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.117603633T>ACA368986675CFTRc.2759T>A (p.Val920Glu)
c.*2473T>A (n.*2473T>A)
c.2576T>A (p.Val859Glu)
c.*1059T>A (n.*1059T>A)
c.*2583T>A (n.*2583T>A)
c.2333T>A (p.Val778Glu)
c.350T>A (p.Val117Glu)
c.409T>A
c.1541T>A (p.Val514Glu)
c.2669T>A (p.Val890Glu)
c.2849T>A (p.Val950Glu)
c.2516T>A (p.Val839Glu)
7g.117603633T>CCA368986677CFTRc.2759T>C (p.Val920Ala)
c.*2473T>C (n.*2473T>C)
c.2576T>C (p.Val859Ala)
c.*1059T>C (n.*1059T>C)
c.*2583T>C (n.*2583T>C)
c.2333T>C (p.Val778Ala)
c.350T>C (p.Val117Ala)
c.409T>C
c.1541T>C (p.Val514Ala)
c.2669T>C (p.Val890Ala)
c.2849T>C (p.Val950Ala)
c.2516T>C (p.Val839Ala)
7g.117603633T>GCA368986679CFTRc.2759T>G (p.Val920Gly)
c.*2473T>G (n.*2473T>G)
c.2576T>G (p.Val859Gly)
c.*1059T>G (n.*1059T>G)
c.*2583T>G (n.*2583T>G)
c.2333T>G (p.Val778Gly)
c.350T>G (p.Val117Gly)
c.409T>G
c.1541T>G (p.Val514Gly)
c.2669T>G (p.Val890Gly)
c.2849T>G (p.Val950Gly)
c.2516T>G (p.Val839Gly)
dbSNP
7g.117603633T=CA1737374873CFTRc.2759T= (p.Val920=)
c.*2473T= (n.*2473T=)
c.2576T= (p.Val859=)
c.*1059T= (n.*1059T=)
c.*2583T= (n.*2583T=)
c.2333T= (p.Val778=)
c.350T= (p.Val117=)
c.409T=
c.1541T= (p.Val514=)
c.2669T= (p.Val890=)
c.2849T= (p.Val950=)
c.2516T= (p.Val839=)
7g.117603633_117603634delinsTGCA1737374874CFTRc.2759_2760delinsTG (p.Val920=)
c.*2473_*2474delinsTG (n.*2473_*2474delinsTG)
c.2576_2577delinsTG (p.Val859=)
c.*1059_*1060delinsTG (n.*1059_*1060delinsTG)
c.*2583_*2584delinsTG (n.*2583_*2584delinsTG)
c.2333_2334delinsTG (p.Val778=)
c.350_351delinsTG (p.Val117=)
c.409_410delinsTG
c.1541_1542delinsTG (p.Val514=)
c.2669_2670delinsTG (p.Val890=)
c.2849_2850delinsTG (p.Val950=)
c.2516_2517delinsTG (p.Val839=)
7g.117603634G>ACA457227952CFTRc.2760G>A (p.Val920=)
c.*2474G>A (n.*2474G>A)
c.2577G>A (p.Val859=)
c.*1060G>A (n.*1060G>A)
c.*2584G>A (n.*2584G>A)
c.2334G>A (p.Val778=)
c.351G>A (p.Val117=)
c.410G>A
c.1542G>A (p.Val514=)
c.2670G>A (p.Val890=)
c.2850G>A (p.Val950=)
c.2517G>A (p.Val839=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603634G>CCA457227953CFTRc.2760G>C (p.Val920=)
c.*2474G>C (n.*2474G>C)
c.2577G>C (p.Val859=)
c.*1060G>C (n.*1060G>C)
c.*2584G>C (n.*2584G>C)
c.2334G>C (p.Val778=)
c.351G>C (p.Val117=)
c.410G>C
c.1542G>C (p.Val514=)
c.2670G>C (p.Val890=)
c.2850G>C (p.Val950=)
c.2517G>C (p.Val839=)
7g.117603634G=CA1737374882CFTRc.2760G= (p.Val920=)
c.*2474G= (n.*2474G=)
c.2577G= (p.Val859=)
c.*1060G= (n.*1060G=)
c.*2584G= (n.*2584G=)
c.2334G= (p.Val778=)
c.351G= (p.Val117=)
c.410G=
c.1542G= (p.Val514=)
c.2670G= (p.Val890=)
c.2850G= (p.Val950=)
c.2517G= (p.Val839=)
7g.117603634G>TCA457227954CFTRc.2760G>T (p.Val920=)
c.*2474G>T (n.*2474G>T)
c.2577G>T (p.Val859=)
c.*1060G>T (n.*1060G>T)
c.*2584G>T (n.*2584G>T)
c.2334G>T (p.Val778=)
c.351G>T (p.Val117=)
c.410G>T
c.1542G>T (p.Val514=)
c.2670G>T (p.Val890=)
c.2850G>T (p.Val950=)
c.2517G>T (p.Val839=)
7g.117603636dupCA1737374883CFTRc.2762dup (p.Val922SerfsTer?)
