| 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.117603640A= | CA1737374915 | CFTR | c.2766A= (p.Val922=) c.*2480A= (n.*2480A=) c.2583A= (p.Val861=) c.*1066A= (n.*1066A=) c.*2590A= (n.*2590A=) c.2340A= (p.Val780=) c.357A= (p.Val119=) c.416A= c.1548A= (p.Val516=) c.2676A= (p.Val892=) c.2856A= (p.Val952=) c.2523A= (p.Val841=) | |
| 7 | g.117603640A>C | CA457227958 | CFTR | c.2766A>C (p.Val922=) c.*2480A>C (n.*2480A>C) c.2583A>C (p.Val861=) c.*1066A>C (n.*1066A>C) c.*2590A>C (n.*2590A>C) c.2340A>C (p.Val780=) c.357A>C (p.Val119=) c.416A>C c.1548A>C (p.Val516=) c.2676A>C (p.Val892=) c.2856A>C (p.Val952=) c.2523A>C (p.Val841=) | |
| 7 | g.117603640A>G | CA4451285 | CFTR | c.2766A>G (p.Val922=) c.*2480A>G (n.*2480A>G) c.2583A>G (p.Val861=) c.*1066A>G (n.*1066A>G) c.*2590A>G (n.*2590A>G) c.2340A>G (p.Val780=) c.357A>G (p.Val119=) c.416A>G c.1548A>G (p.Val516=) c.2676A>G (p.Val892=) c.2856A>G (p.Val952=) c.2523A>G (p.Val841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603640A>T | CA457227959 | CFTR | c.2766A>T (p.Val922=) c.*2480A>T (n.*2480A>T) c.2583A>T (p.Val861=) c.*1066A>T (n.*1066A>T) c.*2590A>T (n.*2590A>T) c.2340A>T (p.Val780=) c.357A>T (p.Val119=) c.416A>T c.1548A>T (p.Val516=) c.2676A>T (p.Val892=) c.2856A>T (p.Val952=) c.2523A>T (p.Val841=) | |
| 7 | g.117603641G>A | CA368986708 | CFTR | c.2767G>A (p.Ala923Thr) c.*2481G>A (n.*2481G>A) c.2584G>A (p.Ala862Thr) c.*1067G>A (n.*1067G>A) c.*2591G>A (n.*2591G>A) c.2341G>A (p.Ala781Thr) c.358G>A (p.Ala120Thr) c.417G>A c.1549G>A (p.Ala517Thr) c.2677G>A (p.Ala893Thr) c.2857G>A (p.Ala953Thr) c.2524G>A (p.Ala842Thr) | |
| 7 | g.117603641G>C | CA368986710 | CFTR | c.2767G>C (p.Ala923Pro) c.*2481G>C (n.*2481G>C) c.2584G>C (p.Ala862Pro) c.*1067G>C (n.*1067G>C) c.*2591G>C (n.*2591G>C) c.2341G>C (p.Ala781Pro) c.358G>C (p.Ala120Pro) c.417G>C c.1549G>C (p.Ala517Pro) c.2677G>C (p.Ala893Pro) c.2857G>C (p.Ala953Pro) c.2524G>C (p.Ala842Pro) | |
| 7 | g.117603641G>T | CA368986713 | CFTR | c.2767G>T (p.Ala923Ser) c.*2481G>T (n.*2481G>T) c.2584G>T (p.Ala862Ser) c.*1067G>T (n.*1067G>T) c.*2591G>T (n.*2591G>T) c.2341G>T (p.Ala781Ser) c.358G>T (p.Ala120Ser) c.417G>T c.1549G>T (p.Ala517Ser) c.2677G>T (p.Ala893Ser) c.2857G>T (p.Ala953Ser) c.2524G>T (p.Ala842Ser) | |
