Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117602152_117612006del | CA325806 | CFTR | c.2620-674_3367+198del c.*2334-674_*3081+198del c.2437-674_3184+198del c.*920-674_*1667+198del c.*2444-674_*3191+198del c.2194-674_2941+198del c.211-674_958+198del c.270-674_1017+198del c.1402-674_2149+198del c.2530-674_3277+198del c.2710-674_3457+198del c.2377-674_3124+198del | |
7 | g.117602152_117612040del | CA2499218685 | CFTR | c.2620-674_3367+232del c.*2334-674_*3081+232del c.2437-674_3184+232del c.*920-674_*1667+232del c.*2444-674_*3191+232del c.2194-674_2941+232del c.211-674_958+232del c.270-674_1017+232del c.1402-674_2149+232del c.2530-674_3277+232del c.2710-674_3457+232del c.2377-674_3124+232del | ClinVar |
7 | g.117603636dup | CA1737374883 | CFTR | c.2762dup (p.Val922SerfsTer?) c.*2476dup (n.*2476dup) c.2579dup (p.Val861SerfsTer?) c.*1062dup (n.*1062dup) c.*2586dup (n.*2586dup) c.2336dup (p.Val780SerfsTer?) c.353dup (p.Val119SerfsTer?) c.412dup c.1544dup (p.Val516SerfsTer?) c.2672dup (p.Val892SerfsTer?) c.2852dup (p.Val952SerfsTer?) c.2519dup (p.Val841SerfsTer?) | dbSNP |
7 | g.117603636del | CA4451283 | CFTR | c.2762del (p.Gly921GlufsTer2) c.*2476del (n.*2476del) c.2579del (p.Gly860GlufsTer2) c.*1062del (n.*1062del) c.*2586del (n.*2586del) c.2336del (p.Gly779GlufsTer2) c.353del (p.Gly118GlufsTer2) c.412del c.1544del (p.Gly515GlufsTer2) c.2672del (p.Gly891GlufsTer2) c.2852del (p.Gly951GlufsTer2) c.2519del (p.Gly840GlufsTer2) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603636G>A | CA260220 | CFTR | c.2762G>A (p.Gly921Glu) c.*2476G>A (n.*2476G>A) c.2579G>A (p.Gly860Glu) c.*1062G>A (n.*1062G>A) c.*2586G>A (n.*2586G>A) c.2336G>A (p.Gly779Glu) c.353G>A (p.Gly118Glu) c.412G>A c.1544G>A (p.Gly515Glu) c.2672G>A (p.Gly891Glu) c.2852G>A (p.Gly951Glu) c.2519G>A (p.Gly840Glu) | ClinVar dbSNP gnomAD v2 COSMIC |
7 | g.117603636G>C | CA368986682 | CFTR | c.2762G>C (p.Gly921Ala) c.*2476G>C (n.*2476G>C) c.2579G>C (p.Gly860Ala) c.*1062G>C (n.*1062G>C) c.*2586G>C (n.*2586G>C) c.2336G>C (p.Gly779Ala) c.353G>C (p.Gly118Ala) c.412G>C c.1544G>C (p.Gly515Ala) c.2672G>C (p.Gly891Ala) c.2852G>C (p.Gly951Ala) c.2519G>C (p.Gly840Ala) | gnomAD v4 |
7 | g.117603636G= | CA1737374898 | CFTR | c.2762G= (p.Gly921=) c.*2476G= (n.*2476G=) c.2579G= (p.Gly860=) c.*1062G= (n.*1062G=) c.*2586G= (n.*2586G=) c.2336G= (p.Gly779=) c.353G= (p.Gly118=) c.412G= c.1544G= (p.Gly515=) c.2672G= (p.Gly891=) c.2852G= (p.Gly951=) c.2519G= (p.Gly840=) | |
7 | g.117603636G>T | CA368986685 | CFTR | c.2762G>T (p.Gly921Val) c.*2476G>T (n.*2476G>T) c.2579G>T (p.Gly860Val) c.*1062G>T (n.*1062G>T) c.*2586G>T (n.*2586G>T) c.2336G>T (p.Gly779Val) c.353G>T (p.Gly118Val) c.412G>T c.1544G>T (p.Gly515Val) c.2672G>T (p.Gly891Val) c.2852G>T (p.Gly951Val) c.2519G>T (p.Gly840Val) | ClinVar dbSNP |
7 | g.117603637_117603638dup | CA326920 | CFTR | c.2763_2764dup (p.Val922GlufsTer2) c.*2477_*2478dup (n.*2477_*2478dup) c.2580_2581dup (p.Val861GlufsTer2) c.*1063_*1064dup (n.*1063_*1064dup) c.*2587_*2588dup (n.*2587_*2588dup) c.2337_2338dup (p.Val780GlufsTer2) c.354_355dup (p.Val119GlufsTer2) c.413_414dup c.1545_1546dup (p.Val516GlufsTer2) c.2673_2674dup (p.Val892GlufsTer2) c.2853_2854dup (p.Val952GlufsTer2) c.2520_2521dup (p.Val841GlufsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603637A>C | CA457227955 | CFTR | c.2763A>C (p.Gly921=) c.*2477A>C (n.*2477A>C) c.2580A>C (p.Gly860=) c.*1063A>C (n.*1063A>C) c.*2587A>C (n.*2587A>C) c.2337A>C (p.Gly779=) c.354A>C (p.Gly118=) c.413A>C c.1545A>C (p.Gly515=) c.2673A>C (p.Gly891=) c.2853A>C (p.Gly951=) c.2520A>C (p.Gly840=) | |
7 | g.117603637A>G | CA457227956 | CFTR | c.2763A>G (p.Gly921=) c.*2477A>G (n.*2477A>G) c.2580A>G (p.Gly860=) c.*1063A>G (n.*1063A>G) c.*2587A>G (n.*2587A>G) c.2337A>G (p.Gly779=) c.354A>G (p.Gly118=) c.413A>G c.1545A>G (p.Gly515=) c.2673A>G (p.Gly891=) c.2853A>G (p.Gly951=) c.2520A>G (p.Gly840=) | |
7 | g.117603637A>T | CA457227957 | CFTR | c.2763A>T (p.Gly921=) c.*2477A>T (n.*2477A>T) c.2580A>T (p.Gly860=) c.*1063A>T (n.*1063A>T) c.*2587A>T (n.*2587A>T) c.2337A>T (p.Gly779=) c.354A>T (p.Gly118=) c.413A>T c.1545A>T (p.Gly515=) c.2673A>T (p.Gly891=) c.2853A>T (p.Gly951=) c.2520A>T (p.Gly840=) | |
7 | g.117603638G>A | CA368986694 | CFTR | c.2764G>A (p.Val922Ile) c.*2478G>A (n.*2478G>A) c.2581G>A (p.Val861Ile) c.*1064G>A (n.*1064G>A) c.*2588G>A (n.*2588G>A) c.2338G>A (p.Val780Ile) c.355G>A (p.Val119Ile) c.414G>A c.1546G>A (p.Val516Ile) c.2674G>A (p.Val892Ile) c.2854G>A (p.Val952Ile) c.2521G>A (p.Val841Ile) | ClinVar dbSNP COSMIC |
7 | g.117603638G>C | CA368986689 | CFTR | c.2764G>C (p.Val922Leu) c.*2478G>C (n.*2478G>C) c.2581G>C (p.Val861Leu) c.*1064G>C (n.*1064G>C) c.*2588G>C (n.*2588G>C) c.2338G>C (p.Val780Leu) c.355G>C (p.Val119Leu) c.414G>C c.1546G>C (p.Val516Leu) c.2674G>C (p.Val892Leu) c.2854G>C (p.Val952Leu) c.2521G>C (p.Val841Leu) | ClinVar gnomAD v4 |
7 | g.117603638G= | CA1737374900 | CFTR | c.2764G= (p.Val922=) c.*2478G= (n.*2478G=) c.2581G= (p.Val861=) c.*1064G= (n.*1064G=) c.*2588G= (n.*2588G=) c.2338G= (p.Val780=) c.355G= (p.Val119=) c.414G= c.1546G= (p.Val516=) c.2674G= (p.Val892=) c.2854G= (p.Val952=) c.2521G= (p.Val841=) | |
7 | g.117603638G>T | CA368986692 | CFTR | c.2764G>T (p.Val922Leu) c.*2478G>T (n.*2478G>T) c.2581G>T (p.Val861Leu) c.*1064G>T (n.*1064G>T) c.*2588G>T (n.*2588G>T) c.2338G>T (p.Val780Leu) c.355G>T (p.Val119Leu) c.414G>T c.1546G>T (p.Val516Leu) c.2674G>T (p.Val892Leu) c.2854G>T (p.Val952Leu) c.2521G>T (p.Val841Leu) | |
7 | g.117603639T>A | CA368986697 | CFTR | c.2765T>A (p.Val922Glu) c.*2479T>A (n.*2479T>A) c.2582T>A (p.Val861Glu) c.*1065T>A (n.*1065T>A) c.*2589T>A (n.*2589T>A) c.2339T>A (p.Val780Glu) c.356T>A (p.Val119Glu) c.415T>A c.1547T>A (p.Val516Glu) c.2675T>A (p.Val892Glu) c.2855T>A (p.Val952Glu) c.2522T>A (p.Val841Glu) | |
7 | g.117603639T>C | CA368986699 | CFTR | c.2765T>C (p.Val922Ala) c.*2479T>C (n.*2479T>C) c.2582T>C (p.Val861Ala) c.*1065T>C (n.*1065T>C) c.*2589T>C (n.*2589T>C) c.2339T>C (p.Val780Ala) c.356T>C (p.Val119Ala) c.415T>C c.1547T>C (p.Val516Ala) c.2675T>C (p.Val892Ala) c.2855T>C (p.Val952Ala) c.2522T>C (p.Val841Ala) | |
7 | g.117603639T>G | CA368986702 | CFTR | c.2765T>G (p.Val922Gly) c.*2479T>G (n.*2479T>G) c.2582T>G (p.Val861Gly) c.*1065T>G (n.*1065T>G) c.*2589T>G (n.*2589T>G) c.2339T>G (p.Val780Gly) c.356T>G (p.Val119Gly) c.415T>G c.1547T>G (p.Val516Gly) c.2675T>G (p.Val892Gly) c.2855T>G (p.Val952Gly) c.2522T>G (p.Val841Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603639T= | CA1737374907 | CFTR | c.2765T= (p.Val922=) c.*2479T= (n.*2479T=) c.2582T= (p.Val861=) c.*1065T= (n.*1065T=) c.*2589T= (n.*2589T=) c.2339T= (p.Val780=) c.356T= (p.Val119=) c.415T= c.1547T= (p.Val516=) c.2675T= (p.Val892=) c.2855T= (p.Val952=) c.2522T= (p.Val841=) | |
7 | g.117603640A= | CA1737374915 | CFTR | c.2766A= (p.Val922=) c.*2480A= (n.*2480A=) c.2583A= (p.Val861=) c.*1066A= (n.*1066A=) c.*2590A= (n.*2590A=) c.2340A= (p.Val780=) c.357A= (p.Val119=) c.416A= c.1548A= (p.Val516=) c.2676A= (p.Val892=) c.2856A= (p.Val952=) c.2523A= (p.Val841=) | |
7 | g.117603640A>C | CA457227958 | CFTR | c.2766A>C (p.Val922=) c.*2480A>C (n.*2480A>C) c.2583A>C (p.Val861=) c.*1066A>C (n.*1066A>C) c.*2590A>C (n.*2590A>C) c.2340A>C (p.Val780=) c.357A>C (p.Val119=) c.416A>C c.1548A>C (p.Val516=) c.2676A>C (p.Val892=) c.2856A>C (p.Val952=) c.2523A>C (p.Val841=) | |
7 | g.117603640A>G | CA4451285 | CFTR | c.2766A>G (p.Val922=) c.*2480A>G (n.*2480A>G) c.2583A>G (p.Val861=) c.*1066A>G (n.*1066A>G) c.*2590A>G (n.*2590A>G) c.2340A>G (p.Val780=) c.357A>G (p.Val119=) c.416A>G c.1548A>G (p.Val516=) c.2676A>G (p.Val892=) c.2856A>G (p.Val952=) c.2523A>G (p.Val841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603640A>T | CA457227959 | CFTR | c.2766A>T (p.Val922=) c.*2480A>T (n.*2480A>T) c.2583A>T (p.Val861=) c.*1066A>T (n.*1066A>T) c.*2590A>T (n.*2590A>T) c.2340A>T (p.Val780=) c.357A>T (p.Val119=) c.416A>T c.1548A>T (p.Val516=) c.2676A>T (p.Val892=) c.2856A>T (p.Val952=) c.2523A>T (p.Val841=) | |
7 | g.117603641G>A | CA368986708 | CFTR | c.2767G>A (p.Ala923Thr) c.*2481G>A (n.*2481G>A) c.2584G>A (p.Ala862Thr) c.*1067G>A (n.*1067G>A) c.*2591G>A (n.*2591G>A) c.2341G>A (p.Ala781Thr) c.358G>A (p.Ala120Thr) c.417G>A c.1549G>A (p.Ala517Thr) c.2677G>A (p.Ala893Thr) c.2857G>A (p.Ala953Thr) c.2524G>A (p.Ala842Thr) | |
7 | g.117603641G>C | CA368986710 | CFTR | c.2767G>C (p.Ala923Pro) c.*2481G>C (n.*2481G>C) c.2584G>C (p.Ala862Pro) c.*1067G>C (n.*1067G>C) c.*2591G>C (n.*2591G>C) c.2341G>C (p.Ala781Pro) c.358G>C (p.Ala120Pro) c.417G>C c.1549G>C (p.Ala517Pro) c.2677G>C (p.Ala893Pro) c.2857G>C (p.Ala953Pro) c.2524G>C (p.Ala842Pro) | |
7 | g.117603641G>T | CA368986713 | CFTR | c.2767G>T (p.Ala923Ser) c.*2481G>T (n.*2481G>T) c.2584G>T (p.Ala862Ser) c.*1067G>T (n.*1067G>T) c.*2591G>T (n.*2591G>T) c.2341G>T (p.Ala781Ser) c.358G>T (p.Ala120Ser) c.417G>T c.1549G>T (p.Ala517Ser) c.2677G>T (p.Ala893Ser) c.2857G>T (p.Ala953Ser) c.2524G>T (p.Ala842Ser) | |
7 | g.117603642C>A | CA260222 | CFTR | c.2768C>A (p.Ala923Asp) c.*2482C>A (n.*2482C>A) c.2585C>A (p.Ala862Asp) c.*1068C>A (n.*1068C>A) c.*2592C>A (n.*2592C>A) c.2342C>A (p.Ala781Asp) c.359C>A (p.Ala120Asp) c.418C>A c.1550C>A (p.Ala517Asp) c.2678C>A (p.Ala893Asp) c.2858C>A (p.Ala953Asp) c.2525C>A (p.Ala842Asp) | ClinVar dbSNP |
7 | g.117603642C= | CA1737374927 | CFTR | c.2768C= (p.Ala923=) c.*2482C= (n.*2482C=) c.2585C= (p.Ala862=) c.*1068C= (n.*1068C=) c.*2592C= (n.*2592C=) c.2342C= (p.Ala781=) c.359C= (p.Ala120=) c.418C= c.1550C= (p.Ala517=) c.2678C= (p.Ala893=) c.2858C= (p.Ala953=) c.2525C= (p.Ala842=) | |
7 | g.117603642C>G | CA368986716 | CFTR | c.2768C>G (p.Ala923Gly) c.*2482C>G (n.*2482C>G) c.2585C>G (p.Ala862Gly) c.*1068C>G (n.*1068C>G) c.*2592C>G (n.*2592C>G) c.2342C>G (p.Ala781Gly) c.359C>G (p.Ala120Gly) c.418C>G c.1550C>G (p.Ala517Gly) c.2678C>G (p.Ala893Gly) c.2858C>G (p.Ala953Gly) c.2525C>G (p.Ala842Gly) | gnomAD v4 |
7 | g.117603642C>T | CA368986719 | CFTR | c.2768C>T (p.Ala923Val) c.*2482C>T (n.*2482C>T) c.2585C>T (p.Ala862Val) c.*1068C>T (n.*1068C>T) c.*2592C>T (n.*2592C>T) c.2342C>T (p.Ala781Val) c.359C>T (p.Ala120Val) c.418C>T c.1550C>T (p.Ala517Val) c.2678C>T (p.Ala893Val) c.2858C>T (p.Ala953Val) c.2525C>T (p.Ala842Val) | |
7 | g.117603643C>A | CA457227960 | CFTR | c.2769C>A (p.Ala923=) c.*2483C>A (n.*2483C>A) c.2586C>A (p.Ala862=) c.*1069C>A (n.*1069C>A) c.*2593C>A (n.*2593C>A) c.2343C>A (p.Ala781=) c.360C>A (p.Ala120=) c.419C>A c.1551C>A (p.Ala517=) c.2679C>A (p.Ala893=) c.2859C>A (p.Ala953=) c.2526C>A (p.Ala842=) | |
7 | g.117603643C= | CA1737374934 | CFTR | c.2769C= (p.Ala923=) c.*2483C= (n.*2483C=) c.2586C= (p.Ala862=) c.*1069C= (n.*1069C=) c.*2593C= (n.*2593C=) c.2343C= (p.Ala781=) c.360C= (p.Ala120=) c.419C= c.1551C= (p.Ala517=) c.2679C= (p.Ala893=) c.2859C= (p.Ala953=) c.2526C= (p.Ala842=) | |
7 | g.117603643C>G | CA457227961 | CFTR | c.2769C>G (p.Ala923=) c.*2483C>G (n.*2483C>G) c.2586C>G (p.Ala862=) c.*1069C>G (n.*1069C>G) c.*2593C>G (n.*2593C>G) c.2343C>G (p.Ala781=) c.360C>G (p.Ala120=) c.419C>G c.1551C>G (p.Ala517=) c.2679C>G (p.Ala893=) c.2859C>G (p.Ala953=) c.2526C>G (p.Ala842=) | |
7 | g.117603643C>T | CA221014 | CFTR | c.2769C>T (p.Ala923=) c.*2483C>T (n.*2483C>T) c.2586C>T (p.Ala862=) c.*1069C>T (n.*1069C>T) c.*2593C>T (n.*2593C>T) c.2343C>T (p.Ala781=) c.360C>T (p.Ala120=) c.419C>T c.1551C>T (p.Ala517=) c.2679C>T (p.Ala893=) c.2859C>T (p.Ala953=) c.2526C>T (p.Ala842=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603644G>A | CA326923 | CFTR | c.2770G>A (p.Asp924Asn) c.*2484G>A (n.*2484G>A) c.2587G>A (p.Asp863Asn) c.*1070G>A (n.*1070G>A) c.*2594G>A (n.*2594G>A) c.2344G>A (p.Asp782Asn) c.361G>A (p.Asp121Asn) c.420G>A c.1552G>A (p.Asp518Asn) c.2680G>A (p.Asp894Asn) c.2860G>A (p.Asp954Asn) c.2527G>A (p.Asp843Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117603644G>C | CA368986725 | CFTR | c.2770G>C (p.Asp924His) c.*2484G>C (n.*2484G>C) c.2587G>C (p.Asp863His) c.*1070G>C (n.*1070G>C) c.*2594G>C (n.*2594G>C) c.2344G>C (p.Asp782His) c.361G>C (p.Asp121His) c.420G>C c.1552G>C (p.Asp518His) c.2680G>C (p.Asp894His) c.2860G>C (p.Asp954His) c.2527G>C (p.Asp843His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603644G= | CA1737374942 | CFTR | c.2770G= (p.Asp924=) c.*2484G= (n.*2484G=) c.2587G= (p.Asp863=) c.*1070G= (n.*1070G=) c.*2594G= (n.*2594G=) c.2344G= (p.Asp782=) c.361G= (p.Asp121=) c.420G= c.1552G= (p.Asp518=) c.2680G= (p.Asp894=) c.2860G= (p.Asp954=) c.2527G= (p.Asp843=) | |
7 | g.117603644G>T | CA368986723 | CFTR | c.2770G>T (p.Asp924Tyr) c.*2484G>T (n.*2484G>T) c.2587G>T (p.Asp863Tyr) c.*1070G>T (n.*1070G>T) c.*2594G>T (n.*2594G>T) c.2344G>T (p.Asp782Tyr) c.361G>T (p.Asp121Tyr) c.420G>T c.1552G>T (p.Asp518Tyr) c.2680G>T (p.Asp894Tyr) c.2860G>T (p.Asp954Tyr) c.2527G>T (p.Asp843Tyr) | gnomAD v4 |
7 | g.117603645A>C | CA368986727 | CFTR | c.2771A>C (p.Asp924Ala) c.*2485A>C (n.*2485A>C) c.2588A>C (p.Asp863Ala) c.*1071A>C (n.*1071A>C) c.*2595A>C (n.*2595A>C) c.2345A>C (p.Asp782Ala) c.362A>C (p.Asp121Ala) c.421A>C c.1553A>C (p.Asp518Ala) c.2681A>C (p.Asp894Ala) c.2861A>C (p.Asp954Ala) c.2528A>C (p.Asp843Ala) | |
7 | g.117603645A>G | CA368986729 | CFTR | c.2771A>G (p.Asp924Gly) c.*2485A>G (n.*2485A>G) c.2588A>G (p.Asp863Gly) c.*1071A>G (n.*1071A>G) c.*2595A>G (n.*2595A>G) c.2345A>G (p.Asp782Gly) c.362A>G (p.Asp121Gly) c.421A>G c.1553A>G (p.Asp518Gly) c.2681A>G (p.Asp894Gly) c.2861A>G (p.Asp954Gly) c.2528A>G (p.Asp843Gly) | COSMIC |
7 | g.117603645A>T | CA368986731 | CFTR | c.2771A>T (p.Asp924Val) c.*2485A>T (n.*2485A>T) c.2588A>T (p.Asp863Val) c.*1071A>T (n.*1071A>T) c.*2595A>T (n.*2595A>T) c.2345A>T (p.Asp782Val) c.362A>T (p.Asp121Val) c.421A>T c.1553A>T (p.Asp518Val) c.2681A>T (p.Asp894Val) c.2861A>T (p.Asp954Val) c.2528A>T (p.Asp843Val) | |
7 | g.117603646C>A | CA368986737 | CFTR | c.2772C>A (p.Asp924Glu) c.*2486C>A (n.*2486C>A) c.2589C>A (p.Asp863Glu) c.*1072C>A (n.*1072C>A) c.*2596C>A (n.*2596C>A) c.2346C>A (p.Asp782Glu) c.363C>A (p.Asp121Glu) c.422C>A c.1554C>A (p.Asp518Glu) c.2682C>A (p.Asp894Glu) c.2862C>A (p.Asp954Glu) c.2529C>A (p.Asp843Glu) | ClinVar dbSNP COSMIC |
7 | g.117603646C= | CA1737374962 | CFTR | c.2772C= (p.Asp924=) c.*2486C= (n.*2486C=) c.2589C= (p.Asp863=) c.*1072C= (n.*1072C=) c.*2596C= (n.*2596C=) c.2346C= (p.Asp782=) c.363C= (p.Asp121=) c.422C= c.1554C= (p.Asp518=) c.2682C= (p.Asp894=) c.2862C= (p.Asp954=) c.2529C= (p.Asp843=) | |
7 | g.117603646C>G | CA368986740 | CFTR | c.2772C>G (p.Asp924Glu) c.*2486C>G (n.*2486C>G) c.2589C>G (p.Asp863Glu) c.*1072C>G (n.*1072C>G) c.*2596C>G (n.*2596C>G) c.2346C>G (p.Asp782Glu) c.363C>G (p.Asp121Glu) c.422C>G c.1554C>G (p.Asp518Glu) c.2682C>G (p.Asp894Glu) c.2862C>G (p.Asp954Glu) c.2529C>G (p.Asp843Glu) | |
7 | g.117603646C>T | CA457227962 | CFTR | c.2772C>T (p.Asp924=) c.*2486C>T (n.*2486C>T) c.2589C>T (p.Asp863=) c.*1072C>T (n.*1072C>T) c.*2596C>T (n.*2596C>T) c.2346C>T (p.Asp782=) c.363C>T (p.Asp121=) c.422C>T c.1554C>T (p.Asp518=) c.2682C>T (p.Asp894=) c.2862C>T (p.Asp954=) c.2529C>T (p.Asp843=) | ClinVar dbSNP gnomAD v4 |
7 | g.117603647A= | CA1737374972 | CFTR | c.2773A= (p.Thr925=) c.*2487A= (n.*2487A=) c.2590A= (p.Thr864=) c.*1073A= (n.*1073A=) c.*2597A= (n.*2597A=) c.2347A= (p.Thr783=) c.364A= (p.Thr122=) c.423A= c.1555A= (p.Thr519=) c.2683A= (p.Thr895=) c.2863A= (p.Thr955=) c.2530A= (p.Thr844=) | |
7 | g.117603647A>C | CA368986742 | CFTR | c.2773A>C (p.Thr925Pro) c.*2487A>C (n.*2487A>C) c.2590A>C (p.Thr864Pro) c.*1073A>C (n.*1073A>C) c.*2597A>C (n.*2597A>C) c.2347A>C (p.Thr783Pro) c.364A>C (p.Thr122Pro) c.423A>C c.1555A>C (p.Thr519Pro) c.2683A>C (p.Thr895Pro) c.2863A>C (p.Thr955Pro) c.2530A>C (p.Thr844Pro) | |
7 | g.117603647A>G | CA368986746 | CFTR | c.2773A>G (p.Thr925Ala) c.*2487A>G (n.*2487A>G) c.2590A>G (p.Thr864Ala) c.*1073A>G (n.*1073A>G) c.*2597A>G (n.*2597A>G) c.2347A>G (p.Thr783Ala) c.364A>G (p.Thr122Ala) c.423A>G c.1555A>G (p.Thr519Ala) c.2683A>G (p.Thr895Ala) c.2863A>G (p.Thr955Ala) c.2530A>G (p.Thr844Ala) | ClinVar dbSNP gnomAD v4 |
7 | g.117603647A>T | CA368986749 | CFTR | c.2773A>T (p.Thr925Ser) c.*2487A>T (n.*2487A>T) c.2590A>T (p.Thr864Ser) c.*1073A>T (n.*1073A>T) c.*2597A>T (n.*2597A>T) c.2347A>T (p.Thr783Ser) c.364A>T (p.Thr122Ser) c.423A>T c.1555A>T (p.Thr519Ser) c.2683A>T (p.Thr895Ser) c.2863A>T (p.Thr955Ser) c.2530A>T (p.Thr844Ser) | |
7 | g.117603648C>A | CA368986752 | CFTR | c.2774C>A (p.Thr925Asn) c.*2488C>A (n.*2488C>A) c.2591C>A (p.Thr864Asn) c.*1074C>A (n.*1074C>A) c.*2598C>A (n.*2598C>A) c.2348C>A (p.Thr783Asn) c.365C>A (p.Thr122Asn) c.424C>A c.1556C>A (p.Thr519Asn) c.2684C>A (p.Thr895Asn) c.2864C>A (p.Thr955Asn) c.2531C>A (p.Thr844Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603648C= | CA1737374982 | CFTR | c.2774C= (p.Thr925=) c.*2488C= (n.*2488C=) c.2591C= (p.Thr864=) c.*1074C= (n.*1074C=) c.*2598C= (n.*2598C=) c.2348C= (p.Thr783=) c.365C= (p.Thr122=) c.424C= c.1556C= (p.Thr519=) c.2684C= (p.Thr895=) c.2864C= (p.Thr955=) c.2531C= (p.Thr844=) | |