c.*2476dup (n.*2476dup)
c.2579dup (p.Val861SerfsTer?)
c.*1062dup (n.*1062dup)
c.*2586dup (n.*2586dup)
c.2336dup (p.Val780SerfsTer?)
c.353dup (p.Val119SerfsTer?)
c.412dup
c.1544dup (p.Val516SerfsTer?)
c.2672dup (p.Val892SerfsTer?)
c.2852dup (p.Val952SerfsTer?)
c.2519dup (p.Val841SerfsTer?)
dbSNP
7g.117603636delCA4451283CFTRc.2762del (p.Gly921GlufsTer2)
c.*2476del (n.*2476del)
c.2579del (p.Gly860GlufsTer2)
c.*1062del (n.*1062del)
c.*2586del (n.*2586del)
c.2336del (p.Gly779GlufsTer2)
c.353del (p.Gly118GlufsTer2)
c.412del
c.1544del (p.Gly515GlufsTer2)
c.2672del (p.Gly891GlufsTer2)
c.2852del (p.Gly951GlufsTer2)
c.2519del (p.Gly840GlufsTer2)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603635G>ACA4451284CFTRc.2761G>A (p.Gly921Arg)
c.*2475G>A (n.*2475G>A)
c.2578G>A (p.Gly860Arg)
c.*1061G>A (n.*1061G>A)
c.*2585G>A (n.*2585G>A)
c.2335G>A (p.Gly779Arg)
c.352G>A (p.Gly118Arg)
c.411G>A
c.1543G>A (p.Gly515Arg)
c.2671G>A (p.Gly891Arg)
c.2851G>A (p.Gly951Arg)
c.2518G>A (p.Gly840Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603635G>CCA368986680CFTRc.2761G>C (p.Gly921Arg)
c.*2475G>C (n.*2475G>C)
c.2578G>C (p.Gly860Arg)
c.*1061G>C (n.*1061G>C)
c.*2585G>C (n.*2585G>C)
c.2335G>C (p.Gly779Arg)
c.352G>C (p.Gly118Arg)
c.411G>C
c.1543G>C (p.Gly515Arg)
c.2671G>C (p.Gly891Arg)
c.2851G>C (p.Gly951Arg)
c.2518G>C (p.Gly840Arg)
7g.117603635G=CA1737374888CFTRc.2761G= (p.Gly921=)
c.*2475G= (n.*2475G=)
c.2578G= (p.Gly860=)
c.*1061G= (n.*1061G=)
c.*2585G= (n.*2585G=)
c.2335G= (p.Gly779=)
c.352G= (p.Gly118=)
c.411G=
c.1543G= (p.Gly515=)
c.2671G= (p.Gly891=)
c.2851G= (p.Gly951=)
c.2518G= (p.Gly840=)
7g.117603635G>TCA368986681CFTRc.2761G>T (p.Gly921Ter)
c.*2475G>T (n.*2475G>T)
c.2578G>T (p.Gly860Ter)
c.*1061G>T (n.*1061G>T)
c.*2585G>T (n.*2585G>T)
c.2335G>T (p.Gly779Ter)
c.352G>T (p.Gly118Ter)
c.411G>T
c.1543G>T (p.Gly515Ter)
c.2671G>T (p.Gly891Ter)
c.2851G>T (p.Gly951Ter)
c.2518G>T (p.Gly840Ter)
7g.117603636G>ACA260220CFTRc.2762G>A (p.Gly921Glu)
c.*2476G>A (n.*2476G>A)
c.2579G>A (p.Gly860Glu)
c.*1062G>A (n.*1062G>A)
c.*2586G>A (n.*2586G>A)
c.2336G>A (p.Gly779Glu)
c.353G>A (p.Gly118Glu)
c.412G>A
c.1544G>A (p.Gly515Glu)
c.2672G>A (p.Gly891Glu)
c.2852G>A (p.Gly951Glu)
c.2519G>A (p.Gly840Glu)
ClinVar dbSNP gnomAD v2 COSMIC
7g.117603636G>CCA368986682CFTRc.2762G>C (p.Gly921Ala)
c.*2476G>C (n.*2476G>C)
