Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602152_117612006delCA325806CFTRc.2620-674_3367+198del
c.2710-674_3457+198del
c.2377-674_3124+198del
n.2530-674_3277+198del
7g.117603733A>CCA368987354CFTRc.2859A>C (p.Leu953Phe)
c.2949A>C (p.Leu983Phe)
c.2616A>C (p.Leu872Phe)
n.2769A>C (p.Leu923Phe)
7g.117603733A>GCA4451301CFTRc.2859A>G (p.Leu953=)
c.2949A>G (p.Leu983=)
c.2616A>G (p.Leu872=)
n.2769A>G (p.Leu923=)
dbSNP ExAC gnomAD
7g.117603733A>TCA368987360CFTRc.2859A>T (p.Leu953Phe)
c.2949A>T (p.Leu983Phe)
c.2616A>T (p.Leu872Phe)
n.2769A>T (p.Leu923Phe)
7g.117603733_117603764delCA326947CFTRc.2859_2890del (p.Leu953PhefsTer11)
c.2949_2980del (p.Leu983PhefsTer11)
c.2616_2647del (p.Leu872PhefsTer11)
n.2769_2800del (p.Leu923PhefsTer11)
ClinVar dbSNP gnomAD
7g.117603734C>ACA368987367CFTRc.2860C>A (p.His954Asn)
c.2950C>A (p.His984Asn)
c.2617C>A (p.His873Asn)
n.2770C>A (p.His924Asn)
7g.117603734C>GCA368987363CFTRc.2860C>G (p.His954Asp)
c.2950C>G (p.His984Asp)
c.2617C>G (p.His873Asp)
n.2770C>G (p.His924Asp)
7g.117603734C>TCA4451302CFTRc.2860C>T (p.His954Tyr)
c.2950C>T (p.His984Tyr)
c.2617C>T (p.His873Tyr)
n.2770C>T (p.His924Tyr)
dbSNP ExAC gnomAD
7g.117603735A>CCA326948CFTRc.2861A>C (p.His954Pro)
c.2951A>C (p.His984Pro)
c.2618A>C (p.His873Pro)
n.2771A>C (p.His924Pro)
ClinVar dbSNP
7g.117603735A>GCA368987372CFTRc.2861A>G (p.His954Arg)
c.2951A>G (p.His984Arg)
c.2618A>G (p.His873Arg)
n.2771A>G (p.His924Arg)
7g.117603735A>TCA368987375CFTRc.2861A>T (p.His954Leu)
c.2951A>T (p.His984Leu)
c.2618A>T (p.His873Leu)
n.2771A>T (p.His924Leu)
7g.117603736T>ACA368987379CFTRc.2862T>A (p.His954Gln)
c.2952T>A (p.His984Gln)
c.2619T>A (p.His873Gln)
n.2772T>A (p.His924Gln)
7g.117603736T>CCA457228020CFTRc.2862T>C (p.His954=)
c.2952T>C (p.His984=)
c.2619T>C (p.His873=)
n.2772T>C (p.His924=)
7g.117603736T>GCA368987382CFTRc.2862T>G (p.His954Gln)
c.2952T>G (p.His984Gln)
c.2619T>G (p.His873Gln)
n.2772T>G (p.His924Gln)
7g.117603737T>ACA368987386CFTRc.2863T>A (p.Ser955Thr)
c.2953T>A (p.Ser985Thr)
c.2620T>A (p.Ser874Thr)
n.2773T>A (p.Ser925Thr)
7g.117603737T>CCA368987389CFTRc.2863T>C (p.Ser955Pro)
c.2953T>C (p.Ser985Pro)
c.2620T>C (p.Ser874Pro)
n.2773T>C (p.Ser925Pro)
7g.117603737T>GCA368987390CFTRc.2863T>G (p.Ser955Ala)
c.2953T>G (p.Ser985Ala)
c.2620T>G (p.Ser874Ala)
n.2773T>G (p.Ser925Ala)
7g.117603738C>ACA368987394CFTRc.2864C>A (p.Ser955Tyr)
c.2954C>A (p.Ser985Tyr)
c.2621C>A (p.Ser874Tyr)
n.2774C>A (p.Ser925Tyr)
7g.117603738C>GCA368987393CFTRc.2864C>G (p.Ser955Cys)
c.2954C>G (p.Ser985Cys)
c.2621C>G (p.Ser874Cys)
n.2774C>G (p.Ser925Cys)
7g.117603738C>TCA368987391CFTRc.2864C>T (p.Ser955Phe)
c.2954C>T (p.Ser985Phe)
c.2621C>T (p.Ser874Phe)
n.2774C>T (p.Ser925Phe)
7g.117603739T>ACA457228021CFTRc.2865T>A (p.Ser955=)
c.2955T>A (p.Ser985=)
c.2622T>A (p.Ser874=)
n.2775T>A (p.Ser925=)
7g.117603739T>CCA457228022CFTRc.2865T>C (p.Ser955=)
c.2955T>C (p.Ser985=)
c.2622T>C (p.Ser874=)
n.2775T>C (p.Ser925=)
7g.117603739T>GCA457228023CFTRc.2865T>G (p.Ser955=)
c.2955T>G (p.Ser985=)
c.2622T>G (p.Ser874=)
n.2775T>G (p.Ser925=)
7g.117603740G>ACA368987397CFTRc.2866G>A (p.Val956Ile)
c.2956G>A (p.Val986Ile)
c.2623G>A (p.Val875Ile)
n.2776G>A (p.Val926Ile)
7g.117603740G>CCA4451303CFTRc.2866G>C (p.Val956Leu)
