>T)
c.*2764A>T (n.*2764A>T)
c.2514A>T (p.Ile838=)
c.531A>T (p.Ile177=)
c.590A>T
c.1722A>T (p.Ile574=)
c.2850A>T (p.Ile950=)
c.3030A>T (p.Ile1010=)
c.2697A>T (p.Ile899=)
7g.117606706G>ACA368989060CFTRc.2941G>A (p.Ala981Thr)
c.*2655G>A (n.*2655G>A)
c.2758G>A (p.Ala920Thr)
c.*1241G>A (n.*1241G>A)
c.*2765G>A (n.*2765G>A)
c.2515G>A (p.Ala839Thr)
c.532G>A (p.Ala178Thr)
c.591G>A
c.1723G>A (p.Ala575Thr)
c.2851G>A (p.Ala951Thr)
c.3031G>A (p.Ala1011Thr)
c.2698G>A (p.Ala900Thr)
 dbSNP gnomAD v4
7g.117606706G>CCA368989064CFTRc.2941G>C (p.Ala981Pro)
c.*2655G>C (n.*2655G>C)
c.2758G>C (p.Ala920Pro)
c.*1241G>C (n.*1241G>C)
c.*2765G>C (n.*2765G>C)
c.2515G>C (p.Ala839Pro)
c.532G>C (p.Ala178Pro)
c.591G>C
c.1723G>C (p.Ala575Pro)
c.2851G>C (p.Ala951Pro)
c.3031G>C (p.Ala1011Pro)
c.2698G>C (p.Ala900Pro)
7g.117606706G>TCA368989066CFTRc.2941G>T (p.Ala981Ser)
c.*2655G>T (n.*2655G>T)
c.2758G>T (p.Ala920Ser)
c.*1241G>T (n.*1241G>T)
c.*2765G>T (n.*2765G>T)
c.2515G>T (p.Ala839Ser)
c.532G>T (p.Ala178Ser)
c.591G>T
c.1723G>T (p.Ala575Ser)
c.2851G>T (p.Ala951Ser)
c.3031G>T (p.Ala1011Ser)
c.2698G>T (p.Ala900Ser)
7g.117606707C>ACA368989072CFTRc.2942C>A (p.Ala981Glu)
c.*2656C>A (n.*2656C>A)
c.2759C>A (p.Ala920Glu)
c.*1242C>A (n.*1242C>A)
c.*2766C>A (n.*2766C>A)
c.2516C>A (p.Ala839Glu)
c.533C>A (p.Ala178Glu)
c.592C>A
c.1724C>A (p.Ala575Glu)
c.2852C>A (p.Ala951Glu)
c.3032C>A (p.Ala1011Glu)
c.2699C>A (p.Ala900Glu)
 ClinVar gnomAD v4
7g.117606707C>GCA368989071CFTRc.2942C>G (p.Ala981Gly)
c.*2656C>G (n.*2656C>G)
c.2759C>G (p.Ala920Gly)
c.*1242C>G (n.*1242C>G)
c.*2766C>G (n.*2766C>G)
c.2516C>G (p.Ala839Gly)
c.533C>G (p.Ala178Gly)
c.592C>G
c.1724C>G (p.Ala575Gly)
c.2852C>G (p.Ala951Gly)
c.3032C>G (p.Ala1011Gly)
c.2699C>G (p.Ala900Gly)
7g.117606707C>TCA368989069CFTRc.2942C>T (p.Ala981Val)
c.*2656C>T (n.*2656C>T)
c.2759C>T (p.Ala920Val)
c.*1242C>T (n.*1242C>T)
c.*2766C>T (n.*2766C>T)
c.2516C>T (p.Ala839Val)
c.533C>T (p.Ala178Val)
c.592C>T
c.1724C>T (p.Ala575Val)
c.2852C>T (p.Ala951Val)
c.3032C>T (p.Ala1011Val)
c.2699C>T (p.Ala900Val)
7g.117606708A=CA1737379585CFTRc.2943A= (p.Ala981=)
c.*2657A= (n.*2657A=)
c.2760A= (p.Ala920=)
c.*1243A= (n.*1243A=)
c.*2767A= (n.*2767A=)
c.2517A= (p.Ala839=)
c.534A= (p.Ala178=)
c.593A=
c.1725A= (p.Ala575=)
c.2853A= (p.Ala951=)
c.3033A= (p.Ala1011=)
c.2700A= (p.Ala900=)
7g.117606708A>CCA457228815CFTRc.2943A>C (p.Ala981=)
c.*2657A>C (n.*2657A>C)
c.2760A>C (p.Ala920=)
c.*1243A>C (n.*1243A>C)
c.*2767A>C (n.*2767A>C)
c.2517A>C (p.Ala839=)
c.534A>C (p.Ala178=)
c.593A>C
c.1725A>C (p.Ala575=)
c.2853A>C (p.Ala951=)
c.3033A>C (p.Ala1011=)
c.2700A>C (p.Ala900=)
7g.117606708A>GCA164962447CFTRc.2943A>G (p.Ala981=)
c.*2657A>G (n.*2657A>G)
c.2760A>G (p.Ala920=)
c.*1243A>G (n.*1243A>G)
c.*2767A>G (n.*2767A>G)
c.2517A>G (p.Ala839=)
c.534A>G (p.Ala178=)
c.593A>G
c.1725A>G (p.Ala575=)
c.2853A>G (p.Ala951=)
c.3033A>G (p.Ala1011=)
c.2700A>G (p.Ala900=)
 dbSNP
7g.117606708A>TCA457228816CFTRc.2943A>T (p.Ala981=)
c.*2657A>T (n.*2657A>T)
c.2760A>T (p.Ala920=)
c.*1243A>T (n.*1243A>T)
c.*2767A>T (n.*2767A>T)
c.2517A>T (p.Ala839=)
c.534A>T (p.Ala178=)
c.593A>T
c.1725A>T (p.Ala575=)
c.2853A>T (p.Ala951=)
c.3033A>T (p.Ala1011=)
c.2700A>T (p.Ala900=)
7g.117606709A=CA1737379588CFTRc.2944A= (p.Ile982=)
c.*2658A= (n.*2658A=)
c.2761A= (p.Ile921=)
c.*1244A= (n.*1244A=)
c.*2768A= (n.*2768A=)
c.2518A= (p.Ile840=)
c.535A= (p.Ile179=)
c.594A=
c.1726A= (p.Ile576=)
c.2854A= (p.Ile952=)
c.3034A= (p.Ile1012=)
c.2701A= (p.Ile901=)
7g.117606709A>CCA368989076CFTRc.2944A>C (p.Ile982Leu)
c.*2658A>C (n.*2658A>C)
c.2761A>C (p.Ile921Leu)
c.*1244A>C (n.*1244A>C)
c.*2768A>C (n.*2768A>C)
c.2518A>C (p.Ile840Leu)
c.535A>C (p.Ile179Leu)
c.594A>C
c.1726A>C (p.Ile576Leu)
c.2854A>C (p.Ile952Leu)
c.3034A>C (p.Ile1012Leu)
c.2701A>C (p.Ile901Leu)
7g.117606709A>GCA368989079CFTRc.2944A>G (p.Ile982Val)
c.*2658A>G (n.*2658A>G)
c.2761A>G (p.Ile921Val)
c.*1244A>G (n.*1244A>G)
c.*2768A>G (n.*2768A>G)
c.2518A>G (p.Ile840Val)
c.535A>G (p.Ile179Val)
c.594A>G
c.1726A>G (p.Ile576Val)
c.2854A>G (p.Ile952Val)
c.3034A>G (p.Ile1012Val)
c.2701A>G (p.Ile901Val)
 dbSNP gnomAD v2 gnomAD v4
7g.117606709A>TCA368989080CFTRc.2944A>T (p.Ile982Phe)
c.*2658A>T (n.*2658A>T)
c.2761A>T (p.Ile921Phe)
c.*1244A>T (n.*1244A>T)
c.*2768A>T (n.*2768A>T)
c.2518A>T (p.Ile840Phe)
c.535A>T (p.Ile179Phe)
c.594A>T
c.1726A>T (p.Ile576Phe)
c.2854A>T (p.Ile952Phe)
c.3034A>T (p.Ile1012Phe)
c.2701A>T (p.Ile901Phe)
7g.117606710T>ACA368989082CFTRc.2945T>A (p.Ile982Asn)
c.*2659T>A (n.*2659T>A)
c.2762T>A (p.Ile921Asn)
c.*1245T>A (n.*1245T>A)
c.*2769T>A (n.*2769T>A)
c.2519T>A (p.Ile840Asn)
c.536T>A (p.Ile179Asn)
c.595T>A
c.1727T>A (p.Ile576Asn)
c.2855T>A (p.Ile952Asn)
c.3035T>A (p.Ile1012Asn)
c.2702T>A (p.Ile901Asn)
7g.117606710T>CCA368989084CFTRc.2945T>C (p.Ile982Thr)
c.*2659T>C (n.*2659T>C)
c.2762T>C (p.Ile921Thr)
c.*1245T>C (n.*1245T>C)
c.*2769T>C (n.*2769T>C)
c.2519T>C (p.Ile840Thr)
c.536T>C (p.Ile179Thr)
c.595T>C
c.1727T>C (p.Ile576Thr)
c.2855T>C (p.Ile952Thr)
c.3035T>C (p.Ile1012Thr)
c.2702T>C (p.Ile901Thr)
7g.117606710T>GCA368989085CFTRc.2945T>G (p.Ile982Ser)
c.*2659T>G (n.*2659T>G)
c.2762T>G (p.Ile921Ser)
c.*1245T>G (n.*1245T>G)
c.*2769T>G (n.*2769T>G)
c.2519T>G (p.Ile840Ser)
c.536T>G (p.Ile179Ser)
c.595T>G
c.1727T>G (p.Ile576Ser)
c.2855T>G (p.Ile952Ser)
c.3035T>G (p.Ile1012Ser)
c.2702T>G (p.Ile901Ser)
7g.117606713delCA2580076406CFTRc.2948del (p.Leu983TrpfsTer17)
c.*2662del (n.*2662del)
c.2765del (p.Leu922TrpfsTer17)
c.*1248del (n.*1248del)
c.*2772del (n.*2772del)
c.2522del (p.Leu841TrpfsTer17)
c.539del (p.Leu180TrpfsTer17)
c.598del
c.1730del (p.Leu577TrpfsTer17)
c.2858del (p.Leu953TrpfsTer17)
c.3038del (p.Leu1013TrpfsTer17)
c.2705del (p.Leu902TrpfsTer17)
 ClinVar gnomAD v4
7g.117606712_117606713delCA2695208425CFTRc.2947_2948del (p.Leu983GlyfsTer2)
c.*2661_*2662del (n.*2661_*2662del)
c.2764_2765del (p.Leu922GlyfsTer2)
c.*1247_*1248del (n.*1247_*1248del)
c.*2771_*2772del (n.*2771_*2772del)
c.2521_2522del (p.Leu841GlyfsTer2)
c.538_539del (p.Leu180GlyfsTer2)
c.597_598del
c.1729_1730del (p.Leu577GlyfsTer2)
c.2857_2858del (p.Leu953GlyfsTer2)
c.3037_3038del (p.Leu1013GlyfsTer2)
c.2704_2705del (p.Leu902GlyfsTer2)
7g.117606711T>ACA457228820CFTRc.2946T>A (p.Ile982=)
c.*2660T>A (n.*2660T>A)
c.2763T>A (p.Ile921=)
c.*1246T>A (n.*1246T>A)
c.*2770T>A (n.*2770T>A)
c.2520T>A (p.Ile840=)
c.537T>A (p.Ile179=)
c.596T>A
c.1728T>A (p.Ile576=)
c.2856T>A (p.Ile952=)
c.3036T>A (p.Ile1012=)
c.2703T>A (p.Ile901=)
7g.117606711T>CCA457228821CFTRc.2946T>C (p.Ile982=)
c.*2660T>C (n.*2660T>C)
c.2763T>C (p.Ile921=)
c.*1246T>C (n.*1246T>C)
c.*2770T>C (n.*2770T>C)
c.2520T>C (p.Ile840=)
c.537T>C (p.Ile179=)
c.596T>C
c.1728T>C (p.Ile576=)
c.2856T>C (p.Ile952=)
c.3036T>C (p.Ile1012=)
c.2703T>C (p.Ile901=)
7g.117606711T>GCA164962463CFTRc.2946T>G (p.Ile982Met)
c.*2660T>G (n.*2660T>G)
c.2763T>G (p.Ile921Met)
c.*1246T>G (n.*1246T>G)
c.*2770T>G (n.*2770T>G)
c.2520T>G (p.Ile840Met)
c.537T>G (p.Ile179Met)
c.596T>G
c.1728T>G (p.Ile576Met)
c.2856T>G (p.Ile952Met)
c.3036T>G (p.Ile1012Met)
c.2703T>G (p.Ile901Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117606711T=CA1737379595CFTRc.2946T= (p.Ile982=)
c.*2660T= (n.*2660T=)
c.2763T= (p.Ile921=)
c.*1246T= (n.*1246T=)
c.*2770T= (n.*2770T=)
c.2520T= (p.Ile840=)
c.537T= (p.Ile179=)
c.596T=
c.1728T= (p.Ile576=)
c.2856T= (p.Ile952=)
c.3036T= (p.Ile1012=)
c.2703T= (p.Ile901=)
7g.117606712T>ACA368989088CFTRc.2947T>A (p.Leu983Met)
c.*2661T>A (n.*2661T>A)
c.2764T>A (p.Leu922Met)
c.*1247T>A (n.*1247T>A)
c.*2771T>A (n.*2771T>A)
c.2521T>A (p.Leu841Met)
c.538T>A (p.Leu180Met)
c.597T>A
c.1729T>A (p.Leu577Met)
c.2857T>A (p.Leu953Met)
c.3037T>A (p.Leu1013Met)
c.2704T>A (p.Leu902Met)
7g.117606712T>CCA457228822CFTRc.2947T>C (p.Leu983=)
c.*2661T>C (n.*2661T>C)
c.2764T>C (p.Leu922=)
c.*1247T>C (n.*1247T>C)
c.*2771T>C (n.*2771T>C)
c.2521T>C (p.Leu841=)
c.538T>C (p.Leu180=)
c.597T>C
c.1729T>C (p.Leu577=)
c.2857T>C (p.Leu953=)
c.3037T>C (p.Leu1013=)
c.2704T>C (p.Leu902=)
7g.117606712T>GCA368989089CFTRc.2947T>G (p.Leu983Val)
c.*2661T>G (n.*2661T>G)
c.2764T>G (p.Leu922Val)
c.*1247T>G (n.*1247T>G)
c.*2771T>G (n.*2771T>G)
c.2521T>G (p.Leu841Val)
c.538T>G (p.Leu180Val)
c.597T>G
c.1729T>G (p.Leu577Val)
c.2857T>G (p.Leu953Val)
c.3037T>G (p.Leu1013Val)
c.2704T>G (p.Leu902Val)
7g.117606713T>ACA368989091CFTRc.2948T>A (p.Leu983Ter)
c.*2662T>A (n.*2662T>A)
c.2765T>A (p.Leu922Ter)
c.*1248T>A (n.*1248T>A)
c.*2772T>A (n.*2772T>A)
c.2522T>A (p.Leu841Ter)
c.539T>A (p.Leu180Ter)
c.598T>A
c.1730T>A (p.Leu577Ter)
c.2858T>A (p.Leu953Ter)
c.3038T>A (p.Leu1013Ter)
c.2705T>A (p.Leu902Ter)
7g.117606713T>CCA368989093CFTRc.2948T>C (p.Leu983Ser)
c.*2662T>C (n.*2662T>C)
c.2765T>C (p.Leu922Ser)
c.*1248T>C (n.*1248T>C)
c.*2772T>C (n.*2772T>C)
c.2522T>C (p.Leu841Ser)
c.539T>C (p.Leu180Ser)
c.598T>C
c.1730T>C (p.Leu577Ser)
c.2858T>C (p.Leu953Ser)
c.3038T>C (p.Leu1013Ser)
c.2705T>C (p.Leu902Ser)
7g.117606713T>GCA368989095CFTRc.2948T>G (p.Leu983Trp)
c.*2662T>G (n.*2662T>G)
c.2765T>G (p.Leu922Trp)
c.*1248T>G (n.*1248T>G)
c.*2772T>G (n.*2772T>G)
c.2522T>G (p.Leu841Trp)
c.539T>G (p.Leu180Trp)
c.598T>G
c.1730T>G (p.Leu577Trp)
c.2858T>G (p.Leu953Trp)
c.3038T>G (p.Leu1013Trp)
c.2705T>G (p.Leu902Trp)
 gnomAD v4
7g.117606714G>ACA457228823CFTRc.2949G>A (p.Leu983=)
c.*2663G>A (n.*2663G>A)
c.2766G>A (p.Leu922=)
c.*1249G>A (n.*1249G>A)
c.*2773G>A (n.*2773G>A)
c.2523G>A (p.Leu841=)
c.540G>A (p.Leu180=)
c.599G>A
c.1731G>A (p.Leu577=)
c.2859G>A (p.Leu953=)
c.3039G>A (p.Leu1013=)
c.2706G>A (p.Leu902=)
7g.117606714G>CCA368989099CFTRc.2949G>C (p.Leu983Phe)
c.*2663G>C (n.*2663G>C)
c.2766G>C (p.Leu922Phe)
c.*1249G>C (n.*1249G>C)
c.*2773G>C (n.*2773G>C)
c.2523G>C (p.Leu841Phe)
c.540G>C (p.Leu180Phe)
c.599G>C
c.1731G>C (p.Leu577Phe)
c.2859G>C (p.Leu953Phe)
c.3039G>C (p.Leu1013Phe)
c.2706G>C (p.Leu902Phe)
7g.117606714G=CA1737379605CFTRc.2949G= (p.Leu983=)
c.*2663G= (n.*2663G=)
c.2766G= (p.Leu922=)
c.*1249G= (n.*1249G=)
