Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602152_117612006delCA325806CFTRc.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
7g.117602152_117612040delCA2499218685CFTRc.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
7g.117604867_117612068delCA913190213CFTRc.2908+1085_3367+260del
c.*2622+1085_*3081+260del
c.2725+1085_3184+260del
c.*1208+1085_*1667+260del
c.*2732+1085_*3191+260del
c.2482+1085_2941+260del
c.499+1085_958+260del
c.558+1085_1017+260del
c.1690+1085_2149+260del
c.2818+1085_3277+260del
c.2998+1085_3457+260del
c.2665+1085_3124+260del
 ClinVar
7g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTGCA2580076402CFTRc.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.*2623-636_*3081+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.*1209-636_*1667+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.*2733-636_*3191+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2483-636_2941+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.500-636_958+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.559-636_1017+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.1691-636_2149+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2819-636_3277+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2999-636_3457+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2666-636_3124+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
 ClinVar
7g.117606663_117606669delCA326960CFTRc.2909-11_2909-5del (n.2909-11_2909-5del)
c.*2623-11_*2623-5del (n.*2623-11_*2623-5del)
c.2726-11_2726-5del (n.2726-11_2726-5del)
c.*1209-11_*1209-5del (n.*1209-11_*1209-5del)
c.*2733-11_*2733-5del (n.*2733-11_*2733-5del)
c.2483-11_2483-5del (n.2483-11_2483-5del)
c.500-11_500-5del (n.500-11_500-5del)
c.559-11_559-5del
c.1691-11_1691-5del (n.1691-11_1691-5del)
c.2819-11_2819-5del (n.2819-11_2819-5del)
c.2999-11_2999-5del (n.2999-11_2999-5del)
c.2666-11_2666-5del (n.2666-11_2666-5del)
 dbSNP gnomAD v4
7g.117606684_117606685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTTCA2580076405CFTRc.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.*2633_*2634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.2736_2737insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.*1219_*1220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.*2743_*2744insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.2493_2494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.510_511insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.569_570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.1701_1702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.2829_2830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.3009_3010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
