| 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.117603554A>C | CA368986414 | CFTR | c.2680A>C (p.Asn894His) c.*2394A>C (n.*2394A>C) c.2497A>C (p.Asn833His) c.*980A>C (n.*980A>C) c.*2504A>C (n.*2504A>C) c.2254A>C (p.Asn752His) c.271A>C (p.Asn91His) c.330A>C c.1462A>C (p.Asn488His) c.2590A>C (p.Asn864His) c.2770A>C (p.Asn924His) c.2437A>C (p.Asn813His) | |
| 7 | g.117603554A>G | CA368986415 | CFTR | c.2680A>G (p.Asn894Asp) c.*2394A>G (n.*2394A>G) c.2497A>G (p.Asn833Asp) c.*980A>G (n.*980A>G) c.*2504A>G (n.*2504A>G) c.2254A>G (p.Asn752Asp) c.271A>G (p.Asn91Asp) c.330A>G c.1462A>G (p.Asn488Asp) c.2590A>G (p.Asn864Asp) c.2770A>G (p.Asn924Asp) c.2437A>G (p.Asn813Asp) | |
| 7 | g.117603554A>T | CA368986416 | CFTR | c.2680A>T (p.Asn894Tyr) c.*2394A>T (n.*2394A>T) c.2497A>T (p.Asn833Tyr) c.*980A>T (n.*980A>T) c.*2504A>T (n.*2504A>T) c.2254A>T (p.Asn752Tyr) c.271A>T (p.Asn91Tyr) c.330A>T c.1462A>T (p.Asn488Tyr) c.2590A>T (p.Asn864Tyr) c.2770A>T (p.Asn924Tyr) c.2437A>T (p.Asn813Tyr) | |
| 7 | g.117603555A= | CA1737374475 | CFTR | c.2681A= (p.Asn894=) c.*2395A= (n.*2395A=) c.2498A= (p.Asn833=) c.*981A= (n.*981A=) c.*2505A= (n.*2505A=) c.2255A= (p.Asn752=) c.272A= (p.Asn91=) c.331A= c.1463A= (p.Asn488=) c.2591A= (p.Asn864=) c.2771A= (p.Asn924=) c.2438A= (p.Asn813=) | |
| 7 | g.117603555A>C | CA368986419 | CFTR | c.2681A>C (p.Asn894Thr) c.*2395A>C (n.*2395A>C) c.2498A>C (p.Asn833Thr) c.*981A>C (n.*981A>C) c.*2505A>C (n.*2505A>C) c.2255A>C (p.Asn752Thr) c.272A>C (p.Asn91Thr) c.331A>C c.1463A>C (p.Asn488Thr) c.2591A>C (p.Asn864Thr) c.2771A>C (p.Asn924Thr) c.2438A>C (p.Asn813Thr) | ClinVar dbSNP |
| 7 | g.117603555A>G | CA368986417 | CFTR | c.2681A>G (p.Asn894Ser) c.*2395A>G (n.*2395A>G) c.2498A>G (p.Asn833Ser) c.*981A>G (n.*981A>G) c.*2505A>G (n.*2505A>G) c.2255A>G (p.Asn752Ser) c.272A>G (p.Asn91Ser) c.331A>G c.1463A>G (p.Asn488Ser) c.2591A>G (p.Asn864Ser) c.2771A>G (p.Asn924Ser) c.2438A>G (p.Asn813Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603555A>T | CA368986418 | CFTR | c.2681A>T (p.Asn894Ile) c.*2395A>T (n.*2395A>T) c.2498A>T (p.Asn833Ile) c.*981A>T (n.*981A>T) c.*2505A>T (n.*2505A>T) c.2255A>T (p.Asn752Ile) c.272A>T (p.Asn91Ile) c.331A>T c.1463A>T (p.Asn488Ile) c.2591A>T (p.Asn864Ile) c.2771A>T (p.Asn924Ile) c.2438A>T (p.Asn813Ile) | |