7 | g.117603648C>G | CA368986755 | CFTR | c.2774C>G (p.Thr925Ser) c.*2488C>G (n.*2488C>G) c.2591C>G (p.Thr864Ser) c.*1074C>G (n.*1074C>G) c.*2598C>G (n.*2598C>G) c.2348C>G (p.Thr783Ser) c.365C>G (p.Thr122Ser) c.424C>G c.1556C>G (p.Thr519Ser) c.2684C>G (p.Thr895Ser) c.2864C>G (p.Thr955Ser) c.2531C>G (p.Thr844Ser) | ClinVar gnomAD v4 |
7 | g.117603648C>T | CA164960163 | CFTR | c.2774C>T (p.Thr925Ile) c.*2488C>T (n.*2488C>T) c.2591C>T (p.Thr864Ile) c.*1074C>T (n.*1074C>T) c.*2598C>T (n.*2598C>T) c.2348C>T (p.Thr783Ile) c.365C>T (p.Thr122Ile) c.424C>T c.1556C>T (p.Thr519Ile) c.2684C>T (p.Thr895Ile) c.2864C>T (p.Thr955Ile) c.2531C>T (p.Thr844Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603648dup | CA2579000253 | CFTR | c.2774dup (p.Leu926PhefsTer?) c.*2488dup (n.*2488dup) c.2591dup (p.Leu865PhefsTer?) c.*1074dup (n.*1074dup) c.*2598dup (n.*2598dup) c.2348dup (p.Leu784PhefsTer?) c.365dup (p.Leu123PhefsTer?) c.424dup c.1556dup (p.Leu520PhefsTer?) c.2684dup (p.Leu896PhefsTer?) c.2864dup (p.Leu956PhefsTer?) c.2531dup (p.Leu845PhefsTer?) | |
7 | g.117603648_117603650delinsCTT | CA1737374978 | CFTR | c.2774_2776delinsCTT (p.Thr925=) c.*2488_*2490delinsCTT (n.*2488_*2490delinsCTT) c.2591_2593delinsCTT (p.Thr864=) c.*1074_*1076delinsCTT (n.*1074_*1076delinsCTT) c.*2598_*2600delinsCTT (n.*2598_*2600delinsCTT) c.2348_2350delinsCTT (p.Thr783=) c.365_367delinsCTT (p.Thr122=) c.424_426delinsCTT c.1556_1558delinsCTT (p.Thr519=) c.2684_2686delinsCTT (p.Thr895=) c.2864_2866delinsCTT (p.Thr955=) c.2531_2533delinsCTT (p.Thr844=) | |
7 | g.117603649T>A | CA457227963 | CFTR | c.2775T>A (p.Thr925=) c.*2489T>A (n.*2489T>A) c.2592T>A (p.Thr864=) c.*1075T>A (n.*1075T>A) c.*2599T>A (n.*2599T>A) c.2349T>A (p.Thr783=) c.366T>A (p.Thr122=) c.425T>A c.1557T>A (p.Thr519=) c.2685T>A (p.Thr895=) c.2865T>A (p.Thr955=) c.2532T>A (p.Thr844=) | |
7 | g.117603649T>C | CA457227964 | CFTR | c.2775T>C (p.Thr925=) c.*2489T>C (n.*2489T>C) c.2592T>C (p.Thr864=) c.*1075T>C (n.*1075T>C) c.*2599T>C (n.*2599T>C) c.2349T>C (p.Thr783=) c.366T>C (p.Thr122=) c.425T>C c.1557T>C (p.Thr519=) c.2685T>C (p.Thr895=) c.2865T>C (p.Thr955=) c.2532T>C (p.Thr844=) | |
7 | g.117603649T>G | CA457227965 | CFTR | c.2775T>G (p.Thr925=) c.*2489T>G (n.*2489T>G) c.2592T>G (p.Thr864=) c.*1075T>G (n.*1075T>G) c.*2599T>G (n.*2599T>G) c.2349T>G (p.Thr783=) c.366T>G (p.Thr122=) c.425T>G c.1557T>G (p.Thr519=) c.2685T>G (p.Thr895=) c.2865T>G (p.Thr955=) c.2532T>G (p.Thr844=) | |
7 | g.117603651del | CA326926 | CFTR | c.2777del (p.Leu926CysfsTer16) c.*2491del (n.*2491del) c.2594del (p.Leu865CysfsTer16) c.*1077del (n.*1077del) c.*2601del (n.*2601del) c.2351del (p.Leu784CysfsTer16) c.368del (p.Leu123CysfsTer16) c.427del c.1559del (p.Leu520CysfsTer16) c.2687del (p.Leu896CysfsTer16) c.2867del (p.Leu956CysfsTer16) c.2534del (p.Leu845CysfsTer16) | ClinVar dbSNP |
7 | g.117603650_117603651del | CA326925 | CFTR | c.2776_2777del (p.Leu926AlafsTer?) c.*2490_*2491del (n.*2490_*2491del) c.2593_2594del (p.Leu865AlafsTer?) c.*1076_*1077del (n.*1076_*1077del) c.*2600_*2601del (n.*2600_*2601del) c.2350_2351del (p.Leu784AlafsTer?) c.367_368del (p.Leu123AlafsTer?) c.426_427del c.1558_1559del (p.Leu520AlafsTer?) c.2686_2687del (p.Leu896AlafsTer?) c.2866_2867del (p.Leu956AlafsTer?) c.2533_2534del (p.Leu845AlafsTer?) | ClinVar dbSNP |
7 | g.117603650T>A | CA368986762 | CFTR | c.2776T>A (p.Leu926Met) c.*2490T>A (n.*2490T>A) c.2593T>A (p.Leu865Met) c.*1076T>A (n.*1076T>A) c.*2600T>A (n.*2600T>A) c.2350T>A (p.Leu784Met) c.367T>A (p.Leu123Met) c.426T>A c.1558T>A (p.Leu520Met) c.2686T>A (p.Leu896Met) c.2866T>A (p.Leu956Met) c.2533T>A (p.Leu845Met) | |
7 | g.117603650T>C | CA457227966 | CFTR | c.2776T>C (p.Leu926=) c.*2490T>C (n.*2490T>C) c.2593T>C (p.Leu865=) c.*1076T>C (n.*1076T>C) c.*2600T>C (n.*2600T>C) c.2350T>C (p.Leu784=) c.367T>C (p.Leu123=) c.426T>C c.1558T>C (p.Leu520=) c.2686T>C (p.Leu896=) c.2866T>C (p.Leu956=) c.2533T>C (p.Leu845=) | gnomAD v3 gnomAD v4 |
7 | g.117603650T>G | CA368986764 | CFTR | c.2776T>G (p.Leu926Val) c.*2490T>G (n.*2490T>G) c.2593T>G (p.Leu865Val) c.*1076T>G (n.*1076T>G) c.*2600T>G (n.*2600T>G) c.2350T>G (p.Leu784Val) c.367T>G (p.Leu123Val) c.426T>G c.1558T>G (p.Leu520Val) c.2686T>G (p.Leu896Val) c.2866T>G (p.Leu956Val) c.2533T>G (p.Leu845Val) | |
7 | g.117603651T>A | CA368986768 | CFTR | c.2777T>A (p.Leu926Ter) c.*2491T>A (n.*2491T>A) c.2594T>A (p.Leu865Ter) c.*1077T>A (n.*1077T>A) c.*2601T>A (n.*2601T>A) c.2351T>A (p.Leu784Ter) c.368T>A (p.Leu123Ter) c.427T>A c.1559T>A (p.Leu520Ter) c.2687T>A (p.Leu896Ter) c.2867T>A (p.Leu956Ter) c.2534T>A (p.Leu845Ter) | |
7 | g.117603651T>C | CA4451286 | CFTR | c.2777T>C (p.Leu926Ser) c.*2491T>C (n.*2491T>C) c.2594T>C (p.Leu865Ser) c.*1077T>C (n.*1077T>C) c.*2601T>C (n.*2601T>C) c.2351T>C (p.Leu784Ser) c.368T>C (p.Leu123Ser) c.427T>C c.1559T>C (p.Leu520Ser) c.2687T>C (p.Leu896Ser) c.2867T>C (p.Leu956Ser) c.2534T>C (p.Leu845Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603651T>G | CA368986771 | CFTR | c.2777T>G (p.Leu926Trp) c.*2491T>G (n.*2491T>G) c.2594T>G (p.Leu865Trp) c.*1077T>G (n.*1077T>G) c.*2601T>G (n.*2601T>G) c.2351T>G (p.Leu784Trp) c.368T>G (p.Leu123Trp) c.427T>G c.1559T>G (p.Leu520Trp) c.2687T>G (p.Leu896Trp) c.2867T>G (p.Leu956Trp) c.2534T>G (p.Leu845Trp) | |
7 | g.117603651T= | CA1737375014 | CFTR | c.2777T= (p.Leu926=) c.*2491T= (n.*2491T=) c.2594T= (p.Leu865=) c.*1077T= (n.*1077T=) c.*2601T= (n.*2601T=) c.2351T= (p.Leu784=) c.368T= (p.Leu123=) c.427T= c.1559T= (p.Leu520=) c.2687T= (p.Leu896=) c.2867T= (p.Leu956=) c.2534T= (p.Leu845=) | |
7 | g.117603652G>A | CA457227967 | CFTR | c.2778G>A (p.Leu926=) c.*2492G>A (n.*2492G>A) c.2595G>A (p.Leu865=) c.*1078G>A (n.*1078G>A) c.*2602G>A (n.*2602G>A) c.2352G>A (p.Leu784=) c.369G>A (p.Leu123=) c.428G>A c.1560G>A (p.Leu520=) c.2688G>A (p.Leu896=) c.2868G>A (p.Leu956=) c.2535G>A (p.Leu845=) | dbSNP gnomAD v4 |
7 | g.117603652G>C | CA368986774 | CFTR | c.2778G>C (p.Leu926Phe) c.*2492G>C (n.*2492G>C) c.2595G>C (p.Leu865Phe) c.*1078G>C (n.*1078G>C) c.*2602G>C (n.*2602G>C) c.2352G>C (p.Leu784Phe) c.369G>C (p.Leu123Phe) c.428G>C c.1560G>C (p.Leu520Phe) c.2688G>C (p.Leu896Phe) c.2868G>C (p.Leu956Phe) c.2535G>C (p.Leu845Phe) | |
7 | g.117603652G= | CA1737375019 | CFTR | c.2778G= (p.Leu926=) c.*2492G= (n.*2492G=) c.2595G= (p.Leu865=) c.*1078G= (n.*1078G=) c.*2602G= (n.*2602G=) c.2352G= (p.Leu784=) c.369G= (p.Leu123=) c.428G= c.1560G= (p.Leu520=) c.2688G= (p.Leu896=) c.2868G= (p.Leu956=) c.2535G= (p.Leu845=) | |
7 | g.117603652G>T | CA4451287 | CFTR | c.2778G>T (p.Leu926Phe) c.*2492G>T (n.*2492G>T) c.2595G>T (p.Leu865Phe) c.*1078G>T (n.*1078G>T) c.*2602G>T (n.*2602G>T) c.2352G>T (p.Leu784Phe) c.369G>T (p.Leu123Phe) c.428G>T c.1560G>T (p.Leu520Phe) c.2688G>T (p.Leu896Phe) c.2868G>T (p.Leu956Phe) c.2535G>T (p.Leu845Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603653_117603662dup | CA2695208419 | CFTR | c.2779_2788dup (p.Gly930AlafsTer?) c.*2493_*2502dup (n.*2493_*2502dup) c.2596_2605dup (p.Gly869AlafsTer?) c.*1079_*1088dup (n.*1079_*1088dup) c.*2603_*2612dup (n.*2603_*2612dup) c.2353_2362dup (p.Gly788AlafsTer?) c.370_379dup (p.Gly127AlafsTer?) c.429_438dup c.1561_1570dup (p.Gly524AlafsTer?) c.2689_2698dup (p.Gly900AlafsTer?) c.2869_2878dup (p.Gly960AlafsTer?) c.2536_2545dup (p.Gly849AlafsTer?) | |
7 | g.117603653C>A | CA368986787 | CFTR | c.2779C>A (p.Leu927Ile) c.*2493C>A (n.*2493C>A) c.2596C>A (p.Leu866Ile) c.*1079C>A (n.*1079C>A) c.*2603C>A (n.*2603C>A) c.2353C>A (p.Leu785Ile) c.370C>A (p.Leu124Ile) c.429C>A c.1561C>A (p.Leu521Ile) c.2689C>A (p.Leu897Ile) c.2869C>A (p.Leu957Ile) c.2536C>A (p.Leu846Ile) | |
7 | g.117603653C>G | CA368986783 | CFTR | c.2779C>G (p.Leu927Val) c.*2493C>G (n.*2493C>G) c.2596C>G (p.Leu866Val) c.*1079C>G (n.*1079C>G) c.*2603C>G (n.*2603C>G) c.2353C>G (p.Leu785Val) c.370C>G (p.Leu124Val) c.429C>G c.1561C>G (p.Leu521Val) c.2689C>G (p.Leu897Val) c.2869C>G (p.Leu957Val) c.2536C>G (p.Leu846Val) | |
7 | g.117603653C>T | CA368986779 | CFTR | c.2779C>T (p.Leu927Phe) c.*2493C>T (n.*2493C>T) c.2596C>T (p.Leu866Phe) c.*1079C>T (n.*1079C>T) c.*2603C>T (n.*2603C>T) c.2353C>T (p.Leu785Phe) c.370C>T (p.Leu124Phe) c.429C>T c.1561C>T (p.Leu521Phe) c.2689C>T (p.Leu897Phe) c.2869C>T (p.Leu957Phe) c.2536C>T (p.Leu846Phe) | |
7 | g.117603654T>A | CA368986791 | CFTR | c.2780T>A (p.Leu927His) c.*2494T>A (n.*2494T>A) c.2597T>A (p.Leu866His) c.*1080T>A (n.*1080T>A) c.*2604T>A (n.*2604T>A) c.2354T>A (p.Leu785His) c.371T>A (p.Leu124His) c.430T>A c.1562T>A (p.Leu521His) c.2690T>A (p.Leu897His) c.2870T>A (p.Leu957His) c.2537T>A (p.Leu846His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603654T>C | CA328107 | CFTR | c.2780T>C (p.Leu927Pro) c.*2494T>C (n.*2494T>C) c.2597T>C (p.Leu866Pro) c.*1080T>C (n.*1080T>C) c.*2604T>C (n.*2604T>C) c.2354T>C (p.Leu785Pro) c.371T>C (p.Leu124Pro) c.430T>C c.1562T>C (p.Leu521Pro) c.2690T>C (p.Leu897Pro) c.2870T>C (p.Leu957Pro) c.2537T>C (p.Leu846Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117603654T>G | CA368986796 | CFTR | c.2780T>G (p.Leu927Arg) c.*2494T>G (n.*2494T>G) c.2597T>G (p.Leu866Arg) c.*1080T>G (n.*1080T>G) c.*2604T>G (n.*2604T>G) c.2354T>G (p.Leu785Arg) c.371T>G (p.Leu124Arg) c.430T>G c.1562T>G (p.Leu521Arg) c.2690T>G (p.Leu897Arg) c.2870T>G (p.Leu957Arg) c.2537T>G (p.Leu846Arg) | |
7 | g.117603654T= | CA1737375026 | CFTR | c.2780T= (p.Leu927=) c.*2494T= (n.*2494T=) c.2597T= (p.Leu866=) c.*1080T= (n.*1080T=) c.*2604T= (n.*2604T=) c.2354T= (p.Leu785=) c.371T= (p.Leu124=) c.430T= c.1562T= (p.Leu521=) c.2690T= (p.Leu897=) c.2870T= (p.Leu957=) c.2537T= (p.Leu846=) | |
7 | g.117603655T>A | CA457227968 | CFTR | c.2781T>A (p.Leu927=) c.*2495T>A (n.*2495T>A) c.2598T>A (p.Leu866=) c.*1081T>A (n.*1081T>A) c.*2605T>A (n.*2605T>A) c.2355T>A (p.Leu785=) c.372T>A (p.Leu124=) c.431T>A c.1563T>A (p.Leu521=) c.2691T>A (p.Leu897=) c.2871T>A (p.Leu957=) c.2538T>A (p.Leu846=) | dbSNP |
7 | g.117603655T>C | CA457227970 | CFTR | c.2781T>C (p.Leu927=) c.*2495T>C (n.*2495T>C) c.2598T>C (p.Leu866=) c.*1081T>C (n.*1081T>C) c.*2605T>C (n.*2605T>C) c.2355T>C (p.Leu785=) c.372T>C (p.Leu124=) c.431T>C c.1563T>C (p.Leu521=) c.2691T>C (p.Leu897=) c.2871T>C (p.Leu957=) c.2538T>C (p.Leu846=) | |
7 | g.117603655T>G | CA457227969 | CFTR | c.2781T>G (p.Leu927=) c.*2495T>G (n.*2495T>G) c.2598T>G (p.Leu866=) c.*1081T>G (n.*1081T>G) c.*2605T>G (n.*2605T>G) c.2355T>G (p.Leu785=) c.372T>G (p.Leu124=) c.431T>G c.1563T>G (p.Leu521=) c.2691T>G (p.Leu897=) c.2871T>G (p.Leu957=) c.2538T>G (p.Leu846=) | |
7 | g.117603655T= | CA1737375032 | CFTR | c.2781T= (p.Leu927=) c.*2495T= (n.*2495T=) c.2598T= (p.Leu866=) c.*1081T= (n.*1081T=) c.*2605T= (n.*2605T=) c.2355T= (p.Leu785=) c.372T= (p.Leu124=) c.431T= c.1563T= (p.Leu521=) c.2691T= (p.Leu897=) c.2871T= (p.Leu957=) c.2538T= (p.Leu846=) | |
7 | g.117603656G>A | CA368986801 | CFTR | c.2782G>A (p.Ala928Thr) c.*2496G>A (n.*2496G>A) c.2599G>A (p.Ala867Thr) c.*1082G>A (n.*1082G>A) c.*2606G>A (n.*2606G>A) c.2356G>A (p.Ala786Thr) c.373G>A (p.Ala125Thr) c.432G>A c.1564G>A (p.Ala522Thr) c.2692G>A (p.Ala898Thr) c.2872G>A (p.Ala958Thr) c.2539G>A (p.Ala847Thr) | |
7 | g.117603656G>C | CA368986804 | CFTR | c.2782G>C (p.Ala928Pro) c.*2496G>C (n.*2496G>C) c.2599G>C (p.Ala867Pro) c.*1082G>C (n.*1082G>C) c.*2606G>C (n.*2606G>C) c.2356G>C (p.Ala786Pro) c.373G>C (p.Ala125Pro) c.432G>C c.1564G>C (p.Ala522Pro) c.2692G>C (p.Ala898Pro) c.2872G>C (p.Ala958Pro) c.2539G>C (p.Ala847Pro) | |
7 | g.117603656G>T | CA368986806 | CFTR | c.2782G>T (p.Ala928Ser) c.*2496G>T (n.*2496G>T) c.2599G>T (p.Ala867Ser) c.*1082G>T (n.*1082G>T) c.*2606G>T (n.*2606G>T) c.2356G>T (p.Ala786Ser) c.373G>T (p.Ala125Ser) c.432G>T c.1564G>T (p.Ala522Ser) c.2692G>T (p.Ala898Ser) c.2872G>T (p.Ala958Ser) c.2539G>T (p.Ala847Ser) | |
7 | g.117603657C>A | CA368986809 | CFTR | c.2783C>A (p.Ala928Asp) c.*2497C>A (n.*2497C>A) c.2600C>A (p.Ala867Asp) c.*1083C>A (n.*1083C>A) c.*2607C>A (n.*2607C>A) c.2357C>A (p.Ala786Asp) c.374C>A (p.Ala125Asp) c.433C>A c.1565C>A (p.Ala522Asp) c.2693C>A (p.Ala898Asp) c.2873C>A (p.Ala958Asp) c.2540C>A (p.Ala847Asp) | |
7 | g.117603657C>G | CA368986814 | CFTR | c.2783C>G (p.Ala928Gly) c.*2497C>G (n.*2497C>G) c.2600C>G (p.Ala867Gly) c.*1083C>G (n.*1083C>G) c.*2607C>G (n.*2607C>G) c.2357C>G (p.Ala786Gly) c.374C>G (p.Ala125Gly) c.433C>G c.1565C>G (p.Ala522Gly) c.2693C>G (p.Ala898Gly) c.2873C>G (p.Ala958Gly) c.2540C>G (p.Ala847Gly) | |
7 | g.117603657C>T | CA368986812 | CFTR | c.2783C>T (p.Ala928Val) c.*2497C>T (n.*2497C>T) c.2600C>T (p.Ala867Val) c.*1083C>T (n.*1083C>T) c.*2607C>T (n.*2607C>T) c.2357C>T (p.Ala786Val) c.374C>T (p.Ala125Val) c.433C>T c.1565C>T (p.Ala522Val) c.2693C>T (p.Ala898Val) c.2873C>T (p.Ala958Val) c.2540C>T (p.Ala847Val) | gnomAD v4 COSMIC |
7 | g.117603658T>A | CA457227973 | CFTR | c.2784T>A (p.Ala928=) c.*2498T>A (n.*2498T>A) c.2601T>A (p.Ala867=) c.*1084T>A (n.*1084T>A) c.*2608T>A (n.*2608T>A) c.2358T>A (p.Ala786=) c.375T>A (p.Ala125=) c.434T>A c.1566T>A (p.Ala522=) c.2694T>A (p.Ala898=) c.2874T>A (p.Ala958=) c.2541T>A (p.Ala847=) | |
7 | g.117603658T>C | CA457227972 | CFTR | c.2784T>C (p.Ala928=) c.*2498T>C (n.*2498T>C) c.2601T>C (p.Ala867=) c.*1084T>C (n.*1084T>C) c.*2608T>C (n.*2608T>C) c.2358T>C (p.Ala786=) c.375T>C (p.Ala125=) c.434T>C c.1566T>C (p.Ala522=) c.2694T>C (p.Ala898=) c.2874T>C (p.Ala958=) c.2541T>C (p.Ala847=) | |
7 | g.117603658T>G | CA457227971 | CFTR | c.2784T>G (p.Ala928=) c.*2498T>G (n.*2498T>G) c.2601T>G (p.Ala867=) c.*1084T>G (n.*1084T>G) c.*2608T>G (n.*2608T>G) c.2358T>G (p.Ala786=) c.375T>G (p.Ala125=) c.434T>G c.1566T>G (p.Ala522=) c.2694T>G (p.Ala898=) c.2874T>G (p.Ala958=) c.2541T>G (p.Ala847=) | |
7 | g.117603659A>C | CA368986819 | CFTR | c.2785A>C (p.Met929Leu) c.*2499A>C (n.*2499A>C) c.2602A>C (p.Met868Leu) c.*1085A>C (n.*1085A>C) c.*2609A>C (n.*2609A>C) c.2359A>C (p.Met787Leu) c.376A>C (p.Met126Leu) c.435A>C c.1567A>C (p.Met523Leu) c.2695A>C (p.Met899Leu) c.2875A>C (p.Met959Leu) c.2542A>C (p.Met848Leu) | |
7 | g.117603659A>G | CA368986822 | CFTR | c.2785A>G (p.Met929Val) c.*2499A>G (n.*2499A>G) c.2602A>G (p.Met868Val) c.*1085A>G (n.*1085A>G) c.*2609A>G (n.*2609A>G) c.2359A>G (p.Met787Val) c.376A>G (p.Met126Val) c.435A>G c.1567A>G (p.Met523Val) c.2695A>G (p.Met899Val) c.2875A>G (p.Met959Val) c.2542A>G (p.Met848Val) | |
7 | g.117603659A>T | CA368986825 | CFTR | c.2785A>T (p.Met929Leu) c.*2499A>T (n.*2499A>T) c.2602A>T (p.Met868Leu) c.*1085A>T (n.*1085A>T) c.*2609A>T (n.*2609A>T) c.2359A>T (p.Met787Leu) c.376A>T (p.Met126Leu) c.435A>T c.1567A>T (p.Met523Leu) c.2695A>T (p.Met899Leu) c.2875A>T (p.Met959Leu) c.2542A>T (p.Met848Leu) | |
7 | g.117603660T>A | CA368986828 | CFTR | c.2786T>A (p.Met929Lys) c.*2500T>A (n.*2500T>A) c.2603T>A (p.Met868Lys) c.*1086T>A (n.*1086T>A) c.*2610T>A (n.*2610T>A) c.2360T>A (p.Met787Lys) c.377T>A (p.Met126Lys) c.436T>A c.1568T>A (p.Met523Lys) c.2696T>A (p.Met899Lys) c.2876T>A (p.Met959Lys) c.2543T>A (p.Met848Lys) | gnomAD v4 |
7 | g.117603660T>C | CA368986831 | CFTR | c.2786T>C (p.Met929Thr) c.*2500T>C (n.*2500T>C) c.2603T>C (p.Met868Thr) c.*1086T>C (n.*1086T>C) c.*2610T>C (n.*2610T>C) c.2360T>C (p.Met787Thr) c.377T>C (p.Met126Thr) c.436T>C c.1568T>C (p.Met523Thr) c.2696T>C (p.Met899Thr) c.2876T>C (p.Met959Thr) c.2543T>C (p.Met848Thr) | |
7 | g.117603660T>G | CA368986840 | CFTR | c.2786T>G (p.Met929Arg) c.*2500T>G (n.*2500T>G) c.2603T>G (p.Met868Arg) c.*1086T>G (n.*1086T>G) c.*2610T>G (n.*2610T>G) c.2360T>G (p.Met787Arg) c.377T>G (p.Met126Arg) c.436T>G c.1568T>G (p.Met523Arg) c.2696T>G (p.Met899Arg) c.2876T>G (p.Met959Arg) c.2543T>G (p.Met848Arg) | |
7 | g.117603661G>A | CA368986843 | CFTR | c.2787G>A (p.Met929Ile) c.*2501G>A (n.*2501G>A) c.2604G>A (p.Met868Ile) c.*1087G>A (n.*1087G>A) c.*2611G>A (n.*2611G>A) c.2361G>A (p.Met787Ile) c.378G>A (p.Met126Ile) c.437G>A c.1569G>A (p.Met523Ile) c.2697G>A (p.Met899Ile) c.2877G>A (p.Met959Ile) c.2544G>A (p.Met848Ile) | ClinVar |
7 | g.117603661G>C | CA368986845 | CFTR | c.2787G>C (p.Met929Ile) c.*2501G>C (n.*2501G>C) c.2604G>C (p.Met868Ile) c.*1087G>C (n.*1087G>C) c.*2611G>C (n.*2611G>C) c.2361G>C (p.Met787Ile) c.378G>C (p.Met126Ile) c.437G>C c.1569G>C (p.Met523Ile) c.2697G>C (p.Met899Ile) c.2877G>C (p.Met959Ile) c.2544G>C (p.Met848Ile) | |
7 | g.117603661G>T | CA368986847 | CFTR | c.2787G>T (p.Met929Ile) c.*2501G>T (n.*2501G>T) c.2604G>T (p.Met868Ile) c.*1087G>T (n.*1087G>T) c.*2611G>T (n.*2611G>T) c.2361G>T (p.Met787Ile) c.378G>T (p.Met126Ile) c.437G>T c.1569G>T (p.Met523Ile) c.2697G>T (p.Met899Ile) c.2877G>T (p.Met959Ile) c.2544G>T (p.Met848Ile) | |
7 | g.117603663del | CA2695208420 | CFTR | c.2789del (p.Gly930AspfsTer12) c.*2503del (n.*2503del) c.2606del (p.Gly869AspfsTer12) c.*1089del (n.*1089del) c.*2613del (n.*2613del) c.2363del (p.Gly788AspfsTer12) c.380del (p.Gly127AspfsTer12) c.439del c.1571del (p.Gly524AspfsTer12) c.2699del (p.Gly900AspfsTer12) c.2879del (p.Gly960AspfsTer12) c.2546del (p.Gly849AspfsTer12) | |
7 | g.117603662G>A | CA368986848 | CFTR | c.2788G>A (p.Gly930Arg) c.*2502G>A (n.*2502G>A) c.2605G>A (p.Gly869Arg) c.*1088G>A (n.*1088G>A) c.*2612G>A (n.*2612G>A) c.2362G>A (p.Gly788Arg) c.379G>A (p.Gly127Arg) c.438G>A c.1570G>A (p.Gly524Arg) c.2698G>A (p.Gly900Arg) c.2878G>A (p.Gly960Arg) c.2545G>A (p.Gly849Arg) | |