c.2676_2677insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
 ClinVar
7g.117606668T>CCA4451326CFTRc.2909-6T>C (n.2909-6T>C)
c.*2623-6T>C (n.*2623-6T>C)
c.2726-6T>C (n.2726-6T>C)
c.*1209-6T>C (n.*1209-6T>C)
c.*2733-6T>C (n.*2733-6T>C)
c.2483-6T>C (n.2483-6T>C)
c.500-6T>C (n.500-6T>C)
c.559-6T>C
c.1691-6T>C (n.1691-6T>C)
c.2819-6T>C (n.2819-6T>C)
c.2999-6T>C (n.2999-6T>C)
c.2666-6T>C (n.2666-6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606668T=CA1737379387CFTRc.2909-6T= (n.2909-6T=)
c.*2623-6T= (n.*2623-6T=)
c.2726-6T= (n.2726-6T=)
c.*1209-6T= (n.*1209-6T=)
c.*2733-6T= (n.*2733-6T=)
c.2483-6T= (n.2483-6T=)
c.500-6T= (n.500-6T=)
c.559-6T=
c.1691-6T= (n.1691-6T=)
c.2819-6T= (n.2819-6T=)
c.2999-6T= (n.2999-6T=)
c.2666-6T= (n.2666-6T=)
7g.117606669delCA2684588061CFTRc.2909-5del (n.2909-5del)
c.*2623-5del (n.*2623-5del)
c.2726-5del (n.2726-5del)
c.*1209-5del (n.*1209-5del)
c.*2733-5del (n.*2733-5del)
c.2483-5del (n.2483-5del)
c.500-5del (n.500-5del)
c.559-5del
c.1691-5del (n.1691-5del)
c.2819-5del (n.2819-5del)
c.2999-5del (n.2999-5del)
c.2666-5del (n.2666-5del)
 gnomAD v4
7g.117606669T>CCA2684588062CFTRc.2909-5T>C (n.2909-5T>C)
c.*2623-5T>C (n.*2623-5T>C)
c.2726-5T>C (n.2726-5T>C)
c.*1209-5T>C (n.*1209-5T>C)
c.*2733-5T>C (n.*2733-5T>C)
c.2483-5T>C (n.2483-5T>C)
c.500-5T>C (n.500-5T>C)
c.559-5T>C
c.1691-5T>C (n.1691-5T>C)
c.2819-5T>C (n.2819-5T>C)
c.2999-5T>C (n.2999-5T>C)
c.2666-5T>C (n.2666-5T>C)
 gnomAD v4
7g.117606670A=CA1737379395CFTRc.2909-4A= (n.2909-4A=)
c.*2623-4A= (n.*2623-4A=)
c.2726-4A= (n.2726-4A=)
c.*1209-4A= (n.*1209-4A=)
c.*2733-4A= (n.*2733-4A=)
c.2483-4A= (n.2483-4A=)
c.500-4A= (n.500-4A=)
c.559-4A=
c.1691-4A= (n.1691-4A=)
c.2819-4A= (n.2819-4A=)
c.2999-4A= (n.2999-4A=)
c.2666-4A= (n.2666-4A=)
7g.117606670A>GCA326963CFTRc.2909-4A>G (n.2909-4A>G)
c.*2623-4A>G (n.*2623-4A>G)
c.2726-4A>G (n.2726-4A>G)
c.*1209-4A>G (n.*1209-4A>G)
c.*2733-4A>G (n.*2733-4A>G)
c.2483-4A>G (n.2483-4A>G)
c.500-4A>G (n.500-4A>G)
c.559-4A>G
c.1691-4A>G (n.1691-4A>G)
c.2819-4A>G (n.2819-4A>G)
c.2999-4A>G (n.2999-4A>G)
c.2666-4A>G (n.2666-4A>G)
 ClinVar dbSNP gnomAD v4
7g.117606674_117606689dupCA577222492CFTRc.2909_2924dup
c.*2623_*2638dup
c.2726_2741dup
c.*1209_*1224dup
c.*2733_*2748dup
c.2483_2498dup
c.500_515dup
c.559_574dup
c.1691_1706dup
c.2819_2834dup
c.2999_3014dup
c.2666_2681dup
 ClinVar gnomAD v2 gnomAD v3 gnomAD v4
7g.117606671T>ACA577222493CFTRc.2909-3T>A (n.2909-3T>A)
c.*2623-3T>A (n.*2623-3T>A)
