| 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.117603719C>A | CA368987219 | CFTR | c.2845C>A (p.His949Asn) c.*2559C>A (n.*2559C>A) c.2662C>A (p.His888Asn) c.*1145C>A (n.*1145C>A) c.*2669C>A (n.*2669C>A) c.2419C>A (p.His807Asn) c.436C>A (p.His146Asn) c.495C>A c.1627C>A (p.His543Asn) c.2755C>A (p.His919Asn) c.2935C>A (p.His979Asn) c.2602C>A (p.His868Asn) | |
| 7 | g.117603719C= | CA1737375325 | CFTR | c.2845C= (p.His949=) c.*2559C= (n.*2559C=) c.2662C= (p.His888=) c.*1145C= (n.*1145C=) c.*2669C= (n.*2669C=) c.2419C= (p.His807=) c.436C= (p.His146=) c.495C= c.1627C= (p.His543=) c.2755C= (p.His919=) c.2935C= (p.His979=) c.2602C= (p.His868=) | |
| 7 | g.117603719C>G | CA368987220 | CFTR | c.2845C>G (p.His949Asp) c.*2559C>G (n.*2559C>G) c.2662C>G (p.His888Asp) c.*1145C>G (n.*1145C>G) c.*2669C>G (n.*2669C>G) c.2419C>G (p.His807Asp) c.436C>G (p.His146Asp) c.495C>G c.1627C>G (p.His543Asp) c.2755C>G (p.His919Asp) c.2935C>G (p.His979Asp) c.2602C>G (p.His868Asp) | |
| 7 | g.117603719C>T | CA325595 | CFTR | c.2845C>T (p.His949Tyr) c.*2559C>T (n.*2559C>T) c.2662C>T (p.His888Tyr) c.*1145C>T (n.*1145C>T) c.*2669C>T (n.*2669C>T) c.2419C>T (p.His807Tyr) c.436C>T (p.His146Tyr) c.495C>T c.1627C>T (p.His543Tyr) c.2755C>T (p.His919Tyr) c.2935C>T (p.His979Tyr) c.2602C>T (p.His868Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603720A= | CA1737375341 | CFTR | c.2846A= (p.His949=) c.*2560A= (n.*2560A=) c.2663A= (p.His888=) c.*1146A= (n.*1146A=) c.*2670A= (n.*2670A=) c.2420A= (p.His807=) c.437A= (p.His146=) c.496A= c.1628A= (p.His543=) c.2756A= (p.His919=) c.2936A= (p.His979=) c.2603A= (p.His868=) | |
| 7 | g.117603720A>C | CA368987228 | CFTR | c.2846A>C (p.His949Pro) c.*2560A>C (n.*2560A>C) c.2663A>C (p.His888Pro) c.*1146A>C (n.*1146A>C) c.*2670A>C (n.*2670A>C) c.2420A>C (p.His807Pro) c.437A>C (p.His146Pro) c.496A>C c.1628A>C (p.His543Pro) c.2756A>C (p.His919Pro) c.2936A>C (p.His979Pro) c.2603A>C (p.His868Pro) | |
| 7 | g.117603720A>G | CA326940 | CFTR | c.2846A>G (p.His949Arg) c.*2560A>G (n.*2560A>G) c.2663A>G (p.His888Arg) c.*1146A>G (n.*1146A>G) c.*2670A>G (n.*2670A>G) c.2420A>G (p.His807Arg) c.437A>G (p.His146Arg) c.496A>G c.1628A>G (p.His543Arg) c.2756A>G (p.His919Arg) c.2936A>G (p.His979Arg) c.2603A>G (p.His868Arg) | ClinVar dbSNP |
| 7 | g.117603720A>T | CA326942 | CFTR | c.2846A>T (p.His949Leu) c.*2560A>T (n.*2560A>T) c.2663A>T (p.His888Leu) c.*1146A>T (n.*1146A>T) c.*2670A>T (n.*2670A>T) c.2420A>T (p.His807Leu) c.437A>T (p.His146Leu) c.496A>T c.1628A>T (p.His543Leu) c.2756A>T (p.His919Leu) c.2936A>T (p.His979Leu) c.2603A>T (p.His868Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603721C>A | CA368987239 | CFTR | c.2847C>A (p.His949Gln) c.*2561C>A (n.*2561C>A) c.2664C>A (p.His888Gln) c.*1147C>A (n.*1147C>A) c.*2671C>A (n.*2671C>A) c.2421C>A (p.His807Gln) c.438C>A (p.His146Gln) c.497C>A c.1629C>A (p.His543Gln) c.2757C>A (p.His919Gln) c.2937C>A (p.His979Gln) c.2604C>A (p.His868Gln) | gnomAD v4 |