c.*2773G= (n.*2773G=)
c.2523G= (p.Leu841=)
c.540G= (p.Leu180=)
c.599G=
c.1731G= (p.Leu577=)
c.2859G= (p.Leu953=)
c.3039G= (p.Leu1013=)
c.2706G= (p.Leu902=)
7g.117606714G>TCA164962466CFTRc.2949G>T (p.Leu983Phe)
c.*2663G>T (n.*2663G>T)
c.2766G>T (p.Leu922Phe)
c.*1249G>T (n.*1249G>T)
c.*2773G>T (n.*2773G>T)
c.2523G>T (p.Leu841Phe)
c.540G>T (p.Leu180Phe)
c.599G>T
c.1731G>T (p.Leu577Phe)
c.2859G>T (p.Leu953Phe)
c.3039G>T (p.Leu1013Phe)
c.2706G>T (p.Leu902Phe)
 dbSNP gnomAD v4
7g.117606715G>ACA4451333CFTRc.2950G>A (p.Asp984Asn)
c.*2664G>A (n.*2664G>A)
c.2767G>A (p.Asp923Asn)
c.*1250G>A (n.*1250G>A)
c.*2774G>A (n.*2774G>A)
c.2524G>A (p.Asp842Asn)
c.541G>A (p.Asp181Asn)
c.600G>A
c.1732G>A (p.Asp578Asn)
c.2860G>A (p.Asp954Asn)
c.3040G>A (p.Asp1014Asn)
c.2707G>A (p.Asp903Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117606715G>CCA368989102CFTRc.2950G>C (p.Asp984His)
c.*2664G>C (n.*2664G>C)
c.2767G>C (p.Asp923His)
c.*1250G>C (n.*1250G>C)
c.*2774G>C (n.*2774G>C)
c.2524G>C (p.Asp842His)
c.541G>C (p.Asp181His)
c.600G>C
c.1732G>C (p.Asp578His)
c.2860G>C (p.Asp954His)
c.3040G>C (p.Asp1014His)
c.2707G>C (p.Asp903His)
 dbSNP
7g.117606715G=CA1737379609CFTRc.2950G= (p.Asp984=)
c.*2664G= (n.*2664G=)
c.2767G= (p.Asp923=)
c.*1250G= (n.*1250G=)
c.*2774G= (n.*2774G=)
c.2524G= (p.Asp842=)
c.541G= (p.Asp181=)
c.600G=
c.1732G= (p.Asp578=)
c.2860G= (p.Asp954=)
c.3040G= (p.Asp1014=)
c.2707G= (p.Asp903=)
7g.117606715G>TCA368989103CFTRc.2950G>T (p.Asp984Tyr)
c.*2664G>T (n.*2664G>T)
c.2767G>T (p.Asp923Tyr)
c.*1250G>T (n.*1250G>T)
c.*2774G>T (n.*2774G>T)
c.2524G>T (p.Asp842Tyr)
c.541G>T (p.Asp181Tyr)
c.600G>T
c.1732G>T (p.Asp578Tyr)
c.2860G>T (p.Asp954Tyr)
c.3040G>T (p.Asp1014Tyr)
c.2707G>T (p.Asp903Tyr)
 gnomAD v4
7g.117606716A=CA1737379614CFTRc.2951A= (p.Asp984=)
c.*2665A= (n.*2665A=)
c.2768A= (p.Asp923=)
c.*1251A= (n.*1251A=)
c.*2775A= (n.*2775A=)
c.2525A= (p.Asp842=)
c.542A= (p.Asp181=)
c.601A=
c.1733A= (p.Asp578=)
c.2861A= (p.Asp954=)
c.3041A= (p.Asp1014=)
c.2708A= (p.Asp903=)
7g.117606716A>CCA368989106CFTRc.2951A>C (p.Asp984Ala)
c.*2665A>C (n.*2665A>C)
c.2768A>C (p.Asp923Ala)
c.*1251A>C (n.*1251A>C)
c.*2775A>C (n.*2775A>C)
c.2525A>C (p.Asp842Ala)
c.542A>C (p.Asp181Ala)
c.601A>C
c.1733A>C (p.Asp578Ala)
c.2861A>C (p.Asp954Ala)
c.3041A>C (p.Asp1014Ala)
c.2708A>C (p.Asp903Ala)
7g.117606716A>GCA368989108CFTRc.2951A>G (p.Asp984Gly)
c.*2665A>G (n.*2665A>G)
c.2768A>G (p.Asp923Gly)
c.*1251A>G (n.*1251A>G)
c.*2775A>G (n.*2775A>G)
c.2525A>G (p.Asp842Gly)
c.542A>G (p.Asp181Gly)
c.601A>G
c.1733A>G (p.Asp578Gly)
c.2861A>G (p.Asp954Gly)
c.3041A>G (p.Asp1014Gly)
c.2708A>G (p.Asp903Gly)
 dbSNP gnomAD v3 gnomAD v4
7g.117606716A>TCA368989109CFTRc.2951A>T (p.Asp984Val)
c.*2665A>T (n.*2665A>T)
c.2768A>T (p.Asp923Val)
c.*1251A>T (n.*1251A>T)
c.*2775A>T (n.*2775A>T)
c.2525A>T (p.Asp842Val)
c.542A>T (p.Asp181Val)
c.601A>T
c.1733A>T (p.Asp578Val)
c.2861A>T (p.Asp954Val)
c.3041A>T (p.Asp1014Val)
c.2708A>T (p.Asp903Val)
 ClinVar gnomAD v4
7g.117606717T>ACA368989111CFTRc.2952T>A (p.Asp984Glu)
c.*2666T>A (n.*2666T>A)
c.2769T>A (p.Asp923Glu)
c.*1252T>A (n.*1252T>A)
c.*2776T>A (n.*2776T>A)
c.2526T>A (p.Asp842Glu)
c.543T>A (p.Asp181Glu)
c.602T>A
c.1734T>A (p.Asp578Glu)
c.2862T>A (p.Asp954Glu)
c.3042T>A (p.Asp1014Glu)
c.2709T>A (p.Asp903Glu)
7g.117606717T>CCA457228826CFTRc.2952T>C (p.Asp984=)
c.*2666T>C (n.*2666T>C)
c.2769T>C (p.Asp923=)
c.*1252T>C (n.*1252T>C)
c.*2776T>C (n.*2776T>C)
c.2526T>C (p.Asp842=)
c.543T>C (p.Asp181=)
c.602T>C
c.1734T>C (p.Asp578=)
c.2862T>C (p.Asp954=)
c.3042T>C (p.Asp1014=)
c.2709T>C (p.Asp903=)
 gnomAD v4
7g.117606717T>GCA368989113CFTRc.2952T>G (p.Asp984Glu)
c.*2666T>G (n.*2666T>G)
c.2769T>G (p.Asp923Glu)
c.*1252T>G (n.*1252T>G)
c.*2776T>G (n.*2776T>G)
c.2526T>G (p.Asp842Glu)
c.543T>G (p.Asp181Glu)
c.602T>G
c.1734T>G (p.Asp578Glu)
c.2862T>G (p.Asp954Glu)
c.3042T>G (p.Asp1014Glu)
c.2709T>G (p.Asp903Glu)
7g.117606718G>ACA4451334CFTRc.2953G>A (p.Asp985Asn)
c.*2667G>A (n.*2667G>A)
c.2770G>A (p.Asp924Asn)
c.*1253G>A (n.*1253G>A)
c.*2777G>A (n.*2777G>A)
c.2527G>A (p.Asp843Asn)
c.544G>A (p.Asp182Asn)
c.603G>A
c.1735G>A (p.Asp579Asn)
c.2863G>A (p.Asp955Asn)
c.3043G>A (p.Asp1015Asn)
c.2710G>A (p.Asp904Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117606718G>CCA326986CFTRc.2953G>C (p.Asp985His)
c.*2667G>C (n.*2667G>C)
c.2770G>C (p.Asp924His)
c.*1253G>C (n.*1253G>C)
c.*2777G>C (n.*2777G>C)
c.2527G>C (p.Asp843His)
c.544G>C (p.Asp182His)
c.603G>C
c.1735G>C (p.Asp579His)
c.2863G>C (p.Asp955His)
c.3043G>C (p.Asp1015His)
c.2710G>C (p.Asp904His)
 dbSNP
7g.117606718G=CA1737379625CFTRc.2953G= (p.Asp985=)
c.*2667G= (n.*2667G=)
c.2770G= (p.Asp924=)
c.*1253G= (n.*1253G=)
c.*2777G= (n.*2777G=)
c.2527G= (p.Asp843=)
c.544G= (p.Asp182=)
c.603G=
c.1735G= (p.Asp579=)
c.2863G= (p.Asp955=)
c.3043G= (p.Asp1015=)
c.2710G= (p.Asp904=)
7g.117606718G>TCA326988CFTRc.2953G>T (p.Asp985Tyr)
c.*2667G>T (n.*2667G>T)
c.2770G>T (p.Asp924Tyr)
c.*1253G>T (n.*1253G>T)
c.*2777G>T (n.*2777G>T)
c.2527G>T (p.Asp843Tyr)
c.544G>T (p.Asp182Tyr)
c.603G>T
c.1735G>T (p.Asp579Tyr)
c.2863G>T (p.Asp955Tyr)
c.3043G>T (p.Asp1015Tyr)
c.2710G>T (p.Asp904Tyr)
 dbSNP gnomAD v4
7g.117606719delCA2695208426CFTRc.2954del (p.Asp985AlafsTer15)
c.*2668del (n.*2668del)
c.2771del (p.Asp924AlafsTer15)
c.*1254del (n.*1254del)
c.*2778del (n.*2778del)
c.2528del (p.Asp843AlafsTer15)
c.545del (p.Asp182AlafsTer15)
c.604del
c.1736del (p.Asp579AlafsTer15)
c.2864del (p.Asp955AlafsTer15)
c.3044del (p.Asp1015AlafsTer15)
c.2711del (p.Asp904AlafsTer15)
7g.117606719A>CCA368989117CFTRc.2954A>C (p.Asp985Ala)
c.*2668A>C (n.*2668A>C)
c.2771A>C (p.Asp924Ala)
c.*1254A>C (n.*1254A>C)
c.*2778A>C (n.*2778A>C)
c.2528A>C (p.Asp843Ala)
c.545A>C (p.Asp182Ala)
c.604A>C
c.1736A>C (p.Asp579Ala)
c.2864A>C (p.Asp955Ala)
c.3044A>C (p.Asp1015Ala)
c.2711A>C (p.Asp904Ala)
7g.117606719A>GCA368989119CFTRc.2954A>G (p.Asp985Gly)
c.*2668A>G (n.*2668A>G)
c.2771A>G (p.Asp924Gly)
c.*1254A>G (n.*1254A>G)
c.*2778A>G (n.*2778A>G)
c.2528A>G (p.Asp843Gly)
c.545A>G (p.Asp182Gly)
c.604A>G
c.1736A>G (p.Asp579Gly)
c.2864A>G (p.Asp955Gly)
c.3044A>G (p.Asp1015Gly)
c.2711A>G (p.Asp904Gly)
 gnomAD v4
7g.117606719A>TCA368989121CFTRc.2954A>T (p.Asp985Val)
c.*2668A>T (n.*2668A>T)
c.2771A>T (p.Asp924Val)
c.*1254A>T (n.*1254A>T)
c.*2778A>T (n.*2778A>T)
c.2528A>T (p.Asp843Val)
c.545A>T (p.Asp182Val)
c.604A>T
c.1736A>T (p.Asp579Val)
c.2864A>T (p.Asp955Val)
c.3044A>T (p.Asp1015Val)
c.2711A>T (p.Asp904Val)
7g.117606720C>ACA4451335CFTRc.2955C>A (p.Asp985Glu)
c.*2669C>A (n.*2669C>A)
c.2772C>A (p.Asp924Glu)
c.*1255C>A (n.*1255C>A)
c.*2779C>A (n.*2779C>A)
c.2529C>A (p.Asp843Glu)
c.546C>A (p.Asp182Glu)
c.605C>A
c.1737C>A (p.Asp579Glu)
c.2865C>A (p.Asp955Glu)
c.3045C>A (p.Asp1015Glu)
c.2712C>A (p.Asp904Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117606720C=CA1737379636CFTRc.2955C= (p.Asp985=)
c.*2669C= (n.*2669C=)
c.2772C= (p.Asp924=)
c.*1255C= (n.*1255C=)
c.*2779C= (n.*2779C=)
c.2529C= (p.Asp843=)
c.546C= (p.Asp182=)
c.605C=
c.1737C= (p.Asp579=)
c.2865C= (p.Asp955=)
c.3045C= (p.Asp1015=)
c.2712C= (p.Asp904=)
7g.117606720C>GCA368989123CFTRc.2955C>G (p.Asp985Glu)
c.*2669C>G (n.*2669C>G)
c.2772C>G (p.Asp924Glu)
c.*1255C>G (n.*1255C>G)
c.*2779C>G (n.*2779C>G)
c.2529C>G (p.Asp843Glu)
c.546C>G (p.Asp182Glu)
c.605C>G
c.1737C>G (p.Asp579Glu)
c.2865C>G (p.Asp955Glu)
c.3045C>G (p.Asp1015Glu)
c.2712C>G (p.Asp904Glu)
7g.117606720C>TCA457228828CFTRc.2955C>T (p.Asp985=)
c.*2669C>T (n.*2669C>T)
c.2772C>T (p.Asp924=)
c.*1255C>T (n.*1255C>T)
c.*2779C>T (n.*2779C>T)
c.2529C>T (p.Asp843=)
c.546C>T (p.Asp182=)
c.605C>T
c.1737C>T (p.Asp579=)
c.2865C>T (p.Asp955=)
c.3045C>T (p.Asp1015=)
c.2712C>T (p.Asp904=)
 ClinVar COSMIC
7g.117606721delCA2573141581CFTRc.2956del (p.Leu986PhefsTer14)
c.*2670del (n.*2670del)
c.2773del (p.Leu925PhefsTer14)
c.*1256del (n.*1256del)
c.*2780del (n.*2780del)
c.2530del (p.Leu844PhefsTer14)
c.547del (p.Leu183PhefsTer14)
c.606del
c.1738del (p.Leu580PhefsTer14)
c.2866del (p.Leu956PhefsTer14)
c.3046del (p.Leu1016PhefsTer14)
c.2713del (p.Leu905PhefsTer14)
 ClinVar dbSNP
7g.117606723_117606729delCA2695208427CFTRc.2958_2964del (p.Leu989TyrfsTer9)
c.*2672_*2678del (n.*2672_*2678del)
c.2775_2781del (p.Leu928TyrfsTer9)
c.*1258_*1264del (n.*1258_*1264del)
c.*2782_*2788del (n.*2782_*2788del)
c.2532_2538del (p.Leu847TyrfsTer9)
c.549_555del (p.Leu186TyrfsTer9)
c.608_614del
c.1740_1746del (p.Leu583TyrfsTer9)
c.2868_2874del (p.Leu959TyrfsTer9)
c.3048_3054del (p.Leu1019TyrfsTer9)
c.2715_2721del (p.Leu908TyrfsTer9)
7g.117606721C>ACA368989126CFTRc.2956C>A (p.Leu986Ile)
c.*2670C>A (n.*2670C>A)
c.2773C>A (p.Leu925Ile)
c.*1256C>A (n.*1256C>A)
c.*2780C>A (n.*2780C>A)
c.2530C>A (p.Leu844Ile)
c.547C>A (p.Leu183Ile)
c.606C>A
c.1738C>A (p.Leu580Ile)
c.2866C>A (p.Leu956Ile)
c.3046C>A (p.Leu1016Ile)
c.2713C>A (p.Leu905Ile)
 gnomAD v4
7g.117606721C>GCA368989130CFTRc.2956C>G (p.Leu986Val)
c.*2670C>G (n.*2670C>G)
c.2773C>G (p.Leu925Val)
c.*1256C>G (n.*1256C>G)
c.*2780C>G (n.*2780C>G)
c.2530C>G (p.Leu844Val)
c.547C>G (p.Leu183Val)
c.606C>G
c.1738C>G (p.Leu580Val)
c.2866C>G (p.Leu956Val)
c.3046C>G (p.Leu1016Val)
c.2713C>G (p.Leu905Val)
7g.117606721C>TCA368989127CFTRc.2956C>T (p.Leu986Phe)
c.*2670C>T (n.*2670C>T)
c.2773C>T (p.Leu925Phe)
c.*1256C>T (n.*1256C>T)
c.*2780C>T (n.*2780C>T)
c.2530C>T (p.Leu844Phe)
c.547C>T (p.Leu183Phe)
c.606C>T
c.1738C>T (p.Leu580Phe)
c.2866C>T (p.Leu956Phe)
c.3046C>T (p.Leu1016Phe)
c.2713C>T (p.Leu905Phe)
7g.117606722T>ACA368989132CFTRc.2957T>A (p.Leu986His)
c.*2671T>A (n.*2671T>A)
c.2774T>A (p.Leu925His)
c.*1257T>A (n.*1257T>A)
c.*2781T>A (n.*2781T>A)
c.2531T>A (p.Leu844His)
c.548T>A (p.Leu183His)
c.607T>A
c.1739T>A (p.Leu580His)
c.2867T>A (p.Leu956His)
c.3047T>A (p.Leu1016His)
c.2714T>A (p.Leu905His)
7g.117606722T>CCA4451336CFTRc.2957T>C (p.Leu986Pro)
c.*2671T>C (n.*2671T>C)
c.2774T>C (p.Leu925Pro)
c.*1257T>C (n.*1257T>C)
c.*2781T>C (n.*2781T>C)
c.2531T>C (p.Leu844Pro)