c.2726-3T>A (n.2726-3T>A)
c.*1209-3T>A (n.*1209-3T>A)
c.*2733-3T>A (n.*2733-3T>A)
c.2483-3T>A (n.2483-3T>A)
c.500-3T>A (n.500-3T>A)
c.559-3T>A
c.1691-3T>A (n.1691-3T>A)
c.2819-3T>A (n.2819-3T>A)
c.2999-3T>A (n.2999-3T>A)
c.2666-3T>A (n.2666-3T>A)
 dbSNP gnomAD v2 gnomAD v4
7g.117606671T>CCA457228783CFTRc.2909-3T>C (n.2909-3T>C)
c.*2623-3T>C (n.*2623-3T>C)
c.2726-3T>C (n.2726-3T>C)
c.*1209-3T>C (n.*1209-3T>C)
c.*2733-3T>C (n.*2733-3T>C)
c.2483-3T>C (n.2483-3T>C)
c.500-3T>C (n.500-3T>C)
c.559-3T>C
c.1691-3T>C (n.1691-3T>C)
c.2819-3T>C (n.2819-3T>C)
c.2999-3T>C (n.2999-3T>C)
c.2666-3T>C (n.2666-3T>C)
 gnomAD v4
7g.117606671T=CA1737379406CFTRc.2909-3T= (n.2909-3T=)
c.*2623-3T= (n.*2623-3T=)
c.2726-3T= (n.2726-3T=)
c.*1209-3T= (n.*1209-3T=)
c.*2733-3T= (n.*2733-3T=)
c.2483-3T= (n.2483-3T=)
c.500-3T= (n.500-3T=)
c.559-3T=
c.1691-3T= (n.1691-3T=)
c.2819-3T= (n.2819-3T=)
c.2999-3T= (n.2999-3T=)
c.2666-3T= (n.2666-3T=)
7g.117606672A=CA1737379409CFTRc.2909-2A= (n.2909-2A=)
c.*2623-2A= (n.*2623-2A=)
c.2726-2A= (n.2726-2A=)
c.*1209-2A= (n.*1209-2A=)
c.*2733-2A= (n.*2733-2A=)
c.2483-2A= (n.2483-2A=)
c.500-2A= (n.500-2A=)
c.559-2A=
c.1691-2A= (n.1691-2A=)
c.2819-2A= (n.2819-2A=)
c.2999-2A= (n.2999-2A=)
c.2666-2A= (n.2666-2A=)
7g.117606672A>CCA368988829CFTRc.2909-2A>C (n.2909-2A>C)
c.*2623-2A>C (n.*2623-2A>C)
c.2726-2A>C (n.2726-2A>C)
c.*1209-2A>C (n.*1209-2A>C)
c.*2733-2A>C (n.*2733-2A>C)
c.2483-2A>C (n.2483-2A>C)
c.500-2A>C (n.500-2A>C)
c.559-2A>C
c.1691-2A>C (n.1691-2A>C)
c.2819-2A>C (n.2819-2A>C)
c.2999-2A>C (n.2999-2A>C)
c.2666-2A>C (n.2666-2A>C)
 dbSNP gnomAD v2 gnomAD v4
7g.117606672A>GCA368988833CFTRc.2909-2A>G (n.2909-2A>G)
c.*2623-2A>G (n.*2623-2A>G)
c.2726-2A>G (n.2726-2A>G)
c.*1209-2A>G (n.*1209-2A>G)
c.*2733-2A>G (n.*2733-2A>G)
c.2483-2A>G (n.2483-2A>G)
c.500-2A>G (n.500-2A>G)
c.559-2A>G
c.1691-2A>G (n.1691-2A>G)
c.2819-2A>G (n.2819-2A>G)
c.2999-2A>G (n.2999-2A>G)
c.2666-2A>G (n.2666-2A>G)
 gnomAD v4
7g.117606672A>TCA368988835CFTRc.2909-2A>T (n.2909-2A>T)
c.*2623-2A>T (n.*2623-2A>T)
c.2726-2A>T (n.2726-2A>T)
c.*1209-2A>T (n.*1209-2A>T)
c.*2733-2A>T (n.*2733-2A>T)
c.2483-2A>T (n.2483-2A>T)
c.500-2A>T (n.500-2A>T)
c.559-2A>T
c.1691-2A>T (n.1691-2A>T)
c.2819-2A>T (n.2819-2A>T)
c.2999-2A>T (n.2999-2A>T)
c.2666-2A>T (n.2666-2A>T)
 ClinVar gnomAD v4
7g.117606672_117606673delinsAGCA1737379411CFTRc.2909-2_2909-1delinsAG (n.2909-2_2909-1delinsAG)
c.*2623-2_*2623-1delinsAG (n.*2623-2_*2623-1delinsAG)
c.2726-2_2726-1delinsAG (n.2726-2_2726-1delinsAG)
c.*1209-2_*1209-1delinsAG (n.*1209-2_*1209-1delinsAG)
c.*2733-2_*2733-1delinsAG (n.*2733-2_*2733-1delinsAG)