| 7 | g.117603556T>A | CA368986420 | CFTR | c.2682T>A (p.Asn894Lys) c.*2396T>A (n.*2396T>A) c.2499T>A (p.Asn833Lys) c.*982T>A (n.*982T>A) c.*2506T>A (n.*2506T>A) c.2256T>A (p.Asn752Lys) c.273T>A (p.Asn91Lys) c.332T>A c.1464T>A (p.Asn488Lys) c.2592T>A (p.Asn864Lys) c.2772T>A (p.Asn924Lys) c.2439T>A (p.Asn813Lys) | |
| 7 | g.117603556T>C | CA457227874 | CFTR | c.2682T>C (p.Asn894=) c.*2396T>C (n.*2396T>C) c.2499T>C (p.Asn833=) c.*982T>C (n.*982T>C) c.*2506T>C (n.*2506T>C) c.2256T>C (p.Asn752=) c.273T>C (p.Asn91=) c.332T>C c.1464T>C (p.Asn488=) c.2592T>C (p.Asn864=) c.2772T>C (p.Asn924=) c.2439T>C (p.Asn813=) | |
| 7 | g.117603556T>G | CA368986421 | CFTR | c.2682T>G (p.Asn894Lys) c.*2396T>G (n.*2396T>G) c.2499T>G (p.Asn833Lys) c.*982T>G (n.*982T>G) c.*2506T>G (n.*2506T>G) c.2256T>G (p.Asn752Lys) c.273T>G (p.Asn91Lys) c.332T>G c.1464T>G (p.Asn488Lys) c.2592T>G (p.Asn864Lys) c.2772T>G (p.Asn924Lys) c.2439T>G (p.Asn813Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603556T= | CA1737374477 | CFTR | c.2682T= (p.Asn894=) c.*2396T= (n.*2396T=) c.2499T= (p.Asn833=) c.*982T= (n.*982T=) c.*2506T= (n.*2506T=) c.2256T= (p.Asn752=) c.273T= (p.Asn91=) c.332T= c.1464T= (p.Asn488=) c.2592T= (p.Asn864=) c.2772T= (p.Asn924=) c.2439T= (p.Asn813=) | |
| 7 | g.117603557A= | CA1737374479 | CFTR | c.2683A= (p.Ser895=) c.*2397A= (n.*2397A=) c.2500A= (p.Ser834=) c.*983A= (n.*983A=) c.*2507A= (n.*2507A=) c.2257A= (p.Ser753=) c.274A= (p.Ser92=) c.333A= c.1465A= (p.Ser489=) c.2593A= (p.Ser865=) c.2773A= (p.Ser925=) c.2440A= (p.Ser814=) | |
| 7 | g.117603557A>C | CA368986422 | CFTR | c.2683A>C (p.Ser895Arg) c.*2397A>C (n.*2397A>C) c.2500A>C (p.Ser834Arg) c.*983A>C (n.*983A>C) c.*2507A>C (n.*2507A>C) c.2257A>C (p.Ser753Arg) c.274A>C (p.Ser92Arg) c.333A>C c.1465A>C (p.Ser489Arg) c.2593A>C (p.Ser865Arg) c.2773A>C (p.Ser925Arg) c.2440A>C (p.Ser814Arg) | gnomAD v4 |
| 7 | g.117603557A>G | CA368986423 | CFTR | c.2683A>G (p.Ser895Gly) c.*2397A>G (n.*2397A>G) c.2500A>G (p.Ser834Gly) c.*983A>G (n.*983A>G) c.*2507A>G (n.*2507A>G) c.2257A>G (p.Ser753Gly) c.274A>G (p.Ser92Gly) c.333A>G c.1465A>G (p.Ser489Gly) c.2593A>G (p.Ser865Gly) c.2773A>G (p.Ser925Gly) c.2440A>G (p.Ser814Gly) | ClinVar dbSNP |
| 7 | g.117603557A>T | CA368986424 | CFTR | c.2683A>T (p.Ser895Cys) c.*2397A>T (n.*2397A>T) c.2500A>T (p.Ser834Cys) c.*983A>T (n.*983A>T) c.*2507A>T (n.*2507A>T) c.2257A>T (p.Ser753Cys) c.274A>T (p.Ser92Cys) c.333A>T c.1465A>T (p.Ser489Cys) c.2593A>T (p.Ser865Cys) c.2773A>T (p.Ser925Cys) c.2440A>T (p.Ser814Cys) | |