c.548T>C (p.Leu183Pro)
c.607T>C
c.1739T>C (p.Leu580Pro)
c.2867T>C (p.Leu956Pro)
c.3047T>C (p.Leu1016Pro)
c.2714T>C (p.Leu905Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606722T>GCA368989134CFTRc.2957T>G (p.Leu986Arg)
c.*2671T>G (n.*2671T>G)
c.2774T>G (p.Leu925Arg)
c.*1257T>G (n.*1257T>G)
c.*2781T>G (n.*2781T>G)
c.2531T>G (p.Leu844Arg)
c.548T>G (p.Leu183Arg)
c.607T>G
c.1739T>G (p.Leu580Arg)
c.2867T>G (p.Leu956Arg)
c.3047T>G (p.Leu1016Arg)
c.2714T>G (p.Leu905Arg)
7g.117606722T=CA1737379641CFTRc.2957T= (p.Leu986=)
c.*2671T= (n.*2671T=)
c.2774T= (p.Leu925=)
c.*1257T= (n.*1257T=)
c.*2781T= (n.*2781T=)
c.2531T= (p.Leu844=)
c.548T= (p.Leu183=)
c.607T=
c.1739T= (p.Leu580=)
c.2867T= (p.Leu956=)
c.3047T= (p.Leu1016=)
c.2714T= (p.Leu905=)
7g.117606723delCA2697557583CFTRc.2958del (p.Leu987CysfsTer13)
c.*2672del (n.*2672del)
c.2775del (p.Leu926CysfsTer13)
c.*1258del (n.*1258del)
c.*2782del (n.*2782del)
c.2532del (p.Leu845CysfsTer13)
c.549del (p.Leu184CysfsTer13)
c.608del
c.1740del (p.Leu581CysfsTer13)
c.2868del (p.Leu957CysfsTer13)
c.3048del (p.Leu1017CysfsTer13)
c.2715del (p.Leu906CysfsTer13)
 ClinVar
7g.117606723T>ACA457228833CFTRc.2958T>A (p.Leu986=)
c.*2672T>A (n.*2672T>A)
c.2775T>A (p.Leu925=)
c.*1258T>A (n.*1258T>A)
c.*2782T>A (n.*2782T>A)
c.2532T>A (p.Leu844=)
c.549T>A (p.Leu183=)
c.608T>A
c.1740T>A (p.Leu580=)
c.2868T>A (p.Leu956=)
c.3048T>A (p.Leu1016=)
c.2715T>A (p.Leu905=)
7g.117606723T>CCA457228832CFTRc.2958T>C (p.Leu986=)
c.*2672T>C (n.*2672T>C)
c.2775T>C (p.Leu925=)
c.*1258T>C (n.*1258T>C)
c.*2782T>C (n.*2782T>C)
c.2532T>C (p.Leu844=)
c.549T>C (p.Leu183=)
c.608T>C
c.1740T>C (p.Leu580=)
c.2868T>C (p.Leu956=)
c.3048T>C (p.Leu1016=)
c.2715T>C (p.Leu905=)
7g.117606723T>GCA457228831CFTRc.2958T>G (p.Leu986=)
c.*2672T>G (n.*2672T>G)
c.2775T>G (p.Leu925=)
c.*1258T>G (n.*1258T>G)
c.*2782T>G (n.*2782T>G)
c.2532T>G (p.Leu844=)
c.549T>G (p.Leu183=)
c.608T>G
c.1740T>G (p.Leu580=)
c.2868T>G (p.Leu956=)
c.3048T>G (p.Leu1016=)
c.2715T>G (p.Leu905=)
7g.117606724_117606725dupCA2573141584CFTRc.2959_2960dup (p.Pro988CysfsTer13)
c.*2673_*2674dup (n.*2673_*2674dup)
c.2776_2777dup (p.Pro927CysfsTer13)
c.*1259_*1260dup (n.*1259_*1260dup)
c.*2783_*2784dup (n.*2783_*2784dup)
c.2533_2534dup (p.Pro846CysfsTer13)
c.550_551dup (p.Pro185CysfsTer13)
c.609_610dup
c.1741_1742dup (p.Pro582CysfsTer13)
c.2869_2870dup (p.Pro958CysfsTer13)
c.3049_3050dup (p.Pro1018CysfsTer13)
c.2716_2717dup (p.Pro907CysfsTer13)
 ClinVar dbSNP
7g.117606723_117606726delCA2695208428CFTRc.2958_2961del (p.Pro988LeufsTer11)
c.*2672_*2675del (n.*2672_*2675del)
c.2775_2778del (p.Pro927LeufsTer11)
c.*1258_*1261del (n.*1258_*1261del)
c.*2782_*2785del (n.*2782_*2785del)
c.2532_2535del (p.Pro846LeufsTer11)
c.549_552del (p.Pro185LeufsTer11)
c.608_611del
c.1740_1743del (p.Pro582LeufsTer11)
c.2868_2871del (p.Pro958LeufsTer11)
c.3048_3051del (p.Pro1018LeufsTer11)
c.2715_2718del (p.Pro907LeufsTer11)
7g.117606724C>ACA368989137CFTRc.2959C>A (p.Leu987Met)
c.*2673C>A (n.*2673C>A)
c.2776C>A (p.Leu926Met)
c.*1259C>A (n.*1259C>A)
c.*2783C>A (n.*2783C>A)
c.2533C>A (p.Leu845Met)
c.550C>A (p.Leu184Met)
c.609C>A
c.1741C>A (p.Leu581Met)
c.2869C>A (p.Leu957Met)
c.3049C>A (p.Leu1017Met)
c.2716C>A (p.Leu906Met)
 gnomAD v4
7g.117606724C=CA1737379649CFTRc.2959C= (p.Leu987=)
c.*2673C= (n.*2673C=)
c.2776C= (p.Leu926=)
c.*1259C= (n.*1259C=)
c.*2783C= (n.*2783C=)
c.2533C= (p.Leu845=)
c.550C= (p.Leu184=)
c.609C=
c.1741C= (p.Leu581=)
c.2869C= (p.Leu957=)
c.3049C= (p.Leu1017=)
c.2716C= (p.Leu906=)
7g.117606724C>GCA368989138CFTRc.2959C>G (p.Leu987Val)
c.*2673C>G (n.*2673C>G)
c.2776C>G (p.Leu926Val)
c.*1259C>G (n.*1259C>G)
c.*2783C>G (n.*2783C>G)
c.2533C>G (p.Leu845Val)
c.550C>G (p.Leu184Val)
c.609C>G
c.1741C>G (p.Leu581Val)
c.2869C>G (p.Leu957Val)
c.3049C>G (p.Leu1017Val)
c.2716C>G (p.Leu906Val)
 dbSNP gnomAD v3 gnomAD v4
7g.117606724C>TCA457228836CFTRc.2959C>T (p.Leu987=)
c.*2673C>T (n.*2673C>T)
c.2776C>T (p.Leu926=)
c.*1259C>T (n.*1259C>T)
c.*2783C>T (n.*2783C>T)
c.2533C>T (p.Leu845=)
c.550C>T (p.Leu184=)
c.609C>T
c.1741C>T (p.Leu581=)
c.2869C>T (p.Leu957=)
c.3049C>T (p.Leu1017=)
c.2716C>T (p.Leu906=)
7g.117606725T>ACA368989141CFTRc.2960T>A (p.Leu987Gln)
c.*2674T>A (n.*2674T>A)
c.2777T>A (p.Leu926Gln)
c.*1260T>A (n.*1260T>A)
c.*2784T>A (n.*2784T>A)
c.2534T>A (p.Leu845Gln)
c.551T>A (p.Leu184Gln)
c.610T>A
c.1742T>A (p.Leu581Gln)
c.2870T>A (p.Leu957Gln)
c.3050T>A (p.Leu1017Gln)
c.2717T>A (p.Leu906Gln)
7g.117606725T>CCA368989143CFTRc.2960T>C (p.Leu987Pro)
c.*2674T>C (n.*2674T>C)
c.2777T>C (p.Leu926Pro)
c.*1260T>C (n.*1260T>C)
c.*2784T>C (n.*2784T>C)
c.2534T>C (p.Leu845Pro)
c.551T>C (p.Leu184Pro)
c.610T>C
c.1742T>C (p.Leu581Pro)
c.2870T>C (p.Leu957Pro)
c.3050T>C (p.Leu1017Pro)
c.2717T>C (p.Leu906Pro)
 gnomAD v4
7g.117606725T>GCA368989144CFTRc.2960T>G (p.Leu987Arg)
c.*2674T>G (n.*2674T>G)
c.2777T>G (p.Leu926Arg)
c.*1260T>G (n.*1260T>G)
c.*2784T>G (n.*2784T>G)
c.2534T>G (p.Leu845Arg)
c.551T>G (p.Leu184Arg)
c.610T>G
c.1742T>G (p.Leu581Arg)
c.2870T>G (p.Leu957Arg)
c.3050T>G (p.Leu1017Arg)
c.2717T>G (p.Leu906Arg)
7g.117606726G>ACA457228837CFTRc.2961G>A (p.Leu987=)
c.*2675G>A (n.*2675G>A)
c.2778G>A (p.Leu926=)
c.*1261G>A (n.*1261G>A)
c.*2785G>A (n.*2785G>A)
c.2535G>A (p.Leu845=)
c.552G>A (p.Leu184=)
c.611G>A
c.1743G>A (p.Leu581=)
c.2871G>A (p.Leu957=)
c.3051G>A (p.Leu1017=)
c.2718G>A (p.Leu906=)
7g.117606726G>CCA457228839CFTRc.2961G>C (p.Leu987=)
c.*2675G>C (n.*2675G>C)
c.2778G>C (p.Leu926=)
c.*1261G>C (n.*1261G>C)
c.*2785G>C (n.*2785G>C)
c.2535G>C (p.Leu845=)
c.552G>C (p.Leu184=)
c.611G>C
c.1743G>C (p.Leu581=)
c.2871G>C (p.Leu957=)
c.3051G>C (p.Leu1017=)
c.2718G>C (p.Leu906=)
7g.117606726G>TCA457228838CFTRc.2961G>T (p.Leu987=)
c.*2675G>T (n.*2675G>T)
c.2778G>T (p.Leu926=)
c.*1261G>T (n.*1261G>T)
c.*2785G>T (n.*2785G>T)
c.2535G>T (p.Leu845=)
c.552G>T (p.Leu184=)
c.611G>T
c.1743G>T (p.Leu581=)
c.2871G>T (p.Leu957=)
c.3051G>T (p.Leu1017=)
c.2718G>T (p.Leu906=)
 gnomAD v4
7g.117606727C>ACA368989150CFTRc.2962C>A (p.Pro988Thr)
c.*2676C>A (n.*2676C>A)
c.2779C>A (p.Pro927Thr)
c.*1262C>A (n.*1262C>A)
c.*2786C>A (n.*2786C>A)
c.2536C>A (p.Pro846Thr)
c.553C>A (p.Pro185Thr)
c.612C>A
c.1744C>A (p.Pro582Thr)
c.2872C>A (p.Pro958Thr)
c.3052C>A (p.Pro1018Thr)
c.2719C>A (p.Pro907Thr)
 gnomAD v4
7g.117606727C>GCA368989149CFTRc.2962C>G (p.Pro988Ala)
c.*2676C>G (n.*2676C>G)
c.2779C>G (p.Pro927Ala)
c.*1262C>G (n.*1262C>G)
c.*2786C>G (n.*2786C>G)
c.2536C>G (p.Pro846Ala)
c.553C>G (p.Pro185Ala)
c.612C>G
c.1744C>G (p.Pro582Ala)
c.2872C>G (p.Pro958Ala)
c.3052C>G (p.Pro1018Ala)
c.2719C>G (p.Pro907Ala)
7g.117606727C>TCA368989147CFTRc.2962C>T (p.Pro988Ser)
c.*2676C>T (n.*2676C>T)
c.2779C>T (p.Pro927Ser)
c.*1262C>T (n.*1262C>T)
c.*2786C>T (n.*2786C>T)
c.2536C>T (p.Pro846Ser)
c.553C>T (p.Pro185Ser)
c.612C>T
c.1744C>T (p.Pro582Ser)
c.2872C>T (p.Pro958Ser)
c.3052C>T (p.Pro1018Ser)
c.2719C>T (p.Pro907Ser)
 gnomAD v3 gnomAD v4
7g.117606728C>ACA368989153CFTRc.2963C>A (p.Pro988His)
c.*2677C>A (n.*2677C>A)
c.2780C>A (p.Pro927His)
c.*1263C>A (n.*1263C>A)
c.*2787C>A (n.*2787C>A)
c.2537C>A (p.Pro846His)
c.554C>A (p.Pro185His)
c.613C>A
c.1745C>A (p.Pro582His)
c.2873C>A (p.Pro958His)
c.3053C>A (p.Pro1018His)
c.2720C>A (p.Pro907His)
 gnomAD v4
7g.117606728C=CA1737379661CFTRc.2963C= (p.Pro988=)
c.*2677C= (n.*2677C=)
c.2780C= (p.Pro927=)
c.*1263C= (n.*1263C=)
c.*2787C= (n.*2787C=)
c.2537C= (p.Pro846=)
c.554C= (p.Pro185=)
c.613C=
c.1745C= (p.Pro582=)
c.2873C= (p.Pro958=)
c.3053C= (p.Pro1018=)
c.2720C= (p.Pro907=)
7g.117606728C>GCA368989155CFTRc.2963C>G (p.Pro988Arg)
c.*2677C>G (n.*2677C>G)
c.2780C>G (p.Pro927Arg)
c.*1263C>G (n.*1263C>G)
c.*2787C>G (n.*2787C>G)
c.2537C>G (p.Pro846Arg)
c.554C>G (p.Pro185Arg)
c.613C>G
c.1745C>G (p.Pro582Arg)
c.2873C>G (p.Pro958Arg)
c.3053C>G (p.Pro1018Arg)
c.2720C>G (p.Pro907Arg)
7g.117606728C>TCA368989157CFTRc.2963C>T (p.Pro988Leu)
c.*2677C>T (n.*2677C>T)
c.2780C>T (p.Pro927Leu)
c.*1263C>T (n.*1263C>T)
c.*2787C>T (n.*2787C>T)
c.2537C>T (p.Pro846Leu)
c.554C>T (p.Pro185Leu)
c.613C>T
c.1745C>T (p.Pro582Leu)
c.2873C>T (p.Pro958Leu)
c.3053C>T (p.Pro1018Leu)
c.2720C>T (p.Pro907Leu)
 ClinVar dbSNP gnomAD v4
7g.117606729T>ACA457228843CFTRc.2964T>A (p.Pro988=)
c.*2678T>A (n.*2678T>A)
c.2781T>A (p.Pro927=)
c.*1264T>A (n.*1264T>A)
c.*2788T>A (n.*2788T>A)
c.2538T>A (p.Pro846=)
c.555T>A (p.Pro185=)
c.614T>A
c.1746T>A (p.Pro582=)
c.2874T>A (p.Pro958=)
c.3054T>A (p.Pro1018=)
c.2721T>A (p.Pro907=)
 gnomAD v4
7g.117606729T>CCA457228844CFTRc.2964T>C (p.Pro988=)
c.*2678T>C (n.*2678T>C)
c.2781T>C (p.Pro927=)
c.*1264T>C (n.*1264T>C)
c.*2788T>C (n.*2788T>C)
c.2538T>C (p.Pro846=)
c.555T>C (p.Pro185=)
c.614T>C
c.1746T>C (p.Pro582=)
c.2874T>C (p.Pro958=)
c.3054T>C (p.Pro1018=)
c.2721T>C (p.Pro907=)
7g.117606729T>GCA457228845CFTRc.2964T>G (p.Pro988=)
c.*2678T>G (n.*2678T>G)
c.2781T>G (p.Pro927=)
c.*1264T>G (n.*1264T>G)
c.*2788T>G (n.*2788T>G)
c.2538T>G (p.Pro846=)
c.555T>G (p.Pro185=)
c.614T>G
c.1746T>G (p.Pro582=)
c.2874T>G (p.Pro958=)
c.3054T>G (p.Pro1018=)
c.2721T>G (p.Pro907=)
7g.117606730C>ACA368989159CFTRc.2965C>A (p.Leu989Ile)
c.*2679C>A (n.*2679C>A)
c.2782C>A (p.Leu928Ile)
c.*1265C>A (n.*1265C>A)
c.*2789C>A (n.*2789C>A)
c.2539C>A (p.Leu847Ile)
c.556C>A (p.Leu186Ile)
c.615C>A
c.1747C>A (p.Leu583Ile)
c.2875C>A (p.Leu959Ile)
c.3055C>A (p.Leu1019Ile)
c.2722C>A (p.Leu908Ile)
7g.117606730C>GCA368989161CFTRc.2965C>G (p.Leu989Val)
c.*2679C>G (n.*2679C>G)
c.2782C>G (p.Leu928Val)
c.*1265C>G (n.*1265C>G)
c.*2789C>G (n.*2789C>G)
c.2539C>G (p.Leu847Val)
c.556C>G (p.Leu186Val)
c.615C>G
c.1747C>G (p.Leu583Val)
c.2875C>G (p.Leu959Val)
c.3055C>G (p.Leu1019Val)
c.2722C>G (p.Leu908Val)
7g.117606730C>TCA368989163CFTRc.2965C>T (p.Leu989Phe)
c.*2679C>T (n.*2679C>T)
c.2782C>T (p.Leu928Phe)
c.*1265C>T (n.*1265C>T)
c.*2789C>T (n.*2789C>T)
c.2539C>T (p.Leu847Phe)
c.556C>T (p.Leu186Phe)
c.615C>T
c.1747C>T (p.Leu583Phe)
c.2875C>T (p.Leu959Phe)
c.3055C>T (p.Leu1019Phe)
c.2722C>T (p.Leu908Phe)
