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.117604867_117612068del | CA913190213 | CFTR | c.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 |
7 | g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | CA2580076402 | CFTR | c.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 |
7 | g.117606657C>A | CA2684588055 | CFTR | c.2909-17C>A (n.2909-17C>A) c.*2623-17C>A (n.*2623-17C>A) c.2726-17C>A (n.2726-17C>A) c.*1209-17C>A (n.*1209-17C>A) c.*2733-17C>A (n.*2733-17C>A) c.2483-17C>A (n.2483-17C>A) c.500-17C>A (n.500-17C>A) c.559-17C>A c.1691-17C>A (n.1691-17C>A) c.2819-17C>A (n.2819-17C>A) c.2999-17C>A (n.2999-17C>A) c.2666-17C>A (n.2666-17C>A) | gnomAD v4 |
7 | g.117606657C= | CA1737379342 | CFTR | c.2909-17C= (n.2909-17C=) c.*2623-17C= (n.*2623-17C=) c.2726-17C= (n.2726-17C=) c.*1209-17C= (n.*1209-17C=) c.*2733-17C= (n.*2733-17C=) c.2483-17C= (n.2483-17C=) c.500-17C= (n.500-17C=) c.559-17C= c.1691-17C= (n.1691-17C=) c.2819-17C= (n.2819-17C=) c.2999-17C= (n.2999-17C=) c.2666-17C= (n.2666-17C=) | |
7 | g.117606657C>T | CA577222490 | CFTR | c.2909-17C>T (n.2909-17C>T) c.*2623-17C>T (n.*2623-17C>T) c.2726-17C>T (n.2726-17C>T) c.*1209-17C>T (n.*1209-17C>T) c.*2733-17C>T (n.*2733-17C>T) c.2483-17C>T (n.2483-17C>T) c.500-17C>T (n.500-17C>T) c.559-17C>T c.1691-17C>T (n.1691-17C>T) c.2819-17C>T (n.2819-17C>T) c.2999-17C>T (n.2999-17C>T) c.2666-17C>T (n.2666-17C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117606658A= | CA1737379343 | CFTR | c.2909-16A= (n.2909-16A=) c.*2623-16A= (n.*2623-16A=) c.2726-16A= (n.2726-16A=) c.*1209-16A= (n.*1209-16A=) c.*2733-16A= (n.*2733-16A=) c.2483-16A= (n.2483-16A=) c.500-16A= (n.500-16A=) c.559-16A= c.1691-16A= (n.1691-16A=) c.2819-16A= (n.2819-16A=) c.2999-16A= (n.2999-16A=) c.2666-16A= (n.2666-16A=) | |
7 | g.117606658A>G | CA4451322 | CFTR | c.2909-16A>G (n.2909-16A>G) c.*2623-16A>G (n.*2623-16A>G) c.2726-16A>G (n.2726-16A>G) c.*1209-16A>G (n.*1209-16A>G) c.*2733-16A>G (n.*2733-16A>G) c.2483-16A>G (n.2483-16A>G) c.500-16A>G (n.500-16A>G) c.559-16A>G c.1691-16A>G (n.1691-16A>G) c.2819-16A>G (n.2819-16A>G) c.2999-16A>G (n.2999-16A>G) c.2666-16A>G (n.2666-16A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117606659T>A | CA2838310312 | CFTR | c.2909-15T>A (n.2909-15T>A) c.*2623-15T>A (n.*2623-15T>A) c.2726-15T>A (n.2726-15T>A) c.*1209-15T>A (n.*1209-15T>A) c.*2733-15T>A (n.*2733-15T>A) c.2483-15T>A (n.2483-15T>A) c.500-15T>A (n.500-15T>A) c.559-15T>A c.1691-15T>A (n.1691-15T>A) c.2819-15T>A (n.2819-15T>A) c.2999-15T>A (n.2999-15T>A) c.2666-15T>A (n.2666-15T>A) | |
7 | g.117606659T>C | CA4451323 | CFTR | c.2909-15T>C (n.2909-15T>C) c.*2623-15T>C (n.*2623-15T>C) c.2726-15T>C (n.2726-15T>C) c.*1209-15T>C (n.*1209-15T>C) c.*2733-15T>C (n.*2733-15T>C) c.2483-15T>C (n.2483-15T>C) c.500-15T>C (n.500-15T>C) c.559-15T>C c.1691-15T>C (n.1691-15T>C) c.2819-15T>C (n.2819-15T>C) c.2999-15T>C (n.2999-15T>C) c.2666-15T>C (n.2666-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606659T>G | CA326961 | CFTR | c.2909-15T>G (n.2909-15T>G) c.*2623-15T>G (n.*2623-15T>G) c.2726-15T>G (n.2726-15T>G) c.*1209-15T>G (n.*1209-15T>G) c.*2733-15T>G (n.*2733-15T>G) c.2483-15T>G (n.2483-15T>G) c.500-15T>G (n.500-15T>G) c.559-15T>G c.1691-15T>G (n.1691-15T>G) c.2819-15T>G (n.2819-15T>G) c.2999-15T>G (n.2999-15T>G) c.2666-15T>G (n.2666-15T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606659T= | CA1737379349 | CFTR | c.2909-15T= (n.2909-15T=) c.*2623-15T= (n.*2623-15T=) c.2726-15T= (n.2726-15T=) c.*1209-15T= (n.*1209-15T=) c.*2733-15T= (n.*2733-15T=) c.2483-15T= (n.2483-15T=) c.500-15T= (n.500-15T=) c.559-15T= c.1691-15T= (n.1691-15T=) c.2819-15T= (n.2819-15T=) c.2999-15T= (n.2999-15T=) c.2666-15T= (n.2666-15T=) | |
7 | g.117606660C>A | CA2684588056 | CFTR | c.2909-14C>A (n.2909-14C>A) c.*2623-14C>A (n.*2623-14C>A) c.2726-14C>A (n.2726-14C>A) c.*1209-14C>A (n.*1209-14C>A) c.*2733-14C>A (n.*2733-14C>A) c.2483-14C>A (n.2483-14C>A) c.500-14C>A (n.500-14C>A) c.559-14C>A c.1691-14C>A (n.1691-14C>A) c.2819-14C>A (n.2819-14C>A) c.2999-14C>A (n.2999-14C>A) c.2666-14C>A (n.2666-14C>A) | gnomAD v4 |
7 | g.117606660_117606667delinsCTTGTATA | CA1737379352 | CFTR | c.2909-14_2909-7delinsCTTGTATA (n.2909-14_2909-7delinsCTTGTATA) c.*2623-14_*2623-7delinsCTTGTATA (n.*2623-14_*2623-7delinsCTTGTATA) c.2726-14_2726-7delinsCTTGTATA (n.2726-14_2726-7delinsCTTGTATA) c.*1209-14_*1209-7delinsCTTGTATA (n.*1209-14_*1209-7delinsCTTGTATA) c.*2733-14_*2733-7delinsCTTGTATA (n.*2733-14_*2733-7delinsCTTGTATA) c.2483-14_2483-7delinsCTTGTATA (n.2483-14_2483-7delinsCTTGTATA) c.500-14_500-7delinsCTTGTATA (n.500-14_500-7delinsCTTGTATA) c.559-14_559-7delinsCTTGTATA c.1691-14_1691-7delinsCTTGTATA (n.1691-14_1691-7delinsCTTGTATA) c.2819-14_2819-7delinsCTTGTATA (n.2819-14_2819-7delinsCTTGTATA) c.2999-14_2999-7delinsCTTGTATA (n.2999-14_2999-7delinsCTTGTATA) c.2666-14_2666-7delinsCTTGTATA (n.2666-14_2666-7delinsCTTGTATA) | |
7 | g.117606662del | CA2499218690 | CFTR | c.2909-12del (n.2909-12del) c.*2623-12del (n.*2623-12del) c.2726-12del (n.2726-12del) c.*1209-12del (n.*1209-12del) c.*2733-12del (n.*2733-12del) c.2483-12del (n.2483-12del) c.500-12del (n.500-12del) c.559-12del c.1691-12del (n.1691-12del) c.2819-12del (n.2819-12del) c.2999-12del (n.2999-12del) c.2666-12del (n.2666-12del) | ClinVar dbSNP |
7 | g.117606663_117606669del | CA326960 | CFTR | c.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 |
7 | g.117606662T>C | CA2684588057 | CFTR | c.2909-12T>C (n.2909-12T>C) c.*2623-12T>C (n.*2623-12T>C) c.2726-12T>C (n.2726-12T>C) c.*1209-12T>C (n.*1209-12T>C) c.*2733-12T>C (n.*2733-12T>C) c.2483-12T>C (n.2483-12T>C) c.500-12T>C (n.500-12T>C) c.559-12T>C c.1691-12T>C (n.1691-12T>C) c.2819-12T>C (n.2819-12T>C) c.2999-12T>C (n.2999-12T>C) c.2666-12T>C (n.2666-12T>C) | gnomAD v4 |
7 | g.117606662T>G | CA2684588058 | CFTR | c.2909-12T>G (n.2909-12T>G) c.*2623-12T>G (n.*2623-12T>G) c.2726-12T>G (n.2726-12T>G) c.*1209-12T>G (n.*1209-12T>G) c.*2733-12T>G (n.*2733-12T>G) c.2483-12T>G (n.2483-12T>G) c.500-12T>G (n.500-12T>G) c.559-12T>G c.1691-12T>G (n.1691-12T>G) c.2819-12T>G (n.2819-12T>G) c.2999-12T>G (n.2999-12T>G) c.2666-12T>G (n.2666-12T>G) | gnomAD v4 |
7 | g.117606663G>A | CA4451324 | CFTR | c.2909-11G>A (n.2909-11G>A) c.*2623-11G>A (n.*2623-11G>A) c.2726-11G>A (n.2726-11G>A) c.*1209-11G>A (n.*1209-11G>A) c.*2733-11G>A (n.*2733-11G>A) c.2483-11G>A (n.2483-11G>A) c.500-11G>A (n.500-11G>A) c.559-11G>A c.1691-11G>A (n.1691-11G>A) c.2819-11G>A (n.2819-11G>A) c.2999-11G>A (n.2999-11G>A) c.2666-11G>A (n.2666-11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606663G= | CA1737379358 | CFTR | c.2909-11G= (n.2909-11G=) c.*2623-11G= (n.*2623-11G=) c.2726-11G= (n.2726-11G=) c.*1209-11G= (n.*1209-11G=) c.*2733-11G= (n.*2733-11G=) c.2483-11G= (n.2483-11G=) c.500-11G= (n.500-11G=) c.559-11G= c.1691-11G= (n.1691-11G=) c.2819-11G= (n.2819-11G=) c.2999-11G= (n.2999-11G=) c.2666-11G= (n.2666-11G=) | |
7 | g.117606663G>T | CA577222491 | CFTR | c.2909-11G>T (n.2909-11G>T) c.*2623-11G>T (n.*2623-11G>T) c.2726-11G>T (n.2726-11G>T) c.*1209-11G>T (n.*1209-11G>T) c.*2733-11G>T (n.*2733-11G>T) c.2483-11G>T (n.2483-11G>T) c.500-11G>T (n.500-11G>T) c.559-11G>T c.1691-11G>T (n.1691-11G>T) c.2819-11G>T (n.2819-11G>T) c.2999-11G>T (n.2999-11G>T) c.2666-11G>T (n.2666-11G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117606664T>C | CA2580076404 | CFTR | c.2909-10T>C (n.2909-10T>C) c.*2623-10T>C (n.*2623-10T>C) c.2726-10T>C (n.2726-10T>C) c.*1209-10T>C (n.*1209-10T>C) c.*2733-10T>C (n.*2733-10T>C) c.2483-10T>C (n.2483-10T>C) c.500-10T>C (n.500-10T>C) c.559-10T>C c.1691-10T>C (n.1691-10T>C) c.2819-10T>C (n.2819-10T>C) c.2999-10T>C (n.2999-10T>C) c.2666-10T>C (n.2666-10T>C) | ClinVar gnomAD v4 |
7 | g.117606664T= | CA1737379361 | CFTR | c.2909-10T= (n.2909-10T=) c.*2623-10T= (n.*2623-10T=) c.2726-10T= (n.2726-10T=) c.*1209-10T= (n.*1209-10T=) c.*2733-10T= (n.*2733-10T=) c.2483-10T= (n.2483-10T=) c.500-10T= (n.500-10T=) c.559-10T= c.1691-10T= (n.1691-10T=) c.2819-10T= (n.2819-10T=) c.2999-10T= (n.2999-10T=) c.2666-10T= (n.2666-10T=) | |
