Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602152_117612006delCA325806CFTRc.2620-674_3367+198del
c.*2334-674_*3081+198del
c.2437-674_3184+198del
c.*920-674_*1667+198del
c.*2444-674_*3191+198del
c.2194-674_2941+198del
c.211-674_958+198del
c.270-674_1017+198del
c.1402-674_2149+198del
c.2530-674_3277+198del
c.2710-674_3457+198del
c.2377-674_3124+198del
7g.117602152_117612040delCA2499218685CFTRc.2620-674_3367+232del
c.*2334-674_*3081+232del
c.2437-674_3184+232del
c.*920-674_*1667+232del
c.*2444-674_*3191+232del
c.2194-674_2941+232del
c.211-674_958+232del
c.270-674_1017+232del
c.1402-674_2149+232del
c.2530-674_3277+232del
c.2710-674_3457+232del
c.2377-674_3124+232del
 ClinVar
7g.117603640A=CA1737374915CFTRc.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=)
7g.117603640A>CCA457227958CFTRc.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=)
7g.117603640A>GCA4451285CFTRc.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
7g.117603640A>TCA457227959CFTRc.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=)
7g.117603641G>ACA368986708CFTRc.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)
7g.117603641G>CCA368986710CFTRc.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)
7g.117603641G>TCA368986713CFTRc.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)
7g.117603642C>ACA260222CFTRc.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
7g.117603642C=CA1737374927CFTRc.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=)
7g.117603642C>GCA368986716CFTRc.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
7g.117603642C>TCA368986719CFTRc.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)
7g.117603643C>ACA457227960CFTRc.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=)
7g.117603643C=CA1737374934CFTRc.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=)
7g.117603643C>GCA457227961CFTRc.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=)
7g.117603643C>TCA221014CFTRc.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
7g.117603644G>ACA326923CFTRc.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
7g.117603644G>CCA368986725CFTRc.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
7g.117603644G=CA1737374942CFTRc.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=)
7g.117603644G>TCA368986723CFTRc.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
7g.117603645A>CCA368986727CFTRc.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)
7g.117603645A>GCA368986729CFTRc.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
7g.117603645A>TCA368986731CFTRc.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)
7g.117603646C>ACA368986737CFTRc.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
7g.117603646C=CA1737374962CFTRc.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=)
7g.117603646C>GCA368986740CFTRc.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)
7g.117603646C>TCA457227962CFTRc.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
7g.117603647A=CA1737374972CFTRc.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=)
7g.117603647A>CCA368986742CFTRc.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)
7g.117603647A>GCA368986746CFTRc.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
7g.117603647A>TCA368986749CFTRc.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)
7g.117603648C>ACA368986752CFTRc.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
7g.117603648C=CA1737374982CFTRc.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=)
7g.117603648C>GCA368986755CFTRc.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
7g.117603648C>TCA164960163CFTRc.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
7g.117603648dupCA2579000253CFTRc.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?)
7g.117603648_117603650delinsCTTCA1737374978CFTRc.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=)
7g.117603649T>ACA457227963CFTRc.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=)
7g.117603649T>CCA457227964CFTRc.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=)
7g.117603649T>GCA457227965CFTRc.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=)
7g.117603651delCA326926CFTRc.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
7g.117603650_117603651delCA326925CFTRc.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
7g.117603650T>ACA368986762CFTRc.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)
7g.117603650T>CCA457227966CFTRc.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
7g.117603650T>GCA368986764CFTRc.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)
7g.117603651T>ACA368986768CFTRc.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)
7g.117603651T>CCA4451286CFTRc.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
7g.117603651T>GCA368986771CFTRc.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)
7g.117603651T=CA1737375014CFTRc.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=)
7g.117603652G>ACA457227967CFTRc.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
7g.117603652G>CCA368986774CFTRc.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)
7g.117603652G=CA1737375019CFTRc.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=)
7g.117603652G>TCA4451287CFTRc.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
7g.117603653_117603662dupCA2695208419CFTRc.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?)
