| 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.117603540_117603542del | CA2579000227 | CFTR | c.2666_2668del (p.Leu889del) c.*2380_*2382del (n.*2380_*2382del) c.2483_2485del (p.Leu828del) c.*966_*968del (n.*966_*968del) c.*2490_*2492del (n.*2490_*2492del) c.2240_2242del (p.Leu747del) c.257_259del (p.Leu86del) c.316_318del c.1448_1450del (p.Leu483del) c.2576_2578del (p.Leu859del) c.2756_2758del (p.Leu919del) c.2423_2425del (p.Leu808del) | |
| 7 | g.117603542C>A | CA368986388 | CFTR | c.2668C>A (p.Gln890Lys) c.*2382C>A (n.*2382C>A) c.2485C>A (p.Gln829Lys) c.*968C>A (n.*968C>A) c.*2492C>A (n.*2492C>A) c.2242C>A (p.Gln748Lys) c.259C>A (p.Gln87Lys) c.318C>A c.1450C>A (p.Gln484Lys) c.2578C>A (p.Gln860Lys) c.2758C>A (p.Gln920Lys) c.2425C>A (p.Gln809Lys) | |
| 7 | g.117603542C= | CA1737374421 | CFTR | c.2668C= (p.Gln890=) c.*2382C= (n.*2382C=) c.2485C= (p.Gln829=) c.*968C= (n.*968C=) c.*2492C= (n.*2492C=) c.2242C= (p.Gln748=) c.259C= (p.Gln87=) c.318C= c.1450C= (p.Gln484=) c.2578C= (p.Gln860=) c.2758C= (p.Gln920=) c.2425C= (p.Gln809=) | |
| 7 | g.117603542C>G | CA368986389 | CFTR | c.2668C>G (p.Gln890Glu) c.*2382C>G (n.*2382C>G) c.2485C>G (p.Gln829Glu) c.*968C>G (n.*968C>G) c.*2492C>G (n.*2492C>G) c.2242C>G (p.Gln748Glu) c.259C>G (p.Gln87Glu) c.318C>G c.1450C>G (p.Gln484Glu) c.2578C>G (p.Gln860Glu) c.2758C>G (p.Gln920Glu) c.2425C>G (p.Gln809Glu) | |
| 7 | g.117603542C>T | CA325590 | CFTR | c.2668C>T (p.Gln890Ter) c.*2382C>T (n.*2382C>T) c.2485C>T (p.Gln829Ter) c.*968C>T (n.*968C>T) c.*2492C>T (n.*2492C>T) c.2242C>T (p.Gln748Ter) c.259C>T (p.Gln87Ter) c.318C>T c.1450C>T (p.Gln484Ter) c.2578C>T (p.Gln860Ter) c.2758C>T (p.Gln920Ter) c.2425C>T (p.Gln809Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603543A= | CA1737374427 | CFTR | c.2669A= (p.Gln890=) c.*2383A= (n.*2383A=) c.2486A= (p.Gln829=) c.*969A= (n.*969A=) c.*2493A= (n.*2493A=) c.2243A= (p.Gln748=) c.260A= (p.Gln87=) c.319A= c.1451A= (p.Gln484=) c.2579A= (p.Gln860=) c.2759A= (p.Gln920=) c.2426A= (p.Gln809=) | |
| 7 | g.117603543A>C | CA368986390 | CFTR | c.2669A>C (p.Gln890Pro) c.*2383A>C (n.*2383A>C) c.2486A>C (p.Gln829Pro) c.*969A>C (n.*969A>C) c.*2493A>C (n.*2493A>C) c.2243A>C (p.Gln748Pro) c.260A>C (p.Gln87Pro) c.319A>C c.1451A>C (p.Gln484Pro) c.2579A>C (p.Gln860Pro) c.2759A>C (p.Gln920Pro) c.2426A>C (p.Gln809Pro) | |