| 7 | g.117603558G>A | CA326888 | CFTR | c.2684G>A (p.Ser895Asn) c.*2398G>A (n.*2398G>A) c.2501G>A (p.Ser834Asn) c.*984G>A (n.*984G>A) c.*2508G>A (n.*2508G>A) c.2258G>A (p.Ser753Asn) c.275G>A (p.Ser92Asn) c.334G>A c.1466G>A (p.Ser489Asn) c.2594G>A (p.Ser865Asn) c.2774G>A (p.Ser925Asn) c.2441G>A (p.Ser814Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603558G>C | CA4451273 | CFTR | c.2684G>C (p.Ser895Thr) c.*2398G>C (n.*2398G>C) c.2501G>C (p.Ser834Thr) c.*984G>C (n.*984G>C) c.*2508G>C (n.*2508G>C) c.2258G>C (p.Ser753Thr) c.275G>C (p.Ser92Thr) c.334G>C c.1466G>C (p.Ser489Thr) c.2594G>C (p.Ser865Thr) c.2774G>C (p.Ser925Thr) c.2441G>C (p.Ser814Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603558G= | CA1737374486 | CFTR | c.2684G= (p.Ser895=) c.*2398G= (n.*2398G=) c.2501G= (p.Ser834=) c.*984G= (n.*984G=) c.*2508G= (n.*2508G=) c.2258G= (p.Ser753=) c.275G= (p.Ser92=) c.334G= c.1466G= (p.Ser489=) c.2594G= (p.Ser865=) c.2774G= (p.Ser925=) c.2441G= (p.Ser814=) | |
| 7 | g.117603558G>T | CA368986425 | CFTR | c.2684G>T (p.Ser895Ile) c.*2398G>T (n.*2398G>T) c.2501G>T (p.Ser834Ile) c.*984G>T (n.*984G>T) c.*2508G>T (n.*2508G>T) c.2258G>T (p.Ser753Ile) c.275G>T (p.Ser92Ile) c.334G>T c.1466G>T (p.Ser489Ile) c.2594G>T (p.Ser865Ile) c.2774G>T (p.Ser925Ile) c.2441G>T (p.Ser814Ile) | |
| 7 | g.117603559T>A | CA368986426 | CFTR | c.2685T>A (p.Ser895Arg) c.*2399T>A (n.*2399T>A) c.2502T>A (p.Ser834Arg) c.*985T>A (n.*985T>A) c.*2509T>A (n.*2509T>A) c.2259T>A (p.Ser753Arg) c.276T>A (p.Ser92Arg) c.335T>A c.1467T>A (p.Ser489Arg) c.2595T>A (p.Ser865Arg) c.2775T>A (p.Ser925Arg) c.2442T>A (p.Ser814Arg) | |
| 7 | g.117603559T>C | CA457227876 | CFTR | c.2685T>C (p.Ser895=) c.*2399T>C (n.*2399T>C) c.2502T>C (p.Ser834=) c.*985T>C (n.*985T>C) c.*2509T>C (n.*2509T>C) c.2259T>C (p.Ser753=) c.276T>C (p.Ser92=) c.335T>C c.1467T>C (p.Ser489=) c.2595T>C (p.Ser865=) c.2775T>C (p.Ser925=) c.2442T>C (p.Ser814=) | COSMIC |
| 7 | g.117603559T>G | CA368986427 | CFTR | c.2685T>G (p.Ser895Arg) c.*2399T>G (n.*2399T>G) c.2502T>G (p.Ser834Arg) c.*985T>G (n.*985T>G) c.*2509T>G (n.*2509T>G) c.2259T>G (p.Ser753Arg) c.276T>G (p.Ser92Arg) c.335T>G c.1467T>G (p.Ser489Arg) c.2595T>G (p.Ser865Arg) c.2775T>G (p.Ser925Arg) c.2442T>G (p.Ser814Arg) | |