7 | g.117606665A= | CA1737379375 | CFTR | c.2909-9A= (n.2909-9A=) c.*2623-9A= (n.*2623-9A=) c.2726-9A= (n.2726-9A=) c.*1209-9A= (n.*1209-9A=) c.*2733-9A= (n.*2733-9A=) c.2483-9A= (n.2483-9A=) c.500-9A= (n.500-9A=) c.559-9A= c.1691-9A= (n.1691-9A=) c.2819-9A= (n.2819-9A=) c.2999-9A= (n.2999-9A=) c.2666-9A= (n.2666-9A=) | |
7 | g.117606665A>G | CA4451325 | CFTR | c.2909-9A>G (n.2909-9A>G) c.*2623-9A>G (n.*2623-9A>G) c.2726-9A>G (n.2726-9A>G) c.*1209-9A>G (n.*1209-9A>G) c.*2733-9A>G (n.*2733-9A>G) c.2483-9A>G (n.2483-9A>G) c.500-9A>G (n.500-9A>G) c.559-9A>G c.1691-9A>G (n.1691-9A>G) c.2819-9A>G (n.2819-9A>G) c.2999-9A>G (n.2999-9A>G) c.2666-9A>G (n.2666-9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606666_117606667insTAAT | CA658822505 | CFTR | c.2909-8_2909-7insTAAT (n.2909-8_2909-7insTAAT) c.*2623-8_*2623-7insTAAT (n.*2623-8_*2623-7insTAAT) c.2726-8_2726-7insTAAT (n.2726-8_2726-7insTAAT) c.*1209-8_*1209-7insTAAT (n.*1209-8_*1209-7insTAAT) c.*2733-8_*2733-7insTAAT (n.*2733-8_*2733-7insTAAT) c.2483-8_2483-7insTAAT (n.2483-8_2483-7insTAAT) c.500-8_500-7insTAAT (n.500-8_500-7insTAAT) c.559-8_559-7insTAAT c.1691-8_1691-7insTAAT (n.1691-8_1691-7insTAAT) c.2819-8_2819-7insTAAT (n.2819-8_2819-7insTAAT) c.2999-8_2999-7insTAAT (n.2999-8_2999-7insTAAT) c.2666-8_2666-7insTAAT (n.2666-8_2666-7insTAAT) | ClinVar dbSNP |
7 | g.117606666T>A | CA1737379378 | CFTR | c.2909-8T>A (n.2909-8T>A) c.*2623-8T>A (n.*2623-8T>A) c.2726-8T>A (n.2726-8T>A) c.*1209-8T>A (n.*1209-8T>A) c.*2733-8T>A (n.*2733-8T>A) c.2483-8T>A (n.2483-8T>A) c.500-8T>A (n.500-8T>A) c.559-8T>A c.1691-8T>A (n.1691-8T>A) c.2819-8T>A (n.2819-8T>A) c.2999-8T>A (n.2999-8T>A) c.2666-8T>A (n.2666-8T>A) | dbSNP |
7 | g.117606666T>C | CA2684588059 | CFTR | c.2909-8T>C (n.2909-8T>C) c.*2623-8T>C (n.*2623-8T>C) c.2726-8T>C (n.2726-8T>C) c.*1209-8T>C (n.*1209-8T>C) c.*2733-8T>C (n.*2733-8T>C) c.2483-8T>C (n.2483-8T>C) c.500-8T>C (n.500-8T>C) c.559-8T>C c.1691-8T>C (n.1691-8T>C) c.2819-8T>C (n.2819-8T>C) c.2999-8T>C (n.2999-8T>C) c.2666-8T>C (n.2666-8T>C) | gnomAD v4 |
7 | g.117606666T= | CA1737379382 | CFTR | c.2909-8T= (n.2909-8T=) c.*2623-8T= (n.*2623-8T=) c.2726-8T= (n.2726-8T=) c.*1209-8T= (n.*1209-8T=) c.*2733-8T= (n.*2733-8T=) c.2483-8T= (n.2483-8T=) c.500-8T= (n.500-8T=) c.559-8T= c.1691-8T= (n.1691-8T=) c.2819-8T= (n.2819-8T=) c.2999-8T= (n.2999-8T=) c.2666-8T= (n.2666-8T=) | |
7 | g.117606667A= | CA1737379384 | CFTR | c.2909-7A= (n.2909-7A=) c.*2623-7A= (n.*2623-7A=) c.2726-7A= (n.2726-7A=) c.*1209-7A= (n.*1209-7A=) c.*2733-7A= (n.*2733-7A=) c.2483-7A= (n.2483-7A=) c.500-7A= (n.500-7A=) c.559-7A= c.1691-7A= (n.1691-7A=) c.2819-7A= (n.2819-7A=) c.2999-7A= (n.2999-7A=) c.2666-7A= (n.2666-7A=) | |
7 | g.117606667A>G | CA2684588060 | CFTR | c.2909-7A>G (n.2909-7A>G) c.*2623-7A>G (n.*2623-7A>G) c.2726-7A>G (n.2726-7A>G) c.*1209-7A>G (n.*1209-7A>G) c.*2733-7A>G (n.*2733-7A>G) c.2483-7A>G (n.2483-7A>G) c.500-7A>G (n.500-7A>G) c.559-7A>G c.1691-7A>G (n.1691-7A>G) c.2819-7A>G (n.2819-7A>G) c.2999-7A>G (n.2999-7A>G) c.2666-7A>G (n.2666-7A>G) | gnomAD v4 |
7 | g.117606667A>T | CA1737379385 | CFTR | c.2909-7A>T (n.2909-7A>T) c.*2623-7A>T (n.*2623-7A>T) c.2726-7A>T (n.2726-7A>T) c.*1209-7A>T (n.*1209-7A>T) c.*2733-7A>T (n.*2733-7A>T) c.2483-7A>T (n.2483-7A>T) c.500-7A>T (n.500-7A>T) c.559-7A>T c.1691-7A>T (n.1691-7A>T) c.2819-7A>T (n.2819-7A>T) c.2999-7A>T (n.2999-7A>T) c.2666-7A>T (n.2666-7A>T) | ClinVar dbSNP |
7 | g.117606684_117606685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT | CA2580076405 | CFTR | c.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 |
7 | g.117606668T>C | CA4451326 | CFTR | c.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 |
7 | g.117606668T= | CA1737379387 | CFTR | c.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=) | |
7 | g.117606669del | CA2684588061 | CFTR | c.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 |
7 | g.117606669T>C | CA2684588062 | CFTR | c.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 |
7 | g.117606670A= | CA1737379395 | CFTR | c.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=) | |
7 | g.117606670A>G | CA326963 | CFTR | c.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 |
7 | g.117606674_117606689dup | CA577222492 | CFTR | c.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 |
7 | g.117606671T>A | CA577222493 | CFTR | c.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 |
7 | g.117606671T>C | CA457228783 | CFTR | c.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 |
7 | g.117606671T= | CA1737379406 | CFTR | c.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=) | |
7 | g.117606672A= | CA1737379409 | CFTR | c.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=) | |
7 | g.117606672A>C | CA368988829 | CFTR | c.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 |
7 | g.117606672A>G | CA368988833 | CFTR | c.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 |
7 | g.117606672A>T | CA368988835 | CFTR | c.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 |
7 | g.117606672_117606673delinsAG | CA1737379411 | CFTR | c.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) | |
7 | g.117606676_117611810del | CA913190200 | CFTR | c.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 |
7 | g.117606673G>A | CA326962 | CFTR | c.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 |
7 | g.117606673G>C | CA368988855 | CFTR | c.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 |
7 | g.117606673G= | CA1737379420 | CFTR | c.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=) | |
7 | g.117606673G>T | CA368988851 | CFTR | c.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) | |
7 | g.117606674del | CA326966 | CFTR | c.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 |
7 | g.117606674G>A | CA326964 | CFTR | c.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 |
7 | g.117606674G>C | CA368988865 | CFTR | c.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) | |
7 | g.117606674G= | CA1737379434 | CFTR | c.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=) | |
7 | g.117606674G>T | CA368988869 | CFTR | c.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 |
7 | g.117606675T>A | CA457228784 | CFTR | c.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=) | |
7 | g.117606675T>C | CA457228785 | CFTR | c.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 |
7 | g.117606675T>G | CA457228786 | CFTR | c.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=) | |
7 | g.117606678_117606715del | CA913111895 | CFTR | c.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) | |
7 | g.117606676G>A | CA368988882 | CFTR | c.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 |
7 | g.117606676G>C | CA368988875 | CFTR | c.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) | |
7 | g.117606676G>T | CA368988878 | CFTR | c.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) | |
7 | g.117606678del | CA2684588063 | CFTR | c.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 |
7 | g.117606676_117606713delinsGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTT | CA1737379438 | CFTR | c.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=) | |
7 | g.117606677G>A | CA368988887 | CFTR | c.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 |
7 | g.117606677G>C | CA368988891 | CFTR | c.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) | |
7 | g.117606677G>T | CA368988895 | CFTR | c.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) | |
7 | g.117606681_117606717del | CA658822506 | CFTR | c.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 |
7 | g.117606678G>A | CA457228787 | CFTR | c.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 |
7 | g.117606678G>C | CA457228788 | CFTR | c.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 |
7 | g.117606678G>T | CA457228789 | CFTR | c.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 |
7 | g.117606679A>C | CA368988903 | CFTR | c.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 |
