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.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.117603599A= | CA1737374624 | CFTR | c.2725A= (p.Ser909=) c.*2439A= (n.*2439A=) c.2542A= (p.Ser848=) c.*1025A= (n.*1025A=) c.*2549A= (n.*2549A=) c.2299A= (p.Ser767=) c.316A= (p.Ser106=) c.375A= c.1507A= (p.Ser503=) c.2635A= (p.Ser879=) c.2815A= (p.Ser939=) c.2482A= (p.Ser828=) | |
7 | g.117603599A>C | CA368986512 | CFTR | c.2725A>C (p.Ser909Arg) c.*2439A>C (n.*2439A>C) c.2542A>C (p.Ser848Arg) c.*1025A>C (n.*1025A>C) c.*2549A>C (n.*2549A>C) c.2299A>C (p.Ser767Arg) c.316A>C (p.Ser106Arg) c.375A>C c.1507A>C (p.Ser503Arg) c.2635A>C (p.Ser879Arg) c.2815A>C (p.Ser939Arg) c.2482A>C (p.Ser828Arg) | COSMIC |
7 | g.117603599A>G | CA368986513 | CFTR | c.2725A>G (p.Ser909Gly) c.*2439A>G (n.*2439A>G) c.2542A>G (p.Ser848Gly) c.*1025A>G (n.*1025A>G) c.*2549A>G (n.*2549A>G) c.2299A>G (p.Ser767Gly) c.316A>G (p.Ser106Gly) c.375A>G c.1507A>G (p.Ser503Gly) c.2635A>G (p.Ser879Gly) c.2815A>G (p.Ser939Gly) c.2482A>G (p.Ser828Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.117603599A>T | CA368986511 | CFTR | c.2725A>T (p.Ser909Cys) c.*2439A>T (n.*2439A>T) c.2542A>T (p.Ser848Cys) c.*1025A>T (n.*1025A>T) c.*2549A>T (n.*2549A>T) c.2299A>T (p.Ser767Cys) c.316A>T (p.Ser106Cys) c.375A>T c.1507A>T (p.Ser503Cys) c.2635A>T (p.Ser879Cys) c.2815A>T (p.Ser939Cys) c.2482A>T (p.Ser828Cys) | |
7 | g.117603600G>A | CA368986515 | CFTR | c.2726G>A (p.Ser909Asn) c.*2440G>A (n.*2440G>A) c.2543G>A (p.Ser848Asn) c.*1026G>A (n.*1026G>A) c.*2550G>A (n.*2550G>A) c.2300G>A (p.Ser767Asn) c.317G>A (p.Ser106Asn) c.376G>A c.1508G>A (p.Ser503Asn) c.2636G>A (p.Ser879Asn) c.2816G>A (p.Ser939Asn) c.2483G>A (p.Ser828Asn) | |
7 | g.117603600G>C | CA368986514 | CFTR | c.2726G>C (p.Ser909Thr) c.*2440G>C (n.*2440G>C) c.2543G>C (p.Ser848Thr) c.*1026G>C (n.*1026G>C) c.*2550G>C (n.*2550G>C) c.2300G>C (p.Ser767Thr) c.317G>C (p.Ser106Thr) c.376G>C c.1508G>C (p.Ser503Thr) c.2636G>C (p.Ser879Thr) c.2816G>C (p.Ser939Thr) c.2483G>C (p.Ser828Thr) | |
7 | g.117603600G= | CA1737374629 | CFTR | c.2726G= (p.Ser909=) c.*2440G= (n.*2440G=) c.2543G= (p.Ser848=) c.*1026G= (n.*1026G=) c.*2550G= (n.*2550G=) c.2300G= (p.Ser767=) c.317G= (p.Ser106=) c.376G= c.1508G= (p.Ser503=) c.2636G= (p.Ser879=) c.2816G= (p.Ser939=) c.2483G= (p.Ser828=) | |
7 | g.117603600G>T | CA164960034 | CFTR | c.2726G>T (p.Ser909Ile) c.*2440G>T (n.*2440G>T) c.2543G>T (p.Ser848Ile) c.*1026G>T (n.*1026G>T) c.*2550G>T (n.*2550G>T) c.2300G>T (p.Ser767Ile) c.317G>T (p.Ser106Ile) c.376G>T c.1508G>T (p.Ser503Ile) c.2636G>T (p.Ser879Ile) c.2816G>T (p.Ser939Ile) c.2483G>T (p.Ser828Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603601C>A | CA368986516 | CFTR | c.2727C>A (p.Ser909Arg) c.*2441C>A (n.*2441C>A) c.2544C>A (p.Ser848Arg) c.*1027C>A (n.*1027C>A) c.*2551C>A (n.*2551C>A) c.2301C>A (p.Ser767Arg) c.318C>A (p.Ser106Arg) c.377C>A c.1509C>A (p.Ser503Arg) c.2637C>A (p.Ser879Arg) c.2817C>A (p.Ser939Arg) c.2484C>A (p.Ser828Arg) | |
7 | g.117603601C>G | CA368986517 | CFTR | c.2727C>G (p.Ser909Arg) c.*2441C>G (n.*2441C>G) c.2544C>G (p.Ser848Arg) c.*1027C>G (n.*1027C>G) c.*2551C>G (n.*2551C>G) c.2301C>G (p.Ser767Arg) c.318C>G (p.Ser106Arg) c.377C>G c.1509C>G (p.Ser503Arg) c.2637C>G (p.Ser879Arg) c.2817C>G (p.Ser939Arg) c.2484C>G (p.Ser828Arg) | |
7 | g.117603601C>T | CA457227938 | CFTR | c.2727C>T (p.Ser909=) c.*2441C>T (n.*2441C>T) c.2544C>T (p.Ser848=) c.*1027C>T (n.*1027C>T) c.*2551C>T (n.*2551C>T) c.2301C>T (p.Ser767=) c.318C>T (p.Ser106=) c.377C>T c.1509C>T (p.Ser503=) c.2637C>T (p.Ser879=) c.2817C>T (p.Ser939=) c.2484C>T (p.Ser828=) | |
7 | g.117603602A>C | CA368986518 | CFTR | c.2728A>C (p.Thr910Pro) c.*2442A>C (n.*2442A>C) c.2545A>C (p.Thr849Pro) c.*1028A>C (n.*1028A>C) c.*2552A>C (n.*2552A>C) c.2302A>C (p.Thr768Pro) c.319A>C (p.Thr107Pro) c.378A>C c.1510A>C (p.Thr504Pro) c.2638A>C (p.Thr880Pro) c.2818A>C (p.Thr940Pro) c.2485A>C (p.Thr829Pro) | |
7 | g.117603602A>G | CA368986519 | CFTR | c.2728A>G (p.Thr910Ala) c.*2442A>G (n.*2442A>G) c.2545A>G (p.Thr849Ala) c.*1028A>G (n.*1028A>G) c.*2552A>G (n.*2552A>G) c.2302A>G (p.Thr768Ala) c.319A>G (p.Thr107Ala) c.378A>G c.1510A>G (p.Thr504Ala) c.2638A>G (p.Thr880Ala) c.2818A>G (p.Thr940Ala) c.2485A>G (p.Thr829Ala) | |
7 | g.117603602A>T | CA368986520 | CFTR | c.2728A>T (p.Thr910Ser) c.*2442A>T (n.*2442A>T) c.2545A>T (p.Thr849Ser) c.*1028A>T (n.*1028A>T) c.*2552A>T (n.*2552A>T) c.2302A>T (p.Thr768Ser) c.319A>T (p.Thr107Ser) c.378A>T c.1510A>T (p.Thr504Ser) c.2638A>T (p.Thr880Ser) c.2818A>T (p.Thr940Ser) c.2485A>T (p.Thr829Ser) | |
7 | g.117603603C>A | CA368986521 | CFTR | c.2729C>A (p.Thr910Asn) c.*2443C>A (n.*2443C>A) c.2546C>A (p.Thr849Asn) c.*1029C>A (n.*1029C>A) c.*2553C>A (n.*2553C>A) c.2303C>A (p.Thr768Asn) c.320C>A (p.Thr107Asn) c.379C>A c.1511C>A (p.Thr504Asn) c.2639C>A (p.Thr880Asn) c.2819C>A (p.Thr940Asn) c.2486C>A (p.Thr829Asn) | |
7 | g.117603603C= | CA1737374634 | CFTR | c.2729C= (p.Thr910=) c.*2443C= (n.*2443C=) c.2546C= (p.Thr849=) c.*1029C= (n.*1029C=) c.*2553C= (n.*2553C=) c.2303C= (p.Thr768=) c.320C= (p.Thr107=) c.379C= c.1511C= (p.Thr504=) c.2639C= (p.Thr880=) c.2819C= (p.Thr940=) c.2486C= (p.Thr829=) | |
7 | g.117603603C>G | CA368986522 | CFTR | c.2729C>G (p.Thr910Ser) c.*2443C>G (n.*2443C>G) c.2546C>G (p.Thr849Ser) c.*1029C>G (n.*1029C>G) c.*2553C>G (n.*2553C>G) c.2303C>G (p.Thr768Ser) c.320C>G (p.Thr107Ser) c.379C>G c.1511C>G (p.Thr504Ser) c.2639C>G (p.Thr880Ser) c.2819C>G (p.Thr940Ser) c.2486C>G (p.Thr829Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603603C>T | CA368986523 | CFTR | c.2729C>T (p.Thr910Ile) c.*2443C>T (n.*2443C>T) c.2546C>T (p.Thr849Ile) c.*1029C>T (n.*1029C>T) c.*2553C>T (n.*2553C>T) c.2303C>T (p.Thr768Ile) c.320C>T (p.Thr107Ile) c.379C>T c.1511C>T (p.Thr504Ile) c.2639C>T (p.Thr880Ile) c.2819C>T (p.Thr940Ile) c.2486C>T (p.Thr829Ile) | |
7 | g.117603604C>A | CA457227941 | CFTR | c.2730C>A (p.Thr910=) c.*2444C>A (n.*2444C>A) c.2547C>A (p.Thr849=) c.*1030C>A (n.*1030C>A) c.*2554C>A (n.*2554C>A) c.2304C>A (p.Thr768=) c.321C>A (p.Thr107=) c.380C>A c.1512C>A (p.Thr504=) c.2640C>A (p.Thr880=) c.2820C>A (p.Thr940=) c.2487C>A (p.Thr829=) | ClinVar dbSNP |
7 | g.117603604C>G | CA457227940 | CFTR | c.2730C>G (p.Thr910=) c.*2444C>G (n.*2444C>G) c.2547C>G (p.Thr849=) c.*1030C>G (n.*1030C>G) c.*2554C>G (n.*2554C>G) c.2304C>G (p.Thr768=) c.321C>G (p.Thr107=) c.380C>G c.1512C>G (p.Thr504=) c.2640C>G (p.Thr880=) c.2820C>G (p.Thr940=) c.2487C>G (p.Thr829=) | ClinVar |
7 | g.117603604C>T | CA457227939 | CFTR | c.2730C>T (p.Thr910=) c.*2444C>T (n.*2444C>T) c.2547C>T (p.Thr849=) c.*1030C>T (n.*1030C>T) c.*2554C>T (n.*2554C>T) c.2304C>T (p.Thr768=) c.321C>T (p.Thr107=) c.380C>T c.1512C>T (p.Thr504=) c.2640C>T (p.Thr880=) c.2820C>T (p.Thr940=) c.2487C>T (p.Thr829=) | ClinVar |
7 | g.117603605A= | CA1737374638 | CFTR | c.2731A= (p.Ser911=) c.*2445A= (n.*2445A=) c.2548A= (p.Ser850=) c.*1031A= (n.*1031A=) c.*2555A= (n.*2555A=) c.2305A= (p.Ser769=) c.322A= (p.Ser108=) c.381A= c.1513A= (p.Ser505=) c.2641A= (p.Ser881=) c.2821A= (p.Ser941=) c.2488A= (p.Ser830=) | |
7 | g.117603605A>C | CA368986524 | CFTR | c.2731A>C (p.Ser911Arg) c.*2445A>C (n.*2445A>C) c.2548A>C (p.Ser850Arg) c.*1031A>C (n.*1031A>C) c.*2555A>C (n.*2555A>C) c.2305A>C (p.Ser769Arg) c.322A>C (p.Ser108Arg) c.381A>C c.1513A>C (p.Ser505Arg) c.2641A>C (p.Ser881Arg) c.2821A>C (p.Ser941Arg) c.2488A>C (p.Ser830Arg) | |
7 | g.117603605A>G | CA368986525 | CFTR | c.2731A>G (p.Ser911Gly) c.*2445A>G (n.*2445A>G) c.2548A>G (p.Ser850Gly) c.*1031A>G (n.*1031A>G) c.*2555A>G (n.*2555A>G) c.2305A>G (p.Ser769Gly) c.322A>G (p.Ser108Gly) c.381A>G c.1513A>G (p.Ser505Gly) c.2641A>G (p.Ser881Gly) c.2821A>G (p.Ser941Gly) c.2488A>G (p.Ser830Gly) | dbSNP |
7 | g.117603605A>T | CA368986526 | CFTR | c.2731A>T (p.Ser911Cys) c.*2445A>T (n.*2445A>T) c.2548A>T (p.Ser850Cys) c.*1031A>T (n.*1031A>T) c.*2555A>T (n.*2555A>T) c.2305A>T (p.Ser769Cys) c.322A>T (p.Ser108Cys) c.381A>T c.1513A>T (p.Ser505Cys) c.2641A>T (p.Ser881Cys) c.2821A>T (p.Ser941Cys) c.2488A>T (p.Ser830Cys) | |
7 | g.117603606G>A | CA4451279 | CFTR | c.2732G>A (p.Ser911Asn) c.*2446G>A (n.*2446G>A) c.2549G>A (p.Ser850Asn) c.*1032G>A (n.*1032G>A) c.*2556G>A (n.*2556G>A) c.2306G>A (p.Ser769Asn) c.323G>A (p.Ser108Asn) c.382G>A c.1514G>A (p.Ser505Asn) c.2642G>A (p.Ser881Asn) c.2822G>A (p.Ser941Asn) c.2489G>A (p.Ser830Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603606G>C | CA368986528 | CFTR | c.2732G>C (p.Ser911Thr) c.*2446G>C (n.*2446G>C) c.2549G>C (p.Ser850Thr) c.*1032G>C (n.*1032G>C) c.*2556G>C (n.*2556G>C) c.2306G>C (p.Ser769Thr) c.323G>C (p.Ser108Thr) c.382G>C c.1514G>C (p.Ser505Thr) c.2642G>C (p.Ser881Thr) c.2822G>C (p.Ser941Thr) c.2489G>C (p.Ser830Thr) | ClinVar dbSNP |
7 | g.117603606G= | CA1737374645 | CFTR | c.2732G= (p.Ser911=) c.*2446G= (n.*2446G=) c.2549G= (p.Ser850=) c.*1032G= (n.*1032G=) c.*2556G= (n.*2556G=) c.2306G= (p.Ser769=) c.323G= (p.Ser108=) c.382G= c.1514G= (p.Ser505=) c.2642G= (p.Ser881=) c.2822G= (p.Ser941=) c.2489G= (p.Ser830=) | |
7 | g.117603606G>T | CA368986527 | CFTR | c.2732G>T (p.Ser911Ile) c.*2446G>T (n.*2446G>T) c.2549G>T (p.Ser850Ile) c.*1032G>T (n.*1032G>T) c.*2556G>T (n.*2556G>T) c.2306G>T (p.Ser769Ile) c.323G>T (p.Ser108Ile) c.382G>T c.1514G>T (p.Ser505Ile) c.2642G>T (p.Ser881Ile) c.2822G>T (p.Ser941Ile) c.2489G>T (p.Ser830Ile) | |
7 | g.117603607T>A | CA368986529 | CFTR | c.2733T>A (p.Ser911Arg) c.*2447T>A (n.*2447T>A) c.2550T>A (p.Ser850Arg) c.*1033T>A (n.*1033T>A) c.*2557T>A (n.*2557T>A) c.2307T>A (p.Ser769Arg) c.324T>A (p.Ser108Arg) c.383T>A c.1515T>A (p.Ser505Arg) c.2643T>A (p.Ser881Arg) c.2823T>A (p.Ser941Arg) c.2490T>A (p.Ser830Arg) | |
7 | g.117603607T>C | CA457227942 | CFTR | c.2733T>C (p.Ser911=) c.*2447T>C (n.*2447T>C) c.2550T>C (p.Ser850=) c.*1033T>C (n.*1033T>C) c.*2557T>C (n.*2557T>C) c.2307T>C (p.Ser769=) c.324T>C (p.Ser108=) c.383T>C c.1515T>C (p.Ser505=) c.2643T>C (p.Ser881=) c.2823T>C (p.Ser941=) c.2490T>C (p.Ser830=) | ClinVar |
7 | g.117603607T>G | CA368986530 | CFTR | c.2733T>G (p.Ser911Arg) c.*2447T>G (n.*2447T>G) c.2550T>G (p.Ser850Arg) c.*1033T>G (n.*1033T>G) c.*2557T>G (n.*2557T>G) c.2307T>G (p.Ser769Arg) c.324T>G (p.Ser108Arg) c.383T>G c.1515T>G (p.Ser505Arg) c.2643T>G (p.Ser881Arg) c.2823T>G (p.Ser941Arg) c.2490T>G (p.Ser830Arg) | ClinVar dbSNP |
7 | g.117603607T= | CA1737374652 | CFTR | c.2733T= (p.Ser911=) c.*2447T= (n.*2447T=) c.2550T= (p.Ser850=) c.*1033T= (n.*1033T=) c.*2557T= (n.*2557T=) c.2307T= (p.Ser769=) c.324T= (p.Ser108=) c.383T= c.1515T= (p.Ser505=) c.2643T= (p.Ser881=) c.2823T= (p.Ser941=) c.2490T= (p.Ser830=) | |
7 | g.117603608T>A | CA368986531 | CFTR | c.2734T>A (p.Ser912Thr) c.*2448T>A (n.*2448T>A) c.2551T>A (p.Ser851Thr) c.*1034T>A (n.*1034T>A) c.*2558T>A (n.*2558T>A) c.2308T>A (p.Ser770Thr) c.325T>A (p.Ser109Thr) c.384T>A c.1516T>A (p.Ser506Thr) c.2644T>A (p.Ser882Thr) c.2824T>A (p.Ser942Thr) c.2491T>A (p.Ser831Thr) | ClinVar dbSNP |
7 | g.117603608T>C | CA368986532 | CFTR | c.2734T>C (p.Ser912Pro) c.*2448T>C (n.*2448T>C) c.2551T>C (p.Ser851Pro) c.*1034T>C (n.*1034T>C) c.*2558T>C (n.*2558T>C) c.2308T>C (p.Ser770Pro) c.325T>C (p.Ser109Pro) c.384T>C c.1516T>C (p.Ser506Pro) c.2644T>C (p.Ser882Pro) c.2824T>C (p.Ser942Pro) c.2491T>C (p.Ser831Pro) | |
7 | g.117603608T>G | CA368986533 | CFTR | c.2734T>G (p.Ser912Ala) c.*2448T>G (n.*2448T>G) c.2551T>G (p.Ser851Ala) c.*1034T>G (n.*1034T>G) c.*2558T>G (n.*2558T>G) c.2308T>G (p.Ser770Ala) c.325T>G (p.Ser109Ala) c.384T>G c.1516T>G (p.Ser506Ala) c.2644T>G (p.Ser882Ala) c.2824T>G (p.Ser942Ala) c.2491T>G (p.Ser831Ala) | |
7 | g.117603608T= | CA1737374663 | CFTR | c.2734T= (p.Ser912=) c.*2448T= (n.*2448T=) c.2551T= (p.Ser851=) c.*1034T= (n.*1034T=) c.*2558T= (n.*2558T=) c.2308T= (p.Ser770=) c.325T= (p.Ser109=) c.384T= c.1516T= (p.Ser506=) c.2644T= (p.Ser882=) c.2824T= (p.Ser942=) c.2491T= (p.Ser831=) | |
7 | g.117603609C>A | CA326900 | CFTR | c.2735C>A (p.Ser912Ter) c.*2449C>A (n.*2449C>A) c.2552C>A (p.Ser851Ter) c.*1035C>A (n.*1035C>A) c.*2559C>A (n.*2559C>A) c.2309C>A (p.Ser770Ter) c.326C>A (p.Ser109Ter) c.385C>A c.1517C>A (p.Ser506Ter) c.2645C>A (p.Ser882Ter) c.2825C>A (p.Ser942Ter) c.2492C>A (p.Ser831Ter) | ClinVar dbSNP |
7 | g.117603609C= | CA1737374679 | CFTR | c.2735C= (p.Ser912=) c.*2449C= (n.*2449C=) c.2552C= (p.Ser851=) c.*1035C= (n.*1035C=) c.*2559C= (n.*2559C=) c.2309C= (p.Ser770=) c.326C= (p.Ser109=) c.385C= c.1517C= (p.Ser506=) c.2645C= (p.Ser882=) c.2825C= (p.Ser942=) c.2492C= (p.Ser831=) | |
7 | g.117603609C>G | CA368986536 | CFTR | c.2735C>G (p.Ser912Trp) c.*2449C>G (n.*2449C>G) c.2552C>G (p.Ser851Trp) c.*1035C>G (n.*1035C>G) c.*2559C>G (n.*2559C>G) c.2309C>G (p.Ser770Trp) c.326C>G (p.Ser109Trp) c.385C>G c.1517C>G (p.Ser506Trp) c.2645C>G (p.Ser882Trp) c.2825C>G (p.Ser942Trp) c.2492C>G (p.Ser831Trp) | gnomAD v4 |
7 | g.117603609C>T | CA325592 | CFTR | c.2735C>T (p.Ser912Leu) c.*2449C>T (n.*2449C>T) c.2552C>T (p.Ser851Leu) c.*1035C>T (n.*1035C>T) c.*2559C>T (n.*2559C>T) c.2309C>T (p.Ser770Leu) c.326C>T (p.Ser109Leu) c.385C>T c.1517C>T (p.Ser506Leu) c.2645C>T (p.Ser882Leu) c.2825C>T (p.Ser942Leu) c.2492C>T (p.Ser831Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.[117603609C>T;117642451G>T] | CA357860 | CFTR | c.[2735C>T;3531G>T] (p.[Ser912Leu;Gly1177=]) c.[*2449C>T;*3445G>T] (n.[*2449C>T;*3445G>T]) c.[2552C>T;3548G>T] (p.[Ser851Leu;Gly1183Val]) c.[2735C>T;3731G>T] (p.[Ser912Leu;Gly1244Val]) c.[2735C>T;*384G>T] ([p.Ser912Leu;n.*384G>T]) c.[2735C>T;*392G>T] ([p.Ser912Leu;n.*392G>T]) c.[*1035C>T;*2106G>T] (n.[*1035C>T;*2106G>T]) c.[2735C>T;3725G>T] (p.[Ser912Leu;Gly1242Val]) c.[*2559C>T;*3555G>T] (n.[*2559C>T;*3555G>T]) c.[2309C>T;3305G>T] (p.[Ser770Leu;Gly1102Val]) c.[326C>T;1518G>T] ([p.Ser109Leu;n.1518G>T]) c.[385C>T;1181G>T] c.[2645C>T;3641G>T] (p.[Ser882Leu;Gly1214Val]) c.[2825C>T;3821G>T] (p.[Ser942Leu;Gly1274Val]) c.[2492C>T;3488G>T] (p.[Ser831Leu;Gly1163Val]) | |
7 | g.117603610G>A | CA240842 | CFTR | c.2736G>A (p.Ser912=) c.*2450G>A (n.*2450G>A) c.2553G>A (p.Ser851=) c.*1036G>A (n.*1036G>A) c.*2560G>A (n.*2560G>A) c.2310G>A (p.Ser770=) c.327G>A (p.Ser109=) c.386G>A c.1518G>A (p.Ser506=) c.2646G>A (p.Ser882=) c.2826G>A (p.Ser942=) c.2493G>A (p.Ser831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603610G>C | CA4451280 | CFTR | c.2736G>C (p.Ser912=) c.*2450G>C (n.*2450G>C) c.2553G>C (p.Ser851=) c.*1036G>C (n.*1036G>C) c.*2560G>C (n.*2560G>C) c.2310G>C (p.Ser770=) c.327G>C (p.Ser109=) c.386G>C c.1518G>C (p.Ser506=) c.2646G>C (p.Ser882=) c.2826G>C (p.Ser942=) c.2493G>C (p.Ser831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603610G= | CA1737374704 | CFTR | c.2736G= (p.Ser912=) c.*2450G= (n.*2450G=) c.2553G= (p.Ser851=) c.*1036G= (n.*1036G=) c.*2560G= (n.*2560G=) c.2310G= (p.Ser770=) c.327G= (p.Ser109=) c.386G= c.1518G= (p.Ser506=) c.2646G= (p.Ser882=) c.2826G= (p.Ser942=) c.2493G= (p.Ser831=) | |