| 7 | g.117603560A>C | CA368986430 | CFTR | c.2686A>C (p.Thr896Pro) c.*2400A>C (n.*2400A>C) c.2503A>C (p.Thr835Pro) c.*986A>C (n.*986A>C) c.*2510A>C (n.*2510A>C) c.2260A>C (p.Thr754Pro) c.277A>C (p.Thr93Pro) c.336A>C c.1468A>C (p.Thr490Pro) c.2596A>C (p.Thr866Pro) c.2776A>C (p.Thr926Pro) c.2443A>C (p.Thr815Pro) | |
| 7 | g.117603560A>G | CA368986429 | CFTR | c.2686A>G (p.Thr896Ala) c.*2400A>G (n.*2400A>G) c.2503A>G (p.Thr835Ala) c.*986A>G (n.*986A>G) c.*2510A>G (n.*2510A>G) c.2260A>G (p.Thr754Ala) c.277A>G (p.Thr93Ala) c.336A>G c.1468A>G (p.Thr490Ala) c.2596A>G (p.Thr866Ala) c.2776A>G (p.Thr926Ala) c.2443A>G (p.Thr815Ala) | |
| 7 | g.117603560A>T | CA368986428 | CFTR | c.2686A>T (p.Thr896Ser) c.*2400A>T (n.*2400A>T) c.2503A>T (p.Thr835Ser) c.*986A>T (n.*986A>T) c.*2510A>T (n.*2510A>T) c.2260A>T (p.Thr754Ser) c.277A>T (p.Thr93Ser) c.336A>T c.1468A>T (p.Thr490Ser) c.2596A>T (p.Thr866Ser) c.2776A>T (p.Thr926Ser) c.2443A>T (p.Thr815Ser) | |
| 7 | g.117603560_117603564delinsACTCA | CA1737374498 | CFTR | c.2686_2690delinsACTCA (p.Thr896=) c.*2400_*2404delinsACTCA (n.*2400_*2404delinsACTCA) c.2503_2507delinsACTCA (p.Thr835=) c.*986_*990delinsACTCA (n.*986_*990delinsACTCA) c.*2510_*2514delinsACTCA (n.*2510_*2514delinsACTCA) c.2260_2264delinsACTCA (p.Thr754=) c.277_281delinsACTCA (p.Thr93=) c.336_340delinsACTCA c.1468_1472delinsACTCA (p.Thr490=) c.2596_2600delinsACTCA (p.Thr866=) c.2776_2780delinsACTCA (p.Thr926=) c.2443_2447delinsACTCA (p.Thr815=) | |
| 7 | g.117603561del | CA2579000228 | CFTR | c.2687del (p.Thr896IlefsTer10) c.*2401del (n.*2401del) c.2504del (p.Thr835IlefsTer10) c.*987del (n.*987del) c.*2511del (n.*2511del) c.2261del (p.Thr754IlefsTer10) c.278del (p.Thr93IlefsTer10) c.337del c.1469del (p.Thr490IlefsTer10) c.2597del (p.Thr866IlefsTer10) c.2777del (p.Thr926IlefsTer10) c.2444del (p.Thr815IlefsTer10) | |
| 7 | g.117603561C>A | CA368986431 | CFTR | c.2687C>A (p.Thr896Asn) c.*2401C>A (n.*2401C>A) c.2504C>A (p.Thr835Asn) c.*987C>A (n.*987C>A) c.*2511C>A (n.*2511C>A) c.2261C>A (p.Thr754Asn) c.278C>A (p.Thr93Asn) c.337C>A c.1469C>A (p.Thr490Asn) c.2597C>A (p.Thr866Asn) c.2777C>A (p.Thr926Asn) c.2444C>A (p.Thr815Asn) | |