7 | g.117606679A>G | CA368988906 | CFTR | c.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 |
7 | g.117606679A>T | CA368988908 | CFTR | c.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) | |
7 | g.117606680T>A | CA368988909 | CFTR | c.2915T>A (p.Ile972Asn) c.*2629T>A (n.*2629T>A) c.2732T>A (p.Ile911Asn) c.*1215T>A (n.*1215T>A) c.*2739T>A (n.*2739T>A) c.2489T>A (p.Ile830Asn) c.506T>A (p.Ile169Asn) c.565T>A c.1697T>A (p.Ile566Asn) c.2825T>A (p.Ile942Asn) c.3005T>A (p.Ile1002Asn) c.2672T>A (p.Ile891Asn) | |
7 | g.117606680T>C | CA368988910 | CFTR | c.2915T>C (p.Ile972Thr) c.*2629T>C (n.*2629T>C) c.2732T>C (p.Ile911Thr) c.*1215T>C (n.*1215T>C) c.*2739T>C (n.*2739T>C) c.2489T>C (p.Ile830Thr) c.506T>C (p.Ile169Thr) c.565T>C c.1697T>C (p.Ile566Thr) c.2825T>C (p.Ile942Thr) c.3005T>C (p.Ile1002Thr) c.2672T>C (p.Ile891Thr) | gnomAD v4 |
7 | g.117606680T>G | CA368988911 | CFTR | c.2915T>G (p.Ile972Ser) c.*2629T>G (n.*2629T>G) c.2732T>G (p.Ile911Ser) c.*1215T>G (n.*1215T>G) c.*2739T>G (n.*2739T>G) c.2489T>G (p.Ile830Ser) c.506T>G (p.Ile169Ser) c.565T>G c.1697T>G (p.Ile566Ser) c.2825T>G (p.Ile942Ser) c.3005T>G (p.Ile1002Ser) c.2672T>G (p.Ile891Ser) | |
7 | g.117606681T>A | CA4451327 | CFTR | c.2916T>A (p.Ile972=) c.*2630T>A (n.*2630T>A) c.2733T>A (p.Ile911=) c.*1216T>A (n.*1216T>A) c.*2740T>A (n.*2740T>A) c.2490T>A (p.Ile830=) c.507T>A (p.Ile169=) c.566T>A c.1698T>A (p.Ile566=) c.2826T>A (p.Ile942=) c.3006T>A (p.Ile1002=) c.2673T>A (p.Ile891=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606681T>C | CA457228790 | CFTR | c.2916T>C (p.Ile972=) c.*2630T>C (n.*2630T>C) c.2733T>C (p.Ile911=) c.*1216T>C (n.*1216T>C) c.*2740T>C (n.*2740T>C) c.2490T>C (p.Ile830=) c.507T>C (p.Ile169=) c.566T>C c.1698T>C (p.Ile566=) c.2826T>C (p.Ile942=) c.3006T>C (p.Ile1002=) c.2673T>C (p.Ile891=) | ClinVar gnomAD v4 |
7 | g.117606681T>G | CA368988915 | CFTR | c.2916T>G (p.Ile972Met) c.*2630T>G (n.*2630T>G) c.2733T>G (p.Ile911Met) c.*1216T>G (n.*1216T>G) c.*2740T>G (n.*2740T>G) c.2490T>G (p.Ile830Met) c.507T>G (p.Ile169Met) c.566T>G c.1698T>G (p.Ile566Met) c.2826T>G (p.Ile942Met) c.3006T>G (p.Ile1002Met) c.2673T>G (p.Ile891Met) | |
7 | g.117606681T= | CA1737379459 | CFTR | c.2916T= (p.Ile972=) c.*2630T= (n.*2630T=) c.2733T= (p.Ile911=) c.*1216T= (n.*1216T=) c.*2740T= (n.*2740T=) c.2490T= (p.Ile830=) c.507T= (p.Ile169=) c.566T= c.1698T= (p.Ile566=) c.2826T= (p.Ile942=) c.3006T= (p.Ile1002=) c.2673T= (p.Ile891=) | |
7 | g.117606681_117606682delinsAT | CA326967 | CFTR | c.2916_2917delinsAT (p.Leu973Phe) c.*2630_*2631delinsAT (n.*2630_*2631delinsAT) c.2733_2734delinsAT (p.Leu912Phe) c.*1216_*1217delinsAT (n.*1216_*1217delinsAT) c.*2740_*2741delinsAT (n.*2740_*2741delinsAT) c.2490_2491delinsAT (p.Leu831Phe) c.507_508delinsAT (p.Leu170Phe) c.566_567delinsAT c.1698_1699delinsAT (p.Leu567Phe) c.2826_2827delinsAT (p.Leu943Phe) c.3006_3007delinsAT (p.Leu1003Phe) c.2673_2674delinsAT (p.Leu892Phe) | ClinVar dbSNP |
7 | g.117606681_117606682delinsTC | CA1737379455 | CFTR | c.2916_2917delinsTC (p.Ile972=) c.*2630_*2631delinsTC (n.*2630_*2631delinsTC) c.2733_2734delinsTC (p.Ile911=) c.*1216_*1217delinsTC (n.*1216_*1217delinsTC) c.*2740_*2741delinsTC (n.*2740_*2741delinsTC) c.2490_2491delinsTC (p.Ile830=) c.507_508delinsTC (p.Ile169=) c.566_567delinsTC c.1698_1699delinsTC (p.Ile566=) c.2826_2827delinsTC (p.Ile942=) c.3006_3007delinsTC (p.Ile1002=) c.2673_2674delinsTC (p.Ile891=) | |
7 | g.117606682C>A | CA368988921 | CFTR | c.2917C>A (p.Leu973Ile) c.*2631C>A (n.*2631C>A) c.2734C>A (p.Leu912Ile) c.*1217C>A (n.*1217C>A) c.*2741C>A (n.*2741C>A) c.2491C>A (p.Leu831Ile) c.508C>A (p.Leu170Ile) c.567C>A c.1699C>A (p.Leu567Ile) c.2827C>A (p.Leu943Ile) c.3007C>A (p.Leu1003Ile) c.2674C>A (p.Leu892Ile) | gnomAD v4 |
7 | g.117606682C= | CA1737379467 | CFTR | c.2917C= (p.Leu973=) c.*2631C= (n.*2631C=) c.2734C= (p.Leu912=) c.*1217C= (n.*1217C=) c.*2741C= (n.*2741C=) c.2491C= (p.Leu831=) c.508C= (p.Leu170=) c.567C= c.1699C= (p.Leu567=) c.2827C= (p.Leu943=) c.3007C= (p.Leu1003=) c.2674C= (p.Leu892=) | |
7 | g.117606682C>G | CA368988927 | CFTR | c.2917C>G (p.Leu973Val) c.*2631C>G (n.*2631C>G) c.2734C>G (p.Leu912Val) c.*1217C>G (n.*1217C>G) c.*2741C>G (n.*2741C>G) c.2491C>G (p.Leu831Val) c.508C>G (p.Leu170Val) c.567C>G c.1699C>G (p.Leu567Val) c.2827C>G (p.Leu943Val) c.3007C>G (p.Leu1003Val) c.2674C>G (p.Leu892Val) | |
7 | g.117606682C>T | CA4451328 | CFTR | c.2917C>T (p.Leu973Phe) c.*2631C>T (n.*2631C>T) c.2734C>T (p.Leu912Phe) c.*1217C>T (n.*1217C>T) c.*2741C>T (n.*2741C>T) c.2491C>T (p.Leu831Phe) c.508C>T (p.Leu170Phe) c.567C>T c.1699C>T (p.Leu567Phe) c.2827C>T (p.Leu943Phe) c.3007C>T (p.Leu1003Phe) c.2674C>T (p.Leu892Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606683T>A | CA326969 | CFTR | c.2918T>A (p.Leu973His) c.*2632T>A (n.*2632T>A) c.2735T>A (p.Leu912His) c.*1218T>A (n.*1218T>A) c.*2742T>A (n.*2742T>A) c.2492T>A (p.Leu831His) c.509T>A (p.Leu170His) c.568T>A c.1700T>A (p.Leu567His) c.2828T>A (p.Leu943His) c.3008T>A (p.Leu1003His) c.2675T>A (p.Leu892His) | dbSNP |
7 | g.117606683T>C | CA326971 | CFTR | c.2918T>C (p.Leu973Pro) c.*2632T>C (n.*2632T>C) c.2735T>C (p.Leu912Pro) c.*1218T>C (n.*1218T>C) c.*2742T>C (n.*2742T>C) c.2492T>C (p.Leu831Pro) c.509T>C (p.Leu170Pro) c.568T>C c.1700T>C (p.Leu567Pro) c.2828T>C (p.Leu943Pro) c.3008T>C (p.Leu1003Pro) c.2675T>C (p.Leu892Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117606683T>G | CA368988934 | CFTR | c.2918T>G (p.Leu973Arg) c.*2632T>G (n.*2632T>G) c.2735T>G (p.Leu912Arg) c.*1218T>G (n.*1218T>G) c.*2742T>G (n.*2742T>G) c.2492T>G (p.Leu831Arg) c.509T>G (p.Leu170Arg) c.568T>G c.1700T>G (p.Leu567Arg) c.2828T>G (p.Leu943Arg) c.3008T>G (p.Leu1003Arg) c.2675T>G (p.Leu892Arg) | |
7 | g.117606683T= | CA1737379469 | CFTR | c.2918T= (p.Leu973=) c.*2632T= (n.*2632T=) c.2735T= (p.Leu912=) c.*1218T= (n.*1218T=) c.*2742T= (n.*2742T=) c.2492T= (p.Leu831=) c.509T= (p.Leu170=) c.568T= c.1700T= (p.Leu567=) c.2828T= (p.Leu943=) c.3008T= (p.Leu1003=) c.2675T= (p.Leu892=) | |
7 | g.117606684T>A | CA457228791 | CFTR | c.2919T>A (p.Leu973=) c.*2633T>A (n.*2633T>A) c.2736T>A (p.Leu912=) c.*1219T>A (n.*1219T>A) c.*2743T>A (n.*2743T>A) c.2493T>A (p.Leu831=) c.510T>A (p.Leu170=) c.569T>A c.1701T>A (p.Leu567=) c.2829T>A (p.Leu943=) c.3009T>A (p.Leu1003=) c.2676T>A (p.Leu892=) | ClinVar dbSNP gnomAD v4 |
7 | g.117606684T>C | CA457228792 | CFTR | c.2919T>C (p.Leu973=) c.*2633T>C (n.*2633T>C) c.2736T>C (p.Leu912=) c.*1219T>C (n.*1219T>C) c.*2743T>C (n.*2743T>C) c.2493T>C (p.Leu831=) c.510T>C (p.Leu170=) c.569T>C c.1701T>C (p.Leu567=) c.2829T>C (p.Leu943=) c.3009T>C (p.Leu1003=) c.2676T>C (p.Leu892=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117606684T>G | CA457228793 | CFTR | c.2919T>G (p.Leu973=) c.*2633T>G (n.*2633T>G) c.2736T>G (p.Leu912=) c.*1219T>G (n.*1219T>G) c.*2743T>G (n.*2743T>G) c.2493T>G (p.Leu831=) c.510T>G (p.Leu170=) c.569T>G c.1701T>G (p.Leu567=) c.2829T>G (p.Leu943=) c.3009T>G (p.Leu1003=) c.2676T>G (p.Leu892=) | |
7 | g.117606684T= | CA1737379479 | CFTR | c.2919T= (p.Leu973=) c.*2633T= (n.*2633T=) c.2736T= (p.Leu912=) c.*1219T= (n.*1219T=) c.*2743T= (n.*2743T=) c.2493T= (p.Leu831=) c.510T= (p.Leu170=) c.569T= c.1701T= (p.Leu567=) c.2829T= (p.Leu943=) c.3009T= (p.Leu1003=) c.2676T= (p.Leu892=) | |
7 | g.117606685A>C | CA368988937 | CFTR | c.2920A>C (p.Asn974His) c.*2634A>C (n.*2634A>C) c.2737A>C (p.Asn913His) c.*1220A>C (n.*1220A>C) c.*2744A>C (n.*2744A>C) c.2494A>C (p.Asn832His) c.511A>C (p.Asn171His) c.570A>C c.1702A>C (p.Asn568His) c.2830A>C (p.Asn944His) c.3010A>C (p.Asn1004His) c.2677A>C (p.Asn893His) | |
7 | g.117606685A>G | CA368988940 | CFTR | c.2920A>G (p.Asn974Asp) c.*2634A>G (n.*2634A>G) c.2737A>G (p.Asn913Asp) c.*1220A>G (n.*1220A>G) c.*2744A>G (n.*2744A>G) c.2494A>G (p.Asn832Asp) c.511A>G (p.Asn171Asp) c.570A>G c.1702A>G (p.Asn568Asp) c.2830A>G (p.Asn944Asp) c.3010A>G (p.Asn1004Asp) c.2677A>G (p.Asn893Asp) | |