7g.117606731T>ACA368989169CFTRc.2966T>A (p.Leu989His)
c.*2680T>A (n.*2680T>A)
c.2783T>A (p.Leu928His)
c.*1266T>A (n.*1266T>A)
c.*2790T>A (n.*2790T>A)
c.2540T>A (p.Leu847His)
c.557T>A (p.Leu186His)
c.616T>A
c.1748T>A (p.Leu583His)
c.2876T>A (p.Leu959His)
c.3056T>A (p.Leu1019His)
c.2723T>A (p.Leu908His)
7g.117606731T>CCA368989165CFTRc.2966T>C (p.Leu989Pro)
c.*2680T>C (n.*2680T>C)
c.2783T>C (p.Leu928Pro)
c.*1266T>C (n.*1266T>C)
c.*2790T>C (n.*2790T>C)
c.2540T>C (p.Leu847Pro)
c.557T>C (p.Leu186Pro)
c.616T>C
c.1748T>C (p.Leu583Pro)
c.2876T>C (p.Leu959Pro)
c.3056T>C (p.Leu1019Pro)
c.2723T>C (p.Leu908Pro)
 gnomAD v4
7g.117606731T>GCA368989167CFTRc.2966T>G (p.Leu989Arg)
c.*2680T>G (n.*2680T>G)
c.2783T>G (p.Leu928Arg)
c.*1266T>G (n.*1266T>G)
c.*2790T>G (n.*2790T>G)
c.2540T>G (p.Leu847Arg)
c.557T>G (p.Leu186Arg)
c.616T>G
c.1748T>G (p.Leu583Arg)
c.2876T>G (p.Leu959Arg)
c.3056T>G (p.Leu1019Arg)
c.2723T>G (p.Leu908Arg)
 COSMIC
7g.117606732delCA2684588064CFTRc.2967del (p.Thr990ProfsTer10)
c.*2681del (n.*2681del)
c.2784del (p.Thr929ProfsTer10)
c.*1267del (n.*1267del)
c.*2791del (n.*2791del)
c.2541del (p.Thr848ProfsTer10)
c.558del (p.Thr187ProfsTer10)
c.617del
c.1749del (p.Thr584ProfsTer10)
c.2877del (p.Thr960ProfsTer10)
c.3057del (p.Thr1020ProfsTer10)
c.2724del (p.Thr909ProfsTer10)
 gnomAD v4
7g.117606732T>ACA457228848CFTRc.2967T>A (p.Leu989=)
c.*2681T>A (n.*2681T>A)
c.2784T>A (p.Leu928=)
c.*1267T>A (n.*1267T>A)
c.*2791T>A (n.*2791T>A)
c.2541T>A (p.Leu847=)
c.558T>A (p.Leu186=)
c.617T>A
c.1749T>A (p.Leu583=)
c.2877T>A (p.Leu959=)
c.3057T>A (p.Leu1019=)
c.2724T>A (p.Leu908=)
 gnomAD v4
7g.117606732T>CCA457228850CFTRc.2967T>C (p.Leu989=)
c.*2681T>C (n.*2681T>C)
c.2784T>C (p.Leu928=)
c.*1267T>C (n.*1267T>C)
c.*2791T>C (n.*2791T>C)
c.2541T>C (p.Leu847=)
c.558T>C (p.Leu186=)
c.617T>C
c.1749T>C (p.Leu583=)
c.2877T>C (p.Leu959=)
c.3057T>C (p.Leu1019=)
c.2724T>C (p.Leu908=)
7g.117606732T>GCA457228849CFTRc.2967T>G (p.Leu989=)
c.*2681T>G (n.*2681T>G)
c.2784T>G (p.Leu928=)
c.*1267T>G (n.*1267T>G)
c.*2791T>G (n.*2791T>G)
c.2541T>G (p.Leu847=)
c.558T>G (p.Leu186=)
c.617T>G
c.1749T>G (p.Leu583=)
c.2877T>G (p.Leu959=)
c.3057T>G (p.Leu1019=)
c.2724T>G (p.Leu908=)
7g.117606732T=CA1737379667CFTRc.2967T= (p.Leu989=)
c.*2681T= (n.*2681T=)
c.2784T= (p.Leu928=)
c.*1267T= (n.*1267T=)
c.*2791T= (n.*2791T=)
c.2541T= (p.Leu847=)
c.558T= (p.Leu186=)
c.617T=
c.1749T= (p.Leu583=)
c.2877T= (p.Leu959=)
c.3057T= (p.Leu1019=)
c.2724T= (p.Leu908=)
7g.117606733A=CA1737379674CFTRc.2968A= (p.Thr990=)
c.*2682A= (n.*2682A=)
c.2785A= (p.Thr929=)
c.*1268A= (n.*1268A=)
c.*2792A= (n.*2792A=)
c.2542A= (p.Thr848=)
c.559A= (p.Thr187=)
c.618A=
c.1750A= (p.Thr584=)
c.2878A= (p.Thr960=)
c.3058A= (p.Thr1020=)
c.2725A= (p.Thr909=)
7g.117606733A>CCA368989171CFTRc.2968A>C (p.Thr990Pro)
c.*2682A>C (n.*2682A>C)
c.2785A>C (p.Thr929Pro)
c.*1268A>C (n.*1268A>C)
c.*2792A>C (n.*2792A>C)
c.2542A>C (p.Thr848Pro)
c.559A>C (p.Thr187Pro)
c.618A>C
c.1750A>C (p.Thr584Pro)
c.2878A>C (p.Thr960Pro)
c.3058A>C (p.Thr1020Pro)
c.2725A>C (p.Thr909Pro)
7g.117606733A>GCA368989172CFTRc.2968A>G (p.Thr990Ala)
c.*2682A>G (n.*2682A>G)
c.2785A>G (p.Thr929Ala)
c.*1268A>G (n.*1268A>G)
c.*2792A>G (n.*2792A>G)
c.2542A>G (p.Thr848Ala)
c.559A>G (p.Thr187Ala)
c.618A>G
c.1750A>G (p.Thr584Ala)
c.2878A>G (p.Thr960Ala)
c.3058A>G (p.Thr1020Ala)
c.2725A>G (p.Thr909Ala)
 dbSNP gnomAD v3 gnomAD v4
7g.117606733A>TCA368989174CFTRc.2968A>T (p.Thr990Ser)
c.*2682A>T (n.*2682A>T)
c.2785A>T (p.Thr929Ser)
c.*1268A>T (n.*1268A>T)
c.*2792A>T (n.*2792A>T)
c.2542A>T (p.Thr848Ser)
c.559A>T (p.Thr187Ser)
c.618A>T
c.1750A>T (p.Thr584Ser)
c.2878A>T (p.Thr960Ser)
c.3058A>T (p.Thr1020Ser)
c.2725A>T (p.Thr909Ser)
7g.117606733dupCA326990CFTRc.2968dup (p.Thr990AsnfsTer4)
c.*2682dup (n.*2682dup)
c.2785dup (p.Thr929AsnfsTer4)
c.*1268dup (n.*1268dup)
c.*2792dup (n.*2792dup)
c.2542dup (p.Thr848AsnfsTer4)
c.559dup (p.Thr187AsnfsTer4)
c.618dup
c.1750dup (p.Thr584AsnfsTer4)
c.2878dup (p.Thr960AsnfsTer4)
c.3058dup (p.Thr1020AsnfsTer4)
c.2725dup (p.Thr909AsnfsTer4)
 dbSNP
7g.117606734C>ACA4451338CFTRc.2969C>A (p.Thr990Asn)
c.*2683C>A (n.*2683C>A)
c.2786C>A (p.Thr929Asn)
c.*1269C>A (n.*1269C>A)
c.*2793C>A (n.*2793C>A)
c.2543C>A (p.Thr848Asn)
c.560C>A (p.Thr187Asn)
c.619C>A
c.1751C>A (p.Thr584Asn)
c.2879C>A (p.Thr960Asn)
c.3059C>A (p.Thr1020Asn)
c.2726C>A (p.Thr909Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117606734C=CA1737379683CFTRc.2969C= (p.Thr990=)
c.*2683C= (n.*2683C=)
c.2786C= (p.Thr929=)
c.*1269C= (n.*1269C=)
c.*2793C= (n.*2793C=)
c.2543C= (p.Thr848=)
c.560C= (p.Thr187=)
c.619C=
c.1751C= (p.Thr584=)
c.2879C= (p.Thr960=)
c.3059C= (p.Thr1020=)
c.2726C= (p.Thr909=)
7g.117606734C>GCA4451337CFTRc.2969C>G (p.Thr990Ser)
c.*2683C>G (n.*2683C>G)
c.2786C>G (p.Thr929Ser)
c.*1269C>G (n.*1269C>G)
c.*2793C>G (n.*2793C>G)
c.2543C>G (p.Thr848Ser)
c.560C>G (p.Thr187Ser)
c.619C>G
c.1751C>G (p.Thr584Ser)
c.2879C>G (p.Thr960Ser)
c.3059C>G (p.Thr1020Ser)
c.2726C>G (p.Thr909Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.117606734C>TCA368989176CFTRc.2969C>T (p.Thr990Ile)
c.*2683C>T (n.*2683C>T)
c.2786C>T (p.Thr929Ile)
c.*1269C>T (n.*1269C>T)
c.*2793C>T (n.*2793C>T)
c.2543C>T (p.Thr848Ile)
c.560C>T (p.Thr187Ile)
c.619C>T
c.1751C>T (p.Thr584Ile)
c.2879C>T (p.Thr960Ile)
c.3059C>T (p.Thr1020Ile)
c.2726C>T (p.Thr909Ile)
7g.117606735delCA2579000331CFTRc.2970del (p.Ile991TyrfsTer9)
c.*2684del (n.*2684del)
c.2787del (p.Ile930TyrfsTer9)
c.*1270del (n.*1270del)
c.*2794del (n.*2794del)
c.2544del (p.Ile849TyrfsTer9)
c.561del (p.Ile188TyrfsTer9)
c.620del
c.1752del (p.Ile585TyrfsTer9)
c.2880del (p.Ile961TyrfsTer9)
c.3060del (p.Ile1021TyrfsTer9)
c.2727del (p.Ile910TyrfsTer9)
 gnomAD v4
7g.117606735C>ACA457228852CFTRc.2970C>A (p.Thr990=)
c.*2684C>A (n.*2684C>A)
c.2787C>A (p.Thr929=)
c.*1270C>A (n.*1270C>A)
c.*2794C>A (n.*2794C>A)
c.2544C>A (p.Thr848=)
c.561C>A (p.Thr187=)
c.620C>A
c.1752C>A (p.Thr584=)
c.2880C>A (p.Thr960=)
c.3060C>A (p.Thr1020=)
c.2727C>A (p.Thr909=)
 gnomAD v4
7g.117606735C>GCA457228853CFTRc.2970C>G (p.Thr990=)
c.*2684C>G (n.*2684C>G)
c.2787C>G (p.Thr929=)
c.*1270C>G (n.*1270C>G)
c.*2794C>G (n.*2794C>G)
c.2544C>G (p.Thr848=)
c.561C>G (p.Thr187=)
c.620C>G
c.1752C>G (p.Thr584=)
c.2880C>G (p.Thr960=)
c.3060C>G (p.Thr1020=)
c.2727C>G (p.Thr909=)
7g.117606735C>TCA457228854CFTRc.2970C>T (p.Thr990=)
c.*2684C>T (n.*2684C>T)
c.2787C>T (p.Thr929=)
c.*1270C>T (n.*1270C>T)
c.*2794C>T (n.*2794C>T)
c.2544C>T (p.Thr848=)
c.561C>T (p.Thr187=)
c.620C>T
c.1752C>T (p.Thr584=)
c.2880C>T (p.Thr960=)
c.3060C>T (p.Thr1020=)
c.2727C>T (p.Thr909=)
 ClinVar COSMIC
7g.117606736A=CA1737379689CFTRc.2971A= (p.Ile991=)
c.*2685A= (n.*2685A=)
c.2788A= (p.Ile930=)
c.*1271A= (n.*1271A=)
c.*2795A= (n.*2795A=)
c.2545A= (p.Ile849=)
c.562A= (p.Ile188=)
c.621A=
c.1753A= (p.Ile585=)
c.2881A= (p.Ile961=)
c.3061A= (p.Ile1021=)
c.2728A= (p.Ile910=)
7g.117606736A>CCA368989179CFTRc.2971A>C (p.Ile991Leu)
c.*2685A>C (n.*2685A>C)
c.2788A>C (p.Ile930Leu)
c.*1271A>C (n.*1271A>C)
c.*2795A>C (n.*2795A>C)
c.2545A>C (p.Ile849Leu)
c.562A>C (p.Ile188Leu)
c.621A>C
c.1753A>C (p.Ile585Leu)
c.2881A>C (p.Ile961Leu)
c.3061A>C (p.Ile1021Leu)
c.2728A>C (p.Ile910Leu)
7g.117606736A>GCA4451339CFTRc.2971A>G (p.Ile991Val)
c.*2685A>G (n.*2685A>G)
c.2788A>G (p.Ile930Val)
c.*1271A>G (n.*1271A>G)
c.*2795A>G (n.*2795A>G)
c.2545A>G (p.Ile849Val)
c.562A>G (p.Ile188Val)
c.621A>G
c.1753A>G (p.Ile585Val)
c.2881A>G (p.Ile961Val)
c.3061A>G (p.Ile1021Val)
c.2728A>G (p.Ile910Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117606736A>TCA368989182CFTRc.2971A>T (p.Ile991Leu)
c.*2685A>T (n.*2685A>T)
c.2788A>T (p.Ile930Leu)
c.*1271A>T (n.*1271A>T)
c.*2795A>T (n.*2795A>T)
c.2545A>T (p.Ile849Leu)
c.562A>T (p.Ile188Leu)
c.621A>T
c.1753A>T (p.Ile585Leu)
c.2881A>T (p.Ile961Leu)
c.3061A>T (p.Ile1021Leu)
c.2728A>T (p.Ile910Leu)
7g.117606737T>ACA368989184CFTRc.2972T>A (p.Ile991Lys)
c.*2686T>A (n.*2686T>A)
c.2789T>A (p.Ile930Lys)
c.*1272T>A (n.*1272T>A)
c.*2796T>A (n.*2796T>A)
c.2546T>A (p.Ile849Lys)
c.563T>A (p.Ile188Lys)
c.622T>A
c.1754T>A (p.Ile585Lys)
c.2882T>A (p.Ile961Lys)
c.3062T>A (p.Ile1021Lys)
c.2729T>A (p.Ile910Lys)
 gnomAD v4
7g.117606737T>CCA368989186CFTRc.2972T>C (p.Ile991Thr)
c.*2686T>C (n.*2686T>C)
c.2789T>C (p.Ile930Thr)
c.*1272T>C (n.*1272T>C)
c.*2796T>C (n.*2796T>C)
c.2546T>C (p.Ile849Thr)
c.563T>C (p.Ile188Thr)
c.622T>C
c.1754T>C (p.Ile585Thr)
c.2882T>C (p.Ile961Thr)
c.3062T>C (p.Ile1021Thr)
c.2729T>C (p.Ile910Thr)
7g.117606737T>GCA368989187CFTRc.2972T>G (p.Ile991Arg)
c.*2686T>G (n.*2686T>G)
c.2789T>G (p.Ile930Arg)
c.*1272T>G (n.*1272T>G)
c.*2796T>G (n.*2796T>G)
c.2546T>G (p.Ile849Arg)
c.563T>G (p.Ile188Arg)
c.622T>G
c.1754T>G (p.Ile585Arg)
c.2882T>G (p.Ile961Arg)
c.3062T>G (p.Ile1021Arg)
c.2729T>G (p.Ile910Arg)
7g.117606738A=CA1737379695CFTRc.2973A= (p.Ile991=)
c.*2687A= (n.*2687A=)
c.2790A= (p.Ile930=)
c.*1273A= (n.*1273A=)
c.*2797A= (n.*2797A=)
c.2547A= (p.Ile849=)
c.564A= (p.Ile188=)
c.623A=
c.1755A= (p.Ile585=)
c.2883A= (p.Ile961=)
c.3063A= (p.Ile1021=)
c.2730A= (p.Ile910=)
7g.117606738A>CCA457228856CFTRc.2973A>C (p.Ile991=)
c.*2687A>C (n.*2687A>C)
c.2790A>C (p.Ile930=)
c.*1273A>C (n.*1273A>C)
c.*2797A>C (n.*2797A>C)
c.2547A>C (p.Ile849=)
c.564A>C (p.Ile188=)
c.623A>C
c.1755A>C (p.Ile585=)
c.2883A>C (p.Ile961=)
c.3063A>C (p.Ile1021=)
c.2730A>C (p.Ile910=)
7g.117606738A>GCA4451340CFTRc.2973A>G (p.Ile991Met)
c.*2687A>G (n.*2687A>G)
c.2790A>G (p.Ile930Met)
c.*1273A>G (n.*1273A>G)
c.*2797A>G (n.*2797A>G)
c.2547A>G (p.Ile849Met)
c.564A>G (p.Ile188Met)
c.623A>G
c.1755A>G (p.Ile585Met)
c.2883A>G (p.Ile961Met)
c.3063A>G (p.Ile1021Met)
c.2730A>G (p.Ile910Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606738A>TCA457228857CFTRc.2973A>T (p.Ile991=)
c.*2687A>T (n.*2687A>T)
c.2790A>T (p.Ile930=)
c.*1273A>T (n.*1273A>T)
c.*2797A>T (n.*2797A>T)
c.2547A>T (p.Ile849=)
c.564A>T (p.Ile188=)
c.623A>T
c.1755A>T (p.Ile585=)
c.2883A>T (p.Ile961=)
