| 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.117603585C>A | CA368986487 | CFTR | c.2711C>A (p.Ala904Glu) c.*2425C>A (n.*2425C>A) c.2528C>A (p.Ala843Glu) c.*1011C>A (n.*1011C>A) c.*2535C>A (n.*2535C>A) c.2285C>A (p.Ala762Glu) c.302C>A (p.Ala101Glu) c.361C>A c.1493C>A (p.Ala498Glu) c.2621C>A (p.Ala874Glu) c.2801C>A (p.Ala934Glu) c.2468C>A (p.Ala823Glu) | |
| 7 | g.117603585C= | CA1737374590 | CFTR | c.2711C= (p.Ala904=) c.*2425C= (n.*2425C=) c.2528C= (p.Ala843=) c.*1011C= (n.*1011C=) c.*2535C= (n.*2535C=) c.2285C= (p.Ala762=) c.302C= (p.Ala101=) c.361C= c.1493C= (p.Ala498=) c.2621C= (p.Ala874=) c.2801C= (p.Ala934=) c.2468C= (p.Ala823=) | |
| 7 | g.117603585C>G | CA368986488 | CFTR | c.2711C>G (p.Ala904Gly) c.*2425C>G (n.*2425C>G) c.2528C>G (p.Ala843Gly) c.*1011C>G (n.*1011C>G) c.*2535C>G (n.*2535C>G) c.2285C>G (p.Ala762Gly) c.302C>G (p.Ala101Gly) c.361C>G c.1493C>G (p.Ala498Gly) c.2621C>G (p.Ala874Gly) c.2801C>G (p.Ala934Gly) c.2468C>G (p.Ala823Gly) | |
| 7 | g.117603585C>T | CA368986486 | CFTR | c.2711C>T (p.Ala904Val) c.*2425C>T (n.*2425C>T) c.2528C>T (p.Ala843Val) c.*1011C>T (n.*1011C>T) c.*2535C>T (n.*2535C>T) c.2285C>T (p.Ala762Val) c.302C>T (p.Ala101Val) c.361C>T c.1493C>T (p.Ala498Val) c.2621C>T (p.Ala874Val) c.2801C>T (p.Ala934Val) c.2468C>T (p.Ala823Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603586A>C | CA457227925 | CFTR | c.2712A>C (p.Ala904=) c.*2426A>C (n.*2426A>C) c.2529A>C (p.Ala843=) c.*1012A>C (n.*1012A>C) c.*2536A>C (n.*2536A>C) c.2286A>C (p.Ala762=) c.303A>C (p.Ala101=) c.362A>C c.1494A>C (p.Ala498=) c.2622A>C (p.Ala874=) c.2802A>C (p.Ala934=) c.2469A>C (p.Ala823=) | |
| 7 | g.117603586A>G | CA457227926 | CFTR | c.2712A>G (p.Ala904=) c.*2426A>G (n.*2426A>G) c.2529A>G (p.Ala843=) c.*1012A>G (n.*1012A>G) c.*2536A>G (n.*2536A>G) c.2286A>G (p.Ala762=) c.303A>G (p.Ala101=) c.362A>G c.1494A>G (p.Ala498=) c.2622A>G (p.Ala874=) c.2802A>G (p.Ala934=) c.2469A>G (p.Ala823=) | |
| 7 | g.117603586A>T | CA457227927 | CFTR | c.2712A>T (p.Ala904=) c.*2426A>T (n.*2426A>T) c.2529A>T (p.Ala843=) c.*1012A>T (n.*1012A>T) c.*2536A>T (n.*2536A>T) c.2286A>T (p.Ala762=) c.303A>T (p.Ala101=) c.362A>T c.1494A>T (p.Ala498=) c.2622A>T (p.Ala874=) c.2802A>T (p.Ala934=) c.2469A>T (p.Ala823=) | |
| 7 | g.117603587G>A | CA368986489 | CFTR | c.2713G>A (p.Val905Met) c.*2427G>A (n.*2427G>A) c.2530G>A (p.Val844Met) c.*1013G>A (n.*1013G>A) c.*2537G>A (n.*2537G>A) c.2287G>A (p.Val763Met) c.304G>A (p.Val102Met) c.363G>A c.1495G>A (p.Val499Met) c.2623G>A (p.Val875Met) c.2803G>A (p.Val935Met) c.2470G>A (p.Val824Met) | |