7 | g.117606685A>T | CA368988943 | CFTR | c.2920A>T (p.Asn974Tyr) c.*2634A>T (n.*2634A>T) c.2737A>T (p.Asn913Tyr) c.*1220A>T (n.*1220A>T) c.*2744A>T (n.*2744A>T) c.2494A>T (p.Asn832Tyr) c.511A>T (p.Asn171Tyr) c.570A>T c.1702A>T (p.Asn568Tyr) c.2830A>T (p.Asn944Tyr) c.3010A>T (p.Asn1004Tyr) c.2677A>T (p.Asn893Tyr) | |
7 | g.117606686A>C | CA368988948 | CFTR | c.2921A>C (p.Asn974Thr) c.*2635A>C (n.*2635A>C) c.2738A>C (p.Asn913Thr) c.*1221A>C (n.*1221A>C) c.*2745A>C (n.*2745A>C) c.2495A>C (p.Asn832Thr) c.512A>C (p.Asn171Thr) c.571A>C c.1703A>C (p.Asn568Thr) c.2831A>C (p.Asn944Thr) c.3011A>C (p.Asn1004Thr) c.2678A>C (p.Asn893Thr) | |
7 | g.117606686A>G | CA368988953 | CFTR | c.2921A>G (p.Asn974Ser) c.*2635A>G (n.*2635A>G) c.2738A>G (p.Asn913Ser) c.*1221A>G (n.*1221A>G) c.*2745A>G (n.*2745A>G) c.2495A>G (p.Asn832Ser) c.512A>G (p.Asn171Ser) c.571A>G c.1703A>G (p.Asn568Ser) c.2831A>G (p.Asn944Ser) c.3011A>G (p.Asn1004Ser) c.2678A>G (p.Asn893Ser) | gnomAD v4 |
7 | g.117606686A>T | CA368988954 | CFTR | c.2921A>T (p.Asn974Ile) c.*2635A>T (n.*2635A>T) c.2738A>T (p.Asn913Ile) c.*1221A>T (n.*1221A>T) c.*2745A>T (n.*2745A>T) c.2495A>T (p.Asn832Ile) c.512A>T (p.Asn171Ile) c.571A>T c.1703A>T (p.Asn568Ile) c.2831A>T (p.Asn944Ile) c.3011A>T (p.Asn1004Ile) c.2678A>T (p.Asn893Ile) | |
7 | g.117606687T>A | CA368988956 | CFTR | c.2922T>A (p.Asn974Lys) c.*2636T>A (n.*2636T>A) c.2739T>A (p.Asn913Lys) c.*1222T>A (n.*1222T>A) c.*2746T>A (n.*2746T>A) c.2496T>A (p.Asn832Lys) c.513T>A (p.Asn171Lys) c.572T>A c.1704T>A (p.Asn568Lys) c.2832T>A (p.Asn944Lys) c.3012T>A (p.Asn1004Lys) c.2679T>A (p.Asn893Lys) | |
7 | g.117606687T>C | CA457228794 | CFTR | c.2922T>C (p.Asn974=) c.*2636T>C (n.*2636T>C) c.2739T>C (p.Asn913=) c.*1222T>C (n.*1222T>C) c.*2746T>C (n.*2746T>C) c.2496T>C (p.Asn832=) c.513T>C (p.Asn171=) c.572T>C c.1704T>C (p.Asn568=) c.2832T>C (p.Asn944=) c.3012T>C (p.Asn1004=) c.2679T>C (p.Asn893=) | ClinVar gnomAD v4 |
7 | g.117606687T>G | CA368988960 | CFTR | c.2922T>G (p.Asn974Lys) c.*2636T>G (n.*2636T>G) c.2739T>G (p.Asn913Lys) c.*1222T>G (n.*1222T>G) c.*2746T>G (n.*2746T>G) c.2496T>G (p.Asn832Lys) c.513T>G (p.Asn171Lys) c.572T>G c.1704T>G (p.Asn568Lys) c.2832T>G (p.Asn944Lys) c.3012T>G (p.Asn1004Lys) c.2679T>G (p.Asn893Lys) | |
7 | g.117606687_117606689delinsTAG | CA1737379482 | CFTR | c.2922_2924delinsTAG (p.Asn974=) c.*2636_*2638delinsTAG (n.*2636_*2638delinsTAG) c.2739_2741delinsTAG (p.Asn913=) c.*1222_*1224delinsTAG (n.*1222_*1224delinsTAG) c.*2746_*2748delinsTAG (n.*2746_*2748delinsTAG) c.2496_2498delinsTAG (p.Asn832=) c.513_515delinsTAG (p.Asn171=) c.572_574delinsTAG c.1704_1706delinsTAG (p.Asn568=) c.2832_2834delinsTAG (p.Asn944=) c.3012_3014delinsTAG (p.Asn1004=) c.2679_2681delinsTAG (p.Asn893=) | |
7 | g.117606688A>C | CA457228795 | CFTR | c.2923A>C (p.Arg975=) c.*2637A>C (n.*2637A>C) c.2740A>C (p.Arg914=) c.*1223A>C (n.*1223A>C) c.*2747A>C (n.*2747A>C) c.2497A>C (p.Arg833=) c.514A>C (p.Arg172=) c.573A>C c.1705A>C (p.Arg569=) c.2833A>C (p.Arg945=) c.3013A>C (p.Arg1005=) c.2680A>C (p.Arg894=) | |
7 | g.117606688A>G | CA368988963 | CFTR | c.2923A>G (p.Arg975Gly) c.*2637A>G (n.*2637A>G) c.2740A>G (p.Arg914Gly) c.*1223A>G (n.*1223A>G) c.*2747A>G (n.*2747A>G) c.2497A>G (p.Arg833Gly) c.514A>G (p.Arg172Gly) c.573A>G c.1705A>G (p.Arg569Gly) c.2833A>G (p.Arg945Gly) c.3013A>G (p.Arg1005Gly) c.2680A>G (p.Arg894Gly) | gnomAD v4 |
7 | g.117606688A>T | CA368988965 | CFTR | c.2923A>T (p.Arg975Ter) c.*2637A>T (n.*2637A>T) c.2740A>T (p.Arg914Ter) c.*1223A>T (n.*1223A>T) c.*2747A>T (n.*2747A>T) c.2497A>T (p.Arg833Ter) c.514A>T (p.Arg172Ter) c.573A>T c.1705A>T (p.Arg569Ter) c.2833A>T (p.Arg945Ter) c.3013A>T (p.Arg1005Ter) c.2680A>T (p.Arg894Ter) | gnomAD v4 |
7 | g.117606689_117606690del | CA915945432 | CFTR | c.2924_2925del (p.Arg975IlefsTer10) c.*2638_*2639del (n.*2638_*2639del) c.2741_2742del (p.Arg914IlefsTer10) c.*1224_*1225del (n.*1224_*1225del) c.*2748_*2749del (n.*2748_*2749del) c.2498_2499del (p.Arg833IlefsTer10) c.515_516del (p.Arg172IlefsTer10) c.574_575del c.1706_1707del (p.Arg569IlefsTer10) c.2834_2835del (p.Arg945IlefsTer10) c.3014_3015del (p.Arg1005IlefsTer10) c.2681_2682del (p.Arg894IlefsTer10) | ClinVar dbSNP gnomAD v4 |
7 | g.117606689G>A | CA368988969 | CFTR | c.2924G>A (p.Arg975Lys) c.*2638G>A (n.*2638G>A) c.2741G>A (p.Arg914Lys) c.*1224G>A (n.*1224G>A) c.*2748G>A (n.*2748G>A) c.2498G>A (p.Arg833Lys) c.515G>A (p.Arg172Lys) c.574G>A c.1706G>A (p.Arg569Lys) c.2834G>A (p.Arg945Lys) c.3014G>A (p.Arg1005Lys) c.2681G>A (p.Arg894Lys) | |
7 | g.117606689G>C | CA368988973 | CFTR | c.2924G>C (p.Arg975Thr) c.*2638G>C (n.*2638G>C) c.2741G>C (p.Arg914Thr) c.*1224G>C (n.*1224G>C) c.*2748G>C (n.*2748G>C) c.2498G>C (p.Arg833Thr) c.515G>C (p.Arg172Thr) c.574G>C c.1706G>C (p.Arg569Thr) c.2834G>C (p.Arg945Thr) c.3014G>C (p.Arg1005Thr) c.2681G>C (p.Arg894Thr) | |
7 | g.117606689G>T | CA368988972 | CFTR | c.2924G>T (p.Arg975Ile) c.*2638G>T (n.*2638G>T) c.2741G>T (p.Arg914Ile) c.*1224G>T (n.*1224G>T) c.*2748G>T (n.*2748G>T) c.2498G>T (p.Arg833Ile) c.515G>T (p.Arg172Ile) c.574G>T c.1706G>T (p.Arg569Ile) c.2834G>T (p.Arg945Ile) c.3014G>T (p.Arg1005Ile) c.2681G>T (p.Arg894Ile) | |
7 | g.117606690A= | CA1737379491 | CFTR | c.2925A= (p.Arg975=) c.*2639A= (n.*2639A=) c.2742A= (p.Arg914=) c.*1225A= (n.*1225A=) c.*2749A= (n.*2749A=) c.2499A= (p.Arg833=) c.516A= (p.Arg172=) c.575A= c.1707A= (p.Arg569=) c.2835A= (p.Arg945=) c.3015A= (p.Arg1005=) c.2682A= (p.Arg894=) | |
7 | g.117606690A>C | CA368988978 | CFTR | c.2925A>C (p.Arg975Ser) c.*2639A>C (n.*2639A>C) c.2742A>C (p.Arg914Ser) c.*1225A>C (n.*1225A>C) c.*2749A>C (n.*2749A>C) c.2499A>C (p.Arg833Ser) c.516A>C (p.Arg172Ser) c.575A>C c.1707A>C (p.Arg569Ser) c.2835A>C (p.Arg945Ser) c.3015A>C (p.Arg1005Ser) c.2682A>C (p.Arg894Ser) | |
7 | g.117606690A>G | CA457228796 | CFTR | c.2925A>G (p.Arg975=) c.*2639A>G (n.*2639A>G) c.2742A>G (p.Arg914=) c.*1225A>G (n.*1225A>G) c.*2749A>G (n.*2749A>G) c.2499A>G (p.Arg833=) c.516A>G (p.Arg172=) c.575A>G c.1707A>G (p.Arg569=) c.2835A>G (p.Arg945=) c.3015A>G (p.Arg1005=) c.2682A>G (p.Arg894=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117606690A>T | CA368988981 | CFTR | c.2925A>T (p.Arg975Ser) c.*2639A>T (n.*2639A>T) c.2742A>T (p.Arg914Ser) c.*1225A>T (n.*1225A>T) c.*2749A>T (n.*2749A>T) c.2499A>T (p.Arg833Ser) c.516A>T (p.Arg172Ser) c.575A>T c.1707A>T (p.Arg569Ser) c.2835A>T (p.Arg945Ser) c.3015A>T (p.Arg1005Ser) c.2682A>T (p.Arg894Ser) | |
7 | g.117606691T>A | CA368988984 | CFTR | c.2926T>A (p.Phe976Ile) c.*2640T>A (n.*2640T>A) c.2743T>A (p.Phe915Ile) c.*1226T>A (n.*1226T>A) c.*2750T>A (n.*2750T>A) c.2500T>A (p.Phe834Ile) c.517T>A (p.Phe173Ile) c.576T>A c.1708T>A (p.Phe570Ile) c.2836T>A (p.Phe946Ile) c.3016T>A (p.Phe1006Ile) c.2683T>A (p.Phe895Ile) | |
7 | g.117606691T>C | CA368988986 | CFTR | c.2926T>C (p.Phe976Leu) c.*2640T>C (n.*2640T>C) c.2743T>C (p.Phe915Leu) c.*1226T>C (n.*1226T>C) c.*2750T>C (n.*2750T>C) c.2500T>C (p.Phe834Leu) c.517T>C (p.Phe173Leu) c.576T>C c.1708T>C (p.Phe570Leu) c.2836T>C (p.Phe946Leu) c.3016T>C (p.Phe1006Leu) c.2683T>C (p.Phe895Leu) | gnomAD v4 |
7 | g.117606691T>G | CA368988991 | CFTR | c.2926T>G (p.Phe976Val) c.*2640T>G (n.*2640T>G) c.2743T>G (p.Phe915Val) c.*1226T>G (n.*1226T>G) c.*2750T>G (n.*2750T>G) c.2500T>G (p.Phe834Val) c.517T>G (p.Phe173Val) c.576T>G c.1708T>G (p.Phe570Val) c.2836T>G (p.Phe946Val) c.3016T>G (p.Phe1006Val) c.2683T>G (p.Phe895Val) | |
7 | g.117606692T>A | CA368988995 | CFTR | c.2927T>A (p.Phe976Tyr) c.*2641T>A (n.*2641T>A) c.2744T>A (p.Phe915Tyr) c.*1227T>A (n.*1227T>A) c.*2751T>A (n.*2751T>A) c.2501T>A (p.Phe834Tyr) c.518T>A (p.Phe173Tyr) c.577T>A c.1709T>A (p.Phe570Tyr) c.2837T>A (p.Phe946Tyr) c.3017T>A (p.Phe1006Tyr) c.2684T>A (p.Phe895Tyr) | |
7 | g.117606692T>C | CA4451329 | CFTR | c.2927T>C (p.Phe976Ser) c.*2641T>C (n.*2641T>C) c.2744T>C (p.Phe915Ser) c.*1227T>C (n.*1227T>C) c.*2751T>C (n.*2751T>C) c.2501T>C (p.Phe834Ser) c.518T>C (p.Phe173Ser) c.577T>C c.1709T>C (p.Phe570Ser) c.2837T>C (p.Phe946Ser) c.3017T>C (p.Phe1006Ser) c.2684T>C (p.Phe895Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117606692T>G | CA368989000 | CFTR | c.2927T>G (p.Phe976Cys) c.*2641T>G (n.*2641T>G) c.2744T>G (p.Phe915Cys) c.*1227T>G (n.*1227T>G) c.*2751T>G (n.*2751T>G) c.2501T>G (p.Phe834Cys) c.518T>G (p.Phe173Cys) c.577T>G c.1709T>G (p.Phe570Cys) c.2837T>G (p.Phe946Cys) c.3017T>G (p.Phe1006Cys) c.2684T>G (p.Phe895Cys) | |