7 | g.117603610G>T | CA4451281 | CFTR | c.2736G>T (p.Ser912=) c.*2450G>T (n.*2450G>T) c.2553G>T (p.Ser851=) c.*1036G>T (n.*1036G>T) c.*2560G>T (n.*2560G>T) c.2310G>T (p.Ser770=) c.327G>T (p.Ser109=) c.386G>T c.1518G>T (p.Ser506=) c.2646G>T (p.Ser882=) c.2826G>T (p.Ser942=) c.2493G>T (p.Ser831=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603610dup | CA326902 | CFTR | c.2736dup (p.Tyr913ValfsTer?) c.*2450dup (n.*2450dup) c.2553dup (p.Tyr852ValfsTer?) c.*1036dup (n.*1036dup) c.*2560dup (n.*2560dup) c.2310dup (p.Tyr771ValfsTer?) c.327dup (p.Tyr110ValfsTer?) c.386dup c.1518dup (p.Tyr507ValfsTer?) c.2646dup (p.Tyr883ValfsTer?) c.2826dup (p.Tyr943ValfsTer?) c.2493dup (p.Tyr832ValfsTer?) | dbSNP |
7 | g.117603611T>A | CA368986545 | CFTR | c.2737T>A (p.Tyr913Asn) c.*2451T>A (n.*2451T>A) c.2554T>A (p.Tyr852Asn) c.*1037T>A (n.*1037T>A) c.*2561T>A (n.*2561T>A) c.2311T>A (p.Tyr771Asn) c.328T>A (p.Tyr110Asn) c.387T>A c.1519T>A (p.Tyr507Asn) c.2647T>A (p.Tyr883Asn) c.2827T>A (p.Tyr943Asn) c.2494T>A (p.Tyr832Asn) | |
7 | g.117603611T>C | CA368986548 | CFTR | c.2737T>C (p.Tyr913His) c.*2451T>C (n.*2451T>C) c.2554T>C (p.Tyr852His) c.*1037T>C (n.*1037T>C) c.*2561T>C (n.*2561T>C) c.2311T>C (p.Tyr771His) c.328T>C (p.Tyr110His) c.387T>C c.1519T>C (p.Tyr507His) c.2647T>C (p.Tyr883His) c.2827T>C (p.Tyr943His) c.2494T>C (p.Tyr832His) | |
7 | g.117603611T>G | CA368986544 | CFTR | c.2737T>G (p.Tyr913Asp) c.*2451T>G (n.*2451T>G) c.2554T>G (p.Tyr852Asp) c.*1037T>G (n.*1037T>G) c.*2561T>G (n.*2561T>G) c.2311T>G (p.Tyr771Asp) c.328T>G (p.Tyr110Asp) c.387T>G c.1519T>G (p.Tyr507Asp) c.2647T>G (p.Tyr883Asp) c.2827T>G (p.Tyr943Asp) c.2494T>G (p.Tyr832Asp) | |
7 | g.117603611T= | CA1737374711 | CFTR | c.2737T= (p.Tyr913=) c.*2451T= (n.*2451T=) c.2554T= (p.Tyr852=) c.*1037T= (n.*1037T=) c.*2561T= (n.*2561T=) c.2311T= (p.Tyr771=) c.328T= (p.Tyr110=) c.387T= c.1519T= (p.Tyr507=) c.2647T= (p.Tyr883=) c.2827T= (p.Tyr943=) c.2494T= (p.Tyr832=) | |
7 | g.117603611_117603612insG | CA325544 | CFTR | c.2737_2738insG (p.Tyr913Ter) c.*2451_*2452insG (n.*2451_*2452insG) c.2554_2555insG (p.Tyr852Ter) c.*1037_*1038insG (n.*1037_*1038insG) c.*2561_*2562insG (n.*2561_*2562insG) c.2311_2312insG (p.Tyr771Ter) c.328_329insG (p.Tyr110Ter) c.387_388insG c.1519_1520insG (p.Tyr507Ter) c.2647_2648insG (p.Tyr883Ter) c.2827_2828insG (p.Tyr943Ter) c.2494_2495insG (p.Tyr832Ter) | ClinVar dbSNP |
7 | g.117603612A= | CA1737374718 | CFTR | c.2738A= (p.Tyr913=) c.*2452A= (n.*2452A=) c.2555A= (p.Tyr852=) c.*1038A= (n.*1038A=) c.*2562A= (n.*2562A=) c.2312A= (p.Tyr771=) c.329A= (p.Tyr110=) c.388A= c.1520A= (p.Tyr507=) c.2648A= (p.Tyr883=) c.2828A= (p.Tyr943=) c.2495A= (p.Tyr832=) | |
7 | g.117603612A>C | CA368986553 | CFTR | c.2738A>C (p.Tyr913Ser) c.*2452A>C (n.*2452A>C) c.2555A>C (p.Tyr852Ser) c.*1038A>C (n.*1038A>C) c.*2562A>C (n.*2562A>C) c.2312A>C (p.Tyr771Ser) c.329A>C (p.Tyr110Ser) c.388A>C c.1520A>C (p.Tyr507Ser) c.2648A>C (p.Tyr883Ser) c.2828A>C (p.Tyr943Ser) c.2495A>C (p.Tyr832Ser) | |
7 | g.117603612A>G | CA325529 | CFTR | c.2738A>G (p.Tyr913Cys) c.*2452A>G (n.*2452A>G) c.2555A>G (p.Tyr852Cys) c.*1038A>G (n.*1038A>G) c.*2562A>G (n.*2562A>G) c.2312A>G (p.Tyr771Cys) c.329A>G (p.Tyr110Cys) c.388A>G c.1520A>G (p.Tyr507Cys) c.2648A>G (p.Tyr883Cys) c.2828A>G (p.Tyr943Cys) c.2495A>G (p.Tyr832Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603612A>T | CA368986564 | CFTR | c.2738A>T (p.Tyr913Phe) c.*2452A>T (n.*2452A>T) c.2555A>T (p.Tyr852Phe) c.*1038A>T (n.*1038A>T) c.*2562A>T (n.*2562A>T) c.2312A>T (p.Tyr771Phe) c.329A>T (p.Tyr110Phe) c.388A>T c.1520A>T (p.Tyr507Phe) c.2648A>T (p.Tyr883Phe) c.2828A>T (p.Tyr943Phe) c.2495A>T (p.Tyr832Phe) | |
7 | g.117603613T>A | CA326903 | CFTR | c.2739T>A (p.Tyr913Ter) c.*2453T>A (n.*2453T>A) c.2556T>A (p.Tyr852Ter) c.*1039T>A (n.*1039T>A) c.*2563T>A (n.*2563T>A) c.2313T>A (p.Tyr771Ter) c.330T>A (p.Tyr110Ter) c.389T>A c.1521T>A (p.Tyr507Ter) c.2649T>A (p.Tyr883Ter) c.2829T>A (p.Tyr943Ter) c.2496T>A (p.Tyr832Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603613T>C | CA457227943 | CFTR | c.2739T>C (p.Tyr913=) c.*2453T>C (n.*2453T>C) c.2556T>C (p.Tyr852=) c.*1039T>C (n.*1039T>C) c.*2563T>C (n.*2563T>C) c.2313T>C (p.Tyr771=) c.330T>C (p.Tyr110=) c.389T>C c.1521T>C (p.Tyr507=) c.2649T>C (p.Tyr883=) c.2829T>C (p.Tyr943=) c.2496T>C (p.Tyr832=) | ClinVar dbSNP |
7 | g.117603613T>G | CA368986574 | CFTR | c.2739T>G (p.Tyr913Ter) c.*2453T>G (n.*2453T>G) c.2556T>G (p.Tyr852Ter) c.*1039T>G (n.*1039T>G) c.*2563T>G (n.*2563T>G) c.2313T>G (p.Tyr771Ter) c.330T>G (p.Tyr110Ter) c.389T>G c.1521T>G (p.Tyr507Ter) c.2649T>G (p.Tyr883Ter) c.2829T>G (p.Tyr943Ter) c.2496T>G (p.Tyr832Ter) | ClinVar |
7 | g.117603613T= | CA1737374723 | CFTR | c.2739T= (p.Tyr913=) c.*2453T= (n.*2453T=) c.2556T= (p.Tyr852=) c.*1039T= (n.*1039T=) c.*2563T= (n.*2563T=) c.2313T= (p.Tyr771=) c.330T= (p.Tyr110=) c.389T= c.1521T= (p.Tyr507=) c.2649T= (p.Tyr883=) c.2829T= (p.Tyr943=) c.2496T= (p.Tyr832=) | |
7 | g.117603614T>A | CA368986577 | CFTR | c.2740T>A (p.Tyr914Asn) c.*2454T>A (n.*2454T>A) c.2557T>A (p.Tyr853Asn) c.*1040T>A (n.*1040T>A) c.*2564T>A (n.*2564T>A) c.2314T>A (p.Tyr772Asn) c.331T>A (p.Tyr111Asn) c.390T>A c.1522T>A (p.Tyr508Asn) c.2650T>A (p.Tyr884Asn) c.2830T>A (p.Tyr944Asn) c.2497T>A (p.Tyr833Asn) | |
7 | g.117603614T>C | CA368986579 | CFTR | c.2740T>C (p.Tyr914His) c.*2454T>C (n.*2454T>C) c.2557T>C (p.Tyr853His) c.*1040T>C (n.*1040T>C) c.*2564T>C (n.*2564T>C) c.2314T>C (p.Tyr772His) c.331T>C (p.Tyr111His) c.390T>C c.1522T>C (p.Tyr508His) c.2650T>C (p.Tyr884His) c.2830T>C (p.Tyr944His) c.2497T>C (p.Tyr833His) | |
7 | g.117603614T>G | CA368986582 | CFTR | c.2740T>G (p.Tyr914Asp) c.*2454T>G (n.*2454T>G) c.2557T>G (p.Tyr853Asp) c.*1040T>G (n.*1040T>G) c.*2564T>G (n.*2564T>G) c.2314T>G (p.Tyr772Asp) c.331T>G (p.Tyr111Asp) c.390T>G c.1522T>G (p.Tyr508Asp) c.2650T>G (p.Tyr884Asp) c.2830T>G (p.Tyr944Asp) c.2497T>G (p.Tyr833Asp) | |
7 | g.117603615A>C | CA368986584 | CFTR | c.2741A>C (p.Tyr914Ser) c.*2455A>C (n.*2455A>C) c.2558A>C (p.Tyr853Ser) c.*1041A>C (n.*1041A>C) c.*2565A>C (n.*2565A>C) c.2315A>C (p.Tyr772Ser) c.332A>C (p.Tyr111Ser) c.391A>C c.1523A>C (p.Tyr508Ser) c.2651A>C (p.Tyr884Ser) c.2831A>C (p.Tyr944Ser) c.2498A>C (p.Tyr833Ser) | |
7 | g.117603615A>G | CA368986585 | CFTR | c.2741A>G (p.Tyr914Cys) c.*2455A>G (n.*2455A>G) c.2558A>G (p.Tyr853Cys) c.*1041A>G (n.*1041A>G) c.*2565A>G (n.*2565A>G) c.2315A>G (p.Tyr772Cys) c.332A>G (p.Tyr111Cys) c.391A>G c.1523A>G (p.Tyr508Cys) c.2651A>G (p.Tyr884Cys) c.2831A>G (p.Tyr944Cys) c.2498A>G (p.Tyr833Cys) | |
7 | g.117603615A>T | CA368986588 | CFTR | c.2741A>T (p.Tyr914Phe) c.*2455A>T (n.*2455A>T) c.2558A>T (p.Tyr853Phe) c.*1041A>T (n.*1041A>T) c.*2565A>T (n.*2565A>T) c.2315A>T (p.Tyr772Phe) c.332A>T (p.Tyr111Phe) c.391A>T c.1523A>T (p.Tyr508Phe) c.2651A>T (p.Tyr884Phe) c.2831A>T (p.Tyr944Phe) c.2498A>T (p.Tyr833Phe) | |
7 | g.117603616T>A | CA368986596 | CFTR | c.2742T>A (p.Tyr914Ter) c.*2456T>A (n.*2456T>A) c.2559T>A (p.Tyr853Ter) c.*1042T>A (n.*1042T>A) c.*2566T>A (n.*2566T>A) c.2316T>A (p.Tyr772Ter) c.333T>A (p.Tyr111Ter) c.392T>A c.1524T>A (p.Tyr508Ter) c.2652T>A (p.Tyr884Ter) c.2832T>A (p.Tyr944Ter) c.2499T>A (p.Tyr833Ter) | |
7 | g.117603616T>C | CA164960091 | CFTR | c.2742T>C (p.Tyr914=) c.*2456T>C (n.*2456T>C) c.2559T>C (p.Tyr853=) c.*1042T>C (n.*1042T>C) c.*2566T>C (n.*2566T>C) c.2316T>C (p.Tyr772=) c.333T>C (p.Tyr111=) c.392T>C c.1524T>C (p.Tyr508=) c.2652T>C (p.Tyr884=) c.2832T>C (p.Tyr944=) c.2499T>C (p.Tyr833=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603616T>G | CA368986592 | CFTR | c.2742T>G (p.Tyr914Ter) c.*2456T>G (n.*2456T>G) c.2559T>G (p.Tyr853Ter) c.*1042T>G (n.*1042T>G) c.*2566T>G (n.*2566T>G) c.2316T>G (p.Tyr772Ter) c.333T>G (p.Tyr111Ter) c.392T>G c.1524T>G (p.Tyr508Ter) c.2652T>G (p.Tyr884Ter) c.2832T>G (p.Tyr944Ter) c.2499T>G (p.Tyr833Ter) | ClinVar |
7 | g.117603616T= | CA1737374735 | CFTR | c.2742T= (p.Tyr914=) c.*2456T= (n.*2456T=) c.2559T= (p.Tyr853=) c.*1042T= (n.*1042T=) c.*2566T= (n.*2566T=) c.2316T= (p.Tyr772=) c.333T= (p.Tyr111=) c.392T= c.1524T= (p.Tyr508=) c.2652T= (p.Tyr884=) c.2832T= (p.Tyr944=) c.2499T= (p.Tyr833=) | |
7 | g.117603617G>A | CA368986600 | CFTR | c.2743G>A (p.Val915Met) c.*2457G>A (n.*2457G>A) c.2560G>A (p.Val854Met) c.*1043G>A (n.*1043G>A) c.*2567G>A (n.*2567G>A) c.2317G>A (p.Val773Met) c.334G>A (p.Val112Met) c.393G>A c.1525G>A (p.Val509Met) c.2653G>A (p.Val885Met) c.2833G>A (p.Val945Met) c.2500G>A (p.Val834Met) | |
7 | g.117603617G>C | CA4451282 | CFTR | c.2743G>C (p.Val915Leu) c.*2457G>C (n.*2457G>C) c.2560G>C (p.Val854Leu) c.*1043G>C (n.*1043G>C) c.*2567G>C (n.*2567G>C) c.2317G>C (p.Val773Leu) c.334G>C (p.Val112Leu) c.393G>C c.1525G>C (p.Val509Leu) c.2653G>C (p.Val885Leu) c.2833G>C (p.Val945Leu) c.2500G>C (p.Val834Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603617G= | CA1737374746 | CFTR | c.2743G= (p.Val915=) c.*2457G= (n.*2457G=) c.2560G= (p.Val854=) c.*1043G= (n.*1043G=) c.*2567G= (n.*2567G=) c.2317G= (p.Val773=) c.334G= (p.Val112=) c.393G= c.1525G= (p.Val509=) c.2653G= (p.Val885=) c.2833G= (p.Val945=) c.2500G= (p.Val834=) | |
7 | g.117603617G>T | CA368986603 | CFTR | c.2743G>T (p.Val915Leu) c.*2457G>T (n.*2457G>T) c.2560G>T (p.Val854Leu) c.*1043G>T (n.*1043G>T) c.*2567G>T (n.*2567G>T) c.2317G>T (p.Val773Leu) c.334G>T (p.Val112Leu) c.393G>T c.1525G>T (p.Val509Leu) c.2653G>T (p.Val885Leu) c.2833G>T (p.Val945Leu) c.2500G>T (p.Val834Leu) | |
7 | g.117603617_117603619delinsA | CA2580076338 | CFTR | c.2743_2745delinsA (p.Val915IlefsTer?) c.*2457_*2459delinsA (n.*2457_*2459delinsA) c.2560_2562delinsA (p.Val854IlefsTer?) c.*1043_*1045delinsA (n.*1043_*1045delinsA) c.*2567_*2569delinsA (n.*2567_*2569delinsA) c.2317_2319delinsA (p.Val773IlefsTer?) c.334_336delinsA (p.Val112IlefsTer?) c.393_395delinsA c.1525_1527delinsA (p.Val509IlefsTer?) c.2653_2655delinsA (p.Val885IlefsTer?) c.2833_2835delinsA (p.Val945IlefsTer?) c.2500_2502delinsA (p.Val834IlefsTer?) | ClinVar |
7 | g.117603618T>A | CA368986612 | CFTR | c.2744T>A (p.Val915Glu) c.*2458T>A (n.*2458T>A) c.2561T>A (p.Val854Glu) c.*1044T>A (n.*1044T>A) c.*2568T>A (n.*2568T>A) c.2318T>A (p.Val773Glu) c.335T>A (p.Val112Glu) c.394T>A c.1526T>A (p.Val509Glu) c.2654T>A (p.Val885Glu) c.2834T>A (p.Val945Glu) c.2501T>A (p.Val834Glu) | |
7 | g.117603618T>C | CA368986615 | CFTR | c.2744T>C (p.Val915Ala) c.*2458T>C (n.*2458T>C) c.2561T>C (p.Val854Ala) c.*1044T>C (n.*1044T>C) c.*2568T>C (n.*2568T>C) c.2318T>C (p.Val773Ala) c.335T>C (p.Val112Ala) c.394T>C c.1526T>C (p.Val509Ala) c.2654T>C (p.Val885Ala) c.2834T>C (p.Val945Ala) c.2501T>C (p.Val834Ala) | |
7 | g.117603618T>G | CA368986616 | CFTR | c.2744T>G (p.Val915Gly) c.*2458T>G (n.*2458T>G) c.2561T>G (p.Val854Gly) c.*1044T>G (n.*1044T>G) c.*2568T>G (n.*2568T>G) c.2318T>G (p.Val773Gly) c.335T>G (p.Val112Gly) c.394T>G c.1526T>G (p.Val509Gly) c.2654T>G (p.Val885Gly) c.2834T>G (p.Val945Gly) c.2501T>G (p.Val834Gly) | |
7 | g.117603619G>A | CA457227944 | CFTR | c.2745G>A (p.Val915=) c.*2459G>A (n.*2459G>A) c.2562G>A (p.Val854=) c.*1045G>A (n.*1045G>A) c.*2569G>A (n.*2569G>A) c.2319G>A (p.Val773=) c.336G>A (p.Val112=) c.395G>A c.1527G>A (p.Val509=) c.2655G>A (p.Val885=) c.2835G>A (p.Val945=) c.2502G>A (p.Val834=) | ClinVar dbSNP gnomAD v4 |
7 | g.117603619G>C | CA457227945 | CFTR | c.2745G>C (p.Val915=) c.*2459G>C (n.*2459G>C) c.2562G>C (p.Val854=) c.*1045G>C (n.*1045G>C) c.*2569G>C (n.*2569G>C) c.2319G>C (p.Val773=) c.336G>C (p.Val112=) c.395G>C c.1527G>C (p.Val509=) c.2655G>C (p.Val885=) c.2835G>C (p.Val945=) c.2502G>C (p.Val834=) | |
7 | g.117603619G= | CA1737374753 | CFTR | c.2745G= (p.Val915=) c.*2459G= (n.*2459G=) c.2562G= (p.Val854=) c.*1045G= (n.*1045G=) c.*2569G= (n.*2569G=) c.2319G= (p.Val773=) c.336G= (p.Val112=) c.395G= c.1527G= (p.Val509=) c.2655G= (p.Val885=) c.2835G= (p.Val945=) c.2502G= (p.Val834=) | |
7 | g.117603619G>T | CA457227946 | CFTR | c.2745G>T (p.Val915=) c.*2459G>T (n.*2459G>T) c.2562G>T (p.Val854=) c.*1045G>T (n.*1045G>T) c.*2569G>T (n.*2569G>T) c.2319G>T (p.Val773=) c.336G>T (p.Val112=) c.395G>T c.1527G>T (p.Val509=) c.2655G>T (p.Val885=) c.2835G>T (p.Val945=) c.2502G>T (p.Val834=) | |
7 | g.117603620T>A | CA368986621 | CFTR | c.2746T>A (p.Phe916Ile) c.*2460T>A (n.*2460T>A) c.2563T>A (p.Phe855Ile) c.*1046T>A (n.*1046T>A) c.*2570T>A (n.*2570T>A) c.2320T>A (p.Phe774Ile) c.337T>A (p.Phe113Ile) c.396T>A c.1528T>A (p.Phe510Ile) c.2656T>A (p.Phe886Ile) c.2836T>A (p.Phe946Ile) c.2503T>A (p.Phe835Ile) | COSMIC |
7 | g.117603620T>C | CA368986618 | CFTR | c.2746T>C (p.Phe916Leu) c.*2460T>C (n.*2460T>C) c.2563T>C (p.Phe855Leu) c.*1046T>C (n.*1046T>C) c.*2570T>C (n.*2570T>C) c.2320T>C (p.Phe774Leu) c.337T>C (p.Phe113Leu) c.396T>C c.1528T>C (p.Phe510Leu) c.2656T>C (p.Phe886Leu) c.2836T>C (p.Phe946Leu) c.2503T>C (p.Phe835Leu) | |
7 | g.117603620T>G | CA368986619 | CFTR | c.2746T>G (p.Phe916Val) c.*2460T>G (n.*2460T>G) c.2563T>G (p.Phe855Val) c.*1046T>G (n.*1046T>G) c.*2570T>G (n.*2570T>G) c.2320T>G (p.Phe774Val) c.337T>G (p.Phe113Val) c.396T>G c.1528T>G (p.Phe510Val) c.2656T>G (p.Phe886Val) c.2836T>G (p.Phe946Val) c.2503T>G (p.Phe835Val) | |
7 | g.117603621T>A | CA368986622 | CFTR | c.2747T>A (p.Phe916Tyr) c.*2461T>A (n.*2461T>A) c.2564T>A (p.Phe855Tyr) c.*1047T>A (n.*1047T>A) c.*2571T>A (n.*2571T>A) c.2321T>A (p.Phe774Tyr) c.338T>A (p.Phe113Tyr) c.397T>A c.1529T>A (p.Phe510Tyr) c.2657T>A (p.Phe886Tyr) c.2837T>A (p.Phe946Tyr) c.2504T>A (p.Phe835Tyr) | COSMIC |
7 | g.117603621T>C | CA368986623 | CFTR | c.2747T>C (p.Phe916Ser) c.*2461T>C (n.*2461T>C) c.2564T>C (p.Phe855Ser) c.*1047T>C (n.*1047T>C) c.*2571T>C (n.*2571T>C) c.2321T>C (p.Phe774Ser) c.338T>C (p.Phe113Ser) c.397T>C c.1529T>C (p.Phe510Ser) c.2657T>C (p.Phe886Ser) c.2837T>C (p.Phe946Ser) c.2504T>C (p.Phe835Ser) | |
7 | g.117603621T>G | CA368986624 | CFTR | c.2747T>G (p.Phe916Cys) c.*2461T>G (n.*2461T>G) c.2564T>G (p.Phe855Cys) c.*1047T>G (n.*1047T>G) c.*2571T>G (n.*2571T>G) c.2321T>G (p.Phe774Cys) c.338T>G (p.Phe113Cys) c.397T>G c.1529T>G (p.Phe510Cys) c.2657T>G (p.Phe886Cys) c.2837T>G (p.Phe946Cys) c.2504T>G (p.Phe835Cys) | |
7 | g.117603622T>A | CA368986627 | CFTR | c.2748T>A (p.Phe916Leu) c.*2462T>A (n.*2462T>A) c.2565T>A (p.Phe855Leu) c.*1048T>A (n.*1048T>A) c.*2572T>A (n.*2572T>A) c.2322T>A (p.Phe774Leu) c.339T>A (p.Phe113Leu) c.398T>A c.1530T>A (p.Phe510Leu) c.2658T>A (p.Phe886Leu) c.2838T>A (p.Phe946Leu) c.2505T>A (p.Phe835Leu) | |
