| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117602152_117612006del | CA325806 | CFTR | c.2620-674_3367+198del c.*2334-674_*3081+198del c.2437-674_3184+198del c.*920-674_*1667+198del c.*2444-674_*3191+198del c.2194-674_2941+198del c.211-674_958+198del c.270-674_1017+198del c.1402-674_2149+198del c.2530-674_3277+198del c.2710-674_3457+198del c.2377-674_3124+198del | |
| 7 | g.117602152_117612040del | CA2499218685 | CFTR | c.2620-674_3367+232del c.*2334-674_*3081+232del c.2437-674_3184+232del c.*920-674_*1667+232del c.*2444-674_*3191+232del c.2194-674_2941+232del c.211-674_958+232del c.270-674_1017+232del c.1402-674_2149+232del c.2530-674_3277+232del c.2710-674_3457+232del c.2377-674_3124+232del | ClinVar |
| 7 | g.117603636dup | CA1737374883 | CFTR | c.2762dup (p.Val922SerfsTer?) c.*2476dup (n.*2476dup) c.2579dup (p.Val861SerfsTer?) c.*1062dup (n.*1062dup) c.*2586dup (n.*2586dup) c.2336dup (p.Val780SerfsTer?) c.353dup (p.Val119SerfsTer?) c.412dup c.1544dup (p.Val516SerfsTer?) c.2672dup (p.Val892SerfsTer?) c.2852dup (p.Val952SerfsTer?) c.2519dup (p.Val841SerfsTer?) | dbSNP |
| 7 | g.117603636del | CA4451283 | CFTR | c.2762del (p.Gly921GlufsTer2) c.*2476del (n.*2476del) c.2579del (p.Gly860GlufsTer2) c.*1062del (n.*1062del) c.*2586del (n.*2586del) c.2336del (p.Gly779GlufsTer2) c.353del (p.Gly118GlufsTer2) c.412del c.1544del (p.Gly515GlufsTer2) c.2672del (p.Gly891GlufsTer2) c.2852del (p.Gly951GlufsTer2) c.2519del (p.Gly840GlufsTer2) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603636G>A | CA260220 | CFTR | c.2762G>A (p.Gly921Glu) c.*2476G>A (n.*2476G>A) c.2579G>A (p.Gly860Glu) c.*1062G>A (n.*1062G>A) c.*2586G>A (n.*2586G>A) c.2336G>A (p.Gly779Glu) c.353G>A (p.Gly118Glu) c.412G>A c.1544G>A (p.Gly515Glu) c.2672G>A (p.Gly891Glu) c.2852G>A (p.Gly951Glu) c.2519G>A (p.Gly840Glu) | ClinVar dbSNP gnomAD v2 COSMIC |
| 7 | g.117603636G>C | CA368986682 | CFTR | c.2762G>C (p.Gly921Ala) c.*2476G>C (n.*2476G>C) c.2579G>C (p.Gly860Ala) c.*1062G>C (n.*1062G>C) c.*2586G>C (n.*2586G>C) c.2336G>C (p.Gly779Ala) c.353G>C (p.Gly118Ala) c.412G>C c.1544G>C (p.Gly515Ala) c.2672G>C (p.Gly891Ala) c.2852G>C (p.Gly951Ala) c.2519G>C (p.Gly840Ala) | gnomAD v4 |
| 7 | g.117603636G= | CA1737374898 | CFTR | c.2762G= (p.Gly921=) c.*2476G= (n.*2476G=) c.2579G= (p.Gly860=) c.*1062G= (n.*1062G=) c.*2586G= (n.*2586G=) c.2336G= (p.Gly779=) c.353G= (p.Gly118=) c.412G= c.1544G= (p.Gly515=) c.2672G= (p.Gly891=) c.2852G= (p.Gly951=) c.2519G= (p.Gly840=) | |