| 7 | g.117603587G>C | CA164960001 | CFTR | c.2713G>C (p.Val905Leu) c.*2427G>C (n.*2427G>C) c.2530G>C (p.Val844Leu) c.*1013G>C (n.*1013G>C) c.*2537G>C (n.*2537G>C) c.2287G>C (p.Val763Leu) c.304G>C (p.Val102Leu) c.363G>C c.1495G>C (p.Val499Leu) c.2623G>C (p.Val875Leu) c.2803G>C (p.Val935Leu) c.2470G>C (p.Val824Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603587G= | CA1737374594 | CFTR | c.2713G= (p.Val905=) c.*2427G= (n.*2427G=) c.2530G= (p.Val844=) c.*1013G= (n.*1013G=) c.*2537G= (n.*2537G=) c.2287G= (p.Val763=) c.304G= (p.Val102=) c.363G= c.1495G= (p.Val499=) c.2623G= (p.Val875=) c.2803G= (p.Val935=) c.2470G= (p.Val824=) | |
| 7 | g.117603587G>T | CA368986490 | CFTR | c.2713G>T (p.Val905Leu) c.*2427G>T (n.*2427G>T) c.2530G>T (p.Val844Leu) c.*1013G>T (n.*1013G>T) c.*2537G>T (n.*2537G>T) c.2287G>T (p.Val763Leu) c.304G>T (p.Val102Leu) c.363G>T c.1495G>T (p.Val499Leu) c.2623G>T (p.Val875Leu) c.2803G>T (p.Val935Leu) c.2470G>T (p.Val824Leu) | |
| 7 | g.117603588T>A | CA368986491 | CFTR | c.2714T>A (p.Val905Glu) c.*2428T>A (n.*2428T>A) c.2531T>A (p.Val844Glu) c.*1014T>A (n.*1014T>A) c.*2538T>A (n.*2538T>A) c.2288T>A (p.Val763Glu) c.305T>A (p.Val102Glu) c.364T>A c.1496T>A (p.Val499Glu) c.2624T>A (p.Val875Glu) c.2804T>A (p.Val935Glu) c.2471T>A (p.Val824Glu) | |
| 7 | g.117603588T>C | CA368986492 | CFTR | c.2714T>C (p.Val905Ala) c.*2428T>C (n.*2428T>C) c.2531T>C (p.Val844Ala) c.*1014T>C (n.*1014T>C) c.*2538T>C (n.*2538T>C) c.2288T>C (p.Val763Ala) c.305T>C (p.Val102Ala) c.364T>C c.1496T>C (p.Val499Ala) c.2624T>C (p.Val875Ala) c.2804T>C (p.Val935Ala) c.2471T>C (p.Val824Ala) | |
| 7 | g.117603588T>G | CA368986493 | CFTR | c.2714T>G (p.Val905Gly) c.*2428T>G (n.*2428T>G) c.2531T>G (p.Val844Gly) c.*1014T>G (n.*1014T>G) c.*2538T>G (n.*2538T>G) c.2288T>G (p.Val763Gly) c.305T>G (p.Val102Gly) c.364T>G c.1496T>G (p.Val499Gly) c.2624T>G (p.Val875Gly) c.2804T>G (p.Val935Gly) c.2471T>G (p.Val824Gly) | |
| 7 | g.117603589G>A | CA457227928 | CFTR | c.2715G>A (p.Val905=) c.*2429G>A (n.*2429G>A) c.2532G>A (p.Val844=) c.*1015G>A (n.*1015G>A) c.*2539G>A (n.*2539G>A) c.2289G>A (p.Val763=) c.306G>A (p.Val102=) c.365G>A c.1497G>A (p.Val499=) c.2625G>A (p.Val875=) c.2805G>A (p.Val935=) c.2472G>A (p.Val824=) | ClinVar |
| 7 | g.117603589G>C | CA457227929 | CFTR | c.2715G>C (p.Val905=) c.*2429G>C (n.*2429G>C) c.2532G>C (p.Val844=) c.*1015G>C (n.*1015G>C) c.*2539G>C (n.*2539G>C) c.2289G>C (p.Val763=) c.306G>C (p.Val102=) c.365G>C c.1497G>C (p.Val499=) c.2625G>C (p.Val875=) c.2805G>C (p.Val935=) c.2472G>C (p.Val824=) | |