7 | g.117606692T= | CA1737379496 | CFTR | c.2927T= (p.Phe976=) c.*2641T= (n.*2641T=) c.2744T= (p.Phe915=) c.*1227T= (n.*1227T=) c.*2751T= (n.*2751T=) c.2501T= (p.Phe834=) c.518T= (p.Phe173=) c.577T= c.1709T= (p.Phe570=) c.2837T= (p.Phe946=) c.3017T= (p.Phe1006=) c.2684T= (p.Phe895=) | |
7 | g.117606693C>A | CA4451331 | CFTR | c.2928C>A (p.Phe976Leu) c.*2642C>A (n.*2642C>A) c.2745C>A (p.Phe915Leu) c.*1228C>A (n.*1228C>A) c.*2752C>A (n.*2752C>A) c.2502C>A (p.Phe834Leu) c.519C>A (p.Phe173Leu) c.578C>A c.1710C>A (p.Phe570Leu) c.2838C>A (p.Phe946Leu) c.3018C>A (p.Phe1006Leu) c.2685C>A (p.Phe895Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117606693C= | CA1737379506 | CFTR | c.2928C= (p.Phe976=) c.*2642C= (n.*2642C=) c.2745C= (p.Phe915=) c.*1228C= (n.*1228C=) c.*2752C= (n.*2752C=) c.2502C= (p.Phe834=) c.519C= (p.Phe173=) c.578C= c.1710C= (p.Phe570=) c.2838C= (p.Phe946=) c.3018C= (p.Phe1006=) c.2685C= (p.Phe895=) | |
7 | g.117606693C>G | CA4451330 | CFTR | c.2928C>G (p.Phe976Leu) c.*2642C>G (n.*2642C>G) c.2745C>G (p.Phe915Leu) c.*1228C>G (n.*1228C>G) c.*2752C>G (n.*2752C>G) c.2502C>G (p.Phe834Leu) c.519C>G (p.Phe173Leu) c.578C>G c.1710C>G (p.Phe570Leu) c.2838C>G (p.Phe946Leu) c.3018C>G (p.Phe1006Leu) c.2685C>G (p.Phe895Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606693C>T | CA457228800 | CFTR | c.2928C>T (p.Phe976=) c.*2642C>T (n.*2642C>T) c.2745C>T (p.Phe915=) c.*1228C>T (n.*1228C>T) c.*2752C>T (n.*2752C>T) c.2502C>T (p.Phe834=) c.519C>T (p.Phe173=) c.578C>T c.1710C>T (p.Phe570=) c.2838C>T (p.Phe946=) c.3018C>T (p.Phe1006=) c.2685C>T (p.Phe895=) | |
7 | g.117606694T>A | CA368989010 | CFTR | c.2929T>A (p.Ser977Thr) c.*2643T>A (n.*2643T>A) c.2746T>A (p.Ser916Thr) c.*1229T>A (n.*1229T>A) c.*2753T>A (n.*2753T>A) c.2503T>A (p.Ser835Thr) c.520T>A (p.Ser174Thr) c.579T>A c.1711T>A (p.Ser571Thr) c.2839T>A (p.Ser947Thr) c.3019T>A (p.Ser1007Thr) c.2686T>A (p.Ser896Thr) | |
7 | g.117606694T>C | CA326973 | CFTR | c.2929T>C (p.Ser977Pro) c.*2643T>C (n.*2643T>C) c.2746T>C (p.Ser916Pro) c.*1229T>C (n.*1229T>C) c.*2753T>C (n.*2753T>C) c.2503T>C (p.Ser835Pro) c.520T>C (p.Ser174Pro) c.579T>C c.1711T>C (p.Ser571Pro) c.2839T>C (p.Ser947Pro) c.3019T>C (p.Ser1007Pro) c.2686T>C (p.Ser896Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117606694T>G | CA4451332 | CFTR | c.2929T>G (p.Ser977Ala) c.*2643T>G (n.*2643T>G) c.2746T>G (p.Ser916Ala) c.*1229T>G (n.*1229T>G) c.*2753T>G (n.*2753T>G) c.2503T>G (p.Ser835Ala) c.520T>G (p.Ser174Ala) c.579T>G c.1711T>G (p.Ser571Ala) c.2839T>G (p.Ser947Ala) c.3019T>G (p.Ser1007Ala) c.2686T>G (p.Ser896Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606694T= | CA1737379516 | CFTR | c.2929T= (p.Ser977=) c.*2643T= (n.*2643T=) c.2746T= (p.Ser916=) c.*1229T= (n.*1229T=) c.*2753T= (n.*2753T=) c.2503T= (p.Ser835=) c.520T= (p.Ser174=) c.579T= c.1711T= (p.Ser571=) c.2839T= (p.Ser947=) c.3019T= (p.Ser1007=) c.2686T= (p.Ser896=) | |
7 | g.117606695C>A | CA368989016 | CFTR | c.2930C>A (p.Ser977Tyr) c.*2644C>A (n.*2644C>A) c.2747C>A (p.Ser916Tyr) c.*1230C>A (n.*1230C>A) c.*2754C>A (n.*2754C>A) c.2504C>A (p.Ser835Tyr) c.521C>A (p.Ser174Tyr) c.580C>A c.1712C>A (p.Ser571Tyr) c.2840C>A (p.Ser947Tyr) c.3020C>A (p.Ser1007Tyr) c.2687C>A (p.Ser896Tyr) | |
7 | g.117606695C= | CA1737379527 | CFTR | c.2930C= (p.Ser977=) c.*2644C= (n.*2644C=) c.2747C= (p.Ser916=) c.*1230C= (n.*1230C=) c.*2754C= (n.*2754C=) c.2504C= (p.Ser835=) c.521C= (p.Ser174=) c.580C= c.1712C= (p.Ser571=) c.2840C= (p.Ser947=) c.3020C= (p.Ser1007=) c.2687C= (p.Ser896=) | |
7 | g.117606695C>G | CA368989013 | CFTR | c.2930C>G (p.Ser977Cys) c.*2644C>G (n.*2644C>G) c.2747C>G (p.Ser916Cys) c.*1230C>G (n.*1230C>G) c.*2754C>G (n.*2754C>G) c.2504C>G (p.Ser835Cys) c.521C>G (p.Ser174Cys) c.580C>G c.1712C>G (p.Ser571Cys) c.2840C>G (p.Ser947Cys) c.3020C>G (p.Ser1007Cys) c.2687C>G (p.Ser896Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117606695C>T | CA326975 | CFTR | c.2930C>T (p.Ser977Phe) c.*2644C>T (n.*2644C>T) c.2747C>T (p.Ser916Phe) c.*1230C>T (n.*1230C>T) c.*2754C>T (n.*2754C>T) c.2504C>T (p.Ser835Phe) c.521C>T (p.Ser174Phe) c.580C>T c.1712C>T (p.Ser571Phe) c.2840C>T (p.Ser947Phe) c.3020C>T (p.Ser1007Phe) c.2687C>T (p.Ser896Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606696C>A | CA457228802 | CFTR | c.2931C>A (p.Ser977=) c.*2645C>A (n.*2645C>A) c.2748C>A (p.Ser916=) c.*1231C>A (n.*1231C>A) c.*2755C>A (n.*2755C>A) c.2505C>A (p.Ser835=) c.522C>A (p.Ser174=) c.581C>A c.1713C>A (p.Ser571=) c.2841C>A (p.Ser947=) c.3021C>A (p.Ser1007=) c.2688C>A (p.Ser896=) | gnomAD v4 |
7 | g.117606696C= | CA1737379530 | CFTR | c.2931C= (p.Ser977=) c.*2645C= (n.*2645C=) c.2748C= (p.Ser916=) c.*1231C= (n.*1231C=) c.*2755C= (n.*2755C=) c.2505C= (p.Ser835=) c.522C= (p.Ser174=) c.581C= c.1713C= (p.Ser571=) c.2841C= (p.Ser947=) c.3021C= (p.Ser1007=) c.2688C= (p.Ser896=) | |
7 | g.117606696C>G | CA457228803 | CFTR | c.2931C>G (p.Ser977=) c.*2645C>G (n.*2645C>G) c.2748C>G (p.Ser916=) c.*1231C>G (n.*1231C>G) c.*2755C>G (n.*2755C>G) c.2505C>G (p.Ser835=) c.522C>G (p.Ser174=) c.581C>G c.1713C>G (p.Ser571=) c.2841C>G (p.Ser947=) c.3021C>G (p.Ser1007=) c.2688C>G (p.Ser896=) | |
7 | g.117606696C>T | CA457228804 | CFTR | c.2931C>T (p.Ser977=) c.*2645C>T (n.*2645C>T) c.2748C>T (p.Ser916=) c.*1231C>T (n.*1231C>T) c.*2755C>T (n.*2755C>T) c.2505C>T (p.Ser835=) c.522C>T (p.Ser174=) c.581C>T c.1713C>T (p.Ser571=) c.2841C>T (p.Ser947=) c.3021C>T (p.Ser1007=) c.2688C>T (p.Ser896=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117606697A= | CA1737379535 | CFTR | c.2932A= (p.Lys978=) c.*2646A= (n.*2646A=) c.2749A= (p.Lys917=) c.*1232A= (n.*1232A=) c.*2756A= (n.*2756A=) c.2506A= (p.Lys836=) c.523A= (p.Lys175=) c.582A= c.1714A= (p.Lys572=) c.2842A= (p.Lys948=) c.3022A= (p.Lys1008=) c.2689A= (p.Lys897=) | |
7 | g.117606697A>C | CA368989018 | CFTR | c.2932A>C (p.Lys978Gln) c.*2646A>C (n.*2646A>C) c.2749A>C (p.Lys917Gln) c.*1232A>C (n.*1232A>C) c.*2756A>C (n.*2756A>C) c.2506A>C (p.Lys836Gln) c.523A>C (p.Lys175Gln) c.582A>C c.1714A>C (p.Lys572Gln) c.2842A>C (p.Lys948Gln) c.3022A>C (p.Lys1008Gln) c.2689A>C (p.Lys897Gln) | |
7 | g.117606697A>G | CA368989020 | CFTR | c.2932A>G (p.Lys978Glu) c.*2646A>G (n.*2646A>G) c.2749A>G (p.Lys917Glu) c.*1232A>G (n.*1232A>G) c.*2756A>G (n.*2756A>G) c.2506A>G (p.Lys836Glu) c.523A>G (p.Lys175Glu) c.582A>G c.1714A>G (p.Lys572Glu) c.2842A>G (p.Lys948Glu) c.3022A>G (p.Lys1008Glu) c.2689A>G (p.Lys897Glu) | |
7 | g.117606697A>T | CA325702 | CFTR | c.2932A>T (p.Lys978Ter) c.*2646A>T (n.*2646A>T) c.2749A>T (p.Lys917Ter) c.*1232A>T (n.*1232A>T) c.*2756A>T (n.*2756A>T) c.2506A>T (p.Lys836Ter) c.523A>T (p.Lys175Ter) c.582A>T c.1714A>T (p.Lys572Ter) c.2842A>T (p.Lys948Ter) c.3022A>T (p.Lys1008Ter) c.2689A>T (p.Lys897Ter) | ClinVar dbSNP |
7 | g.117606698_117606699del | CA2695208424 | CFTR | c.2933_2934del (p.Lys978ArgfsTer7) c.*2647_*2648del (n.*2647_*2648del) c.2750_2751del (p.Lys917ArgfsTer7) c.*1233_*1234del (n.*1233_*1234del) c.*2757_*2758del (n.*2757_*2758del) c.2507_2508del (p.Lys836ArgfsTer7) c.524_525del (p.Lys175ArgfsTer7) c.583_584del c.1715_1716del (p.Lys572ArgfsTer7) c.2843_2844del (p.Lys948ArgfsTer7) c.3023_3024del (p.Lys1008ArgfsTer7) c.2690_2691del (p.Lys897ArgfsTer7) | |
7 | g.117606698A= | CA1737379542 | CFTR | c.2933A= (p.Lys978=) c.*2647A= (n.*2647A=) c.2750A= (p.Lys917=) c.*1233A= (n.*1233A=) c.*2757A= (n.*2757A=) c.2507A= (p.Lys836=) c.524A= (p.Lys175=) c.583A= c.1715A= (p.Lys572=) c.2843A= (p.Lys948=) c.3023A= (p.Lys1008=) c.2690A= (p.Lys897=) | |
7 | g.117606698A>C | CA368989024 | CFTR | c.2933A>C (p.Lys978Thr) c.*2647A>C (n.*2647A>C) c.2750A>C (p.Lys917Thr) c.*1233A>C (n.*1233A>C) c.*2757A>C (n.*2757A>C) c.2507A>C (p.Lys836Thr) c.524A>C (p.Lys175Thr) c.583A>C c.1715A>C (p.Lys572Thr) c.2843A>C (p.Lys948Thr) c.3023A>C (p.Lys1008Thr) c.2690A>C (p.Lys897Thr) | |