| 7 | g.117603543A>G | CA326882 | CFTR | c.2669A>G (p.Gln890Arg) c.*2383A>G (n.*2383A>G) c.2486A>G (p.Gln829Arg) c.*969A>G (n.*969A>G) c.*2493A>G (n.*2493A>G) c.2243A>G (p.Gln748Arg) c.260A>G (p.Gln87Arg) c.319A>G c.1451A>G (p.Gln484Arg) c.2579A>G (p.Gln860Arg) c.2759A>G (p.Gln920Arg) c.2426A>G (p.Gln809Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603543A>T | CA368986391 | CFTR | c.2669A>T (p.Gln890Leu) c.*2383A>T (n.*2383A>T) c.2486A>T (p.Gln829Leu) c.*969A>T (n.*969A>T) c.*2493A>T (n.*2493A>T) c.2243A>T (p.Gln748Leu) c.260A>T (p.Gln87Leu) c.319A>T c.1451A>T (p.Gln484Leu) c.2579A>T (p.Gln860Leu) c.2759A>T (p.Gln920Leu) c.2426A>T (p.Gln809Leu) | |
| 7 | g.117603544A>C | CA368986392 | CFTR | c.2670A>C (p.Gln890His) c.*2384A>C (n.*2384A>C) c.2487A>C (p.Gln829His) c.*970A>C (n.*970A>C) c.*2494A>C (n.*2494A>C) c.2244A>C (p.Gln748His) c.261A>C (p.Gln87His) c.320A>C c.1452A>C (p.Gln484His) c.2580A>C (p.Gln860His) c.2760A>C (p.Gln920His) c.2427A>C (p.Gln809His) | |
| 7 | g.117603544A>G | CA457227866 | CFTR | c.2670A>G (p.Gln890=) c.*2384A>G (n.*2384A>G) c.2487A>G (p.Gln829=) c.*970A>G (n.*970A>G) c.*2494A>G (n.*2494A>G) c.2244A>G (p.Gln748=) c.261A>G (p.Gln87=) c.320A>G c.1452A>G (p.Gln484=) c.2580A>G (p.Gln860=) c.2760A>G (p.Gln920=) c.2427A>G (p.Gln809=) | |
| 7 | g.117603544A>T | CA368986393 | CFTR | c.2670A>T (p.Gln890His) c.*2384A>T (n.*2384A>T) c.2487A>T (p.Gln829His) c.*970A>T (n.*970A>T) c.*2494A>T (n.*2494A>T) c.2244A>T (p.Gln748His) c.261A>T (p.Gln87His) c.320A>T c.1452A>T (p.Gln484His) c.2580A>T (p.Gln860His) c.2760A>T (p.Gln920His) c.2427A>T (p.Gln809His) | |
| 7 | g.117603545G>A | CA4451270 | CFTR | c.2671G>A (p.Asp891Asn) c.*2385G>A (n.*2385G>A) c.2488G>A (p.Asp830Asn) c.*971G>A (n.*971G>A) c.*2495G>A (n.*2495G>A) c.2245G>A (p.Asp749Asn) c.262G>A (p.Asp88Asn) c.321G>A c.1453G>A (p.Asp485Asn) c.2581G>A (p.Asp861Asn) c.2761G>A (p.Asp921Asn) c.2428G>A (p.Asp810Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603545G>C | CA368986394 | CFTR | c.2671G>C (p.Asp891His) c.*2385G>C (n.*2385G>C) c.2488G>C (p.Asp830His) c.*971G>C (n.*971G>C) c.*2495G>C (n.*2495G>C) c.2245G>C (p.Asp749His) c.262G>C (p.Asp88His) c.321G>C c.1453G>C (p.Asp485His) c.2581G>C (p.Asp861His) c.2761G>C (p.Asp921His) c.2428G>C (p.Asp810His) | |
| 7 | g.117603545G= | CA1737374430 | CFTR | c.2671G= (p.Asp891=) c.*2385G= (n.*2385G=) c.2488G= (p.Asp830=) c.*971G= (n.*971G=) c.*2495G= (n.*2495G=) c.2245G= (p.Asp749=) c.262G= (p.Asp88=) c.321G= c.1453G= (p.Asp485=) c.2581G= (p.Asp861=) c.2761G= (p.Asp921=) c.2428G= (p.Asp810=) | |