| 7 | g.117603561C= | CA1737374506 | CFTR | c.2687C= (p.Thr896=) c.*2401C= (n.*2401C=) c.2504C= (p.Thr835=) c.*987C= (n.*987C=) c.*2511C= (n.*2511C=) c.2261C= (p.Thr754=) c.278C= (p.Thr93=) c.337C= c.1469C= (p.Thr490=) c.2597C= (p.Thr866=) c.2777C= (p.Thr926=) c.2444C= (p.Thr815=) | |
| 7 | g.117603561C>G | CA368986432 | CFTR | c.2687C>G (p.Thr896Ser) c.*2401C>G (n.*2401C>G) c.2504C>G (p.Thr835Ser) c.*987C>G (n.*987C>G) c.*2511C>G (n.*2511C>G) c.2261C>G (p.Thr754Ser) c.278C>G (p.Thr93Ser) c.337C>G c.1469C>G (p.Thr490Ser) c.2597C>G (p.Thr866Ser) c.2777C>G (p.Thr926Ser) c.2444C>G (p.Thr815Ser) | |
| 7 | g.117603561C>T | CA4451274 | CFTR | c.2687C>T (p.Thr896Ile) c.*2401C>T (n.*2401C>T) c.2504C>T (p.Thr835Ile) c.*987C>T (n.*987C>T) c.*2511C>T (n.*2511C>T) c.2261C>T (p.Thr754Ile) c.278C>T (p.Thr93Ile) c.337C>T c.1469C>T (p.Thr490Ile) c.2597C>T (p.Thr866Ile) c.2777C>T (p.Thr926Ile) c.2444C>T (p.Thr815Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603561_117603564delinsTGAGTACTATGAG | CA326890 | CFTR | c.2687_2690delinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer) c.*2401_*2404delinsTGAGTACTATGAG (n.*2401_*2404delinsTGAGTACTATGAG) c.2504_2507delinsTGAGTACTATGAG (p.Thr835_His836delinsMetSerThrMetSer) c.*987_*990delinsTGAGTACTATGAG (n.*987_*990delinsTGAGTACTATGAG) c.*2511_*2514delinsTGAGTACTATGAG (n.*2511_*2514delinsTGAGTACTATGAG) c.2261_2264delinsTGAGTACTATGAG (p.Thr754_His755delinsMetSerThrMetSer) c.278_281delinsTGAGTACTATGAG (p.Thr93_His94delinsMetSerThrMetSer) c.337_340delinsTGAGTACTATGAG c.1469_1472delinsTGAGTACTATGAG (p.Thr490_His491delinsMetSerThrMetSer) c.2597_2600delinsTGAGTACTATGAG (p.Thr866_His867delinsMetSerThrMetSer) c.2777_2780delinsTGAGTACTATGAG (p.Thr926_His927delinsMetSerThrMetSer) c.2444_2447delinsTGAGTACTATGAG (p.Thr815_His816delinsMetSerThrMetSer) | ClinVar dbSNP |
| 7 | g.117603562T>A | CA457227879 | CFTR | c.2688T>A (p.Thr896=) c.*2402T>A (n.*2402T>A) c.2505T>A (p.Thr835=) c.*988T>A (n.*988T>A) c.*2512T>A (n.*2512T>A) c.2262T>A (p.Thr754=) c.279T>A (p.Thr93=) c.338T>A c.1470T>A (p.Thr490=) c.2598T>A (p.Thr866=) c.2778T>A (p.Thr926=) c.2445T>A (p.Thr815=) | |
| 7 | g.117603562T>C | CA457227880 | CFTR | c.2688T>C (p.Thr896=) c.*2402T>C (n.*2402T>C) c.2505T>C (p.Thr835=) c.*988T>C (n.*988T>C) c.*2512T>C (n.*2512T>C) c.2262T>C (p.Thr754=) c.279T>C (p.Thr93=) c.338T>C c.1470T>C (p.Thr490=) c.2598T>C (p.Thr866=) c.2778T>C (p.Thr926=) c.2445T>C (p.Thr815=) | |