| 7 | g.117603721C= | CA1737375350 | CFTR | c.2847C= (p.His949=) c.*2561C= (n.*2561C=) c.2664C= (p.His888=) c.*1147C= (n.*1147C=) c.*2671C= (n.*2671C=) c.2421C= (p.His807=) c.438C= (p.His146=) c.497C= c.1629C= (p.His543=) c.2757C= (p.His919=) c.2937C= (p.His979=) c.2604C= (p.His868=) | |
| 7 | g.117603721C>G | CA368987241 | CFTR | c.2847C>G (p.His949Gln) c.*2561C>G (n.*2561C>G) c.2664C>G (p.His888Gln) c.*1147C>G (n.*1147C>G) c.*2671C>G (n.*2671C>G) c.2421C>G (p.His807Gln) c.438C>G (p.His146Gln) c.497C>G c.1629C>G (p.His543Gln) c.2757C>G (p.His919Gln) c.2937C>G (p.His979Gln) c.2604C>G (p.His868Gln) | gnomAD v4 |
| 7 | g.117603721C>T | CA4451298 | CFTR | c.2847C>T (p.His949=) c.*2561C>T (n.*2561C>T) c.2664C>T (p.His888=) c.*1147C>T (n.*1147C>T) c.*2671C>T (n.*2671C>T) c.2421C>T (p.His807=) c.438C>T (p.His146=) c.497C>T c.1629C>T (p.His543=) c.2757C>T (p.His919=) c.2937C>T (p.His979=) c.2604C>T (p.His868=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603722del | CA2573052804 | CFTR | c.2848del (p.His950ThrfsTer18) c.*2562del (n.*2562del) c.2665del (p.His889ThrfsTer18) c.*1148del (n.*1148del) c.*2672del (n.*2672del) c.2422del (p.His808ThrfsTer18) c.439del (p.His147ThrfsTer18) c.498del c.1630del (p.His544ThrfsTer18) c.2758del (p.His920ThrfsTer18) c.2938del (p.His980ThrfsTer18) c.2605del (p.His869ThrfsTer18) | ClinVar dbSNP |
| 7 | g.117603722C>A | CA368987244 | CFTR | c.2848C>A (p.His950Asn) c.*2562C>A (n.*2562C>A) c.2665C>A (p.His889Asn) c.*1148C>A (n.*1148C>A) c.*2672C>A (n.*2672C>A) c.2422C>A (p.His808Asn) c.439C>A (p.His147Asn) c.498C>A c.1630C>A (p.His544Asn) c.2758C>A (p.His920Asn) c.2938C>A (p.His980Asn) c.2605C>A (p.His869Asn) | |
| 7 | g.117603722C>G | CA368987248 | CFTR | c.2848C>G (p.His950Asp) c.*2562C>G (n.*2562C>G) c.2665C>G (p.His889Asp) c.*1148C>G (n.*1148C>G) c.*2672C>G (n.*2672C>G) c.2422C>G (p.His808Asp) c.439C>G (p.His147Asp) c.498C>G c.1630C>G (p.His544Asp) c.2758C>G (p.His920Asp) c.2938C>G (p.His980Asp) c.2605C>G (p.His869Asp) | |
| 7 | g.117603722C>T | CA368987253 | CFTR | c.2848C>T (p.His950Tyr) c.*2562C>T (n.*2562C>T) c.2665C>T (p.His889Tyr) c.*1148C>T (n.*1148C>T) c.*2672C>T (n.*2672C>T) c.2422C>T (p.His808Tyr) c.439C>T (p.His147Tyr) c.498C>T c.1630C>T (p.His544Tyr) c.2758C>T (p.His920Tyr) c.2938C>T (p.His980Tyr) c.2605C>T (p.His869Tyr) | ClinVar |