| 7 | g.117603642C>A | CA260222 | CFTR | c.2768C>A (p.Ala923Asp) c.*2482C>A (n.*2482C>A) c.2585C>A (p.Ala862Asp) c.*1068C>A (n.*1068C>A) c.*2592C>A (n.*2592C>A) c.2342C>A (p.Ala781Asp) c.359C>A (p.Ala120Asp) c.418C>A c.1550C>A (p.Ala517Asp) c.2678C>A (p.Ala893Asp) c.2858C>A (p.Ala953Asp) c.2525C>A (p.Ala842Asp) | ClinVar dbSNP |
| 7 | g.117603642C= | CA1737374927 | CFTR | c.2768C= (p.Ala923=) c.*2482C= (n.*2482C=) c.2585C= (p.Ala862=) c.*1068C= (n.*1068C=) c.*2592C= (n.*2592C=) c.2342C= (p.Ala781=) c.359C= (p.Ala120=) c.418C= c.1550C= (p.Ala517=) c.2678C= (p.Ala893=) c.2858C= (p.Ala953=) c.2525C= (p.Ala842=) | |
| 7 | g.117603642C>G | CA368986716 | CFTR | c.2768C>G (p.Ala923Gly) c.*2482C>G (n.*2482C>G) c.2585C>G (p.Ala862Gly) c.*1068C>G (n.*1068C>G) c.*2592C>G (n.*2592C>G) c.2342C>G (p.Ala781Gly) c.359C>G (p.Ala120Gly) c.418C>G c.1550C>G (p.Ala517Gly) c.2678C>G (p.Ala893Gly) c.2858C>G (p.Ala953Gly) c.2525C>G (p.Ala842Gly) | gnomAD v4 |
| 7 | g.117603642C>T | CA368986719 | CFTR | c.2768C>T (p.Ala923Val) c.*2482C>T (n.*2482C>T) c.2585C>T (p.Ala862Val) c.*1068C>T (n.*1068C>T) c.*2592C>T (n.*2592C>T) c.2342C>T (p.Ala781Val) c.359C>T (p.Ala120Val) c.418C>T c.1550C>T (p.Ala517Val) c.2678C>T (p.Ala893Val) c.2858C>T (p.Ala953Val) c.2525C>T (p.Ala842Val) | |
| 7 | g.117603643C>A | CA457227960 | CFTR | c.2769C>A (p.Ala923=) c.*2483C>A (n.*2483C>A) c.2586C>A (p.Ala862=) c.*1069C>A (n.*1069C>A) c.*2593C>A (n.*2593C>A) c.2343C>A (p.Ala781=) c.360C>A (p.Ala120=) c.419C>A c.1551C>A (p.Ala517=) c.2679C>A (p.Ala893=) c.2859C>A (p.Ala953=) c.2526C>A (p.Ala842=) | |
| 7 | g.117603643C= | CA1737374934 | CFTR | c.2769C= (p.Ala923=) c.*2483C= (n.*2483C=) c.2586C= (p.Ala862=) c.*1069C= (n.*1069C=) c.*2593C= (n.*2593C=) c.2343C= (p.Ala781=) c.360C= (p.Ala120=) c.419C= c.1551C= (p.Ala517=) c.2679C= (p.Ala893=) c.2859C= (p.Ala953=) c.2526C= (p.Ala842=) | |
| 7 | g.117603643C>G | CA457227961 | CFTR | c.2769C>G (p.Ala923=) c.*2483C>G (n.*2483C>G) c.2586C>G (p.Ala862=) c.*1069C>G (n.*1069C>G) c.*2593C>G (n.*2593C>G) c.2343C>G (p.Ala781=) c.360C>G (p.Ala120=) c.419C>G c.1551C>G (p.Ala517=) c.2679C>G (p.Ala893=) c.2859C>G (p.Ala953=) c.2526C>G (p.Ala842=) | |