7 | g.117603662G>C | CA368986849 | CFTR | c.2788G>C (p.Gly930Arg) c.*2502G>C (n.*2502G>C) c.2605G>C (p.Gly869Arg) c.*1088G>C (n.*1088G>C) c.*2612G>C (n.*2612G>C) c.2362G>C (p.Gly788Arg) c.379G>C (p.Gly127Arg) c.438G>C c.1570G>C (p.Gly524Arg) c.2698G>C (p.Gly900Arg) c.2878G>C (p.Gly960Arg) c.2545G>C (p.Gly849Arg) | |
7 | g.117603662G>T | CA368986851 | CFTR | c.2788G>T (p.Gly930Ter) c.*2502G>T (n.*2502G>T) c.2605G>T (p.Gly869Ter) c.*1088G>T (n.*1088G>T) c.*2612G>T (n.*2612G>T) c.2362G>T (p.Gly788Ter) c.379G>T (p.Gly127Ter) c.438G>T c.1570G>T (p.Gly524Ter) c.2698G>T (p.Gly900Ter) c.2878G>T (p.Gly960Ter) c.2545G>T (p.Gly849Ter) | gnomAD v4 |
7 | g.117603663G>A | CA368986853 | CFTR | c.2789G>A (p.Gly930Glu) c.*2503G>A (n.*2503G>A) c.2606G>A (p.Gly869Glu) c.*1089G>A (n.*1089G>A) c.*2613G>A (n.*2613G>A) c.2363G>A (p.Gly788Glu) c.380G>A (p.Gly127Glu) c.439G>A c.1571G>A (p.Gly524Glu) c.2699G>A (p.Gly900Glu) c.2879G>A (p.Gly960Glu) c.2546G>A (p.Gly849Glu) | |
7 | g.117603663G>C | CA368986855 | CFTR | c.2789G>C (p.Gly930Ala) c.*2503G>C (n.*2503G>C) c.2606G>C (p.Gly869Ala) c.*1089G>C (n.*1089G>C) c.*2613G>C (n.*2613G>C) c.2363G>C (p.Gly788Ala) c.380G>C (p.Gly127Ala) c.439G>C c.1571G>C (p.Gly524Ala) c.2699G>C (p.Gly900Ala) c.2879G>C (p.Gly960Ala) c.2546G>C (p.Gly849Ala) | |
7 | g.117603663G>T | CA368986854 | CFTR | c.2789G>T (p.Gly930Val) c.*2503G>T (n.*2503G>T) c.2606G>T (p.Gly869Val) c.*1089G>T (n.*1089G>T) c.*2613G>T (n.*2613G>T) c.2363G>T (p.Gly788Val) c.380G>T (p.Gly127Val) c.439G>T c.1571G>T (p.Gly524Val) c.2699G>T (p.Gly900Val) c.2879G>T (p.Gly960Val) c.2546G>T (p.Gly849Val) | gnomAD v4 |
7 | g.117603664A= | CA1737375034 | CFTR | c.2790A= (p.Gly930=) c.*2504A= (n.*2504A=) c.2607A= (p.Gly869=) c.*1090A= (n.*1090A=) c.*2614A= (n.*2614A=) c.2364A= (p.Gly788=) c.381A= (p.Gly127=) c.440A= c.1572A= (p.Gly524=) c.2700A= (p.Gly900=) c.2880A= (p.Gly960=) c.2547A= (p.Gly849=) | |
7 | g.117603664A>C | CA457227974 | CFTR | c.2790A>C (p.Gly930=) c.*2504A>C (n.*2504A>C) c.2607A>C (p.Gly869=) c.*1090A>C (n.*1090A>C) c.*2614A>C (n.*2614A>C) c.2364A>C (p.Gly788=) c.381A>C (p.Gly127=) c.440A>C c.1572A>C (p.Gly524=) c.2700A>C (p.Gly900=) c.2880A>C (p.Gly960=) c.2547A>C (p.Gly849=) | ClinVar |
7 | g.117603664A>G | CA164960202 | CFTR | c.2790A>G (p.Gly930=) c.*2504A>G (n.*2504A>G) c.2607A>G (p.Gly869=) c.*1090A>G (n.*1090A>G) c.*2614A>G (n.*2614A>G) c.2364A>G (p.Gly788=) c.381A>G (p.Gly127=) c.440A>G c.1572A>G (p.Gly524=) c.2700A>G (p.Gly900=) c.2880A>G (p.Gly960=) c.2547A>G (p.Gly849=) | ClinVar dbSNP |
7 | g.117603664A>T | CA457227975 | CFTR | c.2790A>T (p.Gly930=) c.*2504A>T (n.*2504A>T) c.2607A>T (p.Gly869=) c.*1090A>T (n.*1090A>T) c.*2614A>T (n.*2614A>T) c.2364A>T (p.Gly788=) c.381A>T (p.Gly127=) c.440A>T c.1572A>T (p.Gly524=) c.2700A>T (p.Gly900=) c.2880A>T (p.Gly960=) c.2547A>T (p.Gly849=) | |
7 | g.117603665T>A | CA368986857 | CFTR | c.2791T>A (p.Phe931Ile) c.*2505T>A (n.*2505T>A) c.2608T>A (p.Phe870Ile) c.*1091T>A (n.*1091T>A) c.*2615T>A (n.*2615T>A) c.2365T>A (p.Phe789Ile) c.382T>A (p.Phe128Ile) c.441T>A c.1573T>A (p.Phe525Ile) c.2701T>A (p.Phe901Ile) c.2881T>A (p.Phe961Ile) c.2548T>A (p.Phe850Ile) | |
7 | g.117603665T>C | CA368986859 | CFTR | c.2791T>C (p.Phe931Leu) c.*2505T>C (n.*2505T>C) c.2608T>C (p.Phe870Leu) c.*1091T>C (n.*1091T>C) c.*2615T>C (n.*2615T>C) c.2365T>C (p.Phe789Leu) c.382T>C (p.Phe128Leu) c.441T>C c.1573T>C (p.Phe525Leu) c.2701T>C (p.Phe901Leu) c.2881T>C (p.Phe961Leu) c.2548T>C (p.Phe850Leu) | |
7 | g.117603665T>G | CA368986863 | CFTR | c.2791T>G (p.Phe931Val) c.*2505T>G (n.*2505T>G) c.2608T>G (p.Phe870Val) c.*1091T>G (n.*1091T>G) c.*2615T>G (n.*2615T>G) c.2365T>G (p.Phe789Val) c.382T>G (p.Phe128Val) c.441T>G c.1573T>G (p.Phe525Val) c.2701T>G (p.Phe901Val) c.2881T>G (p.Phe961Val) c.2548T>G (p.Phe850Val) | |
7 | g.117603666T>A | CA368986866 | CFTR | c.2792T>A (p.Phe931Tyr) c.*2506T>A (n.*2506T>A) c.2609T>A (p.Phe870Tyr) c.*1092T>A (n.*1092T>A) c.*2616T>A (n.*2616T>A) c.2366T>A (p.Phe789Tyr) c.383T>A (p.Phe128Tyr) c.442T>A c.1574T>A (p.Phe525Tyr) c.2702T>A (p.Phe901Tyr) c.2882T>A (p.Phe961Tyr) c.2549T>A (p.Phe850Tyr) | |
7 | g.117603666T>C | CA368986867 | CFTR | c.2792T>C (p.Phe931Ser) c.*2506T>C (n.*2506T>C) c.2609T>C (p.Phe870Ser) c.*1092T>C (n.*1092T>C) c.*2616T>C (n.*2616T>C) c.2366T>C (p.Phe789Ser) c.383T>C (p.Phe128Ser) c.442T>C c.1574T>C (p.Phe525Ser) c.2702T>C (p.Phe901Ser) c.2882T>C (p.Phe961Ser) c.2549T>C (p.Phe850Ser) | |
7 | g.117603666T>G | CA368986869 | CFTR | c.2792T>G (p.Phe931Cys) c.*2506T>G (n.*2506T>G) c.2609T>G (p.Phe870Cys) c.*1092T>G (n.*1092T>G) c.*2616T>G (n.*2616T>G) c.2366T>G (p.Phe789Cys) c.383T>G (p.Phe128Cys) c.442T>G c.1574T>G (p.Phe525Cys) c.2702T>G (p.Phe901Cys) c.2882T>G (p.Phe961Cys) c.2549T>G (p.Phe850Cys) | |
7 | g.117603667C>A | CA368986870 | CFTR | c.2793C>A (p.Phe931Leu) c.*2507C>A (n.*2507C>A) c.2610C>A (p.Phe870Leu) c.*1093C>A (n.*1093C>A) c.*2617C>A (n.*2617C>A) c.2367C>A (p.Phe789Leu) c.384C>A (p.Phe128Leu) c.443C>A c.1575C>A (p.Phe525Leu) c.2703C>A (p.Phe901Leu) c.2883C>A (p.Phe961Leu) c.2550C>A (p.Phe850Leu) | |
7 | g.117603667C= | CA1737375038 | CFTR | c.2793C= (p.Phe931=) c.*2507C= (n.*2507C=) c.2610C= (p.Phe870=) c.*1093C= (n.*1093C=) c.*2617C= (n.*2617C=) c.2367C= (p.Phe789=) c.384C= (p.Phe128=) c.443C= c.1575C= (p.Phe525=) c.2703C= (p.Phe901=) c.2883C= (p.Phe961=) c.2550C= (p.Phe850=) | |
7 | g.117603667C>G | CA368986872 | CFTR | c.2793C>G (p.Phe931Leu) c.*2507C>G (n.*2507C>G) c.2610C>G (p.Phe870Leu) c.*1093C>G (n.*1093C>G) c.*2617C>G (n.*2617C>G) c.2367C>G (p.Phe789Leu) c.384C>G (p.Phe128Leu) c.443C>G c.1575C>G (p.Phe525Leu) c.2703C>G (p.Phe901Leu) c.2883C>G (p.Phe961Leu) c.2550C>G (p.Phe850Leu) | gnomAD v4 |
7 | g.117603667C>T | CA457227976 | CFTR | c.2793C>T (p.Phe931=) c.*2507C>T (n.*2507C>T) c.2610C>T (p.Phe870=) c.*1093C>T (n.*1093C>T) c.*2617C>T (n.*2617C>T) c.2367C>T (p.Phe789=) c.384C>T (p.Phe128=) c.443C>T c.1575C>T (p.Phe525=) c.2703C>T (p.Phe901=) c.2883C>T (p.Phe961=) c.2550C>T (p.Phe850=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603668T>A | CA368986874 | CFTR | c.2794T>A (p.Phe932Ile) c.*2508T>A (n.*2508T>A) c.2611T>A (p.Phe871Ile) c.*1094T>A (n.*1094T>A) c.*2618T>A (n.*2618T>A) c.2368T>A (p.Phe790Ile) c.385T>A (p.Phe129Ile) c.444T>A c.1576T>A (p.Phe526Ile) c.2704T>A (p.Phe902Ile) c.2884T>A (p.Phe962Ile) c.2551T>A (p.Phe851Ile) | |
7 | g.117603668T>C | CA368986875 | CFTR | c.2794T>C (p.Phe932Leu) c.*2508T>C (n.*2508T>C) c.2611T>C (p.Phe871Leu) c.*1094T>C (n.*1094T>C) c.*2618T>C (n.*2618T>C) c.2368T>C (p.Phe790Leu) c.385T>C (p.Phe129Leu) c.444T>C c.1576T>C (p.Phe526Leu) c.2704T>C (p.Phe902Leu) c.2884T>C (p.Phe962Leu) c.2551T>C (p.Phe851Leu) | |
7 | g.117603668T>G | CA368986877 | CFTR | c.2794T>G (p.Phe932Val) c.*2508T>G (n.*2508T>G) c.2611T>G (p.Phe871Val) c.*1094T>G (n.*1094T>G) c.*2618T>G (n.*2618T>G) c.2368T>G (p.Phe790Val) c.385T>G (p.Phe129Val) c.444T>G c.1576T>G (p.Phe526Val) c.2704T>G (p.Phe902Val) c.2884T>G (p.Phe962Val) c.2551T>G (p.Phe851Val) | |
7 | g.117603669T>A | CA368986884 | CFTR | c.2795T>A (p.Phe932Tyr) c.*2509T>A (n.*2509T>A) c.2612T>A (p.Phe871Tyr) c.*1095T>A (n.*1095T>A) c.*2619T>A (n.*2619T>A) c.2369T>A (p.Phe790Tyr) c.386T>A (p.Phe129Tyr) c.445T>A c.1577T>A (p.Phe526Tyr) c.2705T>A (p.Phe902Tyr) c.2885T>A (p.Phe962Tyr) c.2552T>A (p.Phe851Tyr) | |
7 | g.117603669T>C | CA368986881 | CFTR | c.2795T>C (p.Phe932Ser) c.*2509T>C (n.*2509T>C) c.2612T>C (p.Phe871Ser) c.*1095T>C (n.*1095T>C) c.*2619T>C (n.*2619T>C) c.2369T>C (p.Phe790Ser) c.386T>C (p.Phe129Ser) c.445T>C c.1577T>C (p.Phe526Ser) c.2705T>C (p.Phe902Ser) c.2885T>C (p.Phe962Ser) c.2552T>C (p.Phe851Ser) | |
7 | g.117603669T>G | CA368986880 | CFTR | c.2795T>G (p.Phe932Cys) c.*2509T>G (n.*2509T>G) c.2612T>G (p.Phe871Cys) c.*1095T>G (n.*1095T>G) c.*2619T>G (n.*2619T>G) c.2369T>G (p.Phe790Cys) c.386T>G (p.Phe129Cys) c.445T>G c.1577T>G (p.Phe526Cys) c.2705T>G (p.Phe902Cys) c.2885T>G (p.Phe962Cys) c.2552T>G (p.Phe851Cys) | |
7 | g.117603670C>A | CA368986887 | CFTR | c.2796C>A (p.Phe932Leu) c.*2510C>A (n.*2510C>A) c.2613C>A (p.Phe871Leu) c.*1096C>A (n.*1096C>A) c.*2620C>A (n.*2620C>A) c.2370C>A (p.Phe790Leu) c.387C>A (p.Phe129Leu) c.446C>A c.1578C>A (p.Phe526Leu) c.2706C>A (p.Phe902Leu) c.2886C>A (p.Phe962Leu) c.2553C>A (p.Phe851Leu) | |
7 | g.117603670C>G | CA368986888 | CFTR | c.2796C>G (p.Phe932Leu) c.*2510C>G (n.*2510C>G) c.2613C>G (p.Phe871Leu) c.*1096C>G (n.*1096C>G) c.*2620C>G (n.*2620C>G) c.2370C>G (p.Phe790Leu) c.387C>G (p.Phe129Leu) c.446C>G c.1578C>G (p.Phe526Leu) c.2706C>G (p.Phe902Leu) c.2886C>G (p.Phe962Leu) c.2553C>G (p.Phe851Leu) | |
7 | g.117603670C>T | CA457227977 | CFTR | c.2796C>T (p.Phe932=) c.*2510C>T (n.*2510C>T) c.2613C>T (p.Phe871=) c.*1096C>T (n.*1096C>T) c.*2620C>T (n.*2620C>T) c.2370C>T (p.Phe790=) c.387C>T (p.Phe129=) c.446C>T c.1578C>T (p.Phe526=) c.2706C>T (p.Phe902=) c.2886C>T (p.Phe962=) c.2553C>T (p.Phe851=) | |
7 | g.117603671A= | CA1737375047 | CFTR | c.2797A= (p.Arg933=) c.*2511A= (n.*2511A=) c.2614A= (p.Arg872=) c.*1097A= (n.*1097A=) c.*2621A= (n.*2621A=) c.2371A= (p.Arg791=) c.388A= (p.Arg130=) c.447A= c.1579A= (p.Arg527=) c.2707A= (p.Arg903=) c.2887A= (p.Arg963=) c.2554A= (p.Arg852=) | |
7 | g.117603671A>C | CA457227978 | CFTR | c.2797A>C (p.Arg933=) c.*2511A>C (n.*2511A>C) c.2614A>C (p.Arg872=) c.*1097A>C (n.*1097A>C) c.*2621A>C (n.*2621A>C) c.2371A>C (p.Arg791=) c.388A>C (p.Arg130=) c.447A>C c.1579A>C (p.Arg527=) c.2707A>C (p.Arg903=) c.2887A>C (p.Arg963=) c.2554A>C (p.Arg852=) | |
7 | g.117603671A>G | CA326927 | CFTR | c.2797A>G (p.Arg933Gly) c.*2511A>G (n.*2511A>G) c.2614A>G (p.Arg872Gly) c.*1097A>G (n.*1097A>G) c.*2621A>G (n.*2621A>G) c.2371A>G (p.Arg791Gly) c.388A>G (p.Arg130Gly) c.447A>G c.1579A>G (p.Arg527Gly) c.2707A>G (p.Arg903Gly) c.2887A>G (p.Arg963Gly) c.2554A>G (p.Arg852Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603671A>T | CA368986890 | CFTR | c.2797A>T (p.Arg933Ter) c.*2511A>T (n.*2511A>T) c.2614A>T (p.Arg872Ter) c.*1097A>T (n.*1097A>T) c.*2621A>T (n.*2621A>T) c.2371A>T (p.Arg791Ter) c.388A>T (p.Arg130Ter) c.447A>T c.1579A>T (p.Arg527Ter) c.2707A>T (p.Arg903Ter) c.2887A>T (p.Arg963Ter) c.2554A>T (p.Arg852Ter) | |
7 | g.117603672G>A | CA368986894 | CFTR | c.2798G>A (p.Arg933Lys) c.*2512G>A (n.*2512G>A) c.2615G>A (p.Arg872Lys) c.*1098G>A (n.*1098G>A) c.*2622G>A (n.*2622G>A) c.2372G>A (p.Arg791Lys) c.389G>A (p.Arg130Lys) c.448G>A c.1580G>A (p.Arg527Lys) c.2708G>A (p.Arg903Lys) c.2888G>A (p.Arg963Lys) c.2555G>A (p.Arg852Lys) | |
7 | g.117603672G>C | CA368986898 | CFTR | c.2798G>C (p.Arg933Thr) c.*2512G>C (n.*2512G>C) c.2615G>C (p.Arg872Thr) c.*1098G>C (n.*1098G>C) c.*2622G>C (n.*2622G>C) c.2372G>C (p.Arg791Thr) c.389G>C (p.Arg130Thr) c.448G>C c.1580G>C (p.Arg527Thr) c.2708G>C (p.Arg903Thr) c.2888G>C (p.Arg963Thr) c.2555G>C (p.Arg852Thr) | |
7 | g.117603672G>T | CA368986900 | CFTR | c.2798G>T (p.Arg933Ile) c.*2512G>T (n.*2512G>T) c.2615G>T (p.Arg872Ile) c.*1098G>T (n.*1098G>T) c.*2622G>T (n.*2622G>T) c.2372G>T (p.Arg791Ile) c.389G>T (p.Arg130Ile) c.448G>T c.1580G>T (p.Arg527Ile) c.2708G>T (p.Arg903Ile) c.2888G>T (p.Arg963Ile) c.2555G>T (p.Arg852Ile) | |
7 | g.117603673A= | CA1737375055 | CFTR | c.2799A= (p.Arg933=) c.*2513A= (n.*2513A=) c.2616A= (p.Arg872=) c.*1099A= (n.*1099A=) c.*2623A= (n.*2623A=) c.2373A= (p.Arg791=) c.390A= (p.Arg130=) c.449A= c.1581A= (p.Arg527=) c.2709A= (p.Arg903=) c.2889A= (p.Arg963=) c.2556A= (p.Arg852=) | |
7 | g.117603673A>C | CA368986904 | CFTR | c.2799A>C (p.Arg933Ser) c.*2513A>C (n.*2513A>C) c.2616A>C (p.Arg872Ser) c.*1099A>C (n.*1099A>C) c.*2623A>C (n.*2623A>C) c.2373A>C (p.Arg791Ser) c.390A>C (p.Arg130Ser) c.449A>C c.1581A>C (p.Arg527Ser) c.2709A>C (p.Arg903Ser) c.2889A>C (p.Arg963Ser) c.2556A>C (p.Arg852Ser) | |
7 | g.117603673A>G | CA457227979 | CFTR | c.2799A>G (p.Arg933=) c.*2513A>G (n.*2513A>G) c.2616A>G (p.Arg872=) c.*1099A>G (n.*1099A>G) c.*2623A>G (n.*2623A>G) c.2373A>G (p.Arg791=) c.390A>G (p.Arg130=) c.449A>G c.1581A>G (p.Arg527=) c.2709A>G (p.Arg903=) c.2889A>G (p.Arg963=) c.2556A>G (p.Arg852=) | |
7 | g.117603673A>T | CA326929 | CFTR | c.2799A>T (p.Arg933Ser) c.*2513A>T (n.*2513A>T) c.2616A>T (p.Arg872Ser) c.*1099A>T (n.*1099A>T) c.*2623A>T (n.*2623A>T) c.2373A>T (p.Arg791Ser) c.390A>T (p.Arg130Ser) c.449A>T c.1581A>T (p.Arg527Ser) c.2709A>T (p.Arg903Ser) c.2889A>T (p.Arg963Ser) c.2556A>T (p.Arg852Ser) | ClinVar dbSNP |
7 | g.117603674G>A | CA4451288 | CFTR | c.2800G>A (p.Gly934Ser) c.*2514G>A (n.*2514G>A) c.2617G>A (p.Gly873Ser) c.*1100G>A (n.*1100G>A) c.*2624G>A (n.*2624G>A) c.2374G>A (p.Gly792Ser) c.391G>A (p.Gly131Ser) c.450G>A c.1582G>A (p.Gly528Ser) c.2710G>A (p.Gly904Ser) c.2890G>A (p.Gly964Ser) c.2557G>A (p.Gly853Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603674G>C | CA368986913 | CFTR | c.2800G>C (p.Gly934Arg) c.*2514G>C (n.*2514G>C) c.2617G>C (p.Gly873Arg) c.*1100G>C (n.*1100G>C) c.*2624G>C (n.*2624G>C) c.2374G>C (p.Gly792Arg) c.391G>C (p.Gly131Arg) c.450G>C c.1582G>C (p.Gly528Arg) c.2710G>C (p.Gly904Arg) c.2890G>C (p.Gly964Arg) c.2557G>C (p.Gly853Arg) | |
7 | g.117603674G= | CA1737375063 | CFTR | c.2800G= (p.Gly934=) c.*2514G= (n.*2514G=) c.2617G= (p.Gly873=) c.*1100G= (n.*1100G=) c.*2624G= (n.*2624G=) c.2374G= (p.Gly792=) c.391G= (p.Gly131=) c.450G= c.1582G= (p.Gly528=) c.2710G= (p.Gly904=) c.2890G= (p.Gly964=) c.2557G= (p.Gly853=) | |
7 | g.117603674G>T | CA368986915 | CFTR | c.2800G>T (p.Gly934Cys) c.*2514G>T (n.*2514G>T) c.2617G>T (p.Gly873Cys) c.*1100G>T (n.*1100G>T) c.*2624G>T (n.*2624G>T) c.2374G>T (p.Gly792Cys) c.391G>T (p.Gly131Cys) c.450G>T c.1582G>T (p.Gly528Cys) c.2710G>T (p.Gly904Cys) c.2890G>T (p.Gly964Cys) c.2557G>T (p.Gly853Cys) | |
7 | g.117603677_117603687del | CA2695208421 | CFTR | c.2803_2813del (p.Leu935AlafsTer?) c.*2517_*2527del (n.*2517_*2527del) c.2620_2630del (p.Leu874AlafsTer?) c.*1103_*1113del (n.*1103_*1113del) c.*2627_*2637del (n.*2627_*2637del) c.2377_2387del (p.Leu793AlafsTer?) c.394_404del (p.Leu132AlafsTer?) c.453_463del c.1585_1595del (p.Leu529AlafsTer?) c.2713_2723del (p.Leu905AlafsTer?) c.2893_2903del (p.Leu965AlafsTer?) c.2560_2570del (p.Leu854AlafsTer?) | |
7 | g.117603675G>A | CA368986918 | CFTR | c.2801G>A (p.Gly934Asp) c.*2515G>A (n.*2515G>A) c.2618G>A (p.Gly873Asp) c.*1101G>A (n.*1101G>A) c.*2625G>A (n.*2625G>A) c.2375G>A (p.Gly792Asp) c.392G>A (p.Gly131Asp) c.451G>A c.1583G>A (p.Gly528Asp) c.2711G>A (p.Gly904Asp) c.2891G>A (p.Gly964Asp) c.2558G>A (p.Gly853Asp) | |
7 | g.117603675G>C | CA368986924 | CFTR | c.2801G>C (p.Gly934Ala) c.*2515G>C (n.*2515G>C) c.2618G>C (p.Gly873Ala) c.*1101G>C (n.*1101G>C) c.*2625G>C (n.*2625G>C) c.2375G>C (p.Gly792Ala) c.392G>C (p.Gly131Ala) c.451G>C c.1583G>C (p.Gly528Ala) c.2711G>C (p.Gly904Ala) c.2891G>C (p.Gly964Ala) c.2558G>C (p.Gly853Ala) | |
7 | g.117603675G= | CA1737375068 | CFTR | c.2801G= (p.Gly934=) c.*2515G= (n.*2515G=) c.2618G= (p.Gly873=) c.*1101G= (n.*1101G=) c.*2625G= (n.*2625G=) c.2375G= (p.Gly792=) c.392G= (p.Gly131=) c.451G= c.1583G= (p.Gly528=) c.2711G= (p.Gly904=) c.2891G= (p.Gly964=) c.2558G= (p.Gly853=) | |
7 | g.117603675G>T | CA368986921 | CFTR | c.2801G>T (p.Gly934Val) c.*2515G>T (n.*2515G>T) c.2618G>T (p.Gly873Val) c.*1101G>T (n.*1101G>T) c.*2625G>T (n.*2625G>T) c.2375G>T (p.Gly792Val) c.392G>T (p.Gly131Val) c.451G>T c.1583G>T (p.Gly528Val) c.2711G>T (p.Gly904Val) c.2891G>T (p.Gly964Val) c.2558G>T (p.Gly853Val) | dbSNP |
7 | g.117603676T>A | CA457227980 | CFTR | c.2802T>A (p.Gly934=) c.*2516T>A (n.*2516T>A) c.2619T>A (p.Gly873=) c.*1102T>A (n.*1102T>A) c.*2626T>A (n.*2626T>A) c.2376T>A (p.Gly792=) c.393T>A (p.Gly131=) c.452T>A c.1584T>A (p.Gly528=) c.2712T>A (p.Gly904=) c.2892T>A (p.Gly964=) c.2559T>A (p.Gly853=) | |
7 | g.117603676T>C | CA457227982 | CFTR | c.2802T>C (p.Gly934=) c.*2516T>C (n.*2516T>C) c.2619T>C (p.Gly873=) c.*1102T>C (n.*1102T>C) c.*2626T>C (n.*2626T>C) c.2376T>C (p.Gly792=) c.393T>C (p.Gly131=) c.452T>C c.1584T>C (p.Gly528=) c.2712T>C (p.Gly904=) c.2892T>C (p.Gly964=) c.2559T>C (p.Gly853=) | ClinVar |
7 | g.117603676T>G | CA457227981 | CFTR | c.2802T>G (p.Gly934=) c.*2516T>G (n.*2516T>G) c.2619T>G (p.Gly873=) c.*1102T>G (n.*1102T>G) c.*2626T>G (n.*2626T>G) c.2376T>G (p.Gly792=) c.393T>G (p.Gly131=) c.452T>G c.1584T>G (p.Gly528=) c.2712T>G (p.Gly904=) c.2892T>G (p.Gly964=) c.2559T>G (p.Gly853=) | |
7 | g.117603677C>A | CA368986928 | CFTR | c.2803C>A (p.Leu935Ile) c.*2517C>A (n.*2517C>A) c.2620C>A (p.Leu874Ile) c.*1103C>A (n.*1103C>A) c.*2627C>A (n.*2627C>A) c.2377C>A (p.Leu793Ile) c.394C>A (p.Leu132Ile) c.453C>A c.1585C>A (p.Leu529Ile) c.2713C>A (p.Leu905Ile) c.2893C>A (p.Leu965Ile) c.2560C>A (p.Leu854Ile) | |
7 | g.117603677C>G | CA368986931 | CFTR | c.2803C>G (p.Leu935Val) c.*2517C>G (n.*2517C>G) c.2620C>G (p.Leu874Val) c.*1103C>G (n.*1103C>G) c.*2627C>G (n.*2627C>G) c.2377C>G (p.Leu793Val) c.394C>G (p.Leu132Val) c.453C>G c.1585C>G (p.Leu529Val) c.2713C>G (p.Leu905Val) c.2893C>G (p.Leu965Val) c.2560C>G (p.Leu854Val) | |