c.2579G>C (p.Gly860Ala)
c.*1062G>C (n.*1062G>C)
c.*2586G>C (n.*2586G>C)
c.2336G>C (p.Gly779Ala)
c.353G>C (p.Gly118Ala)
c.412G>C
c.1544G>C (p.Gly515Ala)
c.2672G>C (p.Gly891Ala)
c.2852G>C (p.Gly951Ala)
c.2519G>C (p.Gly840Ala)
gnomAD v4
7g.117603636G=CA1737374898CFTRc.2762G= (p.Gly921=)
c.*2476G= (n.*2476G=)
c.2579G= (p.Gly860=)
c.*1062G= (n.*1062G=)
c.*2586G= (n.*2586G=)
c.2336G= (p.Gly779=)
c.353G= (p.Gly118=)
c.412G=
c.1544G= (p.Gly515=)
c.2672G= (p.Gly891=)
c.2852G= (p.Gly951=)
c.2519G= (p.Gly840=)
7g.117603636G>TCA368986685CFTRc.2762G>T (p.Gly921Val)
c.*2476G>T (n.*2476G>T)
c.2579G>T (p.Gly860Val)
c.*1062G>T (n.*1062G>T)
c.*2586G>T (n.*2586G>T)
c.2336G>T (p.Gly779Val)
c.353G>T (p.Gly118Val)
c.412G>T
c.1544G>T (p.Gly515Val)
c.2672G>T (p.Gly891Val)
c.2852G>T (p.Gly951Val)
c.2519G>T (p.Gly840Val)
ClinVar dbSNP
7g.117603637_117603638dupCA326920CFTRc.2763_2764dup (p.Val922GlufsTer2)
c.*2477_*2478dup (n.*2477_*2478dup)
c.2580_2581dup (p.Val861GlufsTer2)
c.*1063_*1064dup (n.*1063_*1064dup)
c.*2587_*2588dup (n.*2587_*2588dup)
c.2337_2338dup (p.Val780GlufsTer2)
c.354_355dup (p.Val119GlufsTer2)
c.413_414dup
c.1545_1546dup (p.Val516GlufsTer2)
c.2673_2674dup (p.Val892GlufsTer2)
c.2853_2854dup (p.Val952GlufsTer2)
c.2520_2521dup (p.Val841GlufsTer2)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603637A>CCA457227955CFTRc.2763A>C (p.Gly921=)
c.*2477A>C (n.*2477A>C)
c.2580A>C (p.Gly860=)
c.*1063A>C (n.*1063A>C)
c.*2587A>C (n.*2587A>C)
c.2337A>C (p.Gly779=)
c.354A>C (p.Gly118=)
c.413A>C
c.1545A>C (p.Gly515=)
c.2673A>C (p.Gly891=)
c.2853A>C (p.Gly951=)
c.2520A>C (p.Gly840=)
7g.117603637A>GCA457227956CFTRc.2763A>G (p.Gly921=)
c.*2477A>G (n.*2477A>G)
c.2580A>G (p.Gly860=)
c.*1063A>G (n.*1063A>G)
c.*2587A>G (n.*2587A>G)
c.2337A>G (p.Gly779=)
c.354A>G (p.Gly118=)
c.413A>G
c.1545A>G (p.Gly515=)
c.2673A>G (p.Gly891=)
c.2853A>G (p.Gly951=)
c.2520A>G (p.Gly840=)
7g.117603637A>TCA457227957CFTRc.2763A>T (p.Gly921=)
c.*2477A>T (n.*2477A>T)
c.2580A>T (p.Gly860=)
c.*1063A>T (n.*1063A>T)
c.*2587A>T (n.*2587A>T)
c.2337A>T (p.Gly779=)
c.354A>T (p.Gly118=)
c.413A>T
c.1545A>T (p.Gly515=)
c.2673A>T (p.Gly891=)
c.2853A>T (p.Gly951=)
c.2520A>T (p.Gly840=)
7g.117603638G>ACA368986694CFTRc.2764G>A (p.Val922Ile)
c.*2478G>A (n.*2478G>A)
c.2581G>A (p.Val861Ile)
c.*1064G>A (n.*1064G>A)
c.*2588G>A (n.*2588G>A)
c.2338G>A (p.Val780Ile)