c.2956G>C (p.Val986Leu)
c.2623G>C (p.Val875Leu)
n.2776G>C (p.Val926Leu)
dbSNP ExAC gnomAD
7g.117603740G>TCA368987399CFTRc.2866G>T (p.Val956Phe)
c.2956G>T (p.Val986Phe)
c.2623G>T (p.Val875Phe)
n.2776G>T (p.Val926Phe)
7g.117603741T>ACA368987401CFTRc.2867T>A (p.Val956Asp)
c.2957T>A (p.Val986Asp)
c.2624T>A (p.Val875Asp)
n.2777T>A (p.Val926Asp)
7g.117603741T>CCA368987403CFTRc.2867T>C (p.Val956Ala)
c.2957T>C (p.Val986Ala)
c.2624T>C (p.Val875Ala)
n.2777T>C (p.Val926Ala)
7g.117603741T>GCA368987406CFTRc.2867T>G (p.Val956Gly)
c.2957T>G (p.Val986Gly)
c.2624T>G (p.Val875Gly)
n.2777T>G (p.Val926Gly)
7g.117603742T>ACA457228024CFTRc.2868T>A (p.Val956=)
c.2958T>A (p.Val986=)
c.2625T>A (p.Val875=)
n.2778T>A (p.Val926=)
7g.117603742T>CCA457228025CFTRc.2868T>C (p.Val956=)
c.2958T>C (p.Val986=)
c.2625T>C (p.Val875=)
n.2778T>C (p.Val926=)
7g.117603742T>GCA457228026CFTRc.2868T>G (p.Val956=)
c.2958T>G (p.Val986=)
c.2625T>G (p.Val875=)
n.2778T>G (p.Val926=)
7g.117603743C>ACA368987410CFTRc.2869C>A (p.Leu957Ile)
c.2959C>A (p.Leu987Ile)
c.2626C>A (p.Leu876Ile)
n.2779C>A (p.Leu927Ile)
7g.117603743C>GCA368987412CFTRc.2869C>G (p.Leu957Val)
c.2959C>G (p.Leu987Val)
c.2626C>G (p.Leu876Val)
n.2779C>G (p.Leu927Val)
7g.117603743C>TCA368987416CFTRc.2869C>T (p.Leu957Phe)
c.2959C>T (p.Leu987Phe)
c.2626C>T (p.Leu876Phe)
n.2779C>T (p.Leu927Phe)
COSMIC
7g.117603744T>ACA368987421CFTRc.2870T>A (p.Leu957His)
c.2960T>A (p.Leu987His)
c.2627T>A (p.Leu876His)
n.2780T>A (p.Leu927His)
7g.117603744T>CCA368987427CFTRc.2870T>C (p.Leu957Pro)
c.2960T>C (p.Leu987Pro)
c.2627T>C (p.Leu876Pro)
n.2780T>C (p.Leu927Pro)
7g.117603744T>GCA368987430CFTRc.2870T>G (p.Leu957Arg)
c.2960T>G (p.Leu987Arg)
c.2627T>G (p.Leu876Arg)
n.2780T>G (p.Leu927Arg)
7g.117603745T>ACA457228027CFTRc.2871T>A (p.Leu957=)
c.2961T>A (p.Leu987=)
c.2628T>A (p.Leu876=)
n.2781T>A (p.Leu927=)
7g.117603745T>CCA457228028CFTRc.2871T>C (p.Leu957=)
c.2961T>C (p.Leu987=)
c.2628T>C (p.Leu876=)
n.2781T>C (p.Leu927=)
7g.117603745T>GCA457228029CFTRc.2871T>G (p.Leu957=)
c.2961T>G (p.Leu987=)
c.2628T>G (p.Leu876=)
n.2781T>G (p.Leu927=)
7g.117603746C>ACA368987438CFTRc.2872C>A (p.Gln958Lys)
c.2962C>A (p.Gln988Lys)
c.2629C>A (p.Gln877Lys)
n.2782C>A (p.Gln928Lys)
7g.117603746C>GCA368987442CFTRc.2872C>G (p.Gln958Glu)
c.2962C>G (p.Gln988Glu)
c.2629C>G (p.Gln877Glu)
n.2782C>G (p.Gln928Glu)
7g.117603746C>TCA368987434CFTRc.2872C>T (p.Gln958Ter)
c.2962C>T (p.Gln988Ter)
c.2629C>T (p.Gln877Ter)
n.2782C>T (p.Gln928Ter)
7g.117603747A>CCA368987446CFTRc.2873A>C (p.Gln958Pro)
c.2963A>C (p.Gln988Pro)
c.2630A>C (p.Gln877Pro)
n.2783A>C (p.Gln928Pro)
7g.117603747A>GCA368987448CFTRc.2873A>G (p.Gln958Arg)
c.2963A>G (p.Gln988Arg)
c.2630A>G (p.Gln877Arg)
n.2783A>G (p.Gln928Arg)
7g.117603747A>TCA368987449CFTRc.2873A>T (p.Gln958Leu)
c.2963A>T (p.Gln988Leu)
c.2630A>T (p.Gln877Leu)
n.2783A>T (p.Gln928Leu)
7g.117603748A>CCA368987450CFTRc.2874A>C (p.Gln958His)
c.2964A>C (p.Gln988His)
c.2631A>C (p.Gln877His)
n.2784A>C (p.Gln928His)
7g.117603748A>GCA457228030CFTRc.2874A>G (p.Gln958=)
c.2964A>G (p.Gln988=)
c.2631A>G (p.Gln877=)
n.2784A>G (p.Gln928=)
7g.117603748A>TCA368987451CFTRc.2874A>T (p.Gln958His)
c.2964A>T (p.Gln988His)
c.2631A>T (p.Gln877His)
n.2784A>T (p.Gln928His)

Number of alleles fetched