| 7 | g.117603589G>T | CA457227930 | CFTR | c.2715G>T (p.Val905=) c.*2429G>T (n.*2429G>T) c.2532G>T (p.Val844=) c.*1015G>T (n.*1015G>T) c.*2539G>T (n.*2539G>T) c.2289G>T (p.Val763=) c.306G>T (p.Val102=) c.365G>T c.1497G>T (p.Val499=) c.2625G>T (p.Val875=) c.2805G>T (p.Val935=) c.2472G>T (p.Val824=) | |
| 7 | g.117603590A>C | CA368986494 | CFTR | c.2716A>C (p.Ile906Leu) c.*2430A>C (n.*2430A>C) c.2533A>C (p.Ile845Leu) c.*1016A>C (n.*1016A>C) c.*2540A>C (n.*2540A>C) c.2290A>C (p.Ile764Leu) c.307A>C (p.Ile103Leu) c.366A>C c.1498A>C (p.Ile500Leu) c.2626A>C (p.Ile876Leu) c.2806A>C (p.Ile936Leu) c.2473A>C (p.Ile825Leu) | |
| 7 | g.117603590A>G | CA368986495 | CFTR | c.2716A>G (p.Ile906Val) c.*2430A>G (n.*2430A>G) c.2533A>G (p.Ile845Val) c.*1016A>G (n.*1016A>G) c.*2540A>G (n.*2540A>G) c.2290A>G (p.Ile764Val) c.307A>G (p.Ile103Val) c.366A>G c.1498A>G (p.Ile500Val) c.2626A>G (p.Ile876Val) c.2806A>G (p.Ile936Val) c.2473A>G (p.Ile825Val) | |
| 7 | g.117603590A>T | CA368986496 | CFTR | c.2716A>T (p.Ile906Phe) c.*2430A>T (n.*2430A>T) c.2533A>T (p.Ile845Phe) c.*1016A>T (n.*1016A>T) c.*2540A>T (n.*2540A>T) c.2290A>T (p.Ile764Phe) c.307A>T (p.Ile103Phe) c.366A>T c.1498A>T (p.Ile500Phe) c.2626A>T (p.Ile876Phe) c.2806A>T (p.Ile936Phe) c.2473A>T (p.Ile825Phe) | |
| 7 | g.117603591T>A | CA368986497 | CFTR | c.2717T>A (p.Ile906Asn) c.*2431T>A (n.*2431T>A) c.2534T>A (p.Ile845Asn) c.*1017T>A (n.*1017T>A) c.*2541T>A (n.*2541T>A) c.2291T>A (p.Ile764Asn) c.308T>A (p.Ile103Asn) c.367T>A c.1499T>A (p.Ile500Asn) c.2627T>A (p.Ile876Asn) c.2807T>A (p.Ile936Asn) c.2474T>A (p.Ile825Asn) | ClinVar |
| 7 | g.117603591T>C | CA368986498 | CFTR | c.2717T>C (p.Ile906Thr) c.*2431T>C (n.*2431T>C) c.2534T>C (p.Ile845Thr) c.*1017T>C (n.*1017T>C) c.*2541T>C (n.*2541T>C) c.2291T>C (p.Ile764Thr) c.308T>C (p.Ile103Thr) c.367T>C c.1499T>C (p.Ile500Thr) c.2627T>C (p.Ile876Thr) c.2807T>C (p.Ile936Thr) c.2474T>C (p.Ile825Thr) | gnomAD v4 |
| 7 | g.117603591T>G | CA368986499 | CFTR | c.2717T>G (p.Ile906Ser) c.*2431T>G (n.*2431T>G) c.2534T>G (p.Ile845Ser) c.*1017T>G (n.*1017T>G) c.*2541T>G (n.*2541T>G) c.2291T>G (p.Ile764Ser) c.308T>G (p.Ile103Ser) c.367T>G c.1499T>G (p.Ile500Ser) c.2627T>G (p.Ile876Ser) c.2807T>G (p.Ile936Ser) c.2474T>G (p.Ile825Ser) | gnomAD v4 |
| 7 | g.117603592T>A | CA457227931 | CFTR | c.2718T>A (p.Ile906=) c.*2432T>A (n.*2432T>A) c.2535T>A (p.Ile845=) c.*1018T>A (n.*1018T>A) c.*2542T>A (n.*2542T>A) c.2292T>A (p.Ile764=) c.309T>A (p.Ile103=) c.368T>A c.1500T>A (p.Ile500=) c.2628T>A (p.Ile876=) c.2808T>A (p.Ile936=) c.2475T>A (p.Ile825=) | |