7 | g.117606698A>G | CA164962410 | CFTR | c.2933A>G (p.Lys978Arg) c.*2647A>G (n.*2647A>G) c.2750A>G (p.Lys917Arg) c.*1233A>G (n.*1233A>G) c.*2757A>G (n.*2757A>G) c.2507A>G (p.Lys836Arg) c.524A>G (p.Lys175Arg) c.583A>G c.1715A>G (p.Lys572Arg) c.2843A>G (p.Lys948Arg) c.3023A>G (p.Lys1008Arg) c.2690A>G (p.Lys897Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606698A>T | CA368989026 | CFTR | c.2933A>T (p.Lys978Ile) c.*2647A>T (n.*2647A>T) c.2750A>T (p.Lys917Ile) c.*1233A>T (n.*1233A>T) c.*2757A>T (n.*2757A>T) c.2507A>T (p.Lys836Ile) c.524A>T (p.Lys175Ile) c.583A>T c.1715A>T (p.Lys572Ile) c.2843A>T (p.Lys948Ile) c.3023A>T (p.Lys1008Ile) c.2690A>T (p.Lys897Ile) | |
7 | g.117606699A>C | CA368989029 | CFTR | c.2934A>C (p.Lys978Asn) c.*2648A>C (n.*2648A>C) c.2751A>C (p.Lys917Asn) c.*1234A>C (n.*1234A>C) c.*2758A>C (n.*2758A>C) c.2508A>C (p.Lys836Asn) c.525A>C (p.Lys175Asn) c.584A>C c.1716A>C (p.Lys572Asn) c.2844A>C (p.Lys948Asn) c.3024A>C (p.Lys1008Asn) c.2691A>C (p.Lys897Asn) | |
7 | g.117606699A>G | CA457228807 | CFTR | c.2934A>G (p.Lys978=) c.*2648A>G (n.*2648A>G) c.2751A>G (p.Lys917=) c.*1234A>G (n.*1234A>G) c.*2758A>G (n.*2758A>G) c.2508A>G (p.Lys836=) c.525A>G (p.Lys175=) c.584A>G c.1716A>G (p.Lys572=) c.2844A>G (p.Lys948=) c.3024A>G (p.Lys1008=) c.2691A>G (p.Lys897=) | ClinVar dbSNP |
7 | g.117606699A>T | CA368989030 | CFTR | c.2934A>T (p.Lys978Asn) c.*2648A>T (n.*2648A>T) c.2751A>T (p.Lys917Asn) c.*1234A>T (n.*1234A>T) c.*2758A>T (n.*2758A>T) c.2508A>T (p.Lys836Asn) c.525A>T (p.Lys175Asn) c.584A>T c.1716A>T (p.Lys572Asn) c.2844A>T (p.Lys948Asn) c.3024A>T (p.Lys1008Asn) c.2691A>T (p.Lys897Asn) | |
7 | g.117606700G>A | CA368989032 | CFTR | c.2935G>A (p.Asp979Asn) c.*2649G>A (n.*2649G>A) c.2752G>A (p.Asp918Asn) c.*1235G>A (n.*1235G>A) c.*2759G>A (n.*2759G>A) c.2509G>A (p.Asp837Asn) c.526G>A (p.Asp176Asn) c.585G>A c.1717G>A (p.Asp573Asn) c.2845G>A (p.Asp949Asn) c.3025G>A (p.Asp1009Asn) c.2692G>A (p.Asp898Asn) | COSMIC |
7 | g.117606700G>C | CA368989034 | CFTR | c.2935G>C (p.Asp979His) c.*2649G>C (n.*2649G>C) c.2752G>C (p.Asp918His) c.*1235G>C (n.*1235G>C) c.*2759G>C (n.*2759G>C) c.2509G>C (p.Asp837His) c.526G>C (p.Asp176His) c.585G>C c.1717G>C (p.Asp573His) c.2845G>C (p.Asp949His) c.3025G>C (p.Asp1009His) c.2692G>C (p.Asp898His) | |
7 | g.117606700G>T | CA368989036 | CFTR | c.2935G>T (p.Asp979Tyr) c.*2649G>T (n.*2649G>T) c.2752G>T (p.Asp918Tyr) c.*1235G>T (n.*1235G>T) c.*2759G>T (n.*2759G>T) c.2509G>T (p.Asp837Tyr) c.526G>T (p.Asp176Tyr) c.585G>T c.1717G>T (p.Asp573Tyr) c.2845G>T (p.Asp949Tyr) c.3025G>T (p.Asp1009Tyr) c.2692G>T (p.Asp898Tyr) | ClinVar |
7 | g.117606701A= | CA1737379555 | CFTR | c.2936A= (p.Asp979=) c.*2650A= (n.*2650A=) c.2753A= (p.Asp918=) c.*1236A= (n.*1236A=) c.*2760A= (n.*2760A=) c.2510A= (p.Asp837=) c.527A= (p.Asp176=) c.586A= c.1718A= (p.Asp573=) c.2846A= (p.Asp949=) c.3026A= (p.Asp1009=) c.2693A= (p.Asp898=) | |
7 | g.117606701A>C | CA326977 | CFTR | c.2936A>C (p.Asp979Ala) c.*2650A>C (n.*2650A>C) c.2753A>C (p.Asp918Ala) c.*1236A>C (n.*1236A>C) c.*2760A>C (n.*2760A>C) c.2510A>C (p.Asp837Ala) c.527A>C (p.Asp176Ala) c.586A>C c.1718A>C (p.Asp573Ala) c.2846A>C (p.Asp949Ala) c.3026A>C (p.Asp1009Ala) c.2693A>C (p.Asp898Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606701A>G | CA368989039 | CFTR | c.2936A>G (p.Asp979Gly) c.*2650A>G (n.*2650A>G) c.2753A>G (p.Asp918Gly) c.*1236A>G (n.*1236A>G) c.*2760A>G (n.*2760A>G) c.2510A>G (p.Asp837Gly) c.527A>G (p.Asp176Gly) c.586A>G c.1718A>G (p.Asp573Gly) c.2846A>G (p.Asp949Gly) c.3026A>G (p.Asp1009Gly) c.2693A>G (p.Asp898Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117606701A>T | CA326979 | CFTR | c.2936A>T (p.Asp979Val) c.*2650A>T (n.*2650A>T) c.2753A>T (p.Asp918Val) c.*1236A>T (n.*1236A>T) c.*2760A>T (n.*2760A>T) c.2510A>T (p.Asp837Val) c.527A>T (p.Asp176Val) c.586A>T c.1718A>T (p.Asp573Val) c.2846A>T (p.Asp949Val) c.3026A>T (p.Asp1009Val) c.2693A>T (p.Asp898Val) | ClinVar dbSNP |
7 | g.117606702T>A | CA368989044 | CFTR | c.2937T>A (p.Asp979Glu) c.*2651T>A (n.*2651T>A) c.2754T>A (p.Asp918Glu) c.*1237T>A (n.*1237T>A) c.*2761T>A (n.*2761T>A) c.2511T>A (p.Asp837Glu) c.528T>A (p.Asp176Glu) c.587T>A c.1719T>A (p.Asp573Glu) c.2847T>A (p.Asp949Glu) c.3027T>A (p.Asp1009Glu) c.2694T>A (p.Asp898Glu) | |
7 | g.117606702T>C | CA457228810 | CFTR | c.2937T>C (p.Asp979=) c.*2651T>C (n.*2651T>C) c.2754T>C (p.Asp918=) c.*1237T>C (n.*1237T>C) c.*2761T>C (n.*2761T>C) c.2511T>C (p.Asp837=) c.528T>C (p.Asp176=) c.587T>C c.1719T>C (p.Asp573=) c.2847T>C (p.Asp949=) c.3027T>C (p.Asp1009=) c.2694T>C (p.Asp898=) | ClinVar dbSNP |
7 | g.117606702T>G | CA368989045 | CFTR | c.2937T>G (p.Asp979Glu) c.*2651T>G (n.*2651T>G) c.2754T>G (p.Asp918Glu) c.*1237T>G (n.*1237T>G) c.*2761T>G (n.*2761T>G) c.2511T>G (p.Asp837Glu) c.528T>G (p.Asp176Glu) c.587T>G c.1719T>G (p.Asp573Glu) c.2847T>G (p.Asp949Glu) c.3027T>G (p.Asp1009Glu) c.2694T>G (p.Asp898Glu) | |
7 | g.117606702T= | CA1737379567 | CFTR | c.2937T= (p.Asp979=) c.*2651T= (n.*2651T=) c.2754T= (p.Asp918=) c.*1237T= (n.*1237T=) c.*2761T= (n.*2761T=) c.2511T= (p.Asp837=) c.528T= (p.Asp176=) c.587T= c.1719T= (p.Asp573=) c.2847T= (p.Asp949=) c.3027T= (p.Asp1009=) c.2694T= (p.Asp898=) | |
7 | g.117606703A= | CA1737379573 | CFTR | c.2938A= (p.Ile980=) c.*2652A= (n.*2652A=) c.2755A= (p.Ile919=) c.*1238A= (n.*1238A=) c.*2762A= (n.*2762A=) c.2512A= (p.Ile838=) c.529A= (p.Ile177=) c.588A= c.1720A= (p.Ile574=) c.2848A= (p.Ile950=) c.3028A= (p.Ile1010=) c.2695A= (p.Ile899=) | |
7 | g.117606703A>C | CA368989047 | CFTR | c.2938A>C (p.Ile980Leu) c.*2652A>C (n.*2652A>C) c.2755A>C (p.Ile919Leu) c.*1238A>C (n.*1238A>C) c.*2762A>C (n.*2762A>C) c.2512A>C (p.Ile838Leu) c.529A>C (p.Ile177Leu) c.588A>C c.1720A>C (p.Ile574Leu) c.2848A>C (p.Ile950Leu) c.3028A>C (p.Ile1010Leu) c.2695A>C (p.Ile899Leu) | |
7 | g.117606703A>G | CA368989049 | CFTR | c.2938A>G (p.Ile980Val) c.*2652A>G (n.*2652A>G) c.2755A>G (p.Ile919Val) c.*1238A>G (n.*1238A>G) c.*2762A>G (n.*2762A>G) c.2512A>G (p.Ile838Val) c.529A>G (p.Ile177Val) c.588A>G c.1720A>G (p.Ile574Val) c.2848A>G (p.Ile950Val) c.3028A>G (p.Ile1010Val) c.2695A>G (p.Ile899Val) | ClinVar dbSNP gnomAD v4 |
7 | g.117606703A>T | CA368989051 | CFTR | c.2938A>T (p.Ile980Leu) c.*2652A>T (n.*2652A>T) c.2755A>T (p.Ile919Leu) c.*1238A>T (n.*1238A>T) c.*2762A>T (n.*2762A>T) c.2512A>T (p.Ile838Leu) c.529A>T (p.Ile177Leu) c.588A>T c.1720A>T (p.Ile574Leu) c.2848A>T (p.Ile950Leu) c.3028A>T (p.Ile1010Leu) c.2695A>T (p.Ile899Leu) | |
7 | g.117606704T>A | CA326981 | CFTR | c.2939T>A (p.Ile980Lys) c.*2653T>A (n.*2653T>A) c.2756T>A (p.Ile919Lys) c.*1239T>A (n.*1239T>A) c.*2763T>A (n.*2763T>A) c.2513T>A (p.Ile838Lys) c.530T>A (p.Ile177Lys) c.589T>A c.1721T>A (p.Ile574Lys) c.2849T>A (p.Ile950Lys) c.3029T>A (p.Ile1010Lys) c.2696T>A (p.Ile899Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606704T>C | CA368989054 | CFTR | c.2939T>C (p.Ile980Thr) c.*2653T>C (n.*2653T>C) c.2756T>C (p.Ile919Thr) c.*1239T>C (n.*1239T>C) c.*2763T>C (n.*2763T>C) c.2513T>C (p.Ile838Thr) c.530T>C (p.Ile177Thr) c.589T>C c.1721T>C (p.Ile574Thr) c.2849T>C (p.Ile950Thr) c.3029T>C (p.Ile1010Thr) c.2696T>C (p.Ile899Thr) | dbSNP gnomAD v4 |
7 | g.117606704T>G | CA368989056 | CFTR | c.2939T>G (p.Ile980Arg) c.*2653T>G (n.*2653T>G) c.2756T>G (p.Ile919Arg) c.*1239T>G (n.*1239T>G) c.*2763T>G (n.*2763T>G) c.2513T>G (p.Ile838Arg) c.530T>G (p.Ile177Arg) c.589T>G c.1721T>G (p.Ile574Arg) c.2849T>G (p.Ile950Arg) c.3029T>G (p.Ile1010Arg) c.2696T>G (p.Ile899Arg) | |
7 | g.117606704T= | CA1737379580 | CFTR | c.2939T= (p.Ile980=) c.*2653T= (n.*2653T=) c.2756T= (p.Ile919=) c.*1239T= (n.*1239T=) c.*2763T= (n.*2763T=) c.2513T= (p.Ile838=) c.530T= (p.Ile177=) c.589T= c.1721T= (p.Ile574=) c.2849T= (p.Ile950=) c.3029T= (p.Ile1010=) c.2696T= (p.Ile899=) | |
7 | g.117606705A>C | CA457228813 | CFTR | c.2940A>C (p.Ile980=) c.*2654A>C (n.*2654A>C) c.2757A>C (p.Ile919=) c.*1240A>C (n.*1240A>C) c.*2764A>C (n.*2764A>C) c.2514A>C (p.Ile838=) c.531A>C (p.Ile177=) c.590A>C c.1722A>C (p.Ile574=) c.2850A>C (p.Ile950=) c.3030A>C (p.Ile1010=) c.2697A>C (p.Ile899=) | |