7 | g.117603622T>C | CA457227947 | CFTR | c.2748T>C (p.Phe916=) c.*2462T>C (n.*2462T>C) c.2565T>C (p.Phe855=) c.*1048T>C (n.*1048T>C) c.*2572T>C (n.*2572T>C) c.2322T>C (p.Phe774=) c.339T>C (p.Phe113=) c.398T>C c.1530T>C (p.Phe510=) c.2658T>C (p.Phe886=) c.2838T>C (p.Phe946=) c.2505T>C (p.Phe835=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603622T>G | CA368986628 | CFTR | c.2748T>G (p.Phe916Leu) c.*2462T>G (n.*2462T>G) c.2565T>G (p.Phe855Leu) c.*1048T>G (n.*1048T>G) c.*2572T>G (n.*2572T>G) c.2322T>G (p.Phe774Leu) c.339T>G (p.Phe113Leu) c.398T>G c.1530T>G (p.Phe510Leu) c.2658T>G (p.Phe886Leu) c.2838T>G (p.Phe946Leu) c.2505T>G (p.Phe835Leu) | |
7 | g.117603622T= | CA1737374756 | CFTR | c.2748T= (p.Phe916=) c.*2462T= (n.*2462T=) c.2565T= (p.Phe855=) c.*1048T= (n.*1048T=) c.*2572T= (n.*2572T=) c.2322T= (p.Phe774=) c.339T= (p.Phe113=) c.398T= c.1530T= (p.Phe510=) c.2658T= (p.Phe886=) c.2838T= (p.Phe946=) c.2505T= (p.Phe835=) | |
7 | g.117603623T>A | CA368986630 | CFTR | c.2749T>A (p.Tyr917Asn) c.*2463T>A (n.*2463T>A) c.2566T>A (p.Tyr856Asn) c.*1049T>A (n.*1049T>A) c.*2573T>A (n.*2573T>A) c.2323T>A (p.Tyr775Asn) c.340T>A (p.Tyr114Asn) c.399T>A c.1531T>A (p.Tyr511Asn) c.2659T>A (p.Tyr887Asn) c.2839T>A (p.Tyr947Asn) c.2506T>A (p.Tyr836Asn) | |
7 | g.117603623T>C | CA368986629 | CFTR | c.2749T>C (p.Tyr917His) c.*2463T>C (n.*2463T>C) c.2566T>C (p.Tyr856His) c.*1049T>C (n.*1049T>C) c.*2573T>C (n.*2573T>C) c.2323T>C (p.Tyr775His) c.340T>C (p.Tyr114His) c.399T>C c.1531T>C (p.Tyr511His) c.2659T>C (p.Tyr887His) c.2839T>C (p.Tyr947His) c.2506T>C (p.Tyr836His) | gnomAD v4 |
7 | g.117603623T>G | CA326909 | CFTR | c.2749T>G (p.Tyr917Asp) c.*2463T>G (n.*2463T>G) c.2566T>G (p.Tyr856Asp) c.*1049T>G (n.*1049T>G) c.*2573T>G (n.*2573T>G) c.2323T>G (p.Tyr775Asp) c.340T>G (p.Tyr114Asp) c.399T>G c.1531T>G (p.Tyr511Asp) c.2659T>G (p.Tyr887Asp) c.2839T>G (p.Tyr947Asp) c.2506T>G (p.Tyr836Asp) | dbSNP |
7 | g.117603623T= | CA1737374759 | CFTR | c.2749T= (p.Tyr917=) c.*2463T= (n.*2463T=) c.2566T= (p.Tyr856=) c.*1049T= (n.*1049T=) c.*2573T= (n.*2573T=) c.2323T= (p.Tyr775=) c.340T= (p.Tyr114=) c.399T= c.1531T= (p.Tyr511=) c.2659T= (p.Tyr887=) c.2839T= (p.Tyr947=) c.2506T= (p.Tyr836=) | |
7 | g.117603624A= | CA1737374762 | CFTR | c.2750A= (p.Tyr917=) c.*2464A= (n.*2464A=) c.2567A= (p.Tyr856=) c.*1050A= (n.*1050A=) c.*2574A= (n.*2574A=) c.2324A= (p.Tyr775=) c.341A= (p.Tyr114=) c.400A= c.1532A= (p.Tyr511=) c.2660A= (p.Tyr887=) c.2840A= (p.Tyr947=) c.2507A= (p.Tyr836=) | |
7 | g.117603624A>C | CA368986631 | CFTR | c.2750A>C (p.Tyr917Ser) c.*2464A>C (n.*2464A>C) c.2567A>C (p.Tyr856Ser) c.*1050A>C (n.*1050A>C) c.*2574A>C (n.*2574A>C) c.2324A>C (p.Tyr775Ser) c.341A>C (p.Tyr114Ser) c.400A>C c.1532A>C (p.Tyr511Ser) c.2660A>C (p.Tyr887Ser) c.2840A>C (p.Tyr947Ser) c.2507A>C (p.Tyr836Ser) | |
7 | g.117603624A>G | CA326911 | CFTR | c.2750A>G (p.Tyr917Cys) c.*2464A>G (n.*2464A>G) c.2567A>G (p.Tyr856Cys) c.*1050A>G (n.*1050A>G) c.*2574A>G (n.*2574A>G) c.2324A>G (p.Tyr775Cys) c.341A>G (p.Tyr114Cys) c.400A>G c.1532A>G (p.Tyr511Cys) c.2660A>G (p.Tyr887Cys) c.2840A>G (p.Tyr947Cys) c.2507A>G (p.Tyr836Cys) | ClinVar dbSNP |
7 | g.117603624A>T | CA368986633 | CFTR | c.2750A>T (p.Tyr917Phe) c.*2464A>T (n.*2464A>T) c.2567A>T (p.Tyr856Phe) c.*1050A>T (n.*1050A>T) c.*2574A>T (n.*2574A>T) c.2324A>T (p.Tyr775Phe) c.341A>T (p.Tyr114Phe) c.400A>T c.1532A>T (p.Tyr511Phe) c.2660A>T (p.Tyr887Phe) c.2840A>T (p.Tyr947Phe) c.2507A>T (p.Tyr836Phe) | |
7 | g.117603624_117603625insTTTTAGATATAGGAT | CA2562823202 | CFTR | c.2750_2751insTTTTAGATATAGGAT (p.Tyr917_Ile918insPheArgTyrArgIle) c.*2464_*2465insTTTTAGATATAGGAT (n.*2464_*2465insTTTTAGATATAGGAT) c.2567_2568insTTTTAGATATAGGAT (p.Tyr856_Ile857insPheArgTyrArgIle) c.*1050_*1051insTTTTAGATATAGGAT (n.*1050_*1051insTTTTAGATATAGGAT) c.*2574_*2575insTTTTAGATATAGGAT (n.*2574_*2575insTTTTAGATATAGGAT) c.2324_2325insTTTTAGATATAGGAT (p.Tyr775_Ile776insPheArgTyrArgIle) c.341_342insTTTTAGATATAGGAT (p.Tyr114_Ile115insPheArgTyrArgIle) c.400_401insTTTTAGATATAGGAT c.1532_1533insTTTTAGATATAGGAT (p.Tyr511_Ile512insPheArgTyrArgIle) c.2660_2661insTTTTAGATATAGGAT (p.Tyr887_Ile888insPheArgTyrArgIle) c.2840_2841insTTTTAGATATAGGAT (p.Tyr947_Ile948insPheArgTyrArgIle) c.2507_2508insTTTTAGATATAGGAT (p.Tyr836_Ile837insPheArgTyrArgIle) | |
7 | g.117603625C>A | CA368986636 | CFTR | c.2751C>A (p.Tyr917Ter) c.*2465C>A (n.*2465C>A) c.2568C>A (p.Tyr856Ter) c.*1051C>A (n.*1051C>A) c.*2575C>A (n.*2575C>A) c.2325C>A (p.Tyr775Ter) c.342C>A (p.Tyr114Ter) c.401C>A c.1533C>A (p.Tyr511Ter) c.2661C>A (p.Tyr887Ter) c.2841C>A (p.Tyr947Ter) c.2508C>A (p.Tyr836Ter) | |
7 | g.117603625C= | CA1737374767 | CFTR | c.2751C= (p.Tyr917=) c.*2465C= (n.*2465C=) c.2568C= (p.Tyr856=) c.*1051C= (n.*1051C=) c.*2575C= (n.*2575C=) c.2325C= (p.Tyr775=) c.342C= (p.Tyr114=) c.401C= c.1533C= (p.Tyr511=) c.2661C= (p.Tyr887=) c.2841C= (p.Tyr947=) c.2508C= (p.Tyr836=) | |
7 | g.117603625C>G | CA368986638 | CFTR | c.2751C>G (p.Tyr917Ter) c.*2465C>G (n.*2465C>G) c.2568C>G (p.Tyr856Ter) c.*1051C>G (n.*1051C>G) c.*2575C>G (n.*2575C>G) c.2325C>G (p.Tyr775Ter) c.342C>G (p.Tyr114Ter) c.401C>G c.1533C>G (p.Tyr511Ter) c.2661C>G (p.Tyr887Ter) c.2841C>G (p.Tyr947Ter) c.2508C>G (p.Tyr836Ter) | |
7 | g.117603625C>T | CA457227948 | CFTR | c.2751C>T (p.Tyr917=) c.*2465C>T (n.*2465C>T) c.2568C>T (p.Tyr856=) c.*1051C>T (n.*1051C>T) c.*2575C>T (n.*2575C>T) c.2325C>T (p.Tyr775=) c.342C>T (p.Tyr114=) c.401C>T c.1533C>T (p.Tyr511=) c.2661C>T (p.Tyr887=) c.2841C>T (p.Tyr947=) c.2508C>T (p.Tyr836=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603626A= | CA1737374783 | CFTR | c.2752A= (p.Ile918=) c.*2466A= (n.*2466A=) c.2569A= (p.Ile857=) c.*1052A= (n.*1052A=) c.*2576A= (n.*2576A=) c.2326A= (p.Ile776=) c.343A= (p.Ile115=) c.402A= c.1534A= (p.Ile512=) c.2662A= (p.Ile888=) c.2842A= (p.Ile948=) c.2509A= (p.Ile837=) | |
7 | g.117603626A>C | CA368986642 | CFTR | c.2752A>C (p.Ile918Leu) c.*2466A>C (n.*2466A>C) c.2569A>C (p.Ile857Leu) c.*1052A>C (n.*1052A>C) c.*2576A>C (n.*2576A>C) c.2326A>C (p.Ile776Leu) c.343A>C (p.Ile115Leu) c.402A>C c.1534A>C (p.Ile512Leu) c.2662A>C (p.Ile888Leu) c.2842A>C (p.Ile948Leu) c.2509A>C (p.Ile837Leu) | ClinVar |
7 | g.117603626A>G | CA368986644 | CFTR | c.2752A>G (p.Ile918Val) c.*2466A>G (n.*2466A>G) c.2569A>G (p.Ile857Val) c.*1052A>G (n.*1052A>G) c.*2576A>G (n.*2576A>G) c.2326A>G (p.Ile776Val) c.343A>G (p.Ile115Val) c.402A>G c.1534A>G (p.Ile512Val) c.2662A>G (p.Ile888Val) c.2842A>G (p.Ile948Val) c.2509A>G (p.Ile837Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603626A>T | CA368986646 | CFTR | c.2752A>T (p.Ile918Phe) c.*2466A>T (n.*2466A>T) c.2569A>T (p.Ile857Phe) c.*1052A>T (n.*1052A>T) c.*2576A>T (n.*2576A>T) c.2326A>T (p.Ile776Phe) c.343A>T (p.Ile115Phe) c.402A>T c.1534A>T (p.Ile512Phe) c.2662A>T (p.Ile888Phe) c.2842A>T (p.Ile948Phe) c.2509A>T (p.Ile837Phe) | ClinVar dbSNP |
7 | g.117603627T>A | CA368986649 | CFTR | c.2753T>A (p.Ile918Asn) c.*2467T>A (n.*2467T>A) c.2570T>A (p.Ile857Asn) c.*1053T>A (n.*1053T>A) c.*2577T>A (n.*2577T>A) c.2327T>A (p.Ile776Asn) c.344T>A (p.Ile115Asn) c.403T>A c.1535T>A (p.Ile512Asn) c.2663T>A (p.Ile888Asn) c.2843T>A (p.Ile948Asn) c.2510T>A (p.Ile837Asn) | |
7 | g.117603627T>C | CA368986653 | CFTR | c.2753T>C (p.Ile918Thr) c.*2467T>C (n.*2467T>C) c.2570T>C (p.Ile857Thr) c.*1053T>C (n.*1053T>C) c.*2577T>C (n.*2577T>C) c.2327T>C (p.Ile776Thr) c.344T>C (p.Ile115Thr) c.403T>C c.1535T>C (p.Ile512Thr) c.2663T>C (p.Ile888Thr) c.2843T>C (p.Ile948Thr) c.2510T>C (p.Ile837Thr) | gnomAD v4 |
7 | g.117603627T>G | CA368986651 | CFTR | c.2753T>G (p.Ile918Ser) c.*2467T>G (n.*2467T>G) c.2570T>G (p.Ile857Ser) c.*1053T>G (n.*1053T>G) c.*2577T>G (n.*2577T>G) c.2327T>G (p.Ile776Ser) c.344T>G (p.Ile115Ser) c.403T>G c.1535T>G (p.Ile512Ser) c.2663T>G (p.Ile888Ser) c.2843T>G (p.Ile948Ser) c.2510T>G (p.Ile837Ser) | |
7 | g.117603629del | CA2695199620 | CFTR | c.2755del (p.Tyr919ThrfsTer4) c.*2469del (n.*2469del) c.2572del (p.Tyr858ThrfsTer4) c.*1055del (n.*1055del) c.*2579del (n.*2579del) c.2329del (p.Tyr777ThrfsTer4) c.346del (p.Tyr116ThrfsTer4) c.405del c.1537del (p.Tyr513ThrfsTer4) c.2665del (p.Tyr889ThrfsTer4) c.2845del (p.Tyr949ThrfsTer4) c.2512del (p.Tyr838ThrfsTer4) | ClinVar |
7 | g.117603628T>A | CA457227949 | CFTR | c.2754T>A (p.Ile918=) c.*2468T>A (n.*2468T>A) c.2571T>A (p.Ile857=) c.*1054T>A (n.*1054T>A) c.*2578T>A (n.*2578T>A) c.2328T>A (p.Ile776=) c.345T>A (p.Ile115=) c.404T>A c.1536T>A (p.Ile512=) c.2664T>A (p.Ile888=) c.2844T>A (p.Ile948=) c.2511T>A (p.Ile837=) | |
7 | g.117603628T>C | CA457227950 | CFTR | c.2754T>C (p.Ile918=) c.*2468T>C (n.*2468T>C) c.2571T>C (p.Ile857=) c.*1054T>C (n.*1054T>C) c.*2578T>C (n.*2578T>C) c.2328T>C (p.Ile776=) c.345T>C (p.Ile115=) c.404T>C c.1536T>C (p.Ile512=) c.2664T>C (p.Ile888=) c.2844T>C (p.Ile948=) c.2511T>C (p.Ile837=) | |
7 | g.117603628T>G | CA326912 | CFTR | c.2754T>G (p.Ile918Met) c.*2468T>G (n.*2468T>G) c.2571T>G (p.Ile857Met) c.*1054T>G (n.*1054T>G) c.*2578T>G (n.*2578T>G) c.2328T>G (p.Ile776Met) c.345T>G (p.Ile115Met) c.404T>G c.1536T>G (p.Ile512Met) c.2664T>G (p.Ile888Met) c.2844T>G (p.Ile948Met) c.2511T>G (p.Ile837Met) | ClinVar dbSNP |
7 | g.117603628T= | CA1737374806 | CFTR | c.2754T= (p.Ile918=) c.*2468T= (n.*2468T=) c.2571T= (p.Ile857=) c.*1054T= (n.*1054T=) c.*2578T= (n.*2578T=) c.2328T= (p.Ile776=) c.345T= (p.Ile115=) c.404T= c.1536T= (p.Ile512=) c.2664T= (p.Ile888=) c.2844T= (p.Ile948=) c.2511T= (p.Ile837=) | |
7 | g.117603629T>A | CA164960117 | CFTR | c.2755T>A (p.Tyr919Asn) c.*2469T>A (n.*2469T>A) c.2572T>A (p.Tyr858Asn) c.*1055T>A (n.*1055T>A) c.*2579T>A (n.*2579T>A) c.2329T>A (p.Tyr777Asn) c.346T>A (p.Tyr116Asn) c.405T>A c.1537T>A (p.Tyr513Asn) c.2665T>A (p.Tyr889Asn) c.2845T>A (p.Tyr949Asn) c.2512T>A (p.Tyr838Asn) | ClinVar dbSNP gnomAD v4 |
7 | g.117603629T>C | CA368986659 | CFTR | c.2755T>C (p.Tyr919His) c.*2469T>C (n.*2469T>C) c.2572T>C (p.Tyr858His) c.*1055T>C (n.*1055T>C) c.*2579T>C (n.*2579T>C) c.2329T>C (p.Tyr777His) c.346T>C (p.Tyr116His) c.405T>C c.1537T>C (p.Tyr513His) c.2665T>C (p.Tyr889His) c.2845T>C (p.Tyr949His) c.2512T>C (p.Tyr838His) | |
7 | g.117603629T>G | CA368986661 | CFTR | c.2755T>G (p.Tyr919Asp) c.*2469T>G (n.*2469T>G) c.2572T>G (p.Tyr858Asp) c.*1055T>G (n.*1055T>G) c.*2579T>G (n.*2579T>G) c.2329T>G (p.Tyr777Asp) c.346T>G (p.Tyr116Asp) c.405T>G c.1537T>G (p.Tyr513Asp) c.2665T>G (p.Tyr889Asp) c.2845T>G (p.Tyr949Asp) c.2512T>G (p.Tyr838Asp) | |
7 | g.117603629T= | CA1737374811 | CFTR | c.2755T= (p.Tyr919=) c.*2469T= (n.*2469T=) c.2572T= (p.Tyr858=) c.*1055T= (n.*1055T=) c.*2579T= (n.*2579T=) c.2329T= (p.Tyr777=) c.346T= (p.Tyr116=) c.405T= c.1537T= (p.Tyr513=) c.2665T= (p.Tyr889=) c.2845T= (p.Tyr949=) c.2512T= (p.Tyr838=) | |
7 | g.117603630A= | CA1737374819 | CFTR | c.2756A= (p.Tyr919=) c.*2470A= (n.*2470A=) c.2573A= (p.Tyr858=) c.*1056A= (n.*1056A=) c.*2580A= (n.*2580A=) c.2330A= (p.Tyr777=) c.347A= (p.Tyr116=) c.406A= c.1538A= (p.Tyr513=) c.2666A= (p.Tyr889=) c.2846A= (p.Tyr949=) c.2513A= (p.Tyr838=) | |
7 | g.117603630A>C | CA368986664 | CFTR | c.2756A>C (p.Tyr919Ser) c.*2470A>C (n.*2470A>C) c.2573A>C (p.Tyr858Ser) c.*1056A>C (n.*1056A>C) c.*2580A>C (n.*2580A>C) c.2330A>C (p.Tyr777Ser) c.347A>C (p.Tyr116Ser) c.406A>C c.1538A>C (p.Tyr513Ser) c.2666A>C (p.Tyr889Ser) c.2846A>C (p.Tyr949Ser) c.2513A>C (p.Tyr838Ser) | |
7 | g.117603630A>G | CA326914 | CFTR | c.2756A>G (p.Tyr919Cys) c.*2470A>G (n.*2470A>G) c.2573A>G (p.Tyr858Cys) c.*1056A>G (n.*1056A>G) c.*2580A>G (n.*2580A>G) c.2330A>G (p.Tyr777Cys) c.347A>G (p.Tyr116Cys) c.406A>G c.1538A>G (p.Tyr513Cys) c.2666A>G (p.Tyr889Cys) c.2846A>G (p.Tyr949Cys) c.2513A>G (p.Tyr838Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603630A>T | CA368986666 | CFTR | c.2756A>T (p.Tyr919Phe) c.*2470A>T (n.*2470A>T) c.2573A>T (p.Tyr858Phe) c.*1056A>T (n.*1056A>T) c.*2580A>T (n.*2580A>T) c.2330A>T (p.Tyr777Phe) c.347A>T (p.Tyr116Phe) c.406A>T c.1538A>T (p.Tyr513Phe) c.2666A>T (p.Tyr889Phe) c.2846A>T (p.Tyr949Phe) c.2513A>T (p.Tyr838Phe) | |
7 | g.117603631C>A | CA368986669 | CFTR | c.2757C>A (p.Tyr919Ter) c.*2471C>A (n.*2471C>A) c.2574C>A (p.Tyr858Ter) c.*1057C>A (n.*1057C>A) c.*2581C>A (n.*2581C>A) c.2331C>A (p.Tyr777Ter) c.348C>A (p.Tyr116Ter) c.407C>A c.1539C>A (p.Tyr513Ter) c.2667C>A (p.Tyr889Ter) c.2847C>A (p.Tyr949Ter) c.2514C>A (p.Tyr838Ter) | ClinVar dbSNP |
7 | g.117603631C= | CA1737374837 | CFTR | c.2757C= (p.Tyr919=) c.*2471C= (n.*2471C=) c.2574C= (p.Tyr858=) c.*1057C= (n.*1057C=) c.*2581C= (n.*2581C=) c.2331C= (p.Tyr777=) c.348C= (p.Tyr116=) c.407C= c.1539C= (p.Tyr513=) c.2667C= (p.Tyr889=) c.2847C= (p.Tyr949=) c.2514C= (p.Tyr838=) | |
7 | g.117603631C>G | CA368986670 | CFTR | c.2757C>G (p.Tyr919Ter) c.*2471C>G (n.*2471C>G) c.2574C>G (p.Tyr858Ter) c.*1057C>G (n.*1057C>G) c.*2581C>G (n.*2581C>G) c.2331C>G (p.Tyr777Ter) c.348C>G (p.Tyr116Ter) c.407C>G c.1539C>G (p.Tyr513Ter) c.2667C>G (p.Tyr889Ter) c.2847C>G (p.Tyr949Ter) c.2514C>G (p.Tyr838Ter) | ClinVar dbSNP |
7 | g.117603631C>T | CA457227951 | CFTR | c.2757C>T (p.Tyr919=) c.*2471C>T (n.*2471C>T) c.2574C>T (p.Tyr858=) c.*1057C>T (n.*1057C>T) c.*2581C>T (n.*2581C>T) c.2331C>T (p.Tyr777=) c.348C>T (p.Tyr116=) c.407C>T c.1539C>T (p.Tyr513=) c.2667C>T (p.Tyr889=) c.2847C>T (p.Tyr949=) c.2514C>T (p.Tyr838=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603632G>A | CA326916 | CFTR | c.2758G>A (p.Val920Met) c.*2472G>A (n.*2472G>A) c.2575G>A (p.Val859Met) c.*1058G>A (n.*1058G>A) c.*2582G>A (n.*2582G>A) c.2332G>A (p.Val778Met) c.349G>A (p.Val117Met) c.408G>A c.1540G>A (p.Val514Met) c.2668G>A (p.Val890Met) c.2848G>A (p.Val950Met) c.2515G>A (p.Val839Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603632G>C | CA368986672 | CFTR | c.2758G>C (p.Val920Leu) c.*2472G>C (n.*2472G>C) c.2575G>C (p.Val859Leu) c.*1058G>C (n.*1058G>C) c.*2582G>C (n.*2582G>C) c.2332G>C (p.Val778Leu) c.349G>C (p.Val117Leu) c.408G>C c.1540G>C (p.Val514Leu) c.2668G>C (p.Val890Leu) c.2848G>C (p.Val950Leu) c.2515G>C (p.Val839Leu) | ClinVar |
7 | g.117603632G= | CA1737374860 | CFTR | c.2758G= (p.Val920=) c.*2472G= (n.*2472G=) c.2575G= (p.Val859=) c.*1058G= (n.*1058G=) c.*2582G= (n.*2582G=) c.2332G= (p.Val778=) c.349G= (p.Val117=) c.408G= c.1540G= (p.Val514=) c.2668G= (p.Val890=) c.2848G= (p.Val950=) c.2515G= (p.Val839=) | |
7 | g.117603632G>T | CA326918 | CFTR | c.2758G>T (p.Val920Leu) c.*2472G>T (n.*2472G>T) c.2575G>T (p.Val859Leu) c.*1058G>T (n.*1058G>T) c.*2582G>T (n.*2582G>T) c.2332G>T (p.Val778Leu) c.349G>T (p.Val117Leu) c.408G>T c.1540G>T (p.Val514Leu) c.2668G>T (p.Val890Leu) c.2848G>T (p.Val950Leu) c.2515G>T (p.Val839Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603633T>A | CA368986675 | CFTR | c.2759T>A (p.Val920Glu) c.*2473T>A (n.*2473T>A) c.2576T>A (p.Val859Glu) c.*1059T>A (n.*1059T>A) c.*2583T>A (n.*2583T>A) c.2333T>A (p.Val778Glu) c.350T>A (p.Val117Glu) c.409T>A c.1541T>A (p.Val514Glu) c.2669T>A (p.Val890Glu) c.2849T>A (p.Val950Glu) c.2516T>A (p.Val839Glu) | |
7 | g.117603633T>C | CA368986677 | CFTR | c.2759T>C (p.Val920Ala) c.*2473T>C (n.*2473T>C) c.2576T>C (p.Val859Ala) c.*1059T>C (n.*1059T>C) c.*2583T>C (n.*2583T>C) c.2333T>C (p.Val778Ala) c.350T>C (p.Val117Ala) c.409T>C c.1541T>C (p.Val514Ala) c.2669T>C (p.Val890Ala) c.2849T>C (p.Val950Ala) c.2516T>C (p.Val839Ala) | |