| 7 | g.117603722_117603723insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA | CA2684587832 | CFTR | c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His950ProfsTer39) c.*2562_*2563insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (n.*2562_*2563insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA) c.2665_2666insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His889ProfsTer39) c.*1148_*1149insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (n.*1148_*1149insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA) c.*2672_*2673insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (n.*2672_*2673insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA) c.2422_2423insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His808ProfsTer39) c.439_440insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His147ProfsTer39) c.498_499insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA c.1630_1631insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His544ProfsTer39) c.2758_2759insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His920ProfsTer39) c.2938_2939insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His980ProfsTer39) c.2605_2606insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA (p.His869ProfsTer39) | gnomAD v4 |
| 7 | g.117603723A= | CA1737375354 | CFTR | c.2849A= (p.His950=) c.*2563A= (n.*2563A=) c.2666A= (p.His889=) c.*1149A= (n.*1149A=) c.*2673A= (n.*2673A=) c.2423A= (p.His808=) c.440A= (p.His147=) c.499A= c.1631A= (p.His544=) c.2759A= (p.His920=) c.2939A= (p.His980=) c.2606A= (p.His869=) | |
| 7 | g.117603723A>C | CA368987256 | CFTR | c.2849A>C (p.His950Pro) c.*2563A>C (n.*2563A>C) c.2666A>C (p.His889Pro) c.*1149A>C (n.*1149A>C) c.*2673A>C (n.*2673A>C) c.2423A>C (p.His808Pro) c.440A>C (p.His147Pro) c.499A>C c.1631A>C (p.His544Pro) c.2759A>C (p.His920Pro) c.2939A>C (p.His980Pro) c.2606A>C (p.His869Pro) | |
| 7 | g.117603723A>G | CA368987258 | CFTR | c.2849A>G (p.His950Arg) c.*2563A>G (n.*2563A>G) c.2666A>G (p.His889Arg) c.*1149A>G (n.*1149A>G) c.*2673A>G (n.*2673A>G) c.2423A>G (p.His808Arg) c.440A>G (p.His147Arg) c.499A>G c.1631A>G (p.His544Arg) c.2759A>G (p.His920Arg) c.2939A>G (p.His980Arg) c.2606A>G (p.His869Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603723A>T | CA368987261 | CFTR | c.2849A>T (p.His950Leu) c.*2563A>T (n.*2563A>T) c.2666A>T (p.His889Leu) c.*1149A>T (n.*1149A>T) c.*2673A>T (n.*2673A>T) c.2423A>T (p.His808Leu) c.440A>T (p.His147Leu) c.499A>T c.1631A>T (p.His544Leu) c.2759A>T (p.His920Leu) c.2939A>T (p.His980Leu) c.2606A>T (p.His869Leu) | |
| 7 | g.117603724C>A | CA368987267 | CFTR | c.2850C>A (p.His950Gln) c.*2564C>A (n.*2564C>A) c.2667C>A (p.His889Gln) c.*1150C>A (n.*1150C>A) c.*2674C>A (n.*2674C>A) c.2424C>A (p.His808Gln) c.441C>A (p.His147Gln) c.500C>A c.1632C>A (p.His544Gln) c.2760C>A (p.His920Gln) c.2940C>A (p.His980Gln) c.2607C>A (p.His869Gln) | |
| 7 | g.117603724C>G | CA368987265 | CFTR | c.2850C>G (p.His950Gln) c.*2564C>G (n.*2564C>G) c.2667C>G (p.His889Gln) c.*1150C>G (n.*1150C>G) c.*2674C>G (n.*2674C>G) c.2424C>G (p.His808Gln) c.441C>G (p.His147Gln) c.500C>G c.1632C>G (p.His544Gln) c.2760C>G (p.His920Gln) c.2940C>G (p.His980Gln) c.2607C>G (p.His869Gln) | gnomAD v4 |