| 7 | g.117603592T>C | CA457227932 | CFTR | c.2718T>C (p.Ile906=) c.*2432T>C (n.*2432T>C) c.2535T>C (p.Ile845=) c.*1018T>C (n.*1018T>C) c.*2542T>C (n.*2542T>C) c.2292T>C (p.Ile764=) c.309T>C (p.Ile103=) c.368T>C c.1500T>C (p.Ile500=) c.2628T>C (p.Ile876=) c.2808T>C (p.Ile936=) c.2475T>C (p.Ile825=) | |
| 7 | g.117603592T>G | CA368986500 | CFTR | c.2718T>G (p.Ile906Met) c.*2432T>G (n.*2432T>G) c.2535T>G (p.Ile845Met) c.*1018T>G (n.*1018T>G) c.*2542T>G (n.*2542T>G) c.2292T>G (p.Ile764Met) c.309T>G (p.Ile103Met) c.368T>G c.1500T>G (p.Ile500Met) c.2628T>G (p.Ile876Met) c.2808T>G (p.Ile936Met) c.2475T>G (p.Ile825Met) | gnomAD v4 |
| 7 | g.117603593A= | CA1737374597 | CFTR | c.2719A= (p.Ile907=) c.*2433A= (n.*2433A=) c.2536A= (p.Ile846=) c.*1019A= (n.*1019A=) c.*2543A= (n.*2543A=) c.2293A= (p.Ile765=) c.310A= (p.Ile104=) c.369A= c.1501A= (p.Ile501=) c.2629A= (p.Ile877=) c.2809A= (p.Ile937=) c.2476A= (p.Ile826=) | |
| 7 | g.117603593A>C | CA368986501 | CFTR | c.2719A>C (p.Ile907Leu) c.*2433A>C (n.*2433A>C) c.2536A>C (p.Ile846Leu) c.*1019A>C (n.*1019A>C) c.*2543A>C (n.*2543A>C) c.2293A>C (p.Ile765Leu) c.310A>C (p.Ile104Leu) c.369A>C c.1501A>C (p.Ile501Leu) c.2629A>C (p.Ile877Leu) c.2809A>C (p.Ile937Leu) c.2476A>C (p.Ile826Leu) | |
| 7 | g.117603593A>G | CA326896 | CFTR | c.2719A>G (p.Ile907Val) c.*2433A>G (n.*2433A>G) c.2536A>G (p.Ile846Val) c.*1019A>G (n.*1019A>G) c.*2543A>G (n.*2543A>G) c.2293A>G (p.Ile765Val) c.310A>G (p.Ile104Val) c.369A>G c.1501A>G (p.Ile501Val) c.2629A>G (p.Ile877Val) c.2809A>G (p.Ile937Val) c.2476A>G (p.Ile826Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603593A>T | CA368986502 | CFTR | c.2719A>T (p.Ile907Phe) c.*2433A>T (n.*2433A>T) c.2536A>T (p.Ile846Phe) c.*1019A>T (n.*1019A>T) c.*2543A>T (n.*2543A>T) c.2293A>T (p.Ile765Phe) c.310A>T (p.Ile104Phe) c.369A>T c.1501A>T (p.Ile501Phe) c.2629A>T (p.Ile877Phe) c.2809A>T (p.Ile937Phe) c.2476A>T (p.Ile826Phe) | |
| 7 | g.117603594T>A | CA368986503 | CFTR | c.2720T>A (p.Ile907Asn) c.*2434T>A (n.*2434T>A) c.2537T>A (p.Ile846Asn) c.*1020T>A (n.*1020T>A) c.*2544T>A (n.*2544T>A) c.2294T>A (p.Ile765Asn) c.311T>A (p.Ile104Asn) c.370T>A c.1502T>A (p.Ile501Asn) c.2630T>A (p.Ile877Asn) c.2810T>A (p.Ile937Asn) c.2477T>A (p.Ile826Asn) | ClinVar |
| 7 | g.117603594T>C | CA368986504 | CFTR | c.2720T>C (p.Ile907Thr) c.*2434T>C (n.*2434T>C) c.2537T>C (p.Ile846Thr) c.*1020T>C (n.*1020T>C) c.*2544T>C (n.*2544T>C) c.2294T>C (p.Ile765Thr) c.311T>C (p.Ile104Thr) c.370T>C c.1502T>C (p.Ile501Thr) c.2630T>C (p.Ile877Thr) c.2810T>C (p.Ile937Thr) c.2477T>C (p.Ile826Thr) | |