7 | g.117603633T>G | CA368986679 | CFTR | c.2759T>G (p.Val920Gly) c.*2473T>G (n.*2473T>G) c.2576T>G (p.Val859Gly) c.*1059T>G (n.*1059T>G) c.*2583T>G (n.*2583T>G) c.2333T>G (p.Val778Gly) c.350T>G (p.Val117Gly) c.409T>G c.1541T>G (p.Val514Gly) c.2669T>G (p.Val890Gly) c.2849T>G (p.Val950Gly) c.2516T>G (p.Val839Gly) | dbSNP |
7 | g.117603633T= | CA1737374873 | CFTR | c.2759T= (p.Val920=) c.*2473T= (n.*2473T=) c.2576T= (p.Val859=) c.*1059T= (n.*1059T=) c.*2583T= (n.*2583T=) c.2333T= (p.Val778=) c.350T= (p.Val117=) c.409T= c.1541T= (p.Val514=) c.2669T= (p.Val890=) c.2849T= (p.Val950=) c.2516T= (p.Val839=) | |
7 | g.117603633_117603634delinsTG | CA1737374874 | CFTR | c.2759_2760delinsTG (p.Val920=) c.*2473_*2474delinsTG (n.*2473_*2474delinsTG) c.2576_2577delinsTG (p.Val859=) c.*1059_*1060delinsTG (n.*1059_*1060delinsTG) c.*2583_*2584delinsTG (n.*2583_*2584delinsTG) c.2333_2334delinsTG (p.Val778=) c.350_351delinsTG (p.Val117=) c.409_410delinsTG c.1541_1542delinsTG (p.Val514=) c.2669_2670delinsTG (p.Val890=) c.2849_2850delinsTG (p.Val950=) c.2516_2517delinsTG (p.Val839=) | |
7 | g.117603634G>A | CA457227952 | CFTR | c.2760G>A (p.Val920=) c.*2474G>A (n.*2474G>A) c.2577G>A (p.Val859=) c.*1060G>A (n.*1060G>A) c.*2584G>A (n.*2584G>A) c.2334G>A (p.Val778=) c.351G>A (p.Val117=) c.410G>A c.1542G>A (p.Val514=) c.2670G>A (p.Val890=) c.2850G>A (p.Val950=) c.2517G>A (p.Val839=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603634G>C | CA457227953 | CFTR | c.2760G>C (p.Val920=) c.*2474G>C (n.*2474G>C) c.2577G>C (p.Val859=) c.*1060G>C (n.*1060G>C) c.*2584G>C (n.*2584G>C) c.2334G>C (p.Val778=) c.351G>C (p.Val117=) c.410G>C c.1542G>C (p.Val514=) c.2670G>C (p.Val890=) c.2850G>C (p.Val950=) c.2517G>C (p.Val839=) | |
7 | g.117603634G= | CA1737374882 | CFTR | c.2760G= (p.Val920=) c.*2474G= (n.*2474G=) c.2577G= (p.Val859=) c.*1060G= (n.*1060G=) c.*2584G= (n.*2584G=) c.2334G= (p.Val778=) c.351G= (p.Val117=) c.410G= c.1542G= (p.Val514=) c.2670G= (p.Val890=) c.2850G= (p.Val950=) c.2517G= (p.Val839=) | |
7 | g.117603634G>T | CA457227954 | CFTR | c.2760G>T (p.Val920=) c.*2474G>T (n.*2474G>T) c.2577G>T (p.Val859=) c.*1060G>T (n.*1060G>T) c.*2584G>T (n.*2584G>T) c.2334G>T (p.Val778=) c.351G>T (p.Val117=) c.410G>T c.1542G>T (p.Val514=) c.2670G>T (p.Val890=) c.2850G>T (p.Val950=) c.2517G>T (p.Val839=) | |
7 | g.117603636dup | CA1737374883 | CFTR | c.2762dup (p.Val922SerfsTer?) c.*2476dup (n.*2476dup) c.2579dup (p.Val861SerfsTer?) c.*1062dup (n.*1062dup) c.*2586dup (n.*2586dup) c.2336dup (p.Val780SerfsTer?) c.353dup (p.Val119SerfsTer?) c.412dup c.1544dup (p.Val516SerfsTer?) c.2672dup (p.Val892SerfsTer?) c.2852dup (p.Val952SerfsTer?) c.2519dup (p.Val841SerfsTer?) | dbSNP |
7 | g.117603636del | CA4451283 | CFTR | c.2762del (p.Gly921GlufsTer2) c.*2476del (n.*2476del) c.2579del (p.Gly860GlufsTer2) c.*1062del (n.*1062del) c.*2586del (n.*2586del) c.2336del (p.Gly779GlufsTer2) c.353del (p.Gly118GlufsTer2) c.412del c.1544del (p.Gly515GlufsTer2) c.2672del (p.Gly891GlufsTer2) c.2852del (p.Gly951GlufsTer2) c.2519del (p.Gly840GlufsTer2) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603635G>A | CA4451284 | CFTR | c.2761G>A (p.Gly921Arg) c.*2475G>A (n.*2475G>A) c.2578G>A (p.Gly860Arg) c.*1061G>A (n.*1061G>A) c.*2585G>A (n.*2585G>A) c.2335G>A (p.Gly779Arg) c.352G>A (p.Gly118Arg) c.411G>A c.1543G>A (p.Gly515Arg) c.2671G>A (p.Gly891Arg) c.2851G>A (p.Gly951Arg) c.2518G>A (p.Gly840Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603635G>C | CA368986680 | CFTR | c.2761G>C (p.Gly921Arg) c.*2475G>C (n.*2475G>C) c.2578G>C (p.Gly860Arg) c.*1061G>C (n.*1061G>C) c.*2585G>C (n.*2585G>C) c.2335G>C (p.Gly779Arg) c.352G>C (p.Gly118Arg) c.411G>C c.1543G>C (p.Gly515Arg) c.2671G>C (p.Gly891Arg) c.2851G>C (p.Gly951Arg) c.2518G>C (p.Gly840Arg) | |
7 | g.117603635G= | CA1737374888 | CFTR | c.2761G= (p.Gly921=) c.*2475G= (n.*2475G=) c.2578G= (p.Gly860=) c.*1061G= (n.*1061G=) c.*2585G= (n.*2585G=) c.2335G= (p.Gly779=) c.352G= (p.Gly118=) c.411G= c.1543G= (p.Gly515=) c.2671G= (p.Gly891=) c.2851G= (p.Gly951=) c.2518G= (p.Gly840=) | |
7 | g.117603635G>T | CA368986681 | CFTR | c.2761G>T (p.Gly921Ter) c.*2475G>T (n.*2475G>T) c.2578G>T (p.Gly860Ter) c.*1061G>T (n.*1061G>T) c.*2585G>T (n.*2585G>T) c.2335G>T (p.Gly779Ter) c.352G>T (p.Gly118Ter) c.411G>T c.1543G>T (p.Gly515Ter) c.2671G>T (p.Gly891Ter) c.2851G>T (p.Gly951Ter) c.2518G>T (p.Gly840Ter) | |
7 | g.117603636G>A | CA260220 | CFTR | c.2762G>A (p.Gly921Glu) c.*2476G>A (n.*2476G>A) c.2579G>A (p.Gly860Glu) c.*1062G>A (n.*1062G>A) c.*2586G>A (n.*2586G>A) c.2336G>A (p.Gly779Glu) c.353G>A (p.Gly118Glu) c.412G>A c.1544G>A (p.Gly515Glu) c.2672G>A (p.Gly891Glu) c.2852G>A (p.Gly951Glu) c.2519G>A (p.Gly840Glu) | ClinVar dbSNP gnomAD v2 COSMIC |
7 | g.117603636G>C | CA368986682 | CFTR | c.2762G>C (p.Gly921Ala) c.*2476G>C (n.*2476G>C) c.2579G>C (p.Gly860Ala) c.*1062G>C (n.*1062G>C) c.*2586G>C (n.*2586G>C) c.2336G>C (p.Gly779Ala) c.353G>C (p.Gly118Ala) c.412G>C c.1544G>C (p.Gly515Ala) c.2672G>C (p.Gly891Ala) c.2852G>C (p.Gly951Ala) c.2519G>C (p.Gly840Ala) | gnomAD v4 |
7 | g.117603636G= | CA1737374898 | CFTR | c.2762G= (p.Gly921=) c.*2476G= (n.*2476G=) c.2579G= (p.Gly860=) c.*1062G= (n.*1062G=) c.*2586G= (n.*2586G=) c.2336G= (p.Gly779=) c.353G= (p.Gly118=) c.412G= c.1544G= (p.Gly515=) c.2672G= (p.Gly891=) c.2852G= (p.Gly951=) c.2519G= (p.Gly840=) | |
7 | g.117603636G>T | CA368986685 | CFTR | c.2762G>T (p.Gly921Val) c.*2476G>T (n.*2476G>T) c.2579G>T (p.Gly860Val) c.*1062G>T (n.*1062G>T) c.*2586G>T (n.*2586G>T) c.2336G>T (p.Gly779Val) c.353G>T (p.Gly118Val) c.412G>T c.1544G>T (p.Gly515Val) c.2672G>T (p.Gly891Val) c.2852G>T (p.Gly951Val) c.2519G>T (p.Gly840Val) | ClinVar dbSNP |
7 | g.117603637_117603638dup | CA326920 | CFTR | c.2763_2764dup (p.Val922GlufsTer2) c.*2477_*2478dup (n.*2477_*2478dup) c.2580_2581dup (p.Val861GlufsTer2) c.*1063_*1064dup (n.*1063_*1064dup) c.*2587_*2588dup (n.*2587_*2588dup) c.2337_2338dup (p.Val780GlufsTer2) c.354_355dup (p.Val119GlufsTer2) c.413_414dup c.1545_1546dup (p.Val516GlufsTer2) c.2673_2674dup (p.Val892GlufsTer2) c.2853_2854dup (p.Val952GlufsTer2) c.2520_2521dup (p.Val841GlufsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603637A>C | CA457227955 | CFTR | c.2763A>C (p.Gly921=) c.*2477A>C (n.*2477A>C) c.2580A>C (p.Gly860=) c.*1063A>C (n.*1063A>C) c.*2587A>C (n.*2587A>C) c.2337A>C (p.Gly779=) c.354A>C (p.Gly118=) c.413A>C c.1545A>C (p.Gly515=) c.2673A>C (p.Gly891=) c.2853A>C (p.Gly951=) c.2520A>C (p.Gly840=) | |
7 | g.117603637A>G | CA457227956 | CFTR | c.2763A>G (p.Gly921=) c.*2477A>G (n.*2477A>G) c.2580A>G (p.Gly860=) c.*1063A>G (n.*1063A>G) c.*2587A>G (n.*2587A>G) c.2337A>G (p.Gly779=) c.354A>G (p.Gly118=) c.413A>G c.1545A>G (p.Gly515=) c.2673A>G (p.Gly891=) c.2853A>G (p.Gly951=) c.2520A>G (p.Gly840=) | |
7 | g.117603637A>T | CA457227957 | CFTR | c.2763A>T (p.Gly921=) c.*2477A>T (n.*2477A>T) c.2580A>T (p.Gly860=) c.*1063A>T (n.*1063A>T) c.*2587A>T (n.*2587A>T) c.2337A>T (p.Gly779=) c.354A>T (p.Gly118=) c.413A>T c.1545A>T (p.Gly515=) c.2673A>T (p.Gly891=) c.2853A>T (p.Gly951=) c.2520A>T (p.Gly840=) | |
7 | g.117603638G>A | CA368986694 | CFTR | c.2764G>A (p.Val922Ile) c.*2478G>A (n.*2478G>A) c.2581G>A (p.Val861Ile) c.*1064G>A (n.*1064G>A) c.*2588G>A (n.*2588G>A) c.2338G>A (p.Val780Ile) c.355G>A (p.Val119Ile) c.414G>A c.1546G>A (p.Val516Ile) c.2674G>A (p.Val892Ile) c.2854G>A (p.Val952Ile) c.2521G>A (p.Val841Ile) | ClinVar dbSNP COSMIC |
7 | g.117603638G>C | CA368986689 | CFTR | c.2764G>C (p.Val922Leu) c.*2478G>C (n.*2478G>C) c.2581G>C (p.Val861Leu) c.*1064G>C (n.*1064G>C) c.*2588G>C (n.*2588G>C) c.2338G>C (p.Val780Leu) c.355G>C (p.Val119Leu) c.414G>C c.1546G>C (p.Val516Leu) c.2674G>C (p.Val892Leu) c.2854G>C (p.Val952Leu) c.2521G>C (p.Val841Leu) | ClinVar gnomAD v4 |
7 | g.117603638G= | CA1737374900 | CFTR | c.2764G= (p.Val922=) c.*2478G= (n.*2478G=) c.2581G= (p.Val861=) c.*1064G= (n.*1064G=) c.*2588G= (n.*2588G=) c.2338G= (p.Val780=) c.355G= (p.Val119=) c.414G= c.1546G= (p.Val516=) c.2674G= (p.Val892=) c.2854G= (p.Val952=) c.2521G= (p.Val841=) | |
7 | g.117603638G>T | CA368986692 | CFTR | c.2764G>T (p.Val922Leu) c.*2478G>T (n.*2478G>T) c.2581G>T (p.Val861Leu) c.*1064G>T (n.*1064G>T) c.*2588G>T (n.*2588G>T) c.2338G>T (p.Val780Leu) c.355G>T (p.Val119Leu) c.414G>T c.1546G>T (p.Val516Leu) c.2674G>T (p.Val892Leu) c.2854G>T (p.Val952Leu) c.2521G>T (p.Val841Leu) | |
7 | g.117603639T>A | CA368986697 | CFTR | c.2765T>A (p.Val922Glu) c.*2479T>A (n.*2479T>A) c.2582T>A (p.Val861Glu) c.*1065T>A (n.*1065T>A) c.*2589T>A (n.*2589T>A) c.2339T>A (p.Val780Glu) c.356T>A (p.Val119Glu) c.415T>A c.1547T>A (p.Val516Glu) c.2675T>A (p.Val892Glu) c.2855T>A (p.Val952Glu) c.2522T>A (p.Val841Glu) | |
7 | g.117603639T>C | CA368986699 | CFTR | c.2765T>C (p.Val922Ala) c.*2479T>C (n.*2479T>C) c.2582T>C (p.Val861Ala) c.*1065T>C (n.*1065T>C) c.*2589T>C (n.*2589T>C) c.2339T>C (p.Val780Ala) c.356T>C (p.Val119Ala) c.415T>C c.1547T>C (p.Val516Ala) c.2675T>C (p.Val892Ala) c.2855T>C (p.Val952Ala) c.2522T>C (p.Val841Ala) | |
7 | g.117603639T>G | CA368986702 | CFTR | c.2765T>G (p.Val922Gly) c.*2479T>G (n.*2479T>G) c.2582T>G (p.Val861Gly) c.*1065T>G (n.*1065T>G) c.*2589T>G (n.*2589T>G) c.2339T>G (p.Val780Gly) c.356T>G (p.Val119Gly) c.415T>G c.1547T>G (p.Val516Gly) c.2675T>G (p.Val892Gly) c.2855T>G (p.Val952Gly) c.2522T>G (p.Val841Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603639T= | CA1737374907 | CFTR | c.2765T= (p.Val922=) c.*2479T= (n.*2479T=) c.2582T= (p.Val861=) c.*1065T= (n.*1065T=) c.*2589T= (n.*2589T=) c.2339T= (p.Val780=) c.356T= (p.Val119=) c.415T= c.1547T= (p.Val516=) c.2675T= (p.Val892=) c.2855T= (p.Val952=) c.2522T= (p.Val841=) | |
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=) | |
7 | g.117603652G>A | CA457227967 | CFTR | c.2778G>A (p.Leu926=) c.*2492G>A (n.*2492G>A) c.2595G>A (p.Leu865=) c.*1078G>A (n.*1078G>A) c.*2602G>A (n.*2602G>A) c.2352G>A (p.Leu784=) c.369G>A (p.Leu123=) c.428G>A c.1560G>A (p.Leu520=) c.2688G>A (p.Leu896=) c.2868G>A (p.Leu956=) c.2535G>A (p.Leu845=) | dbSNP gnomAD v4 |
7 | g.117603652G>C | CA368986774 | CFTR | c.2778G>C (p.Leu926Phe) c.*2492G>C (n.*2492G>C) c.2595G>C (p.Leu865Phe) c.*1078G>C (n.*1078G>C) c.*2602G>C (n.*2602G>C) c.2352G>C (p.Leu784Phe) c.369G>C (p.Leu123Phe) c.428G>C c.1560G>C (p.Leu520Phe) c.2688G>C (p.Leu896Phe) c.2868G>C (p.Leu956Phe) c.2535G>C (p.Leu845Phe) | |
7 | g.117603652G= | CA1737375019 | CFTR | c.2778G= (p.Leu926=) c.*2492G= (n.*2492G=) c.2595G= (p.Leu865=) c.*1078G= (n.*1078G=) c.*2602G= (n.*2602G=) c.2352G= (p.Leu784=) c.369G= (p.Leu123=) c.428G= c.1560G= (p.Leu520=) c.2688G= (p.Leu896=) c.2868G= (p.Leu956=) c.2535G= (p.Leu845=) | |
7 | g.117603652G>T | CA4451287 | CFTR | c.2778G>T (p.Leu926Phe) c.*2492G>T (n.*2492G>T) c.2595G>T (p.Leu865Phe) c.*1078G>T (n.*1078G>T) c.*2602G>T (n.*2602G>T) c.2352G>T (p.Leu784Phe) c.369G>T (p.Leu123Phe) c.428G>T c.1560G>T (p.Leu520Phe) c.2688G>T (p.Leu896Phe) c.2868G>T (p.Leu956Phe) c.2535G>T (p.Leu845Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603653_117603662dup | CA2695208419 | CFTR | c.2779_2788dup (p.Gly930AlafsTer?) c.*2493_*2502dup (n.*2493_*2502dup) c.2596_2605dup (p.Gly869AlafsTer?) c.*1079_*1088dup (n.*1079_*1088dup) c.*2603_*2612dup (n.*2603_*2612dup) c.2353_2362dup (p.Gly788AlafsTer?) c.370_379dup (p.Gly127AlafsTer?) c.429_438dup c.1561_1570dup (p.Gly524AlafsTer?) c.2689_2698dup (p.Gly900AlafsTer?) c.2869_2878dup (p.Gly960AlafsTer?) c.2536_2545dup (p.Gly849AlafsTer?) | |
7 | g.117603653C>A | CA368986787 | CFTR | c.2779C>A (p.Leu927Ile) c.*2493C>A (n.*2493C>A) c.2596C>A (p.Leu866Ile) c.*1079C>A (n.*1079C>A) c.*2603C>A (n.*2603C>A) c.2353C>A (p.Leu785Ile) c.370C>A (p.Leu124Ile) c.429C>A c.1561C>A (p.Leu521Ile) c.2689C>A (p.Leu897Ile) c.2869C>A (p.Leu957Ile) c.2536C>A (p.Leu846Ile) | |
7 | g.117603653C>G | CA368986783 | CFTR | c.2779C>G (p.Leu927Val) c.*2493C>G (n.*2493C>G) c.2596C>G (p.Leu866Val) c.*1079C>G (n.*1079C>G) c.*2603C>G (n.*2603C>G) c.2353C>G (p.Leu785Val) c.370C>G (p.Leu124Val) c.429C>G c.1561C>G (p.Leu521Val) c.2689C>G (p.Leu897Val) c.2869C>G (p.Leu957Val) c.2536C>G (p.Leu846Val) | |
7 | g.117603653C>T | CA368986779 | CFTR | c.2779C>T (p.Leu927Phe) c.*2493C>T (n.*2493C>T) c.2596C>T (p.Leu866Phe) c.*1079C>T (n.*1079C>T) c.*2603C>T (n.*2603C>T) c.2353C>T (p.Leu785Phe) c.370C>T (p.Leu124Phe) c.429C>T c.1561C>T (p.Leu521Phe) c.2689C>T (p.Leu897Phe) c.2869C>T (p.Leu957Phe) c.2536C>T (p.Leu846Phe) | |
7 | g.117603654T>A | CA368986791 | CFTR | c.2780T>A (p.Leu927His) c.*2494T>A (n.*2494T>A) c.2597T>A (p.Leu866His) c.*1080T>A (n.*1080T>A) c.*2604T>A (n.*2604T>A) c.2354T>A (p.Leu785His) c.371T>A (p.Leu124His) c.430T>A c.1562T>A (p.Leu521His) c.2690T>A (p.Leu897His) c.2870T>A (p.Leu957His) c.2537T>A (p.Leu846His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603654T>C | CA328107 | CFTR | c.2780T>C (p.Leu927Pro) c.*2494T>C (n.*2494T>C) c.2597T>C (p.Leu866Pro) c.*1080T>C (n.*1080T>C) c.*2604T>C (n.*2604T>C) c.2354T>C (p.Leu785Pro) c.371T>C (p.Leu124Pro) c.430T>C c.1562T>C (p.Leu521Pro) c.2690T>C (p.Leu897Pro) c.2870T>C (p.Leu957Pro) c.2537T>C (p.Leu846Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117603654T>G | CA368986796 | CFTR | c.2780T>G (p.Leu927Arg) c.*2494T>G (n.*2494T>G) c.2597T>G (p.Leu866Arg) c.*1080T>G (n.*1080T>G) c.*2604T>G (n.*2604T>G) c.2354T>G (p.Leu785Arg) c.371T>G (p.Leu124Arg) c.430T>G c.1562T>G (p.Leu521Arg) c.2690T>G (p.Leu897Arg) c.2870T>G (p.Leu957Arg) c.2537T>G (p.Leu846Arg) | |
7 | g.117603654T= | CA1737375026 | CFTR | c.2780T= (p.Leu927=) c.*2494T= (n.*2494T=) c.2597T= (p.Leu866=) c.*1080T= (n.*1080T=) c.*2604T= (n.*2604T=) c.2354T= (p.Leu785=) c.371T= (p.Leu124=) c.430T= c.1562T= (p.Leu521=) c.2690T= (p.Leu897=) c.2870T= (p.Leu957=) c.2537T= (p.Leu846=) | |
7 | g.117603655T>A | CA457227968 | CFTR | c.2781T>A (p.Leu927=) c.*2495T>A (n.*2495T>A) c.2598T>A (p.Leu866=) c.*1081T>A (n.*1081T>A) c.*2605T>A (n.*2605T>A) c.2355T>A (p.Leu785=) c.372T>A (p.Leu124=) c.431T>A c.1563T>A (p.Leu521=) c.2691T>A (p.Leu897=) c.2871T>A (p.Leu957=) c.2538T>A (p.Leu846=) | dbSNP |
7 | g.117603655T>C | CA457227970 | CFTR | c.2781T>C (p.Leu927=) c.*2495T>C (n.*2495T>C) c.2598T>C (p.Leu866=) c.*1081T>C (n.*1081T>C) c.*2605T>C (n.*2605T>C) c.2355T>C (p.Leu785=) c.372T>C (p.Leu124=) c.431T>C c.1563T>C (p.Leu521=) c.2691T>C (p.Leu897=) c.2871T>C (p.Leu957=) c.2538T>C (p.Leu846=) | |
7 | g.117603655T>G | CA457227969 | CFTR | c.2781T>G (p.Leu927=) c.*2495T>G (n.*2495T>G) c.2598T>G (p.Leu866=) c.*1081T>G (n.*1081T>G) c.*2605T>G (n.*2605T>G) c.2355T>G (p.Leu785=) c.372T>G (p.Leu124=) c.431T>G c.1563T>G (p.Leu521=) c.2691T>G (p.Leu897=) c.2871T>G (p.Leu957=) c.2538T>G (p.Leu846=) | |