7 | g.117603677C>T | CA457227983 | CFTR | c.2803C>T (p.Leu935=) c.*2517C>T (n.*2517C>T) c.2620C>T (p.Leu874=) c.*1103C>T (n.*1103C>T) c.*2627C>T (n.*2627C>T) c.2377C>T (p.Leu793=) c.394C>T (p.Leu132=) c.453C>T c.1585C>T (p.Leu529=) c.2713C>T (p.Leu905=) c.2893C>T (p.Leu965=) c.2560C>T (p.Leu854=) | |
7 | g.117603678T>A | CA368986935 | CFTR | c.2804T>A (p.Leu935Gln) c.*2518T>A (n.*2518T>A) c.2621T>A (p.Leu874Gln) c.*1104T>A (n.*1104T>A) c.*2628T>A (n.*2628T>A) c.2378T>A (p.Leu793Gln) c.395T>A (p.Leu132Gln) c.454T>A c.1586T>A (p.Leu529Gln) c.2714T>A (p.Leu905Gln) c.2894T>A (p.Leu965Gln) c.2561T>A (p.Leu854Gln) | |
7 | g.117603678T>C | CA368986943 | CFTR | c.2804T>C (p.Leu935Pro) c.*2518T>C (n.*2518T>C) c.2621T>C (p.Leu874Pro) c.*1104T>C (n.*1104T>C) c.*2628T>C (n.*2628T>C) c.2378T>C (p.Leu793Pro) c.395T>C (p.Leu132Pro) c.454T>C c.1586T>C (p.Leu529Pro) c.2714T>C (p.Leu905Pro) c.2894T>C (p.Leu965Pro) c.2561T>C (p.Leu854Pro) | |
7 | g.117603678T>G | CA368986939 | CFTR | c.2804T>G (p.Leu935Arg) c.*2518T>G (n.*2518T>G) c.2621T>G (p.Leu874Arg) c.*1104T>G (n.*1104T>G) c.*2628T>G (n.*2628T>G) c.2378T>G (p.Leu793Arg) c.395T>G (p.Leu132Arg) c.454T>G c.1586T>G (p.Leu529Arg) c.2714T>G (p.Leu905Arg) c.2894T>G (p.Leu965Arg) c.2561T>G (p.Leu854Arg) | |
7 | g.117603678_117603684delinsTACCACT | CA1737375071 | CFTR | c.2804_2810delinsTACCACT (p.Leu935=) c.*2518_*2524delinsTACCACT (n.*2518_*2524delinsTACCACT) c.2621_2627delinsTACCACT (p.Leu874=) c.*1104_*1110delinsTACCACT (n.*1104_*1110delinsTACCACT) c.*2628_*2634delinsTACCACT (n.*2628_*2634delinsTACCACT) c.2378_2384delinsTACCACT (p.Leu793=) c.395_401delinsTACCACT (p.Leu132=) c.454_460delinsTACCACT c.1586_1592delinsTACCACT (p.Leu529=) c.2714_2720delinsTACCACT (p.Leu905=) c.2894_2900delinsTACCACT (p.Leu965=) c.2561_2567delinsTACCACT (p.Leu854=) | |
7 | g.117603679del | CA2684587830 | CFTR | c.2805del (p.Pro936HisfsTer6) c.*2519del (n.*2519del) c.2622del (p.Pro875HisfsTer6) c.*1105del (n.*1105del) c.*2629del (n.*2629del) c.2379del (p.Pro794HisfsTer6) c.396del (p.Pro133HisfsTer6) c.455del c.1587del (p.Pro530HisfsTer6) c.2715del (p.Pro906HisfsTer6) c.2895del (p.Pro966HisfsTer6) c.2562del (p.Pro855HisfsTer6) | gnomAD v4 |
7 | g.117603679A= | CA1737375080 | CFTR | c.2805A= (p.Leu935=) c.*2519A= (n.*2519A=) c.2622A= (p.Leu874=) c.*1105A= (n.*1105A=) c.*2629A= (n.*2629A=) c.2379A= (p.Leu793=) c.396A= (p.Leu132=) c.455A= c.1587A= (p.Leu529=) c.2715A= (p.Leu905=) c.2895A= (p.Leu965=) c.2562A= (p.Leu854=) | |
7 | g.117603679A>C | CA457227984 | CFTR | c.2805A>C (p.Leu935=) c.*2519A>C (n.*2519A>C) c.2622A>C (p.Leu874=) c.*1105A>C (n.*1105A>C) c.*2629A>C (n.*2629A>C) c.2379A>C (p.Leu793=) c.396A>C (p.Leu132=) c.455A>C c.1587A>C (p.Leu529=) c.2715A>C (p.Leu905=) c.2895A>C (p.Leu965=) c.2562A>C (p.Leu854=) | |
7 | g.117603679A>G | CA4451289 | CFTR | c.2805A>G (p.Leu935=) c.*2519A>G (n.*2519A>G) c.2622A>G (p.Leu874=) c.*1105A>G (n.*1105A>G) c.*2629A>G (n.*2629A>G) c.2379A>G (p.Leu793=) c.396A>G (p.Leu132=) c.455A>G c.1587A>G (p.Leu529=) c.2715A>G (p.Leu905=) c.2895A>G (p.Leu965=) c.2562A>G (p.Leu854=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603679A>T | CA457227985 | CFTR | c.2805A>T (p.Leu935=) c.*2519A>T (n.*2519A>T) c.2622A>T (p.Leu874=) c.*1105A>T (n.*1105A>T) c.*2629A>T (n.*2629A>T) c.2379A>T (p.Leu793=) c.396A>T (p.Leu132=) c.455A>T c.1587A>T (p.Leu529=) c.2715A>T (p.Leu905=) c.2895A>T (p.Leu965=) c.2562A>T (p.Leu854=) | |
7 | g.117603679_117603680delinsAC | CA1737375077 | CFTR | c.2805_2806delinsAC (p.Leu935=) c.*2519_*2520delinsAC (n.*2519_*2520delinsAC) c.2622_2623delinsAC (p.Leu874=) c.*1105_*1106delinsAC (n.*1105_*1106delinsAC) c.*2629_*2630delinsAC (n.*2629_*2630delinsAC) c.2379_2380delinsAC (p.Leu793=) c.396_397delinsAC (p.Leu132=) c.455_456delinsAC c.1587_1588delinsAC (p.Leu529=) c.2715_2716delinsAC (p.Leu905=) c.2895_2896delinsAC (p.Leu965=) c.2562_2563delinsAC (p.Leu854=) | |
7 | g.117603679_117603684delinsTCAGA | CA645509184 | CFTR | c.2805_2810delinsTCAGA (p.Pro936GlnfsTer6) c.*2519_*2524delinsTCAGA (n.*2519_*2524delinsTCAGA) c.2622_2627delinsTCAGA (p.Pro875GlnfsTer6) c.*1105_*1110delinsTCAGA (n.*1105_*1110delinsTCAGA) c.*2629_*2634delinsTCAGA (n.*2629_*2634delinsTCAGA) c.2379_2384delinsTCAGA (p.Pro794GlnfsTer6) c.396_401delinsTCAGA (p.Pro133GlnfsTer6) c.455_460delinsTCAGA c.1587_1592delinsTCAGA (p.Pro530GlnfsTer6) c.2715_2720delinsTCAGA (p.Pro906GlnfsTer6) c.2895_2900delinsTCAGA (p.Pro966GlnfsTer6) c.2562_2567delinsTCAGA (p.Pro855GlnfsTer6) | ClinVar dbSNP |
7 | g.117603680C>A | CA4451290 | CFTR | c.2806C>A (p.Pro936Thr) c.*2520C>A (n.*2520C>A) c.2623C>A (p.Pro875Thr) c.*1106C>A (n.*1106C>A) c.*2630C>A (n.*2630C>A) c.2380C>A (p.Pro794Thr) c.397C>A (p.Pro133Thr) c.456C>A c.1588C>A (p.Pro530Thr) c.2716C>A (p.Pro906Thr) c.2896C>A (p.Pro966Thr) c.2563C>A (p.Pro855Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603680C= | CA1737375091 | CFTR | c.2806C= (p.Pro936=) c.*2520C= (n.*2520C=) c.2623C= (p.Pro875=) c.*1106C= (n.*1106C=) c.*2630C= (n.*2630C=) c.2380C= (p.Pro794=) c.397C= (p.Pro133=) c.456C= c.1588C= (p.Pro530=) c.2716C= (p.Pro906=) c.2896C= (p.Pro966=) c.2563C= (p.Pro855=) | |
7 | g.117603680C>G | CA368986952 | CFTR | c.2806C>G (p.Pro936Ala) c.*2520C>G (n.*2520C>G) c.2623C>G (p.Pro875Ala) c.*1106C>G (n.*1106C>G) c.*2630C>G (n.*2630C>G) c.2380C>G (p.Pro794Ala) c.397C>G (p.Pro133Ala) c.456C>G c.1588C>G (p.Pro530Ala) c.2716C>G (p.Pro906Ala) c.2896C>G (p.Pro966Ala) c.2563C>G (p.Pro855Ala) | |
7 | g.117603680C>T | CA368986956 | CFTR | c.2806C>T (p.Pro936Ser) c.*2520C>T (n.*2520C>T) c.2623C>T (p.Pro875Ser) c.*1106C>T (n.*1106C>T) c.*2630C>T (n.*2630C>T) c.2380C>T (p.Pro794Ser) c.397C>T (p.Pro133Ser) c.456C>T c.1588C>T (p.Pro530Ser) c.2716C>T (p.Pro906Ser) c.2896C>T (p.Pro966Ser) c.2563C>T (p.Pro855Ser) | ClinVar gnomAD v4 |
7 | g.117603681del | CA577680774 | CFTR | c.2807del (p.Pro936HisfsTer6) c.*2521del (n.*2521del) c.2624del (p.Pro875HisfsTer6) c.*1107del (n.*1107del) c.*2631del (n.*2631del) c.2381del (p.Pro794HisfsTer6) c.398del (p.Pro133HisfsTer6) c.457del c.1589del (p.Pro530HisfsTer6) c.2717del (p.Pro906HisfsTer6) c.2897del (p.Pro966HisfsTer6) c.2564del (p.Pro855HisfsTer6) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603681C>A | CA368986966 | CFTR | c.2807C>A (p.Pro936Gln) c.*2521C>A (n.*2521C>A) c.2624C>A (p.Pro875Gln) c.*1107C>A (n.*1107C>A) c.*2631C>A (n.*2631C>A) c.2381C>A (p.Pro794Gln) c.398C>A (p.Pro133Gln) c.457C>A c.1589C>A (p.Pro530Gln) c.2717C>A (p.Pro906Gln) c.2897C>A (p.Pro966Gln) c.2564C>A (p.Pro855Gln) | |
7 | g.117603681C= | CA1737375101 | CFTR | c.2807C= (p.Pro936=) c.*2521C= (n.*2521C=) c.2624C= (p.Pro875=) c.*1107C= (n.*1107C=) c.*2631C= (n.*2631C=) c.2381C= (p.Pro794=) c.398C= (p.Pro133=) c.457C= c.1589C= (p.Pro530=) c.2717C= (p.Pro906=) c.2897C= (p.Pro966=) c.2564C= (p.Pro855=) | |
7 | g.117603681C>G | CA368986971 | CFTR | c.2807C>G (p.Pro936Arg) c.*2521C>G (n.*2521C>G) c.2624C>G (p.Pro875Arg) c.*1107C>G (n.*1107C>G) c.*2631C>G (n.*2631C>G) c.2381C>G (p.Pro794Arg) c.398C>G (p.Pro133Arg) c.457C>G c.1589C>G (p.Pro530Arg) c.2717C>G (p.Pro906Arg) c.2897C>G (p.Pro966Arg) c.2564C>G (p.Pro855Arg) | ClinVar |
7 | g.117603681C>T | CA368986969 | CFTR | c.2807C>T (p.Pro936Leu) c.*2521C>T (n.*2521C>T) c.2624C>T (p.Pro875Leu) c.*1107C>T (n.*1107C>T) c.*2631C>T (n.*2631C>T) c.2381C>T (p.Pro794Leu) c.398C>T (p.Pro133Leu) c.457C>T c.1589C>T (p.Pro530Leu) c.2717C>T (p.Pro906Leu) c.2897C>T (p.Pro966Leu) c.2564C>T (p.Pro855Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603682A= | CA1737375109 | CFTR | c.2808A= (p.Pro936=) c.*2522A= (n.*2522A=) c.2625A= (p.Pro875=) c.*1108A= (n.*1108A=) c.*2632A= (n.*2632A=) c.2382A= (p.Pro794=) c.399A= (p.Pro133=) c.458A= c.1590A= (p.Pro530=) c.2718A= (p.Pro906=) c.2898A= (p.Pro966=) c.2565A= (p.Pro855=) | |
7 | g.117603682A>C | CA457227986 | CFTR | c.2808A>C (p.Pro936=) c.*2522A>C (n.*2522A>C) c.2625A>C (p.Pro875=) c.*1108A>C (n.*1108A>C) c.*2632A>C (n.*2632A>C) c.2382A>C (p.Pro794=) c.399A>C (p.Pro133=) c.458A>C c.1590A>C (p.Pro530=) c.2718A>C (p.Pro906=) c.2898A>C (p.Pro966=) c.2565A>C (p.Pro855=) | |
7 | g.117603682A>G | CA326931 | CFTR | c.2808A>G (p.Pro936=) c.*2522A>G (n.*2522A>G) c.2625A>G (p.Pro875=) c.*1108A>G (n.*1108A>G) c.*2632A>G (n.*2632A>G) c.2382A>G (p.Pro794=) c.399A>G (p.Pro133=) c.458A>G c.1590A>G (p.Pro530=) c.2718A>G (p.Pro906=) c.2898A>G (p.Pro966=) c.2565A>G (p.Pro855=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603682A>T | CA457227987 | CFTR | c.2808A>T (p.Pro936=) c.*2522A>T (n.*2522A>T) c.2625A>T (p.Pro875=) c.*1108A>T (n.*1108A>T) c.*2632A>T (n.*2632A>T) c.2382A>T (p.Pro794=) c.399A>T (p.Pro133=) c.458A>T c.1590A>T (p.Pro530=) c.2718A>T (p.Pro906=) c.2898A>T (p.Pro966=) c.2565A>T (p.Pro855=) | |
7 | g.117603683C>A | CA368986978 | CFTR | c.2809C>A (p.Leu937Met) c.*2523C>A (n.*2523C>A) c.2626C>A (p.Leu876Met) c.*1109C>A (n.*1109C>A) c.*2633C>A (n.*2633C>A) c.2383C>A (p.Leu795Met) c.400C>A (p.Leu134Met) c.459C>A c.1591C>A (p.Leu531Met) c.2719C>A (p.Leu907Met) c.2899C>A (p.Leu967Met) c.2566C>A (p.Leu856Met) | |
7 | g.117603683C= | CA1737375113 | CFTR | c.2809C= (p.Leu937=) c.*2523C= (n.*2523C=) c.2626C= (p.Leu876=) c.*1109C= (n.*1109C=) c.*2633C= (n.*2633C=) c.2383C= (p.Leu795=) c.400C= (p.Leu134=) c.459C= c.1591C= (p.Leu531=) c.2719C= (p.Leu907=) c.2899C= (p.Leu967=) c.2566C= (p.Leu856=) | |
7 | g.117603683C>G | CA368986976 | CFTR | c.2809C>G (p.Leu937Val) c.*2523C>G (n.*2523C>G) c.2626C>G (p.Leu876Val) c.*1109C>G (n.*1109C>G) c.*2633C>G (n.*2633C>G) c.2383C>G (p.Leu795Val) c.400C>G (p.Leu134Val) c.459C>G c.1591C>G (p.Leu531Val) c.2719C>G (p.Leu907Val) c.2899C>G (p.Leu967Val) c.2566C>G (p.Leu856Val) | ClinVar gnomAD v4 |
7 | g.117603683C>T | CA457227988 | CFTR | c.2809C>T (p.Leu937=) c.*2523C>T (n.*2523C>T) c.2626C>T (p.Leu876=) c.*1109C>T (n.*1109C>T) c.*2633C>T (n.*2633C>T) c.2383C>T (p.Leu795=) c.400C>T (p.Leu134=) c.459C>T c.1591C>T (p.Leu531=) c.2719C>T (p.Leu907=) c.2899C>T (p.Leu967=) c.2566C>T (p.Leu856=) | |
7 | g.117603683_117603686delinsCTGG | CA1737375114 | CFTR | c.2809_2812delinsCTGG (p.Leu937=) c.*2523_*2526delinsCTGG (n.*2523_*2526delinsCTGG) c.2626_2629delinsCTGG (p.Leu876=) c.*1109_*1112delinsCTGG (n.*1109_*1112delinsCTGG) c.*2633_*2636delinsCTGG (n.*2633_*2636delinsCTGG) c.2383_2386delinsCTGG (p.Leu795=) c.400_403delinsCTGG (p.Leu134=) c.459_462delinsCTGG c.1591_1594delinsCTGG (p.Leu531=) c.2719_2722delinsCTGG (p.Leu907=) c.2899_2902delinsCTGG (p.Leu967=) c.2566_2569delinsCTGG (p.Leu856=) | |
7 | g.117603684T>A | CA368986985 | CFTR | c.2810T>A (p.Leu937Gln) c.*2524T>A (n.*2524T>A) c.2627T>A (p.Leu876Gln) c.*1110T>A (n.*1110T>A) c.*2634T>A (n.*2634T>A) c.2384T>A (p.Leu795Gln) c.401T>A (p.Leu134Gln) c.460T>A c.1592T>A (p.Leu531Gln) c.2720T>A (p.Leu907Gln) c.2900T>A (p.Leu967Gln) c.2567T>A (p.Leu856Gln) | gnomAD v4 |
7 | g.117603684T>C | CA368986980 | CFTR | c.2810T>C (p.Leu937Pro) c.*2524T>C (n.*2524T>C) c.2627T>C (p.Leu876Pro) c.*1110T>C (n.*1110T>C) c.*2634T>C (n.*2634T>C) c.2384T>C (p.Leu795Pro) c.401T>C (p.Leu134Pro) c.460T>C c.1592T>C (p.Leu531Pro) c.2720T>C (p.Leu907Pro) c.2900T>C (p.Leu967Pro) c.2567T>C (p.Leu856Pro) | ClinVar |
7 | g.117603684T>G | CA368986984 | CFTR | c.2810T>G (p.Leu937Arg) c.*2524T>G (n.*2524T>G) c.2627T>G (p.Leu876Arg) c.*1110T>G (n.*1110T>G) c.*2634T>G (n.*2634T>G) c.2384T>G (p.Leu795Arg) c.401T>G (p.Leu134Arg) c.460T>G c.1592T>G (p.Leu531Arg) c.2720T>G (p.Leu907Arg) c.2900T>G (p.Leu967Arg) c.2567T>G (p.Leu856Arg) | |
7 | g.117603684T= | CA1737375131 | CFTR | c.2810T= (p.Leu937=) c.*2524T= (n.*2524T=) c.2627T= (p.Leu876=) c.*1110T= (n.*1110T=) c.*2634T= (n.*2634T=) c.2384T= (p.Leu795=) c.401T= (p.Leu134=) c.460T= c.1592T= (p.Leu531=) c.2720T= (p.Leu907=) c.2900T= (p.Leu967=) c.2567T= (p.Leu856=) | |
7 | g.117603684dup | CA260224 | CFTR | c.2810dup (p.Val938GlyfsTer?) c.*2524dup (n.*2524dup) c.2627dup (p.Val877GlyfsTer?) c.*1110dup (n.*1110dup) c.*2634dup (n.*2634dup) c.2384dup (p.Val796GlyfsTer?) c.401dup (p.Val135GlyfsTer?) c.460dup c.1592dup (p.Val532GlyfsTer?) c.2720dup (p.Val908GlyfsTer?) c.2900dup (p.Val968GlyfsTer?) c.2567dup (p.Val857GlyfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603686_117603688del | CA577680775 | CFTR | c.2812_2814del (p.Val938del) c.*2526_*2528del (n.*2526_*2528del) c.2629_2631del (p.Val877del) c.*1112_*1114del (n.*1112_*1114del) c.*2636_*2638del (n.*2636_*2638del) c.2386_2388del (p.Val796del) c.403_405del (p.Val135del) c.462_464del c.1594_1596del (p.Val532del) c.2722_2724del (p.Val908del) c.2902_2904del (p.Val968del) c.2569_2571del (p.Val857del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603685G>A | CA457227989 | CFTR | c.2811G>A (p.Leu937=) c.*2525G>A (n.*2525G>A) c.2628G>A (p.Leu876=) c.*1111G>A (n.*1111G>A) c.*2635G>A (n.*2635G>A) c.2385G>A (p.Leu795=) c.402G>A (p.Leu134=) c.461G>A c.1593G>A (p.Leu531=) c.2721G>A (p.Leu907=) c.2901G>A (p.Leu967=) c.2568G>A (p.Leu856=) | |
7 | g.117603685G>C | CA457227990 | CFTR | c.2811G>C (p.Leu937=) c.*2525G>C (n.*2525G>C) c.2628G>C (p.Leu876=) c.*1111G>C (n.*1111G>C) c.*2635G>C (n.*2635G>C) c.2385G>C (p.Leu795=) c.402G>C (p.Leu134=) c.461G>C c.1593G>C (p.Leu531=) c.2721G>C (p.Leu907=) c.2901G>C (p.Leu967=) c.2568G>C (p.Leu856=) | |
7 | g.117603685G>T | CA457227991 | CFTR | c.2811G>T (p.Leu937=) c.*2525G>T (n.*2525G>T) c.2628G>T (p.Leu876=) c.*1111G>T (n.*1111G>T) c.*2635G>T (n.*2635G>T) c.2385G>T (p.Leu795=) c.402G>T (p.Leu134=) c.461G>T c.1593G>T (p.Leu531=) c.2721G>T (p.Leu907=) c.2901G>T (p.Leu967=) c.2568G>T (p.Leu856=) | ClinVar |
7 | g.117603686dup | CA913190198 | CFTR | c.2812dup (p.Val938GlyfsTer?) c.*2526dup (n.*2526dup) c.2629dup (p.Val877GlyfsTer?) c.*1112dup (n.*1112dup) c.*2636dup (n.*2636dup) c.2386dup (p.Val796GlyfsTer?) c.403dup (p.Val135GlyfsTer?) c.462dup c.1594dup (p.Val532GlyfsTer?) c.2722dup (p.Val908GlyfsTer?) c.2902dup (p.Val968GlyfsTer?) c.2569dup (p.Val857GlyfsTer?) | ClinVar dbSNP |
7 | g.117603686G>A | CA164960239 | CFTR | c.2812G>A (p.Val938Met) c.*2526G>A (n.*2526G>A) c.2629G>A (p.Val877Met) c.*1112G>A (n.*1112G>A) c.*2636G>A (n.*2636G>A) c.2386G>A (p.Val796Met) c.403G>A (p.Val135Met) c.462G>A c.1594G>A (p.Val532Met) c.2722G>A (p.Val908Met) c.2902G>A (p.Val968Met) c.2569G>A (p.Val857Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603686G>C | CA4451291 | CFTR | c.2812G>C (p.Val938Leu) c.*2526G>C (n.*2526G>C) c.2629G>C (p.Val877Leu) c.*1112G>C (n.*1112G>C) c.*2636G>C (n.*2636G>C) c.2386G>C (p.Val796Leu) c.403G>C (p.Val135Leu) c.462G>C c.1594G>C (p.Val532Leu) c.2722G>C (p.Val908Leu) c.2902G>C (p.Val968Leu) c.2569G>C (p.Val857Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603686G= | CA1737375160 | CFTR | c.2812G= (p.Val938=) c.*2526G= (n.*2526G=) c.2629G= (p.Val877=) c.*1112G= (n.*1112G=) c.*2636G= (n.*2636G=) c.2386G= (p.Val796=) c.403G= (p.Val135=) c.462G= c.1594G= (p.Val532=) c.2722G= (p.Val908=) c.2902G= (p.Val968=) c.2569G= (p.Val857=) | |
7 | g.117603686G>T | CA4451292 | CFTR | c.2812G>T (p.Val938Leu) c.*2526G>T (n.*2526G>T) c.2629G>T (p.Val877Leu) c.*1112G>T (n.*1112G>T) c.*2636G>T (n.*2636G>T) c.2386G>T (p.Val796Leu) c.403G>T (p.Val135Leu) c.462G>T c.1594G>T (p.Val532Leu) c.2722G>T (p.Val908Leu) c.2902G>T (p.Val968Leu) c.2569G>T (p.Val857Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603687T>A | CA368986997 | CFTR | c.2813T>A (p.Val938Glu) c.*2527T>A (n.*2527T>A) c.2630T>A (p.Val877Glu) c.*1113T>A (n.*1113T>A) c.*2637T>A (n.*2637T>A) c.2387T>A (p.Val796Glu) c.404T>A (p.Val135Glu) c.463T>A c.1595T>A (p.Val532Glu) c.2723T>A (p.Val908Glu) c.2903T>A (p.Val968Glu) c.2570T>A (p.Val857Glu) | |
7 | g.117603687T>C | CA368987000 | CFTR | c.2813T>C (p.Val938Ala) c.*2527T>C (n.*2527T>C) c.2630T>C (p.Val877Ala) c.*1113T>C (n.*1113T>C) c.*2637T>C (n.*2637T>C) c.2387T>C (p.Val796Ala) c.404T>C (p.Val135Ala) c.463T>C c.1595T>C (p.Val532Ala) c.2723T>C (p.Val908Ala) c.2903T>C (p.Val968Ala) c.2570T>C (p.Val857Ala) | |
7 | g.117603687T>G | CA260225 | CFTR | c.2813T>G (p.Val938Gly) c.*2527T>G (n.*2527T>G) c.2630T>G (p.Val877Gly) c.*1113T>G (n.*1113T>G) c.*2637T>G (n.*2637T>G) c.2387T>G (p.Val796Gly) c.404T>G (p.Val135Gly) c.463T>G c.1595T>G (p.Val532Gly) c.2723T>G (p.Val908Gly) c.2903T>G (p.Val968Gly) c.2570T>G (p.Val857Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603687T= | CA1737375168 | CFTR | c.2813T= (p.Val938=) c.*2527T= (n.*2527T=) c.2630T= (p.Val877=) c.*1113T= (n.*1113T=) c.*2637T= (n.*2637T=) c.2387T= (p.Val796=) c.404T= (p.Val135=) c.463T= c.1595T= (p.Val532=) c.2723T= (p.Val908=) c.2903T= (p.Val968=) c.2570T= (p.Val857=) | |
7 | g.117603688G>A | CA457227993 | CFTR | c.2814G>A (p.Val938=) c.*2528G>A (n.*2528G>A) c.2631G>A (p.Val877=) c.*1114G>A (n.*1114G>A) c.*2638G>A (n.*2638G>A) c.2388G>A (p.Val796=) c.405G>A (p.Val135=) c.464G>A c.1596G>A (p.Val532=) c.2724G>A (p.Val908=) c.2904G>A (p.Val968=) c.2571G>A (p.Val857=) | |