| 7 | g.117603724C>T | CA457228017 | CFTR | c.2850C>T (p.His950=) c.*2564C>T (n.*2564C>T) c.2667C>T (p.His889=) c.*1150C>T (n.*1150C>T) c.*2674C>T (n.*2674C>T) c.2424C>T (p.His808=) c.441C>T (p.His147=) c.500C>T c.1632C>T (p.His544=) c.2760C>T (p.His920=) c.2940C>T (p.His980=) c.2607C>T (p.His869=) | ClinVar |
| 7 | g.117603724_117603725delinsCA | CA1737375359 | CFTR | c.2850_2851delinsCA (p.His950=) c.*2564_*2565delinsCA (n.*2564_*2565delinsCA) c.2667_2668delinsCA (p.His889=) c.*1150_*1151delinsCA (n.*1150_*1151delinsCA) c.*2674_*2675delinsCA (n.*2674_*2675delinsCA) c.2424_2425delinsCA (p.His808=) c.441_442delinsCA (p.His147=) c.500_501delinsCA c.1632_1633delinsCA (p.His544=) c.2760_2761delinsCA (p.His920=) c.2940_2941delinsCA (p.His980=) c.2607_2608delinsCA (p.His869=) | |
| 7 | g.117603725A= | CA1737375370 | CFTR | c.2851A= (p.Lys951=) c.*2565A= (n.*2565A=) c.2668A= (p.Lys890=) c.*1151A= (n.*1151A=) c.*2675A= (n.*2675A=) c.2425A= (p.Lys809=) c.442A= (p.Lys148=) c.501A= c.1633A= (p.Lys545=) c.2761A= (p.Lys921=) c.2941A= (p.Lys981=) c.2608A= (p.Lys870=) | |
| 7 | g.117603725A>C | CA368987268 | CFTR | c.2851A>C (p.Lys951Gln) c.*2565A>C (n.*2565A>C) c.2668A>C (p.Lys890Gln) c.*1151A>C (n.*1151A>C) c.*2675A>C (n.*2675A>C) c.2425A>C (p.Lys809Gln) c.442A>C (p.Lys148Gln) c.501A>C c.1633A>C (p.Lys545Gln) c.2761A>C (p.Lys921Gln) c.2941A>C (p.Lys981Gln) c.2608A>C (p.Lys870Gln) | gnomAD v4 |
| 7 | g.117603725A>G | CA4451299 | CFTR | c.2851A>G (p.Lys951Glu) c.*2565A>G (n.*2565A>G) c.2668A>G (p.Lys890Glu) c.*1151A>G (n.*1151A>G) c.*2675A>G (n.*2675A>G) c.2425A>G (p.Lys809Glu) c.442A>G (p.Lys148Glu) c.501A>G c.1633A>G (p.Lys545Glu) c.2761A>G (p.Lys921Glu) c.2941A>G (p.Lys981Glu) c.2608A>G (p.Lys870Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603725A>T | CA368987269 | CFTR | c.2851A>T (p.Lys951Ter) c.*2565A>T (n.*2565A>T) c.2668A>T (p.Lys890Ter) c.*1151A>T (n.*1151A>T) c.*2675A>T (n.*2675A>T) c.2425A>T (p.Lys809Ter) c.442A>T (p.Lys148Ter) c.501A>T c.1633A>T (p.Lys545Ter) c.2761A>T (p.Lys921Ter) c.2941A>T (p.Lys981Ter) c.2608A>T (p.Lys870Ter) | gnomAD v4 |
| 7 | g.117603728del | CA16041134 | CFTR | c.2854del (p.Met952CysfsTer16) c.*2568del (n.*2568del) c.2671del (p.Met891CysfsTer16) c.*1154del (n.*1154del) c.*2678del (n.*2678del) c.2428del (p.Met810CysfsTer16) c.445del (p.Met149CysfsTer16) c.504del c.1636del (p.Met546CysfsTer16) c.2764del (p.Met922CysfsTer16) c.2944del (p.Met982CysfsTer16) c.2611del (p.Met871CysfsTer16) | ClinVar dbSNP |
| 7 | g.117603726A= | CA1737375376 | CFTR | c.2852A= (p.Lys951=) c.*2566A= (n.*2566A=) c.2669A= (p.Lys890=) c.*1152A= (n.*1152A=) c.*2676A= (n.*2676A=) c.2426A= (p.Lys809=) c.443A= (p.Lys148=) c.502A= c.1634A= (p.Lys545=) c.2762A= (p.Lys921=) c.2942A= (p.Lys981=) c.2609A= (p.Lys870=) | |