7g.117603653C>ACA368986787CFTRc.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)
7g.117603653C>GCA368986783CFTRc.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)
7g.117603653C>TCA368986779CFTRc.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)
7g.117603654T>ACA368986791CFTRc.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
7g.117603654T>CCA328107CFTRc.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
7g.117603654T>GCA368986796CFTRc.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)
7g.117603654T=CA1737375026CFTRc.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=)
7g.117603655T>ACA457227968CFTRc.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
7g.117603655T>CCA457227970CFTRc.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=)
7g.117603655T>GCA457227969CFTRc.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=)
7g.117603655T=CA1737375032CFTRc.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=)
7g.117603656G>ACA368986801CFTRc.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)
7g.117603656G>CCA368986804CFTRc.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)
7g.117603656G>TCA368986806CFTRc.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)
7g.117603657C>ACA368986809CFTRc.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)
7g.117603657C>GCA368986814CFTRc.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)
7g.117603657C>TCA368986812CFTRc.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
7g.117603658T>ACA457227973CFTRc.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=)
7g.117603658T>CCA457227972CFTRc.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=)
7g.117603658T>GCA457227971CFTRc.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=)
7g.117603659A>CCA368986819CFTRc.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)
7g.117603659A>GCA368986822CFTRc.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)
7g.117603659A>TCA368986825CFTRc.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)
7g.117603660T>ACA368986828CFTRc.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
7g.117603660T>CCA368986831CFTRc.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)
7g.117603660T>GCA368986840CFTRc.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)
7g.117603661G>ACA368986843CFTRc.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
7g.117603661G>CCA368986845CFTRc.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)
7g.117603661G>TCA368986847CFTRc.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)
7g.117603663delCA2695208420CFTRc.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)
7g.117603662G>ACA368986848CFTRc.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)
7g.117603662G>CCA368986849CFTRc.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)
7g.117603662G>TCA368986851CFTRc.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
7g.117603663G>ACA368986853CFTRc.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)
7g.117603663G>CCA368986855CFTRc.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)
7g.117603663G>TCA368986854CFTRc.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
7g.117603664A=CA1737375034CFTRc.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=)
7g.117603664A>CCA457227974CFTRc.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
7g.117603664A>GCA164960202CFTRc.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
7g.117603664A>TCA457227975CFTRc.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=)
7g.117603665T>ACA368986857CFTRc.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)
7g.117603665T>CCA368986859CFTRc.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)
7g.117603665T>GCA368986863CFTRc.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)
7g.117603666T>ACA368986866CFTRc.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)
7g.117603666T>CCA368986867CFTRc.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)
7g.117603666T>GCA368986869CFTRc.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)
7g.117603667C>ACA368986870CFTRc.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)
7g.117603667C=CA1737375038CFTRc.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=)
7g.117603667C>GCA368986872CFTRc.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
7g.117603667C>TCA457227976CFTRc.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
7g.117603668T>ACA368986874CFTRc.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)
7g.117603668T>CCA368986875CFTRc.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)
7g.117603668T>GCA368986877CFTRc.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)
7g.117603669T>ACA368986884CFTRc.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)
7g.117603669T>CCA368986881CFTRc.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)
7g.117603669T>GCA368986880CFTRc.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)
7g.117603670C>ACA368986887CFTRc.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)
7g.117603670C>GCA368986888CFTRc.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)
7g.117603670C>TCA457227977CFTRc.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=)
7g.117603671A=CA1737375047CFTRc.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=)
7g.117603671A>CCA457227978CFTRc.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=)
7g.117603671A>GCA326927CFTRc.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
7g.117603671A>TCA368986890CFTRc.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)
7g.117603672G>ACA368986894CFTRc.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)
7g.117603672G>CCA368986898CFTRc.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)
7g.117603672G>TCA368986900CFTRc.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)
7g.117603673A=CA1737375055CFTRc.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=)
7g.117603673A>CCA368986904CFTRc.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)
7g.117603673A>GCA457227979CFTRc.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=)
7g.117603673A>TCA326929CFTRc.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
7g.117603674G>ACA4451288CFTRc.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
7g.117603674G>CCA368986913CFTRc.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)
7g.117603674G=CA1737375063CFTRc.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=)
7g.117603674G>TCA368986915CFTRc.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)
7g.117603677_117603687delCA2695208421CFTRc.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?)