7 | g.117603688G>C | CA457227994 | CFTR | c.2814G>C (p.Val938=) c.*2528G>C (n.*2528G>C) c.2631G>C (p.Val877=) c.*1114G>C (n.*1114G>C) c.*2638G>C (n.*2638G>C) c.2388G>C (p.Val796=) c.405G>C (p.Val135=) c.464G>C c.1596G>C (p.Val532=) c.2724G>C (p.Val908=) c.2904G>C (p.Val968=) c.2571G>C (p.Val857=) | |
7 | g.117603688G>T | CA457227995 | CFTR | c.2814G>T (p.Val938=) c.*2528G>T (n.*2528G>T) c.2631G>T (p.Val877=) c.*1114G>T (n.*1114G>T) c.*2638G>T (n.*2638G>T) c.2388G>T (p.Val796=) c.405G>T (p.Val135=) c.464G>T c.1596G>T (p.Val532=) c.2724G>T (p.Val908=) c.2904G>T (p.Val968=) c.2571G>T (p.Val857=) | |
7 | g.117603689C>A | CA368987005 | CFTR | c.2815C>A (p.His939Asn) c.*2529C>A (n.*2529C>A) c.2632C>A (p.His878Asn) c.*1115C>A (n.*1115C>A) c.*2639C>A (n.*2639C>A) c.2389C>A (p.His797Asn) c.406C>A (p.His136Asn) c.465C>A c.1597C>A (p.His533Asn) c.2725C>A (p.His909Asn) c.2905C>A (p.His969Asn) c.2572C>A (p.His858Asn) | |
7 | g.117603689C= | CA1737375185 | CFTR | c.2815C= (p.His939=) c.*2529C= (n.*2529C=) c.2632C= (p.His878=) c.*1115C= (n.*1115C=) c.*2639C= (n.*2639C=) c.2389C= (p.His797=) c.406C= (p.His136=) c.465C= c.1597C= (p.His533=) c.2725C= (p.His909=) c.2905C= (p.His969=) c.2572C= (p.His858=) | |
7 | g.117603689C>G | CA326933 | CFTR | c.2815C>G (p.His939Asp) c.*2529C>G (n.*2529C>G) c.2632C>G (p.His878Asp) c.*1115C>G (n.*1115C>G) c.*2639C>G (n.*2639C>G) c.2389C>G (p.His797Asp) c.406C>G (p.His136Asp) c.465C>G c.1597C>G (p.His533Asp) c.2725C>G (p.His909Asp) c.2905C>G (p.His969Asp) c.2572C>G (p.His858Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603689C>T | CA368987010 | CFTR | c.2815C>T (p.His939Tyr) c.*2529C>T (n.*2529C>T) c.2632C>T (p.His878Tyr) c.*1115C>T (n.*1115C>T) c.*2639C>T (n.*2639C>T) c.2389C>T (p.His797Tyr) c.406C>T (p.His136Tyr) c.465C>T c.1597C>T (p.His533Tyr) c.2725C>T (p.His909Tyr) c.2905C>T (p.His969Tyr) c.2572C>T (p.His858Tyr) | |
7 | g.117603690A= | CA1737375199 | CFTR | c.2816A= (p.His939=) c.*2530A= (n.*2530A=) c.2633A= (p.His878=) c.*1116A= (n.*1116A=) c.*2640A= (n.*2640A=) c.2390A= (p.His797=) c.407A= (p.His136=) c.466A= c.1598A= (p.His533=) c.2726A= (p.His909=) c.2906A= (p.His969=) c.2573A= (p.His858=) | |
7 | g.117603690A>C | CA368987019 | CFTR | c.2816A>C (p.His939Pro) c.*2530A>C (n.*2530A>C) c.2633A>C (p.His878Pro) c.*1116A>C (n.*1116A>C) c.*2640A>C (n.*2640A>C) c.2390A>C (p.His797Pro) c.407A>C (p.His136Pro) c.466A>C c.1598A>C (p.His533Pro) c.2726A>C (p.His909Pro) c.2906A>C (p.His969Pro) c.2573A>C (p.His858Pro) | |
7 | g.117603690A>G | CA326935 | CFTR | c.2816A>G (p.His939Arg) c.*2530A>G (n.*2530A>G) c.2633A>G (p.His878Arg) c.*1116A>G (n.*1116A>G) c.*2640A>G (n.*2640A>G) c.2390A>G (p.His797Arg) c.407A>G (p.His136Arg) c.466A>G c.1598A>G (p.His533Arg) c.2726A>G (p.His909Arg) c.2906A>G (p.His969Arg) c.2573A>G (p.His858Arg) | ClinVar dbSNP |
7 | g.[117603690A>G;117603720A>T] | CA2499306165 | CFTR | c.[2816A>G;2846A>T] (p.[His939Arg;His949Leu]) c.[*2530A>G;*2560A>T] (n.[*2530A>G;*2560A>T]) c.[2633A>G;2663A>T] (p.[His878Arg;His888Leu]) c.[*1116A>G;*1146A>T] (n.[*1116A>G;*1146A>T]) c.[*2640A>G;*2670A>T] (n.[*2640A>G;*2670A>T]) c.[2390A>G;2420A>T] (p.[His797Arg;His807Leu]) c.[407A>G;437A>T] (p.[His136Arg;His146Leu]) c.[466A>G;496A>T] c.[1598A>G;1628A>T] (p.[His533Arg;His543Leu]) c.[2726A>G;2756A>T] (p.[His909Arg;His919Leu]) c.[2906A>G;2936A>T] (p.[His969Arg;His979Leu]) c.[2573A>G;2603A>T] (p.[His858Arg;His868Leu]) | |
7 | g.117603690A>T | CA368987014 | CFTR | c.2816A>T (p.His939Leu) c.*2530A>T (n.*2530A>T) c.2633A>T (p.His878Leu) c.*1116A>T (n.*1116A>T) c.*2640A>T (n.*2640A>T) c.2390A>T (p.His797Leu) c.407A>T (p.His136Leu) c.466A>T c.1598A>T (p.His533Leu) c.2726A>T (p.His909Leu) c.2906A>T (p.His969Leu) c.2573A>T (p.His858Leu) | |
7 | g.117603690_117603691delinsC | CA2695208422 | CFTR | c.2816_2817delinsC (p.His939ProfsTer3) c.*2530_*2531delinsC (n.*2530_*2531delinsC) c.2633_2634delinsC (p.His878ProfsTer3) c.*1116_*1117delinsC (n.*1116_*1117delinsC) c.*2640_*2641delinsC (n.*2640_*2641delinsC) c.2390_2391delinsC (p.His797ProfsTer3) c.407_408delinsC (p.His136ProfsTer3) c.466_467delinsC c.1598_1599delinsC (p.His533ProfsTer3) c.2726_2727delinsC (p.His909ProfsTer3) c.2906_2907delinsC (p.His969ProfsTer3) c.2573_2574delinsC (p.His858ProfsTer3) | |
7 | g.117603691T>A | CA4451293 | CFTR | c.2817T>A (p.His939Gln) c.*2531T>A (n.*2531T>A) c.2634T>A (p.His878Gln) c.*1117T>A (n.*1117T>A) c.*2641T>A (n.*2641T>A) c.2391T>A (p.His797Gln) c.408T>A (p.His136Gln) c.467T>A c.1599T>A (p.His533Gln) c.2727T>A (p.His909Gln) c.2907T>A (p.His969Gln) c.2574T>A (p.His858Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603691T>C | CA457227996 | CFTR | c.2817T>C (p.His939=) c.*2531T>C (n.*2531T>C) c.2634T>C (p.His878=) c.*1117T>C (n.*1117T>C) c.*2641T>C (n.*2641T>C) c.2391T>C (p.His797=) c.408T>C (p.His136=) c.467T>C c.1599T>C (p.His533=) c.2727T>C (p.His909=) c.2907T>C (p.His969=) c.2574T>C (p.His858=) | ClinVar dbSNP |
7 | g.117603691T>G | CA368987025 | CFTR | c.2817T>G (p.His939Gln) c.*2531T>G (n.*2531T>G) c.2634T>G (p.His878Gln) c.*1117T>G (n.*1117T>G) c.*2641T>G (n.*2641T>G) c.2391T>G (p.His797Gln) c.408T>G (p.His136Gln) c.467T>G c.1599T>G (p.His533Gln) c.2727T>G (p.His909Gln) c.2907T>G (p.His969Gln) c.2574T>G (p.His858Gln) | |
7 | g.117603691T= | CA1737375202 | CFTR | c.2817T= (p.His939=) c.*2531T= (n.*2531T=) c.2634T= (p.His878=) c.*1117T= (n.*1117T=) c.*2641T= (n.*2641T=) c.2391T= (p.His797=) c.408T= (p.His136=) c.467T= c.1599T= (p.His533=) c.2727T= (p.His909=) c.2907T= (p.His969=) c.2574T= (p.His858=) | |
7 | g.117603693_117603697del | CA2580617448 | CFTR | c.2819_2823del (p.Thr940AsnfsTer?) c.*2533_*2537del (n.*2533_*2537del) c.2636_2640del (p.Thr879AsnfsTer?) c.*1119_*1123del (n.*1119_*1123del) c.*2643_*2647del (n.*2643_*2647del) c.2393_2397del (p.Thr798AsnfsTer?) c.410_414del (p.Thr137AsnfsTer?) c.469_473del c.1601_1605del (p.Thr534AsnfsTer?) c.2729_2733del (p.Thr910AsnfsTer?) c.2909_2913del (p.Thr970AsnfsTer?) c.2576_2580del (p.Thr859AsnfsTer?) | ClinVar |
7 | g.117603692_117603705del | CA2697557581 | CFTR | c.2818_2831del (p.Thr940ValfsTer30) c.*2532_*2545del (n.*2532_*2545del) c.2635_2648del (p.Thr879ValfsTer30) c.*1118_*1131del (n.*1118_*1131del) c.*2642_*2655del (n.*2642_*2655del) c.2392_2405del (p.Thr798ValfsTer30) c.409_422del (p.Thr137ValfsTer30) c.468_481del c.1600_1613del (p.Thr534ValfsTer30) c.2728_2741del (p.Thr910ValfsTer30) c.2908_2921del (p.Thr970ValfsTer30) c.2575_2588del (p.Thr859ValfsTer30) | ClinVar |
7 | g.117603692A>C | CA368987028 | CFTR | c.2818A>C (p.Thr940Pro) c.*2532A>C (n.*2532A>C) c.2635A>C (p.Thr879Pro) c.*1118A>C (n.*1118A>C) c.*2642A>C (n.*2642A>C) c.2392A>C (p.Thr798Pro) c.409A>C (p.Thr137Pro) c.468A>C c.1600A>C (p.Thr534Pro) c.2728A>C (p.Thr910Pro) c.2908A>C (p.Thr970Pro) c.2575A>C (p.Thr859Pro) | |
7 | g.117603692A>G | CA368987030 | CFTR | c.2818A>G (p.Thr940Ala) c.*2532A>G (n.*2532A>G) c.2635A>G (p.Thr879Ala) c.*1118A>G (n.*1118A>G) c.*2642A>G (n.*2642A>G) c.2392A>G (p.Thr798Ala) c.409A>G (p.Thr137Ala) c.468A>G c.1600A>G (p.Thr534Ala) c.2728A>G (p.Thr910Ala) c.2908A>G (p.Thr970Ala) c.2575A>G (p.Thr859Ala) | gnomAD v4 |
7 | g.117603692A>T | CA368987034 | CFTR | c.2818A>T (p.Thr940Ser) c.*2532A>T (n.*2532A>T) c.2635A>T (p.Thr879Ser) c.*1118A>T (n.*1118A>T) c.*2642A>T (n.*2642A>T) c.2392A>T (p.Thr798Ser) c.409A>T (p.Thr137Ser) c.468A>T c.1600A>T (p.Thr534Ser) c.2728A>T (p.Thr910Ser) c.2908A>T (p.Thr970Ser) c.2575A>T (p.Thr859Ser) | |
7 | g.117603692dup | CA2580614240 | CFTR | c.2818dup (p.Thr940AsnfsTer?) c.*2532dup (n.*2532dup) c.2635dup (p.Thr879AsnfsTer?) c.*1118dup (n.*1118dup) c.*2642dup (n.*2642dup) c.2392dup (p.Thr798AsnfsTer?) c.409dup (p.Thr137AsnfsTer?) c.468dup c.1600dup (p.Thr534AsnfsTer?) c.2728dup (p.Thr910AsnfsTer?) c.2908dup (p.Thr970AsnfsTer?) c.2575dup (p.Thr859AsnfsTer?) | ClinVar |
7 | g.117603692_117603693del | CA2837240847 | CFTR | c.2818_2819del (p.Thr940SerfsTer?) c.*2532_*2533del (n.*2532_*2533del) c.2635_2636del (p.Thr879SerfsTer?) c.*1118_*1119del (n.*1118_*1119del) c.*2642_*2643del (n.*2642_*2643del) c.2392_2393del (p.Thr798SerfsTer?) c.409_410del (p.Thr137SerfsTer?) c.468_469del c.1600_1601del (p.Thr534SerfsTer?) c.2728_2729del (p.Thr910SerfsTer?) c.2908_2909del (p.Thr970SerfsTer?) c.2575_2576del (p.Thr859SerfsTer?) | |
7 | g.117603693C>A | CA368987037 | CFTR | c.2819C>A (p.Thr940Asn) c.*2533C>A (n.*2533C>A) c.2636C>A (p.Thr879Asn) c.*1119C>A (n.*1119C>A) c.*2643C>A (n.*2643C>A) c.2393C>A (p.Thr798Asn) c.410C>A (p.Thr137Asn) c.469C>A c.1601C>A (p.Thr534Asn) c.2729C>A (p.Thr910Asn) c.2909C>A (p.Thr970Asn) c.2576C>A (p.Thr859Asn) | |
7 | g.117603693C= | CA1737375205 | CFTR | c.2819C= (p.Thr940=) c.*2533C= (n.*2533C=) c.2636C= (p.Thr879=) c.*1119C= (n.*1119C=) c.*2643C= (n.*2643C=) c.2393C= (p.Thr798=) c.410C= (p.Thr137=) c.469C= c.1601C= (p.Thr534=) c.2729C= (p.Thr910=) c.2909C= (p.Thr970=) c.2576C= (p.Thr859=) | |
7 | g.117603693C>G | CA368987041 | CFTR | c.2819C>G (p.Thr940Ser) c.*2533C>G (n.*2533C>G) c.2636C>G (p.Thr879Ser) c.*1119C>G (n.*1119C>G) c.*2643C>G (n.*2643C>G) c.2393C>G (p.Thr798Ser) c.410C>G (p.Thr137Ser) c.469C>G c.1601C>G (p.Thr534Ser) c.2729C>G (p.Thr910Ser) c.2909C>G (p.Thr970Ser) c.2576C>G (p.Thr859Ser) | |
7 | g.117603693C>T | CA4451294 | CFTR | c.2819C>T (p.Thr940Ile) c.*2533C>T (n.*2533C>T) c.2636C>T (p.Thr879Ile) c.*1119C>T (n.*1119C>T) c.*2643C>T (n.*2643C>T) c.2393C>T (p.Thr798Ile) c.410C>T (p.Thr137Ile) c.469C>T c.1601C>T (p.Thr534Ile) c.2729C>T (p.Thr910Ile) c.2909C>T (p.Thr970Ile) c.2576C>T (p.Thr859Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603695_117603696del | CA913111890 | CFTR | c.2821_2822del (p.Leu941AsnfsTer?) c.*2535_*2536del (n.*2535_*2536del) c.2638_2639del (p.Leu880AsnfsTer?) c.*1121_*1122del (n.*1121_*1122del) c.*2645_*2646del (n.*2645_*2646del) c.2395_2396del (p.Leu799AsnfsTer?) c.412_413del (p.Leu138AsnfsTer?) c.471_472del c.1603_1604del (p.Leu535AsnfsTer?) c.2731_2732del (p.Leu911AsnfsTer?) c.2911_2912del (p.Leu971AsnfsTer?) c.2578_2579del (p.Leu860AsnfsTer?) | |
7 | g.117603694T>A | CA457227997 | CFTR | c.2820T>A (p.Thr940=) c.*2534T>A (n.*2534T>A) c.2637T>A (p.Thr879=) c.*1120T>A (n.*1120T>A) c.*2644T>A (n.*2644T>A) c.2394T>A (p.Thr798=) c.411T>A (p.Thr137=) c.470T>A c.1602T>A (p.Thr534=) c.2730T>A (p.Thr910=) c.2910T>A (p.Thr970=) c.2577T>A (p.Thr859=) | |
7 | g.117603694T>C | CA457227998 | CFTR | c.2820T>C (p.Thr940=) c.*2534T>C (n.*2534T>C) c.2637T>C (p.Thr879=) c.*1120T>C (n.*1120T>C) c.*2644T>C (n.*2644T>C) c.2394T>C (p.Thr798=) c.411T>C (p.Thr137=) c.470T>C c.1602T>C (p.Thr534=) c.2730T>C (p.Thr910=) c.2910T>C (p.Thr970=) c.2577T>C (p.Thr859=) | ClinVar dbSNP |
7 | g.117603694T>G | CA221016 | CFTR | c.2820T>G (p.Thr940=) c.*2534T>G (n.*2534T>G) c.2637T>G (p.Thr879=) c.*1120T>G (n.*1120T>G) c.*2644T>G (n.*2644T>G) c.2394T>G (p.Thr798=) c.411T>G (p.Thr137=) c.470T>G c.1602T>G (p.Thr534=) c.2730T>G (p.Thr910=) c.2910T>G (p.Thr970=) c.2577T>G (p.Thr859=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603694T= | CA1737375216 | CFTR | c.2820T= (p.Thr940=) c.*2534T= (n.*2534T=) c.2637T= (p.Thr879=) c.*1120T= (n.*1120T=) c.*2644T= (n.*2644T=) c.2394T= (p.Thr798=) c.411T= (p.Thr137=) c.470T= c.1602T= (p.Thr534=) c.2730T= (p.Thr910=) c.2910T= (p.Thr970=) c.2577T= (p.Thr859=) | |
7 | g.117603695C>A | CA368987049 | CFTR | c.2821C>A (p.Leu941Ile) c.*2535C>A (n.*2535C>A) c.2638C>A (p.Leu880Ile) c.*1121C>A (n.*1121C>A) c.*2645C>A (n.*2645C>A) c.2395C>A (p.Leu799Ile) c.412C>A (p.Leu138Ile) c.471C>A c.1603C>A (p.Leu535Ile) c.2731C>A (p.Leu911Ile) c.2911C>A (p.Leu971Ile) c.2578C>A (p.Leu860Ile) | |
7 | g.117603695C>G | CA368987052 | CFTR | c.2821C>G (p.Leu941Val) c.*2535C>G (n.*2535C>G) c.2638C>G (p.Leu880Val) c.*1121C>G (n.*1121C>G) c.*2645C>G (n.*2645C>G) c.2395C>G (p.Leu799Val) c.412C>G (p.Leu138Val) c.471C>G c.1603C>G (p.Leu535Val) c.2731C>G (p.Leu911Val) c.2911C>G (p.Leu971Val) c.2578C>G (p.Leu860Val) | gnomAD v4 |
7 | g.117603695C>T | CA457227999 | CFTR | c.2821C>T (p.Leu941=) c.*2535C>T (n.*2535C>T) c.2638C>T (p.Leu880=) c.*1121C>T (n.*1121C>T) c.*2645C>T (n.*2645C>T) c.2395C>T (p.Leu799=) c.412C>T (p.Leu138=) c.471C>T c.1603C>T (p.Leu535=) c.2731C>T (p.Leu911=) c.2911C>T (p.Leu971=) c.2578C>T (p.Leu860=) | |
7 | g.117603695_117603696delinsCT | CA1737375218 | CFTR | c.2821_2822delinsCT (p.Leu941=) c.*2535_*2536delinsCT (n.*2535_*2536delinsCT) c.2638_2639delinsCT (p.Leu880=) c.*1121_*1122delinsCT (n.*1121_*1122delinsCT) c.*2645_*2646delinsCT (n.*2645_*2646delinsCT) c.2395_2396delinsCT (p.Leu799=) c.412_413delinsCT (p.Leu138=) c.471_472delinsCT c.1603_1604delinsCT (p.Leu535=) c.2731_2732delinsCT (p.Leu911=) c.2911_2912delinsCT (p.Leu971=) c.2578_2579delinsCT (p.Leu860=) | |
7 | g.117603696del | CA4451295 | CFTR | c.2822del (p.Leu941GlnfsTer27) c.*2536del (n.*2536del) c.2639del (p.Leu880GlnfsTer27) c.*1122del (n.*1122del) c.*2646del (n.*2646del) c.2396del (p.Leu799GlnfsTer27) c.413del (p.Leu138GlnfsTer27) c.472del c.1604del (p.Leu535GlnfsTer27) c.2732del (p.Leu911GlnfsTer27) c.2912del (p.Leu971GlnfsTer27) c.2579del (p.Leu860GlnfsTer27) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603696T>A | CA368987061 | CFTR | c.2822T>A (p.Leu941Gln) c.*2536T>A (n.*2536T>A) c.2639T>A (p.Leu880Gln) c.*1122T>A (n.*1122T>A) c.*2646T>A (n.*2646T>A) c.2396T>A (p.Leu799Gln) c.413T>A (p.Leu138Gln) c.472T>A c.1604T>A (p.Leu535Gln) c.2732T>A (p.Leu911Gln) c.2912T>A (p.Leu971Gln) c.2579T>A (p.Leu860Gln) | |
7 | g.117603696T>C | CA368987063 | CFTR | c.2822T>C (p.Leu941Pro) c.*2536T>C (n.*2536T>C) c.2639T>C (p.Leu880Pro) c.*1122T>C (n.*1122T>C) c.*2646T>C (n.*2646T>C) c.2396T>C (p.Leu799Pro) c.413T>C (p.Leu138Pro) c.472T>C c.1604T>C (p.Leu535Pro) c.2732T>C (p.Leu911Pro) c.2912T>C (p.Leu971Pro) c.2579T>C (p.Leu860Pro) | dbSNP |
7 | g.117603696T>G | CA368987058 | CFTR | c.2822T>G (p.Leu941Arg) c.*2536T>G (n.*2536T>G) c.2639T>G (p.Leu880Arg) c.*1122T>G (n.*1122T>G) c.*2646T>G (n.*2646T>G) c.2396T>G (p.Leu799Arg) c.413T>G (p.Leu138Arg) c.472T>G c.1604T>G (p.Leu535Arg) c.2732T>G (p.Leu911Arg) c.2912T>G (p.Leu971Arg) c.2579T>G (p.Leu860Arg) | |
7 | g.117603696T= | CA1737375226 | CFTR | c.2822T= (p.Leu941=) c.*2536T= (n.*2536T=) c.2639T= (p.Leu880=) c.*1122T= (n.*1122T=) c.*2646T= (n.*2646T=) c.2396T= (p.Leu799=) c.413T= (p.Leu138=) c.472T= c.1604T= (p.Leu535=) c.2732T= (p.Leu911=) c.2912T= (p.Leu971=) c.2579T= (p.Leu860=) | |
7 | g.117603697A>C | CA457228002 | CFTR | c.2823A>C (p.Leu941=) c.*2537A>C (n.*2537A>C) c.2640A>C (p.Leu880=) c.*1123A>C (n.*1123A>C) c.*2647A>C (n.*2647A>C) c.2397A>C (p.Leu799=) c.414A>C (p.Leu138=) c.473A>C c.1605A>C (p.Leu535=) c.2733A>C (p.Leu911=) c.2913A>C (p.Leu971=) c.2580A>C (p.Leu860=) | |
7 | g.117603697A>G | CA457228000 | CFTR | c.2823A>G (p.Leu941=) c.*2537A>G (n.*2537A>G) c.2640A>G (p.Leu880=) c.*1123A>G (n.*1123A>G) c.*2647A>G (n.*2647A>G) c.2397A>G (p.Leu799=) c.414A>G (p.Leu138=) c.473A>G c.1605A>G (p.Leu535=) c.2733A>G (p.Leu911=) c.2913A>G (p.Leu971=) c.2580A>G (p.Leu860=) | |
7 | g.117603697A>T | CA457228001 | CFTR | c.2823A>T (p.Leu941=) c.*2537A>T (n.*2537A>T) c.2640A>T (p.Leu880=) c.*1123A>T (n.*1123A>T) c.*2647A>T (n.*2647A>T) c.2397A>T (p.Leu799=) c.414A>T (p.Leu138=) c.473A>T c.1605A>T (p.Leu535=) c.2733A>T (p.Leu911=) c.2913A>T (p.Leu971=) c.2580A>T (p.Leu860=) | |
7 | g.117603698del | CA2580076358 | CFTR | c.2824del (p.Ile942SerfsTer26) c.*2538del (n.*2538del) c.2641del (p.Ile881SerfsTer26) c.*1124del (n.*1124del) c.*2648del (n.*2648del) c.2398del (p.Ile800SerfsTer26) c.415del (p.Ile139SerfsTer26) c.474del c.1606del (p.Ile536SerfsTer26) c.2734del (p.Ile912SerfsTer26) c.2914del (p.Ile972SerfsTer26) c.2581del (p.Ile861SerfsTer26) | ClinVar |
7 | g.117603698A= | CA1737375231 | CFTR | c.2824A= (p.Ile942=) c.*2538A= (n.*2538A=) c.2641A= (p.Ile881=) c.*1124A= (n.*1124A=) c.*2648A= (n.*2648A=) c.2398A= (p.Ile800=) c.415A= (p.Ile139=) c.474A= c.1606A= (p.Ile536=) c.2734A= (p.Ile912=) c.2914A= (p.Ile972=) c.2581A= (p.Ile861=) | |
7 | g.117603698A>C | CA368987066 | CFTR | c.2824A>C (p.Ile942Leu) c.*2538A>C (n.*2538A>C) c.2641A>C (p.Ile881Leu) c.*1124A>C (n.*1124A>C) c.*2648A>C (n.*2648A>C) c.2398A>C (p.Ile800Leu) c.415A>C (p.Ile139Leu) c.474A>C c.1606A>C (p.Ile536Leu) c.2734A>C (p.Ile912Leu) c.2914A>C (p.Ile972Leu) c.2581A>C (p.Ile861Leu) | |
7 | g.117603698A>G | CA368987068 | CFTR | c.2824A>G (p.Ile942Val) c.*2538A>G (n.*2538A>G) c.2641A>G (p.Ile881Val) c.*1124A>G (n.*1124A>G) c.*2648A>G (n.*2648A>G) c.2398A>G (p.Ile800Val) c.415A>G (p.Ile139Val) c.474A>G c.1606A>G (p.Ile536Val) c.2734A>G (p.Ile912Val) c.2914A>G (p.Ile972Val) c.2581A>G (p.Ile861Val) | dbSNP |
7 | g.117603698A>T | CA368987071 | CFTR | c.2824A>T (p.Ile942Phe) c.*2538A>T (n.*2538A>T) c.2641A>T (p.Ile881Phe) c.*1124A>T (n.*1124A>T) c.*2648A>T (n.*2648A>T) c.2398A>T (p.Ile800Phe) c.415A>T (p.Ile139Phe) c.474A>T c.1606A>T (p.Ile536Phe) c.2734A>T (p.Ile912Phe) c.2914A>T (p.Ile972Phe) c.2581A>T (p.Ile861Phe) | |
7 | g.117603698_117603699delinsAT | CA1737375230 | CFTR | c.2824_2825delinsAT (p.Ile942=) c.*2538_*2539delinsAT (n.*2538_*2539delinsAT) c.2641_2642delinsAT (p.Ile881=) c.*1124_*1125delinsAT (n.*1124_*1125delinsAT) c.*2648_*2649delinsAT (n.*2648_*2649delinsAT) c.2398_2399delinsAT (p.Ile800=) c.415_416delinsAT (p.Ile139=) c.474_475delinsAT c.1606_1607delinsAT (p.Ile536=) c.2734_2735delinsAT (p.Ile912=) c.2914_2915delinsAT (p.Ile972=) c.2581_2582delinsAT (p.Ile861=) | |