| 7 | g.117603726A>C | CA368987275 | CFTR | c.2852A>C (p.Lys951Thr) c.*2566A>C (n.*2566A>C) c.2669A>C (p.Lys890Thr) c.*1152A>C (n.*1152A>C) c.*2676A>C (n.*2676A>C) c.2426A>C (p.Lys809Thr) c.443A>C (p.Lys148Thr) c.502A>C c.1634A>C (p.Lys545Thr) c.2762A>C (p.Lys921Thr) c.2942A>C (p.Lys981Thr) c.2609A>C (p.Lys870Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603726A>G | CA368987296 | CFTR | c.2852A>G (p.Lys951Arg) c.*2566A>G (n.*2566A>G) c.2669A>G (p.Lys890Arg) c.*1152A>G (n.*1152A>G) c.*2676A>G (n.*2676A>G) c.2426A>G (p.Lys809Arg) c.443A>G (p.Lys148Arg) c.502A>G c.1634A>G (p.Lys545Arg) c.2762A>G (p.Lys921Arg) c.2942A>G (p.Lys981Arg) c.2609A>G (p.Lys870Arg) | |
| 7 | g.117603726A>T | CA368987298 | CFTR | c.2852A>T (p.Lys951Ile) c.*2566A>T (n.*2566A>T) c.2669A>T (p.Lys890Ile) c.*1152A>T (n.*1152A>T) c.*2676A>T (n.*2676A>T) c.2426A>T (p.Lys809Ile) c.443A>T (p.Lys148Ile) c.502A>T c.1634A>T (p.Lys545Ile) c.2762A>T (p.Lys921Ile) c.2942A>T (p.Lys981Ile) c.2609A>T (p.Lys870Ile) | |
| 7 | g.117603727A>C | CA368987302 | CFTR | c.2853A>C (p.Lys951Asn) c.*2567A>C (n.*2567A>C) c.2670A>C (p.Lys890Asn) c.*1153A>C (n.*1153A>C) c.*2677A>C (n.*2677A>C) c.2427A>C (p.Lys809Asn) c.444A>C (p.Lys148Asn) c.503A>C c.1635A>C (p.Lys545Asn) c.2763A>C (p.Lys921Asn) c.2943A>C (p.Lys981Asn) c.2610A>C (p.Lys870Asn) | |
| 7 | g.117603727A>G | CA457228018 | CFTR | c.2853A>G (p.Lys951=) c.*2567A>G (n.*2567A>G) c.2670A>G (p.Lys890=) c.*1153A>G (n.*1153A>G) c.*2677A>G (n.*2677A>G) c.2427A>G (p.Lys809=) c.444A>G (p.Lys148=) c.503A>G c.1635A>G (p.Lys545=) c.2763A>G (p.Lys921=) c.2943A>G (p.Lys981=) c.2610A>G (p.Lys870=) | |
| 7 | g.117603727A>T | CA368987304 | CFTR | c.2853A>T (p.Lys951Asn) c.*2567A>T (n.*2567A>T) c.2670A>T (p.Lys890Asn) c.*1153A>T (n.*1153A>T) c.*2677A>T (n.*2677A>T) c.2427A>T (p.Lys809Asn) c.444A>T (p.Lys148Asn) c.503A>T c.1635A>T (p.Lys545Asn) c.2763A>T (p.Lys921Asn) c.2943A>T (p.Lys981Asn) c.2610A>T (p.Lys870Asn) | |
| 7 | g.117603728A>C | CA368987309 | CFTR | c.2854A>C (p.Met952Leu) c.*2568A>C (n.*2568A>C) c.2671A>C (p.Met891Leu) c.*1154A>C (n.*1154A>C) c.*2678A>C (n.*2678A>C) c.2428A>C (p.Met810Leu) c.445A>C (p.Met149Leu) c.504A>C c.1636A>C (p.Met546Leu) c.2764A>C (p.Met922Leu) c.2944A>C (p.Met982Leu) c.2611A>C (p.Met871Leu) | |
| 7 | g.117603728A>G | CA368987312 | CFTR | c.2854A>G (p.Met952Val) c.*2568A>G (n.*2568A>G) c.2671A>G (p.Met891Val) c.*1154A>G (n.*1154A>G) c.*2678A>G (n.*2678A>G) c.2428A>G (p.Met810Val) c.445A>G (p.Met149Val) c.504A>G c.1636A>G (p.Met546Val) c.2764A>G (p.Met922Val) c.2944A>G (p.Met982Val) c.2611A>G (p.Met871Val) | ClinVar gnomAD v4 |