7g.117603675G>ACA368986918CFTRc.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)
7g.117603675G>CCA368986924CFTRc.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)
7g.117603675G=CA1737375068CFTRc.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=)
7g.117603675G>TCA368986921CFTRc.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
7g.117603676T>ACA457227980CFTRc.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=)
7g.117603676T>CCA457227982CFTRc.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
7g.117603676T>GCA457227981CFTRc.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=)
7g.117603677C>ACA368986928CFTRc.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)
7g.117603677C>GCA368986931CFTRc.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)
7g.117603677C>TCA457227983CFTRc.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=)
7g.117603678T>ACA368986935CFTRc.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)
7g.117603678T>CCA368986943CFTRc.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)
7g.117603678T>GCA368986939CFTRc.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)
7g.117603678_117603684delinsTACCACTCA1737375071CFTRc.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=)
7g.117603679delCA2684587830CFTRc.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
7g.117603679A=CA1737375080CFTRc.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=)
7g.117603679A>CCA457227984CFTRc.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=)
7g.117603679A>GCA4451289CFTRc.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
7g.117603679A>TCA457227985CFTRc.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=)
7g.117603679_117603680delinsACCA1737375077CFTRc.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=)
7g.117603679_117603684delinsTCAGACA645509184CFTRc.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
7g.117603680C>ACA4451290CFTRc.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
7g.117603680C=CA1737375091CFTRc.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=)
7g.117603680C>GCA368986952CFTRc.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)
7g.117603680C>TCA368986956CFTRc.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
7g.117603681delCA577680774CFTRc.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
7g.117603681C>ACA368986966CFTRc.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)
7g.117603681C=CA1737375101CFTRc.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=)
7g.117603681C>GCA368986971CFTRc.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)
7g.117603681C>TCA368986969CFTRc.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
7g.117603682A=CA1737375109CFTRc.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=)
7g.117603682A>CCA457227986CFTRc.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=)
7g.117603682A>GCA326931CFTRc.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
7g.117603682A>TCA457227987CFTRc.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=)
7g.117603683C>ACA368986978CFTRc.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)
7g.117603683C=CA1737375113CFTRc.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=)
7g.117603683C>GCA368986976CFTRc.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
7g.117603683C>TCA457227988CFTRc.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=)
7g.117603683_117603686delinsCTGGCA1737375114CFTRc.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=)
7g.117603684T>ACA368986985CFTRc.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
7g.117603684T>CCA368986980CFTRc.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
7g.117603684T>GCA368986984CFTRc.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)
7g.117603684T=CA1737375131CFTRc.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=)
7g.117603684dupCA260224CFTRc.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
7g.117603686_117603688delCA577680775CFTRc.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
7g.117603685G>ACA457227989CFTRc.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=)
7g.117603685G>CCA457227990CFTRc.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=)
7g.117603685G>TCA457227991CFTRc.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
7g.117603686dupCA913190198CFTRc.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
7g.117603686G>ACA164960239CFTRc.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