| 7 | g.117603636G>T | CA368986685 | CFTR | c.2762G>T (p.Gly921Val) c.*2476G>T (n.*2476G>T) c.2579G>T (p.Gly860Val) c.*1062G>T (n.*1062G>T) c.*2586G>T (n.*2586G>T) c.2336G>T (p.Gly779Val) c.353G>T (p.Gly118Val) c.412G>T c.1544G>T (p.Gly515Val) c.2672G>T (p.Gly891Val) c.2852G>T (p.Gly951Val) c.2519G>T (p.Gly840Val) | ClinVar dbSNP |
| 7 | g.117603637_117603638dup | CA326920 | CFTR | c.2763_2764dup (p.Val922GlufsTer2) c.*2477_*2478dup (n.*2477_*2478dup) c.2580_2581dup (p.Val861GlufsTer2) c.*1063_*1064dup (n.*1063_*1064dup) c.*2587_*2588dup (n.*2587_*2588dup) c.2337_2338dup (p.Val780GlufsTer2) c.354_355dup (p.Val119GlufsTer2) c.413_414dup c.1545_1546dup (p.Val516GlufsTer2) c.2673_2674dup (p.Val892GlufsTer2) c.2853_2854dup (p.Val952GlufsTer2) c.2520_2521dup (p.Val841GlufsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603637A>C | CA457227955 | CFTR | c.2763A>C (p.Gly921=) c.*2477A>C (n.*2477A>C) c.2580A>C (p.Gly860=) c.*1063A>C (n.*1063A>C) c.*2587A>C (n.*2587A>C) c.2337A>C (p.Gly779=) c.354A>C (p.Gly118=) c.413A>C c.1545A>C (p.Gly515=) c.2673A>C (p.Gly891=) c.2853A>C (p.Gly951=) c.2520A>C (p.Gly840=) | |
| 7 | g.117603637A>G | CA457227956 | CFTR | c.2763A>G (p.Gly921=) c.*2477A>G (n.*2477A>G) c.2580A>G (p.Gly860=) c.*1063A>G (n.*1063A>G) c.*2587A>G (n.*2587A>G) c.2337A>G (p.Gly779=) c.354A>G (p.Gly118=) c.413A>G c.1545A>G (p.Gly515=) c.2673A>G (p.Gly891=) c.2853A>G (p.Gly951=) c.2520A>G (p.Gly840=) | |
| 7 | g.117603637A>T | CA457227957 | CFTR | c.2763A>T (p.Gly921=) c.*2477A>T (n.*2477A>T) c.2580A>T (p.Gly860=) c.*1063A>T (n.*1063A>T) c.*2587A>T (n.*2587A>T) c.2337A>T (p.Gly779=) c.354A>T (p.Gly118=) c.413A>T c.1545A>T (p.Gly515=) c.2673A>T (p.Gly891=) c.2853A>T (p.Gly951=) c.2520A>T (p.Gly840=) | |
| 7 | g.117603638G>A | CA368986694 | CFTR | c.2764G>A (p.Val922Ile) c.*2478G>A (n.*2478G>A) c.2581G>A (p.Val861Ile) c.*1064G>A (n.*1064G>A) c.*2588G>A (n.*2588G>A) c.2338G>A (p.Val780Ile) c.355G>A (p.Val119Ile) c.414G>A c.1546G>A (p.Val516Ile) c.2674G>A (p.Val892Ile) c.2854G>A (p.Val952Ile) c.2521G>A (p.Val841Ile) | ClinVar dbSNP COSMIC |