7 | g.117603655T= | CA1737375032 | CFTR | c.2781T= (p.Leu927=) c.*2495T= (n.*2495T=) c.2598T= (p.Leu866=) c.*1081T= (n.*1081T=) c.*2605T= (n.*2605T=) c.2355T= (p.Leu785=) c.372T= (p.Leu124=) c.431T= c.1563T= (p.Leu521=) c.2691T= (p.Leu897=) c.2871T= (p.Leu957=) c.2538T= (p.Leu846=) | |
7 | g.117603656G>A | CA368986801 | CFTR | c.2782G>A (p.Ala928Thr) c.*2496G>A (n.*2496G>A) c.2599G>A (p.Ala867Thr) c.*1082G>A (n.*1082G>A) c.*2606G>A (n.*2606G>A) c.2356G>A (p.Ala786Thr) c.373G>A (p.Ala125Thr) c.432G>A c.1564G>A (p.Ala522Thr) c.2692G>A (p.Ala898Thr) c.2872G>A (p.Ala958Thr) c.2539G>A (p.Ala847Thr) | |
7 | g.117603656G>C | CA368986804 | CFTR | c.2782G>C (p.Ala928Pro) c.*2496G>C (n.*2496G>C) c.2599G>C (p.Ala867Pro) c.*1082G>C (n.*1082G>C) c.*2606G>C (n.*2606G>C) c.2356G>C (p.Ala786Pro) c.373G>C (p.Ala125Pro) c.432G>C c.1564G>C (p.Ala522Pro) c.2692G>C (p.Ala898Pro) c.2872G>C (p.Ala958Pro) c.2539G>C (p.Ala847Pro) | |
7 | g.117603656G>T | CA368986806 | CFTR | c.2782G>T (p.Ala928Ser) c.*2496G>T (n.*2496G>T) c.2599G>T (p.Ala867Ser) c.*1082G>T (n.*1082G>T) c.*2606G>T (n.*2606G>T) c.2356G>T (p.Ala786Ser) c.373G>T (p.Ala125Ser) c.432G>T c.1564G>T (p.Ala522Ser) c.2692G>T (p.Ala898Ser) c.2872G>T (p.Ala958Ser) c.2539G>T (p.Ala847Ser) | |
7 | g.117603657C>A | CA368986809 | CFTR | c.2783C>A (p.Ala928Asp) c.*2497C>A (n.*2497C>A) c.2600C>A (p.Ala867Asp) c.*1083C>A (n.*1083C>A) c.*2607C>A (n.*2607C>A) c.2357C>A (p.Ala786Asp) c.374C>A (p.Ala125Asp) c.433C>A c.1565C>A (p.Ala522Asp) c.2693C>A (p.Ala898Asp) c.2873C>A (p.Ala958Asp) c.2540C>A (p.Ala847Asp) | |
7 | g.117603657C>G | CA368986814 | CFTR | c.2783C>G (p.Ala928Gly) c.*2497C>G (n.*2497C>G) c.2600C>G (p.Ala867Gly) c.*1083C>G (n.*1083C>G) c.*2607C>G (n.*2607C>G) c.2357C>G (p.Ala786Gly) c.374C>G (p.Ala125Gly) c.433C>G c.1565C>G (p.Ala522Gly) c.2693C>G (p.Ala898Gly) c.2873C>G (p.Ala958Gly) c.2540C>G (p.Ala847Gly) | |
7 | g.117603657C>T | CA368986812 | CFTR | c.2783C>T (p.Ala928Val) c.*2497C>T (n.*2497C>T) c.2600C>T (p.Ala867Val) c.*1083C>T (n.*1083C>T) c.*2607C>T (n.*2607C>T) c.2357C>T (p.Ala786Val) c.374C>T (p.Ala125Val) c.433C>T c.1565C>T (p.Ala522Val) c.2693C>T (p.Ala898Val) c.2873C>T (p.Ala958Val) c.2540C>T (p.Ala847Val) | gnomAD v4 COSMIC |
7 | g.117603658T>A | CA457227973 | CFTR | c.2784T>A (p.Ala928=) c.*2498T>A (n.*2498T>A) c.2601T>A (p.Ala867=) c.*1084T>A (n.*1084T>A) c.*2608T>A (n.*2608T>A) c.2358T>A (p.Ala786=) c.375T>A (p.Ala125=) c.434T>A c.1566T>A (p.Ala522=) c.2694T>A (p.Ala898=) c.2874T>A (p.Ala958=) c.2541T>A (p.Ala847=) | |
7 | g.117603658T>C | CA457227972 | CFTR | c.2784T>C (p.Ala928=) c.*2498T>C (n.*2498T>C) c.2601T>C (p.Ala867=) c.*1084T>C (n.*1084T>C) c.*2608T>C (n.*2608T>C) c.2358T>C (p.Ala786=) c.375T>C (p.Ala125=) c.434T>C c.1566T>C (p.Ala522=) c.2694T>C (p.Ala898=) c.2874T>C (p.Ala958=) c.2541T>C (p.Ala847=) | |
7 | g.117603658T>G | CA457227971 | CFTR | c.2784T>G (p.Ala928=) c.*2498T>G (n.*2498T>G) c.2601T>G (p.Ala867=) c.*1084T>G (n.*1084T>G) c.*2608T>G (n.*2608T>G) c.2358T>G (p.Ala786=) c.375T>G (p.Ala125=) c.434T>G c.1566T>G (p.Ala522=) c.2694T>G (p.Ala898=) c.2874T>G (p.Ala958=) c.2541T>G (p.Ala847=) | |
7 | g.117603659A>C | CA368986819 | CFTR | c.2785A>C (p.Met929Leu) c.*2499A>C (n.*2499A>C) c.2602A>C (p.Met868Leu) c.*1085A>C (n.*1085A>C) c.*2609A>C (n.*2609A>C) c.2359A>C (p.Met787Leu) c.376A>C (p.Met126Leu) c.435A>C c.1567A>C (p.Met523Leu) c.2695A>C (p.Met899Leu) c.2875A>C (p.Met959Leu) c.2542A>C (p.Met848Leu) | |
7 | g.117603659A>G | CA368986822 | CFTR | c.2785A>G (p.Met929Val) c.*2499A>G (n.*2499A>G) c.2602A>G (p.Met868Val) c.*1085A>G (n.*1085A>G) c.*2609A>G (n.*2609A>G) c.2359A>G (p.Met787Val) c.376A>G (p.Met126Val) c.435A>G c.1567A>G (p.Met523Val) c.2695A>G (p.Met899Val) c.2875A>G (p.Met959Val) c.2542A>G (p.Met848Val) | |
7 | g.117603659A>T | CA368986825 | CFTR | c.2785A>T (p.Met929Leu) c.*2499A>T (n.*2499A>T) c.2602A>T (p.Met868Leu) c.*1085A>T (n.*1085A>T) c.*2609A>T (n.*2609A>T) c.2359A>T (p.Met787Leu) c.376A>T (p.Met126Leu) c.435A>T c.1567A>T (p.Met523Leu) c.2695A>T (p.Met899Leu) c.2875A>T (p.Met959Leu) c.2542A>T (p.Met848Leu) | |
7 | g.117603660T>A | CA368986828 | CFTR | c.2786T>A (p.Met929Lys) c.*2500T>A (n.*2500T>A) c.2603T>A (p.Met868Lys) c.*1086T>A (n.*1086T>A) c.*2610T>A (n.*2610T>A) c.2360T>A (p.Met787Lys) c.377T>A (p.Met126Lys) c.436T>A c.1568T>A (p.Met523Lys) c.2696T>A (p.Met899Lys) c.2876T>A (p.Met959Lys) c.2543T>A (p.Met848Lys) | gnomAD v4 |
7 | g.117603660T>C | CA368986831 | CFTR | c.2786T>C (p.Met929Thr) c.*2500T>C (n.*2500T>C) c.2603T>C (p.Met868Thr) c.*1086T>C (n.*1086T>C) c.*2610T>C (n.*2610T>C) c.2360T>C (p.Met787Thr) c.377T>C (p.Met126Thr) c.436T>C c.1568T>C (p.Met523Thr) c.2696T>C (p.Met899Thr) c.2876T>C (p.Met959Thr) c.2543T>C (p.Met848Thr) | |
7 | g.117603660T>G | CA368986840 | CFTR | c.2786T>G (p.Met929Arg) c.*2500T>G (n.*2500T>G) c.2603T>G (p.Met868Arg) c.*1086T>G (n.*1086T>G) c.*2610T>G (n.*2610T>G) c.2360T>G (p.Met787Arg) c.377T>G (p.Met126Arg) c.436T>G c.1568T>G (p.Met523Arg) c.2696T>G (p.Met899Arg) c.2876T>G (p.Met959Arg) c.2543T>G (p.Met848Arg) | |
7 | g.117603661G>A | CA368986843 | CFTR | c.2787G>A (p.Met929Ile) c.*2501G>A (n.*2501G>A) c.2604G>A (p.Met868Ile) c.*1087G>A (n.*1087G>A) c.*2611G>A (n.*2611G>A) c.2361G>A (p.Met787Ile) c.378G>A (p.Met126Ile) c.437G>A c.1569G>A (p.Met523Ile) c.2697G>A (p.Met899Ile) c.2877G>A (p.Met959Ile) c.2544G>A (p.Met848Ile) | ClinVar |
7 | g.117603661G>C | CA368986845 | CFTR | c.2787G>C (p.Met929Ile) c.*2501G>C (n.*2501G>C) c.2604G>C (p.Met868Ile) c.*1087G>C (n.*1087G>C) c.*2611G>C (n.*2611G>C) c.2361G>C (p.Met787Ile) c.378G>C (p.Met126Ile) c.437G>C c.1569G>C (p.Met523Ile) c.2697G>C (p.Met899Ile) c.2877G>C (p.Met959Ile) c.2544G>C (p.Met848Ile) | |
7 | g.117603661G>T | CA368986847 | CFTR | c.2787G>T (p.Met929Ile) c.*2501G>T (n.*2501G>T) c.2604G>T (p.Met868Ile) c.*1087G>T (n.*1087G>T) c.*2611G>T (n.*2611G>T) c.2361G>T (p.Met787Ile) c.378G>T (p.Met126Ile) c.437G>T c.1569G>T (p.Met523Ile) c.2697G>T (p.Met899Ile) c.2877G>T (p.Met959Ile) c.2544G>T (p.Met848Ile) | |
7 | g.117603663del | CA2695208420 | CFTR | c.2789del (p.Gly930AspfsTer12) c.*2503del (n.*2503del) c.2606del (p.Gly869AspfsTer12) c.*1089del (n.*1089del) c.*2613del (n.*2613del) c.2363del (p.Gly788AspfsTer12) c.380del (p.Gly127AspfsTer12) c.439del c.1571del (p.Gly524AspfsTer12) c.2699del (p.Gly900AspfsTer12) c.2879del (p.Gly960AspfsTer12) c.2546del (p.Gly849AspfsTer12) | |
7 | g.117603662G>A | CA368986848 | CFTR | c.2788G>A (p.Gly930Arg) c.*2502G>A (n.*2502G>A) c.2605G>A (p.Gly869Arg) c.*1088G>A (n.*1088G>A) c.*2612G>A (n.*2612G>A) c.2362G>A (p.Gly788Arg) c.379G>A (p.Gly127Arg) c.438G>A c.1570G>A (p.Gly524Arg) c.2698G>A (p.Gly900Arg) c.2878G>A (p.Gly960Arg) c.2545G>A (p.Gly849Arg) | |
7 | g.117603662G>C | CA368986849 | CFTR | c.2788G>C (p.Gly930Arg) c.*2502G>C (n.*2502G>C) c.2605G>C (p.Gly869Arg) c.*1088G>C (n.*1088G>C) c.*2612G>C (n.*2612G>C) c.2362G>C (p.Gly788Arg) c.379G>C (p.Gly127Arg) c.438G>C c.1570G>C (p.Gly524Arg) c.2698G>C (p.Gly900Arg) c.2878G>C (p.Gly960Arg) c.2545G>C (p.Gly849Arg) | |
7 | g.117603662G>T | CA368986851 | CFTR | c.2788G>T (p.Gly930Ter) c.*2502G>T (n.*2502G>T) c.2605G>T (p.Gly869Ter) c.*1088G>T (n.*1088G>T) c.*2612G>T (n.*2612G>T) c.2362G>T (p.Gly788Ter) c.379G>T (p.Gly127Ter) c.438G>T c.1570G>T (p.Gly524Ter) c.2698G>T (p.Gly900Ter) c.2878G>T (p.Gly960Ter) c.2545G>T (p.Gly849Ter) | gnomAD v4 |
7 | g.117603663G>A | CA368986853 | CFTR | c.2789G>A (p.Gly930Glu) c.*2503G>A (n.*2503G>A) c.2606G>A (p.Gly869Glu) c.*1089G>A (n.*1089G>A) c.*2613G>A (n.*2613G>A) c.2363G>A (p.Gly788Glu) c.380G>A (p.Gly127Glu) c.439G>A c.1571G>A (p.Gly524Glu) c.2699G>A (p.Gly900Glu) c.2879G>A (p.Gly960Glu) c.2546G>A (p.Gly849Glu) | |
7 | g.117603663G>C | CA368986855 | CFTR | c.2789G>C (p.Gly930Ala) c.*2503G>C (n.*2503G>C) c.2606G>C (p.Gly869Ala) c.*1089G>C (n.*1089G>C) c.*2613G>C (n.*2613G>C) c.2363G>C (p.Gly788Ala) c.380G>C (p.Gly127Ala) c.439G>C c.1571G>C (p.Gly524Ala) c.2699G>C (p.Gly900Ala) c.2879G>C (p.Gly960Ala) c.2546G>C (p.Gly849Ala) | |
7 | g.117603663G>T | CA368986854 | CFTR | c.2789G>T (p.Gly930Val) c.*2503G>T (n.*2503G>T) c.2606G>T (p.Gly869Val) c.*1089G>T (n.*1089G>T) c.*2613G>T (n.*2613G>T) c.2363G>T (p.Gly788Val) c.380G>T (p.Gly127Val) c.439G>T c.1571G>T (p.Gly524Val) c.2699G>T (p.Gly900Val) c.2879G>T (p.Gly960Val) c.2546G>T (p.Gly849Val) | gnomAD v4 |
7 | g.117603664A= | CA1737375034 | CFTR | c.2790A= (p.Gly930=) c.*2504A= (n.*2504A=) c.2607A= (p.Gly869=) c.*1090A= (n.*1090A=) c.*2614A= (n.*2614A=) c.2364A= (p.Gly788=) c.381A= (p.Gly127=) c.440A= c.1572A= (p.Gly524=) c.2700A= (p.Gly900=) c.2880A= (p.Gly960=) c.2547A= (p.Gly849=) | |
7 | g.117603664A>C | CA457227974 | CFTR | c.2790A>C (p.Gly930=) c.*2504A>C (n.*2504A>C) c.2607A>C (p.Gly869=) c.*1090A>C (n.*1090A>C) c.*2614A>C (n.*2614A>C) c.2364A>C (p.Gly788=) c.381A>C (p.Gly127=) c.440A>C c.1572A>C (p.Gly524=) c.2700A>C (p.Gly900=) c.2880A>C (p.Gly960=) c.2547A>C (p.Gly849=) | ClinVar |
7 | g.117603664A>G | CA164960202 | CFTR | c.2790A>G (p.Gly930=) c.*2504A>G (n.*2504A>G) c.2607A>G (p.Gly869=) c.*1090A>G (n.*1090A>G) c.*2614A>G (n.*2614A>G) c.2364A>G (p.Gly788=) c.381A>G (p.Gly127=) c.440A>G c.1572A>G (p.Gly524=) c.2700A>G (p.Gly900=) c.2880A>G (p.Gly960=) c.2547A>G (p.Gly849=) | ClinVar dbSNP |
7 | g.117603664A>T | CA457227975 | CFTR | c.2790A>T (p.Gly930=) c.*2504A>T (n.*2504A>T) c.2607A>T (p.Gly869=) c.*1090A>T (n.*1090A>T) c.*2614A>T (n.*2614A>T) c.2364A>T (p.Gly788=) c.381A>T (p.Gly127=) c.440A>T c.1572A>T (p.Gly524=) c.2700A>T (p.Gly900=) c.2880A>T (p.Gly960=) c.2547A>T (p.Gly849=) | |
7 | g.117603665T>A | CA368986857 | CFTR | c.2791T>A (p.Phe931Ile) c.*2505T>A (n.*2505T>A) c.2608T>A (p.Phe870Ile) c.*1091T>A (n.*1091T>A) c.*2615T>A (n.*2615T>A) c.2365T>A (p.Phe789Ile) c.382T>A (p.Phe128Ile) c.441T>A c.1573T>A (p.Phe525Ile) c.2701T>A (p.Phe901Ile) c.2881T>A (p.Phe961Ile) c.2548T>A (p.Phe850Ile) | |
7 | g.117603665T>C | CA368986859 | CFTR | c.2791T>C (p.Phe931Leu) c.*2505T>C (n.*2505T>C) c.2608T>C (p.Phe870Leu) c.*1091T>C (n.*1091T>C) c.*2615T>C (n.*2615T>C) c.2365T>C (p.Phe789Leu) c.382T>C (p.Phe128Leu) c.441T>C c.1573T>C (p.Phe525Leu) c.2701T>C (p.Phe901Leu) c.2881T>C (p.Phe961Leu) c.2548T>C (p.Phe850Leu) | |
7 | g.117603665T>G | CA368986863 | CFTR | c.2791T>G (p.Phe931Val) c.*2505T>G (n.*2505T>G) c.2608T>G (p.Phe870Val) c.*1091T>G (n.*1091T>G) c.*2615T>G (n.*2615T>G) c.2365T>G (p.Phe789Val) c.382T>G (p.Phe128Val) c.441T>G c.1573T>G (p.Phe525Val) c.2701T>G (p.Phe901Val) c.2881T>G (p.Phe961Val) c.2548T>G (p.Phe850Val) | |
7 | g.117603666T>A | CA368986866 | CFTR | c.2792T>A (p.Phe931Tyr) c.*2506T>A (n.*2506T>A) c.2609T>A (p.Phe870Tyr) c.*1092T>A (n.*1092T>A) c.*2616T>A (n.*2616T>A) c.2366T>A (p.Phe789Tyr) c.383T>A (p.Phe128Tyr) c.442T>A c.1574T>A (p.Phe525Tyr) c.2702T>A (p.Phe901Tyr) c.2882T>A (p.Phe961Tyr) c.2549T>A (p.Phe850Tyr) | |
7 | g.117603666T>C | CA368986867 | CFTR | c.2792T>C (p.Phe931Ser) c.*2506T>C (n.*2506T>C) c.2609T>C (p.Phe870Ser) c.*1092T>C (n.*1092T>C) c.*2616T>C (n.*2616T>C) c.2366T>C (p.Phe789Ser) c.383T>C (p.Phe128Ser) c.442T>C c.1574T>C (p.Phe525Ser) c.2702T>C (p.Phe901Ser) c.2882T>C (p.Phe961Ser) c.2549T>C (p.Phe850Ser) | |
7 | g.117603666T>G | CA368986869 | CFTR | c.2792T>G (p.Phe931Cys) c.*2506T>G (n.*2506T>G) c.2609T>G (p.Phe870Cys) c.*1092T>G (n.*1092T>G) c.*2616T>G (n.*2616T>G) c.2366T>G (p.Phe789Cys) c.383T>G (p.Phe128Cys) c.442T>G c.1574T>G (p.Phe525Cys) c.2702T>G (p.Phe901Cys) c.2882T>G (p.Phe961Cys) c.2549T>G (p.Phe850Cys) | |
7 | g.117603667C>A | CA368986870 | CFTR | c.2793C>A (p.Phe931Leu) c.*2507C>A (n.*2507C>A) c.2610C>A (p.Phe870Leu) c.*1093C>A (n.*1093C>A) c.*2617C>A (n.*2617C>A) c.2367C>A (p.Phe789Leu) c.384C>A (p.Phe128Leu) c.443C>A c.1575C>A (p.Phe525Leu) c.2703C>A (p.Phe901Leu) c.2883C>A (p.Phe961Leu) c.2550C>A (p.Phe850Leu) | |
7 | g.117603667C= | CA1737375038 | CFTR | c.2793C= (p.Phe931=) c.*2507C= (n.*2507C=) c.2610C= (p.Phe870=) c.*1093C= (n.*1093C=) c.*2617C= (n.*2617C=) c.2367C= (p.Phe789=) c.384C= (p.Phe128=) c.443C= c.1575C= (p.Phe525=) c.2703C= (p.Phe901=) c.2883C= (p.Phe961=) c.2550C= (p.Phe850=) | |
7 | g.117603667C>G | CA368986872 | CFTR | c.2793C>G (p.Phe931Leu) c.*2507C>G (n.*2507C>G) c.2610C>G (p.Phe870Leu) c.*1093C>G (n.*1093C>G) c.*2617C>G (n.*2617C>G) c.2367C>G (p.Phe789Leu) c.384C>G (p.Phe128Leu) c.443C>G c.1575C>G (p.Phe525Leu) c.2703C>G (p.Phe901Leu) c.2883C>G (p.Phe961Leu) c.2550C>G (p.Phe850Leu) | gnomAD v4 |
7 | g.117603667C>T | CA457227976 | CFTR | c.2793C>T (p.Phe931=) c.*2507C>T (n.*2507C>T) c.2610C>T (p.Phe870=) c.*1093C>T (n.*1093C>T) c.*2617C>T (n.*2617C>T) c.2367C>T (p.Phe789=) c.384C>T (p.Phe128=) c.443C>T c.1575C>T (p.Phe525=) c.2703C>T (p.Phe901=) c.2883C>T (p.Phe961=) c.2550C>T (p.Phe850=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117603668T>A | CA368986874 | CFTR | c.2794T>A (p.Phe932Ile) c.*2508T>A (n.*2508T>A) c.2611T>A (p.Phe871Ile) c.*1094T>A (n.*1094T>A) c.*2618T>A (n.*2618T>A) c.2368T>A (p.Phe790Ile) c.385T>A (p.Phe129Ile) c.444T>A c.1576T>A (p.Phe526Ile) c.2704T>A (p.Phe902Ile) c.2884T>A (p.Phe962Ile) c.2551T>A (p.Phe851Ile) | |
7 | g.117603668T>C | CA368986875 | CFTR | c.2794T>C (p.Phe932Leu) c.*2508T>C (n.*2508T>C) c.2611T>C (p.Phe871Leu) c.*1094T>C (n.*1094T>C) c.*2618T>C (n.*2618T>C) c.2368T>C (p.Phe790Leu) c.385T>C (p.Phe129Leu) c.444T>C c.1576T>C (p.Phe526Leu) c.2704T>C (p.Phe902Leu) c.2884T>C (p.Phe962Leu) c.2551T>C (p.Phe851Leu) | |
7 | g.117603668T>G | CA368986877 | CFTR | c.2794T>G (p.Phe932Val) c.*2508T>G (n.*2508T>G) c.2611T>G (p.Phe871Val) c.*1094T>G (n.*1094T>G) c.*2618T>G (n.*2618T>G) c.2368T>G (p.Phe790Val) c.385T>G (p.Phe129Val) c.444T>G c.1576T>G (p.Phe526Val) c.2704T>G (p.Phe902Val) c.2884T>G (p.Phe962Val) c.2551T>G (p.Phe851Val) | |
7 | g.117603669T>A | CA368986884 | CFTR | c.2795T>A (p.Phe932Tyr) c.*2509T>A (n.*2509T>A) c.2612T>A (p.Phe871Tyr) c.*1095T>A (n.*1095T>A) c.*2619T>A (n.*2619T>A) c.2369T>A (p.Phe790Tyr) c.386T>A (p.Phe129Tyr) c.445T>A c.1577T>A (p.Phe526Tyr) c.2705T>A (p.Phe902Tyr) c.2885T>A (p.Phe962Tyr) c.2552T>A (p.Phe851Tyr) | |
7 | g.117603669T>C | CA368986881 | CFTR | c.2795T>C (p.Phe932Ser) c.*2509T>C (n.*2509T>C) c.2612T>C (p.Phe871Ser) c.*1095T>C (n.*1095T>C) c.*2619T>C (n.*2619T>C) c.2369T>C (p.Phe790Ser) c.386T>C (p.Phe129Ser) c.445T>C c.1577T>C (p.Phe526Ser) c.2705T>C (p.Phe902Ser) c.2885T>C (p.Phe962Ser) c.2552T>C (p.Phe851Ser) | |
7 | g.117603669T>G | CA368986880 | CFTR | c.2795T>G (p.Phe932Cys) c.*2509T>G (n.*2509T>G) c.2612T>G (p.Phe871Cys) c.*1095T>G (n.*1095T>G) c.*2619T>G (n.*2619T>G) c.2369T>G (p.Phe790Cys) c.386T>G (p.Phe129Cys) c.445T>G c.1577T>G (p.Phe526Cys) c.2705T>G (p.Phe902Cys) c.2885T>G (p.Phe962Cys) c.2552T>G (p.Phe851Cys) | |