| 7 | g.117603643C>T | CA221014 | CFTR | c.2769C>T (p.Ala923=) c.*2483C>T (n.*2483C>T) c.2586C>T (p.Ala862=) c.*1069C>T (n.*1069C>T) c.*2593C>T (n.*2593C>T) c.2343C>T (p.Ala781=) c.360C>T (p.Ala120=) c.419C>T c.1551C>T (p.Ala517=) c.2679C>T (p.Ala893=) c.2859C>T (p.Ala953=) c.2526C>T (p.Ala842=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603644G>A | CA326923 | CFTR | c.2770G>A (p.Asp924Asn) c.*2484G>A (n.*2484G>A) c.2587G>A (p.Asp863Asn) c.*1070G>A (n.*1070G>A) c.*2594G>A (n.*2594G>A) c.2344G>A (p.Asp782Asn) c.361G>A (p.Asp121Asn) c.420G>A c.1552G>A (p.Asp518Asn) c.2680G>A (p.Asp894Asn) c.2860G>A (p.Asp954Asn) c.2527G>A (p.Asp843Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117603644G>C | CA368986725 | CFTR | c.2770G>C (p.Asp924His) c.*2484G>C (n.*2484G>C) c.2587G>C (p.Asp863His) c.*1070G>C (n.*1070G>C) c.*2594G>C (n.*2594G>C) c.2344G>C (p.Asp782His) c.361G>C (p.Asp121His) c.420G>C c.1552G>C (p.Asp518His) c.2680G>C (p.Asp894His) c.2860G>C (p.Asp954His) c.2527G>C (p.Asp843His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603644G= | CA1737374942 | CFTR | c.2770G= (p.Asp924=) c.*2484G= (n.*2484G=) c.2587G= (p.Asp863=) c.*1070G= (n.*1070G=) c.*2594G= (n.*2594G=) c.2344G= (p.Asp782=) c.361G= (p.Asp121=) c.420G= c.1552G= (p.Asp518=) c.2680G= (p.Asp894=) c.2860G= (p.Asp954=) c.2527G= (p.Asp843=) | |
| 7 | g.117603644G>T | CA368986723 | CFTR | c.2770G>T (p.Asp924Tyr) c.*2484G>T (n.*2484G>T) c.2587G>T (p.Asp863Tyr) c.*1070G>T (n.*1070G>T) c.*2594G>T (n.*2594G>T) c.2344G>T (p.Asp782Tyr) c.361G>T (p.Asp121Tyr) c.420G>T c.1552G>T (p.Asp518Tyr) c.2680G>T (p.Asp894Tyr) c.2860G>T (p.Asp954Tyr) c.2527G>T (p.Asp843Tyr) | gnomAD v4 |
| 7 | g.117603645A>C | CA368986727 | CFTR | c.2771A>C (p.Asp924Ala) c.*2485A>C (n.*2485A>C) c.2588A>C (p.Asp863Ala) c.*1071A>C (n.*1071A>C) c.*2595A>C (n.*2595A>C) c.2345A>C (p.Asp782Ala) c.362A>C (p.Asp121Ala) c.421A>C c.1553A>C (p.Asp518Ala) c.2681A>C (p.Asp894Ala) c.2861A>C (p.Asp954Ala) c.2528A>C (p.Asp843Ala) | |
| 7 | g.117603645A>G | CA368986729 | CFTR | c.2771A>G (p.Asp924Gly) c.*2485A>G (n.*2485A>G) c.2588A>G (p.Asp863Gly) c.*1071A>G (n.*1071A>G) c.*2595A>G (n.*2595A>G) c.2345A>G (p.Asp782Gly) c.362A>G (p.Asp121Gly) c.421A>G c.1553A>G (p.Asp518Gly) c.2681A>G (p.Asp894Gly) c.2861A>G (p.Asp954Gly) c.2528A>G (p.Asp843Gly) | COSMIC |