| 7 | g.117603638G>C | CA368986689 | CFTR | c.2764G>C (p.Val922Leu) c.*2478G>C (n.*2478G>C) c.2581G>C (p.Val861Leu) c.*1064G>C (n.*1064G>C) c.*2588G>C (n.*2588G>C) c.2338G>C (p.Val780Leu) c.355G>C (p.Val119Leu) c.414G>C c.1546G>C (p.Val516Leu) c.2674G>C (p.Val892Leu) c.2854G>C (p.Val952Leu) c.2521G>C (p.Val841Leu) | ClinVar gnomAD v4 |
| 7 | g.117603638G= | CA1737374900 | CFTR | c.2764G= (p.Val922=) c.*2478G= (n.*2478G=) c.2581G= (p.Val861=) c.*1064G= (n.*1064G=) c.*2588G= (n.*2588G=) c.2338G= (p.Val780=) c.355G= (p.Val119=) c.414G= c.1546G= (p.Val516=) c.2674G= (p.Val892=) c.2854G= (p.Val952=) c.2521G= (p.Val841=) | |
| 7 | g.117603638G>T | CA368986692 | CFTR | c.2764G>T (p.Val922Leu) c.*2478G>T (n.*2478G>T) c.2581G>T (p.Val861Leu) c.*1064G>T (n.*1064G>T) c.*2588G>T (n.*2588G>T) c.2338G>T (p.Val780Leu) c.355G>T (p.Val119Leu) c.414G>T c.1546G>T (p.Val516Leu) c.2674G>T (p.Val892Leu) c.2854G>T (p.Val952Leu) c.2521G>T (p.Val841Leu) | |
| 7 | g.117603639T>A | CA368986697 | CFTR | c.2765T>A (p.Val922Glu) c.*2479T>A (n.*2479T>A) c.2582T>A (p.Val861Glu) c.*1065T>A (n.*1065T>A) c.*2589T>A (n.*2589T>A) c.2339T>A (p.Val780Glu) c.356T>A (p.Val119Glu) c.415T>A c.1547T>A (p.Val516Glu) c.2675T>A (p.Val892Glu) c.2855T>A (p.Val952Glu) c.2522T>A (p.Val841Glu) | |
| 7 | g.117603639T>C | CA368986699 | CFTR | c.2765T>C (p.Val922Ala) c.*2479T>C (n.*2479T>C) c.2582T>C (p.Val861Ala) c.*1065T>C (n.*1065T>C) c.*2589T>C (n.*2589T>C) c.2339T>C (p.Val780Ala) c.356T>C (p.Val119Ala) c.415T>C c.1547T>C (p.Val516Ala) c.2675T>C (p.Val892Ala) c.2855T>C (p.Val952Ala) c.2522T>C (p.Val841Ala) | |
| 7 | g.117603639T>G | CA368986702 | CFTR | c.2765T>G (p.Val922Gly) c.*2479T>G (n.*2479T>G) c.2582T>G (p.Val861Gly) c.*1065T>G (n.*1065T>G) c.*2589T>G (n.*2589T>G) c.2339T>G (p.Val780Gly) c.356T>G (p.Val119Gly) c.415T>G c.1547T>G (p.Val516Gly) c.2675T>G (p.Val892Gly) c.2855T>G (p.Val952Gly) c.2522T>G (p.Val841Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603639T= | CA1737374907 | CFTR | c.2765T= (p.Val922=) c.*2479T= (n.*2479T=) c.2582T= (p.Val861=) c.*1065T= (n.*1065T=) c.*2589T= (n.*2589T=) c.2339T= (p.Val780=) c.356T= (p.Val119=) c.415T= c.1547T= (p.Val516=) c.2675T= (p.Val892=) c.2855T= (p.Val952=) c.2522T= (p.Val841=) | |
| 7 | g.117603640A= | CA1737374915 | CFTR | c.2766A= (p.Val922=) c.*2480A= (n.*2480A=) c.2583A= (p.Val861=) c.*1066A= (n.*1066A=) c.*2590A= (n.*2590A=) c.2340A= (p.Val780=) c.357A= (p.Val119=) c.416A= c.1548A= (p.Val516=) c.2676A= (p.Val892=) c.2856A= (p.Val952=) c.2523A= (p.Val841=) | |