c.2483-2_2483-1delinsAG (n.2483-2_2483-1delinsAG)
c.500-2_500-1delinsAG (n.500-2_500-1delinsAG)
c.559-2_559-1delinsAG
c.1691-2_1691-1delinsAG (n.1691-2_1691-1delinsAG)
c.2819-2_2819-1delinsAG (n.2819-2_2819-1delinsAG)
c.2999-2_2999-1delinsAG (n.2999-2_2999-1delinsAG)
c.2666-2_2666-1delinsAG (n.2666-2_2666-1delinsAG)
7g.117606676_117611810delCA913190200CFTRc.2911_3367+2del
c.*2625_*3081+2del
c.2728_3184+2del
c.*1211_*1667+2del
c.*2735_*3191+2del
c.2485_2941+2del
c.502_958+2del
c.561_1017+2del
c.1693_2149+2del
c.2821_3277+2del
c.3001_3457+2del
c.2668_3124+2del
 ClinVar
7g.117606673G>ACA326962CFTRc.2909-1G>A (n.2909-1G>A)
c.*2623-1G>A (n.*2623-1G>A)
c.2726-1G>A (n.2726-1G>A)
c.*1209-1G>A (n.*1209-1G>A)
c.*2733-1G>A (n.*2733-1G>A)
c.2483-1G>A (n.2483-1G>A)
c.500-1G>A (n.500-1G>A)
c.559-1G>A
c.1691-1G>A (n.1691-1G>A)
c.2819-1G>A (n.2819-1G>A)
c.2999-1G>A (n.2999-1G>A)
c.2666-1G>A (n.2666-1G>A)
 ClinVar dbSNP gnomAD v4
7g.117606673G>CCA368988855CFTRc.2909-1G>C (n.2909-1G>C)
c.*2623-1G>C (n.*2623-1G>C)
c.2726-1G>C (n.2726-1G>C)
c.*1209-1G>C (n.*1209-1G>C)
c.*2733-1G>C (n.*2733-1G>C)
c.2483-1G>C (n.2483-1G>C)
c.500-1G>C (n.500-1G>C)
c.559-1G>C
c.1691-1G>C (n.1691-1G>C)
c.2819-1G>C (n.2819-1G>C)
c.2999-1G>C (n.2999-1G>C)
c.2666-1G>C (n.2666-1G>C)
 ClinVar dbSNP gnomAD v2
7g.117606673G=CA1737379420CFTRc.2909-1G= (n.2909-1G=)
c.*2623-1G= (n.*2623-1G=)
c.2726-1G= (n.2726-1G=)
c.*1209-1G= (n.*1209-1G=)
c.*2733-1G= (n.*2733-1G=)
c.2483-1G= (n.2483-1G=)
c.500-1G= (n.500-1G=)
c.559-1G=
c.1691-1G= (n.1691-1G=)
c.2819-1G= (n.2819-1G=)
c.2999-1G= (n.2999-1G=)
c.2666-1G= (n.2666-1G=)
7g.117606673G>TCA368988851CFTRc.2909-1G>T (n.2909-1G>T)
c.*2623-1G>T (n.*2623-1G>T)
c.2726-1G>T (n.2726-1G>T)
c.*1209-1G>T (n.*1209-1G>T)
c.*2733-1G>T (n.*2733-1G>T)
c.2483-1G>T (n.2483-1G>T)
c.500-1G>T (n.500-1G>T)
c.559-1G>T
c.1691-1G>T (n.1691-1G>T)
c.2819-1G>T (n.2819-1G>T)
c.2999-1G>T (n.2999-1G>T)
c.2666-1G>T (n.2666-1G>T)
7g.117606674delCA326966CFTRc.2909del
c.*2623del
c.2726del
c.*1209del
c.*2733del
c.2483del
c.500del
c.559del
c.1691del
c.2819del
c.2999del
c.2666del
 ClinVar dbSNP
7g.117606674G>ACA326964CFTRc.2909G>A (p.Gly970Asp)
c.*2623G>A (n.*2623G>A)
c.2726G>A (p.Gly909Asp)
c.*1209G>A (n.*1209G>A)
c.*2733G>A (n.*2733G>A)
c.2483G>A (p.Gly828Asp)
c.500G>A (p.Gly167Asp)
c.559G>A
c.1691G>A (p.Gly564Asp)
c.2819G>A (p.Gly940Asp)
c.2999G>A (p.Gly1000Asp)
c.2666G>A (p.Gly889Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117606674G>CCA368988865CFTRc.2909G>C (p.Gly970Ala)
c.*2623G>C (n.*2623G>C)
c.2726G>C (p.Gly909Ala)
c.*1209G>C (n.*1209G>C)