| 7 | g.117603645A>T | CA368986731 | CFTR | c.2771A>T (p.Asp924Val) c.*2485A>T (n.*2485A>T) c.2588A>T (p.Asp863Val) c.*1071A>T (n.*1071A>T) c.*2595A>T (n.*2595A>T) c.2345A>T (p.Asp782Val) c.362A>T (p.Asp121Val) c.421A>T c.1553A>T (p.Asp518Val) c.2681A>T (p.Asp894Val) c.2861A>T (p.Asp954Val) c.2528A>T (p.Asp843Val) | |
| 7 | g.117603646C>A | CA368986737 | CFTR | c.2772C>A (p.Asp924Glu) c.*2486C>A (n.*2486C>A) c.2589C>A (p.Asp863Glu) c.*1072C>A (n.*1072C>A) c.*2596C>A (n.*2596C>A) c.2346C>A (p.Asp782Glu) c.363C>A (p.Asp121Glu) c.422C>A c.1554C>A (p.Asp518Glu) c.2682C>A (p.Asp894Glu) c.2862C>A (p.Asp954Glu) c.2529C>A (p.Asp843Glu) | ClinVar dbSNP COSMIC |
| 7 | g.117603646C= | CA1737374962 | CFTR | c.2772C= (p.Asp924=) c.*2486C= (n.*2486C=) c.2589C= (p.Asp863=) c.*1072C= (n.*1072C=) c.*2596C= (n.*2596C=) c.2346C= (p.Asp782=) c.363C= (p.Asp121=) c.422C= c.1554C= (p.Asp518=) c.2682C= (p.Asp894=) c.2862C= (p.Asp954=) c.2529C= (p.Asp843=) | |
| 7 | g.117603646C>G | CA368986740 | CFTR | c.2772C>G (p.Asp924Glu) c.*2486C>G (n.*2486C>G) c.2589C>G (p.Asp863Glu) c.*1072C>G (n.*1072C>G) c.*2596C>G (n.*2596C>G) c.2346C>G (p.Asp782Glu) c.363C>G (p.Asp121Glu) c.422C>G c.1554C>G (p.Asp518Glu) c.2682C>G (p.Asp894Glu) c.2862C>G (p.Asp954Glu) c.2529C>G (p.Asp843Glu) | |
| 7 | g.117603646C>T | CA457227962 | CFTR | c.2772C>T (p.Asp924=) c.*2486C>T (n.*2486C>T) c.2589C>T (p.Asp863=) c.*1072C>T (n.*1072C>T) c.*2596C>T (n.*2596C>T) c.2346C>T (p.Asp782=) c.363C>T (p.Asp121=) c.422C>T c.1554C>T (p.Asp518=) c.2682C>T (p.Asp894=) c.2862C>T (p.Asp954=) c.2529C>T (p.Asp843=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603647A= | CA1737374972 | CFTR | c.2773A= (p.Thr925=) c.*2487A= (n.*2487A=) c.2590A= (p.Thr864=) c.*1073A= (n.*1073A=) c.*2597A= (n.*2597A=) c.2347A= (p.Thr783=) c.364A= (p.Thr122=) c.423A= c.1555A= (p.Thr519=) c.2683A= (p.Thr895=) c.2863A= (p.Thr955=) c.2530A= (p.Thr844=) | |
| 7 | g.117603647A>C | CA368986742 | CFTR | c.2773A>C (p.Thr925Pro) c.*2487A>C (n.*2487A>C) c.2590A>C (p.Thr864Pro) c.*1073A>C (n.*1073A>C) c.*2597A>C (n.*2597A>C) c.2347A>C (p.Thr783Pro) c.364A>C (p.Thr122Pro) c.423A>C c.1555A>C (p.Thr519Pro) c.2683A>C (p.Thr895Pro) c.2863A>C (p.Thr955Pro) c.2530A>C (p.Thr844Pro) | |