| 7 | g.117603545G>T | CA368986395 | CFTR | c.2671G>T (p.Asp891Tyr) c.*2385G>T (n.*2385G>T) c.2488G>T (p.Asp830Tyr) c.*971G>T (n.*971G>T) c.*2495G>T (n.*2495G>T) c.2245G>T (p.Asp749Tyr) c.262G>T (p.Asp88Tyr) c.321G>T c.1453G>T (p.Asp485Tyr) c.2581G>T (p.Asp861Tyr) c.2761G>T (p.Asp921Tyr) c.2428G>T (p.Asp810Tyr) | |
| 7 | g.117603546del | CA2695208418 | CFTR | c.2672del (p.Asp891AlafsTer15) c.*2386del (n.*2386del) c.2489del (p.Asp830AlafsTer15) c.*972del (n.*972del) c.*2496del (n.*2496del) c.2246del (p.Asp749AlafsTer15) c.263del (p.Asp88AlafsTer15) c.322del c.1454del (p.Asp485AlafsTer15) c.2582del (p.Asp861AlafsTer15) c.2762del (p.Asp921AlafsTer15) c.2429del (p.Asp810AlafsTer15) | |
| 7 | g.117603546A= | CA1737374437 | CFTR | c.2672A= (p.Asp891=) c.*2386A= (n.*2386A=) c.2489A= (p.Asp830=) c.*972A= (n.*972A=) c.*2496A= (n.*2496A=) c.2246A= (p.Asp749=) c.263A= (p.Asp88=) c.322A= c.1454A= (p.Asp485=) c.2582A= (p.Asp861=) c.2762A= (p.Asp921=) c.2429A= (p.Asp810=) | |
| 7 | g.117603546A>C | CA368986396 | CFTR | c.2672A>C (p.Asp891Ala) c.*2386A>C (n.*2386A>C) c.2489A>C (p.Asp830Ala) c.*972A>C (n.*972A>C) c.*2496A>C (n.*2496A>C) c.2246A>C (p.Asp749Ala) c.263A>C (p.Asp88Ala) c.322A>C c.1454A>C (p.Asp485Ala) c.2582A>C (p.Asp861Ala) c.2762A>C (p.Asp921Ala) c.2429A>C (p.Asp810Ala) | |
| 7 | g.117603546A>G | CA4451271 | CFTR | c.2672A>G (p.Asp891Gly) c.*2386A>G (n.*2386A>G) c.2489A>G (p.Asp830Gly) c.*972A>G (n.*972A>G) c.*2496A>G (n.*2496A>G) c.2246A>G (p.Asp749Gly) c.263A>G (p.Asp88Gly) c.322A>G c.1454A>G (p.Asp485Gly) c.2582A>G (p.Asp861Gly) c.2762A>G (p.Asp921Gly) c.2429A>G (p.Asp810Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603546A>T | CA368986397 | CFTR | c.2672A>T (p.Asp891Val) c.*2386A>T (n.*2386A>T) c.2489A>T (p.Asp830Val) c.*972A>T (n.*972A>T) c.*2496A>T (n.*2496A>T) c.2246A>T (p.Asp749Val) c.263A>T (p.Asp88Val) c.322A>T c.1454A>T (p.Asp485Val) c.2582A>T (p.Asp861Val) c.2762A>T (p.Asp921Val) c.2429A>T (p.Asp810Val) | |
| 7 | g.117603547C>A | CA368986398 | CFTR | c.2673C>A (p.Asp891Glu) c.*2387C>A (n.*2387C>A) c.2490C>A (p.Asp830Glu) c.*973C>A (n.*973C>A) c.*2497C>A (n.*2497C>A) c.2247C>A (p.Asp749Glu) c.264C>A (p.Asp88Glu) c.323C>A c.1455C>A (p.Asp485Glu) c.2583C>A (p.Asp861Glu) c.2763C>A (p.Asp921Glu) c.2430C>A (p.Asp810Glu) | |
| 7 | g.117603547C= | CA1737374448 | CFTR | c.2673C= (p.Asp891=) c.*2387C= (n.*2387C=) c.2490C= (p.Asp830=) c.*973C= (n.*973C=) c.*2497C= (n.*2497C=) c.2247C= (p.Asp749=) c.264C= (p.Asp88=) c.323C= c.1455C= (p.Asp485=) c.2583C= (p.Asp861=) c.2763C= (p.Asp921=) c.2430C= (p.Asp810=) | |