c.3063A>T (p.Ile1021=)
c.2730A>T (p.Ile910=)
7g.117606739T>ACA368989193CFTRc.2974T>A (p.Phe992Ile)
c.*2688T>A (n.*2688T>A)
c.2791T>A (p.Phe931Ile)
c.*1274T>A (n.*1274T>A)
c.*2798T>A (n.*2798T>A)
c.2548T>A (p.Phe850Ile)
c.565T>A (p.Phe189Ile)
c.624T>A
c.1756T>A (p.Phe586Ile)
c.2884T>A (p.Phe962Ile)
c.3064T>A (p.Phe1022Ile)
c.2731T>A (p.Phe911Ile)
7g.117606739T>CCA368989190CFTRc.2974T>C (p.Phe992Leu)
c.*2688T>C (n.*2688T>C)
c.2791T>C (p.Phe931Leu)
c.*1274T>C (n.*1274T>C)
c.*2798T>C (n.*2798T>C)
c.2548T>C (p.Phe850Leu)
c.565T>C (p.Phe189Leu)
c.624T>C
c.1756T>C (p.Phe586Leu)
c.2884T>C (p.Phe962Leu)
c.3064T>C (p.Phe1022Leu)
c.2731T>C (p.Phe911Leu)
 ClinVar dbSNP
7g.117606739T>GCA164962532CFTRc.2974T>G (p.Phe992Val)
c.*2688T>G (n.*2688T>G)
c.2791T>G (p.Phe931Val)
c.*1274T>G (n.*1274T>G)
c.*2798T>G (n.*2798T>G)
c.2548T>G (p.Phe850Val)
c.565T>G (p.Phe189Val)
c.624T>G
c.1756T>G (p.Phe586Val)
c.2884T>G (p.Phe962Val)
c.3064T>G (p.Phe1022Val)
c.2731T>G (p.Phe911Val)
 dbSNP gnomAD v3 gnomAD v4
7g.117606739T=CA1737379707CFTRc.2974T= (p.Phe992=)
c.*2688T= (n.*2688T=)
c.2791T= (p.Phe931=)
c.*1274T= (n.*1274T=)
c.*2798T= (n.*2798T=)
c.2548T= (p.Phe850=)
c.565T= (p.Phe189=)
c.624T=
c.1756T= (p.Phe586=)
c.2884T= (p.Phe962=)
c.3064T= (p.Phe1022=)
c.2731T= (p.Phe911=)
7g.117606740T>ACA368989194CFTRc.2975T>A (p.Phe992Tyr)
c.*2689T>A (n.*2689T>A)
c.2792T>A (p.Phe931Tyr)
c.*1275T>A (n.*1275T>A)
c.*2799T>A (n.*2799T>A)
c.2549T>A (p.Phe850Tyr)
c.566T>A (p.Phe189Tyr)
c.625T>A
c.1757T>A (p.Phe586Tyr)
c.2885T>A (p.Phe962Tyr)
c.3065T>A (p.Phe1022Tyr)
c.2732T>A (p.Phe911Tyr)
7g.117606740T>CCA368989196CFTRc.2975T>C (p.Phe992Ser)
c.*2689T>C (n.*2689T>C)
c.2792T>C (p.Phe931Ser)
c.*1275T>C (n.*1275T>C)
c.*2799T>C (n.*2799T>C)
c.2549T>C (p.Phe850Ser)
c.566T>C (p.Phe189Ser)
c.625T>C
c.1757T>C (p.Phe586Ser)
c.2885T>C (p.Phe962Ser)
c.3065T>C (p.Phe1022Ser)
c.2732T>C (p.Phe911Ser)
 gnomAD v4 COSMIC
7g.117606740T>GCA368989198CFTRc.2975T>G (p.Phe992Cys)
c.*2689T>G (n.*2689T>G)
c.2792T>G (p.Phe931Cys)
c.*1275T>G (n.*1275T>G)
c.*2799T>G (n.*2799T>G)
c.2549T>G (p.Phe850Cys)
c.566T>G (p.Phe189Cys)
c.625T>G
c.1757T>G (p.Phe586Cys)
c.2885T>G (p.Phe962Cys)
c.3065T>G (p.Phe1022Cys)
c.2732T>G (p.Phe911Cys)
7g.117606741T>ACA4451341CFTRc.2976T>A (p.Phe992Leu)
c.*2690T>A (n.*2690T>A)
c.2793T>A (p.Phe931Leu)
c.*1276T>A (n.*1276T>A)
c.*2800T>A (n.*2800T>A)
c.2550T>A (p.Phe850Leu)
c.567T>A (p.Phe189Leu)
c.626T>A
c.1758T>A (p.Phe586Leu)
c.2886T>A (p.Phe962Leu)
c.3066T>A (p.Phe1022Leu)
c.2733T>A (p.Phe911Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117606741T>CCA457228859CFTRc.2976T>C (p.Phe992=)
c.*2690T>C (n.*2690T>C)
c.2793T>C (p.Phe931=)
c.*1276T>C (n.*1276T>C)
c.*2800T>C (n.*2800T>C)
c.2550T>C (p.Phe850=)
c.567T>C (p.Phe189=)
c.626T>C
c.1758T>C (p.Phe586=)
c.2886T>C (p.Phe962=)
c.3066T>C (p.Phe1022=)
c.2733T>C (p.Phe911=)
 gnomAD v4
7g.117606741T>GCA368989201CFTRc.2976T>G (p.Phe992Leu)
c.*2690T>G (n.*2690T>G)
c.2793T>G (p.Phe931Leu)
c.*1276T>G (n.*1276T>G)
c.*2800T>G (n.*2800T>G)
c.2550T>G (p.Phe850Leu)
c.567T>G (p.Phe189Leu)
c.626T>G
c.1758T>G (p.Phe586Leu)
c.2886T>G (p.Phe962Leu)
c.3066T>G (p.Phe1022Leu)
c.2733T>G (p.Phe911Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.117606741T=CA1737379717CFTRc.2976T= (p.Phe992=)
c.*2690T= (n.*2690T=)
c.2793T= (p.Phe931=)
c.*1276T= (n.*1276T=)
c.*2800T= (n.*2800T=)
c.2550T= (p.Phe850=)
c.567T= (p.Phe189=)
c.626T=
c.1758T= (p.Phe586=)
c.2886T= (p.Phe962=)
c.3066T= (p.Phe1022=)
c.2733T= (p.Phe911=)
7g.117606742G>ACA368989203CFTRc.2977G>A (p.Asp993Asn)
c.*2691G>A (n.*2691G>A)
c.2794G>A (p.Asp932Asn)
c.*1277G>A (n.*1277G>A)
c.*2801G>A (n.*2801G>A)
c.2551G>A (p.Asp851Asn)
c.568G>A (p.Asp190Asn)
c.627G>A
c.1759G>A (p.Asp587Asn)
c.2887G>A (p.Asp963Asn)
c.3067G>A (p.Asp1023Asn)
c.2734G>A (p.Asp912Asn)
7g.117606742G>CCA368989204CFTRc.2977G>C (p.Asp993His)
c.*2691G>C (n.*2691G>C)
c.2794G>C (p.Asp932His)
c.*1277G>C (n.*1277G>C)
c.*2801G>C (n.*2801G>C)
c.2551G>C (p.Asp851His)
c.568G>C (p.Asp190His)
c.627G>C
c.1759G>C (p.Asp587His)
c.2887G>C (p.Asp963His)
c.3067G>C (p.Asp1023His)
c.2734G>C (p.Asp912His)
7g.117606742G=CA1737379739CFTRc.2977G= (p.Asp993=)
c.*2691G= (n.*2691G=)
c.2794G= (p.Asp932=)
c.*1277G= (n.*1277G=)
c.*2801G= (n.*2801G=)
c.2551G= (p.Asp851=)
c.568G= (p.Asp190=)
c.627G=
c.1759G= (p.Asp587=)
c.2887G= (p.Asp963=)
c.3067G= (p.Asp1023=)
c.2734G= (p.Asp912=)
7g.117606742G>TCA326993CFTRc.2977G>T (p.Asp993Tyr)
c.*2691G>T (n.*2691G>T)
c.2794G>T (p.Asp932Tyr)
c.*1277G>T (n.*1277G>T)
c.*2801G>T (n.*2801G>T)
c.2551G>T (p.Asp851Tyr)
c.568G>T (p.Asp190Tyr)
c.627G>T
c.1759G>T (p.Asp587Tyr)
c.2887G>T (p.Asp963Tyr)
c.3067G>T (p.Asp1023Tyr)
c.2734G>T (p.Asp912Tyr)
 ClinVar dbSNP gnomAD v4
7g.117606743A=CA1737379746CFTRc.2978A= (p.Asp993=)
c.*2692A= (n.*2692A=)
c.2795A= (p.Asp932=)
c.*1278A= (n.*1278A=)
c.*2802A= (n.*2802A=)
c.2552A= (p.Asp851=)
c.569A= (p.Asp190=)
c.628A=
c.1760A= (p.Asp587=)
c.2888A= (p.Asp963=)
c.3068A= (p.Asp1023=)
c.2735A= (p.Asp912=)
7g.117606743A>CCA368989207CFTRc.2978A>C (p.Asp993Ala)
c.*2692A>C (n.*2692A>C)
c.2795A>C (p.Asp932Ala)
c.*1278A>C (n.*1278A>C)
c.*2802A>C (n.*2802A>C)
c.2552A>C (p.Asp851Ala)
c.569A>C (p.Asp190Ala)
c.628A>C
c.1760A>C (p.Asp587Ala)
c.2888A>C (p.Asp963Ala)
c.3068A>C (p.Asp1023Ala)
c.2735A>C (p.Asp912Ala)
7g.117606743A>GCA4451342CFTRc.2978A>G (p.Asp993Gly)
c.*2692A>G (n.*2692A>G)
c.2795A>G (p.Asp932Gly)
c.*1278A>G (n.*1278A>G)
c.*2802A>G (n.*2802A>G)
c.2552A>G (p.Asp851Gly)
c.569A>G (p.Asp190Gly)
c.628A>G
c.1760A>G (p.Asp587Gly)
c.2888A>G (p.Asp963Gly)
c.3068A>G (p.Asp1023Gly)
c.2735A>G (p.Asp912Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117606743A>TCA368989210CFTRc.2978A>T (p.Asp993Val)
c.*2692A>T (n.*2692A>T)
c.2795A>T (p.Asp932Val)
c.*1278A>T (n.*1278A>T)
c.*2802A>T (n.*2802A>T)
c.2552A>T (p.Asp851Val)
c.569A>T (p.Asp190Val)
c.628A>T
c.1760A>T (p.Asp587Val)
c.2888A>T (p.Asp963Val)
c.3068A>T (p.Asp1023Val)
c.2735A>T (p.Asp912Val)
7g.117606744C>ACA368989212CFTRc.2979C>A (p.Asp993Glu)
c.*2693C>A (n.*2693C>A)
c.2796C>A (p.Asp932Glu)
c.*1279C>A (n.*1279C>A)
c.*2803C>A (n.*2803C>A)
c.2553C>A (p.Asp851Glu)
c.570C>A (p.Asp190Glu)
c.629C>A
c.1761C>A (p.Asp587Glu)
c.2889C>A (p.Asp963Glu)
c.3069C>A (p.Asp1023Glu)
c.2736C>A (p.Asp912Glu)
 gnomAD v4
7g.117606744C>GCA368989214CFTRc.2979C>G (p.Asp993Glu)
c.*2693C>G (n.*2693C>G)
c.2796C>G (p.Asp932Glu)
c.*1279C>G (n.*1279C>G)
c.*2803C>G (n.*2803C>G)
c.2553C>G (p.Asp851Glu)
c.570C>G (p.Asp190Glu)
c.629C>G
c.1761C>G (p.Asp587Glu)
c.2889C>G (p.Asp963Glu)
c.3069C>G (p.Asp1023Glu)
c.2736C>G (p.Asp912Glu)
7g.117606744C>TCA457228861CFTRc.2979C>T (p.Asp993=)
c.*2693C>T (n.*2693C>T)
c.2796C>T (p.Asp932=)
c.*1279C>T (n.*1279C>T)
c.*2803C>T (n.*2803C>T)
c.2553C>T (p.Asp851=)
c.570C>T (p.Asp190=)
c.629C>T
c.1761C>T (p.Asp587=)
c.2889C>T (p.Asp963=)
c.3069C>T (p.Asp1023=)
c.2736C>T (p.Asp912=)
 ClinVar dbSNP
7g.117606745T>ACA368989219CFTRc.2980T>A (p.Phe994Ile)
c.*2694T>A (n.*2694T>A)
c.2797T>A (p.Phe933Ile)
c.*1280T>A (n.*1280T>A)
c.*2804T>A (n.*2804T>A)
c.2554T>A (p.Phe852Ile)
c.571T>A (p.Phe191Ile)
c.630T>A
c.1762T>A (p.Phe588Ile)
c.2890T>A (p.Phe964Ile)
c.3070T>A (p.Phe1024Ile)
c.2737T>A (p.Phe913Ile)
7g.117606745T>CCA368989216CFTRc.2980T>C (p.Phe994Leu)
c.*2694T>C (n.*2694T>C)
c.2797T>C (p.Phe933Leu)
c.*1280T>C (n.*1280T>C)
c.*2804T>C (n.*2804T>C)
c.2554T>C (p.Phe852Leu)
c.571T>C (p.Phe191Leu)
c.630T>C
c.1762T>C (p.Phe588Leu)
c.2890T>C (p.Phe964Leu)
c.3070T>C (p.Phe1024Leu)
c.2737T>C (p.Phe913Leu)
 gnomAD v4
7g.117606745T>GCA368989217CFTRc.2980T>G (p.Phe994Val)
c.*2694T>G (n.*2694T>G)
c.2797T>G (p.Phe933Val)
c.*1280T>G (n.*1280T>G)
c.*2804T>G (n.*2804T>G)
c.2554T>G (p.Phe852Val)
c.571T>G (p.Phe191Val)
c.630T>G
c.1762T>G (p.Phe588Val)
c.2890T>G (p.Phe964Val)
c.3070T>G (p.Phe1024Val)
c.2737T>G (p.Phe913Val)
7g.117606745_117606754delinsTTCATCCAGGCA1737379757CFTRc.2980_2988+1delinsTTCATCCAGG
c.*2694_*2702+1delinsTTCATCCAGG
c.2797_2805+1delinsTTCATCCAGG
c.*1280_*1288+1delinsTTCATCCAGG
c.*2804_*2812+1delinsTTCATCCAGG
c.2554_2562+1delinsTTCATCCAGG
c.571_579+1delinsTTCATCCAGG
c.630_638+1delinsTTCATCCAGG
c.1762_1770+1delinsTTCATCCAGG
c.2890_2898+1delinsTTCATCCAGG
c.3070_3078+1delinsTTCATCCAGG
c.2737_2745+1delinsTTCATCCAGG
7g.117606746T>ACA368989222CFTRc.2981T>A (p.Phe994Tyr)
c.*2695T>A (n.*2695T>A)
c.2798T>A (p.Phe933Tyr)
c.*1281T>A (n.*1281T>A)
c.*2805T>A (n.*2805T>A)
c.2555T>A (p.Phe852Tyr)
c.572T>A (p.Phe191Tyr)
c.631T>A
c.1763T>A (p.Phe588Tyr)
c.2891T>A (p.Phe964Tyr)
c.3071T>A (p.Phe1024Tyr)
c.2738T>A (p.Phe913Tyr)
7g.117606746T>CCA368989224CFTRc.2981T>C (p.Phe994Ser)
c.*2695T>C (n.*2695T>C)
c.2798T>C (p.Phe933Ser)
c.*1281T>C (n.*1281T>C)
c.*2805T>C (n.*2805T>C)
c.2555T>C (p.Phe852Ser)
c.572T>C (p.Phe191Ser)
c.631T>C
c.1763T>C (p.Phe588Ser)
c.2891T>C (p.Phe964Ser)
c.3071T>C (p.Phe1024Ser)
c.2738T>C (p.Phe913Ser)
 gnomAD v4
7g.117606746T>GCA326995CFTRc.2981T>G (p.Phe994Cys)
c.*2695T>G (n.*2695T>G)
c.2798T>G (p.Phe933Cys)
c.*1281T>G (n.*1281T>G)
c.*2805T>G (n.*2805T>G)
c.2555T>G (p.Phe852Cys)
c.572T>G (p.Phe191Cys)
c.631T>G
c.1763T>G (p.Phe588Cys)
c.2891T>G (p.Phe964Cys)
c.3071T>G (p.Phe1024Cys)
c.2738T>G (p.Phe913Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606746T=CA1737379770CFTRc.2981T= (p.Phe994=)
c.*2695T= (n.*2695T=)
c.2798T= (p.Phe933=)
c.*1281T= (n.*1281T=)
c.*2805T= (n.*2805T=)
c.2555T= (p.Phe852=)
c.572T= (p.Phe191=)
c.631T=
c.1763T= (p.Phe588=)
c.2891T= (p.Phe964=)
c.3071T= (p.Phe1024=)
c.2738T= (p.Phe913=)
7g.117606747_117606755delCA645509185CFTRc.2982_2988+2del
c.*2696_*2702+2del
c.2799_2805+2del
c.*1282_*1288+2del
c.*2806_*2812+2del
c.2556_2562+2del
c.573_579+2del
c.632_638+2del
c.1764_1770+2del
c.2892_2898+2del
c.3072_3078+2del
c.2739_2745+2del
 ClinVar dbSNP gnomAD v4
7g.117606747C>ACA4451343CFTRc.2982C>A (p.Phe994Leu)
c.*2696C>A (n.*2696C>A)
c.2799C>A (p.Phe933Leu)
c.*1282C>A (n.*1282C>A)
c.*2806C>A (n.*2806C>A)
c.2556C>A (p.Phe852Leu)