7 | g.117603670C>A | CA368986887 | CFTR | c.2796C>A (p.Phe932Leu) c.*2510C>A (n.*2510C>A) c.2613C>A (p.Phe871Leu) c.*1096C>A (n.*1096C>A) c.*2620C>A (n.*2620C>A) c.2370C>A (p.Phe790Leu) c.387C>A (p.Phe129Leu) c.446C>A c.1578C>A (p.Phe526Leu) c.2706C>A (p.Phe902Leu) c.2886C>A (p.Phe962Leu) c.2553C>A (p.Phe851Leu) | |
7 | g.117603670C>G | CA368986888 | CFTR | c.2796C>G (p.Phe932Leu) c.*2510C>G (n.*2510C>G) c.2613C>G (p.Phe871Leu) c.*1096C>G (n.*1096C>G) c.*2620C>G (n.*2620C>G) c.2370C>G (p.Phe790Leu) c.387C>G (p.Phe129Leu) c.446C>G c.1578C>G (p.Phe526Leu) c.2706C>G (p.Phe902Leu) c.2886C>G (p.Phe962Leu) c.2553C>G (p.Phe851Leu) | |
7 | g.117603670C>T | CA457227977 | CFTR | c.2796C>T (p.Phe932=) c.*2510C>T (n.*2510C>T) c.2613C>T (p.Phe871=) c.*1096C>T (n.*1096C>T) c.*2620C>T (n.*2620C>T) c.2370C>T (p.Phe790=) c.387C>T (p.Phe129=) c.446C>T c.1578C>T (p.Phe526=) c.2706C>T (p.Phe902=) c.2886C>T (p.Phe962=) c.2553C>T (p.Phe851=) | |
7 | g.117603671A= | CA1737375047 | CFTR | c.2797A= (p.Arg933=) c.*2511A= (n.*2511A=) c.2614A= (p.Arg872=) c.*1097A= (n.*1097A=) c.*2621A= (n.*2621A=) c.2371A= (p.Arg791=) c.388A= (p.Arg130=) c.447A= c.1579A= (p.Arg527=) c.2707A= (p.Arg903=) c.2887A= (p.Arg963=) c.2554A= (p.Arg852=) | |
7 | g.117603671A>C | CA457227978 | CFTR | c.2797A>C (p.Arg933=) c.*2511A>C (n.*2511A>C) c.2614A>C (p.Arg872=) c.*1097A>C (n.*1097A>C) c.*2621A>C (n.*2621A>C) c.2371A>C (p.Arg791=) c.388A>C (p.Arg130=) c.447A>C c.1579A>C (p.Arg527=) c.2707A>C (p.Arg903=) c.2887A>C (p.Arg963=) c.2554A>C (p.Arg852=) | |
7 | g.117603671A>G | CA326927 | CFTR | c.2797A>G (p.Arg933Gly) c.*2511A>G (n.*2511A>G) c.2614A>G (p.Arg872Gly) c.*1097A>G (n.*1097A>G) c.*2621A>G (n.*2621A>G) c.2371A>G (p.Arg791Gly) c.388A>G (p.Arg130Gly) c.447A>G c.1579A>G (p.Arg527Gly) c.2707A>G (p.Arg903Gly) c.2887A>G (p.Arg963Gly) c.2554A>G (p.Arg852Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603671A>T | CA368986890 | CFTR | c.2797A>T (p.Arg933Ter) c.*2511A>T (n.*2511A>T) c.2614A>T (p.Arg872Ter) c.*1097A>T (n.*1097A>T) c.*2621A>T (n.*2621A>T) c.2371A>T (p.Arg791Ter) c.388A>T (p.Arg130Ter) c.447A>T c.1579A>T (p.Arg527Ter) c.2707A>T (p.Arg903Ter) c.2887A>T (p.Arg963Ter) c.2554A>T (p.Arg852Ter) | |
7 | g.117603672G>A | CA368986894 | CFTR | c.2798G>A (p.Arg933Lys) c.*2512G>A (n.*2512G>A) c.2615G>A (p.Arg872Lys) c.*1098G>A (n.*1098G>A) c.*2622G>A (n.*2622G>A) c.2372G>A (p.Arg791Lys) c.389G>A (p.Arg130Lys) c.448G>A c.1580G>A (p.Arg527Lys) c.2708G>A (p.Arg903Lys) c.2888G>A (p.Arg963Lys) c.2555G>A (p.Arg852Lys) | |
7 | g.117603672G>C | CA368986898 | CFTR | c.2798G>C (p.Arg933Thr) c.*2512G>C (n.*2512G>C) c.2615G>C (p.Arg872Thr) c.*1098G>C (n.*1098G>C) c.*2622G>C (n.*2622G>C) c.2372G>C (p.Arg791Thr) c.389G>C (p.Arg130Thr) c.448G>C c.1580G>C (p.Arg527Thr) c.2708G>C (p.Arg903Thr) c.2888G>C (p.Arg963Thr) c.2555G>C (p.Arg852Thr) | |
7 | g.117603672G>T | CA368986900 | CFTR | c.2798G>T (p.Arg933Ile) c.*2512G>T (n.*2512G>T) c.2615G>T (p.Arg872Ile) c.*1098G>T (n.*1098G>T) c.*2622G>T (n.*2622G>T) c.2372G>T (p.Arg791Ile) c.389G>T (p.Arg130Ile) c.448G>T c.1580G>T (p.Arg527Ile) c.2708G>T (p.Arg903Ile) c.2888G>T (p.Arg963Ile) c.2555G>T (p.Arg852Ile) | |
7 | g.117603673A= | CA1737375055 | CFTR | c.2799A= (p.Arg933=) c.*2513A= (n.*2513A=) c.2616A= (p.Arg872=) c.*1099A= (n.*1099A=) c.*2623A= (n.*2623A=) c.2373A= (p.Arg791=) c.390A= (p.Arg130=) c.449A= c.1581A= (p.Arg527=) c.2709A= (p.Arg903=) c.2889A= (p.Arg963=) c.2556A= (p.Arg852=) | |
7 | g.117603673A>C | CA368986904 | CFTR | c.2799A>C (p.Arg933Ser) c.*2513A>C (n.*2513A>C) c.2616A>C (p.Arg872Ser) c.*1099A>C (n.*1099A>C) c.*2623A>C (n.*2623A>C) c.2373A>C (p.Arg791Ser) c.390A>C (p.Arg130Ser) c.449A>C c.1581A>C (p.Arg527Ser) c.2709A>C (p.Arg903Ser) c.2889A>C (p.Arg963Ser) c.2556A>C (p.Arg852Ser) | |
7 | g.117603673A>G | CA457227979 | CFTR | c.2799A>G (p.Arg933=) c.*2513A>G (n.*2513A>G) c.2616A>G (p.Arg872=) c.*1099A>G (n.*1099A>G) c.*2623A>G (n.*2623A>G) c.2373A>G (p.Arg791=) c.390A>G (p.Arg130=) c.449A>G c.1581A>G (p.Arg527=) c.2709A>G (p.Arg903=) c.2889A>G (p.Arg963=) c.2556A>G (p.Arg852=) | |
7 | g.117603673A>T | CA326929 | CFTR | c.2799A>T (p.Arg933Ser) c.*2513A>T (n.*2513A>T) c.2616A>T (p.Arg872Ser) c.*1099A>T (n.*1099A>T) c.*2623A>T (n.*2623A>T) c.2373A>T (p.Arg791Ser) c.390A>T (p.Arg130Ser) c.449A>T c.1581A>T (p.Arg527Ser) c.2709A>T (p.Arg903Ser) c.2889A>T (p.Arg963Ser) c.2556A>T (p.Arg852Ser) | ClinVar dbSNP |
7 | g.117603674G>A | CA4451288 | CFTR | c.2800G>A (p.Gly934Ser) c.*2514G>A (n.*2514G>A) c.2617G>A (p.Gly873Ser) c.*1100G>A (n.*1100G>A) c.*2624G>A (n.*2624G>A) c.2374G>A (p.Gly792Ser) c.391G>A (p.Gly131Ser) c.450G>A c.1582G>A (p.Gly528Ser) c.2710G>A (p.Gly904Ser) c.2890G>A (p.Gly964Ser) c.2557G>A (p.Gly853Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603674G>C | CA368986913 | CFTR | c.2800G>C (p.Gly934Arg) c.*2514G>C (n.*2514G>C) c.2617G>C (p.Gly873Arg) c.*1100G>C (n.*1100G>C) c.*2624G>C (n.*2624G>C) c.2374G>C (p.Gly792Arg) c.391G>C (p.Gly131Arg) c.450G>C c.1582G>C (p.Gly528Arg) c.2710G>C (p.Gly904Arg) c.2890G>C (p.Gly964Arg) c.2557G>C (p.Gly853Arg) | |
7 | g.117603674G= | CA1737375063 | CFTR | c.2800G= (p.Gly934=) c.*2514G= (n.*2514G=) c.2617G= (p.Gly873=) c.*1100G= (n.*1100G=) c.*2624G= (n.*2624G=) c.2374G= (p.Gly792=) c.391G= (p.Gly131=) c.450G= c.1582G= (p.Gly528=) c.2710G= (p.Gly904=) c.2890G= (p.Gly964=) c.2557G= (p.Gly853=) | |
7 | g.117603674G>T | CA368986915 | CFTR | c.2800G>T (p.Gly934Cys) c.*2514G>T (n.*2514G>T) c.2617G>T (p.Gly873Cys) c.*1100G>T (n.*1100G>T) c.*2624G>T (n.*2624G>T) c.2374G>T (p.Gly792Cys) c.391G>T (p.Gly131Cys) c.450G>T c.1582G>T (p.Gly528Cys) c.2710G>T (p.Gly904Cys) c.2890G>T (p.Gly964Cys) c.2557G>T (p.Gly853Cys) | |
7 | g.117603677_117603687del | CA2695208421 | CFTR | c.2803_2813del (p.Leu935AlafsTer?) c.*2517_*2527del (n.*2517_*2527del) c.2620_2630del (p.Leu874AlafsTer?) c.*1103_*1113del (n.*1103_*1113del) c.*2627_*2637del (n.*2627_*2637del) c.2377_2387del (p.Leu793AlafsTer?) c.394_404del (p.Leu132AlafsTer?) c.453_463del c.1585_1595del (p.Leu529AlafsTer?) c.2713_2723del (p.Leu905AlafsTer?) c.2893_2903del (p.Leu965AlafsTer?) c.2560_2570del (p.Leu854AlafsTer?) | |
7 | g.117603675G>A | CA368986918 | CFTR | c.2801G>A (p.Gly934Asp) c.*2515G>A (n.*2515G>A) c.2618G>A (p.Gly873Asp) c.*1101G>A (n.*1101G>A) c.*2625G>A (n.*2625G>A) c.2375G>A (p.Gly792Asp) c.392G>A (p.Gly131Asp) c.451G>A c.1583G>A (p.Gly528Asp) c.2711G>A (p.Gly904Asp) c.2891G>A (p.Gly964Asp) c.2558G>A (p.Gly853Asp) | |
7 | g.117603675G>C | CA368986924 | CFTR | c.2801G>C (p.Gly934Ala) c.*2515G>C (n.*2515G>C) c.2618G>C (p.Gly873Ala) c.*1101G>C (n.*1101G>C) c.*2625G>C (n.*2625G>C) c.2375G>C (p.Gly792Ala) c.392G>C (p.Gly131Ala) c.451G>C c.1583G>C (p.Gly528Ala) c.2711G>C (p.Gly904Ala) c.2891G>C (p.Gly964Ala) c.2558G>C (p.Gly853Ala) | |
7 | g.117603675G= | CA1737375068 | CFTR | c.2801G= (p.Gly934=) c.*2515G= (n.*2515G=) c.2618G= (p.Gly873=) c.*1101G= (n.*1101G=) c.*2625G= (n.*2625G=) c.2375G= (p.Gly792=) c.392G= (p.Gly131=) c.451G= c.1583G= (p.Gly528=) c.2711G= (p.Gly904=) c.2891G= (p.Gly964=) c.2558G= (p.Gly853=) | |
7 | g.117603675G>T | CA368986921 | CFTR | c.2801G>T (p.Gly934Val) c.*2515G>T (n.*2515G>T) c.2618G>T (p.Gly873Val) c.*1101G>T (n.*1101G>T) c.*2625G>T (n.*2625G>T) c.2375G>T (p.Gly792Val) c.392G>T (p.Gly131Val) c.451G>T c.1583G>T (p.Gly528Val) c.2711G>T (p.Gly904Val) c.2891G>T (p.Gly964Val) c.2558G>T (p.Gly853Val) | dbSNP |
7 | g.117603676T>A | CA457227980 | CFTR | c.2802T>A (p.Gly934=) c.*2516T>A (n.*2516T>A) c.2619T>A (p.Gly873=) c.*1102T>A (n.*1102T>A) c.*2626T>A (n.*2626T>A) c.2376T>A (p.Gly792=) c.393T>A (p.Gly131=) c.452T>A c.1584T>A (p.Gly528=) c.2712T>A (p.Gly904=) c.2892T>A (p.Gly964=) c.2559T>A (p.Gly853=) | |
7 | g.117603676T>C | CA457227982 | CFTR | c.2802T>C (p.Gly934=) c.*2516T>C (n.*2516T>C) c.2619T>C (p.Gly873=) c.*1102T>C (n.*1102T>C) c.*2626T>C (n.*2626T>C) c.2376T>C (p.Gly792=) c.393T>C (p.Gly131=) c.452T>C c.1584T>C (p.Gly528=) c.2712T>C (p.Gly904=) c.2892T>C (p.Gly964=) c.2559T>C (p.Gly853=) | ClinVar |
7 | g.117603676T>G | CA457227981 | CFTR | c.2802T>G (p.Gly934=) c.*2516T>G (n.*2516T>G) c.2619T>G (p.Gly873=) c.*1102T>G (n.*1102T>G) c.*2626T>G (n.*2626T>G) c.2376T>G (p.Gly792=) c.393T>G (p.Gly131=) c.452T>G c.1584T>G (p.Gly528=) c.2712T>G (p.Gly904=) c.2892T>G (p.Gly964=) c.2559T>G (p.Gly853=) | |
7 | g.117603677C>A | CA368986928 | CFTR | c.2803C>A (p.Leu935Ile) c.*2517C>A (n.*2517C>A) c.2620C>A (p.Leu874Ile) c.*1103C>A (n.*1103C>A) c.*2627C>A (n.*2627C>A) c.2377C>A (p.Leu793Ile) c.394C>A (p.Leu132Ile) c.453C>A c.1585C>A (p.Leu529Ile) c.2713C>A (p.Leu905Ile) c.2893C>A (p.Leu965Ile) c.2560C>A (p.Leu854Ile) | |
7 | g.117603677C>G | CA368986931 | CFTR | c.2803C>G (p.Leu935Val) c.*2517C>G (n.*2517C>G) c.2620C>G (p.Leu874Val) c.*1103C>G (n.*1103C>G) c.*2627C>G (n.*2627C>G) c.2377C>G (p.Leu793Val) c.394C>G (p.Leu132Val) c.453C>G c.1585C>G (p.Leu529Val) c.2713C>G (p.Leu905Val) c.2893C>G (p.Leu965Val) c.2560C>G (p.Leu854Val) | |
7 | g.117603677C>T | CA457227983 | CFTR | c.2803C>T (p.Leu935=) c.*2517C>T (n.*2517C>T) c.2620C>T (p.Leu874=) c.*1103C>T (n.*1103C>T) c.*2627C>T (n.*2627C>T) c.2377C>T (p.Leu793=) c.394C>T (p.Leu132=) c.453C>T c.1585C>T (p.Leu529=) c.2713C>T (p.Leu905=) c.2893C>T (p.Leu965=) c.2560C>T (p.Leu854=) | |
7 | g.117603678T>A | CA368986935 | CFTR | c.2804T>A (p.Leu935Gln) c.*2518T>A (n.*2518T>A) c.2621T>A (p.Leu874Gln) c.*1104T>A (n.*1104T>A) c.*2628T>A (n.*2628T>A) c.2378T>A (p.Leu793Gln) c.395T>A (p.Leu132Gln) c.454T>A c.1586T>A (p.Leu529Gln) c.2714T>A (p.Leu905Gln) c.2894T>A (p.Leu965Gln) c.2561T>A (p.Leu854Gln) | |
7 | g.117603678T>C | CA368986943 | CFTR | c.2804T>C (p.Leu935Pro) c.*2518T>C (n.*2518T>C) c.2621T>C (p.Leu874Pro) c.*1104T>C (n.*1104T>C) c.*2628T>C (n.*2628T>C) c.2378T>C (p.Leu793Pro) c.395T>C (p.Leu132Pro) c.454T>C c.1586T>C (p.Leu529Pro) c.2714T>C (p.Leu905Pro) c.2894T>C (p.Leu965Pro) c.2561T>C (p.Leu854Pro) | |
7 | g.117603678T>G | CA368986939 | CFTR | c.2804T>G (p.Leu935Arg) c.*2518T>G (n.*2518T>G) c.2621T>G (p.Leu874Arg) c.*1104T>G (n.*1104T>G) c.*2628T>G (n.*2628T>G) c.2378T>G (p.Leu793Arg) c.395T>G (p.Leu132Arg) c.454T>G c.1586T>G (p.Leu529Arg) c.2714T>G (p.Leu905Arg) c.2894T>G (p.Leu965Arg) c.2561T>G (p.Leu854Arg) | |
7 | g.117603678_117603684delinsTACCACT | CA1737375071 | CFTR | c.2804_2810delinsTACCACT (p.Leu935=) c.*2518_*2524delinsTACCACT (n.*2518_*2524delinsTACCACT) c.2621_2627delinsTACCACT (p.Leu874=) c.*1104_*1110delinsTACCACT (n.*1104_*1110delinsTACCACT) c.*2628_*2634delinsTACCACT (n.*2628_*2634delinsTACCACT) c.2378_2384delinsTACCACT (p.Leu793=) c.395_401delinsTACCACT (p.Leu132=) c.454_460delinsTACCACT c.1586_1592delinsTACCACT (p.Leu529=) c.2714_2720delinsTACCACT (p.Leu905=) c.2894_2900delinsTACCACT (p.Leu965=) c.2561_2567delinsTACCACT (p.Leu854=) | |
7 | g.117603679del | CA2684587830 | CFTR | c.2805del (p.Pro936HisfsTer6) c.*2519del (n.*2519del) c.2622del (p.Pro875HisfsTer6) c.*1105del (n.*1105del) c.*2629del (n.*2629del) c.2379del (p.Pro794HisfsTer6) c.396del (p.Pro133HisfsTer6) c.455del c.1587del (p.Pro530HisfsTer6) c.2715del (p.Pro906HisfsTer6) c.2895del (p.Pro966HisfsTer6) c.2562del (p.Pro855HisfsTer6) | gnomAD v4 |
7 | g.117603679A= | CA1737375080 | CFTR | c.2805A= (p.Leu935=) c.*2519A= (n.*2519A=) c.2622A= (p.Leu874=) c.*1105A= (n.*1105A=) c.*2629A= (n.*2629A=) c.2379A= (p.Leu793=) c.396A= (p.Leu132=) c.455A= c.1587A= (p.Leu529=) c.2715A= (p.Leu905=) c.2895A= (p.Leu965=) c.2562A= (p.Leu854=) | |
7 | g.117603679A>C | CA457227984 | CFTR | c.2805A>C (p.Leu935=) c.*2519A>C (n.*2519A>C) c.2622A>C (p.Leu874=) c.*1105A>C (n.*1105A>C) c.*2629A>C (n.*2629A>C) c.2379A>C (p.Leu793=) c.396A>C (p.Leu132=) c.455A>C c.1587A>C (p.Leu529=) c.2715A>C (p.Leu905=) c.2895A>C (p.Leu965=) c.2562A>C (p.Leu854=) | |
7 | g.117603679A>G | CA4451289 | CFTR | c.2805A>G (p.Leu935=) c.*2519A>G (n.*2519A>G) c.2622A>G (p.Leu874=) c.*1105A>G (n.*1105A>G) c.*2629A>G (n.*2629A>G) c.2379A>G (p.Leu793=) c.396A>G (p.Leu132=) c.455A>G c.1587A>G (p.Leu529=) c.2715A>G (p.Leu905=) c.2895A>G (p.Leu965=) c.2562A>G (p.Leu854=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603679A>T | CA457227985 | CFTR | c.2805A>T (p.Leu935=) c.*2519A>T (n.*2519A>T) c.2622A>T (p.Leu874=) c.*1105A>T (n.*1105A>T) c.*2629A>T (n.*2629A>T) c.2379A>T (p.Leu793=) c.396A>T (p.Leu132=) c.455A>T c.1587A>T (p.Leu529=) c.2715A>T (p.Leu905=) c.2895A>T (p.Leu965=) c.2562A>T (p.Leu854=) | |
7 | g.117603679_117603680delinsAC | CA1737375077 | CFTR | c.2805_2806delinsAC (p.Leu935=) c.*2519_*2520delinsAC (n.*2519_*2520delinsAC) c.2622_2623delinsAC (p.Leu874=) c.*1105_*1106delinsAC (n.*1105_*1106delinsAC) c.*2629_*2630delinsAC (n.*2629_*2630delinsAC) c.2379_2380delinsAC (p.Leu793=) c.396_397delinsAC (p.Leu132=) c.455_456delinsAC c.1587_1588delinsAC (p.Leu529=) c.2715_2716delinsAC (p.Leu905=) c.2895_2896delinsAC (p.Leu965=) c.2562_2563delinsAC (p.Leu854=) | |
7 | g.117603679_117603684delinsTCAGA | CA645509184 | CFTR | c.2805_2810delinsTCAGA (p.Pro936GlnfsTer6) c.*2519_*2524delinsTCAGA (n.*2519_*2524delinsTCAGA) c.2622_2627delinsTCAGA (p.Pro875GlnfsTer6) c.*1105_*1110delinsTCAGA (n.*1105_*1110delinsTCAGA) c.*2629_*2634delinsTCAGA (n.*2629_*2634delinsTCAGA) c.2379_2384delinsTCAGA (p.Pro794GlnfsTer6) c.396_401delinsTCAGA (p.Pro133GlnfsTer6) c.455_460delinsTCAGA c.1587_1592delinsTCAGA (p.Pro530GlnfsTer6) c.2715_2720delinsTCAGA (p.Pro906GlnfsTer6) c.2895_2900delinsTCAGA (p.Pro966GlnfsTer6) c.2562_2567delinsTCAGA (p.Pro855GlnfsTer6) | ClinVar dbSNP |
7 | g.117603680C>A | CA4451290 | CFTR | c.2806C>A (p.Pro936Thr) c.*2520C>A (n.*2520C>A) c.2623C>A (p.Pro875Thr) c.*1106C>A (n.*1106C>A) c.*2630C>A (n.*2630C>A) c.2380C>A (p.Pro794Thr) c.397C>A (p.Pro133Thr) c.456C>A c.1588C>A (p.Pro530Thr) c.2716C>A (p.Pro906Thr) c.2896C>A (p.Pro966Thr) c.2563C>A (p.Pro855Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603680C= | CA1737375091 | CFTR | c.2806C= (p.Pro936=) c.*2520C= (n.*2520C=) c.2623C= (p.Pro875=) c.*1106C= (n.*1106C=) c.*2630C= (n.*2630C=) c.2380C= (p.Pro794=) c.397C= (p.Pro133=) c.456C= c.1588C= (p.Pro530=) c.2716C= (p.Pro906=) c.2896C= (p.Pro966=) c.2563C= (p.Pro855=) | |
7 | g.117603680C>G | CA368986952 | CFTR | c.2806C>G (p.Pro936Ala) c.*2520C>G (n.*2520C>G) c.2623C>G (p.Pro875Ala) c.*1106C>G (n.*1106C>G) c.*2630C>G (n.*2630C>G) c.2380C>G (p.Pro794Ala) c.397C>G (p.Pro133Ala) c.456C>G c.1588C>G (p.Pro530Ala) c.2716C>G (p.Pro906Ala) c.2896C>G (p.Pro966Ala) c.2563C>G (p.Pro855Ala) | |
7 | g.117603680C>T | CA368986956 | CFTR | c.2806C>T (p.Pro936Ser) c.*2520C>T (n.*2520C>T) c.2623C>T (p.Pro875Ser) c.*1106C>T (n.*1106C>T) c.*2630C>T (n.*2630C>T) c.2380C>T (p.Pro794Ser) c.397C>T (p.Pro133Ser) c.456C>T c.1588C>T (p.Pro530Ser) c.2716C>T (p.Pro906Ser) c.2896C>T (p.Pro966Ser) c.2563C>T (p.Pro855Ser) | ClinVar gnomAD v4 |