| 7 | g.117603640A>C | CA457227958 | CFTR | c.2766A>C (p.Val922=) c.*2480A>C (n.*2480A>C) c.2583A>C (p.Val861=) c.*1066A>C (n.*1066A>C) c.*2590A>C (n.*2590A>C) c.2340A>C (p.Val780=) c.357A>C (p.Val119=) c.416A>C c.1548A>C (p.Val516=) c.2676A>C (p.Val892=) c.2856A>C (p.Val952=) c.2523A>C (p.Val841=) | |
| 7 | g.117603640A>G | CA4451285 | CFTR | c.2766A>G (p.Val922=) c.*2480A>G (n.*2480A>G) c.2583A>G (p.Val861=) c.*1066A>G (n.*1066A>G) c.*2590A>G (n.*2590A>G) c.2340A>G (p.Val780=) c.357A>G (p.Val119=) c.416A>G c.1548A>G (p.Val516=) c.2676A>G (p.Val892=) c.2856A>G (p.Val952=) c.2523A>G (p.Val841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603640A>T | CA457227959 | CFTR | c.2766A>T (p.Val922=) c.*2480A>T (n.*2480A>T) c.2583A>T (p.Val861=) c.*1066A>T (n.*1066A>T) c.*2590A>T (n.*2590A>T) c.2340A>T (p.Val780=) c.357A>T (p.Val119=) c.416A>T c.1548A>T (p.Val516=) c.2676A>T (p.Val892=) c.2856A>T (p.Val952=) c.2523A>T (p.Val841=) | |
| 7 | g.117603641G>A | CA368986708 | CFTR | c.2767G>A (p.Ala923Thr) c.*2481G>A (n.*2481G>A) c.2584G>A (p.Ala862Thr) c.*1067G>A (n.*1067G>A) c.*2591G>A (n.*2591G>A) c.2341G>A (p.Ala781Thr) c.358G>A (p.Ala120Thr) c.417G>A c.1549G>A (p.Ala517Thr) c.2677G>A (p.Ala893Thr) c.2857G>A (p.Ala953Thr) c.2524G>A (p.Ala842Thr) | |
| 7 | g.117603641G>C | CA368986710 | CFTR | c.2767G>C (p.Ala923Pro) c.*2481G>C (n.*2481G>C) c.2584G>C (p.Ala862Pro) c.*1067G>C (n.*1067G>C) c.*2591G>C (n.*2591G>C) c.2341G>C (p.Ala781Pro) c.358G>C (p.Ala120Pro) c.417G>C c.1549G>C (p.Ala517Pro) c.2677G>C (p.Ala893Pro) c.2857G>C (p.Ala953Pro) c.2524G>C (p.Ala842Pro) | |
| 7 | g.117603641G>T | CA368986713 | CFTR | c.2767G>T (p.Ala923Ser) c.*2481G>T (n.*2481G>T) c.2584G>T (p.Ala862Ser) c.*1067G>T (n.*1067G>T) c.*2591G>T (n.*2591G>T) c.2341G>T (p.Ala781Ser) c.358G>T (p.Ala120Ser) c.417G>T c.1549G>T (p.Ala517Ser) c.2677G>T (p.Ala893Ser) c.2857G>T (p.Ala953Ser) c.2524G>T (p.Ala842Ser) | |
| 7 | g.117603642C>A | CA260222 | CFTR | c.2768C>A (p.Ala923Asp) c.*2482C>A (n.*2482C>A) c.2585C>A (p.Ala862Asp) c.*1068C>A (n.*1068C>A) c.*2592C>A (n.*2592C>A) c.2342C>A (p.Ala781Asp) c.359C>A (p.Ala120Asp) c.418C>A c.1550C>A (p.Ala517Asp) c.2678C>A (p.Ala893Asp) c.2858C>A (p.Ala953Asp) c.2525C>A (p.Ala842Asp) | ClinVar dbSNP |