c.573C>A (p.Phe191Leu)
c.632C>A
c.1764C>A (p.Phe588Leu)
c.2892C>A (p.Phe964Leu)
c.3072C>A (p.Phe1024Leu)
c.2739C>A (p.Phe913Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606747C=CA1737379784CFTRc.2982C= (p.Phe994=)
c.*2696C= (n.*2696C=)
c.2799C= (p.Phe933=)
c.*1282C= (n.*1282C=)
c.*2806C= (n.*2806C=)
c.2556C= (p.Phe852=)
c.573C= (p.Phe191=)
c.632C=
c.1764C= (p.Phe588=)
c.2892C= (p.Phe964=)
c.3072C= (p.Phe1024=)
c.2739C= (p.Phe913=)
7g.117606747C>GCA368989226CFTRc.2982C>G (p.Phe994Leu)
c.*2696C>G (n.*2696C>G)
c.2799C>G (p.Phe933Leu)
c.*1282C>G (n.*1282C>G)
c.*2806C>G (n.*2806C>G)
c.2556C>G (p.Phe852Leu)
c.573C>G (p.Phe191Leu)
c.632C>G
c.1764C>G (p.Phe588Leu)
c.2892C>G (p.Phe964Leu)
c.3072C>G (p.Phe1024Leu)
c.2739C>G (p.Phe913Leu)
7g.117606747C>TCA457228864CFTRc.2982C>T (p.Phe994=)
c.*2696C>T (n.*2696C>T)
c.2799C>T (p.Phe933=)
c.*1282C>T (n.*1282C>T)
c.*2806C>T (n.*2806C>T)
c.2556C>T (p.Phe852=)
c.573C>T (p.Phe191=)
c.632C>T
c.1764C>T (p.Phe588=)
c.2892C>T (p.Phe964=)
c.3072C>T (p.Phe1024=)
c.2739C>T (p.Phe913=)
 ClinVar gnomAD v4
7g.117606748A=CA1737379794CFTRc.2983A= (p.Ile995=)
c.*2697A= (n.*2697A=)
c.2800A= (p.Ile934=)
c.*1283A= (n.*1283A=)
c.*2807A= (n.*2807A=)
c.2557A= (p.Ile853=)
c.574A= (p.Ile192=)
c.633A=
c.1765A= (p.Ile589=)
c.2893A= (p.Ile965=)
c.3073A= (p.Ile1025=)
c.2740A= (p.Ile914=)
7g.117606748A>CCA4451344CFTRc.2983A>C (p.Ile995Leu)
c.*2697A>C (n.*2697A>C)
c.2800A>C (p.Ile934Leu)
c.*1283A>C (n.*1283A>C)
c.*2807A>C (n.*2807A>C)
c.2557A>C (p.Ile853Leu)
c.574A>C (p.Ile192Leu)
c.633A>C
c.1765A>C (p.Ile589Leu)
c.2893A>C (p.Ile965Leu)
c.3073A>C (p.Ile1025Leu)
c.2740A>C (p.Ile914Leu)
 dbSNP ExAC gnomAD v2
7g.117606748A>GCA368989229CFTRc.2983A>G (p.Ile995Val)
c.*2697A>G (n.*2697A>G)
c.2800A>G (p.Ile934Val)
c.*1283A>G (n.*1283A>G)
c.*2807A>G (n.*2807A>G)
c.2557A>G (p.Ile853Val)
c.574A>G (p.Ile192Val)
c.633A>G
c.1765A>G (p.Ile589Val)
c.2893A>G (p.Ile965Val)
c.3073A>G (p.Ile1025Val)
c.2740A>G (p.Ile914Val)
 gnomAD v4
7g.117606748A>TCA368989231CFTRc.2983A>T (p.Ile995Phe)
c.*2697A>T (n.*2697A>T)
c.2800A>T (p.Ile934Phe)
c.*1283A>T (n.*1283A>T)
c.*2807A>T (n.*2807A>T)
c.2557A>T (p.Ile853Phe)
c.574A>T (p.Ile192Phe)
c.633A>T
c.1765A>T (p.Ile589Phe)
c.2893A>T (p.Ile965Phe)
c.3073A>T (p.Ile1025Phe)
c.2740A>T (p.Ile914Phe)
7g.117606749T>ACA368989234CFTRc.2984T>A (p.Ile995Asn)
c.*2698T>A (n.*2698T>A)
c.2801T>A (p.Ile934Asn)
c.*1284T>A (n.*1284T>A)
c.*2808T>A (n.*2808T>A)
c.2558T>A (p.Ile853Asn)
c.575T>A (p.Ile192Asn)
c.634T>A
c.1766T>A (p.Ile589Asn)
c.2894T>A (p.Ile965Asn)
c.3074T>A (p.Ile1025Asn)
c.2741T>A (p.Ile914Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.117606749T>CCA368989235CFTRc.2984T>C (p.Ile995Thr)
c.*2698T>C (n.*2698T>C)
c.2801T>C (p.Ile934Thr)
c.*1284T>C (n.*1284T>C)
c.*2808T>C (n.*2808T>C)
c.2558T>C (p.Ile853Thr)
c.575T>C (p.Ile192Thr)
c.634T>C
c.1766T>C (p.Ile589Thr)
c.2894T>C (p.Ile965Thr)
c.3074T>C (p.Ile1025Thr)
c.2741T>C (p.Ile914Thr)
 gnomAD v4
7g.117606749T>GCA368989236CFTRc.2984T>G (p.Ile995Ser)
c.*2698T>G (n.*2698T>G)
c.2801T>G (p.Ile934Ser)
c.*1284T>G (n.*1284T>G)
c.*2808T>G (n.*2808T>G)
c.2558T>G (p.Ile853Ser)
c.575T>G (p.Ile192Ser)
c.634T>G
c.1766T>G (p.Ile589Ser)
c.2894T>G (p.Ile965Ser)
c.3074T>G (p.Ile1025Ser)
c.2741T>G (p.Ile914Ser)
7g.117606749T=CA1737379808CFTRc.2984T= (p.Ile995=)
c.*2698T= (n.*2698T=)
c.2801T= (p.Ile934=)
c.*1284T= (n.*1284T=)
c.*2808T= (n.*2808T=)
c.2558T= (p.Ile853=)
c.575T= (p.Ile192=)
c.634T=
c.1766T= (p.Ile589=)
c.2894T= (p.Ile965=)
c.3074T= (p.Ile1025=)
c.2741T= (p.Ile914=)
7g.117606749dupCA913111896CFTRc.2984dup (p.Gln996ProfsTer?)
c.*2698dup (n.*2698dup)
c.2801dup (p.Gln935ProfsTer?)
c.*1284dup (n.*1284dup)
c.*2808dup (n.*2808dup)
c.2558dup (p.Gln854ProfsTer?)
c.575dup (p.Gln193ProfsTer?)
c.634dup
c.1766dup (p.Gln590ProfsTer?)
c.2894dup (p.Gln966ProfsTer?)
c.3074dup (p.Gln1026ProfsTer?)
c.2741dup (p.Gln915ProfsTer?)
7g.117606750C>ACA457228865CFTRc.2985C>A (p.Ile995=)
c.*2699C>A (n.*2699C>A)
c.2802C>A (p.Ile934=)
c.*1285C>A (n.*1285C>A)
c.*2809C>A (n.*2809C>A)
c.2559C>A (p.Ile853=)
c.576C>A (p.Ile192=)
c.635C>A
c.1767C>A (p.Ile589=)
c.2895C>A (p.Ile965=)
c.3075C>A (p.Ile1025=)
c.2742C>A (p.Ile914=)
 gnomAD v4
7g.117606750C>GCA368989238CFTRc.2985C>G (p.Ile995Met)
c.*2699C>G (n.*2699C>G)
c.2802C>G (p.Ile934Met)
c.*1285C>G (n.*1285C>G)
c.*2809C>G (n.*2809C>G)
c.2559C>G (p.Ile853Met)
c.576C>G (p.Ile192Met)
c.635C>G
c.1767C>G (p.Ile589Met)
c.2895C>G (p.Ile965Met)
c.3075C>G (p.Ile1025Met)
c.2742C>G (p.Ile914Met)
7g.117606750C>TCA457228867CFTRc.2985C>T (p.Ile995=)
c.*2699C>T (n.*2699C>T)
c.2802C>T (p.Ile934=)
c.*1285C>T (n.*1285C>T)
c.*2809C>T (n.*2809C>T)
c.2559C>T (p.Ile853=)
c.576C>T (p.Ile192=)
c.635C>T
c.1767C>T (p.Ile589=)
c.2895C>T (p.Ile965=)
c.3075C>T (p.Ile1025=)
c.2742C>T (p.Ile914=)
7g.117606751dupCA658822507CFTRc.2986dup (p.Gln996ProfsTer?)
c.*2700dup (n.*2700dup)
c.2803dup (p.Gln935ProfsTer?)
c.*1286dup (n.*1286dup)
c.*2810dup (n.*2810dup)
c.2560dup (p.Gln854ProfsTer?)
c.577dup (p.Gln193ProfsTer?)
c.636dup
c.1768dup (p.Gln590ProfsTer?)
c.2896dup (p.Gln966ProfsTer?)
c.3076dup (p.Gln1026ProfsTer?)
c.2743dup (p.Gln915ProfsTer?)
 ClinVar dbSNP
7g.117606751delCA2579000332CFTRc.2986del (p.Gln996SerfsTer4)
c.*2700del (n.*2700del)
c.2803del (p.Gln935SerfsTer4)
c.*1286del (n.*1286del)
c.*2810del (n.*2810del)
c.2560del (p.Gln854SerfsTer4)
c.577del (p.Gln193SerfsTer4)
c.636del
c.1768del (p.Gln590SerfsTer4)
c.2896del (p.Gln966SerfsTer4)
c.3076del (p.Gln1026SerfsTer4)
c.2743del (p.Gln915SerfsTer4)
 gnomAD v4
7g.117606751C>ACA368989240CFTRc.2986C>A (p.Gln996Lys)
c.*2700C>A (n.*2700C>A)
c.2803C>A (p.Gln935Lys)
c.*1286C>A (n.*1286C>A)
c.*2810C>A (n.*2810C>A)
c.2560C>A (p.Gln854Lys)
c.577C>A (p.Gln193Lys)
c.636C>A
c.1768C>A (p.Gln590Lys)
c.2896C>A (p.Gln966Lys)
c.3076C>A (p.Gln1026Lys)
c.2743C>A (p.Gln915Lys)
 gnomAD v4
7g.117606751C>GCA368989243CFTRc.2986C>G (p.Gln996Glu)
c.*2700C>G (n.*2700C>G)
c.2803C>G (p.Gln935Glu)
c.*1286C>G (n.*1286C>G)
c.*2810C>G (n.*2810C>G)
c.2560C>G (p.Gln854Glu)
c.577C>G (p.Gln193Glu)
c.636C>G
c.1768C>G (p.Gln590Glu)
c.2896C>G (p.Gln966Glu)
c.3076C>G (p.Gln1026Glu)
c.2743C>G (p.Gln915Glu)
7g.117606751C>TCA368989241CFTRc.2986C>T (p.Gln996Ter)
c.*2700C>T (n.*2700C>T)
c.2803C>T (p.Gln935Ter)
c.*1286C>T (n.*1286C>T)
c.*2810C>T (n.*2810C>T)
c.2560C>T (p.Gln854Ter)
c.577C>T (p.Gln193Ter)
c.636C>T
c.1768C>T (p.Gln590Ter)
c.2896C>T (p.Gln966Ter)
c.3076C>T (p.Gln1026Ter)
c.2743C>T (p.Gln915Ter)
 COSMIC
7g.117606752A>CCA368989246CFTRc.2987A>C (p.Gln996Pro)
c.*2701A>C (n.*2701A>C)
c.2804A>C (p.Gln935Pro)
c.*1287A>C (n.*1287A>C)
c.*2811A>C (n.*2811A>C)
c.2561A>C (p.Gln854Pro)
c.578A>C (p.Gln193Pro)
c.637A>C
c.1769A>C (p.Gln590Pro)
c.2897A>C (p.Gln966Pro)
c.3077A>C (p.Gln1026Pro)
c.2744A>C (p.Gln915Pro)
7g.117606752A>GCA368989249CFTRc.2987A>G (p.Gln996Arg)
c.*2701A>G (n.*2701A>G)
c.2804A>G (p.Gln935Arg)
c.*1287A>G (n.*1287A>G)
c.*2811A>G (n.*2811A>G)
c.2561A>G (p.Gln854Arg)
c.578A>G (p.Gln193Arg)
c.637A>G
c.1769A>G (p.Gln590Arg)
c.2897A>G (p.Gln966Arg)
c.3077A>G (p.Gln1026Arg)
c.2744A>G (p.Gln915Arg)
 gnomAD v4
7g.117606752A>TCA368989247CFTRc.2987A>T (p.Gln996Leu)
c.*2701A>T (n.*2701A>T)
c.2804A>T (p.Gln935Leu)
c.*1287A>T (n.*1287A>T)
c.*2811A>T (n.*2811A>T)
c.2561A>T (p.Gln854Leu)
c.578A>T (p.Gln193Leu)
c.637A>T
c.1769A>T (p.Gln590Leu)
c.2897A>T (p.Gln966Leu)
c.3077A>T (p.Gln1026Leu)
c.2744A>T (p.Gln915Leu)
 gnomAD v4
7g.117606753G>ACA221019CFTRc.2988G>A (p.Gln996=)
c.*2702G>A (n.*2702G>A)
c.2805G>A (p.Gln935=)
c.*1288G>A (n.*1288G>A)
c.*2812G>A (n.*2812G>A)
c.2562G>A (p.Gln854=)
c.579G>A (p.Gln193=)
c.638G>A
c.1770G>A (p.Gln590=)
c.2898G>A (p.Gln966=)
c.3078G>A (p.Gln1026=)
c.2745G>A (p.Gln915=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117606753G>CCA368989252CFTRc.2988G>C (p.Gln996His)
c.*2702G>C (n.*2702G>C)
c.2805G>C (p.Gln935His)
c.*1288G>C (n.*1288G>C)
c.*2812G>C (n.*2812G>C)
c.2562G>C (p.Gln854His)
c.579G>C (p.Gln193His)
c.638G>C
c.1770G>C (p.Gln590His)
c.2898G>C (p.Gln966His)
c.3078G>C (p.Gln1026His)
c.2745G>C (p.Gln915His)
7g.117606753G=CA1737379824CFTRc.2988G= (p.Gln996=)
c.*2702G= (n.*2702G=)
c.2805G= (p.Gln935=)
c.*1288G= (n.*1288G=)
c.*2812G= (n.*2812G=)
c.2562G= (p.Gln854=)
c.579G= (p.Gln193=)
c.638G=
c.1770G= (p.Gln590=)
c.2898G= (p.Gln966=)
c.3078G= (p.Gln1026=)
c.2745G= (p.Gln915=)
7g.117606753G>TCA368989254CFTRc.2988G>T (p.Gln996His)
c.*2702G>T (n.*2702G>T)
c.2805G>T (p.Gln935His)
c.*1288G>T (n.*1288G>T)
c.*2812G>T (n.*2812G>T)
c.2562G>T (p.Gln854His)
c.579G>T (p.Gln193His)
c.638G>T
c.1770G>T (p.Gln590His)
c.2898G>T (p.Gln966His)
c.3078G>T (p.Gln1026His)
c.2745G>T (p.Gln915His)
7g.117606754G>ACA221018CFTRc.2988+1G>A (n.2988+1G>A)
c.*2702+1G>A (n.*2702+1G>A)
c.2805+1G>A (n.2805+1G>A)
c.*1288+1G>A (n.*1288+1G>A)
c.*2812+1G>A (n.*2812+1G>A)
c.2562+1G>A (n.2562+1G>A)
c.579+1G>A (n.579+1G>A)
c.638+1G>A
c.1770+1G>A (n.1770+1G>A)
c.2898+1G>A (n.2898+1G>A)
c.3078+1G>A (n.3078+1G>A)
c.2745+1G>A (n.2745+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606754G>CCA368989257CFTRc.2988+1G>C (n.2988+1G>C)
c.*2702+1G>C (n.*2702+1G>C)
c.2805+1G>C (n.2805+1G>C)
c.*1288+1G>C (n.*1288+1G>C)
c.*2812+1G>C (n.*2812+1G>C)
c.2562+1G>C (n.2562+1G>C)
c.579+1G>C (n.579+1G>C)
c.638+1G>C
c.1770+1G>C (n.1770+1G>C)
c.2898+1G>C (n.2898+1G>C)
c.3078+1G>C (n.3078+1G>C)
c.2745+1G>C (n.2745+1G>C)
 ClinVar dbSNP
7g.117606754G=CA1737379836CFTRc.2988+1G= (n.2988+1G=)
c.*2702+1G= (n.*2702+1G=)
c.2805+1G= (n.2805+1G=)
c.*1288+1G= (n.*1288+1G=)
c.*2812+1G= (n.*2812+1G=)
c.2562+1G= (n.2562+1G=)
c.579+1G= (n.579+1G=)
c.638+1G=
c.1770+1G= (n.1770+1G=)
c.2898+1G= (n.2898+1G=)
c.3078+1G= (n.3078+1G=)
c.2745+1G= (n.2745+1G=)
7g.117606754G>TCA368989259CFTRc.2988+1G>T (n.2988+1G>T)
c.*2702+1G>T (n.*2702+1G>T)
c.2805+1G>T (n.2805+1G>T)
c.*1288+1G>T (n.*1288+1G>T)
c.*2812+1G>T (n.*2812+1G>T)
c.2562+1G>T (n.2562+1G>T)
c.579+1G>T (n.579+1G>T)
c.638+1G>T
c.1770+1G>T (n.1770+1G>T)