7g.117603686G>CCA4451291CFTRc.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
7g.117603686G=CA1737375160CFTRc.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=)
7g.117603686G>TCA4451292CFTRc.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
7g.117603687T>ACA368986997CFTRc.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)
7g.117603687T>CCA368987000CFTRc.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)
7g.117603687T>GCA260225CFTRc.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
7g.117603687T=CA1737375168CFTRc.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=)
7g.117603688G>ACA457227993CFTRc.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=)
7g.117603688G>CCA457227994CFTRc.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=)
7g.117603688G>TCA457227995CFTRc.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=)
7g.117603689C>ACA368987005CFTRc.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)
7g.117603689C=CA1737375185CFTRc.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=)
7g.117603689C>GCA326933CFTRc.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
7g.117603689C>TCA368987010CFTRc.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)
7g.117603690A=CA1737375199CFTRc.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=)
7g.117603690A>CCA368987019CFTRc.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)
7g.117603690A>GCA326935CFTRc.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
7g.[117603690A>G;117603720A>T]CA2499306165CFTRc.[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])
 ClinVar
7g.117603690A>TCA368987014CFTRc.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)
7g.117603690_117603691delinsCCA2695208422CFTRc.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)
7g.117603691T>ACA4451293CFTRc.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
7g.117603691T>CCA457227996CFTRc.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
7g.117603691T>GCA368987025CFTRc.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)
7g.117603691T=CA1737375202CFTRc.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=)
7g.117603693_117603697delCA2580617448CFTRc.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
7g.117603692_117603705delCA2697557581CFTRc.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
7g.117603692A>CCA368987028CFTRc.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)
7g.117603692A>GCA368987030CFTRc.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
7g.117603692A>TCA368987034CFTRc.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)
7g.117603692dupCA2580614240CFTRc.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
7g.117603693C>ACA368987037CFTRc.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)
7g.117603693C=CA1737375205CFTRc.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=)
7g.117603693C>GCA368987041CFTRc.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)
7g.117603693C>TCA4451294CFTRc.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
7g.117603695_117603696delCA913111890CFTRc.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?)
7g.117603694T>ACA457227997CFTRc.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=)
7g.117603694T>CCA457227998CFTRc.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
7g.117603694T>GCA221016CFTRc.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
7g.117603694T=CA1737375216CFTRc.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=)
7g.117603695C>ACA368987049CFTRc.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)
7g.117603695C>GCA368987052CFTRc.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
7g.117603695C>TCA457227999CFTRc.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=)
7g.117603695_117603696delinsCTCA1737375218CFTRc.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=)
7g.117603696delCA4451295CFTRc.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
7g.117603696T>ACA368987061CFTRc.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)
7g.117603696T>CCA368987063CFTRc.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
7g.117603696T>GCA368987058CFTRc.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)
7g.117603696T=CA1737375226CFTRc.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=)
7g.117603697A>CCA457228002CFTRc.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=)
7g.117603697A>GCA457228000CFTRc.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=)
7g.117603697A>TCA457228001CFTRc.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=)