| 7 | g.117603594T>G | CA4451278 | CFTR | c.2720T>G (p.Ile907Ser) c.*2434T>G (n.*2434T>G) c.2537T>G (p.Ile846Ser) c.*1020T>G (n.*1020T>G) c.*2544T>G (n.*2544T>G) c.2294T>G (p.Ile765Ser) c.311T>G (p.Ile104Ser) c.370T>G c.1502T>G (p.Ile501Ser) c.2630T>G (p.Ile877Ser) c.2810T>G (p.Ile937Ser) c.2477T>G (p.Ile826Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603594T= | CA1737374601 | CFTR | c.2720T= (p.Ile907=) c.*2434T= (n.*2434T=) c.2537T= (p.Ile846=) c.*1020T= (n.*1020T=) c.*2544T= (n.*2544T=) c.2294T= (p.Ile765=) c.311T= (p.Ile104=) c.370T= c.1502T= (p.Ile501=) c.2630T= (p.Ile877=) c.2810T= (p.Ile937=) c.2477T= (p.Ile826=) | |
| 7 | g.117603595C>A | CA457227933 | CFTR | c.2721C>A (p.Ile907=) c.*2435C>A (n.*2435C>A) c.2538C>A (p.Ile846=) c.*1021C>A (n.*1021C>A) c.*2545C>A (n.*2545C>A) c.2295C>A (p.Ile765=) c.312C>A (p.Ile104=) c.371C>A c.1503C>A (p.Ile501=) c.2631C>A (p.Ile877=) c.2811C>A (p.Ile937=) c.2478C>A (p.Ile826=) | |
| 7 | g.117603595C= | CA1737374606 | CFTR | c.2721C= (p.Ile907=) c.*2435C= (n.*2435C=) c.2538C= (p.Ile846=) c.*1021C= (n.*1021C=) c.*2545C= (n.*2545C=) c.2295C= (p.Ile765=) c.312C= (p.Ile104=) c.371C= c.1503C= (p.Ile501=) c.2631C= (p.Ile877=) c.2811C= (p.Ile937=) c.2478C= (p.Ile826=) | |
| 7 | g.117603595C>G | CA368986505 | CFTR | c.2721C>G (p.Ile907Met) c.*2435C>G (n.*2435C>G) c.2538C>G (p.Ile846Met) c.*1021C>G (n.*1021C>G) c.*2545C>G (n.*2545C>G) c.2295C>G (p.Ile765Met) c.312C>G (p.Ile104Met) c.371C>G c.1503C>G (p.Ile501Met) c.2631C>G (p.Ile877Met) c.2811C>G (p.Ile937Met) c.2478C>G (p.Ile826Met) | |
| 7 | g.117603595C>T | CA457227934 | CFTR | c.2721C>T (p.Ile907=) c.*2435C>T (n.*2435C>T) c.2538C>T (p.Ile846=) c.*1021C>T (n.*1021C>T) c.*2545C>T (n.*2545C>T) c.2295C>T (p.Ile765=) c.312C>T (p.Ile104=) c.371C>T c.1503C>T (p.Ile501=) c.2631C>T (p.Ile877=) c.2811C>T (p.Ile937=) c.2478C>T (p.Ile826=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117603597_117603599del | CA1139573579 | CFTR | c.2723_2725del (p.Thr908del) c.*2437_*2439del (n.*2437_*2439del) c.2540_2542del (p.Thr847del) c.*1023_*1025del (n.*1023_*1025del) c.*2547_*2549del (n.*2547_*2549del) c.2297_2299del (p.Thr766del) c.314_316del (p.Thr105del) c.373_375del c.1505_1507del (p.Thr502del) c.2633_2635del (p.Thr878del) c.2813_2815del (p.Thr938del) c.2480_2482del (p.Thr827del) | |
| 7 | g.117603596A>C | CA368986506 | CFTR | c.2722A>C (p.Thr908Pro) c.*2436A>C (n.*2436A>C) c.2539A>C (p.Thr847Pro) c.*1022A>C (n.*1022A>C) c.*2546A>C (n.*2546A>C) c.2296A>C (p.Thr766Pro) c.313A>C (p.Thr105Pro) c.372A>C c.1504A>C (p.Thr502Pro) c.2632A>C (p.Thr878Pro) c.2812A>C (p.Thr938Pro) c.2479A>C (p.Thr827Pro) | |