| 7 | g.117603647A>G | CA368986746 | CFTR | c.2773A>G (p.Thr925Ala) c.*2487A>G (n.*2487A>G) c.2590A>G (p.Thr864Ala) c.*1073A>G (n.*1073A>G) c.*2597A>G (n.*2597A>G) c.2347A>G (p.Thr783Ala) c.364A>G (p.Thr122Ala) c.423A>G c.1555A>G (p.Thr519Ala) c.2683A>G (p.Thr895Ala) c.2863A>G (p.Thr955Ala) c.2530A>G (p.Thr844Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603647A>T | CA368986749 | CFTR | c.2773A>T (p.Thr925Ser) c.*2487A>T (n.*2487A>T) c.2590A>T (p.Thr864Ser) c.*1073A>T (n.*1073A>T) c.*2597A>T (n.*2597A>T) c.2347A>T (p.Thr783Ser) c.364A>T (p.Thr122Ser) c.423A>T c.1555A>T (p.Thr519Ser) c.2683A>T (p.Thr895Ser) c.2863A>T (p.Thr955Ser) c.2530A>T (p.Thr844Ser) | |
| 7 | g.117603648C>A | CA368986752 | CFTR | c.2774C>A (p.Thr925Asn) c.*2488C>A (n.*2488C>A) c.2591C>A (p.Thr864Asn) c.*1074C>A (n.*1074C>A) c.*2598C>A (n.*2598C>A) c.2348C>A (p.Thr783Asn) c.365C>A (p.Thr122Asn) c.424C>A c.1556C>A (p.Thr519Asn) c.2684C>A (p.Thr895Asn) c.2864C>A (p.Thr955Asn) c.2531C>A (p.Thr844Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603648C= | CA1737374982 | CFTR | c.2774C= (p.Thr925=) c.*2488C= (n.*2488C=) c.2591C= (p.Thr864=) c.*1074C= (n.*1074C=) c.*2598C= (n.*2598C=) c.2348C= (p.Thr783=) c.365C= (p.Thr122=) c.424C= c.1556C= (p.Thr519=) c.2684C= (p.Thr895=) c.2864C= (p.Thr955=) c.2531C= (p.Thr844=) | |
| 7 | g.117603648C>G | CA368986755 | CFTR | c.2774C>G (p.Thr925Ser) c.*2488C>G (n.*2488C>G) c.2591C>G (p.Thr864Ser) c.*1074C>G (n.*1074C>G) c.*2598C>G (n.*2598C>G) c.2348C>G (p.Thr783Ser) c.365C>G (p.Thr122Ser) c.424C>G c.1556C>G (p.Thr519Ser) c.2684C>G (p.Thr895Ser) c.2864C>G (p.Thr955Ser) c.2531C>G (p.Thr844Ser) | ClinVar gnomAD v4 |
| 7 | g.117603648C>T | CA164960163 | CFTR | c.2774C>T (p.Thr925Ile) c.*2488C>T (n.*2488C>T) c.2591C>T (p.Thr864Ile) c.*1074C>T (n.*1074C>T) c.*2598C>T (n.*2598C>T) c.2348C>T (p.Thr783Ile) c.365C>T (p.Thr122Ile) c.424C>T c.1556C>T (p.Thr519Ile) c.2684C>T (p.Thr895Ile) c.2864C>T (p.Thr955Ile) c.2531C>T (p.Thr844Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603648dup | CA2579000253 | CFTR | c.2774dup (p.Leu926PhefsTer?) c.*2488dup (n.*2488dup) c.2591dup (p.Leu865PhefsTer?) c.*1074dup (n.*1074dup) c.*2598dup (n.*2598dup) c.2348dup (p.Leu784PhefsTer?) c.365dup (p.Leu123PhefsTer?) c.424dup c.1556dup (p.Leu520PhefsTer?) c.2684dup (p.Leu896PhefsTer?) c.2864dup (p.Leu956PhefsTer?) c.2531dup (p.Leu845PhefsTer?) | |