7g.117603698delCA2580076358CFTRc.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
7g.117603698A=CA1737375231CFTRc.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=)
7g.117603698A>CCA368987066CFTRc.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)
7g.117603698A>GCA368987068CFTRc.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
7g.117603698A>TCA368987071CFTRc.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)
7g.117603698_117603699delinsATCA1737375230CFTRc.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=)
7g.117603699delCA326937CFTRc.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
7g.117603699T>ACA368987077CFTRc.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)
7g.117603699T>CCA368987079CFTRc.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)
7g.117603699T>GCA368987083CFTRc.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)
7g.117603700C>ACA457228003CFTRc.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=)
7g.117603700C=CA1737375238CFTRc.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=)
7g.117603700C>GCA368987088CFTRc.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)
7g.117603700C>TCA457228004CFTRc.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
7g.117603701A>CCA368987091CFTRc.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)
7g.117603701A>GCA368987094CFTRc.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
7g.117603701A>TCA368987095CFTRc.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)
7g.117603702delCA2695199622CFTRc.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
7g.117603702C>ACA368987100CFTRc.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)
7g.117603702C>GCA368987103CFTRc.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)
7g.117603702C>TCA368987099CFTRc.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)
7g.117603703A>CCA457228005CFTRc.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=)
7g.117603703A>GCA457228006CFTRc.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=)
7g.117603703A>TCA457228007CFTRc.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=)
7g.117603704G>ACA368987108CFTRc.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)
7g.117603704G>CCA368987109CFTRc.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
7g.117603704G>TCA368987114CFTRc.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)
7g.117603705T>ACA368987119CFTRc.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)
7g.117603705T>CCA164960286CFTRc.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
7g.117603705T>GCA368987124CFTRc.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
7g.117603705T=CA1737375248CFTRc.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=)
7g.117603706G>ACA260227CFTRc.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
7g.117603706G>CCA457228008CFTRc.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=)
7g.117603706G=CA1737375268CFTRc.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=)
7g.117603706G>TCA4451296CFTRc.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
7g.117603707T>ACA368987133CFTRc.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)
7g.117603707T>CCA368987138CFTRc.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)
7g.117603707T>GCA368987141CFTRc.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)
7g.117603708C>ACA368987143CFTRc.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
7g.117603708C=CA1737375279CFTRc.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=)
7g.117603708C>GCA368987148CFTRc.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)
7g.117603708C>TCA345314CFTRc.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
7g.117603709delCA2684587831CFTRc.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
7g.117603709G>ACA260229CFTRc.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
7g.117603709G>CCA457228010CFTRc.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=)
7g.117603709G=CA1737375294CFTRc.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=)
7g.117603709G>TCA457228009CFTRc.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
7g.117603710A=CA1737375297CFTRc.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=)
7g.117603710A>CCA368987159CFTRc.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
7g.117603710A>GCA368987156CFTRc.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
7g.117603710A>TCA326938CFTRc.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