| 7 | g.117603547C>G | CA368986399 | CFTR | c.2673C>G (p.Asp891Glu) c.*2387C>G (n.*2387C>G) c.2490C>G (p.Asp830Glu) c.*973C>G (n.*973C>G) c.*2497C>G (n.*2497C>G) c.2247C>G (p.Asp749Glu) c.264C>G (p.Asp88Glu) c.323C>G c.1455C>G (p.Asp485Glu) c.2583C>G (p.Asp861Glu) c.2763C>G (p.Asp921Glu) c.2430C>G (p.Asp810Glu) | ClinVar dbSNP |
| 7 | g.117603547C>T | CA4451272 | CFTR | c.2673C>T (p.Asp891=) c.*2387C>T (n.*2387C>T) c.2490C>T (p.Asp830=) c.*973C>T (n.*973C>T) c.*2497C>T (n.*2497C>T) c.2247C>T (p.Asp749=) c.264C>T (p.Asp88=) c.323C>T c.1455C>T (p.Asp485=) c.2583C>T (p.Asp861=) c.2763C>T (p.Asp921=) c.2430C>T (p.Asp810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603548A>C | CA368986400 | CFTR | c.2674A>C (p.Lys892Gln) c.*2388A>C (n.*2388A>C) c.2491A>C (p.Lys831Gln) c.*974A>C (n.*974A>C) c.*2498A>C (n.*2498A>C) c.2248A>C (p.Lys750Gln) c.265A>C (p.Lys89Gln) c.324A>C c.1456A>C (p.Lys486Gln) c.2584A>C (p.Lys862Gln) c.2764A>C (p.Lys922Gln) c.2431A>C (p.Lys811Gln) | |
| 7 | g.117603548A>G | CA368986402 | CFTR | c.2674A>G (p.Lys892Glu) c.*2388A>G (n.*2388A>G) c.2491A>G (p.Lys831Glu) c.*974A>G (n.*974A>G) c.*2498A>G (n.*2498A>G) c.2248A>G (p.Lys750Glu) c.265A>G (p.Lys89Glu) c.324A>G c.1456A>G (p.Lys486Glu) c.2584A>G (p.Lys862Glu) c.2764A>G (p.Lys922Glu) c.2431A>G (p.Lys811Glu) | |
| 7 | g.117603548A>T | CA368986401 | CFTR | c.2674A>T (p.Lys892Ter) c.*2388A>T (n.*2388A>T) c.2491A>T (p.Lys831Ter) c.*974A>T (n.*974A>T) c.*2498A>T (n.*2498A>T) c.2248A>T (p.Lys750Ter) c.265A>T (p.Lys89Ter) c.324A>T c.1456A>T (p.Lys486Ter) c.2584A>T (p.Lys862Ter) c.2764A>T (p.Lys922Ter) c.2431A>T (p.Lys811Ter) | |
| 7 | g.117603550del | CA2684587829 | CFTR | c.2676del (p.Asn894IlefsTer12) c.*2390del (n.*2390del) c.2493del (p.Asn833IlefsTer12) c.*976del (n.*976del) c.*2500del (n.*2500del) c.2250del (p.Asn752IlefsTer12) c.267del (p.Asn91IlefsTer12) c.326del c.1458del (p.Asn488IlefsTer12) c.2586del (p.Asn864IlefsTer12) c.2766del (p.Asn924IlefsTer12) c.2433del (p.Asn813IlefsTer12) | gnomAD v4 |
| 7 | g.117603549A>C | CA368986403 | CFTR | c.2675A>C (p.Lys892Thr) c.*2389A>C (n.*2389A>C) c.2492A>C (p.Lys831Thr) c.*975A>C (n.*975A>C) c.*2499A>C (n.*2499A>C) c.2249A>C (p.Lys750Thr) c.266A>C (p.Lys89Thr) c.325A>C c.1457A>C (p.Lys486Thr) c.2585A>C (p.Lys862Thr) c.2765A>C (p.Lys922Thr) c.2432A>C (p.Lys811Thr) | |