7 | g.117606705A>G | CA368989058 | CFTR | c.2940A>G (p.Ile980Met) c.*2654A>G (n.*2654A>G) c.2757A>G (p.Ile919Met) c.*1240A>G (n.*1240A>G) c.*2764A>G (n.*2764A>G) c.2514A>G (p.Ile838Met) c.531A>G (p.Ile177Met) c.590A>G c.1722A>G (p.Ile574Met) c.2850A>G (p.Ile950Met) c.3030A>G (p.Ile1010Met) c.2697A>G (p.Ile899Met) | gnomAD v4 |
7 | g.117606705A>T | CA457228812 | CFTR | c.2940A>T (p.Ile980=) c.*2654A>T (n.*2654A>T) c.2757A>T (p.Ile919=) c.*1240A>T (n.*1240A>T) c.*2764A>T (n.*2764A>T) c.2514A>T (p.Ile838=) c.531A>T (p.Ile177=) c.590A>T c.1722A>T (p.Ile574=) c.2850A>T (p.Ile950=) c.3030A>T (p.Ile1010=) c.2697A>T (p.Ile899=) | |
7 | g.117606706G>A | CA368989060 | CFTR | c.2941G>A (p.Ala981Thr) c.*2655G>A (n.*2655G>A) c.2758G>A (p.Ala920Thr) c.*1241G>A (n.*1241G>A) c.*2765G>A (n.*2765G>A) c.2515G>A (p.Ala839Thr) c.532G>A (p.Ala178Thr) c.591G>A c.1723G>A (p.Ala575Thr) c.2851G>A (p.Ala951Thr) c.3031G>A (p.Ala1011Thr) c.2698G>A (p.Ala900Thr) | dbSNP gnomAD v4 |
7 | g.117606706G>C | CA368989064 | CFTR | c.2941G>C (p.Ala981Pro) c.*2655G>C (n.*2655G>C) c.2758G>C (p.Ala920Pro) c.*1241G>C (n.*1241G>C) c.*2765G>C (n.*2765G>C) c.2515G>C (p.Ala839Pro) c.532G>C (p.Ala178Pro) c.591G>C c.1723G>C (p.Ala575Pro) c.2851G>C (p.Ala951Pro) c.3031G>C (p.Ala1011Pro) c.2698G>C (p.Ala900Pro) | |
7 | g.117606706G>T | CA368989066 | CFTR | c.2941G>T (p.Ala981Ser) c.*2655G>T (n.*2655G>T) c.2758G>T (p.Ala920Ser) c.*1241G>T (n.*1241G>T) c.*2765G>T (n.*2765G>T) c.2515G>T (p.Ala839Ser) c.532G>T (p.Ala178Ser) c.591G>T c.1723G>T (p.Ala575Ser) c.2851G>T (p.Ala951Ser) c.3031G>T (p.Ala1011Ser) c.2698G>T (p.Ala900Ser) | |
7 | g.117606707C>A | CA368989072 | CFTR | c.2942C>A (p.Ala981Glu) c.*2656C>A (n.*2656C>A) c.2759C>A (p.Ala920Glu) c.*1242C>A (n.*1242C>A) c.*2766C>A (n.*2766C>A) c.2516C>A (p.Ala839Glu) c.533C>A (p.Ala178Glu) c.592C>A c.1724C>A (p.Ala575Glu) c.2852C>A (p.Ala951Glu) c.3032C>A (p.Ala1011Glu) c.2699C>A (p.Ala900Glu) | ClinVar gnomAD v4 |
7 | g.117606707C>G | CA368989071 | CFTR | c.2942C>G (p.Ala981Gly) c.*2656C>G (n.*2656C>G) c.2759C>G (p.Ala920Gly) c.*1242C>G (n.*1242C>G) c.*2766C>G (n.*2766C>G) c.2516C>G (p.Ala839Gly) c.533C>G (p.Ala178Gly) c.592C>G c.1724C>G (p.Ala575Gly) c.2852C>G (p.Ala951Gly) c.3032C>G (p.Ala1011Gly) c.2699C>G (p.Ala900Gly) | |
7 | g.117606707C>T | CA368989069 | CFTR | c.2942C>T (p.Ala981Val) c.*2656C>T (n.*2656C>T) c.2759C>T (p.Ala920Val) c.*1242C>T (n.*1242C>T) c.*2766C>T (n.*2766C>T) c.2516C>T (p.Ala839Val) c.533C>T (p.Ala178Val) c.592C>T c.1724C>T (p.Ala575Val) c.2852C>T (p.Ala951Val) c.3032C>T (p.Ala1011Val) c.2699C>T (p.Ala900Val) | |
7 | g.117606708A= | CA1737379585 | CFTR | c.2943A= (p.Ala981=) c.*2657A= (n.*2657A=) c.2760A= (p.Ala920=) c.*1243A= (n.*1243A=) c.*2767A= (n.*2767A=) c.2517A= (p.Ala839=) c.534A= (p.Ala178=) c.593A= c.1725A= (p.Ala575=) c.2853A= (p.Ala951=) c.3033A= (p.Ala1011=) c.2700A= (p.Ala900=) | |
7 | g.117606708A>C | CA457228815 | CFTR | c.2943A>C (p.Ala981=) c.*2657A>C (n.*2657A>C) c.2760A>C (p.Ala920=) c.*1243A>C (n.*1243A>C) c.*2767A>C (n.*2767A>C) c.2517A>C (p.Ala839=) c.534A>C (p.Ala178=) c.593A>C c.1725A>C (p.Ala575=) c.2853A>C (p.Ala951=) c.3033A>C (p.Ala1011=) c.2700A>C (p.Ala900=) | |
7 | g.117606708A>G | CA164962447 | CFTR | c.2943A>G (p.Ala981=) c.*2657A>G (n.*2657A>G) c.2760A>G (p.Ala920=) c.*1243A>G (n.*1243A>G) c.*2767A>G (n.*2767A>G) c.2517A>G (p.Ala839=) c.534A>G (p.Ala178=) c.593A>G c.1725A>G (p.Ala575=) c.2853A>G (p.Ala951=) c.3033A>G (p.Ala1011=) c.2700A>G (p.Ala900=) | dbSNP |
7 | g.117606708A>T | CA457228816 | CFTR | c.2943A>T (p.Ala981=) c.*2657A>T (n.*2657A>T) c.2760A>T (p.Ala920=) c.*1243A>T (n.*1243A>T) c.*2767A>T (n.*2767A>T) c.2517A>T (p.Ala839=) c.534A>T (p.Ala178=) c.593A>T c.1725A>T (p.Ala575=) c.2853A>T (p.Ala951=) c.3033A>T (p.Ala1011=) c.2700A>T (p.Ala900=) | |
7 | g.117606709A= | CA1737379588 | CFTR | c.2944A= (p.Ile982=) c.*2658A= (n.*2658A=) c.2761A= (p.Ile921=) c.*1244A= (n.*1244A=) c.*2768A= (n.*2768A=) c.2518A= (p.Ile840=) c.535A= (p.Ile179=) c.594A= c.1726A= (p.Ile576=) c.2854A= (p.Ile952=) c.3034A= (p.Ile1012=) c.2701A= (p.Ile901=) | |
7 | g.117606709A>C | CA368989076 | CFTR | c.2944A>C (p.Ile982Leu) c.*2658A>C (n.*2658A>C) c.2761A>C (p.Ile921Leu) c.*1244A>C (n.*1244A>C) c.*2768A>C (n.*2768A>C) c.2518A>C (p.Ile840Leu) c.535A>C (p.Ile179Leu) c.594A>C c.1726A>C (p.Ile576Leu) c.2854A>C (p.Ile952Leu) c.3034A>C (p.Ile1012Leu) c.2701A>C (p.Ile901Leu) | |
7 | g.117606709A>G | CA368989079 | CFTR | c.2944A>G (p.Ile982Val) c.*2658A>G (n.*2658A>G) c.2761A>G (p.Ile921Val) c.*1244A>G (n.*1244A>G) c.*2768A>G (n.*2768A>G) c.2518A>G (p.Ile840Val) c.535A>G (p.Ile179Val) c.594A>G c.1726A>G (p.Ile576Val) c.2854A>G (p.Ile952Val) c.3034A>G (p.Ile1012Val) c.2701A>G (p.Ile901Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117606709A>T | CA368989080 | CFTR | c.2944A>T (p.Ile982Phe) c.*2658A>T (n.*2658A>T) c.2761A>T (p.Ile921Phe) c.*1244A>T (n.*1244A>T) c.*2768A>T (n.*2768A>T) c.2518A>T (p.Ile840Phe) c.535A>T (p.Ile179Phe) c.594A>T c.1726A>T (p.Ile576Phe) c.2854A>T (p.Ile952Phe) c.3034A>T (p.Ile1012Phe) c.2701A>T (p.Ile901Phe) | |
7 | g.117606710T>A | CA368989082 | CFTR | c.2945T>A (p.Ile982Asn) c.*2659T>A (n.*2659T>A) c.2762T>A (p.Ile921Asn) c.*1245T>A (n.*1245T>A) c.*2769T>A (n.*2769T>A) c.2519T>A (p.Ile840Asn) c.536T>A (p.Ile179Asn) c.595T>A c.1727T>A (p.Ile576Asn) c.2855T>A (p.Ile952Asn) c.3035T>A (p.Ile1012Asn) c.2702T>A (p.Ile901Asn) | |
7 | g.117606710T>C | CA368989084 | CFTR | c.2945T>C (p.Ile982Thr) c.*2659T>C (n.*2659T>C) c.2762T>C (p.Ile921Thr) c.*1245T>C (n.*1245T>C) c.*2769T>C (n.*2769T>C) c.2519T>C (p.Ile840Thr) c.536T>C (p.Ile179Thr) c.595T>C c.1727T>C (p.Ile576Thr) c.2855T>C (p.Ile952Thr) c.3035T>C (p.Ile1012Thr) c.2702T>C (p.Ile901Thr) | |
7 | g.117606710T>G | CA368989085 | CFTR | c.2945T>G (p.Ile982Ser) c.*2659T>G (n.*2659T>G) c.2762T>G (p.Ile921Ser) c.*1245T>G (n.*1245T>G) c.*2769T>G (n.*2769T>G) c.2519T>G (p.Ile840Ser) c.536T>G (p.Ile179Ser) c.595T>G c.1727T>G (p.Ile576Ser) c.2855T>G (p.Ile952Ser) c.3035T>G (p.Ile1012Ser) c.2702T>G (p.Ile901Ser) | |
7 | g.117606713del | CA2580076406 | CFTR | c.2948del (p.Leu983TrpfsTer17) c.*2662del (n.*2662del) c.2765del (p.Leu922TrpfsTer17) c.*1248del (n.*1248del) c.*2772del (n.*2772del) c.2522del (p.Leu841TrpfsTer17) c.539del (p.Leu180TrpfsTer17) c.598del c.1730del (p.Leu577TrpfsTer17) c.2858del (p.Leu953TrpfsTer17) c.3038del (p.Leu1013TrpfsTer17) c.2705del (p.Leu902TrpfsTer17) | ClinVar gnomAD v4 |
7 | g.117606712_117606713del | CA2695208425 | CFTR | c.2947_2948del (p.Leu983GlyfsTer2) c.*2661_*2662del (n.*2661_*2662del) c.2764_2765del (p.Leu922GlyfsTer2) c.*1247_*1248del (n.*1247_*1248del) c.*2771_*2772del (n.*2771_*2772del) c.2521_2522del (p.Leu841GlyfsTer2) c.538_539del (p.Leu180GlyfsTer2) c.597_598del c.1729_1730del (p.Leu577GlyfsTer2) c.2857_2858del (p.Leu953GlyfsTer2) c.3037_3038del (p.Leu1013GlyfsTer2) c.2704_2705del (p.Leu902GlyfsTer2) | |
7 | g.117606711T>A | CA457228820 | CFTR | c.2946T>A (p.Ile982=) c.*2660T>A (n.*2660T>A) c.2763T>A (p.Ile921=) c.*1246T>A (n.*1246T>A) c.*2770T>A (n.*2770T>A) c.2520T>A (p.Ile840=) c.537T>A (p.Ile179=) c.596T>A c.1728T>A (p.Ile576=) c.2856T>A (p.Ile952=) c.3036T>A (p.Ile1012=) c.2703T>A (p.Ile901=) | |
7 | g.117606711T>C | CA457228821 | CFTR | c.2946T>C (p.Ile982=) c.*2660T>C (n.*2660T>C) c.2763T>C (p.Ile921=) c.*1246T>C (n.*1246T>C) c.*2770T>C (n.*2770T>C) c.2520T>C (p.Ile840=) c.537T>C (p.Ile179=) c.596T>C c.1728T>C (p.Ile576=) c.2856T>C (p.Ile952=) c.3036T>C (p.Ile1012=) c.2703T>C (p.Ile901=) | |
7 | g.117606711T>G | CA164962463 | CFTR | c.2946T>G (p.Ile982Met) c.*2660T>G (n.*2660T>G) c.2763T>G (p.Ile921Met) c.*1246T>G (n.*1246T>G) c.*2770T>G (n.*2770T>G) c.2520T>G (p.Ile840Met) c.537T>G (p.Ile179Met) c.596T>G c.1728T>G (p.Ile576Met) c.2856T>G (p.Ile952Met) c.3036T>G (p.Ile1012Met) c.2703T>G (p.Ile901Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117606711T= | CA1737379595 | CFTR | c.2946T= (p.Ile982=) c.*2660T= (n.*2660T=) c.2763T= (p.Ile921=) c.*1246T= (n.*1246T=) c.*2770T= (n.*2770T=) c.2520T= (p.Ile840=) c.537T= (p.Ile179=) c.596T= c.1728T= (p.Ile576=) c.2856T= (p.Ile952=) c.3036T= (p.Ile1012=) c.2703T= (p.Ile901=) | |