7g.117603711A=CA1737375307CFTRc.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=)
7g.117603711A>CCA368987166CFTRc.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)
7g.117603711A>GCA368987169CFTRc.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)
7g.117603711A>TCA368987171CFTRc.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
7g.117603712A>CCA368987174CFTRc.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
7g.117603712A>GCA457228011CFTRc.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
7g.117603712A>TCA368987176CFTRc.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)
7g.117603713A>CCA368987179CFTRc.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)
7g.117603713A>GCA368987182CFTRc.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)
7g.117603713A>TCA368987184CFTRc.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)
7g.117603714T>ACA368987188CFTRc.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)
7g.117603714T>CCA4451297CFTRc.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
7g.117603714T>GCA368987193CFTRc.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)
 COSMIC
7g.117603714T=CA1737375310CFTRc.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=)
7g.117603715T>ACA457228013CFTRc.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=)
7g.117603715T>CCA457228014CFTRc.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=)
7g.117603715T>GCA368987195CFTRc.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)
7g.117603716T>ACA368987199CFTRc.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)
7g.117603716T>CCA457228015CFTRc.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
7g.117603716T>GCA368987203CFTRc.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
7g.117603717T>ACA368987205CFTRc.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)
7g.117603717T>CCA164960312CFTRc.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)
 dbSNP
7g.117603717T>GCA368987209CFTRc.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)
7g.117603717T=CA1737375313CFTRc.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=)
7g.117603718A=CA1737375319CFTRc.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=)
7g.117603718A>CCA368987213CFTRc.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
7g.117603718A>GCA457228016CFTRc.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
7g.117603718A>TCA368987215CFTRc.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
7g.117603719C>ACA368987219CFTRc.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)
7g.117603719C=CA1737375325CFTRc.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=)
7g.117603719C>GCA368987220CFTRc.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)
7g.117603719C>TCA325595CFTRc.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
7g.117603720A=CA1737375341CFTRc.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=)
7g.117603720A>CCA368987228CFTRc.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)
7g.117603720A>GCA326940CFTRc.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
7g.117603720A>TCA326942CFTRc.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
7g.117603721C>ACA368987239CFTRc.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
7g.117603721C=CA1737375350CFTRc.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=)
7g.117603721C>GCA368987241CFTRc.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
7g.117603721C>TCA4451298CFTRc.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
7g.117603722delCA2573052804CFTRc.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
7g.117603722C>ACA368987244CFTRc.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)
7g.117603722C>GCA368987248CFTRc.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)
7g.117603722C>TCA368987253CFTRc.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
7g.117603722_117603723insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAACA2684587832CFTRc.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
7g.117603723A=CA1737375354CFTRc.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=)
7g.117603723A>CCA368987256CFTRc.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)
7g.117603723A>GCA368987258CFTRc.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
7g.117603723A>TCA368987261CFTRc.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)
7g.117603724C>ACA368987267CFTRc.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)