c.2898+1G>T (n.2898+1G>T)
c.3078+1G>T (n.3078+1G>T)
c.2745+1G>T (n.2745+1G>T)
 ClinVar dbSNP gnomAD v4
7g.117606755T>ACA368989261CFTRc.2988+2T>A (n.2988+2T>A)
c.*2702+2T>A (n.*2702+2T>A)
c.2805+2T>A (n.2805+2T>A)
c.*1288+2T>A (n.*1288+2T>A)
c.*2812+2T>A (n.*2812+2T>A)
c.2562+2T>A (n.2562+2T>A)
c.579+2T>A (n.579+2T>A)
c.638+2T>A
c.1770+2T>A (n.1770+2T>A)
c.2898+2T>A (n.2898+2T>A)
c.3078+2T>A (n.3078+2T>A)
c.2745+2T>A (n.2745+2T>A)
 gnomAD v4
7g.117606755T>CCA368989263CFTRc.2988+2T>C (n.2988+2T>C)
c.*2702+2T>C (n.*2702+2T>C)
c.2805+2T>C (n.2805+2T>C)
c.*1288+2T>C (n.*1288+2T>C)
c.*2812+2T>C (n.*2812+2T>C)
c.2562+2T>C (n.2562+2T>C)
c.579+2T>C (n.579+2T>C)
c.638+2T>C
c.1770+2T>C (n.1770+2T>C)
c.2898+2T>C (n.2898+2T>C)
c.3078+2T>C (n.3078+2T>C)
c.2745+2T>C (n.2745+2T>C)
 ClinVar dbSNP COSMIC
7g.117606755T>GCA368989264CFTRc.2988+2T>G (n.2988+2T>G)
c.*2702+2T>G (n.*2702+2T>G)
c.2805+2T>G (n.2805+2T>G)
c.*1288+2T>G (n.*1288+2T>G)
c.*2812+2T>G (n.*2812+2T>G)
c.2562+2T>G (n.2562+2T>G)
c.579+2T>G (n.579+2T>G)
c.638+2T>G
c.1770+2T>G (n.1770+2T>G)
c.2898+2T>G (n.2898+2T>G)
c.3078+2T>G (n.3078+2T>G)
c.2745+2T>G (n.2745+2T>G)
 ClinVar dbSNP
7g.117606755T=CA1737379850CFTRc.2988+2T= (n.2988+2T=)
c.*2702+2T= (n.*2702+2T=)
c.2805+2T= (n.2805+2T=)
c.*1288+2T= (n.*1288+2T=)
c.*2812+2T= (n.*2812+2T=)
c.2562+2T= (n.2562+2T=)
c.579+2T= (n.579+2T=)
c.638+2T=
c.1770+2T= (n.1770+2T=)
c.2898+2T= (n.2898+2T=)
c.3078+2T= (n.3078+2T=)
c.2745+2T= (n.2745+2T=)
7g.117606756A>GCA2573052805CFTRc.2988+3A>G (n.2988+3A>G)
c.*2702+3A>G (n.*2702+3A>G)
c.2805+3A>G (n.2805+3A>G)
c.*1288+3A>G (n.*1288+3A>G)
c.*2812+3A>G (n.*2812+3A>G)
c.2562+3A>G (n.2562+3A>G)
c.579+3A>G (n.579+3A>G)
c.638+3A>G
c.1770+3A>G (n.1770+3A>G)
c.2898+3A>G (n.2898+3A>G)
c.3078+3A>G (n.3078+3A>G)
c.2745+3A>G (n.2745+3A>G)
 ClinVar dbSNP gnomAD v4
7g.117606757T>ACA2697557584CFTRc.2988+4T>A (n.2988+4T>A)
c.*2702+4T>A (n.*2702+4T>A)
c.2805+4T>A (n.2805+4T>A)
c.*1288+4T>A (n.*1288+4T>A)
c.*2812+4T>A (n.*2812+4T>A)
c.2562+4T>A (n.2562+4T>A)
c.579+4T>A (n.579+4T>A)
c.638+4T>A
c.1770+4T>A (n.1770+4T>A)
c.2898+4T>A (n.2898+4T>A)
c.3078+4T>A (n.3078+4T>A)
c.2745+4T>A (n.2745+4T>A)
 ClinVar
7g.117606757T>CCA2582341937CFTRc.2988+4T>C (n.2988+4T>C)
c.*2702+4T>C (n.*2702+4T>C)
c.2805+4T>C (n.2805+4T>C)
c.*1288+4T>C (n.*1288+4T>C)
c.*2812+4T>C (n.*2812+4T>C)
c.2562+4T>C (n.2562+4T>C)
c.579+4T>C (n.579+4T>C)
c.638+4T>C
c.1770+4T>C (n.1770+4T>C)
c.2898+4T>C (n.2898+4T>C)
c.3078+4T>C (n.3078+4T>C)
c.2745+4T>C (n.2745+4T>C)
 ClinVar
7g.117606758G>ACA4451345CFTRc.2988+5G>A (n.2988+5G>A)
c.*2702+5G>A (n.*2702+5G>A)
c.2805+5G>A (n.2805+5G>A)
c.*1288+5G>A (n.*1288+5G>A)
c.*2812+5G>A (n.*2812+5G>A)
c.2562+5G>A (n.2562+5G>A)
c.579+5G>A (n.579+5G>A)
c.638+5G>A
c.1770+5G>A (n.1770+5G>A)
c.2898+5G>A (n.2898+5G>A)
c.3078+5G>A (n.3078+5G>A)
c.2745+5G>A (n.2745+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117606758G=CA1737379856CFTRc.2988+5G= (n.2988+5G=)
c.*2702+5G= (n.*2702+5G=)
c.2805+5G= (n.2805+5G=)
c.*1288+5G= (n.*1288+5G=)
c.*2812+5G= (n.*2812+5G=)
c.2562+5G= (n.2562+5G=)
c.579+5G= (n.579+5G=)
c.638+5G=
c.1770+5G= (n.1770+5G=)
c.2898+5G= (n.2898+5G=)
c.3078+5G= (n.3078+5G=)
c.2745+5G= (n.2745+5G=)
7g.117606759delCA2573332343CFTRc.2988+6del (n.2988+6del)
c.*2702+6del (n.*2702+6del)
c.2805+6del (n.2805+6del)
c.*1288+6del (n.*1288+6del)
c.*2812+6del (n.*2812+6del)
c.2562+6del (n.2562+6del)
c.579+6del (n.579+6del)
c.638+6del
c.1770+6del (n.1770+6del)
c.2898+6del (n.2898+6del)
c.3078+6del (n.3078+6del)
c.2745+6del (n.2745+6del)
7g.117606759T>ACA2684588102CFTRc.2988+6T>A (n.2988+6T>A)
c.*2702+6T>A (n.*2702+6T>A)
c.2805+6T>A (n.2805+6T>A)
c.*1288+6T>A (n.*1288+6T>A)
c.*2812+6T>A (n.*2812+6T>A)
c.2562+6T>A (n.2562+6T>A)
c.579+6T>A (n.579+6T>A)
c.638+6T>A
c.1770+6T>A (n.1770+6T>A)
c.2898+6T>A (n.2898+6T>A)
c.3078+6T>A (n.3078+6T>A)
c.2745+6T>A (n.2745+6T>A)
 gnomAD v4
7g.117606759T>CCA2684588103CFTRc.2988+6T>C (n.2988+6T>C)
c.*2702+6T>C (n.*2702+6T>C)
c.2805+6T>C (n.2805+6T>C)
c.*1288+6T>C (n.*1288+6T>C)
c.*2812+6T>C (n.*2812+6T>C)
c.2562+6T>C (n.2562+6T>C)
c.579+6T>C (n.579+6T>C)
c.638+6T>C
c.1770+6T>C (n.1770+6T>C)
c.2898+6T>C (n.2898+6T>C)
c.3078+6T>C (n.3078+6T>C)
c.2745+6T>C (n.2745+6T>C)
 gnomAD v4
7g.117606759T>GCA2684588104CFTRc.2988+6T>G (n.2988+6T>G)
c.*2702+6T>G (n.*2702+6T>G)
c.2805+6T>G (n.2805+6T>G)
c.*1288+6T>G (n.*1288+6T>G)
c.*2812+6T>G (n.*2812+6T>G)
c.2562+6T>G (n.2562+6T>G)
c.579+6T>G (n.579+6T>G)
c.638+6T>G
c.1770+6T>G (n.1770+6T>G)
c.2898+6T>G (n.2898+6T>G)
c.3078+6T>G (n.3078+6T>G)
c.2745+6T>G (n.2745+6T>G)
 gnomAD v4
7g.117606760A>GCA2684588106CFTRc.2988+7A>G (n.2988+7A>G)
c.*2702+7A>G (n.*2702+7A>G)
c.2805+7A>G (n.2805+7A>G)
c.*1288+7A>G (n.*1288+7A>G)
c.*2812+7A>G (n.*2812+7A>G)
c.2562+7A>G (n.2562+7A>G)
c.579+7A>G (n.579+7A>G)
c.638+7A>G
c.1770+7A>G (n.1770+7A>G)
c.2898+7A>G (n.2898+7A>G)
c.3078+7A>G (n.3078+7A>G)
c.2745+7A>G (n.2745+7A>G)
 gnomAD v4
7g.117606764dupCA2684588105CFTRc.2988+11dup (n.2988+11dup)
c.*2702+11dup (n.*2702+11dup)
c.2805+11dup (n.2805+11dup)
c.*1288+11dup (n.*1288+11dup)
c.*2812+11dup (n.*2812+11dup)
c.2562+11dup (n.2562+11dup)
c.579+11dup (n.579+11dup)
c.638+11dup
c.1770+11dup (n.1770+11dup)
c.2898+11dup (n.2898+11dup)
c.3078+11dup (n.3078+11dup)
c.2745+11dup (n.2745+11dup)
 gnomAD v4
7g.117606764delCA2579000333CFTRc.2988+11del (n.2988+11del)
c.*2702+11del (n.*2702+11del)
c.2805+11del (n.2805+11del)
c.*1288+11del (n.*1288+11del)
c.*2812+11del (n.*2812+11del)
c.2562+11del (n.2562+11del)
c.579+11del (n.579+11del)
c.638+11del
c.1770+11del (n.1770+11del)
c.2898+11del (n.2898+11del)
c.3078+11del (n.3078+11del)
c.2745+11del (n.2745+11del)
 gnomAD v4
7g.117606763_117606764delCA2565770606CFTRc.2988+10_2988+11del (n.2988+10_2988+11del)
c.*2702+10_*2702+11del (n.*2702+10_*2702+11del)
c.2805+10_2805+11del (n.2805+10_2805+11del)
c.*1288+10_*1288+11del (n.*1288+10_*1288+11del)
c.*2812+10_*2812+11del (n.*2812+10_*2812+11del)
c.2562+10_2562+11del (n.2562+10_2562+11del)
c.579+10_579+11del (n.579+10_579+11del)
c.638+10_638+11del
c.1770+10_1770+11del (n.1770+10_1770+11del)
c.2898+10_2898+11del (n.2898+10_2898+11del)
c.3078+10_3078+11del (n.3078+10_3078+11del)
c.2745+10_2745+11del (n.2745+10_2745+11del)
7g.117606761A>CCA2684588107CFTRc.2988+8A>C (n.2988+8A>C)
c.*2702+8A>C (n.*2702+8A>C)
c.2805+8A>C (n.2805+8A>C)
c.*1288+8A>C (n.*1288+8A>C)
c.*2812+8A>C (n.*2812+8A>C)
c.2562+8A>C (n.2562+8A>C)
c.579+8A>C (n.579+8A>C)
c.638+8A>C
c.1770+8A>C (n.1770+8A>C)
c.2898+8A>C (n.2898+8A>C)
c.3078+8A>C (n.3078+8A>C)
c.2745+8A>C (n.2745+8A>C)
 gnomAD v4
7g.117606761A>GCA2684588108CFTRc.2988+8A>G (n.2988+8A>G)
c.*2702+8A>G (n.*2702+8A>G)
c.2805+8A>G (n.2805+8A>G)
c.*1288+8A>G (n.*1288+8A>G)
c.*2812+8A>G (n.*2812+8A>G)
c.2562+8A>G (n.2562+8A>G)
c.579+8A>G (n.579+8A>G)
c.638+8A>G
c.1770+8A>G (n.1770+8A>G)
c.2898+8A>G (n.2898+8A>G)
c.3078+8A>G (n.3078+8A>G)
c.2745+8A>G (n.2745+8A>G)
 gnomAD v4
7g.117606762A>GCA2684588111CFTRc.2988+9A>G (n.2988+9A>G)
c.*2702+9A>G (n.*2702+9A>G)
c.2805+9A>G (n.2805+9A>G)
c.*1288+9A>G (n.*1288+9A>G)
c.*2812+9A>G (n.*2812+9A>G)
c.2562+9A>G (n.2562+9A>G)
c.579+9A>G (n.579+9A>G)
c.638+9A>G
c.1770+9A>G (n.1770+9A>G)
c.2898+9A>G (n.2898+9A>G)
c.3078+9A>G (n.3078+9A>G)
c.2745+9A>G (n.2745+9A>G)
 gnomAD v4
7g.117606762A>TCA2580076407CFTRc.2988+9A>T (n.2988+9A>T)
c.*2702+9A>T (n.*2702+9A>T)
c.2805+9A>T (n.2805+9A>T)
c.*1288+9A>T (n.*1288+9A>T)
c.*2812+9A>T (n.*2812+9A>T)
c.2562+9A>T (n.2562+9A>T)
c.579+9A>T (n.579+9A>T)
c.638+9A>T
c.1770+9A>T (n.1770+9A>T)
c.2898+9A>T (n.2898+9A>T)
c.3078+9A>T (n.3078+9A>T)
c.2745+9A>T (n.2745+9A>T)
 ClinVar
7g.117606763A>CCA1616642985CFTRc.2988+10A>C (n.2988+10A>C)
c.*2702+10A>C (n.*2702+10A>C)
c.2805+10A>C (n.2805+10A>C)
c.*1288+10A>C (n.*1288+10A>C)
c.*2812+10A>C (n.*2812+10A>C)
c.2562+10A>C (n.2562+10A>C)
c.579+10A>C (n.579+10A>C)
c.638+10A>C
c.1770+10A>C (n.1770+10A>C)
c.2898+10A>C (n.2898+10A>C)
c.3078+10A>C (n.3078+10A>C)
c.2745+10A>C (n.2745+10A>C)
 ClinVar dbSNP
7g.117606763A>GCA2684588113CFTRc.2988+10A>G (n.2988+10A>G)
c.*2702+10A>G (n.*2702+10A>G)
c.2805+10A>G (n.2805+10A>G)
c.*1288+10A>G (n.*1288+10A>G)
c.*2812+10A>G (n.*2812+10A>G)
c.2562+10A>G (n.2562+10A>G)
c.579+10A>G (n.579+10A>G)
c.638+10A>G
c.1770+10A>G (n.1770+10A>G)
c.2898+10A>G (n.2898+10A>G)
c.3078+10A>G (n.3078+10A>G)
c.2745+10A>G (n.2745+10A>G)
 gnomAD v4
7g.117606764A=CA1737379861CFTRc.2988+11A= (n.2988+11A=)
c.*2702+11A= (n.*2702+11A=)
c.2805+11A= (n.2805+11A=)
c.*1288+11A= (n.*1288+11A=)
c.*2812+11A= (n.*2812+11A=)
c.2562+11A= (n.2562+11A=)
c.579+11A= (n.579+11A=)
c.638+11A=
c.1770+11A= (n.1770+11A=)
c.2898+11A= (n.2898+11A=)
c.3078+11A= (n.3078+11A=)
c.2745+11A= (n.2745+11A=)
7g.117606764A>GCA2684588114CFTRc.2988+11A>G (n.2988+11A>G)
c.*2702+11A>G (n.*2702+11A>G)
c.2805+11A>G (n.2805+11A>G)
c.*1288+11A>G (n.*1288+11A>G)
c.*2812+11A>G (n.*2812+11A>G)
c.2562+11A>G (n.2562+11A>G)
c.579+11A>G (n.579+11A>G)
c.638+11A>G
c.1770+11A>G (n.1770+11A>G)
c.2898+11A>G (n.2898+11A>G)
c.3078+11A>G (n.3078+11A>G)
c.2745+11A>G (n.2745+11A>G)
 gnomAD v4
7g.117606764A>TCA832116060CFTRc.2988+11A>T (n.2988+11A>T)
c.*2702+11A>T (n.*2702+11A>T)
c.2805+11A>T (n.2805+11A>T)
c.*1288+11A>T (n.*1288+11A>T)
c.*2812+11A>T (n.*2812+11A>T)
c.2562+11A>T (n.2562+11A>T)
c.579+11A>T (n.579+11A>T)
c.638+11A>T
c.1770+11A>T (n.1770+11A>T)
c.2898+11A>T (n.2898+11A>T)
c.3078+11A>T (n.3078+11A>T)
c.2745+11A>T (n.2745+11A>T)
 dbSNP gnomAD v3 gnomAD v4
7g.117606766A=CA1737379864CFTRc.2988+13A= (n.2988+13A=)
c.*2702+13A= (n.*2702+13A=)
c.2805+13A= (n.2805+13A=)
c.*1288+13A= (n.*1288+13A=)
c.*2812+13A= (n.*2812+13A=)
c.2562+13A= (n.2562+13A=)
c.579+13A= (n.579+13A=)
c.638+13A=
c.1770+13A= (n.1770+13A=)
c.2898+13A= (n.2898+13A=)
c.3078+13A= (n.3078+13A=)
c.2745+13A= (n.2745+13A=)
7g.117606766A>GCA2684588117CFTRc.2988+13A>G (n.2988+13A>G)
c.*2702+13A>G (n.*2702+13A>G)
c.2805+13A>G (n.2805+13A>G)
c.*1288+13A>G (n.*1288+13A>G)