| 7 | g.117603549A>G | CA368986405 | CFTR | c.2675A>G (p.Lys892Arg) c.*2389A>G (n.*2389A>G) c.2492A>G (p.Lys831Arg) c.*975A>G (n.*975A>G) c.*2499A>G (n.*2499A>G) c.2249A>G (p.Lys750Arg) c.266A>G (p.Lys89Arg) c.325A>G c.1457A>G (p.Lys486Arg) c.2585A>G (p.Lys862Arg) c.2765A>G (p.Lys922Arg) c.2432A>G (p.Lys811Arg) | |
| 7 | g.117603549A>T | CA368986404 | CFTR | c.2675A>T (p.Lys892Ile) c.*2389A>T (n.*2389A>T) c.2492A>T (p.Lys831Ile) c.*975A>T (n.*975A>T) c.*2499A>T (n.*2499A>T) c.2249A>T (p.Lys750Ile) c.266A>T (p.Lys89Ile) c.325A>T c.1457A>T (p.Lys486Ile) c.2585A>T (p.Lys862Ile) c.2765A>T (p.Lys922Ile) c.2432A>T (p.Lys811Ile) | |
| 7 | g.117603550A>C | CA368986406 | CFTR | c.2676A>C (p.Lys892Asn) c.*2390A>C (n.*2390A>C) c.2493A>C (p.Lys831Asn) c.*976A>C (n.*976A>C) c.*2500A>C (n.*2500A>C) c.2250A>C (p.Lys750Asn) c.267A>C (p.Lys89Asn) c.326A>C c.1458A>C (p.Lys486Asn) c.2586A>C (p.Lys862Asn) c.2766A>C (p.Lys922Asn) c.2433A>C (p.Lys811Asn) | |
| 7 | g.117603550A>G | CA457227870 | CFTR | c.2676A>G (p.Lys892=) c.*2390A>G (n.*2390A>G) c.2493A>G (p.Lys831=) c.*976A>G (n.*976A>G) c.*2500A>G (n.*2500A>G) c.2250A>G (p.Lys750=) c.267A>G (p.Lys89=) c.326A>G c.1458A>G (p.Lys486=) c.2586A>G (p.Lys862=) c.2766A>G (p.Lys922=) c.2433A>G (p.Lys811=) | |
| 7 | g.117603550A>T | CA368986407 | CFTR | c.2676A>T (p.Lys892Asn) c.*2390A>T (n.*2390A>T) c.2493A>T (p.Lys831Asn) c.*976A>T (n.*976A>T) c.*2500A>T (n.*2500A>T) c.2250A>T (p.Lys750Asn) c.267A>T (p.Lys89Asn) c.326A>T c.1458A>T (p.Lys486Asn) c.2586A>T (p.Lys862Asn) c.2766A>T (p.Lys922Asn) c.2433A>T (p.Lys811Asn) | |
| 7 | g.117603551G>A | CA368986408 | CFTR | c.2677G>A (p.Gly893Arg) c.*2391G>A (n.*2391G>A) c.2494G>A (p.Gly832Arg) c.*977G>A (n.*977G>A) c.*2501G>A (n.*2501G>A) c.2251G>A (p.Gly751Arg) c.268G>A (p.Gly90Arg) c.327G>A c.1459G>A (p.Gly487Arg) c.2587G>A (p.Gly863Arg) c.2767G>A (p.Gly923Arg) c.2434G>A (p.Gly812Arg) | ClinVar dbSNP COSMIC |
| 7 | g.117603551G>C | CA368986409 | CFTR | c.2677G>C (p.Gly893Arg) c.*2391G>C (n.*2391G>C) c.2494G>C (p.Gly832Arg) c.*977G>C (n.*977G>C) c.*2501G>C (n.*2501G>C) c.2251G>C (p.Gly751Arg) c.268G>C (p.Gly90Arg) c.327G>C c.1459G>C (p.Gly487Arg) c.2587G>C (p.Gly863Arg) c.2767G>C (p.Gly923Arg) c.2434G>C (p.Gly812Arg) | |
| 7 | g.117603551G= | CA1737374458 | CFTR | c.2677G= (p.Gly893=) c.*2391G= (n.*2391G=) c.2494G= (p.Gly832=) c.*977G= (n.*977G=) c.*2501G= (n.*2501G=) c.2251G= (p.Gly751=) c.268G= (p.Gly90=) c.327G= c.1459G= (p.Gly487=) c.2587G= (p.Gly863=) c.2767G= (p.Gly923=) c.2434G= (p.Gly812=) | |