7g.117603724C>GCA368987265CFTRc.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
7g.117603724C>TCA457228017CFTRc.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
7g.117603724_117603725delinsCACA1737375359CFTRc.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=)
7g.117603725A=CA1737375370CFTRc.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=)
7g.117603725A>CCA368987268CFTRc.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
7g.117603725A>GCA4451299CFTRc.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
7g.117603725A>TCA368987269CFTRc.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
7g.117603728delCA16041134CFTRc.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
7g.117603726A=CA1737375376CFTRc.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=)
7g.117603726A>CCA368987275CFTRc.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
7g.117603726A>GCA368987296CFTRc.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)
7g.117603726A>TCA368987298CFTRc.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)
7g.117603727A>CCA368987302CFTRc.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)
7g.117603727A>GCA457228018CFTRc.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=)
7g.117603727A>TCA368987304CFTRc.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)
7g.117603727_117603728insCCAAACACACCCAACACCA2777586095CFTRc.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)
7g.117603727_117603728insCCCCCAAACACACCCAACACCA2777586099CFTRc.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)
7g.117603728A>CCA368987309CFTRc.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)
7g.117603728A>GCA368987312CFTRc.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
7g.117603728A>TCA368987317CFTRc.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)
7g.117603729T>ACA368987320CFTRc.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)
7g.117603729T>CCA326944CFTRc.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
7g.117603729T>GCA368987324CFTRc.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
7g.117603729T=CA1737375381CFTRc.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=)
7g.117603730G>ACA4451300CFTRc.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
7g.117603730G>CCA326946CFTRc.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
7g.117603730G=CA1737375395CFTRc.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=)
7g.117603730G>TCA368987334CFTRc.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
7g.117603731T>ACA368987336CFTRc.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)
7g.117603731T>CCA457228019CFTRc.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=)
7g.117603731T>GCA368987340CFTRc.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)
7g.117603732T>ACA368987350CFTRc.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)
7g.117603732T>CCA368987346CFTRc.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)
7g.117603732T>GCA368987343CFTRc.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)
7g.117603732_117603764delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCCCA1737375406CFTRc.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=)
7g.117603733A=CA1737375423CFTRc.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=)
7g.117603733A>CCA368987354CFTRc.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)
7g.117603733A>GCA4451301CFTRc.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
7g.117603733A>TCA368987360CFTRc.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)
7g.117603733_117603764delCA326947CFTRc.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
7g.117603733_117603767delinsTCAAGCA2580617913CFTRc.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
7g.117603734C>ACA368987367CFTRc.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)
7g.117603734C=CA1737375431CFTRc.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=)
7g.117603734C>GCA368987363CFTRc.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)
7g.117603734C>TCA4451302CFTRc.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
7g.117603735A=CA1737375437CFTRc.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=)
7g.117603735A>CCA326948CFTRc.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
7g.117603735A>GCA368987372CFTRc.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
7g.117603735A>TCA368987375CFTRc.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)
7g.117603736T>ACA368987379CFTRc.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)