c.*2812+13A>G (n.*2812+13A>G)
c.2562+13A>G (n.2562+13A>G)
c.579+13A>G (n.579+13A>G)
c.638+13A>G
c.1770+13A>G (n.1770+13A>G)
c.2898+13A>G (n.2898+13A>G)
c.3078+13A>G (n.3078+13A>G)
c.2745+13A>G (n.2745+13A>G)
 gnomAD v4
7g.117606766A>TCA658683496CFTRc.2988+13A>T (n.2988+13A>T)
c.*2702+13A>T (n.*2702+13A>T)
c.2805+13A>T (n.2805+13A>T)
c.*1288+13A>T (n.*1288+13A>T)
c.*2812+13A>T (n.*2812+13A>T)
c.2562+13A>T (n.2562+13A>T)
c.579+13A>T (n.579+13A>T)
c.638+13A>T
c.1770+13A>T (n.1770+13A>T)
c.2898+13A>T (n.2898+13A>T)
c.3078+13A>T (n.3078+13A>T)
c.2745+13A>T (n.2745+13A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117606767A>GCA2684588119CFTRc.2988+14A>G (n.2988+14A>G)
c.*2702+14A>G (n.*2702+14A>G)
c.2805+14A>G (n.2805+14A>G)
c.*1288+14A>G (n.*1288+14A>G)
c.*2812+14A>G (n.*2812+14A>G)
c.2562+14A>G (n.2562+14A>G)
c.579+14A>G (n.579+14A>G)
c.638+14A>G
c.1770+14A>G (n.1770+14A>G)
c.2898+14A>G (n.2898+14A>G)
c.3078+14A>G (n.3078+14A>G)
c.2745+14A>G (n.2745+14A>G)
 gnomAD v4
7g.117606767A>TCA2684588120CFTRc.2988+14A>T (n.2988+14A>T)
c.*2702+14A>T (n.*2702+14A>T)
c.2805+14A>T (n.2805+14A>T)
c.*1288+14A>T (n.*1288+14A>T)
c.*2812+14A>T (n.*2812+14A>T)
c.2562+14A>T (n.2562+14A>T)
c.579+14A>T (n.579+14A>T)
c.638+14A>T
c.1770+14A>T (n.1770+14A>T)
c.2898+14A>T (n.2898+14A>T)
c.3078+14A>T (n.3078+14A>T)
c.2745+14A>T (n.2745+14A>T)
 gnomAD v4
7g.117606768G>ACA2684588121CFTRc.2988+15G>A (n.2988+15G>A)
c.*2702+15G>A (n.*2702+15G>A)
c.2805+15G>A (n.2805+15G>A)
c.*1288+15G>A (n.*1288+15G>A)
c.*2812+15G>A (n.*2812+15G>A)
c.2562+15G>A (n.2562+15G>A)
c.579+15G>A (n.579+15G>A)
c.638+15G>A
c.1770+15G>A (n.1770+15G>A)
c.2898+15G>A (n.2898+15G>A)
c.3078+15G>A (n.3078+15G>A)
c.2745+15G>A (n.2745+15G>A)
 gnomAD v4
7g.117606769T>ACA577222494CFTRc.2988+16T>A (n.2988+16T>A)
c.*2702+16T>A (n.*2702+16T>A)
c.2805+16T>A (n.2805+16T>A)
c.*1288+16T>A (n.*1288+16T>A)
c.*2812+16T>A (n.*2812+16T>A)
c.2562+16T>A (n.2562+16T>A)
c.579+16T>A (n.579+16T>A)
c.638+16T>A
c.1770+16T>A (n.1770+16T>A)
c.2898+16T>A (n.2898+16T>A)
c.3078+16T>A (n.3078+16T>A)
c.2745+16T>A (n.2745+16T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117606769T>CCA577222495CFTRc.2988+16T>C (n.2988+16T>C)
c.*2702+16T>C (n.*2702+16T>C)
c.2805+16T>C (n.2805+16T>C)
c.*1288+16T>C (n.*1288+16T>C)
c.*2812+16T>C (n.*2812+16T>C)
c.2562+16T>C (n.2562+16T>C)
c.579+16T>C (n.579+16T>C)
c.638+16T>C
c.1770+16T>C (n.1770+16T>C)
c.2898+16T>C (n.2898+16T>C)
c.3078+16T>C (n.3078+16T>C)
c.2745+16T>C (n.2745+16T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.117606769T>GCA2684588122CFTRc.2988+16T>G (n.2988+16T>G)
c.*2702+16T>G (n.*2702+16T>G)
c.2805+16T>G (n.2805+16T>G)
c.*1288+16T>G (n.*1288+16T>G)
c.*2812+16T>G (n.*2812+16T>G)
c.2562+16T>G (n.2562+16T>G)
c.579+16T>G (n.579+16T>G)
c.638+16T>G
c.1770+16T>G (n.1770+16T>G)
c.2898+16T>G (n.2898+16T>G)
c.3078+16T>G (n.3078+16T>G)
c.2745+16T>G (n.2745+16T>G)
 gnomAD v4
7g.117606769T=CA1737379868CFTRc.2988+16T= (n.2988+16T=)
c.*2702+16T= (n.*2702+16T=)
c.2805+16T= (n.2805+16T=)
c.*1288+16T= (n.*1288+16T=)
c.*2812+16T= (n.*2812+16T=)
c.2562+16T= (n.2562+16T=)
c.579+16T= (n.579+16T=)
c.638+16T=
c.1770+16T= (n.1770+16T=)
c.2898+16T= (n.2898+16T=)
c.3078+16T= (n.3078+16T=)
c.2745+16T= (n.2745+16T=)
7g.117606770A>GCA2684588123CFTRc.2988+17A>G (n.2988+17A>G)
c.*2702+17A>G (n.*2702+17A>G)
c.2805+17A>G (n.2805+17A>G)
c.*1288+17A>G (n.*1288+17A>G)
c.*2812+17A>G (n.*2812+17A>G)
c.2562+17A>G (n.2562+17A>G)
c.579+17A>G (n.579+17A>G)
c.638+17A>G
c.1770+17A>G (n.1770+17A>G)
c.2898+17A>G (n.2898+17A>G)
c.3078+17A>G (n.3078+17A>G)
c.2745+17A>G (n.2745+17A>G)
 gnomAD v4
7g.117606771C>ACA1737379874CFTRc.2988+18C>A (n.2988+18C>A)
c.*2702+18C>A (n.*2702+18C>A)
c.2805+18C>A (n.2805+18C>A)
c.*1288+18C>A (n.*1288+18C>A)
c.*2812+18C>A (n.*2812+18C>A)
c.2562+18C>A (n.2562+18C>A)
c.579+18C>A (n.579+18C>A)
c.638+18C>A
c.1770+18C>A (n.1770+18C>A)
c.2898+18C>A (n.2898+18C>A)
c.3078+18C>A (n.3078+18C>A)
c.2745+18C>A (n.2745+18C>A)
 dbSNP gnomAD v4
7g.117606771C=CA1737379872CFTRc.2988+18C= (n.2988+18C=)
c.*2702+18C= (n.*2702+18C=)
c.2805+18C= (n.2805+18C=)
c.*1288+18C= (n.*1288+18C=)
c.*2812+18C= (n.*2812+18C=)
c.2562+18C= (n.2562+18C=)
c.579+18C= (n.579+18C=)
c.638+18C=
c.1770+18C= (n.1770+18C=)
c.2898+18C= (n.2898+18C=)
c.3078+18C= (n.3078+18C=)
c.2745+18C= (n.2745+18C=)
7g.117606771C>TCA2684588124CFTRc.2988+18C>T (n.2988+18C>T)
c.*2702+18C>T (n.*2702+18C>T)
c.2805+18C>T (n.2805+18C>T)
c.*1288+18C>T (n.*1288+18C>T)
c.*2812+18C>T (n.*2812+18C>T)
c.2562+18C>T (n.2562+18C>T)
c.579+18C>T (n.579+18C>T)
c.638+18C>T
c.1770+18C>T (n.1770+18C>T)
c.2898+18C>T (n.2898+18C>T)
c.3078+18C>T (n.3078+18C>T)
c.2745+18C>T (n.2745+18C>T)
 gnomAD v4
7g.117606772C>ACA2684588125CFTRc.2988+19C>A (n.2988+19C>A)
c.*2702+19C>A (n.*2702+19C>A)
c.2805+19C>A (n.2805+19C>A)
c.*1288+19C>A (n.*1288+19C>A)
c.*2812+19C>A (n.*2812+19C>A)
c.2562+19C>A (n.2562+19C>A)
c.579+19C>A (n.579+19C>A)
c.638+19C>A
c.1770+19C>A (n.1770+19C>A)
c.2898+19C>A (n.2898+19C>A)
c.3078+19C>A (n.3078+19C>A)
c.2745+19C>A (n.2745+19C>A)
 gnomAD v4
7g.117606772C=CA1737379879CFTRc.2988+19C= (n.2988+19C=)
c.*2702+19C= (n.*2702+19C=)
c.2805+19C= (n.2805+19C=)
c.*1288+19C= (n.*1288+19C=)
c.*2812+19C= (n.*2812+19C=)
c.2562+19C= (n.2562+19C=)
c.579+19C= (n.579+19C=)
c.638+19C=
c.1770+19C= (n.1770+19C=)
c.2898+19C= (n.2898+19C=)
c.3078+19C= (n.3078+19C=)
c.2745+19C= (n.2745+19C=)
7g.117606772C>GCA577222496CFTRc.2988+19C>G (n.2988+19C>G)
c.*2702+19C>G (n.*2702+19C>G)
c.2805+19C>G (n.2805+19C>G)
c.*1288+19C>G (n.*1288+19C>G)
c.*2812+19C>G (n.*2812+19C>G)
c.2562+19C>G (n.2562+19C>G)
c.579+19C>G (n.579+19C>G)
c.638+19C>G
c.1770+19C>G (n.1770+19C>G)
c.2898+19C>G (n.2898+19C>G)
c.3078+19C>G (n.3078+19C>G)
c.2745+19C>G (n.2745+19C>G)
 dbSNP gnomAD v2 gnomAD v4
7g.117606772C>TCA4451346CFTRc.2988+19C>T (n.2988+19C>T)
c.*2702+19C>T (n.*2702+19C>T)
c.2805+19C>T (n.2805+19C>T)
c.*1288+19C>T (n.*1288+19C>T)
c.*2812+19C>T (n.*2812+19C>T)
c.2562+19C>T (n.2562+19C>T)
c.579+19C>T (n.579+19C>T)
c.638+19C>T
c.1770+19C>T (n.1770+19C>T)
c.2898+19C>T (n.2898+19C>T)
c.3078+19C>T (n.3078+19C>T)
c.2745+19C>T (n.2745+19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117606773G>ACA4451347CFTRc.2988+20G>A (n.2988+20G>A)
c.*2702+20G>A (n.*2702+20G>A)
c.2805+20G>A (n.2805+20G>A)
c.*1288+20G>A (n.*1288+20G>A)
c.*2812+20G>A (n.*2812+20G>A)
c.2562+20G>A (n.2562+20G>A)
c.579+20G>A (n.579+20G>A)
c.638+20G>A
c.1770+20G>A (n.1770+20G>A)
c.2898+20G>A (n.2898+20G>A)
c.3078+20G>A (n.3078+20G>A)
c.2745+20G>A (n.2745+20G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606773G=CA1737379885CFTRc.2988+20G= (n.2988+20G=)
c.*2702+20G= (n.*2702+20G=)
c.2805+20G= (n.2805+20G=)
c.*1288+20G= (n.*1288+20G=)
c.*2812+20G= (n.*2812+20G=)
c.2562+20G= (n.2562+20G=)
c.579+20G= (n.579+20G=)
c.638+20G=
c.1770+20G= (n.1770+20G=)
c.2898+20G= (n.2898+20G=)
c.3078+20G= (n.3078+20G=)
c.2745+20G= (n.2745+20G=)
7g.117606773G>TCA2684588126CFTRc.2988+20G>T (n.2988+20G>T)
c.*2702+20G>T (n.*2702+20G>T)
c.2805+20G>T (n.2805+20G>T)
c.*1288+20G>T (n.*1288+20G>T)
c.*2812+20G>T (n.*2812+20G>T)
c.2562+20G>T (n.2562+20G>T)
c.579+20G>T (n.579+20G>T)
c.638+20G>T
c.1770+20G>T (n.1770+20G>T)
c.2898+20G>T (n.2898+20G>T)
c.3078+20G>T (n.3078+20G>T)
c.2745+20G>T (n.2745+20G>T)
 ClinVar gnomAD v4
7g.117606774T>ACA2684588129CFTRc.2988+21T>A (n.2988+21T>A)
c.*2702+21T>A (n.*2702+21T>A)
c.2805+21T>A (n.2805+21T>A)
c.*1288+21T>A (n.*1288+21T>A)
c.*2812+21T>A (n.*2812+21T>A)
c.2562+21T>A (n.2562+21T>A)
c.579+21T>A (n.579+21T>A)
c.638+21T>A
c.1770+21T>A (n.1770+21T>A)
c.2898+21T>A (n.2898+21T>A)
c.3078+21T>A (n.3078+21T>A)
c.2745+21T>A (n.2745+21T>A)
 gnomAD v4
7g.117606774T>CCA2684588128CFTRc.2988+21T>C (n.2988+21T>C)
c.*2702+21T>C (n.*2702+21T>C)
c.2805+21T>C (n.2805+21T>C)
c.*1288+21T>C (n.*1288+21T>C)
c.*2812+21T>C (n.*2812+21T>C)
c.2562+21T>C (n.2562+21T>C)
c.579+21T>C (n.579+21T>C)
c.638+21T>C
c.1770+21T>C (n.1770+21T>C)
c.2898+21T>C (n.2898+21T>C)
c.3078+21T>C (n.3078+21T>C)
c.2745+21T>C (n.2745+21T>C)
 gnomAD v4
7g.117606775delCA2684588127CFTRc.2988+22del (n.2988+22del)
c.*2702+22del (n.*2702+22del)
c.2805+22del (n.2805+22del)
c.*1288+22del (n.*1288+22del)
c.*2812+22del (n.*2812+22del)
c.2562+22del (n.2562+22del)
c.579+22del (n.579+22del)
c.638+22del
c.1770+22del (n.1770+22del)
c.2898+22del (n.2898+22del)
c.3078+22del (n.3078+22del)
c.2745+22del (n.2745+22del)
 gnomAD v4
7g.117606775T>ACA2684588130CFTRc.2988+22T>A (n.2988+22T>A)
c.*2702+22T>A (n.*2702+22T>A)
c.2805+22T>A (n.2805+22T>A)
c.*1288+22T>A (n.*1288+22T>A)
c.*2812+22T>A (n.*2812+22T>A)
c.2562+22T>A (n.2562+22T>A)
c.579+22T>A (n.579+22T>A)
c.638+22T>A
c.1770+22T>A (n.1770+22T>A)
c.2898+22T>A (n.2898+22T>A)
c.3078+22T>A (n.3078+22T>A)
c.2745+22T>A (n.2745+22T>A)
 gnomAD v4
7g.117606775T>CCA2684588131CFTRc.2988+22T>C (n.2988+22T>C)
c.*2702+22T>C (n.*2702+22T>C)
c.2805+22T>C (n.2805+22T>C)
c.*1288+22T>C (n.*1288+22T>C)
c.*2812+22T>C (n.*2812+22T>C)
c.2562+22T>C (n.2562+22T>C)
c.579+22T>C (n.579+22T>C)
c.638+22T>C
c.1770+22T>C (n.1770+22T>C)
c.2898+22T>C (n.2898+22T>C)
c.3078+22T>C (n.3078+22T>C)
c.2745+22T>C (n.2745+22T>C)
 gnomAD v4
7g.117606776A>GCA2684588132CFTRc.2988+23A>G (n.2988+23A>G)
c.*2702+23A>G (n.*2702+23A>G)
c.2805+23A>G (n.2805+23A>G)
c.*1288+23A>G (n.*1288+23A>G)
c.*2812+23A>G (n.*2812+23A>G)
c.2562+23A>G (n.2562+23A>G)
c.579+23A>G (n.579+23A>G)
c.638+23A>G
c.1770+23A>G (n.1770+23A>G)
c.2898+23A>G (n.2898+23A>G)
c.3078+23A>G (n.3078+23A>G)
c.2745+23A>G (n.2745+23A>G)
 gnomAD v4
7g.117606776A>TCA2579000334CFTRc.2988+23A>T (n.2988+23A>T)
c.*2702+23A>T (n.*2702+23A>T)
c.2805+23A>T (n.2805+23A>T)
c.*1288+23A>T (n.*1288+23A>T)
c.*2812+23A>T (n.*2812+23A>T)
c.2562+23A>T (n.2562+23A>T)
c.579+23A>T (n.579+23A>T)
c.638+23A>T
c.1770+23A>T (n.1770+23A>T)
c.2898+23A>T (n.2898+23A>T)
c.3078+23A>T (n.3078+23A>T)
c.2745+23A>T (n.2745+23A>T)

Number of alleles fetched