| 7 | g.117603728A>T | CA368987317 | CFTR | c.2854A>T (p.Met952Leu) c.*2568A>T (n.*2568A>T) c.2671A>T (p.Met891Leu) c.*1154A>T (n.*1154A>T) c.*2678A>T (n.*2678A>T) c.2428A>T (p.Met810Leu) c.445A>T (p.Met149Leu) c.504A>T c.1636A>T (p.Met546Leu) c.2764A>T (p.Met922Leu) c.2944A>T (p.Met982Leu) c.2611A>T (p.Met871Leu) | |
| 7 | g.117603729T>A | CA368987320 | CFTR | c.2855T>A (p.Met952Lys) c.*2569T>A (n.*2569T>A) c.2672T>A (p.Met891Lys) c.*1155T>A (n.*1155T>A) c.*2679T>A (n.*2679T>A) c.2429T>A (p.Met810Lys) c.446T>A (p.Met149Lys) c.505T>A c.1637T>A (p.Met546Lys) c.2765T>A (p.Met922Lys) c.2945T>A (p.Met982Lys) c.2612T>A (p.Met871Lys) | |
| 7 | g.117603729T>C | CA326944 | CFTR | c.2855T>C (p.Met952Thr) c.*2569T>C (n.*2569T>C) c.2672T>C (p.Met891Thr) c.*1155T>C (n.*1155T>C) c.*2679T>C (n.*2679T>C) c.2429T>C (p.Met810Thr) c.446T>C (p.Met149Thr) c.505T>C c.1637T>C (p.Met546Thr) c.2765T>C (p.Met922Thr) c.2945T>C (p.Met982Thr) c.2612T>C (p.Met871Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603729T>G | CA368987324 | CFTR | c.2855T>G (p.Met952Arg) c.*2569T>G (n.*2569T>G) c.2672T>G (p.Met891Arg) c.*1155T>G (n.*1155T>G) c.*2679T>G (n.*2679T>G) c.2429T>G (p.Met810Arg) c.446T>G (p.Met149Arg) c.505T>G c.1637T>G (p.Met546Arg) c.2765T>G (p.Met922Arg) c.2945T>G (p.Met982Arg) c.2612T>G (p.Met871Arg) | ClinVar |
| 7 | g.117603729T= | CA1737375381 | CFTR | c.2855T= (p.Met952=) c.*2569T= (n.*2569T=) c.2672T= (p.Met891=) c.*1155T= (n.*1155T=) c.*2679T= (n.*2679T=) c.2429T= (p.Met810=) c.446T= (p.Met149=) c.505T= c.1637T= (p.Met546=) c.2765T= (p.Met922=) c.2945T= (p.Met982=) c.2612T= (p.Met871=) | |
| 7 | g.117603730G>A | CA4451300 | CFTR | c.2856G>A (p.Met952Ile) c.*2570G>A (n.*2570G>A) c.2673G>A (p.Met891Ile) c.*1156G>A (n.*1156G>A) c.*2680G>A (n.*2680G>A) c.2430G>A (p.Met810Ile) c.447G>A (p.Met149Ile) c.506G>A c.1638G>A (p.Met546Ile) c.2766G>A (p.Met922Ile) c.2946G>A (p.Met982Ile) c.2613G>A (p.Met871Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603730G>C | CA326946 | CFTR | c.2856G>C (p.Met952Ile) c.*2570G>C (n.*2570G>C) c.2673G>C (p.Met891Ile) c.*1156G>C (n.*1156G>C) c.*2680G>C (n.*2680G>C) c.2430G>C (p.Met810Ile) c.447G>C (p.Met149Ile) c.506G>C c.1638G>C (p.Met546Ile) c.2766G>C (p.Met922Ile) c.2946G>C (p.Met982Ile) c.2613G>C (p.Met871Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603730G= | CA1737375395 | CFTR | c.2856G= (p.Met952=) c.*2570G= (n.*2570G=) c.2673G= (p.Met891=) c.*1156G= (n.*1156G=) c.*2680G= (n.*2680G=) c.2430G= (p.Met810=) c.447G= (p.Met149=) c.506G= c.1638G= (p.Met546=) c.2766G= (p.Met922=) c.2946G= (p.Met982=) c.2613G= (p.Met871=) | |
| 7 | g.117603730G>T | CA368987334 | CFTR | c.2856G>T (p.Met952Ile) c.*2570G>T (n.*2570G>T) c.2673G>T (p.Met891Ile) c.*1156G>T (n.*1156G>T) c.*2680G>T (n.*2680G>T) c.2430G>T (p.Met810Ile) c.447G>T (p.Met149Ile) c.506G>T c.1638G>T (p.Met546Ile) c.2766G>T (p.Met922Ile) c.2946G>T (p.Met982Ile) c.2613G>T (p.Met871Ile) | ClinVar |