| 7 | g.117603562T>G | CA457227881 | CFTR | c.2688T>G (p.Thr896=) c.*2402T>G (n.*2402T>G) c.2505T>G (p.Thr835=) c.*988T>G (n.*988T>G) c.*2512T>G (n.*2512T>G) c.2262T>G (p.Thr754=) c.279T>G (p.Thr93=) c.338T>G c.1470T>G (p.Thr490=) c.2598T>G (p.Thr866=) c.2778T>G (p.Thr926=) c.2445T>G (p.Thr815=) | |
| 7 | g.117603563C>A | CA368986433 | CFTR | c.2689C>A (p.His897Asn) c.*2403C>A (n.*2403C>A) c.2506C>A (p.His836Asn) c.*989C>A (n.*989C>A) c.*2513C>A (n.*2513C>A) c.2263C>A (p.His755Asn) c.280C>A (p.His94Asn) c.339C>A c.1471C>A (p.His491Asn) c.2599C>A (p.His867Asn) c.2779C>A (p.His927Asn) c.2446C>A (p.His816Asn) | |
| 7 | g.117603563C= | CA1737374515 | CFTR | c.2689C= (p.His897=) c.*2403C= (n.*2403C=) c.2506C= (p.His836=) c.*989C= (n.*989C=) c.*2513C= (n.*2513C=) c.2263C= (p.His755=) c.280C= (p.His94=) c.339C= c.1471C= (p.His491=) c.2599C= (p.His867=) c.2779C= (p.His927=) c.2446C= (p.His816=) | |
| 7 | g.117603563C>G | CA368986434 | CFTR | c.2689C>G (p.His897Asp) c.*2403C>G (n.*2403C>G) c.2506C>G (p.His836Asp) c.*989C>G (n.*989C>G) c.*2513C>G (n.*2513C>G) c.2263C>G (p.His755Asp) c.280C>G (p.His94Asp) c.339C>G c.1471C>G (p.His491Asp) c.2599C>G (p.His867Asp) c.2779C>G (p.His927Asp) c.2446C>G (p.His816Asp) | |
| 7 | g.117603563C>T | CA4451275 | CFTR | c.2689C>T (p.His897Tyr) c.*2403C>T (n.*2403C>T) c.2506C>T (p.His836Tyr) c.*989C>T (n.*989C>T) c.*2513C>T (n.*2513C>T) c.2263C>T (p.His755Tyr) c.280C>T (p.His94Tyr) c.339C>T c.1471C>T (p.His491Tyr) c.2599C>T (p.His867Tyr) c.2779C>T (p.His927Tyr) c.2446C>T (p.His816Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603564A>C | CA368986435 | CFTR | c.2690A>C (p.His897Pro) c.*2404A>C (n.*2404A>C) c.2507A>C (p.His836Pro) c.*990A>C (n.*990A>C) c.*2514A>C (n.*2514A>C) c.2264A>C (p.His755Pro) c.281A>C (p.His94Pro) c.340A>C c.1472A>C (p.His491Pro) c.2600A>C (p.His867Pro) c.2780A>C (p.His927Pro) c.2447A>C (p.His816Pro) | |
| 7 | g.117603564A>G | CA368986436 | CFTR | c.2690A>G (p.His897Arg) c.*2404A>G (n.*2404A>G) c.2507A>G (p.His836Arg) c.*990A>G (n.*990A>G) c.*2514A>G (n.*2514A>G) c.2264A>G (p.His755Arg) c.281A>G (p.His94Arg) c.340A>G c.1472A>G (p.His491Arg) c.2600A>G (p.His867Arg) c.2780A>G (p.His927Arg) c.2447A>G (p.His816Arg) | gnomAD v4 |