7 | g.117603699del | CA326937 | CFTR | c.2825del (p.Ile942ThrfsTer26) c.*2539del (n.*2539del) c.2642del (p.Ile881ThrfsTer26) c.*1125del (n.*1125del) c.*2649del (n.*2649del) c.2399del (p.Ile800ThrfsTer26) c.416del (p.Ile139ThrfsTer26) c.475del c.1607del (p.Ile536ThrfsTer26) c.2735del (p.Ile912ThrfsTer26) c.2915del (p.Ile972ThrfsTer26) c.2582del (p.Ile861ThrfsTer26) | ClinVar dbSNP |
7 | g.117603699T>A | CA368987077 | CFTR | c.2825T>A (p.Ile942Asn) c.*2539T>A (n.*2539T>A) c.2642T>A (p.Ile881Asn) c.*1125T>A (n.*1125T>A) c.*2649T>A (n.*2649T>A) c.2399T>A (p.Ile800Asn) c.416T>A (p.Ile139Asn) c.475T>A c.1607T>A (p.Ile536Asn) c.2735T>A (p.Ile912Asn) c.2915T>A (p.Ile972Asn) c.2582T>A (p.Ile861Asn) | |
7 | g.117603699T>C | CA368987079 | CFTR | c.2825T>C (p.Ile942Thr) c.*2539T>C (n.*2539T>C) c.2642T>C (p.Ile881Thr) c.*1125T>C (n.*1125T>C) c.*2649T>C (n.*2649T>C) c.2399T>C (p.Ile800Thr) c.416T>C (p.Ile139Thr) c.475T>C c.1607T>C (p.Ile536Thr) c.2735T>C (p.Ile912Thr) c.2915T>C (p.Ile972Thr) c.2582T>C (p.Ile861Thr) | |
7 | g.117603699T>G | CA368987083 | CFTR | c.2825T>G (p.Ile942Ser) c.*2539T>G (n.*2539T>G) c.2642T>G (p.Ile881Ser) c.*1125T>G (n.*1125T>G) c.*2649T>G (n.*2649T>G) c.2399T>G (p.Ile800Ser) c.416T>G (p.Ile139Ser) c.475T>G c.1607T>G (p.Ile536Ser) c.2735T>G (p.Ile912Ser) c.2915T>G (p.Ile972Ser) c.2582T>G (p.Ile861Ser) | |
7 | g.117603700C>A | CA457228003 | CFTR | c.2826C>A (p.Ile942=) c.*2540C>A (n.*2540C>A) c.2643C>A (p.Ile881=) c.*1126C>A (n.*1126C>A) c.*2650C>A (n.*2650C>A) c.2400C>A (p.Ile800=) c.417C>A (p.Ile139=) c.476C>A c.1608C>A (p.Ile536=) c.2736C>A (p.Ile912=) c.2916C>A (p.Ile972=) c.2583C>A (p.Ile861=) | |
7 | g.117603700C= | CA1737375238 | CFTR | c.2826C= (p.Ile942=) c.*2540C= (n.*2540C=) c.2643C= (p.Ile881=) c.*1126C= (n.*1126C=) c.*2650C= (n.*2650C=) c.2400C= (p.Ile800=) c.417C= (p.Ile139=) c.476C= c.1608C= (p.Ile536=) c.2736C= (p.Ile912=) c.2916C= (p.Ile972=) c.2583C= (p.Ile861=) | |
7 | g.117603700C>G | CA368987088 | CFTR | c.2826C>G (p.Ile942Met) c.*2540C>G (n.*2540C>G) c.2643C>G (p.Ile881Met) c.*1126C>G (n.*1126C>G) c.*2650C>G (n.*2650C>G) c.2400C>G (p.Ile800Met) c.417C>G (p.Ile139Met) c.476C>G c.1608C>G (p.Ile536Met) c.2736C>G (p.Ile912Met) c.2916C>G (p.Ile972Met) c.2583C>G (p.Ile861Met) | |
7 | g.117603700C>T | CA457228004 | CFTR | c.2826C>T (p.Ile942=) c.*2540C>T (n.*2540C>T) c.2643C>T (p.Ile881=) c.*1126C>T (n.*1126C>T) c.*2650C>T (n.*2650C>T) c.2400C>T (p.Ile800=) c.417C>T (p.Ile139=) c.476C>T c.1608C>T (p.Ile536=) c.2736C>T (p.Ile912=) c.2916C>T (p.Ile972=) c.2583C>T (p.Ile861=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603701A>C | CA368987091 | CFTR | c.2827A>C (p.Thr943Pro) c.*2541A>C (n.*2541A>C) c.2644A>C (p.Thr882Pro) c.*1127A>C (n.*1127A>C) c.*2651A>C (n.*2651A>C) c.2401A>C (p.Thr801Pro) c.418A>C (p.Thr140Pro) c.477A>C c.1609A>C (p.Thr537Pro) c.2737A>C (p.Thr913Pro) c.2917A>C (p.Thr973Pro) c.2584A>C (p.Thr862Pro) | |
7 | g.117603701A>G | CA368987094 | CFTR | c.2827A>G (p.Thr943Ala) c.*2541A>G (n.*2541A>G) c.2644A>G (p.Thr882Ala) c.*1127A>G (n.*1127A>G) c.*2651A>G (n.*2651A>G) c.2401A>G (p.Thr801Ala) c.418A>G (p.Thr140Ala) c.477A>G c.1609A>G (p.Thr537Ala) c.2737A>G (p.Thr913Ala) c.2917A>G (p.Thr973Ala) c.2584A>G (p.Thr862Ala) | gnomAD v4 |
7 | g.117603701A>T | CA368987095 | CFTR | c.2827A>T (p.Thr943Ser) c.*2541A>T (n.*2541A>T) c.2644A>T (p.Thr882Ser) c.*1127A>T (n.*1127A>T) c.*2651A>T (n.*2651A>T) c.2401A>T (p.Thr801Ser) c.418A>T (p.Thr140Ser) c.477A>T c.1609A>T (p.Thr537Ser) c.2737A>T (p.Thr913Ser) c.2917A>T (p.Thr973Ser) c.2584A>T (p.Thr862Ser) | |
7 | g.117603702del | CA2695199622 | CFTR | c.2828del (p.Thr943LysfsTer25) c.*2542del (n.*2542del) c.2645del (p.Thr882LysfsTer25) c.*1128del (n.*1128del) c.*2652del (n.*2652del) c.2402del (p.Thr801LysfsTer25) c.419del (p.Thr140LysfsTer25) c.478del c.1610del (p.Thr537LysfsTer25) c.2738del (p.Thr913LysfsTer25) c.2918del (p.Thr973LysfsTer25) c.2585del (p.Thr862LysfsTer25) | ClinVar |
7 | g.117603702C>A | CA368987100 | CFTR | c.2828C>A (p.Thr943Lys) c.*2542C>A (n.*2542C>A) c.2645C>A (p.Thr882Lys) c.*1128C>A (n.*1128C>A) c.*2652C>A (n.*2652C>A) c.2402C>A (p.Thr801Lys) c.419C>A (p.Thr140Lys) c.478C>A c.1610C>A (p.Thr537Lys) c.2738C>A (p.Thr913Lys) c.2918C>A (p.Thr973Lys) c.2585C>A (p.Thr862Lys) | |
7 | g.117603702C>G | CA368987103 | CFTR | c.2828C>G (p.Thr943Arg) c.*2542C>G (n.*2542C>G) c.2645C>G (p.Thr882Arg) c.*1128C>G (n.*1128C>G) c.*2652C>G (n.*2652C>G) c.2402C>G (p.Thr801Arg) c.419C>G (p.Thr140Arg) c.478C>G c.1610C>G (p.Thr537Arg) c.2738C>G (p.Thr913Arg) c.2918C>G (p.Thr973Arg) c.2585C>G (p.Thr862Arg) | |
7 | g.117603702C>T | CA368987099 | CFTR | c.2828C>T (p.Thr943Ile) c.*2542C>T (n.*2542C>T) c.2645C>T (p.Thr882Ile) c.*1128C>T (n.*1128C>T) c.*2652C>T (n.*2652C>T) c.2402C>T (p.Thr801Ile) c.419C>T (p.Thr140Ile) c.478C>T c.1610C>T (p.Thr537Ile) c.2738C>T (p.Thr913Ile) c.2918C>T (p.Thr973Ile) c.2585C>T (p.Thr862Ile) | |
7 | g.117603703A>C | CA457228005 | CFTR | c.2829A>C (p.Thr943=) c.*2543A>C (n.*2543A>C) c.2646A>C (p.Thr882=) c.*1129A>C (n.*1129A>C) c.*2653A>C (n.*2653A>C) c.2403A>C (p.Thr801=) c.420A>C (p.Thr140=) c.479A>C c.1611A>C (p.Thr537=) c.2739A>C (p.Thr913=) c.2919A>C (p.Thr973=) c.2586A>C (p.Thr862=) | |
7 | g.117603703A>G | CA457228006 | CFTR | c.2829A>G (p.Thr943=) c.*2543A>G (n.*2543A>G) c.2646A>G (p.Thr882=) c.*1129A>G (n.*1129A>G) c.*2653A>G (n.*2653A>G) c.2403A>G (p.Thr801=) c.420A>G (p.Thr140=) c.479A>G c.1611A>G (p.Thr537=) c.2739A>G (p.Thr913=) c.2919A>G (p.Thr973=) c.2586A>G (p.Thr862=) | |
7 | g.117603703A>T | CA457228007 | CFTR | c.2829A>T (p.Thr943=) c.*2543A>T (n.*2543A>T) c.2646A>T (p.Thr882=) c.*1129A>T (n.*1129A>T) c.*2653A>T (n.*2653A>T) c.2403A>T (p.Thr801=) c.420A>T (p.Thr140=) c.479A>T c.1611A>T (p.Thr537=) c.2739A>T (p.Thr913=) c.2919A>T (p.Thr973=) c.2586A>T (p.Thr862=) | |
7 | g.117603704G>A | CA368987108 | CFTR | c.2830G>A (p.Val944Met) c.*2544G>A (n.*2544G>A) c.2647G>A (p.Val883Met) c.*1130G>A (n.*1130G>A) c.*2654G>A (n.*2654G>A) c.2404G>A (p.Val802Met) c.421G>A (p.Val141Met) c.480G>A c.1612G>A (p.Val538Met) c.2740G>A (p.Val914Met) c.2920G>A (p.Val974Met) c.2587G>A (p.Val863Met) | |
7 | g.117603704G>C | CA368987109 | CFTR | c.2830G>C (p.Val944Leu) c.*2544G>C (n.*2544G>C) c.2647G>C (p.Val883Leu) c.*1130G>C (n.*1130G>C) c.*2654G>C (n.*2654G>C) c.2404G>C (p.Val802Leu) c.421G>C (p.Val141Leu) c.480G>C c.1612G>C (p.Val538Leu) c.2740G>C (p.Val914Leu) c.2920G>C (p.Val974Leu) c.2587G>C (p.Val863Leu) | ClinVar |
7 | g.117603704G>T | CA368987114 | CFTR | c.2830G>T (p.Val944Leu) c.*2544G>T (n.*2544G>T) c.2647G>T (p.Val883Leu) c.*1130G>T (n.*1130G>T) c.*2654G>T (n.*2654G>T) c.2404G>T (p.Val802Leu) c.421G>T (p.Val141Leu) c.480G>T c.1612G>T (p.Val538Leu) c.2740G>T (p.Val914Leu) c.2920G>T (p.Val974Leu) c.2587G>T (p.Val863Leu) | |
7 | g.117603705T>A | CA368987119 | CFTR | c.2831T>A (p.Val944Glu) c.*2545T>A (n.*2545T>A) c.2648T>A (p.Val883Glu) c.*1131T>A (n.*1131T>A) c.*2655T>A (n.*2655T>A) c.2405T>A (p.Val802Glu) c.422T>A (p.Val141Glu) c.481T>A c.1613T>A (p.Val538Glu) c.2741T>A (p.Val914Glu) c.2921T>A (p.Val974Glu) c.2588T>A (p.Val863Glu) | |
7 | g.117603705T>C | CA164960286 | CFTR | c.2831T>C (p.Val944Ala) c.*2545T>C (n.*2545T>C) c.2648T>C (p.Val883Ala) c.*1131T>C (n.*1131T>C) c.*2655T>C (n.*2655T>C) c.2405T>C (p.Val802Ala) c.422T>C (p.Val141Ala) c.481T>C c.1613T>C (p.Val538Ala) c.2741T>C (p.Val914Ala) c.2921T>C (p.Val974Ala) c.2588T>C (p.Val863Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603705T>G | CA368987124 | CFTR | c.2831T>G (p.Val944Gly) c.*2545T>G (n.*2545T>G) c.2648T>G (p.Val883Gly) c.*1131T>G (n.*1131T>G) c.*2655T>G (n.*2655T>G) c.2405T>G (p.Val802Gly) c.422T>G (p.Val141Gly) c.481T>G c.1613T>G (p.Val538Gly) c.2741T>G (p.Val914Gly) c.2921T>G (p.Val974Gly) c.2588T>G (p.Val863Gly) | dbSNP |
7 | g.117603705T= | CA1737375248 | CFTR | c.2831T= (p.Val944=) c.*2545T= (n.*2545T=) c.2648T= (p.Val883=) c.*1131T= (n.*1131T=) c.*2655T= (n.*2655T=) c.2405T= (p.Val802=) c.422T= (p.Val141=) c.481T= c.1613T= (p.Val538=) c.2741T= (p.Val914=) c.2921T= (p.Val974=) c.2588T= (p.Val863=) | |
7 | g.117603706G>A | CA260227 | CFTR | c.2832G>A (p.Val944=) c.*2546G>A (n.*2546G>A) c.2649G>A (p.Val883=) c.*1132G>A (n.*1132G>A) c.*2656G>A (n.*2656G>A) c.2406G>A (p.Val802=) c.423G>A (p.Val141=) c.482G>A c.1614G>A (p.Val538=) c.2742G>A (p.Val914=) c.2922G>A (p.Val974=) c.2589G>A (p.Val863=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603706G>C | CA457228008 | CFTR | c.2832G>C (p.Val944=) c.*2546G>C (n.*2546G>C) c.2649G>C (p.Val883=) c.*1132G>C (n.*1132G>C) c.*2656G>C (n.*2656G>C) c.2406G>C (p.Val802=) c.423G>C (p.Val141=) c.482G>C c.1614G>C (p.Val538=) c.2742G>C (p.Val914=) c.2922G>C (p.Val974=) c.2589G>C (p.Val863=) | |
7 | g.117603706G= | CA1737375268 | CFTR | c.2832G= (p.Val944=) c.*2546G= (n.*2546G=) c.2649G= (p.Val883=) c.*1132G= (n.*1132G=) c.*2656G= (n.*2656G=) c.2406G= (p.Val802=) c.423G= (p.Val141=) c.482G= c.1614G= (p.Val538=) c.2742G= (p.Val914=) c.2922G= (p.Val974=) c.2589G= (p.Val863=) | |
7 | g.117603706G>T | CA4451296 | CFTR | c.2832G>T (p.Val944=) c.*2546G>T (n.*2546G>T) c.2649G>T (p.Val883=) c.*1132G>T (n.*1132G>T) c.*2656G>T (n.*2656G>T) c.2406G>T (p.Val802=) c.423G>T (p.Val141=) c.482G>T c.1614G>T (p.Val538=) c.2742G>T (p.Val914=) c.2922G>T (p.Val974=) c.2589G>T (p.Val863=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603707T>A | CA368987133 | CFTR | c.2833T>A (p.Ser945Thr) c.*2547T>A (n.*2547T>A) c.2650T>A (p.Ser884Thr) c.*1133T>A (n.*1133T>A) c.*2657T>A (n.*2657T>A) c.2407T>A (p.Ser803Thr) c.424T>A (p.Ser142Thr) c.483T>A c.1615T>A (p.Ser539Thr) c.2743T>A (p.Ser915Thr) c.2923T>A (p.Ser975Thr) c.2590T>A (p.Ser864Thr) | |
7 | g.117603707T>C | CA368987138 | CFTR | c.2833T>C (p.Ser945Pro) c.*2547T>C (n.*2547T>C) c.2650T>C (p.Ser884Pro) c.*1133T>C (n.*1133T>C) c.*2657T>C (n.*2657T>C) c.2407T>C (p.Ser803Pro) c.424T>C (p.Ser142Pro) c.483T>C c.1615T>C (p.Ser539Pro) c.2743T>C (p.Ser915Pro) c.2923T>C (p.Ser975Pro) c.2590T>C (p.Ser864Pro) | |
7 | g.117603707T>G | CA368987141 | CFTR | c.2833T>G (p.Ser945Ala) c.*2547T>G (n.*2547T>G) c.2650T>G (p.Ser884Ala) c.*1133T>G (n.*1133T>G) c.*2657T>G (n.*2657T>G) c.2407T>G (p.Ser803Ala) c.424T>G (p.Ser142Ala) c.483T>G c.1615T>G (p.Ser539Ala) c.2743T>G (p.Ser915Ala) c.2923T>G (p.Ser975Ala) c.2590T>G (p.Ser864Ala) | |
7 | g.117603708C>A | CA368987143 | CFTR | c.2834C>A (p.Ser945Ter) c.*2548C>A (n.*2548C>A) c.2651C>A (p.Ser884Ter) c.*1134C>A (n.*1134C>A) c.*2658C>A (n.*2658C>A) c.2408C>A (p.Ser803Ter) c.425C>A (p.Ser142Ter) c.484C>A c.1616C>A (p.Ser539Ter) c.2744C>A (p.Ser915Ter) c.2924C>A (p.Ser975Ter) c.2591C>A (p.Ser864Ter) | gnomAD v4 |
7 | g.117603708C= | CA1737375279 | CFTR | c.2834C= (p.Ser945=) c.*2548C= (n.*2548C=) c.2651C= (p.Ser884=) c.*1134C= (n.*1134C=) c.*2658C= (n.*2658C=) c.2408C= (p.Ser803=) c.425C= (p.Ser142=) c.484C= c.1616C= (p.Ser539=) c.2744C= (p.Ser915=) c.2924C= (p.Ser975=) c.2591C= (p.Ser864=) | |
7 | g.117603708C>G | CA368987148 | CFTR | c.2834C>G (p.Ser945Trp) c.*2548C>G (n.*2548C>G) c.2651C>G (p.Ser884Trp) c.*1134C>G (n.*1134C>G) c.*2658C>G (n.*2658C>G) c.2408C>G (p.Ser803Trp) c.425C>G (p.Ser142Trp) c.484C>G c.1616C>G (p.Ser539Trp) c.2744C>G (p.Ser915Trp) c.2924C>G (p.Ser975Trp) c.2591C>G (p.Ser864Trp) | |
7 | g.117603708C>T | CA345314 | CFTR | c.2834C>T (p.Ser945Leu) c.*2548C>T (n.*2548C>T) c.2651C>T (p.Ser884Leu) c.*1134C>T (n.*1134C>T) c.*2658C>T (n.*2658C>T) c.2408C>T (p.Ser803Leu) c.425C>T (p.Ser142Leu) c.484C>T c.1616C>T (p.Ser539Leu) c.2744C>T (p.Ser915Leu) c.2924C>T (p.Ser975Leu) c.2591C>T (p.Ser864Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603709del | CA2684587831 | CFTR | c.2835del (p.Ile947PhefsTer21) c.*2549del (n.*2549del) c.2652del (p.Ile886PhefsTer21) c.*1135del (n.*1135del) c.*2659del (n.*2659del) c.2409del (p.Ile805PhefsTer21) c.426del (p.Ile144PhefsTer21) c.485del c.1617del (p.Ile541PhefsTer21) c.2745del (p.Ile917PhefsTer21) c.2925del (p.Ile977PhefsTer21) c.2592del (p.Ile866PhefsTer21) | gnomAD v4 |
7 | g.117603709G>A | CA260229 | CFTR | c.2835G>A (p.Ser945=) c.*2549G>A (n.*2549G>A) c.2652G>A (p.Ser884=) c.*1135G>A (n.*1135G>A) c.*2659G>A (n.*2659G>A) c.2409G>A (p.Ser803=) c.426G>A (p.Ser142=) c.485G>A c.1617G>A (p.Ser539=) c.2745G>A (p.Ser915=) c.2925G>A (p.Ser975=) c.2592G>A (p.Ser864=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117603709G>C | CA457228010 | CFTR | c.2835G>C (p.Ser945=) c.*2549G>C (n.*2549G>C) c.2652G>C (p.Ser884=) c.*1135G>C (n.*1135G>C) c.*2659G>C (n.*2659G>C) c.2409G>C (p.Ser803=) c.426G>C (p.Ser142=) c.485G>C c.1617G>C (p.Ser539=) c.2745G>C (p.Ser915=) c.2925G>C (p.Ser975=) c.2592G>C (p.Ser864=) | |
7 | g.117603709G= | CA1737375294 | CFTR | c.2835G= (p.Ser945=) c.*2549G= (n.*2549G=) c.2652G= (p.Ser884=) c.*1135G= (n.*1135G=) c.*2659G= (n.*2659G=) c.2409G= (p.Ser803=) c.426G= (p.Ser142=) c.485G= c.1617G= (p.Ser539=) c.2745G= (p.Ser915=) c.2925G= (p.Ser975=) c.2592G= (p.Ser864=) | |
7 | g.117603709G>T | CA457228009 | CFTR | c.2835G>T (p.Ser945=) c.*2549G>T (n.*2549G>T) c.2652G>T (p.Ser884=) c.*1135G>T (n.*1135G>T) c.*2659G>T (n.*2659G>T) c.2409G>T (p.Ser803=) c.426G>T (p.Ser142=) c.485G>T c.1617G>T (p.Ser539=) c.2745G>T (p.Ser915=) c.2925G>T (p.Ser975=) c.2592G>T (p.Ser864=) | ClinVar dbSNP |
7 | g.117603710A= | CA1737375297 | CFTR | c.2836A= (p.Lys946=) c.*2550A= (n.*2550A=) c.2653A= (p.Lys885=) c.*1136A= (n.*1136A=) c.*2660A= (n.*2660A=) c.2410A= (p.Lys804=) c.427A= (p.Lys143=) c.486A= c.1618A= (p.Lys540=) c.2746A= (p.Lys916=) c.2926A= (p.Lys976=) c.2593A= (p.Lys865=) | |
7 | g.117603710A>C | CA368987159 | CFTR | c.2836A>C (p.Lys946Gln) c.*2550A>C (n.*2550A>C) c.2653A>C (p.Lys885Gln) c.*1136A>C (n.*1136A>C) c.*2660A>C (n.*2660A>C) c.2410A>C (p.Lys804Gln) c.427A>C (p.Lys143Gln) c.486A>C c.1618A>C (p.Lys540Gln) c.2746A>C (p.Lys916Gln) c.2926A>C (p.Lys976Gln) c.2593A>C (p.Lys865Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603710A>G | CA368987156 | CFTR | c.2836A>G (p.Lys946Glu) c.*2550A>G (n.*2550A>G) c.2653A>G (p.Lys885Glu) c.*1136A>G (n.*1136A>G) c.*2660A>G (n.*2660A>G) c.2410A>G (p.Lys804Glu) c.427A>G (p.Lys143Glu) c.486A>G c.1618A>G (p.Lys540Glu) c.2746A>G (p.Lys916Glu) c.2926A>G (p.Lys976Glu) c.2593A>G (p.Lys865Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603710A>T | CA326938 | CFTR | c.2836A>T (p.Lys946Ter) c.*2550A>T (n.*2550A>T) c.2653A>T (p.Lys885Ter) c.*1136A>T (n.*1136A>T) c.*2660A>T (n.*2660A>T) c.2410A>T (p.Lys804Ter) c.427A>T (p.Lys143Ter) c.486A>T c.1618A>T (p.Lys540Ter) c.2746A>T (p.Lys916Ter) c.2926A>T (p.Lys976Ter) c.2593A>T (p.Lys865Ter) | dbSNP |
7 | g.117603711A= | CA1737375307 | CFTR | c.2837A= (p.Lys946=) c.*2551A= (n.*2551A=) c.2654A= (p.Lys885=) c.*1137A= (n.*1137A=) c.*2661A= (n.*2661A=) c.2411A= (p.Lys804=) c.428A= (p.Lys143=) c.487A= c.1619A= (p.Lys540=) c.2747A= (p.Lys916=) c.2927A= (p.Lys976=) c.2594A= (p.Lys865=) | |
7 | g.117603711A>C | CA368987166 | CFTR | c.2837A>C (p.Lys946Thr) c.*2551A>C (n.*2551A>C) c.2654A>C (p.Lys885Thr) c.*1137A>C (n.*1137A>C) c.*2661A>C (n.*2661A>C) c.2411A>C (p.Lys804Thr) c.428A>C (p.Lys143Thr) c.487A>C c.1619A>C (p.Lys540Thr) c.2747A>C (p.Lys916Thr) c.2927A>C (p.Lys976Thr) c.2594A>C (p.Lys865Thr) | |
7 | g.117603711A>G | CA368987169 | CFTR | c.2837A>G (p.Lys946Arg) c.*2551A>G (n.*2551A>G) c.2654A>G (p.Lys885Arg) c.*1137A>G (n.*1137A>G) c.*2661A>G (n.*2661A>G) c.2411A>G (p.Lys804Arg) c.428A>G (p.Lys143Arg) c.487A>G c.1619A>G (p.Lys540Arg) c.2747A>G (p.Lys916Arg) c.2927A>G (p.Lys976Arg) c.2594A>G (p.Lys865Arg) | |
7 | g.117603711A>T | CA368987171 | CFTR | c.2837A>T (p.Lys946Ile) c.*2551A>T (n.*2551A>T) c.2654A>T (p.Lys885Ile) c.*1137A>T (n.*1137A>T) c.*2661A>T (n.*2661A>T) c.2411A>T (p.Lys804Ile) c.428A>T (p.Lys143Ile) c.487A>T c.1619A>T (p.Lys540Ile) c.2747A>T (p.Lys916Ile) c.2927A>T (p.Lys976Ile) c.2594A>T (p.Lys865Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.117603712A>C | CA368987174 | CFTR | c.2838A>C (p.Lys946Asn) c.*2552A>C (n.*2552A>C) c.2655A>C (p.Lys885Asn) c.*1138A>C (n.*1138A>C) c.*2662A>C (n.*2662A>C) c.2412A>C (p.Lys804Asn) c.429A>C (p.Lys143Asn) c.488A>C c.1620A>C (p.Lys540Asn) c.2748A>C (p.Lys916Asn) c.2928A>C (p.Lys976Asn) c.2595A>C (p.Lys865Asn) | gnomAD v4 COSMIC |
7 | g.117603712A>G | CA457228011 | CFTR | c.2838A>G (p.Lys946=) c.*2552A>G (n.*2552A>G) c.2655A>G (p.Lys885=) c.*1138A>G (n.*1138A>G) c.*2662A>G (n.*2662A>G) c.2412A>G (p.Lys804=) c.429A>G (p.Lys143=) c.488A>G c.1620A>G (p.Lys540=) c.2748A>G (p.Lys916=) c.2928A>G (p.Lys976=) c.2595A>G (p.Lys865=) | ClinVar dbSNP |
7 | g.117603712A>T | CA368987176 | CFTR | c.2838A>T (p.Lys946Asn) c.*2552A>T (n.*2552A>T) c.2655A>T (p.Lys885Asn) c.*1138A>T (n.*1138A>T) c.*2662A>T (n.*2662A>T) c.2412A>T (p.Lys804Asn) c.429A>T (p.Lys143Asn) c.488A>T c.1620A>T (p.Lys540Asn) c.2748A>T (p.Lys916Asn) c.2928A>T (p.Lys976Asn) c.2595A>T (p.Lys865Asn) | |