c.*2733G>C (n.*2733G>C)
c.2483G>C (p.Gly828Ala)
c.500G>C (p.Gly167Ala)
c.559G>C
c.1691G>C (p.Gly564Ala)
c.2819G>C (p.Gly940Ala)
c.2999G>C (p.Gly1000Ala)
c.2666G>C (p.Gly889Ala)
7g.117606674G=CA1737379434CFTRc.2909G= (p.Gly970=)
c.*2623G= (n.*2623G=)
c.2726G= (p.Gly909=)
c.*1209G= (n.*1209G=)
c.*2733G= (n.*2733G=)
c.2483G= (p.Gly828=)
c.500G= (p.Gly167=)
c.559G=
c.1691G= (p.Gly564=)
c.2819G= (p.Gly940=)
c.2999G= (p.Gly1000=)
c.2666G= (p.Gly889=)
7g.117606674G>TCA368988869CFTRc.2909G>T (p.Gly970Val)
c.*2623G>T (n.*2623G>T)
c.2726G>T (p.Gly909Val)
c.*1209G>T (n.*1209G>T)
c.*2733G>T (n.*2733G>T)
c.2483G>T (p.Gly828Val)
c.500G>T (p.Gly167Val)
c.559G>T
c.1691G>T (p.Gly564Val)
c.2819G>T (p.Gly940Val)
c.2999G>T (p.Gly1000Val)
c.2666G>T (p.Gly889Val)
 dbSNP
7g.117606675T>ACA457228784CFTRc.2910T>A (p.Gly970=)
c.*2624T>A (n.*2624T>A)
c.2727T>A (p.Gly909=)
c.*1210T>A (n.*1210T>A)
c.*2734T>A (n.*2734T>A)
c.2484T>A (p.Gly828=)
c.501T>A (p.Gly167=)
c.560T>A
c.1692T>A (p.Gly564=)
c.2820T>A (p.Gly940=)
c.3000T>A (p.Gly1000=)
c.2667T>A (p.Gly889=)
7g.117606675T>CCA457228785CFTRc.2910T>C (p.Gly970=)
c.*2624T>C (n.*2624T>C)
c.2727T>C (p.Gly909=)
c.*1210T>C (n.*1210T>C)
c.*2734T>C (n.*2734T>C)
c.2484T>C (p.Gly828=)
c.501T>C (p.Gly167=)
c.560T>C
c.1692T>C (p.Gly564=)
c.2820T>C (p.Gly940=)
c.3000T>C (p.Gly1000=)
c.2667T>C (p.Gly889=)
 gnomAD v4
7g.117606675T>GCA457228786CFTRc.2910T>G (p.Gly970=)
c.*2624T>G (n.*2624T>G)
c.2727T>G (p.Gly909=)
c.*1210T>G (n.*1210T>G)
c.*2734T>G (n.*2734T>G)
c.2484T>G (p.Gly828=)
c.501T>G (p.Gly167=)
c.560T>G
c.1692T>G (p.Gly564=)
c.2820T>G (p.Gly940=)
c.3000T>G (p.Gly1000=)
c.2667T>G (p.Gly889=)
7g.117606678_117606715delCA913111895CFTRc.2913_2950del (p.Ile972Ter)
c.*2627_*2664del (n.*2627_*2664del)
c.2730_2767del (p.Ile911Ter)
c.*1213_*1250del (n.*1213_*1250del)
c.*2737_*2774del (n.*2737_*2774del)
c.2487_2524del (p.Ile830Ter)
c.504_541del (p.Ile169Ter)
c.563_600del
c.1695_1732del (p.Ile566Ter)
c.2823_2860del (p.Ile942Ter)
c.3003_3040del (p.Ile1002Ter)
c.2670_2707del (p.Ile891Ter)
7g.117606676G>ACA368988882CFTRc.2911G>A (p.Gly971Arg)
c.*2625G>A (n.*2625G>A)
c.2728G>A (p.Gly910Arg)
c.*1211G>A (n.*1211G>A)
c.*2735G>A (n.*2735G>A)
c.2485G>A (p.Gly829Arg)
c.502G>A (p.Gly168Arg)
c.561G>A
c.1693G>A (p.Gly565Arg)
c.2821G>A (p.Gly941Arg)
c.3001G>A (p.Gly1001Arg)
c.2668G>A (p.Gly890Arg)
 gnomAD v4
7g.117606676G>CCA368988875CFTRc.2911G>C (p.Gly971Arg)
c.*2625G>C (n.*2625G>C)
c.2728G>C (p.Gly910Arg)
c.*1211G>C (n.*1211G>C)
c.*2735G>C (n.*2735G>C)
c.2485G>C (p.Gly829Arg)
c.502G>C (p.Gly168Arg)
c.561G>C
c.1693G>C (p.Gly565Arg)
c.2821G>C (p.Gly941Arg)