7 | g.117603681del | CA577680774 | CFTR | c.2807del (p.Pro936HisfsTer6) c.*2521del (n.*2521del) c.2624del (p.Pro875HisfsTer6) c.*1107del (n.*1107del) c.*2631del (n.*2631del) c.2381del (p.Pro794HisfsTer6) c.398del (p.Pro133HisfsTer6) c.457del c.1589del (p.Pro530HisfsTer6) c.2717del (p.Pro906HisfsTer6) c.2897del (p.Pro966HisfsTer6) c.2564del (p.Pro855HisfsTer6) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603681C>A | CA368986966 | CFTR | c.2807C>A (p.Pro936Gln) c.*2521C>A (n.*2521C>A) c.2624C>A (p.Pro875Gln) c.*1107C>A (n.*1107C>A) c.*2631C>A (n.*2631C>A) c.2381C>A (p.Pro794Gln) c.398C>A (p.Pro133Gln) c.457C>A c.1589C>A (p.Pro530Gln) c.2717C>A (p.Pro906Gln) c.2897C>A (p.Pro966Gln) c.2564C>A (p.Pro855Gln) | |
7 | g.117603681C= | CA1737375101 | CFTR | c.2807C= (p.Pro936=) c.*2521C= (n.*2521C=) c.2624C= (p.Pro875=) c.*1107C= (n.*1107C=) c.*2631C= (n.*2631C=) c.2381C= (p.Pro794=) c.398C= (p.Pro133=) c.457C= c.1589C= (p.Pro530=) c.2717C= (p.Pro906=) c.2897C= (p.Pro966=) c.2564C= (p.Pro855=) | |
7 | g.117603681C>G | CA368986971 | CFTR | c.2807C>G (p.Pro936Arg) c.*2521C>G (n.*2521C>G) c.2624C>G (p.Pro875Arg) c.*1107C>G (n.*1107C>G) c.*2631C>G (n.*2631C>G) c.2381C>G (p.Pro794Arg) c.398C>G (p.Pro133Arg) c.457C>G c.1589C>G (p.Pro530Arg) c.2717C>G (p.Pro906Arg) c.2897C>G (p.Pro966Arg) c.2564C>G (p.Pro855Arg) | ClinVar |
7 | g.117603681C>T | CA368986969 | CFTR | c.2807C>T (p.Pro936Leu) c.*2521C>T (n.*2521C>T) c.2624C>T (p.Pro875Leu) c.*1107C>T (n.*1107C>T) c.*2631C>T (n.*2631C>T) c.2381C>T (p.Pro794Leu) c.398C>T (p.Pro133Leu) c.457C>T c.1589C>T (p.Pro530Leu) c.2717C>T (p.Pro906Leu) c.2897C>T (p.Pro966Leu) c.2564C>T (p.Pro855Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603682A= | CA1737375109 | CFTR | c.2808A= (p.Pro936=) c.*2522A= (n.*2522A=) c.2625A= (p.Pro875=) c.*1108A= (n.*1108A=) c.*2632A= (n.*2632A=) c.2382A= (p.Pro794=) c.399A= (p.Pro133=) c.458A= c.1590A= (p.Pro530=) c.2718A= (p.Pro906=) c.2898A= (p.Pro966=) c.2565A= (p.Pro855=) | |
7 | g.117603682A>C | CA457227986 | CFTR | c.2808A>C (p.Pro936=) c.*2522A>C (n.*2522A>C) c.2625A>C (p.Pro875=) c.*1108A>C (n.*1108A>C) c.*2632A>C (n.*2632A>C) c.2382A>C (p.Pro794=) c.399A>C (p.Pro133=) c.458A>C c.1590A>C (p.Pro530=) c.2718A>C (p.Pro906=) c.2898A>C (p.Pro966=) c.2565A>C (p.Pro855=) | |
7 | g.117603682A>G | CA326931 | CFTR | c.2808A>G (p.Pro936=) c.*2522A>G (n.*2522A>G) c.2625A>G (p.Pro875=) c.*1108A>G (n.*1108A>G) c.*2632A>G (n.*2632A>G) c.2382A>G (p.Pro794=) c.399A>G (p.Pro133=) c.458A>G c.1590A>G (p.Pro530=) c.2718A>G (p.Pro906=) c.2898A>G (p.Pro966=) c.2565A>G (p.Pro855=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603682A>T | CA457227987 | CFTR | c.2808A>T (p.Pro936=) c.*2522A>T (n.*2522A>T) c.2625A>T (p.Pro875=) c.*1108A>T (n.*1108A>T) c.*2632A>T (n.*2632A>T) c.2382A>T (p.Pro794=) c.399A>T (p.Pro133=) c.458A>T c.1590A>T (p.Pro530=) c.2718A>T (p.Pro906=) c.2898A>T (p.Pro966=) c.2565A>T (p.Pro855=) | |
7 | g.117603683C>A | CA368986978 | CFTR | c.2809C>A (p.Leu937Met) c.*2523C>A (n.*2523C>A) c.2626C>A (p.Leu876Met) c.*1109C>A (n.*1109C>A) c.*2633C>A (n.*2633C>A) c.2383C>A (p.Leu795Met) c.400C>A (p.Leu134Met) c.459C>A c.1591C>A (p.Leu531Met) c.2719C>A (p.Leu907Met) c.2899C>A (p.Leu967Met) c.2566C>A (p.Leu856Met) | |
7 | g.117603683C= | CA1737375113 | CFTR | c.2809C= (p.Leu937=) c.*2523C= (n.*2523C=) c.2626C= (p.Leu876=) c.*1109C= (n.*1109C=) c.*2633C= (n.*2633C=) c.2383C= (p.Leu795=) c.400C= (p.Leu134=) c.459C= c.1591C= (p.Leu531=) c.2719C= (p.Leu907=) c.2899C= (p.Leu967=) c.2566C= (p.Leu856=) | |
7 | g.117603683C>G | CA368986976 | CFTR | c.2809C>G (p.Leu937Val) c.*2523C>G (n.*2523C>G) c.2626C>G (p.Leu876Val) c.*1109C>G (n.*1109C>G) c.*2633C>G (n.*2633C>G) c.2383C>G (p.Leu795Val) c.400C>G (p.Leu134Val) c.459C>G c.1591C>G (p.Leu531Val) c.2719C>G (p.Leu907Val) c.2899C>G (p.Leu967Val) c.2566C>G (p.Leu856Val) | ClinVar gnomAD v4 |
7 | g.117603683C>T | CA457227988 | CFTR | c.2809C>T (p.Leu937=) c.*2523C>T (n.*2523C>T) c.2626C>T (p.Leu876=) c.*1109C>T (n.*1109C>T) c.*2633C>T (n.*2633C>T) c.2383C>T (p.Leu795=) c.400C>T (p.Leu134=) c.459C>T c.1591C>T (p.Leu531=) c.2719C>T (p.Leu907=) c.2899C>T (p.Leu967=) c.2566C>T (p.Leu856=) | |
7 | g.117603683_117603686delinsCTGG | CA1737375114 | CFTR | c.2809_2812delinsCTGG (p.Leu937=) c.*2523_*2526delinsCTGG (n.*2523_*2526delinsCTGG) c.2626_2629delinsCTGG (p.Leu876=) c.*1109_*1112delinsCTGG (n.*1109_*1112delinsCTGG) c.*2633_*2636delinsCTGG (n.*2633_*2636delinsCTGG) c.2383_2386delinsCTGG (p.Leu795=) c.400_403delinsCTGG (p.Leu134=) c.459_462delinsCTGG c.1591_1594delinsCTGG (p.Leu531=) c.2719_2722delinsCTGG (p.Leu907=) c.2899_2902delinsCTGG (p.Leu967=) c.2566_2569delinsCTGG (p.Leu856=) | |
7 | g.117603684T>A | CA368986985 | CFTR | c.2810T>A (p.Leu937Gln) c.*2524T>A (n.*2524T>A) c.2627T>A (p.Leu876Gln) c.*1110T>A (n.*1110T>A) c.*2634T>A (n.*2634T>A) c.2384T>A (p.Leu795Gln) c.401T>A (p.Leu134Gln) c.460T>A c.1592T>A (p.Leu531Gln) c.2720T>A (p.Leu907Gln) c.2900T>A (p.Leu967Gln) c.2567T>A (p.Leu856Gln) | gnomAD v4 |
7 | g.117603684T>C | CA368986980 | CFTR | c.2810T>C (p.Leu937Pro) c.*2524T>C (n.*2524T>C) c.2627T>C (p.Leu876Pro) c.*1110T>C (n.*1110T>C) c.*2634T>C (n.*2634T>C) c.2384T>C (p.Leu795Pro) c.401T>C (p.Leu134Pro) c.460T>C c.1592T>C (p.Leu531Pro) c.2720T>C (p.Leu907Pro) c.2900T>C (p.Leu967Pro) c.2567T>C (p.Leu856Pro) | ClinVar |
7 | g.117603684T>G | CA368986984 | CFTR | c.2810T>G (p.Leu937Arg) c.*2524T>G (n.*2524T>G) c.2627T>G (p.Leu876Arg) c.*1110T>G (n.*1110T>G) c.*2634T>G (n.*2634T>G) c.2384T>G (p.Leu795Arg) c.401T>G (p.Leu134Arg) c.460T>G c.1592T>G (p.Leu531Arg) c.2720T>G (p.Leu907Arg) c.2900T>G (p.Leu967Arg) c.2567T>G (p.Leu856Arg) | |
7 | g.117603684T= | CA1737375131 | CFTR | c.2810T= (p.Leu937=) c.*2524T= (n.*2524T=) c.2627T= (p.Leu876=) c.*1110T= (n.*1110T=) c.*2634T= (n.*2634T=) c.2384T= (p.Leu795=) c.401T= (p.Leu134=) c.460T= c.1592T= (p.Leu531=) c.2720T= (p.Leu907=) c.2900T= (p.Leu967=) c.2567T= (p.Leu856=) | |
7 | g.117603684dup | CA260224 | CFTR | c.2810dup (p.Val938GlyfsTer?) c.*2524dup (n.*2524dup) c.2627dup (p.Val877GlyfsTer?) c.*1110dup (n.*1110dup) c.*2634dup (n.*2634dup) c.2384dup (p.Val796GlyfsTer?) c.401dup (p.Val135GlyfsTer?) c.460dup c.1592dup (p.Val532GlyfsTer?) c.2720dup (p.Val908GlyfsTer?) c.2900dup (p.Val968GlyfsTer?) c.2567dup (p.Val857GlyfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117603686_117603688del | CA577680775 | CFTR | c.2812_2814del (p.Val938del) c.*2526_*2528del (n.*2526_*2528del) c.2629_2631del (p.Val877del) c.*1112_*1114del (n.*1112_*1114del) c.*2636_*2638del (n.*2636_*2638del) c.2386_2388del (p.Val796del) c.403_405del (p.Val135del) c.462_464del c.1594_1596del (p.Val532del) c.2722_2724del (p.Val908del) c.2902_2904del (p.Val968del) c.2569_2571del (p.Val857del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603685G>A | CA457227989 | CFTR | c.2811G>A (p.Leu937=) c.*2525G>A (n.*2525G>A) c.2628G>A (p.Leu876=) c.*1111G>A (n.*1111G>A) c.*2635G>A (n.*2635G>A) c.2385G>A (p.Leu795=) c.402G>A (p.Leu134=) c.461G>A c.1593G>A (p.Leu531=) c.2721G>A (p.Leu907=) c.2901G>A (p.Leu967=) c.2568G>A (p.Leu856=) | |
7 | g.117603685G>C | CA457227990 | CFTR | c.2811G>C (p.Leu937=) c.*2525G>C (n.*2525G>C) c.2628G>C (p.Leu876=) c.*1111G>C (n.*1111G>C) c.*2635G>C (n.*2635G>C) c.2385G>C (p.Leu795=) c.402G>C (p.Leu134=) c.461G>C c.1593G>C (p.Leu531=) c.2721G>C (p.Leu907=) c.2901G>C (p.Leu967=) c.2568G>C (p.Leu856=) | |
7 | g.117603685G>T | CA457227991 | CFTR | c.2811G>T (p.Leu937=) c.*2525G>T (n.*2525G>T) c.2628G>T (p.Leu876=) c.*1111G>T (n.*1111G>T) c.*2635G>T (n.*2635G>T) c.2385G>T (p.Leu795=) c.402G>T (p.Leu134=) c.461G>T c.1593G>T (p.Leu531=) c.2721G>T (p.Leu907=) c.2901G>T (p.Leu967=) c.2568G>T (p.Leu856=) | ClinVar |
7 | g.117603686dup | CA913190198 | CFTR | c.2812dup (p.Val938GlyfsTer?) c.*2526dup (n.*2526dup) c.2629dup (p.Val877GlyfsTer?) c.*1112dup (n.*1112dup) c.*2636dup (n.*2636dup) c.2386dup (p.Val796GlyfsTer?) c.403dup (p.Val135GlyfsTer?) c.462dup c.1594dup (p.Val532GlyfsTer?) c.2722dup (p.Val908GlyfsTer?) c.2902dup (p.Val968GlyfsTer?) c.2569dup (p.Val857GlyfsTer?) | ClinVar dbSNP |
7 | g.117603686G>A | CA164960239 | CFTR | c.2812G>A (p.Val938Met) c.*2526G>A (n.*2526G>A) c.2629G>A (p.Val877Met) c.*1112G>A (n.*1112G>A) c.*2636G>A (n.*2636G>A) c.2386G>A (p.Val796Met) c.403G>A (p.Val135Met) c.462G>A c.1594G>A (p.Val532Met) c.2722G>A (p.Val908Met) c.2902G>A (p.Val968Met) c.2569G>A (p.Val857Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603686G>C | CA4451291 | CFTR | c.2812G>C (p.Val938Leu) c.*2526G>C (n.*2526G>C) c.2629G>C (p.Val877Leu) c.*1112G>C (n.*1112G>C) c.*2636G>C (n.*2636G>C) c.2386G>C (p.Val796Leu) c.403G>C (p.Val135Leu) c.462G>C c.1594G>C (p.Val532Leu) c.2722G>C (p.Val908Leu) c.2902G>C (p.Val968Leu) c.2569G>C (p.Val857Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603686G= | CA1737375160 | CFTR | c.2812G= (p.Val938=) c.*2526G= (n.*2526G=) c.2629G= (p.Val877=) c.*1112G= (n.*1112G=) c.*2636G= (n.*2636G=) c.2386G= (p.Val796=) c.403G= (p.Val135=) c.462G= c.1594G= (p.Val532=) c.2722G= (p.Val908=) c.2902G= (p.Val968=) c.2569G= (p.Val857=) | |
7 | g.117603686G>T | CA4451292 | CFTR | c.2812G>T (p.Val938Leu) c.*2526G>T (n.*2526G>T) c.2629G>T (p.Val877Leu) c.*1112G>T (n.*1112G>T) c.*2636G>T (n.*2636G>T) c.2386G>T (p.Val796Leu) c.403G>T (p.Val135Leu) c.462G>T c.1594G>T (p.Val532Leu) c.2722G>T (p.Val908Leu) c.2902G>T (p.Val968Leu) c.2569G>T (p.Val857Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603687T>A | CA368986997 | CFTR | c.2813T>A (p.Val938Glu) c.*2527T>A (n.*2527T>A) c.2630T>A (p.Val877Glu) c.*1113T>A (n.*1113T>A) c.*2637T>A (n.*2637T>A) c.2387T>A (p.Val796Glu) c.404T>A (p.Val135Glu) c.463T>A c.1595T>A (p.Val532Glu) c.2723T>A (p.Val908Glu) c.2903T>A (p.Val968Glu) c.2570T>A (p.Val857Glu) | |
7 | g.117603687T>C | CA368987000 | CFTR | c.2813T>C (p.Val938Ala) c.*2527T>C (n.*2527T>C) c.2630T>C (p.Val877Ala) c.*1113T>C (n.*1113T>C) c.*2637T>C (n.*2637T>C) c.2387T>C (p.Val796Ala) c.404T>C (p.Val135Ala) c.463T>C c.1595T>C (p.Val532Ala) c.2723T>C (p.Val908Ala) c.2903T>C (p.Val968Ala) c.2570T>C (p.Val857Ala) | |
7 | g.117603687T>G | CA260225 | CFTR | c.2813T>G (p.Val938Gly) c.*2527T>G (n.*2527T>G) c.2630T>G (p.Val877Gly) c.*1113T>G (n.*1113T>G) c.*2637T>G (n.*2637T>G) c.2387T>G (p.Val796Gly) c.404T>G (p.Val135Gly) c.463T>G c.1595T>G (p.Val532Gly) c.2723T>G (p.Val908Gly) c.2903T>G (p.Val968Gly) c.2570T>G (p.Val857Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603687T= | CA1737375168 | CFTR | c.2813T= (p.Val938=) c.*2527T= (n.*2527T=) c.2630T= (p.Val877=) c.*1113T= (n.*1113T=) c.*2637T= (n.*2637T=) c.2387T= (p.Val796=) c.404T= (p.Val135=) c.463T= c.1595T= (p.Val532=) c.2723T= (p.Val908=) c.2903T= (p.Val968=) c.2570T= (p.Val857=) | |
7 | g.117603688G>A | CA457227993 | CFTR | c.2814G>A (p.Val938=) c.*2528G>A (n.*2528G>A) c.2631G>A (p.Val877=) c.*1114G>A (n.*1114G>A) c.*2638G>A (n.*2638G>A) c.2388G>A (p.Val796=) c.405G>A (p.Val135=) c.464G>A c.1596G>A (p.Val532=) c.2724G>A (p.Val908=) c.2904G>A (p.Val968=) c.2571G>A (p.Val857=) | |
7 | g.117603688G>C | CA457227994 | CFTR | c.2814G>C (p.Val938=) c.*2528G>C (n.*2528G>C) c.2631G>C (p.Val877=) c.*1114G>C (n.*1114G>C) c.*2638G>C (n.*2638G>C) c.2388G>C (p.Val796=) c.405G>C (p.Val135=) c.464G>C c.1596G>C (p.Val532=) c.2724G>C (p.Val908=) c.2904G>C (p.Val968=) c.2571G>C (p.Val857=) | |
7 | g.117603688G>T | CA457227995 | CFTR | c.2814G>T (p.Val938=) c.*2528G>T (n.*2528G>T) c.2631G>T (p.Val877=) c.*1114G>T (n.*1114G>T) c.*2638G>T (n.*2638G>T) c.2388G>T (p.Val796=) c.405G>T (p.Val135=) c.464G>T c.1596G>T (p.Val532=) c.2724G>T (p.Val908=) c.2904G>T (p.Val968=) c.2571G>T (p.Val857=) | |
7 | g.117603689C>A | CA368987005 | CFTR | c.2815C>A (p.His939Asn) c.*2529C>A (n.*2529C>A) c.2632C>A (p.His878Asn) c.*1115C>A (n.*1115C>A) c.*2639C>A (n.*2639C>A) c.2389C>A (p.His797Asn) c.406C>A (p.His136Asn) c.465C>A c.1597C>A (p.His533Asn) c.2725C>A (p.His909Asn) c.2905C>A (p.His969Asn) c.2572C>A (p.His858Asn) | |
7 | g.117603689C= | CA1737375185 | CFTR | c.2815C= (p.His939=) c.*2529C= (n.*2529C=) c.2632C= (p.His878=) c.*1115C= (n.*1115C=) c.*2639C= (n.*2639C=) c.2389C= (p.His797=) c.406C= (p.His136=) c.465C= c.1597C= (p.His533=) c.2725C= (p.His909=) c.2905C= (p.His969=) c.2572C= (p.His858=) | |
7 | g.117603689C>G | CA326933 | CFTR | c.2815C>G (p.His939Asp) c.*2529C>G (n.*2529C>G) c.2632C>G (p.His878Asp) c.*1115C>G (n.*1115C>G) c.*2639C>G (n.*2639C>G) c.2389C>G (p.His797Asp) c.406C>G (p.His136Asp) c.465C>G c.1597C>G (p.His533Asp) c.2725C>G (p.His909Asp) c.2905C>G (p.His969Asp) c.2572C>G (p.His858Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603689C>T | CA368987010 | CFTR | c.2815C>T (p.His939Tyr) c.*2529C>T (n.*2529C>T) c.2632C>T (p.His878Tyr) c.*1115C>T (n.*1115C>T) c.*2639C>T (n.*2639C>T) c.2389C>T (p.His797Tyr) c.406C>T (p.His136Tyr) c.465C>T c.1597C>T (p.His533Tyr) c.2725C>T (p.His909Tyr) c.2905C>T (p.His969Tyr) c.2572C>T (p.His858Tyr) | |
7 | g.117603690A= | CA1737375199 | CFTR | c.2816A= (p.His939=) c.*2530A= (n.*2530A=) c.2633A= (p.His878=) c.*1116A= (n.*1116A=) c.*2640A= (n.*2640A=) c.2390A= (p.His797=) c.407A= (p.His136=) c.466A= c.1598A= (p.His533=) c.2726A= (p.His909=) c.2906A= (p.His969=) c.2573A= (p.His858=) | |
7 | g.117603690A>C | CA368987019 | CFTR | c.2816A>C (p.His939Pro) c.*2530A>C (n.*2530A>C) c.2633A>C (p.His878Pro) c.*1116A>C (n.*1116A>C) c.*2640A>C (n.*2640A>C) c.2390A>C (p.His797Pro) c.407A>C (p.His136Pro) c.466A>C c.1598A>C (p.His533Pro) c.2726A>C (p.His909Pro) c.2906A>C (p.His969Pro) c.2573A>C (p.His858Pro) | |
7 | g.117603690A>G | CA326935 | CFTR | c.2816A>G (p.His939Arg) c.*2530A>G (n.*2530A>G) c.2633A>G (p.His878Arg) c.*1116A>G (n.*1116A>G) c.*2640A>G (n.*2640A>G) c.2390A>G (p.His797Arg) c.407A>G (p.His136Arg) c.466A>G c.1598A>G (p.His533Arg) c.2726A>G (p.His909Arg) c.2906A>G (p.His969Arg) c.2573A>G (p.His858Arg) | ClinVar dbSNP |
7 | g.[117603690A>G;117603720A>T] | CA2499306165 | CFTR | c.[2816A>G;2846A>T] (p.[His939Arg;His949Leu]) c.[*2530A>G;*2560A>T] (n.[*2530A>G;*2560A>T]) c.[2633A>G;2663A>T] (p.[His878Arg;His888Leu]) c.[*1116A>G;*1146A>T] (n.[*1116A>G;*1146A>T]) c.[*2640A>G;*2670A>T] (n.[*2640A>G;*2670A>T]) c.[2390A>G;2420A>T] (p.[His797Arg;His807Leu]) c.[407A>G;437A>T] (p.[His136Arg;His146Leu]) c.[466A>G;496A>T] c.[1598A>G;1628A>T] (p.[His533Arg;His543Leu]) c.[2726A>G;2756A>T] (p.[His909Arg;His919Leu]) c.[2906A>G;2936A>T] (p.[His969Arg;His979Leu]) c.[2573A>G;2603A>T] (p.[His858Arg;His868Leu]) | |
7 | g.117603690A>T | CA368987014 | CFTR | c.2816A>T (p.His939Leu) c.*2530A>T (n.*2530A>T) c.2633A>T (p.His878Leu) c.*1116A>T (n.*1116A>T) c.*2640A>T (n.*2640A>T) c.2390A>T (p.His797Leu) c.407A>T (p.His136Leu) c.466A>T c.1598A>T (p.His533Leu) c.2726A>T (p.His909Leu) c.2906A>T (p.His969Leu) c.2573A>T (p.His858Leu) | |