7 | g.117603713A>C | CA368987179 | CFTR | c.2839A>C (p.Ile947Leu) c.*2553A>C (n.*2553A>C) c.2656A>C (p.Ile886Leu) c.*1139A>C (n.*1139A>C) c.*2663A>C (n.*2663A>C) c.2413A>C (p.Ile805Leu) c.430A>C (p.Ile144Leu) c.489A>C c.1621A>C (p.Ile541Leu) c.2749A>C (p.Ile917Leu) c.2929A>C (p.Ile977Leu) c.2596A>C (p.Ile866Leu) | |
7 | g.117603713A>G | CA368987182 | CFTR | c.2839A>G (p.Ile947Val) c.*2553A>G (n.*2553A>G) c.2656A>G (p.Ile886Val) c.*1139A>G (n.*1139A>G) c.*2663A>G (n.*2663A>G) c.2413A>G (p.Ile805Val) c.430A>G (p.Ile144Val) c.489A>G c.1621A>G (p.Ile541Val) c.2749A>G (p.Ile917Val) c.2929A>G (p.Ile977Val) c.2596A>G (p.Ile866Val) | |
7 | g.117603713A>T | CA368987184 | CFTR | c.2839A>T (p.Ile947Phe) c.*2553A>T (n.*2553A>T) c.2656A>T (p.Ile886Phe) c.*1139A>T (n.*1139A>T) c.*2663A>T (n.*2663A>T) c.2413A>T (p.Ile805Phe) c.430A>T (p.Ile144Phe) c.489A>T c.1621A>T (p.Ile541Phe) c.2749A>T (p.Ile917Phe) c.2929A>T (p.Ile977Phe) c.2596A>T (p.Ile866Phe) | |
7 | g.117603714T>A | CA368987188 | CFTR | c.2840T>A (p.Ile947Asn) c.*2554T>A (n.*2554T>A) c.2657T>A (p.Ile886Asn) c.*1140T>A (n.*1140T>A) c.*2664T>A (n.*2664T>A) c.2414T>A (p.Ile805Asn) c.431T>A (p.Ile144Asn) c.490T>A c.1622T>A (p.Ile541Asn) c.2750T>A (p.Ile917Asn) c.2930T>A (p.Ile977Asn) c.2597T>A (p.Ile866Asn) | |
7 | g.117603714T>C | CA4451297 | CFTR | c.2840T>C (p.Ile947Thr) c.*2554T>C (n.*2554T>C) c.2657T>C (p.Ile886Thr) c.*1140T>C (n.*1140T>C) c.*2664T>C (n.*2664T>C) c.2414T>C (p.Ile805Thr) c.431T>C (p.Ile144Thr) c.490T>C c.1622T>C (p.Ile541Thr) c.2750T>C (p.Ile917Thr) c.2930T>C (p.Ile977Thr) c.2597T>C (p.Ile866Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.117603714T>G | CA368987193 | CFTR | c.2840T>G (p.Ile947Ser) c.*2554T>G (n.*2554T>G) c.2657T>G (p.Ile886Ser) c.*1140T>G (n.*1140T>G) c.*2664T>G (n.*2664T>G) c.2414T>G (p.Ile805Ser) c.431T>G (p.Ile144Ser) c.490T>G c.1622T>G (p.Ile541Ser) c.2750T>G (p.Ile917Ser) c.2930T>G (p.Ile977Ser) c.2597T>G (p.Ile866Ser) | ClinVar COSMIC |
7 | g.117603714T= | CA1737375310 | CFTR | c.2840T= (p.Ile947=) c.*2554T= (n.*2554T=) c.2657T= (p.Ile886=) c.*1140T= (n.*1140T=) c.*2664T= (n.*2664T=) c.2414T= (p.Ile805=) c.431T= (p.Ile144=) c.490T= c.1622T= (p.Ile541=) c.2750T= (p.Ile917=) c.2930T= (p.Ile977=) c.2597T= (p.Ile866=) | |
7 | g.117603715T>A | CA457228013 | CFTR | c.2841T>A (p.Ile947=) c.*2555T>A (n.*2555T>A) c.2658T>A (p.Ile886=) c.*1141T>A (n.*1141T>A) c.*2665T>A (n.*2665T>A) c.2415T>A (p.Ile805=) c.432T>A (p.Ile144=) c.491T>A c.1623T>A (p.Ile541=) c.2751T>A (p.Ile917=) c.2931T>A (p.Ile977=) c.2598T>A (p.Ile866=) | |
7 | g.117603715T>C | CA457228014 | CFTR | c.2841T>C (p.Ile947=) c.*2555T>C (n.*2555T>C) c.2658T>C (p.Ile886=) c.*1141T>C (n.*1141T>C) c.*2665T>C (n.*2665T>C) c.2415T>C (p.Ile805=) c.432T>C (p.Ile144=) c.491T>C c.1623T>C (p.Ile541=) c.2751T>C (p.Ile917=) c.2931T>C (p.Ile977=) c.2598T>C (p.Ile866=) | |
7 | g.117603715T>G | CA368987195 | CFTR | c.2841T>G (p.Ile947Met) c.*2555T>G (n.*2555T>G) c.2658T>G (p.Ile886Met) c.*1141T>G (n.*1141T>G) c.*2665T>G (n.*2665T>G) c.2415T>G (p.Ile805Met) c.432T>G (p.Ile144Met) c.491T>G c.1623T>G (p.Ile541Met) c.2751T>G (p.Ile917Met) c.2931T>G (p.Ile977Met) c.2598T>G (p.Ile866Met) | |
7 | g.117603716T>A | CA368987199 | CFTR | c.2842T>A (p.Leu948Ile) c.*2556T>A (n.*2556T>A) c.2659T>A (p.Leu887Ile) c.*1142T>A (n.*1142T>A) c.*2666T>A (n.*2666T>A) c.2416T>A (p.Leu806Ile) c.433T>A (p.Leu145Ile) c.492T>A c.1624T>A (p.Leu542Ile) c.2752T>A (p.Leu918Ile) c.2932T>A (p.Leu978Ile) c.2599T>A (p.Leu867Ile) | |
7 | g.117603716T>C | CA457228015 | CFTR | c.2842T>C (p.Leu948=) c.*2556T>C (n.*2556T>C) c.2659T>C (p.Leu887=) c.*1142T>C (n.*1142T>C) c.*2666T>C (n.*2666T>C) c.2416T>C (p.Leu806=) c.433T>C (p.Leu145=) c.492T>C c.1624T>C (p.Leu542=) c.2752T>C (p.Leu918=) c.2932T>C (p.Leu978=) c.2599T>C (p.Leu867=) | ClinVar dbSNP |
7 | g.117603716T>G | CA368987203 | CFTR | c.2842T>G (p.Leu948Val) c.*2556T>G (n.*2556T>G) c.2659T>G (p.Leu887Val) c.*1142T>G (n.*1142T>G) c.*2666T>G (n.*2666T>G) c.2416T>G (p.Leu806Val) c.433T>G (p.Leu145Val) c.492T>G c.1624T>G (p.Leu542Val) c.2752T>G (p.Leu918Val) c.2932T>G (p.Leu978Val) c.2599T>G (p.Leu867Val) | gnomAD v4 |
7 | g.117603717T>A | CA368987205 | CFTR | c.2843T>A (p.Leu948Ter) c.*2557T>A (n.*2557T>A) c.2660T>A (p.Leu887Ter) c.*1143T>A (n.*1143T>A) c.*2667T>A (n.*2667T>A) c.2417T>A (p.Leu806Ter) c.434T>A (p.Leu145Ter) c.493T>A c.1625T>A (p.Leu542Ter) c.2753T>A (p.Leu918Ter) c.2933T>A (p.Leu978Ter) c.2600T>A (p.Leu867Ter) | |
7 | g.117603717T>C | CA164960312 | CFTR | c.2843T>C (p.Leu948Ser) c.*2557T>C (n.*2557T>C) c.2660T>C (p.Leu887Ser) c.*1143T>C (n.*1143T>C) c.*2667T>C (n.*2667T>C) c.2417T>C (p.Leu806Ser) c.434T>C (p.Leu145Ser) c.493T>C c.1625T>C (p.Leu542Ser) c.2753T>C (p.Leu918Ser) c.2933T>C (p.Leu978Ser) c.2600T>C (p.Leu867Ser) | ClinVar dbSNP |
7 | g.117603717T>G | CA368987209 | CFTR | c.2843T>G (p.Leu948Ter) c.*2557T>G (n.*2557T>G) c.2660T>G (p.Leu887Ter) c.*1143T>G (n.*1143T>G) c.*2667T>G (n.*2667T>G) c.2417T>G (p.Leu806Ter) c.434T>G (p.Leu145Ter) c.493T>G c.1625T>G (p.Leu542Ter) c.2753T>G (p.Leu918Ter) c.2933T>G (p.Leu978Ter) c.2600T>G (p.Leu867Ter) | |
7 | g.117603717T= | CA1737375313 | CFTR | c.2843T= (p.Leu948=) c.*2557T= (n.*2557T=) c.2660T= (p.Leu887=) c.*1143T= (n.*1143T=) c.*2667T= (n.*2667T=) c.2417T= (p.Leu806=) c.434T= (p.Leu145=) c.493T= c.1625T= (p.Leu542=) c.2753T= (p.Leu918=) c.2933T= (p.Leu978=) c.2600T= (p.Leu867=) | |
7 | g.117603718A= | CA1737375319 | CFTR | c.2844A= (p.Leu948=) c.*2558A= (n.*2558A=) c.2661A= (p.Leu887=) c.*1144A= (n.*1144A=) c.*2668A= (n.*2668A=) c.2418A= (p.Leu806=) c.435A= (p.Leu145=) c.494A= c.1626A= (p.Leu542=) c.2754A= (p.Leu918=) c.2934A= (p.Leu978=) c.2601A= (p.Leu867=) | |
7 | g.117603718A>C | CA368987213 | CFTR | c.2844A>C (p.Leu948Phe) c.*2558A>C (n.*2558A>C) c.2661A>C (p.Leu887Phe) c.*1144A>C (n.*1144A>C) c.*2668A>C (n.*2668A>C) c.2418A>C (p.Leu806Phe) c.435A>C (p.Leu145Phe) c.494A>C c.1626A>C (p.Leu542Phe) c.2754A>C (p.Leu918Phe) c.2934A>C (p.Leu978Phe) c.2601A>C (p.Leu867Phe) | ClinVar gnomAD v4 |
7 | g.117603718A>G | CA457228016 | CFTR | c.2844A>G (p.Leu948=) c.*2558A>G (n.*2558A>G) c.2661A>G (p.Leu887=) c.*1144A>G (n.*1144A>G) c.*2668A>G (n.*2668A>G) c.2418A>G (p.Leu806=) c.435A>G (p.Leu145=) c.494A>G c.1626A>G (p.Leu542=) c.2754A>G (p.Leu918=) c.2934A>G (p.Leu978=) c.2601A>G (p.Leu867=) | gnomAD v4 |
7 | g.117603718A>T | CA368987215 | CFTR | c.2844A>T (p.Leu948Phe) c.*2558A>T (n.*2558A>T) c.2661A>T (p.Leu887Phe) c.*1144A>T (n.*1144A>T) c.*2668A>T (n.*2668A>T) c.2418A>T (p.Leu806Phe) c.435A>T (p.Leu145Phe) c.494A>T c.1626A>T (p.Leu542Phe) c.2754A>T (p.Leu918Phe) c.2934A>T (p.Leu978Phe) c.2601A>T (p.Leu867Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603719C>A | CA368987219 | CFTR | c.2845C>A (p.His949Asn) c.*2559C>A (n.*2559C>A) c.2662C>A (p.His888Asn) c.*1145C>A (n.*1145C>A) c.*2669C>A (n.*2669C>A) c.2419C>A (p.His807Asn) c.436C>A (p.His146Asn) c.495C>A c.1627C>A (p.His543Asn) c.2755C>A (p.His919Asn) c.2935C>A (p.His979Asn) c.2602C>A (p.His868Asn) | |
7 | g.117603719C= | CA1737375325 | CFTR | c.2845C= (p.His949=) c.*2559C= (n.*2559C=) c.2662C= (p.His888=) c.*1145C= (n.*1145C=) c.*2669C= (n.*2669C=) c.2419C= (p.His807=) c.436C= (p.His146=) c.495C= c.1627C= (p.His543=) c.2755C= (p.His919=) c.2935C= (p.His979=) c.2602C= (p.His868=) | |
7 | g.117603719C>G | CA368987220 | CFTR | c.2845C>G (p.His949Asp) c.*2559C>G (n.*2559C>G) c.2662C>G (p.His888Asp) c.*1145C>G (n.*1145C>G) c.*2669C>G (n.*2669C>G) c.2419C>G (p.His807Asp) c.436C>G (p.His146Asp) c.495C>G c.1627C>G (p.His543Asp) c.2755C>G (p.His919Asp) c.2935C>G (p.His979Asp) c.2602C>G (p.His868Asp) | |
7 | g.117603719C>T | CA325595 | CFTR | c.2845C>T (p.His949Tyr) c.*2559C>T (n.*2559C>T) c.2662C>T (p.His888Tyr) c.*1145C>T (n.*1145C>T) c.*2669C>T (n.*2669C>T) c.2419C>T (p.His807Tyr) c.436C>T (p.His146Tyr) c.495C>T c.1627C>T (p.His543Tyr) c.2755C>T (p.His919Tyr) c.2935C>T (p.His979Tyr) c.2602C>T (p.His868Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603720A= | CA1737375341 | CFTR | c.2846A= (p.His949=) c.*2560A= (n.*2560A=) c.2663A= (p.His888=) c.*1146A= (n.*1146A=) c.*2670A= (n.*2670A=) c.2420A= (p.His807=) c.437A= (p.His146=) c.496A= c.1628A= (p.His543=) c.2756A= (p.His919=) c.2936A= (p.His979=) c.2603A= (p.His868=) | |
7 | g.117603720A>C | CA368987228 | CFTR | c.2846A>C (p.His949Pro) c.*2560A>C (n.*2560A>C) c.2663A>C (p.His888Pro) c.*1146A>C (n.*1146A>C) c.*2670A>C (n.*2670A>C) c.2420A>C (p.His807Pro) c.437A>C (p.His146Pro) c.496A>C c.1628A>C (p.His543Pro) c.2756A>C (p.His919Pro) c.2936A>C (p.His979Pro) c.2603A>C (p.His868Pro) | |
7 | g.117603720A>G | CA326940 | CFTR | c.2846A>G (p.His949Arg) c.*2560A>G (n.*2560A>G) c.2663A>G (p.His888Arg) c.*1146A>G (n.*1146A>G) c.*2670A>G (n.*2670A>G) c.2420A>G (p.His807Arg) c.437A>G (p.His146Arg) c.496A>G c.1628A>G (p.His543Arg) c.2756A>G (p.His919Arg) c.2936A>G (p.His979Arg) c.2603A>G (p.His868Arg) | ClinVar dbSNP |
7 | g.117603720A>T | CA326942 | CFTR | c.2846A>T (p.His949Leu) c.*2560A>T (n.*2560A>T) c.2663A>T (p.His888Leu) c.*1146A>T (n.*1146A>T) c.*2670A>T (n.*2670A>T) c.2420A>T (p.His807Leu) c.437A>T (p.His146Leu) c.496A>T c.1628A>T (p.His543Leu) c.2756A>T (p.His919Leu) c.2936A>T (p.His979Leu) c.2603A>T (p.His868Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603721C>A | CA368987239 | CFTR | c.2847C>A (p.His949Gln) c.*2561C>A (n.*2561C>A) c.2664C>A (p.His888Gln) c.*1147C>A (n.*1147C>A) c.*2671C>A (n.*2671C>A) c.2421C>A (p.His807Gln) c.438C>A (p.His146Gln) c.497C>A c.1629C>A (p.His543Gln) c.2757C>A (p.His919Gln) c.2937C>A (p.His979Gln) c.2604C>A (p.His868Gln) | gnomAD v4 |
7 | g.117603721C= | CA1737375350 | CFTR | c.2847C= (p.His949=) c.*2561C= (n.*2561C=) c.2664C= (p.His888=) c.*1147C= (n.*1147C=) c.*2671C= (n.*2671C=) c.2421C= (p.His807=) c.438C= (p.His146=) c.497C= c.1629C= (p.His543=) c.2757C= (p.His919=) c.2937C= (p.His979=) c.2604C= (p.His868=) | |
7 | g.117603721C>G | CA368987241 | CFTR | c.2847C>G (p.His949Gln) c.*2561C>G (n.*2561C>G) c.2664C>G (p.His888Gln) c.*1147C>G (n.*1147C>G) c.*2671C>G (n.*2671C>G) c.2421C>G (p.His807Gln) c.438C>G (p.His146Gln) c.497C>G c.1629C>G (p.His543Gln) c.2757C>G (p.His919Gln) c.2937C>G (p.His979Gln) c.2604C>G (p.His868Gln) | gnomAD v4 |
7 | g.117603721C>T | CA4451298 | CFTR | c.2847C>T (p.His949=) c.*2561C>T (n.*2561C>T) c.2664C>T (p.His888=) c.*1147C>T (n.*1147C>T) c.*2671C>T (n.*2671C>T) c.2421C>T (p.His807=) c.438C>T (p.His146=) c.497C>T c.1629C>T (p.His543=) c.2757C>T (p.His919=) c.2937C>T (p.His979=) c.2604C>T (p.His868=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603722del | CA2573052804 | CFTR | c.2848del (p.His950ThrfsTer18) c.*2562del (n.*2562del) c.2665del (p.His889ThrfsTer18) c.*1148del (n.*1148del) c.*2672del (n.*2672del) c.2422del (p.His808ThrfsTer18) c.439del (p.His147ThrfsTer18) c.498del c.1630del (p.His544ThrfsTer18) c.2758del (p.His920ThrfsTer18) c.2938del (p.His980ThrfsTer18) c.2605del (p.His869ThrfsTer18) | ClinVar dbSNP |
7 | g.117603722C>A | CA368987244 | CFTR | c.2848C>A (p.His950Asn) c.*2562C>A (n.*2562C>A) c.2665C>A (p.His889Asn) c.*1148C>A (n.*1148C>A) c.*2672C>A (n.*2672C>A) c.2422C>A (p.His808Asn) c.439C>A (p.His147Asn) c.498C>A c.1630C>A (p.His544Asn) c.2758C>A (p.His920Asn) c.2938C>A (p.His980Asn) c.2605C>A (p.His869Asn) | |
7 | g.117603722C>G | CA368987248 | CFTR | c.2848C>G (p.His950Asp) c.*2562C>G (n.*2562C>G) c.2665C>G (p.His889Asp) c.*1148C>G (n.*1148C>G) c.*2672C>G (n.*2672C>G) c.2422C>G (p.His808Asp) c.439C>G (p.His147Asp) c.498C>G c.1630C>G (p.His544Asp) c.2758C>G (p.His920Asp) c.2938C>G (p.His980Asp) c.2605C>G (p.His869Asp) | |
7 | g.117603722C>T | CA368987253 | CFTR | c.2848C>T (p.His950Tyr) c.*2562C>T (n.*2562C>T) c.2665C>T (p.His889Tyr) c.*1148C>T (n.*1148C>T) c.*2672C>T (n.*2672C>T) c.2422C>T (p.His808Tyr) c.439C>T (p.His147Tyr) c.498C>T c.1630C>T (p.His544Tyr) c.2758C>T (p.His920Tyr) c.2938C>T (p.His980Tyr) c.2605C>T (p.His869Tyr) | ClinVar |
7 | g.117603722_117603723insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA | CA2684587832 | CFTR | c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His950ProfsTer39) c.*2562_*2563insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (n.*2562_*2563insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA) c.2665_2666insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His889ProfsTer39) c.*1148_*1149insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (n.*1148_*1149insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA) c.*2672_*2673insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (n.*2672_*2673insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA) c.2422_2423insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His808ProfsTer39) c.439_440insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His147ProfsTer39) c.498_499insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA c.1630_1631insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His544ProfsTer39) c.2758_2759insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His920ProfsTer39) c.2938_2939insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His980ProfsTer39) c.2605_2606insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His869ProfsTer39) | gnomAD v4 |
7 | g.117603723A= | CA1737375354 | CFTR | c.2849A= (p.His950=) c.*2563A= (n.*2563A=) c.2666A= (p.His889=) c.*1149A= (n.*1149A=) c.*2673A= (n.*2673A=) c.2423A= (p.His808=) c.440A= (p.His147=) c.499A= c.1631A= (p.His544=) c.2759A= (p.His920=) c.2939A= (p.His980=) c.2606A= (p.His869=) | |
7 | g.117603723A>C | CA368987256 | CFTR | c.2849A>C (p.His950Pro) c.*2563A>C (n.*2563A>C) c.2666A>C (p.His889Pro) c.*1149A>C (n.*1149A>C) c.*2673A>C (n.*2673A>C) c.2423A>C (p.His808Pro) c.440A>C (p.His147Pro) c.499A>C c.1631A>C (p.His544Pro) c.2759A>C (p.His920Pro) c.2939A>C (p.His980Pro) c.2606A>C (p.His869Pro) | |
7 | g.117603723A>G | CA368987258 | CFTR | c.2849A>G (p.His950Arg) c.*2563A>G (n.*2563A>G) c.2666A>G (p.His889Arg) c.*1149A>G (n.*1149A>G) c.*2673A>G (n.*2673A>G) c.2423A>G (p.His808Arg) c.440A>G (p.His147Arg) c.499A>G c.1631A>G (p.His544Arg) c.2759A>G (p.His920Arg) c.2939A>G (p.His980Arg) c.2606A>G (p.His869Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603723A>T | CA368987261 | CFTR | c.2849A>T (p.His950Leu) c.*2563A>T (n.*2563A>T) c.2666A>T (p.His889Leu) c.*1149A>T (n.*1149A>T) c.*2673A>T (n.*2673A>T) c.2423A>T (p.His808Leu) c.440A>T (p.His147Leu) c.499A>T c.1631A>T (p.His544Leu) c.2759A>T (p.His920Leu) c.2939A>T (p.His980Leu) c.2606A>T (p.His869Leu) | |
7 | g.117603724C>A | CA368987267 | CFTR | c.2850C>A (p.His950Gln) c.*2564C>A (n.*2564C>A) c.2667C>A (p.His889Gln) c.*1150C>A (n.*1150C>A) c.*2674C>A (n.*2674C>A) c.2424C>A (p.His808Gln) c.441C>A (p.His147Gln) c.500C>A c.1632C>A (p.His544Gln) c.2760C>A (p.His920Gln) c.2940C>A (p.His980Gln) c.2607C>A (p.His869Gln) | |
7 | g.117603724C>G | CA368987265 | CFTR | c.2850C>G (p.His950Gln) c.*2564C>G (n.*2564C>G) c.2667C>G (p.His889Gln) c.*1150C>G (n.*1150C>G) c.*2674C>G (n.*2674C>G) c.2424C>G (p.His808Gln) c.441C>G (p.His147Gln) c.500C>G c.1632C>G (p.His544Gln) c.2760C>G (p.His920Gln) c.2940C>G (p.His980Gln) c.2607C>G (p.His869Gln) | gnomAD v4 |
7 | g.117603724C>T | CA457228017 | CFTR | c.2850C>T (p.His950=) c.*2564C>T (n.*2564C>T) c.2667C>T (p.His889=) c.*1150C>T (n.*1150C>T) c.*2674C>T (n.*2674C>T) c.2424C>T (p.His808=) c.441C>T (p.His147=) c.500C>T c.1632C>T (p.His544=) c.2760C>T (p.His920=) c.2940C>T (p.His980=) c.2607C>T (p.His869=) | ClinVar |
7 | g.117603724_117603725delinsCA | CA1737375359 | CFTR | c.2850_2851delinsCA (p.His950=) c.*2564_*2565delinsCA (n.*2564_*2565delinsCA) c.2667_2668delinsCA (p.His889=) c.*1150_*1151delinsCA (n.*1150_*1151delinsCA) c.*2674_*2675delinsCA (n.*2674_*2675delinsCA) c.2424_2425delinsCA (p.His808=) c.441_442delinsCA (p.His147=) c.500_501delinsCA c.1632_1633delinsCA (p.His544=) c.2760_2761delinsCA (p.His920=) c.2940_2941delinsCA (p.His980=) c.2607_2608delinsCA (p.His869=) | |
7 | g.117603725A= | CA1737375370 | CFTR | c.2851A= (p.Lys951=) c.*2565A= (n.*2565A=) c.2668A= (p.Lys890=) c.*1151A= (n.*1151A=) c.*2675A= (n.*2675A=) c.2425A= (p.Lys809=) c.442A= (p.Lys148=) c.501A= c.1633A= (p.Lys545=) c.2761A= (p.Lys921=) c.2941A= (p.Lys981=) c.2608A= (p.Lys870=) | |
7 | g.117603725A>C | CA368987268 | CFTR | c.2851A>C (p.Lys951Gln) c.*2565A>C (n.*2565A>C) c.2668A>C (p.Lys890Gln) c.*1151A>C (n.*1151A>C) c.*2675A>C (n.*2675A>C) c.2425A>C (p.Lys809Gln) c.442A>C (p.Lys148Gln) c.501A>C c.1633A>C (p.Lys545Gln) c.2761A>C (p.Lys921Gln) c.2941A>C (p.Lys981Gln) c.2608A>C (p.Lys870Gln) | gnomAD v4 |
7 | g.117603725A>G | CA4451299 | CFTR | c.2851A>G (p.Lys951Glu) c.*2565A>G (n.*2565A>G) c.2668A>G (p.Lys890Glu) c.*1151A>G (n.*1151A>G) c.*2675A>G (n.*2675A>G) c.2425A>G (p.Lys809Glu) c.442A>G (p.Lys148Glu) c.501A>G c.1633A>G (p.Lys545Glu) c.2761A>G (p.Lys921Glu) c.2941A>G (p.Lys981Glu) c.2608A>G (p.Lys870Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603725A>T | CA368987269 | CFTR | c.2851A>T (p.Lys951Ter) c.*2565A>T (n.*2565A>T) c.2668A>T (p.Lys890Ter) c.*1151A>T (n.*1151A>T) c.*2675A>T (n.*2675A>T) c.2425A>T (p.Lys809Ter) c.442A>T (p.Lys148Ter) c.501A>T c.1633A>T (p.Lys545Ter) c.2761A>T (p.Lys921Ter) c.2941A>T (p.Lys981Ter) c.2608A>T (p.Lys870Ter) | gnomAD v4 |