7g.117603736T>CCA457228020CFTRc.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=)
7g.117603736T>GCA368987382CFTRc.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)
7g.117603737T>ACA368987386CFTRc.2863T>A (p.Ser955Thr)
c.*2577T>A (n.*2577T>A)
c.2680T>A (p.Ser894Thr)
c.*1163T>A (n.*1163T>A)
c.*2687T>A (n.*2687T>A)
c.2437T>A (p.Ser813Thr)
c.454T>A (p.Ser152Thr)
c.513T>A
c.1645T>A (p.Ser549Thr)
c.2773T>A (p.Ser925Thr)
c.2953T>A (p.Ser985Thr)
c.2620T>A (p.Ser874Thr)
7g.117603737T>CCA368987389CFTRc.2863T>C (p.Ser955Pro)
c.*2577T>C (n.*2577T>C)
c.2680T>C (p.Ser894Pro)
c.*1163T>C (n.*1163T>C)
c.*2687T>C (n.*2687T>C)
c.2437T>C (p.Ser813Pro)
c.454T>C (p.Ser152Pro)
c.513T>C
c.1645T>C (p.Ser549Pro)
c.2773T>C (p.Ser925Pro)
c.2953T>C (p.Ser985Pro)
c.2620T>C (p.Ser874Pro)
7g.117603737T>GCA368987390CFTRc.2863T>G (p.Ser955Ala)
c.*2577T>G (n.*2577T>G)
c.2680T>G (p.Ser894Ala)
c.*1163T>G (n.*1163T>G)
c.*2687T>G (n.*2687T>G)
c.2437T>G (p.Ser813Ala)
c.454T>G (p.Ser152Ala)
c.513T>G
c.1645T>G (p.Ser549Ala)
c.2773T>G (p.Ser925Ala)
c.2953T>G (p.Ser985Ala)
c.2620T>G (p.Ser874Ala)
 ClinVar dbSNP
7g.117603737T=CA1737375447CFTRc.2863T= (p.Ser955=)
c.*2577T= (n.*2577T=)
c.2680T= (p.Ser894=)
c.*1163T= (n.*1163T=)
c.*2687T= (n.*2687T=)
c.2437T= (p.Ser813=)
c.454T= (p.Ser152=)
c.513T=
c.1645T= (p.Ser549=)
c.2773T= (p.Ser925=)
c.2953T= (p.Ser985=)
c.2620T= (p.Ser874=)
7g.117603738C>ACA368987394CFTRc.2864C>A (p.Ser955Tyr)
c.*2578C>A (n.*2578C>A)
c.2681C>A (p.Ser894Tyr)
c.*1164C>A (n.*1164C>A)
c.*2688C>A (n.*2688C>A)
c.2438C>A (p.Ser813Tyr)
c.455C>A (p.Ser152Tyr)
c.514C>A
c.1646C>A (p.Ser549Tyr)
c.2774C>A (p.Ser925Tyr)
c.2954C>A (p.Ser985Tyr)
c.2621C>A (p.Ser874Tyr)
7g.117603738C>GCA368987393CFTRc.2864C>G (p.Ser955Cys)
c.*2578C>G (n.*2578C>G)
c.2681C>G (p.Ser894Cys)
c.*1164C>G (n.*1164C>G)
c.*2688C>G (n.*2688C>G)
c.2438C>G (p.Ser813Cys)
c.455C>G (p.Ser152Cys)
c.514C>G
c.1646C>G (p.Ser549Cys)
c.2774C>G (p.Ser925Cys)
c.2954C>G (p.Ser985Cys)
c.2621C>G (p.Ser874Cys)
7g.117603738C>TCA368987391CFTRc.2864C>T (p.Ser955Phe)
c.*2578C>T (n.*2578C>T)
c.2681C>T (p.Ser894Phe)
c.*1164C>T (n.*1164C>T)
c.*2688C>T (n.*2688C>T)
c.2438C>T (p.Ser813Phe)
c.455C>T (p.Ser152Phe)
c.514C>T
c.1646C>T (p.Ser549Phe)
c.2774C>T (p.Ser925Phe)
c.2954C>T (p.Ser985Phe)
c.2621C>T (p.Ser874Phe)
 gnomAD v4
7g.117603739T>ACA457228021CFTRc.2865T>A (p.Ser955=)
c.*2579T>A (n.*2579T>A)
c.2682T>A (p.Ser894=)
c.*1165T>A (n.*1165T>A)
c.*2689T>A (n.*2689T>A)
c.2439T>A (p.Ser813=)
c.456T>A (p.Ser152=)
c.515T>A
c.1647T>A (p.Ser549=)
c.2775T>A (p.Ser925=)
c.2955T>A (p.Ser985=)
c.2622T>A (p.Ser874=)
7g.117603739T>CCA457228022CFTRc.2865T>C (p.Ser955=)
c.*2579T>C (n.*2579T>C)
c.2682T>C (p.Ser894=)
c.*1165T>C (n.*1165T>C)
c.*2689T>C (n.*2689T>C)
c.2439T>C (p.Ser813=)
c.456T>C (p.Ser152=)
c.515T>C
c.1647T>C (p.Ser549=)
c.2775T>C (p.Ser925=)
c.2955T>C (p.Ser985=)
c.2622T>C (p.Ser874=)
 gnomAD v4
7g.117603739T>GCA457228023CFTRc.2865T>G (p.Ser955=)
c.*2579T>G (n.*2579T>G)
c.2682T>G (p.Ser894=)
c.*1165T>G (n.*1165T>G)
c.*2689T>G (n.*2689T>G)
c.2439T>G (p.Ser813=)
c.456T>G (p.Ser152=)
c.515T>G
c.1647T>G (p.Ser549=)
c.2775T>G (p.Ser925=)
c.2955T>G (p.Ser985=)
c.2622T>G (p.Ser874=)
 gnomAD v4
7g.117603740G>ACA368987397CFTRc.2866G>A (p.Val956Ile)
c.*2580G>A (n.*2580G>A)
c.2683G>A (p.Val895Ile)
c.*1166G>A (n.*1166G>A)
c.*2690G>A (n.*2690G>A)
c.2440G>A (p.Val814Ile)
c.457G>A (p.Val153Ile)
c.516G>A
c.1648G>A (p.Val550Ile)
c.2776G>A (p.Val926Ile)
c.2956G>A (p.Val986Ile)
c.2623G>A (p.Val875Ile)
7g.117603740G>CCA4451303CFTRc.2866G>C (p.Val956Leu)
c.*2580G>C (n.*2580G>C)
c.2683G>C (p.Val895Leu)
c.*1166G>C (n.*1166G>C)
c.*2690G>C (n.*2690G>C)
c.2440G>C (p.Val814Leu)
c.457G>C (p.Val153Leu)
c.516G>C
c.1648G>C (p.Val550Leu)
c.2776G>C (p.Val926Leu)
c.2956G>C (p.Val986Leu)
c.2623G>C (p.Val875Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603740G=CA1737375451CFTRc.2866G= (p.Val956=)
c.*2580G= (n.*2580G=)
c.2683G= (p.Val895=)
c.*1166G= (n.*1166G=)
c.*2690G= (n.*2690G=)
c.2440G= (p.Val814=)
c.457G= (p.Val153=)
c.516G=
c.1648G= (p.Val550=)
c.2776G= (p.Val926=)
c.2956G= (p.Val986=)
c.2623G= (p.Val875=)
7g.117603740G>TCA368987399CFTRc.2866G>T (p.Val956Phe)
c.*2580G>T (n.*2580G>T)
c.2683G>T (p.Val895Phe)
c.*1166G>T (n.*1166G>T)
c.*2690G>T (n.*2690G>T)
c.2440G>T (p.Val814Phe)
c.457G>T (p.Val153Phe)
c.516G>T
c.1648G>T (p.Val550Phe)
c.2776G>T (p.Val926Phe)
c.2956G>T (p.Val986Phe)
c.2623G>T (p.Val875Phe)

Number of alleles fetched