| 7 | g.117603642C= | CA1737374927 | CFTR | c.2768C= (p.Ala923=) c.*2482C= (n.*2482C=) c.2585C= (p.Ala862=) c.*1068C= (n.*1068C=) c.*2592C= (n.*2592C=) c.2342C= (p.Ala781=) c.359C= (p.Ala120=) c.418C= c.1550C= (p.Ala517=) c.2678C= (p.Ala893=) c.2858C= (p.Ala953=) c.2525C= (p.Ala842=) | |
| 7 | g.117603642C>G | CA368986716 | CFTR | c.2768C>G (p.Ala923Gly) c.*2482C>G (n.*2482C>G) c.2585C>G (p.Ala862Gly) c.*1068C>G (n.*1068C>G) c.*2592C>G (n.*2592C>G) c.2342C>G (p.Ala781Gly) c.359C>G (p.Ala120Gly) c.418C>G c.1550C>G (p.Ala517Gly) c.2678C>G (p.Ala893Gly) c.2858C>G (p.Ala953Gly) c.2525C>G (p.Ala842Gly) | gnomAD v4 |
| 7 | g.117603642C>T | CA368986719 | CFTR | c.2768C>T (p.Ala923Val) c.*2482C>T (n.*2482C>T) c.2585C>T (p.Ala862Val) c.*1068C>T (n.*1068C>T) c.*2592C>T (n.*2592C>T) c.2342C>T (p.Ala781Val) c.359C>T (p.Ala120Val) c.418C>T c.1550C>T (p.Ala517Val) c.2678C>T (p.Ala893Val) c.2858C>T (p.Ala953Val) c.2525C>T (p.Ala842Val) | |
| 7 | g.117603643C>A | CA457227960 | CFTR | c.2769C>A (p.Ala923=) c.*2483C>A (n.*2483C>A) c.2586C>A (p.Ala862=) c.*1069C>A (n.*1069C>A) c.*2593C>A (n.*2593C>A) c.2343C>A (p.Ala781=) c.360C>A (p.Ala120=) c.419C>A c.1551C>A (p.Ala517=) c.2679C>A (p.Ala893=) c.2859C>A (p.Ala953=) c.2526C>A (p.Ala842=) | |
| 7 | g.117603643C= | CA1737374934 | CFTR | c.2769C= (p.Ala923=) c.*2483C= (n.*2483C=) c.2586C= (p.Ala862=) c.*1069C= (n.*1069C=) c.*2593C= (n.*2593C=) c.2343C= (p.Ala781=) c.360C= (p.Ala120=) c.419C= c.1551C= (p.Ala517=) c.2679C= (p.Ala893=) c.2859C= (p.Ala953=) c.2526C= (p.Ala842=) | |
| 7 | g.117603643C>G | CA457227961 | CFTR | c.2769C>G (p.Ala923=) c.*2483C>G (n.*2483C>G) c.2586C>G (p.Ala862=) c.*1069C>G (n.*1069C>G) c.*2593C>G (n.*2593C>G) c.2343C>G (p.Ala781=) c.360C>G (p.Ala120=) c.419C>G c.1551C>G (p.Ala517=) c.2679C>G (p.Ala893=) c.2859C>G (p.Ala953=) c.2526C>G (p.Ala842=) | |
| 7 | g.117603643C>T | CA221014 | CFTR | c.2769C>T (p.Ala923=) c.*2483C>T (n.*2483C>T) c.2586C>T (p.Ala862=) c.*1069C>T (n.*1069C>T) c.*2593C>T (n.*2593C>T) c.2343C>T (p.Ala781=) c.360C>T (p.Ala120=) c.419C>T c.1551C>T (p.Ala517=) c.2679C>T (p.Ala893=) c.2859C>T (p.Ala953=) c.2526C>T (p.Ala842=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603644G>A | CA326923 | CFTR | c.2770G>A (p.Asp924Asn) c.*2484G>A (n.*2484G>A) c.2587G>A (p.Asp863Asn) c.*1070G>A (n.*1070G>A) c.*2594G>A (n.