| 7 | g.117603648_117603650delinsCTT | CA1737374978 | CFTR | c.2774_2776delinsCTT (p.Thr925=) c.*2488_*2490delinsCTT (n.*2488_*2490delinsCTT) c.2591_2593delinsCTT (p.Thr864=) c.*1074_*1076delinsCTT (n.*1074_*1076delinsCTT) c.*2598_*2600delinsCTT (n.*2598_*2600delinsCTT) c.2348_2350delinsCTT (p.Thr783=) c.365_367delinsCTT (p.Thr122=) c.424_426delinsCTT c.1556_1558delinsCTT (p.Thr519=) c.2684_2686delinsCTT (p.Thr895=) c.2864_2866delinsCTT (p.Thr955=) c.2531_2533delinsCTT (p.Thr844=) | |
| 7 | g.117603649T>A | CA457227963 | CFTR | c.2775T>A (p.Thr925=) c.*2489T>A (n.*2489T>A) c.2592T>A (p.Thr864=) c.*1075T>A (n.*1075T>A) c.*2599T>A (n.*2599T>A) c.2349T>A (p.Thr783=) c.366T>A (p.Thr122=) c.425T>A c.1557T>A (p.Thr519=) c.2685T>A (p.Thr895=) c.2865T>A (p.Thr955=) c.2532T>A (p.Thr844=) | |
| 7 | g.117603649T>C | CA457227964 | CFTR | c.2775T>C (p.Thr925=) c.*2489T>C (n.*2489T>C) c.2592T>C (p.Thr864=) c.*1075T>C (n.*1075T>C) c.*2599T>C (n.*2599T>C) c.2349T>C (p.Thr783=) c.366T>C (p.Thr122=) c.425T>C c.1557T>C (p.Thr519=) c.2685T>C (p.Thr895=) c.2865T>C (p.Thr955=) c.2532T>C (p.Thr844=) | |
| 7 | g.117603649T>G | CA457227965 | CFTR | c.2775T>G (p.Thr925=) c.*2489T>G (n.*2489T>G) c.2592T>G (p.Thr864=) c.*1075T>G (n.*1075T>G) c.*2599T>G (n.*2599T>G) c.2349T>G (p.Thr783=) c.366T>G (p.Thr122=) c.425T>G c.1557T>G (p.Thr519=) c.2685T>G (p.Thr895=) c.2865T>G (p.Thr955=) c.2532T>G (p.Thr844=) | |
| 7 | g.117603651del | CA326926 | CFTR | c.2777del (p.Leu926CysfsTer16) c.*2491del (n.*2491del) c.2594del (p.Leu865CysfsTer16) c.*1077del (n.*1077del) c.*2601del (n.*2601del) c.2351del (p.Leu784CysfsTer16) c.368del (p.Leu123CysfsTer16) c.427del c.1559del (p.Leu520CysfsTer16) c.2687del (p.Leu896CysfsTer16) c.2867del (p.Leu956CysfsTer16) c.2534del (p.Leu845CysfsTer16) | ClinVar dbSNP |
| 7 | g.117603650_117603651del | CA326925 | CFTR | c.2776_2777del (p.Leu926AlafsTer?) c.*2490_*2491del (n.*2490_*2491del) c.2593_2594del (p.Leu865AlafsTer?) c.*1076_*1077del (n.*1076_*1077del) c.*2600_*2601del (n.*2600_*2601del) c.2350_2351del (p.Leu784AlafsTer?) c.367_368del (p.Leu123AlafsTer?) c.426_427del c.1558_1559del (p.Leu520AlafsTer?) c.2686_2687del (p.Leu896AlafsTer?) c.2866_2867del (p.Leu956AlafsTer?) c.2533_2534del (p.Leu845AlafsTer?) | ClinVar dbSNP |