7 | g.117603690_117603691delinsC | CA2695208422 | CFTR | c.2816_2817delinsC (p.His939ProfsTer3) c.*2530_*2531delinsC (n.*2530_*2531delinsC) c.2633_2634delinsC (p.His878ProfsTer3) c.*1116_*1117delinsC (n.*1116_*1117delinsC) c.*2640_*2641delinsC (n.*2640_*2641delinsC) c.2390_2391delinsC (p.His797ProfsTer3) c.407_408delinsC (p.His136ProfsTer3) c.466_467delinsC c.1598_1599delinsC (p.His533ProfsTer3) c.2726_2727delinsC (p.His909ProfsTer3) c.2906_2907delinsC (p.His969ProfsTer3) c.2573_2574delinsC (p.His858ProfsTer3) | |
7 | g.117603691T>A | CA4451293 | CFTR | c.2817T>A (p.His939Gln) c.*2531T>A (n.*2531T>A) c.2634T>A (p.His878Gln) c.*1117T>A (n.*1117T>A) c.*2641T>A (n.*2641T>A) c.2391T>A (p.His797Gln) c.408T>A (p.His136Gln) c.467T>A c.1599T>A (p.His533Gln) c.2727T>A (p.His909Gln) c.2907T>A (p.His969Gln) c.2574T>A (p.His858Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603691T>C | CA457227996 | CFTR | c.2817T>C (p.His939=) c.*2531T>C (n.*2531T>C) c.2634T>C (p.His878=) c.*1117T>C (n.*1117T>C) c.*2641T>C (n.*2641T>C) c.2391T>C (p.His797=) c.408T>C (p.His136=) c.467T>C c.1599T>C (p.His533=) c.2727T>C (p.His909=) c.2907T>C (p.His969=) c.2574T>C (p.His858=) | ClinVar dbSNP |
7 | g.117603691T>G | CA368987025 | CFTR | c.2817T>G (p.His939Gln) c.*2531T>G (n.*2531T>G) c.2634T>G (p.His878Gln) c.*1117T>G (n.*1117T>G) c.*2641T>G (n.*2641T>G) c.2391T>G (p.His797Gln) c.408T>G (p.His136Gln) c.467T>G c.1599T>G (p.His533Gln) c.2727T>G (p.His909Gln) c.2907T>G (p.His969Gln) c.2574T>G (p.His858Gln) | |
7 | g.117603691T= | CA1737375202 | CFTR | c.2817T= (p.His939=) c.*2531T= (n.*2531T=) c.2634T= (p.His878=) c.*1117T= (n.*1117T=) c.*2641T= (n.*2641T=) c.2391T= (p.His797=) c.408T= (p.His136=) c.467T= c.1599T= (p.His533=) c.2727T= (p.His909=) c.2907T= (p.His969=) c.2574T= (p.His858=) | |
7 | g.117603693_117603697del | CA2580617448 | CFTR | c.2819_2823del (p.Thr940AsnfsTer?) c.*2533_*2537del (n.*2533_*2537del) c.2636_2640del (p.Thr879AsnfsTer?) c.*1119_*1123del (n.*1119_*1123del) c.*2643_*2647del (n.*2643_*2647del) c.2393_2397del (p.Thr798AsnfsTer?) c.410_414del (p.Thr137AsnfsTer?) c.469_473del c.1601_1605del (p.Thr534AsnfsTer?) c.2729_2733del (p.Thr910AsnfsTer?) c.2909_2913del (p.Thr970AsnfsTer?) c.2576_2580del (p.Thr859AsnfsTer?) | ClinVar |
7 | g.117603692_117603705del | CA2697557581 | CFTR | c.2818_2831del (p.Thr940ValfsTer30) c.*2532_*2545del (n.*2532_*2545del) c.2635_2648del (p.Thr879ValfsTer30) c.*1118_*1131del (n.*1118_*1131del) c.*2642_*2655del (n.*2642_*2655del) c.2392_2405del (p.Thr798ValfsTer30) c.409_422del (p.Thr137ValfsTer30) c.468_481del c.1600_1613del (p.Thr534ValfsTer30) c.2728_2741del (p.Thr910ValfsTer30) c.2908_2921del (p.Thr970ValfsTer30) c.2575_2588del (p.Thr859ValfsTer30) | ClinVar |
7 | g.117603692A>C | CA368987028 | CFTR | c.2818A>C (p.Thr940Pro) c.*2532A>C (n.*2532A>C) c.2635A>C (p.Thr879Pro) c.*1118A>C (n.*1118A>C) c.*2642A>C (n.*2642A>C) c.2392A>C (p.Thr798Pro) c.409A>C (p.Thr137Pro) c.468A>C c.1600A>C (p.Thr534Pro) c.2728A>C (p.Thr910Pro) c.2908A>C (p.Thr970Pro) c.2575A>C (p.Thr859Pro) | |
7 | g.117603692A>G | CA368987030 | CFTR | c.2818A>G (p.Thr940Ala) c.*2532A>G (n.*2532A>G) c.2635A>G (p.Thr879Ala) c.*1118A>G (n.*1118A>G) c.*2642A>G (n.*2642A>G) c.2392A>G (p.Thr798Ala) c.409A>G (p.Thr137Ala) c.468A>G c.1600A>G (p.Thr534Ala) c.2728A>G (p.Thr910Ala) c.2908A>G (p.Thr970Ala) c.2575A>G (p.Thr859Ala) | gnomAD v4 |
7 | g.117603692A>T | CA368987034 | CFTR | c.2818A>T (p.Thr940Ser) c.*2532A>T (n.*2532A>T) c.2635A>T (p.Thr879Ser) c.*1118A>T (n.*1118A>T) c.*2642A>T (n.*2642A>T) c.2392A>T (p.Thr798Ser) c.409A>T (p.Thr137Ser) c.468A>T c.1600A>T (p.Thr534Ser) c.2728A>T (p.Thr910Ser) c.2908A>T (p.Thr970Ser) c.2575A>T (p.Thr859Ser) | |
7 | g.117603692dup | CA2580614240 | CFTR | c.2818dup (p.Thr940AsnfsTer?) c.*2532dup (n.*2532dup) c.2635dup (p.Thr879AsnfsTer?) c.*1118dup (n.*1118dup) c.*2642dup (n.*2642dup) c.2392dup (p.Thr798AsnfsTer?) c.409dup (p.Thr137AsnfsTer?) c.468dup c.1600dup (p.Thr534AsnfsTer?) c.2728dup (p.Thr910AsnfsTer?) c.2908dup (p.Thr970AsnfsTer?) c.2575dup (p.Thr859AsnfsTer?) | ClinVar |
7 | g.117603692_117603693del | CA2837240847 | CFTR | c.2818_2819del (p.Thr940SerfsTer?) c.*2532_*2533del (n.*2532_*2533del) c.2635_2636del (p.Thr879SerfsTer?) c.*1118_*1119del (n.*1118_*1119del) c.*2642_*2643del (n.*2642_*2643del) c.2392_2393del (p.Thr798SerfsTer?) c.409_410del (p.Thr137SerfsTer?) c.468_469del c.1600_1601del (p.Thr534SerfsTer?) c.2728_2729del (p.Thr910SerfsTer?) c.2908_2909del (p.Thr970SerfsTer?) c.2575_2576del (p.Thr859SerfsTer?) | |
7 | g.117603693C>A | CA368987037 | CFTR | c.2819C>A (p.Thr940Asn) c.*2533C>A (n.*2533C>A) c.2636C>A (p.Thr879Asn) c.*1119C>A (n.*1119C>A) c.*2643C>A (n.*2643C>A) c.2393C>A (p.Thr798Asn) c.410C>A (p.Thr137Asn) c.469C>A c.1601C>A (p.Thr534Asn) c.2729C>A (p.Thr910Asn) c.2909C>A (p.Thr970Asn) c.2576C>A (p.Thr859Asn) | |
7 | g.117603693C= | CA1737375205 | CFTR | c.2819C= (p.Thr940=) c.*2533C= (n.*2533C=) c.2636C= (p.Thr879=) c.*1119C= (n.*1119C=) c.*2643C= (n.*2643C=) c.2393C= (p.Thr798=) c.410C= (p.Thr137=) c.469C= c.1601C= (p.Thr534=) c.2729C= (p.Thr910=) c.2909C= (p.Thr970=) c.2576C= (p.Thr859=) | |
7 | g.117603693C>G | CA368987041 | CFTR | c.2819C>G (p.Thr940Ser) c.*2533C>G (n.*2533C>G) c.2636C>G (p.Thr879Ser) c.*1119C>G (n.*1119C>G) c.*2643C>G (n.*2643C>G) c.2393C>G (p.Thr798Ser) c.410C>G (p.Thr137Ser) c.469C>G c.1601C>G (p.Thr534Ser) c.2729C>G (p.Thr910Ser) c.2909C>G (p.Thr970Ser) c.2576C>G (p.Thr859Ser) | |
7 | g.117603693C>T | CA4451294 | CFTR | c.2819C>T (p.Thr940Ile) c.*2533C>T (n.*2533C>T) c.2636C>T (p.Thr879Ile) c.*1119C>T (n.*1119C>T) c.*2643C>T (n.*2643C>T) c.2393C>T (p.Thr798Ile) c.410C>T (p.Thr137Ile) c.469C>T c.1601C>T (p.Thr534Ile) c.2729C>T (p.Thr910Ile) c.2909C>T (p.Thr970Ile) c.2576C>T (p.Thr859Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603695_117603696del | CA913111890 | CFTR | c.2821_2822del (p.Leu941AsnfsTer?) c.*2535_*2536del (n.*2535_*2536del) c.2638_2639del (p.Leu880AsnfsTer?) c.*1121_*1122del (n.*1121_*1122del) c.*2645_*2646del (n.*2645_*2646del) c.2395_2396del (p.Leu799AsnfsTer?) c.412_413del (p.Leu138AsnfsTer?) c.471_472del c.1603_1604del (p.Leu535AsnfsTer?) c.2731_2732del (p.Leu911AsnfsTer?) c.2911_2912del (p.Leu971AsnfsTer?) c.2578_2579del (p.Leu860AsnfsTer?) | |
7 | g.117603694T>A | CA457227997 | CFTR | c.2820T>A (p.Thr940=) c.*2534T>A (n.*2534T>A) c.2637T>A (p.Thr879=) c.*1120T>A (n.*1120T>A) c.*2644T>A (n.*2644T>A) c.2394T>A (p.Thr798=) c.411T>A (p.Thr137=) c.470T>A c.1602T>A (p.Thr534=) c.2730T>A (p.Thr910=) c.2910T>A (p.Thr970=) c.2577T>A (p.Thr859=) | |
7 | g.117603694T>C | CA457227998 | CFTR | c.2820T>C (p.Thr940=) c.*2534T>C (n.*2534T>C) c.2637T>C (p.Thr879=) c.*1120T>C (n.*1120T>C) c.*2644T>C (n.*2644T>C) c.2394T>C (p.Thr798=) c.411T>C (p.Thr137=) c.470T>C c.1602T>C (p.Thr534=) c.2730T>C (p.Thr910=) c.2910T>C (p.Thr970=) c.2577T>C (p.Thr859=) | ClinVar dbSNP |
7 | g.117603694T>G | CA221016 | CFTR | c.2820T>G (p.Thr940=) c.*2534T>G (n.*2534T>G) c.2637T>G (p.Thr879=) c.*1120T>G (n.*1120T>G) c.*2644T>G (n.*2644T>G) c.2394T>G (p.Thr798=) c.411T>G (p.Thr137=) c.470T>G c.1602T>G (p.Thr534=) c.2730T>G (p.Thr910=) c.2910T>G (p.Thr970=) c.2577T>G (p.Thr859=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117603694T= | CA1737375216 | CFTR | c.2820T= (p.Thr940=) c.*2534T= (n.*2534T=) c.2637T= (p.Thr879=) c.*1120T= (n.*1120T=) c.*2644T= (n.*2644T=) c.2394T= (p.Thr798=) c.411T= (p.Thr137=) c.470T= c.1602T= (p.Thr534=) c.2730T= (p.Thr910=) c.2910T= (p.Thr970=) c.2577T= (p.Thr859=) | |
7 | g.117603695C>A | CA368987049 | CFTR | c.2821C>A (p.Leu941Ile) c.*2535C>A (n.*2535C>A) c.2638C>A (p.Leu880Ile) c.*1121C>A (n.*1121C>A) c.*2645C>A (n.*2645C>A) c.2395C>A (p.Leu799Ile) c.412C>A (p.Leu138Ile) c.471C>A c.1603C>A (p.Leu535Ile) c.2731C>A (p.Leu911Ile) c.2911C>A (p.Leu971Ile) c.2578C>A (p.Leu860Ile) | |
7 | g.117603695C>G | CA368987052 | CFTR | c.2821C>G (p.Leu941Val) c.*2535C>G (n.*2535C>G) c.2638C>G (p.Leu880Val) c.*1121C>G (n.*1121C>G) c.*2645C>G (n.*2645C>G) c.2395C>G (p.Leu799Val) c.412C>G (p.Leu138Val) c.471C>G c.1603C>G (p.Leu535Val) c.2731C>G (p.Leu911Val) c.2911C>G (p.Leu971Val) c.2578C>G (p.Leu860Val) | gnomAD v4 |
7 | g.117603695C>T | CA457227999 | CFTR | c.2821C>T (p.Leu941=) c.*2535C>T (n.*2535C>T) c.2638C>T (p.Leu880=) c.*1121C>T (n.*1121C>T) c.*2645C>T (n.*2645C>T) c.2395C>T (p.Leu799=) c.412C>T (p.Leu138=) c.471C>T c.1603C>T (p.Leu535=) c.2731C>T (p.Leu911=) c.2911C>T (p.Leu971=) c.2578C>T (p.Leu860=) | |
7 | g.117603695_117603696delinsCT | CA1737375218 | CFTR | c.2821_2822delinsCT (p.Leu941=) c.*2535_*2536delinsCT (n.*2535_*2536delinsCT) c.2638_2639delinsCT (p.Leu880=) c.*1121_*1122delinsCT (n.*1121_*1122delinsCT) c.*2645_*2646delinsCT (n.*2645_*2646delinsCT) c.2395_2396delinsCT (p.Leu799=) c.412_413delinsCT (p.Leu138=) c.471_472delinsCT c.1603_1604delinsCT (p.Leu535=) c.2731_2732delinsCT (p.Leu911=) c.2911_2912delinsCT (p.Leu971=) c.2578_2579delinsCT (p.Leu860=) | |
7 | g.117603696del | CA4451295 | CFTR | c.2822del (p.Leu941GlnfsTer27) c.*2536del (n.*2536del) c.2639del (p.Leu880GlnfsTer27) c.*1122del (n.*1122del) c.*2646del (n.*2646del) c.2396del (p.Leu799GlnfsTer27) c.413del (p.Leu138GlnfsTer27) c.472del c.1604del (p.Leu535GlnfsTer27) c.2732del (p.Leu911GlnfsTer27) c.2912del (p.Leu971GlnfsTer27) c.2579del (p.Leu860GlnfsTer27) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117603696T>A | CA368987061 | CFTR | c.2822T>A (p.Leu941Gln) c.*2536T>A (n.*2536T>A) c.2639T>A (p.Leu880Gln) c.*1122T>A (n.*1122T>A) c.*2646T>A (n.*2646T>A) c.2396T>A (p.Leu799Gln) c.413T>A (p.Leu138Gln) c.472T>A c.1604T>A (p.Leu535Gln) c.2732T>A (p.Leu911Gln) c.2912T>A (p.Leu971Gln) c.2579T>A (p.Leu860Gln) | |
7 | g.117603696T>C | CA368987063 | CFTR | c.2822T>C (p.Leu941Pro) c.*2536T>C (n.*2536T>C) c.2639T>C (p.Leu880Pro) c.*1122T>C (n.*1122T>C) c.*2646T>C (n.*2646T>C) c.2396T>C (p.Leu799Pro) c.413T>C (p.Leu138Pro) c.472T>C c.1604T>C (p.Leu535Pro) c.2732T>C (p.Leu911Pro) c.2912T>C (p.Leu971Pro) c.2579T>C (p.Leu860Pro) | dbSNP |
7 | g.117603696T>G | CA368987058 | CFTR | c.2822T>G (p.Leu941Arg) c.*2536T>G (n.*2536T>G) c.2639T>G (p.Leu880Arg) c.*1122T>G (n.*1122T>G) c.*2646T>G (n.*2646T>G) c.2396T>G (p.Leu799Arg) c.413T>G (p.Leu138Arg) c.472T>G c.1604T>G (p.Leu535Arg) c.2732T>G (p.Leu911Arg) c.2912T>G (p.Leu971Arg) c.2579T>G (p.Leu860Arg) | |
7 | g.117603696T= | CA1737375226 | CFTR | c.2822T= (p.Leu941=) c.*2536T= (n.*2536T=) c.2639T= (p.Leu880=) c.*1122T= (n.*1122T=) c.*2646T= (n.*2646T=) c.2396T= (p.Leu799=) c.413T= (p.Leu138=) c.472T= c.1604T= (p.Leu535=) c.2732T= (p.Leu911=) c.2912T= (p.Leu971=) c.2579T= (p.Leu860=) | |
7 | g.117603697A>C | CA457228002 | CFTR | c.2823A>C (p.Leu941=) c.*2537A>C (n.*2537A>C) c.2640A>C (p.Leu880=) c.*1123A>C (n.*1123A>C) c.*2647A>C (n.*2647A>C) c.2397A>C (p.Leu799=) c.414A>C (p.Leu138=) c.473A>C c.1605A>C (p.Leu535=) c.2733A>C (p.Leu911=) c.2913A>C (p.Leu971=) c.2580A>C (p.Leu860=) | |
7 | g.117603697A>G | CA457228000 | CFTR | c.2823A>G (p.Leu941=) c.*2537A>G (n.*2537A>G) c.2640A>G (p.Leu880=) c.*1123A>G (n.*1123A>G) c.*2647A>G (n.*2647A>G) c.2397A>G (p.Leu799=) c.414A>G (p.Leu138=) c.473A>G c.1605A>G (p.Leu535=) c.2733A>G (p.Leu911=) c.2913A>G (p.Leu971=) c.2580A>G (p.Leu860=) | |
7 | g.117603697A>T | CA457228001 | CFTR | c.2823A>T (p.Leu941=) c.*2537A>T (n.*2537A>T) c.2640A>T (p.Leu880=) c.*1123A>T (n.*1123A>T) c.*2647A>T (n.*2647A>T) c.2397A>T (p.Leu799=) c.414A>T (p.Leu138=) c.473A>T c.1605A>T (p.Leu535=) c.2733A>T (p.Leu911=) c.2913A>T (p.Leu971=) c.2580A>T (p.Leu860=) | |
7 | g.117603698del | CA2580076358 | CFTR | c.2824del (p.Ile942SerfsTer26) c.*2538del (n.*2538del) c.2641del (p.Ile881SerfsTer26) c.*1124del (n.*1124del) c.*2648del (n.*2648del) c.2398del (p.Ile800SerfsTer26) c.415del (p.Ile139SerfsTer26) c.474del c.1606del (p.Ile536SerfsTer26) c.2734del (p.Ile912SerfsTer26) c.2914del (p.Ile972SerfsTer26) c.2581del (p.Ile861SerfsTer26) | ClinVar |
7 | g.117603698A= | CA1737375231 | CFTR | c.2824A= (p.Ile942=) c.*2538A= (n.*2538A=) c.2641A= (p.Ile881=) c.*1124A= (n.*1124A=) c.*2648A= (n.*2648A=) c.2398A= (p.Ile800=) c.415A= (p.Ile139=) c.474A= c.1606A= (p.Ile536=) c.2734A= (p.Ile912=) c.2914A= (p.Ile972=) c.2581A= (p.Ile861=) | |
7 | g.117603698A>C | CA368987066 | CFTR | c.2824A>C (p.Ile942Leu) c.*2538A>C (n.*2538A>C) c.2641A>C (p.Ile881Leu) c.*1124A>C (n.*1124A>C) c.*2648A>C (n.*2648A>C) c.2398A>C (p.Ile800Leu) c.415A>C (p.Ile139Leu) c.474A>C c.1606A>C (p.Ile536Leu) c.2734A>C (p.Ile912Leu) c.2914A>C (p.Ile972Leu) c.2581A>C (p.Ile861Leu) | |
7 | g.117603698A>G | CA368987068 | CFTR | c.2824A>G (p.Ile942Val) c.*2538A>G (n.*2538A>G) c.2641A>G (p.Ile881Val) c.*1124A>G (n.*1124A>G) c.*2648A>G (n.*2648A>G) c.2398A>G (p.Ile800Val) c.415A>G (p.Ile139Val) c.474A>G c.1606A>G (p.Ile536Val) c.2734A>G (p.Ile912Val) c.2914A>G (p.Ile972Val) c.2581A>G (p.Ile861Val) | dbSNP |
7 | g.117603698A>T | CA368987071 | CFTR | c.2824A>T (p.Ile942Phe) c.*2538A>T (n.*2538A>T) c.2641A>T (p.Ile881Phe) c.*1124A>T (n.*1124A>T) c.*2648A>T (n.*2648A>T) c.2398A>T (p.Ile800Phe) c.415A>T (p.Ile139Phe) c.474A>T c.1606A>T (p.Ile536Phe) c.2734A>T (p.Ile912Phe) c.2914A>T (p.Ile972Phe) c.2581A>T (p.Ile861Phe) | |
7 | g.117603698_117603699delinsAT | CA1737375230 | CFTR | c.2824_2825delinsAT (p.Ile942=) c.*2538_*2539delinsAT (n.*2538_*2539delinsAT) c.2641_2642delinsAT (p.Ile881=) c.*1124_*1125delinsAT (n.*1124_*1125delinsAT) c.*2648_*2649delinsAT (n.*2648_*2649delinsAT) c.2398_2399delinsAT (p.Ile800=) c.415_416delinsAT (p.Ile139=) c.474_475delinsAT c.1606_1607delinsAT (p.Ile536=) c.2734_2735delinsAT (p.Ile912=) c.2914_2915delinsAT (p.Ile972=) c.2581_2582delinsAT (p.Ile861=) | |
7 | g.117603699del | CA326937 | CFTR | c.2825del (p.Ile942ThrfsTer26) c.*2539del (n.*2539del) c.2642del (p.Ile881ThrfsTer26) c.*1125del (n.*1125del) c.*2649del (n.*2649del) c.2399del (p.Ile800ThrfsTer26) c.416del (p.Ile139ThrfsTer26) c.475del c.1607del (p.Ile536ThrfsTer26) c.2735del (p.Ile912ThrfsTer26) c.2915del (p.Ile972ThrfsTer26) c.2582del (p.Ile861ThrfsTer26) | ClinVar dbSNP |
7 | g.117603699T>A | CA368987077 | CFTR | c.2825T>A (p.Ile942Asn) c.*2539T>A (n.*2539T>A) c.2642T>A (p.Ile881Asn) c.*1125T>A (n.*1125T>A) c.*2649T>A (n.*2649T>A) c.2399T>A (p.Ile800Asn) c.416T>A (p.Ile139Asn) c.475T>A c.1607T>A (p.Ile536Asn) c.2735T>A (p.Ile912Asn) c.2915T>A (p.Ile972Asn) c.2582T>A (p.Ile861Asn) | |
7 | g.117603699T>C | CA368987079 | CFTR | c.2825T>C (p.Ile942Thr) c.*2539T>C (n.*2539T>C) c.2642T>C (p.Ile881Thr) c.*1125T>C (n.*1125T>C) c.*2649T>C (n.*2649T>C) c.2399T>C (p.Ile800Thr) c.416T>C (p.Ile139Thr) c.475T>C c.1607T>C (p.Ile536Thr) c.2735T>C (p.Ile912Thr) c.2915T>C (p.Ile972Thr) c.2582T>C (p.Ile861Thr) | |
7 | g.117603699T>G | CA368987083 | CFTR | c.2825T>G (p.Ile942Ser) c.*2539T>G (n.*2539T>G) c.2642T>G (p.Ile881Ser) c.*1125T>G (n.*1125T>G) c.*2649T>G (n.*2649T>G) c.2399T>G (p.Ile800Ser) c.416T>G (p.Ile139Ser) c.475T>G c.1607T>G (p.Ile536Ser) c.2735T>G (p.Ile912Ser) c.2915T>G (p.Ile972Ser) c.2582T>G (p.Ile861Ser) |