*2594G>A) c.2344G>A (p.Asp782Asn) c.361G>A (p.Asp121Asn) c.420G>A c.1552G>A (p.Asp518Asn) c.2680G>A (p.Asp894Asn) c.2860G>A (p.Asp954Asn) c.2527G>A (p.Asp843Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117603644G>C | CA368986725 | CFTR | c.2770G>C (p.Asp924His) c.*2484G>C (n.*2484G>C) c.2587G>C (p.Asp863His) c.*1070G>C (n.*1070G>C) c.*2594G>C (n.*2594G>C) c.2344G>C (p.Asp782His) c.361G>C (p.Asp121His) c.420G>C c.1552G>C (p.Asp518His) c.2680G>C (p.Asp894His) c.2860G>C (p.Asp954His) c.2527G>C (p.Asp843His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603644G= | CA1737374942 | CFTR | c.2770G= (p.Asp924=) c.*2484G= (n.*2484G=) c.2587G= (p.Asp863=) c.*1070G= (n.*1070G=) c.*2594G= (n.*2594G=) c.2344G= (p.Asp782=) c.361G= (p.Asp121=) c.420G= c.1552G= (p.Asp518=) c.2680G= (p.Asp894=) c.2860G= (p.Asp954=) c.2527G= (p.Asp843=) | |
| 7 | g.117603644G>T | CA368986723 | CFTR | c.2770G>T (p.Asp924Tyr) c.*2484G>T (n.*2484G>T) c.2587G>T (p.Asp863Tyr) c.*1070G>T (n.*1070G>T) c.*2594G>T (n.*2594G>T) c.2344G>T (p.Asp782Tyr) c.361G>T (p.Asp121Tyr) c.420G>T c.1552G>T (p.Asp518Tyr) c.2680G>T (p.Asp894Tyr) c.2860G>T (p.Asp954Tyr) c.2527G>T (p.Asp843Tyr) | gnomAD v4 |
| 7 | g.117603645A>C | CA368986727 | CFTR | c.2771A>C (p.Asp924Ala) c.*2485A>C (n.*2485A>C) c.2588A>C (p.Asp863Ala) c.*1071A>C (n.*1071A>C) c.*2595A>C (n.*2595A>C) c.2345A>C (p.Asp782Ala) c.362A>C (p.Asp121Ala) c.421A>C c.1553A>C (p.Asp518Ala) c.2681A>C (p.Asp894Ala) c.2861A>C (p.Asp954Ala) c.2528A>C (p.Asp843Ala) | |
| 7 | g.117603645A>G | CA368986729 | CFTR | c.2771A>G (p.Asp924Gly) c.*2485A>G (n.*2485A>G) c.2588A>G (p.Asp863Gly) c.*1071A>G (n.*1071A>G) c.*2595A>G (n.*2595A>G) c.2345A>G (p.Asp782Gly) c.362A>G (p.Asp121Gly) c.421A>G c.1553A>G (p.Asp518Gly) c.2681A>G (p.Asp894Gly) c.2861A>G (p.Asp954Gly) c.2528A>G (p.Asp843Gly) | COSMIC |
| 7 | g.117603645A>T | CA368986731 | CFTR | c.2771A>T (p.Asp924Val) c.*2485A>T (n.*2485A>T) c.2588A>T (p.Asp863Val) c.*1071A>T (n.*1071A>T) c.*2595A>T (n.*2595A>T) c.2345A>T (p.Asp782Val) c.362A>T (p.Asp121Val) c.421A>T c.1553A>T (p.Asp518Val) c.2681A>T (p.Asp894Val) c.2861A>T (p.Asp954Val) c.2528A>T (p.Asp843Val) | |
| 7 | g.117603646C>A | CA368986737 | CFTR | c.2772C>A (p.Asp924Glu) c.*2486C>A (n.*2486C>A) c.2589C>A (p.Asp863Glu) c.*1072C>A (n.*1072C>A) c.*2596C>A (n.*2596C>A) c.2346C>A (p.Asp782Glu) c.363C>A (p.Asp121Glu) c.422C>A c.1554C>A (p.Asp518Glu) c.2682C>A (p.Asp894Glu) c.2862C>A (p.Asp954Glu) c.2529C>A (p.Asp843Glu) | ClinVar dbSNP COSMIC |