c.355G>A (p.Val119Ile)
c.414G>A
c.1546G>A (p.Val516Ile)
c.2674G>A (p.Val892Ile)
c.2854G>A (p.Val952Ile)
c.2521G>A (p.Val841Ile)
ClinVar dbSNP COSMIC
7g.117603638G>CCA368986689CFTRc.2764G>C (p.Val922Leu)
c.*2478G>C (n.*2478G>C)
c.2581G>C (p.Val861Leu)
c.*1064G>C (n.*1064G>C)
c.*2588G>C (n.*2588G>C)
c.2338G>C (p.Val780Leu)
c.355G>C (p.Val119Leu)
c.414G>C
c.1546G>C (p.Val516Leu)
c.2674G>C (p.Val892Leu)
c.2854G>C (p.Val952Leu)
c.2521G>C (p.Val841Leu)
ClinVar gnomAD v4
7g.117603638G=CA1737374900CFTRc.2764G= (p.Val922=)
c.*2478G= (n.*2478G=)
c.2581G= (p.Val861=)
c.*1064G= (n.*1064G=)
c.*2588G= (n.*2588G=)
c.2338G= (p.Val780=)
c.355G= (p.Val119=)
c.414G=
c.1546G= (p.Val516=)
c.2674G= (p.Val892=)
c.2854G= (p.Val952=)
c.2521G= (p.Val841=)
7g.117603638G>TCA368986692CFTRc.2764G>T (p.Val922Leu)
c.*2478G>T (n.*2478G>T)
c.2581G>T (p.Val861Leu)
c.*1064G>T (n.*1064G>T)
c.*2588G>T (n.*2588G>T)
c.2338G>T (p.Val780Leu)
c.355G>T (p.Val119Leu)
c.414G>T
c.1546G>T (p.Val516Leu)
c.2674G>T (p.Val892Leu)
c.2854G>T (p.Val952Leu)
c.2521G>T (p.Val841Leu)
7g.117603639T>ACA368986697CFTRc.2765T>A (p.Val922Glu)
c.*2479T>A (n.*2479T>A)
c.2582T>A (p.Val861Glu)
c.*1065T>A (n.*1065T>A)
c.*2589T>A (n.*2589T>A)
c.2339T>A (p.Val780Glu)
c.356T>A (p.Val119Glu)
c.415T>A
c.1547T>A (p.Val516Glu)
c.2675T>A (p.Val892Glu)
c.2855T>A (p.Val952Glu)
c.2522T>A (p.Val841Glu)
7g.117603639T>CCA368986699CFTRc.2765T>C (p.Val922Ala)
c.*2479T>C (n.*2479T>C)
c.2582T>C (p.Val861Ala)
c.*1065T>C (n.*1065T>C)
c.*2589T>C (n.*2589T>C)
c.2339T>C (p.Val780Ala)
c.356T>C (p.Val119Ala)
c.415T>C
c.1547T>C (p.Val516Ala)
c.2675T>C (p.Val892Ala)
c.2855T>C (p.Val952Ala)
c.2522T>C (p.Val841Ala)
7g.117603639T>GCA368986702CFTRc.2765T>G (p.Val922Gly)
c.*2479T>G (n.*2479T>G)
c.2582T>G (p.Val861Gly)
c.*1065T>G (n.*1065T>G)
c.*2589T>G (n.*2589T>G)
c.2339T>G (p.Val780Gly)
c.356T>G (p.Val119Gly)
c.415T>G
c.1547T>G (p.Val516Gly)
c.2675T>G (p.Val892Gly)
c.2855T>G (p.Val952Gly)
c.2522T>G (p.Val841Gly)
dbSNP gnomAD v2 gnomAD v4
7g.117603639T=CA1737374907CFTRc.2765T= (p.Val922=)
c.*2479T= (n.*2479T=)
c.2582T= (p.Val861=)
c.*1065T= (n.*1065T=)
c.*2589T= (n.*2589T=)
c.2339T= (p.Val780=)
c.356T= (p.Val119=)
c.415T=
c.1547T= (p.Val516=)
c.2675T= (p.Val892=)
c.2855T= (p.Val952=)
c.2522T= (p.Val841=)
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

Number of alleles fetched