| 7 | g.117603564A>T | CA368986437 | CFTR | c.2690A>T (p.His897Leu) c.*2404A>T (n.*2404A>T) c.2507A>T (p.His836Leu) c.*990A>T (n.*990A>T) c.*2514A>T (n.*2514A>T) c.2264A>T (p.His755Leu) c.281A>T (p.His94Leu) c.340A>T c.1472A>T (p.His491Leu) c.2600A>T (p.His867Leu) c.2780A>T (p.His927Leu) c.2447A>T (p.His816Leu) | |
| 7 | g.117603564_117603565insGTACTATGAG | CA2579000229 | CFTR | c.2690_2691insGTACTATGAG (p.His897GlnfsTer5) c.*2404_*2405insGTACTATGAG (n.*2404_*2405insGTACTATGAG) c.2507_2508insGTACTATGAG (p.His836GlnfsTer5) c.*990_*991insGTACTATGAG (n.*990_*991insGTACTATGAG) c.*2514_*2515insGTACTATGAG (n.*2514_*2515insGTACTATGAG) c.2264_2265insGTACTATGAG (p.His755GlnfsTer5) c.281_282insGTACTATGAG (p.His94GlnfsTer5) c.340_341insGTACTATGAG c.1472_1473insGTACTATGAG (p.His491GlnfsTer5) c.2600_2601insGTACTATGAG (p.His867GlnfsTer5) c.2780_2781insGTACTATGAG (p.His927GlnfsTer5) c.2447_2448insGTACTATGAG (p.His816GlnfsTer5) | |
| 7 | g.117603565T>A | CA368986438 | CFTR | c.2691T>A (p.His897Gln) c.*2405T>A (n.*2405T>A) c.2508T>A (p.His836Gln) c.*991T>A (n.*991T>A) c.*2515T>A (n.*2515T>A) c.2265T>A (p.His755Gln) c.282T>A (p.His94Gln) c.341T>A c.1473T>A (p.His491Gln) c.2601T>A (p.His867Gln) c.2781T>A (p.His927Gln) c.2448T>A (p.His816Gln) | |
| 7 | g.117603565T>C | CA457227884 | CFTR | c.2691T>C (p.His897=) c.*2405T>C (n.*2405T>C) c.2508T>C (p.His836=) c.*991T>C (n.*991T>C) c.*2515T>C (n.*2515T>C) c.2265T>C (p.His755=) c.282T>C (p.His94=) c.341T>C c.1473T>C (p.His491=) c.2601T>C (p.His867=) c.2781T>C (p.His927=) c.2448T>C (p.His816=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603565T>G | CA368986439 | CFTR | c.2691T>G (p.His897Gln) c.*2405T>G (n.*2405T>G) c.2508T>G (p.His836Gln) c.*991T>G (n.*991T>G) c.*2515T>G (n.*2515T>G) c.2265T>G (p.His755Gln) c.282T>G (p.His94Gln) c.341T>G c.1473T>G (p.His491Gln) c.2601T>G (p.His867Gln) c.2781T>G (p.His927Gln) c.2448T>G (p.His816Gln) | |
| 7 | g.117603565T= | CA1737374520 | CFTR | c.2691T= (p.His897=) c.*2405T= (n.*2405T=) c.2508T= (p.His836=) c.*991T= (n.*991T=) c.*2515T= (n.*2515T=) c.2265T= (p.His755=) c.282T= (p.His94=) c.341T= c.1473T= (p.His491=) c.2601T= (p.His867=) c.2781T= (p.His927=) c.2448T= (p.His816=) | |
| 7 | g.117603566A= | CA1737374525 | CFTR | c.2692A= (p.Ser898=) c.*2406A= (n.*2406A=) c.2509A= (p.Ser837=) c.*992A= (n.*992A=) c.*2516A= (n.*2516A=) c.2266A= (p.Ser756=) c.283A= (p.Ser95=) c.342A= c.1474A= (p.Ser492=) c.2602A= (p.Ser868=) c.2782A= (p.Ser928=) c.2449A= (p.Ser817=) |