| 7 | g.117603551G>T | CA368986410 | CFTR | c.2677G>T (p.Gly893Trp) c.*2391G>T (n.*2391G>T) c.2494G>T (p.Gly832Trp) c.*977G>T (n.*977G>T) c.*2501G>T (n.*2501G>T) c.2251G>T (p.Gly751Trp) c.268G>T (p.Gly90Trp) c.327G>T c.1459G>T (p.Gly487Trp) c.2587G>T (p.Gly863Trp) c.2767G>T (p.Gly923Trp) c.2434G>T (p.Gly812Trp) | |
| 7 | g.117603552G>A | CA368986411 | CFTR | c.2678G>A (p.Gly893Glu) c.*2392G>A (n.*2392G>A) c.2495G>A (p.Gly832Glu) c.*978G>A (n.*978G>A) c.*2502G>A (n.*2502G>A) c.2252G>A (p.Gly751Glu) c.269G>A (p.Gly90Glu) c.328G>A c.1460G>A (p.Gly487Glu) c.2588G>A (p.Gly863Glu) c.2768G>A (p.Gly923Glu) c.2435G>A (p.Gly812Glu) | |
| 7 | g.117603552G>C | CA368986412 | CFTR | c.2678G>C (p.Gly893Ala) c.*2392G>C (n.*2392G>C) c.2495G>C (p.Gly832Ala) c.*978G>C (n.*978G>C) c.*2502G>C (n.*2502G>C) c.2252G>C (p.Gly751Ala) c.269G>C (p.Gly90Ala) c.328G>C c.1460G>C (p.Gly487Ala) c.2588G>C (p.Gly863Ala) c.2768G>C (p.Gly923Ala) c.2435G>C (p.Gly812Ala) | |
| 7 | g.117603552G>T | CA368986413 | CFTR | c.2678G>T (p.Gly893Val) c.*2392G>T (n.*2392G>T) c.2495G>T (p.Gly832Val) c.*978G>T (n.*978G>T) c.*2502G>T (n.*2502G>T) c.2252G>T (p.Gly751Val) c.269G>T (p.Gly90Val) c.328G>T c.1460G>T (p.Gly487Val) c.2588G>T (p.Gly863Val) c.2768G>T (p.Gly923Val) c.2435G>T (p.Gly812Val) | COSMIC |
| 7 | g.117603553G>A | CA457227872 | CFTR | c.2679G>A (p.Gly893=) c.*2393G>A (n.*2393G>A) c.2496G>A (p.Gly832=) c.*979G>A (n.*979G>A) c.*2503G>A (n.*2503G>A) c.2253G>A (p.Gly751=) c.270G>A (p.Gly90=) c.329G>A c.1461G>A (p.Gly487=) c.2589G>A (p.Gly863=) c.2769G>A (p.Gly923=) c.2436G>A (p.Gly812=) | COSMIC |
| 7 | g.117603553G>C | CA457227873 | CFTR | c.2679G>C (p.Gly893=) c.*2393G>C (n.*2393G>C) c.2496G>C (p.Gly832=) c.*979G>C (n.*979G>C) c.*2503G>C (n.*2503G>C) c.2253G>C (p.Gly751=) c.270G>C (p.Gly90=) c.329G>C c.1461G>C (p.Gly487=) c.2589G>C (p.Gly863=) c.2769G>C (p.Gly923=) c.2436G>C (p.Gly812=) | gnomAD v4 |
| 7 | g.117603553G= | CA1737374466 | CFTR | c.2679G= (p.Gly893=) c.*2393G= (n.*2393G=) c.2496G= (p.Gly832=) c.*979G= (n.*979G=) c.*2503G= (n.*2503G=) c.2253G= (p.Gly751=) c.270G= (p.Gly90=) c.329G= c.1461G= (p.Gly487=) c.2589G= (p.Gly863=) c.2769G= (p.Gly923=) c.2436G= (p.Gly812=) | |
| 7 | g.117603553G>T | CA326886 | CFTR | c.2679G>T (p.Gly893=) c.*2393G>T (n.*2393G>T) c.2496G>T (p.Gly832=) c.*979G>T (n.*979G>T) c.*2503G>T (n.*2503G>T) c.2253G>T (p.Gly751=) c.270G>T (p.Gly90=) c.329G>T c.1461G>T (p.Gly487=) c.2589G>T (p.Gly863=) c.2769G>T (p.Gly923=) c.2436G>T (p.Gly812=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 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) |