c.3001G>C (p.Gly1001Arg)
c.2668G>C (p.Gly890Arg)
7g.117606676G>TCA368988878CFTRc.2911G>T (p.Gly971Trp)
c.*2625G>T (n.*2625G>T)
c.2728G>T (p.Gly910Trp)
c.*1211G>T (n.*1211G>T)
c.*2735G>T (n.*2735G>T)
c.2485G>T (p.Gly829Trp)
c.502G>T (p.Gly168Trp)
c.561G>T
c.1693G>T (p.Gly565Trp)
c.2821G>T (p.Gly941Trp)
c.3001G>T (p.Gly1001Trp)
c.2668G>T (p.Gly890Trp)
7g.117606678delCA2684588063CFTRc.2913del (p.Ile972PhefsTer9)
c.*2627del (n.*2627del)
c.2730del (p.Ile911PhefsTer9)
c.*1213del (n.*1213del)
c.*2737del (n.*2737del)
c.2487del (p.Ile830PhefsTer9)
c.504del (p.Ile169PhefsTer9)
c.563del
c.1695del (p.Ile566PhefsTer9)
c.2823del (p.Ile942PhefsTer9)
c.3003del (p.Ile1002PhefsTer9)
c.2670del (p.Ile891PhefsTer9)
 gnomAD v4
7g.117606676_117606713delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTTCA1737379438CFTRc.2911_2948delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly971=)
c.*2625_*2662delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (n.*2625_*2662delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT)
c.2728_2765delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly910=)
c.*1211_*1248delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (n.*1211_*1248delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT)
c.*2735_*2772delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (n.*2735_*2772delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT)
c.2485_2522delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly829=)
c.502_539delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly168=)
c.561_598delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT
c.1693_1730delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly565=)
c.2821_2858delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly941=)
c.3001_3038delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly1001=)
c.2668_2705delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT (p.Gly890=)
7g.117606677G>ACA368988887CFTRc.2912G>A (p.Gly971Glu)
c.*2626G>A (n.*2626G>A)
c.2729G>A (p.Gly910Glu)
c.*1212G>A (n.*1212G>A)
c.*2736G>A (n.*2736G>A)
c.2486G>A (p.Gly829Glu)
c.503G>A (p.Gly168Glu)
c.562G>A
c.1694G>A (p.Gly565Glu)
c.2822G>A (p.Gly941Glu)
c.3002G>A (p.Gly1001Glu)
c.2669G>A (p.Gly890Glu)
 gnomAD v4 COSMIC
7g.117606677G>CCA368988891CFTRc.2912G>C (p.Gly971Ala)
c.*2626G>C (n.*2626G>C)
c.2729G>C (p.Gly910Ala)
c.*1212G>C (n.*1212G>C)
c.*2736G>C (n.*2736G>C)
c.2486G>C (p.Gly829Ala)
c.503G>C (p.Gly168Ala)
c.562G>C
c.1694G>C (p.Gly565Ala)
c.2822G>C (p.Gly941Ala)
c.3002G>C (p.Gly1001Ala)
c.2669G>C (p.Gly890Ala)
7g.117606677G>TCA368988895CFTRc.2912G>T (p.Gly971Val)