| 7 | g.117603596A>G | CA368986507 | CFTR | c.2722A>G (p.Thr908Ala) c.*2436A>G (n.*2436A>G) c.2539A>G (p.Thr847Ala) c.*1022A>G (n.*1022A>G) c.*2546A>G (n.*2546A>G) c.2296A>G (p.Thr766Ala) c.313A>G (p.Thr105Ala) c.372A>G c.1504A>G (p.Thr502Ala) c.2632A>G (p.Thr878Ala) c.2812A>G (p.Thr938Ala) c.2479A>G (p.Thr827Ala) | |
| 7 | g.117603596A>T | CA368986508 | CFTR | c.2722A>T (p.Thr908Ser) c.*2436A>T (n.*2436A>T) c.2539A>T (p.Thr847Ser) c.*1022A>T (n.*1022A>T) c.*2546A>T (n.*2546A>T) c.2296A>T (p.Thr766Ser) c.313A>T (p.Thr105Ser) c.372A>T c.1504A>T (p.Thr502Ser) c.2632A>T (p.Thr878Ser) c.2812A>T (p.Thr938Ser) c.2479A>T (p.Thr827Ser) | |
| 7 | g.117603597C>A | CA326898 | CFTR | c.2723C>A (p.Thr908Asn) c.*2437C>A (n.*2437C>A) c.2540C>A (p.Thr847Asn) c.*1023C>A (n.*1023C>A) c.*2547C>A (n.*2547C>A) c.2297C>A (p.Thr766Asn) c.314C>A (p.Thr105Asn) c.373C>A c.1505C>A (p.Thr502Asn) c.2633C>A (p.Thr878Asn) c.2813C>A (p.Thr938Asn) c.2480C>A (p.Thr827Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603597C= | CA1737374616 | CFTR | c.2723C= (p.Thr908=) c.*2437C= (n.*2437C=) c.2540C= (p.Thr847=) c.*1023C= (n.*1023C=) c.*2547C= (n.*2547C=) c.2297C= (p.Thr766=) c.314C= (p.Thr105=) c.373C= c.1505C= (p.Thr502=) c.2633C= (p.Thr878=) c.2813C= (p.Thr938=) c.2480C= (p.Thr827=) | |
| 7 | g.117603597C>G | CA368986509 | CFTR | c.2723C>G (p.Thr908Ser) c.*2437C>G (n.*2437C>G) c.2540C>G (p.Thr847Ser) c.*1023C>G (n.*1023C>G) c.*2547C>G (n.*2547C>G) c.2297C>G (p.Thr766Ser) c.314C>G (p.Thr105Ser) c.373C>G c.1505C>G (p.Thr502Ser) c.2633C>G (p.Thr878Ser) c.2813C>G (p.Thr938Ser) c.2480C>G (p.Thr827Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603597C>T | CA368986510 | CFTR | c.2723C>T (p.Thr908Ile) c.*2437C>T (n.*2437C>T) c.2540C>T (p.Thr847Ile) c.*1023C>T (n.*1023C>T) c.*2547C>T (n.*2547C>T) c.2297C>T (p.Thr766Ile) c.314C>T (p.Thr105Ile) c.373C>T c.1505C>T (p.Thr502Ile) c.2633C>T (p.Thr878Ile) c.2813C>T (p.Thr938Ile) c.2480C>T (p.Thr827Ile) | |
| 7 | g.117603598C>A | CA457227935 | CFTR | c.2724C>A (p.Thr908=) c.*2438C>A (n.*2438C>A) c.2541C>A (p.Thr847=) c.*1024C>A (n.*1024C>A) c.*2548C>A (n.*2548C>A) c.2298C>A (p.Thr766=) c.315C>A (p.Thr105=) c.374C>A c.1506C>A (p.Thr502=) c.2634C>A (p.Thr878=) c.2814C>A (p.Thr938=) c.2481C>A (p.Thr827=) | |
| 7 | g.117603598C>G | CA457227936 | CFTR | c.2724C>G (p.Thr908=) c.*2438C>G (n.*2438C>G) c.2541C>G (p.Thr847=) c.*1024C>G (n.*1024C>G) c.*2548C>G (n.*2548C>G) c.2298C>G (p.Thr766=) c.315C>G (p.Thr105=) c.374C>G c.1506C>G (p.Thr502=) c.2634C>G (p.Thr878=) c.2814C>G (p.Thr938=) c.2481C>G (p.Thr827=) |