| 7 | g.117603646C= | CA1737374962 | CFTR | c.2772C= (p.Asp924=) c.*2486C= (n.*2486C=) c.2589C= (p.Asp863=) c.*1072C= (n.*1072C=) c.*2596C= (n.*2596C=) c.2346C= (p.Asp782=) c.363C= (p.Asp121=) c.422C= c.1554C= (p.Asp518=) c.2682C= (p.Asp894=) c.2862C= (p.Asp954=) c.2529C= (p.Asp843=) | |
| 7 | g.117603646C>G | CA368986740 | CFTR | c.2772C>G (p.Asp924Glu) c.*2486C>G (n.*2486C>G) c.2589C>G (p.Asp863Glu) c.*1072C>G (n.*1072C>G) c.*2596C>G (n.*2596C>G) c.2346C>G (p.Asp782Glu) c.363C>G (p.Asp121Glu) c.422C>G c.1554C>G (p.Asp518Glu) c.2682C>G (p.Asp894Glu) c.2862C>G (p.Asp954Glu) c.2529C>G (p.Asp843Glu) | |
| 7 | g.117603646C>T | CA457227962 | CFTR | c.2772C>T (p.Asp924=) c.*2486C>T (n.*2486C>T) c.2589C>T (p.Asp863=) c.*1072C>T (n.*1072C>T) c.*2596C>T (n.*2596C>T) c.2346C>T (p.Asp782=) c.363C>T (p.Asp121=) c.422C>T c.1554C>T (p.Asp518=) c.2682C>T (p.Asp894=) c.2862C>T (p.Asp954=) c.2529C>T (p.Asp843=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603647A= | CA1737374972 | CFTR | c.2773A= (p.Thr925=) c.*2487A= (n.*2487A=) c.2590A= (p.Thr864=) c.*1073A= (n.*1073A=) c.*2597A= (n.*2597A=) c.2347A= (p.Thr783=) c.364A= (p.Thr122=) c.423A= c.1555A= (p.Thr519=) c.2683A= (p.Thr895=) c.2863A= (p.Thr955=) c.2530A= (p.Thr844=) | |
| 7 | g.117603647A>C | CA368986742 | CFTR | c.2773A>C (p.Thr925Pro) c.*2487A>C (n.*2487A>C) c.2590A>C (p.Thr864Pro) c.*1073A>C (n.*1073A>C) c.*2597A>C (n.*2597A>C) c.2347A>C (p.Thr783Pro) c.364A>C (p.Thr122Pro) c.423A>C c.1555A>C (p.Thr519Pro) c.2683A>C (p.Thr895Pro) c.2863A>C (p.Thr955Pro) c.2530A>C (p.Thr844Pro) | |
| 7 | g.117603647A>G | CA368986746 | CFTR | c.2773A>G (p.Thr925Ala) c.*2487A>G (n.*2487A>G) c.2590A>G (p.Thr864Ala) c.*1073A>G (n.*1073A>G) c.*2597A>G (n.*2597A>G) c.2347A>G (p.Thr783Ala) c.364A>G (p.Thr122Ala) c.423A>G c.1555A>G (p.Thr519Ala) c.2683A>G (p.Thr895Ala) c.2863A>G (p.Thr955Ala) c.2530A>G (p.Thr844Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603647A>T | CA368986749 | CFTR | c.2773A>T (p.Thr925Ser) c.*2487A>T (n.*2487A>T) c.2590A>T (p.Thr864Ser) c.*1073A>T (n.*1073A>T) c.*2597A>T (n.*2597A>T) c.2347A>T (p.Thr783Ser) c.364A>T (p.Thr122Ser) c.423A>T c.1555A>T (p.Thr519Ser) c.2683A>T (p.Thr895Ser) c.2863A>T (p.Thr955Ser) c.2530A>T (p.Thr844Ser) |