| 7 | g.117603650T>A | CA368986762 | CFTR | c.2776T>A (p.Leu926Met) c.*2490T>A (n.*2490T>A) c.2593T>A (p.Leu865Met) c.*1076T>A (n.*1076T>A) c.*2600T>A (n.*2600T>A) c.2350T>A (p.Leu784Met) c.367T>A (p.Leu123Met) c.426T>A c.1558T>A (p.Leu520Met) c.2686T>A (p.Leu896Met) c.2866T>A (p.Leu956Met) c.2533T>A (p.Leu845Met) | |
| 7 | g.117603650T>C | CA457227966 | CFTR | c.2776T>C (p.Leu926=) c.*2490T>C (n.*2490T>C) c.2593T>C (p.Leu865=) c.*1076T>C (n.*1076T>C) c.*2600T>C (n.*2600T>C) c.2350T>C (p.Leu784=) c.367T>C (p.Leu123=) c.426T>C c.1558T>C (p.Leu520=) c.2686T>C (p.Leu896=) c.2866T>C (p.Leu956=) c.2533T>C (p.Leu845=) | gnomAD v3 gnomAD v4 |
| 7 | g.117603650T>G | CA368986764 | CFTR | c.2776T>G (p.Leu926Val) c.*2490T>G (n.*2490T>G) c.2593T>G (p.Leu865Val) c.*1076T>G (n.*1076T>G) c.*2600T>G (n.*2600T>G) c.2350T>G (p.Leu784Val) c.367T>G (p.Leu123Val) c.426T>G c.1558T>G (p.Leu520Val) c.2686T>G (p.Leu896Val) c.2866T>G (p.Leu956Val) c.2533T>G (p.Leu845Val) | |
| 7 | g.117603651T>A | CA368986768 | CFTR | c.2777T>A (p.Leu926Ter) c.*2491T>A (n.*2491T>A) c.2594T>A (p.Leu865Ter) c.*1077T>A (n.*1077T>A) c.*2601T>A (n.*2601T>A) c.2351T>A (p.Leu784Ter) c.368T>A (p.Leu123Ter) c.427T>A c.1559T>A (p.Leu520Ter) c.2687T>A (p.Leu896Ter) c.2867T>A (p.Leu956Ter) c.2534T>A (p.Leu845Ter) | |
| 7 | g.117603651T>C | CA4451286 | CFTR | c.2777T>C (p.Leu926Ser) c.*2491T>C (n.*2491T>C) c.2594T>C (p.Leu865Ser) c.*1077T>C (n.*1077T>C) c.*2601T>C (n.*2601T>C) c.2351T>C (p.Leu784Ser) c.368T>C (p.Leu123Ser) c.427T>C c.1559T>C (p.Leu520Ser) c.2687T>C (p.Leu896Ser) c.2867T>C (p.Leu956Ser) c.2534T>C (p.Leu845Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603651T>G | CA368986771 | CFTR | c.2777T>G (p.Leu926Trp) c.*2491T>G (n.*2491T>G) c.2594T>G (p.Leu865Trp) c.*1077T>G (n.*1077T>G) c.*2601T>G (n.*2601T>G) c.2351T>G (p.Leu784Trp) c.368T>G (p.Leu123Trp) c.427T>G c.1559T>G (p.Leu520Trp) c.2687T>G (p.Leu896Trp) c.2867T>G (p.Leu956Trp) c.2534T>G (p.Leu845Trp) | |
| 7 | g.117603651T= | CA1737375014 | CFTR | c.2777T= (p.Leu926=) c.*2491T= (n.*2491T=) c.2594T= (p.Leu865=) c.*1077T= (n.*1077T=) c.*2601T= (n.*2601T=) c.2351T= (p.Leu784=) c.368T= (p.Leu123=) c.427T= c.1559T= (p.Leu520=) c.2687T= (p.Leu896=) c.2867T= (p.Leu956=) c.2534T= (p.Leu845=) |