c.*2626G>T (n.*2626G>T)
c.2729G>T (p.Gly910Val)
c.*1212G>T (n.*1212G>T)
c.*2736G>T (n.*2736G>T)
c.2486G>T (p.Gly829Val)
c.503G>T (p.Gly168Val)
c.562G>T
c.1694G>T (p.Gly565Val)
c.2822G>T (p.Gly941Val)
c.3002G>T (p.Gly1001Val)
c.2669G>T (p.Gly890Val)
7g.117606681_117606717delCA658822506CFTRc.2916_2952del (p.Ile972MetfsTer16)
c.*2630_*2666del (n.*2630_*2666del)
c.2733_2769del (p.Ile911MetfsTer16)
c.*1216_*1252del (n.*1216_*1252del)
c.*2740_*2776del (n.*2740_*2776del)
c.2490_2526del (p.Ile830MetfsTer16)
c.507_543del (p.Ile169MetfsTer16)
c.566_602del
c.1698_1734del (p.Ile566MetfsTer16)
c.2826_2862del (p.Ile942MetfsTer16)
c.3006_3042del (p.Ile1002MetfsTer16)
c.2673_2709del (p.Ile891MetfsTer16)
 ClinVar dbSNP
7g.117606678G>ACA457228787CFTRc.2913G>A (p.Gly971=)
c.*2627G>A (n.*2627G>A)
c.2730G>A (p.Gly910=)
c.*1213G>A (n.*1213G>A)
c.*2737G>A (n.*2737G>A)
c.2487G>A (p.Gly829=)
c.504G>A (p.Gly168=)
c.563G>A
c.1695G>A (p.Gly565=)
c.2823G>A (p.Gly941=)
c.3003G>A (p.Gly1001=)
c.2670G>A (p.Gly890=)
 COSMIC
7g.117606678G>CCA457228788CFTRc.2913G>C (p.Gly971=)
c.*2627G>C (n.*2627G>C)
c.2730G>C (p.Gly910=)
c.*1213G>C (n.*1213G>C)
c.*2737G>C (n.*2737G>C)
c.2487G>C (p.Gly829=)
c.504G>C (p.Gly168=)
c.563G>C
c.1695G>C (p.Gly565=)
c.2823G>C (p.Gly941=)
c.3003G>C (p.Gly1001=)
c.2670G>C (p.Gly890=)
 ClinVar
7g.117606678G>TCA457228789CFTRc.2913G>T (p.Gly971=)
c.*2627G>T (n.*2627G>T)
c.2730G>T (p.Gly910=)
c.*1213G>T (n.*1213G>T)
c.*2737G>T (n.*2737G>T)
c.2487G>T (p.Gly829=)
c.504G>T (p.Gly168=)
c.563G>T
c.1695G>T (p.Gly565=)
c.2823G>T (p.Gly941=)
c.3003G>T (p.Gly1001=)
c.2670G>T (p.Gly890=)
 gnomAD v4
7g.117606679A>CCA368988903CFTRc.2914A>C (p.Ile972Leu)
c.*2628A>C (n.*2628A>C)
c.2731A>C (p.Ile911Leu)
c.*1214A>C (n.*1214A>C)
c.*2738A>C (n.*2738A>C)
c.2488A>C (p.Ile830Leu)
c.505A>C (p.Ile169Leu)
c.564A>C
c.1696A>C (p.Ile566Leu)
c.2824A>C (p.Ile942Leu)
c.3004A>C (p.Ile1002Leu)
c.2671A>C (p.Ile891Leu)
 gnomAD v4
7g.117606679A>GCA368988906CFTRc.2914A>G (p.Ile972Val)
c.*2628A>G (n.*2628A>G)
c.2731A>G (p.Ile911Val)
c.*1214A>G (n.*1214A>G)
c.*2738A>G (n.*2738A>G)
c.2488A>G (p.Ile830Val)
c.505A>G (p.Ile169Val)
c.564A>G
c.1696A>G (p.Ile566Val)
c.2824A>G (p.Ile942Val)
c.3004A>G (p.Ile1002Val)
c.2671A>G (p.Ile891Val)
 ClinVar dbSNP gnomAD v4
7g.117606679A>TCA368988908CFTRc.2914A>T (p.Ile972Phe)
c.*2628A>T (n.*2628A>T)
c.2731A>T (p.Ile911Phe)
c.*1214A>T (n.*1214A>T)
c.*2738A>T (n.*2738A>T)
c.2488A>T (p.Ile830Phe)
c.505A>T (p.Ile169Phe)
c.564A>T
c.1696A>T (p.Ile566Phe)
c.2824A>T (p.Ile942Phe)
c.3004A>T (p.Ile1002Phe)
c.2671A>T (p.Ile891Phe)

Number of alleles fetched