7 | g.117603728del | CA16041134 | CFTR | c.2854del (p.Met952CysfsTer16) c.*2568del (n.*2568del) c.2671del (p.Met891CysfsTer16) c.*1154del (n.*1154del) c.*2678del (n.*2678del) c.2428del (p.Met810CysfsTer16) c.445del (p.Met149CysfsTer16) c.504del c.1636del (p.Met546CysfsTer16) c.2764del (p.Met922CysfsTer16) c.2944del (p.Met982CysfsTer16) c.2611del (p.Met871CysfsTer16) | ClinVar dbSNP |
7 | g.117603726A= | CA1737375376 | CFTR | c.2852A= (p.Lys951=) c.*2566A= (n.*2566A=) c.2669A= (p.Lys890=) c.*1152A= (n.*1152A=) c.*2676A= (n.*2676A=) c.2426A= (p.Lys809=) c.443A= (p.Lys148=) c.502A= c.1634A= (p.Lys545=) c.2762A= (p.Lys921=) c.2942A= (p.Lys981=) c.2609A= (p.Lys870=) | |
7 | g.117603726A>C | CA368987275 | CFTR | c.2852A>C (p.Lys951Thr) c.*2566A>C (n.*2566A>C) c.2669A>C (p.Lys890Thr) c.*1152A>C (n.*1152A>C) c.*2676A>C (n.*2676A>C) c.2426A>C (p.Lys809Thr) c.443A>C (p.Lys148Thr) c.502A>C c.1634A>C (p.Lys545Thr) c.2762A>C (p.Lys921Thr) c.2942A>C (p.Lys981Thr) c.2609A>C (p.Lys870Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603726A>G | CA368987296 | CFTR | c.2852A>G (p.Lys951Arg) c.*2566A>G (n.*2566A>G) c.2669A>G (p.Lys890Arg) c.*1152A>G (n.*1152A>G) c.*2676A>G (n.*2676A>G) c.2426A>G (p.Lys809Arg) c.443A>G (p.Lys148Arg) c.502A>G c.1634A>G (p.Lys545Arg) c.2762A>G (p.Lys921Arg) c.2942A>G (p.Lys981Arg) c.2609A>G (p.Lys870Arg) | |
7 | g.117603726A>T | CA368987298 | CFTR | c.2852A>T (p.Lys951Ile) c.*2566A>T (n.*2566A>T) c.2669A>T (p.Lys890Ile) c.*1152A>T (n.*1152A>T) c.*2676A>T (n.*2676A>T) c.2426A>T (p.Lys809Ile) c.443A>T (p.Lys148Ile) c.502A>T c.1634A>T (p.Lys545Ile) c.2762A>T (p.Lys921Ile) c.2942A>T (p.Lys981Ile) c.2609A>T (p.Lys870Ile) | |
7 | g.117603727A>C | CA368987302 | CFTR | c.2853A>C (p.Lys951Asn) c.*2567A>C (n.*2567A>C) c.2670A>C (p.Lys890Asn) c.*1153A>C (n.*1153A>C) c.*2677A>C (n.*2677A>C) c.2427A>C (p.Lys809Asn) c.444A>C (p.Lys148Asn) c.503A>C c.1635A>C (p.Lys545Asn) c.2763A>C (p.Lys921Asn) c.2943A>C (p.Lys981Asn) c.2610A>C (p.Lys870Asn) | |
7 | g.117603727A>G | CA457228018 | CFTR | c.2853A>G (p.Lys951=) c.*2567A>G (n.*2567A>G) c.2670A>G (p.Lys890=) c.*1153A>G (n.*1153A>G) c.*2677A>G (n.*2677A>G) c.2427A>G (p.Lys809=) c.444A>G (p.Lys148=) c.503A>G c.1635A>G (p.Lys545=) c.2763A>G (p.Lys921=) c.2943A>G (p.Lys981=) c.2610A>G (p.Lys870=) | |
7 | g.117603727A>T | CA368987304 | CFTR | c.2853A>T (p.Lys951Asn) c.*2567A>T (n.*2567A>T) c.2670A>T (p.Lys890Asn) c.*1153A>T (n.*1153A>T) c.*2677A>T (n.*2677A>T) c.2427A>T (p.Lys809Asn) c.444A>T (p.Lys148Asn) c.503A>T c.1635A>T (p.Lys545Asn) c.2763A>T (p.Lys921Asn) c.2943A>T (p.Lys981Asn) c.2610A>T (p.Lys870Asn) | |
7 | g.117603727_117603728insCCAAACACACCCAACAC | CA2777586095 | CFTR | c.2853_2854insCCAAACACACCCAACAC (p.Met952ProfsTer22) c.*2567_*2568insCCAAACACACCCAACAC (n.*2567_*2568insCCAAACACACCCAACAC) c.2670_2671insCCAAACACACCCAACAC (p.Met891ProfsTer22) c.*1153_*1154insCCAAACACACCCAACAC (n.*1153_*1154insCCAAACACACCCAACAC) c.*2677_*2678insCCAAACACACCCAACAC (n.*2677_*2678insCCAAACACACCCAACAC) c.2427_2428insCCAAACACACCCAACAC (p.Met810ProfsTer22) c.444_445insCCAAACACACCCAACAC (p.Met149ProfsTer22) c.503_504insCCAAACACACCCAACAC c.1635_1636insCCAAACACACCCAACAC (p.Met546ProfsTer22) c.2763_2764insCCAAACACACCCAACAC (p.Met922ProfsTer22) c.2943_2944insCCAAACACACCCAACAC (p.Met982ProfsTer22) c.2610_2611insCCAAACACACCCAACAC (p.Met871ProfsTer22) | |
7 | g.117603727_117603728insCCCCCAAACACACCCAACAC | CA2777586099 | CFTR | c.2853_2854insCCCCCAAACACACCCAACAC (p.Met952ProfsTer23) c.*2567_*2568insCCCCCAAACACACCCAACAC (n.*2567_*2568insCCCCCAAACACACCCAACAC) c.2670_2671insCCCCCAAACACACCCAACAC (p.Met891ProfsTer23) c.*1153_*1154insCCCCCAAACACACCCAACAC (n.*1153_*1154insCCCCCAAACACACCCAACAC) c.*2677_*2678insCCCCCAAACACACCCAACAC (n.*2677_*2678insCCCCCAAACACACCCAACAC) c.2427_2428insCCCCCAAACACACCCAACAC (p.Met810ProfsTer23) c.444_445insCCCCCAAACACACCCAACAC (p.Met149ProfsTer23) c.503_504insCCCCCAAACACACCCAACAC c.1635_1636insCCCCCAAACACACCCAACAC (p.Met546ProfsTer23) c.2763_2764insCCCCCAAACACACCCAACAC (p.Met922ProfsTer23) c.2943_2944insCCCCCAAACACACCCAACAC (p.Met982ProfsTer23) c.2610_2611insCCCCCAAACACACCCAACAC (p.Met871ProfsTer23) | |
7 | g.117603728A>C | CA368987309 | CFTR | c.2854A>C (p.Met952Leu) c.*2568A>C (n.*2568A>C) c.2671A>C (p.Met891Leu) c.*1154A>C (n.*1154A>C) c.*2678A>C (n.*2678A>C) c.2428A>C (p.Met810Leu) c.445A>C (p.Met149Leu) c.504A>C c.1636A>C (p.Met546Leu) c.2764A>C (p.Met922Leu) c.2944A>C (p.Met982Leu) c.2611A>C (p.Met871Leu) | |
7 | g.117603728A>G | CA368987312 | CFTR | c.2854A>G (p.Met952Val) c.*2568A>G (n.*2568A>G) c.2671A>G (p.Met891Val) c.*1154A>G (n.*1154A>G) c.*2678A>G (n.*2678A>G) c.2428A>G (p.Met810Val) c.445A>G (p.Met149Val) c.504A>G c.1636A>G (p.Met546Val) c.2764A>G (p.Met922Val) c.2944A>G (p.Met982Val) c.2611A>G (p.Met871Val) | ClinVar gnomAD v4 |
7 | g.117603728A>T | CA368987317 | CFTR | c.2854A>T (p.Met952Leu) c.*2568A>T (n.*2568A>T) c.2671A>T (p.Met891Leu) c.*1154A>T (n.*1154A>T) c.*2678A>T (n.*2678A>T) c.2428A>T (p.Met810Leu) c.445A>T (p.Met149Leu) c.504A>T c.1636A>T (p.Met546Leu) c.2764A>T (p.Met922Leu) c.2944A>T (p.Met982Leu) c.2611A>T (p.Met871Leu) | |
7 | g.117603729T>A | CA368987320 | CFTR | c.2855T>A (p.Met952Lys) c.*2569T>A (n.*2569T>A) c.2672T>A (p.Met891Lys) c.*1155T>A (n.*1155T>A) c.*2679T>A (n.*2679T>A) c.2429T>A (p.Met810Lys) c.446T>A (p.Met149Lys) c.505T>A c.1637T>A (p.Met546Lys) c.2765T>A (p.Met922Lys) c.2945T>A (p.Met982Lys) c.2612T>A (p.Met871Lys) | |
7 | g.117603729T>C | CA326944 | CFTR | c.2855T>C (p.Met952Thr) c.*2569T>C (n.*2569T>C) c.2672T>C (p.Met891Thr) c.*1155T>C (n.*1155T>C) c.*2679T>C (n.*2679T>C) c.2429T>C (p.Met810Thr) c.446T>C (p.Met149Thr) c.505T>C c.1637T>C (p.Met546Thr) c.2765T>C (p.Met922Thr) c.2945T>C (p.Met982Thr) c.2612T>C (p.Met871Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603729T>G | CA368987324 | CFTR | c.2855T>G (p.Met952Arg) c.*2569T>G (n.*2569T>G) c.2672T>G (p.Met891Arg) c.*1155T>G (n.*1155T>G) c.*2679T>G (n.*2679T>G) c.2429T>G (p.Met810Arg) c.446T>G (p.Met149Arg) c.505T>G c.1637T>G (p.Met546Arg) c.2765T>G (p.Met922Arg) c.2945T>G (p.Met982Arg) c.2612T>G (p.Met871Arg) | ClinVar |
7 | g.117603729T= | CA1737375381 | CFTR | c.2855T= (p.Met952=) c.*2569T= (n.*2569T=) c.2672T= (p.Met891=) c.*1155T= (n.*1155T=) c.*2679T= (n.*2679T=) c.2429T= (p.Met810=) c.446T= (p.Met149=) c.505T= c.1637T= (p.Met546=) c.2765T= (p.Met922=) c.2945T= (p.Met982=) c.2612T= (p.Met871=) | |
7 | g.117603730G>A | CA4451300 | CFTR | c.2856G>A (p.Met952Ile) c.*2570G>A (n.*2570G>A) c.2673G>A (p.Met891Ile) c.*1156G>A (n.*1156G>A) c.*2680G>A (n.*2680G>A) c.2430G>A (p.Met810Ile) c.447G>A (p.Met149Ile) c.506G>A c.1638G>A (p.Met546Ile) c.2766G>A (p.Met922Ile) c.2946G>A (p.Met982Ile) c.2613G>A (p.Met871Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603730G>C | CA326946 | CFTR | c.2856G>C (p.Met952Ile) c.*2570G>C (n.*2570G>C) c.2673G>C (p.Met891Ile) c.*1156G>C (n.*1156G>C) c.*2680G>C (n.*2680G>C) c.2430G>C (p.Met810Ile) c.447G>C (p.Met149Ile) c.506G>C c.1638G>C (p.Met546Ile) c.2766G>C (p.Met922Ile) c.2946G>C (p.Met982Ile) c.2613G>C (p.Met871Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603730G= | CA1737375395 | CFTR | c.2856G= (p.Met952=) c.*2570G= (n.*2570G=) c.2673G= (p.Met891=) c.*1156G= (n.*1156G=) c.*2680G= (n.*2680G=) c.2430G= (p.Met810=) c.447G= (p.Met149=) c.506G= c.1638G= (p.Met546=) c.2766G= (p.Met922=) c.2946G= (p.Met982=) c.2613G= (p.Met871=) | |
7 | g.117603730G>T | CA368987334 | CFTR | c.2856G>T (p.Met952Ile) c.*2570G>T (n.*2570G>T) c.2673G>T (p.Met891Ile) c.*1156G>T (n.*1156G>T) c.*2680G>T (n.*2680G>T) c.2430G>T (p.Met810Ile) c.447G>T (p.Met149Ile) c.506G>T c.1638G>T (p.Met546Ile) c.2766G>T (p.Met922Ile) c.2946G>T (p.Met982Ile) c.2613G>T (p.Met871Ile) | ClinVar |
7 | g.117603731T>A | CA368987336 | CFTR | c.2857T>A (p.Leu953Ile) c.*2571T>A (n.*2571T>A) c.2674T>A (p.Leu892Ile) c.*1157T>A (n.*1157T>A) c.*2681T>A (n.*2681T>A) c.2431T>A (p.Leu811Ile) c.448T>A (p.Leu150Ile) c.507T>A c.1639T>A (p.Leu547Ile) c.2767T>A (p.Leu923Ile) c.2947T>A (p.Leu983Ile) c.2614T>A (p.Leu872Ile) | |
7 | g.117603731T>C | CA457228019 | CFTR | c.2857T>C (p.Leu953=) c.*2571T>C (n.*2571T>C) c.2674T>C (p.Leu892=) c.*1157T>C (n.*1157T>C) c.*2681T>C (n.*2681T>C) c.2431T>C (p.Leu811=) c.448T>C (p.Leu150=) c.507T>C c.1639T>C (p.Leu547=) c.2767T>C (p.Leu923=) c.2947T>C (p.Leu983=) c.2614T>C (p.Leu872=) | |
7 | g.117603731T>G | CA368987340 | CFTR | c.2857T>G (p.Leu953Val) c.*2571T>G (n.*2571T>G) c.2674T>G (p.Leu892Val) c.*1157T>G (n.*1157T>G) c.*2681T>G (n.*2681T>G) c.2431T>G (p.Leu811Val) c.448T>G (p.Leu150Val) c.507T>G c.1639T>G (p.Leu547Val) c.2767T>G (p.Leu923Val) c.2947T>G (p.Leu983Val) c.2614T>G (p.Leu872Val) | |
7 | g.117603732T>A | CA368987350 | CFTR | c.2858T>A (p.Leu953Ter) c.*2572T>A (n.*2572T>A) c.2675T>A (p.Leu892Ter) c.*1158T>A (n.*1158T>A) c.*2682T>A (n.*2682T>A) c.2432T>A (p.Leu811Ter) c.449T>A (p.Leu150Ter) c.508T>A c.1640T>A (p.Leu547Ter) c.2768T>A (p.Leu923Ter) c.2948T>A (p.Leu983Ter) c.2615T>A (p.Leu872Ter) | |
7 | g.117603732T>C | CA368987346 | CFTR | c.2858T>C (p.Leu953Ser) c.*2572T>C (n.*2572T>C) c.2675T>C (p.Leu892Ser) c.*1158T>C (n.*1158T>C) c.*2682T>C (n.*2682T>C) c.2432T>C (p.Leu811Ser) c.449T>C (p.Leu150Ser) c.508T>C c.1640T>C (p.Leu547Ser) c.2768T>C (p.Leu923Ser) c.2948T>C (p.Leu983Ser) c.2615T>C (p.Leu872Ser) | |
7 | g.117603732T>G | CA368987343 | CFTR | c.2858T>G (p.Leu953Ter) c.*2572T>G (n.*2572T>G) c.2675T>G (p.Leu892Ter) c.*1158T>G (n.*1158T>G) c.*2682T>G (n.*2682T>G) c.2432T>G (p.Leu811Ter) c.449T>G (p.Leu150Ter) c.508T>G c.1640T>G (p.Leu547Ter) c.2768T>G (p.Leu923Ter) c.2948T>G (p.Leu983Ter) c.2615T>G (p.Leu872Ter) | |
7 | g.117603732_117603764delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC | CA1737375406 | CFTR | c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu953=) c.*2572_*2604delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (n.*2572_*2604delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC) c.2675_2707delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu892=) c.*1158_*1190delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (n.*1158_*1190delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC) c.*2682_*2714delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (n.*2682_*2714delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC) c.2432_2464delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu811=) c.449_481delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu150=) c.508_540delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC c.1640_1672delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu547=) c.2768_2800delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu923=) c.2948_2980delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu983=) c.2615_2647delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu872=) | |
7 | g.117603733A= | CA1737375423 | CFTR | c.2859A= (p.Leu953=) c.*2573A= (n.*2573A=) c.2676A= (p.Leu892=) c.*1159A= (n.*1159A=) c.*2683A= (n.*2683A=) c.2433A= (p.Leu811=) c.450A= (p.Leu150=) c.509A= c.1641A= (p.Leu547=) c.2769A= (p.Leu923=) c.2949A= (p.Leu983=) c.2616A= (p.Leu872=) | |
7 | g.117603733A>C | CA368987354 | CFTR | c.2859A>C (p.Leu953Phe) c.*2573A>C (n.*2573A>C) c.2676A>C (p.Leu892Phe) c.*1159A>C (n.*1159A>C) c.*2683A>C (n.*2683A>C) c.2433A>C (p.Leu811Phe) c.450A>C (p.Leu150Phe) c.509A>C c.1641A>C (p.Leu547Phe) c.2769A>C (p.Leu923Phe) c.2949A>C (p.Leu983Phe) c.2616A>C (p.Leu872Phe) | |
7 | g.117603733A>G | CA4451301 | CFTR | c.2859A>G (p.Leu953=) c.*2573A>G (n.*2573A>G) c.2676A>G (p.Leu892=) c.*1159A>G (n.*1159A>G) c.*2683A>G (n.*2683A>G) c.2433A>G (p.Leu811=) c.450A>G (p.Leu150=) c.509A>G c.1641A>G (p.Leu547=) c.2769A>G (p.Leu923=) c.2949A>G (p.Leu983=) c.2616A>G (p.Leu872=) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.117603733A>T | CA368987360 | CFTR | c.2859A>T (p.Leu953Phe) c.*2573A>T (n.*2573A>T) c.2676A>T (p.Leu892Phe) c.*1159A>T (n.*1159A>T) c.*2683A>T (n.*2683A>T) c.2433A>T (p.Leu811Phe) c.450A>T (p.Leu150Phe) c.509A>T c.1641A>T (p.Leu547Phe) c.2769A>T (p.Leu923Phe) c.2949A>T (p.Leu983Phe) c.2616A>T (p.Leu872Phe) | |
7 | g.117603733_117603764del | CA326947 | CFTR | c.2859_2890del (p.Leu953PhefsTer11) c.*2573_*2604del (n.*2573_*2604del) c.2676_2707del (p.Leu892PhefsTer11) c.*1159_*1190del (n.*1159_*1190del) c.*2683_*2714del (n.*2683_*2714del) c.2433_2464del (p.Leu811PhefsTer11) c.450_481del (p.Leu150PhefsTer11) c.509_540del c.1641_1672del (p.Leu547PhefsTer11) c.2769_2800del (p.Leu923PhefsTer11) c.2949_2980del (p.Leu983PhefsTer11) c.2616_2647del (p.Leu872PhefsTer11) | ClinVar dbSNP gnomAD v2 |
7 | g.117603733_117603767delinsTCAAG | CA2580617913 | CFTR | c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp) c.*2573_*2607delinsTCAAG (n.*2573_*2607delinsTCAAG) c.2676_2710delinsTCAAG (p.Leu892_Asn904delinsPheGlnAsp) c.*1159_*1193delinsTCAAG (n.*1159_*1193delinsTCAAG) c.*2683_*2717delinsTCAAG (n.*2683_*2717delinsTCAAG) c.2433_2467delinsTCAAG (p.Leu811_Asn823delinsPheGlnAsp) c.450_484delinsTCAAG (p.Leu150_Asn162delinsPheGlnAsp) c.509_543delinsTCAAG c.1641_1675delinsTCAAG (p.Leu547_Asn559delinsPheGlnAsp) c.2769_2803delinsTCAAG (p.Leu923_Asn935delinsPheGlnAsp) c.2949_2983delinsTCAAG (p.Leu983_Asn995delinsPheGlnAsp) c.2616_2650delinsTCAAG (p.Leu872_Asn884delinsPheGlnAsp) | ClinVar |
7 | g.117603734C>A | CA368987367 | CFTR | c.2860C>A (p.His954Asn) c.*2574C>A (n.*2574C>A) c.2677C>A (p.His893Asn) c.*1160C>A (n.*1160C>A) c.*2684C>A (n.*2684C>A) c.2434C>A (p.His812Asn) c.451C>A (p.His151Asn) c.510C>A c.1642C>A (p.His548Asn) c.2770C>A (p.His924Asn) c.2950C>A (p.His984Asn) c.2617C>A (p.His873Asn) | |
7 | g.117603734C= | CA1737375431 | CFTR | c.2860C= (p.His954=) c.*2574C= (n.*2574C=) c.2677C= (p.His893=) c.*1160C= (n.*1160C=) c.*2684C= (n.*2684C=) c.2434C= (p.His812=) c.451C= (p.His151=) c.510C= c.1642C= (p.His548=) c.2770C= (p.His924=) c.2950C= (p.His984=) c.2617C= (p.His873=) | |
7 | g.117603734C>G | CA368987363 | CFTR | c.2860C>G (p.His954Asp) c.*2574C>G (n.*2574C>G) c.2677C>G (p.His893Asp) c.*1160C>G (n.*1160C>G) c.*2684C>G (n.*2684C>G) c.2434C>G (p.His812Asp) c.451C>G (p.His151Asp) c.510C>G c.1642C>G (p.His548Asp) c.2770C>G (p.His924Asp) c.2950C>G (p.His984Asp) c.2617C>G (p.His873Asp) | |
7 | g.117603734C>T | CA4451302 | CFTR | c.2860C>T (p.His954Tyr) c.*2574C>T (n.*2574C>T) c.2677C>T (p.His893Tyr) c.*1160C>T (n.*1160C>T) c.*2684C>T (n.*2684C>T) c.2434C>T (p.His812Tyr) c.451C>T (p.His151Tyr) c.510C>T c.1642C>T (p.His548Tyr) c.2770C>T (p.His924Tyr) c.2950C>T (p.His984Tyr) c.2617C>T (p.His873Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603735A= | CA1737375437 | CFTR | c.2861A= (p.His954=) c.*2575A= (n.*2575A=) c.2678A= (p.His893=) c.*1161A= (n.*1161A=) c.*2685A= (n.*2685A=) c.2435A= (p.His812=) c.452A= (p.His151=) c.511A= c.1643A= (p.His548=) c.2771A= (p.His924=) c.2951A= (p.His984=) c.2618A= (p.His873=) | |
7 | g.117603735A>C | CA326948 | CFTR | c.2861A>C (p.His954Pro) c.*2575A>C (n.*2575A>C) c.2678A>C (p.His893Pro) c.*1161A>C (n.*1161A>C) c.*2685A>C (n.*2685A>C) c.2435A>C (p.His812Pro) c.452A>C (p.His151Pro) c.511A>C c.1643A>C (p.His548Pro) c.2771A>C (p.His924Pro) c.2951A>C (p.His984Pro) c.2618A>C (p.His873Pro) | ClinVar dbSNP |
7 | g.117603735A>G | CA368987372 | CFTR | c.2861A>G (p.His954Arg) c.*2575A>G (n.*2575A>G) c.2678A>G (p.His893Arg) c.*1161A>G (n.*1161A>G) c.*2685A>G (n.*2685A>G) c.2435A>G (p.His812Arg) c.452A>G (p.His151Arg) c.511A>G c.1643A>G (p.His548Arg) c.2771A>G (p.His924Arg) c.2951A>G (p.His984Arg) c.2618A>G (p.His873Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.117603735A>T | CA368987375 | CFTR | c.2861A>T (p.His954Leu) c.*2575A>T (n.*2575A>T) c.2678A>T (p.His893Leu) c.*1161A>T (n.*1161A>T) c.*2685A>T (n.*2685A>T) c.2435A>T (p.His812Leu) c.452A>T (p.His151Leu) c.511A>T c.1643A>T (p.His548Leu) c.2771A>T (p.His924Leu) c.2951A>T (p.His984Leu) c.2618A>T (p.His873Leu) | |
7 | g.117603736T>A | CA368987379 | CFTR | c.2862T>A (p.His954Gln) c.*2576T>A (n.*2576T>A) c.2679T>A (p.His893Gln) c.*1162T>A (n.*1162T>A) c.*2686T>A (n.*2686T>A) c.2436T>A (p.His812Gln) c.453T>A (p.His151Gln) c.512T>A c.1644T>A (p.His548Gln) c.2772T>A (p.His924Gln) c.2952T>A (p.His984Gln) c.2619T>A (p.His873Gln) | |
7 | g.117603736T>C | CA457228020 | CFTR | c.2862T>C (p.His954=) c.*2576T>C (n.*2576T>C) c.2679T>C (p.His893=) c.*1162T>C (n.*1162T>C) c.*2686T>C (n.*2686T>C) c.2436T>C (p.His812=) c.453T>C (p.His151=) c.512T>C c.1644T>C (p.His548=) c.2772T>C (p.His924=) c.2952T>C (p.His984=) c.2619T>C (p.His873=) | |
7 | g.117603736T>G | CA368987382 | CFTR | c.2862T>G (p.His954Gln) c.*2576T>G (n.*2576T>G) c.2679T>G (p.His893Gln) c.*1162T>G (n.*1162T>G) c.*2686T>G (n.*2686T>G) c.2436T>G (p.His812Gln) c.453T>G (p.His151Gln) c.512T>G c.1644T>G (p.His548Gln) c.2772T>G (p.His924Gln) c.2952T>G (p.His984Gln) c.2619T>G (p.His873Gln) |