7 | g.117606712T>A | CA368989088 | CFTR | c.2947T>A (p.Leu983Met) c.*2661T>A (n.*2661T>A) c.2764T>A (p.Leu922Met) c.*1247T>A (n.*1247T>A) c.*2771T>A (n.*2771T>A) c.2521T>A (p.Leu841Met) c.538T>A (p.Leu180Met) c.597T>A c.1729T>A (p.Leu577Met) c.2857T>A (p.Leu953Met) c.3037T>A (p.Leu1013Met) c.2704T>A (p.Leu902Met) | |
7 | g.117606712T>C | CA457228822 | CFTR | c.2947T>C (p.Leu983=) c.*2661T>C (n.*2661T>C) c.2764T>C (p.Leu922=) c.*1247T>C (n.*1247T>C) c.*2771T>C (n.*2771T>C) c.2521T>C (p.Leu841=) c.538T>C (p.Leu180=) c.597T>C c.1729T>C (p.Leu577=) c.2857T>C (p.Leu953=) c.3037T>C (p.Leu1013=) c.2704T>C (p.Leu902=) | |
7 | g.117606712T>G | CA368989089 | CFTR | c.2947T>G (p.Leu983Val) c.*2661T>G (n.*2661T>G) c.2764T>G (p.Leu922Val) c.*1247T>G (n.*1247T>G) c.*2771T>G (n.*2771T>G) c.2521T>G (p.Leu841Val) c.538T>G (p.Leu180Val) c.597T>G c.1729T>G (p.Leu577Val) c.2857T>G (p.Leu953Val) c.3037T>G (p.Leu1013Val) c.2704T>G (p.Leu902Val) | |
7 | g.117606713T>A | CA368989091 | CFTR | c.2948T>A (p.Leu983Ter) c.*2662T>A (n.*2662T>A) c.2765T>A (p.Leu922Ter) c.*1248T>A (n.*1248T>A) c.*2772T>A (n.*2772T>A) c.2522T>A (p.Leu841Ter) c.539T>A (p.Leu180Ter) c.598T>A c.1730T>A (p.Leu577Ter) c.2858T>A (p.Leu953Ter) c.3038T>A (p.Leu1013Ter) c.2705T>A (p.Leu902Ter) | |
7 | g.117606713T>C | CA368989093 | CFTR | c.2948T>C (p.Leu983Ser) c.*2662T>C (n.*2662T>C) c.2765T>C (p.Leu922Ser) c.*1248T>C (n.*1248T>C) c.*2772T>C (n.*2772T>C) c.2522T>C (p.Leu841Ser) c.539T>C (p.Leu180Ser) c.598T>C c.1730T>C (p.Leu577Ser) c.2858T>C (p.Leu953Ser) c.3038T>C (p.Leu1013Ser) c.2705T>C (p.Leu902Ser) | |
7 | g.117606713T>G | CA368989095 | CFTR | c.2948T>G (p.Leu983Trp) c.*2662T>G (n.*2662T>G) c.2765T>G (p.Leu922Trp) c.*1248T>G (n.*1248T>G) c.*2772T>G (n.*2772T>G) c.2522T>G (p.Leu841Trp) c.539T>G (p.Leu180Trp) c.598T>G c.1730T>G (p.Leu577Trp) c.2858T>G (p.Leu953Trp) c.3038T>G (p.Leu1013Trp) c.2705T>G (p.Leu902Trp) | gnomAD v4 |
7 | g.117606714G>A | CA457228823 | CFTR | c.2949G>A (p.Leu983=) c.*2663G>A (n.*2663G>A) c.2766G>A (p.Leu922=) c.*1249G>A (n.*1249G>A) c.*2773G>A (n.*2773G>A) c.2523G>A (p.Leu841=) c.540G>A (p.Leu180=) c.599G>A c.1731G>A (p.Leu577=) c.2859G>A (p.Leu953=) c.3039G>A (p.Leu1013=) c.2706G>A (p.Leu902=) | |
7 | g.117606714G>C | CA368989099 | CFTR | c.2949G>C (p.Leu983Phe) c.*2663G>C (n.*2663G>C) c.2766G>C (p.Leu922Phe) c.*1249G>C (n.*1249G>C) c.*2773G>C (n.*2773G>C) c.2523G>C (p.Leu841Phe) c.540G>C (p.Leu180Phe) c.599G>C c.1731G>C (p.Leu577Phe) c.2859G>C (p.Leu953Phe) c.3039G>C (p.Leu1013Phe) c.2706G>C (p.Leu902Phe) | |
7 | g.117606714G= | CA1737379605 | CFTR | c.2949G= (p.Leu983=) c.*2663G= (n.*2663G=) c.2766G= (p.Leu922=) c.*1249G= (n.*1249G=) c.*2773G= (n.*2773G=) c.2523G= (p.Leu841=) c.540G= (p.Leu180=) c.599G= c.1731G= (p.Leu577=) c.2859G= (p.Leu953=) c.3039G= (p.Leu1013=) c.2706G= (p.Leu902=) | |
7 | g.117606714G>T | CA164962466 | CFTR | c.2949G>T (p.Leu983Phe) c.*2663G>T (n.*2663G>T) c.2766G>T (p.Leu922Phe) c.*1249G>T (n.*1249G>T) c.*2773G>T (n.*2773G>T) c.2523G>T (p.Leu841Phe) c.540G>T (p.Leu180Phe) c.599G>T c.1731G>T (p.Leu577Phe) c.2859G>T (p.Leu953Phe) c.3039G>T (p.Leu1013Phe) c.2706G>T (p.Leu902Phe) | dbSNP gnomAD v4 |
7 | g.117606715G>A | CA4451333 | CFTR | c.2950G>A (p.Asp984Asn) c.*2664G>A (n.*2664G>A) c.2767G>A (p.Asp923Asn) c.*1250G>A (n.*1250G>A) c.*2774G>A (n.*2774G>A) c.2524G>A (p.Asp842Asn) c.541G>A (p.Asp181Asn) c.600G>A c.1732G>A (p.Asp578Asn) c.2860G>A (p.Asp954Asn) c.3040G>A (p.Asp1014Asn) c.2707G>A (p.Asp903Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117606715G>C | CA368989102 | CFTR | c.2950G>C (p.Asp984His) c.*2664G>C (n.*2664G>C) c.2767G>C (p.Asp923His) c.*1250G>C (n.*1250G>C) c.*2774G>C (n.*2774G>C) c.2524G>C (p.Asp842His) c.541G>C (p.Asp181His) c.600G>C c.1732G>C (p.Asp578His) c.2860G>C (p.Asp954His) c.3040G>C (p.Asp1014His) c.2707G>C (p.Asp903His) | dbSNP |
7 | g.117606715G= | CA1737379609 | CFTR | c.2950G= (p.Asp984=) c.*2664G= (n.*2664G=) c.2767G= (p.Asp923=) c.*1250G= (n.*1250G=) c.*2774G= (n.*2774G=) c.2524G= (p.Asp842=) c.541G= (p.Asp181=) c.600G= c.1732G= (p.Asp578=) c.2860G= (p.Asp954=) c.3040G= (p.Asp1014=) c.2707G= (p.Asp903=) | |
7 | g.117606715G>T | CA368989103 | CFTR | c.2950G>T (p.Asp984Tyr) c.*2664G>T (n.*2664G>T) c.2767G>T (p.Asp923Tyr) c.*1250G>T (n.*1250G>T) c.*2774G>T (n.*2774G>T) c.2524G>T (p.Asp842Tyr) c.541G>T (p.Asp181Tyr) c.600G>T c.1732G>T (p.Asp578Tyr) c.2860G>T (p.Asp954Tyr) c.3040G>T (p.Asp1014Tyr) c.2707G>T (p.Asp903Tyr) | gnomAD v4 |
7 | g.117606716A= | CA1737379614 | CFTR | c.2951A= (p.Asp984=) c.*2665A= (n.*2665A=) c.2768A= (p.Asp923=) c.*1251A= (n.*1251A=) c.*2775A= (n.*2775A=) c.2525A= (p.Asp842=) c.542A= (p.Asp181=) c.601A= c.1733A= (p.Asp578=) c.2861A= (p.Asp954=) c.3041A= (p.Asp1014=) c.2708A= (p.Asp903=) | |
7 | g.117606716A>C | CA368989106 | CFTR | c.2951A>C (p.Asp984Ala) c.*2665A>C (n.*2665A>C) c.2768A>C (p.Asp923Ala) c.*1251A>C (n.*1251A>C) c.*2775A>C (n.*2775A>C) c.2525A>C (p.Asp842Ala) c.542A>C (p.Asp181Ala) c.601A>C c.1733A>C (p.Asp578Ala) c.2861A>C (p.Asp954Ala) c.3041A>C (p.Asp1014Ala) c.2708A>C (p.Asp903Ala) | |
7 | g.117606716A>G | CA368989108 | CFTR | c.2951A>G (p.Asp984Gly) c.*2665A>G (n.*2665A>G) c.2768A>G (p.Asp923Gly) c.*1251A>G (n.*1251A>G) c.*2775A>G (n.*2775A>G) c.2525A>G (p.Asp842Gly) c.542A>G (p.Asp181Gly) c.601A>G c.1733A>G (p.Asp578Gly) c.2861A>G (p.Asp954Gly) c.3041A>G (p.Asp1014Gly) c.2708A>G (p.Asp903Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117606716A>T | CA368989109 | CFTR | c.2951A>T (p.Asp984Val) c.*2665A>T (n.*2665A>T) c.2768A>T (p.Asp923Val) c.*1251A>T (n.*1251A>T) c.*2775A>T (n.*2775A>T) c.2525A>T (p.Asp842Val) c.542A>T (p.Asp181Val) c.601A>T c.1733A>T (p.Asp578Val) c.2861A>T (p.Asp954Val) c.3041A>T (p.Asp1014Val) c.2708A>T (p.Asp903Val) | ClinVar gnomAD v4 |
7 | g.117606717T>A | CA368989111 | CFTR | c.2952T>A (p.Asp984Glu) c.*2666T>A (n.*2666T>A) c.2769T>A (p.Asp923Glu) c.*1252T>A (n.*1252T>A) c.*2776T>A (n.*2776T>A) c.2526T>A (p.Asp842Glu) c.543T>A (p.Asp181Glu) c.602T>A c.1734T>A (p.Asp578Glu) c.2862T>A (p.Asp954Glu) c.3042T>A (p.Asp1014Glu) c.2709T>A (p.Asp903Glu) | |
7 | g.117606717T>C | CA457228826 | CFTR | c.2952T>C (p.Asp984=) c.*2666T>C (n.*2666T>C) c.2769T>C (p.Asp923=) c.*1252T>C (n.*1252T>C) c.*2776T>C (n.*2776T>C) c.2526T>C (p.Asp842=) c.543T>C (p.Asp181=) c.602T>C c.1734T>C (p.Asp578=) c.2862T>C (p.Asp954=) c.3042T>C (p.Asp1014=) c.2709T>C (p.Asp903=) | gnomAD v4 |
7 | g.117606717T>G | CA368989113 | CFTR | c.2952T>G (p.Asp984Glu) c.*2666T>G (n.*2666T>G) c.2769T>G (p.Asp923Glu) c.*1252T>G (n.*1252T>G) c.*2776T>G (n.*2776T>G) c.2526T>G (p.Asp842Glu) c.543T>G (p.Asp181Glu) c.602T>G c.1734T>G (p.Asp578Glu) c.2862T>G (p.Asp954Glu) c.3042T>G (p.Asp1014Glu) c.2709T>G (p.Asp903Glu) | |
7 | g.117606718G>A | CA4451334 | CFTR | c.2953G>A (p.Asp985Asn) c.*2667G>A (n.*2667G>A) c.2770G>A (p.Asp924Asn) c.*1253G>A (n.*1253G>A) c.*2777G>A (n.*2777G>A) c.2527G>A (p.Asp843Asn) c.544G>A (p.Asp182Asn) c.603G>A c.1735G>A (p.Asp579Asn) c.2863G>A (p.Asp955Asn) c.3043G>A (p.Asp1015Asn) c.2710G>A (p.Asp904Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117606718G>C | CA326986 | CFTR | c.2953G>C (p.Asp985His) c.*2667G>C (n.*2667G>C) c.2770G>C (p.Asp924His) c.*1253G>C (n.*1253G>C) c.*2777G>C (n.*2777G>C) c.2527G>C (p.Asp843His) c.544G>C (p.Asp182His) c.603G>C c.1735G>C (p.Asp579His) c.2863G>C (p.Asp955His) c.3043G>C (p.Asp1015His) c.2710G>C (p.Asp904His) | dbSNP |
7 | g.117606718G= | CA1737379625 | CFTR | c.2953G= (p.Asp985=) c.*2667G= (n.*2667G=) c.2770G= (p.Asp924=) c.*1253G= (n.*1253G=) c.*2777G= (n.*2777G=) c.2527G= (p.Asp843=) c.544G= (p.Asp182=) c.603G= c.1735G= (p.Asp579=) c.2863G= (p.Asp955=) c.3043G= (p.Asp1015=) c.2710G= (p.Asp904=) | |
7 | g.117606718G>T | CA326988 | CFTR | c.2953G>T (p.Asp985Tyr) c.*2667G>T (n.*2667G>T) c.2770G>T (p.Asp924Tyr) c.*1253G>T (n.*1253G>T) c.*2777G>T (n.*2777G>T) c.2527G>T (p.Asp843Tyr) c.544G>T (p.Asp182Tyr) c.603G>T c.1735G>T (p.Asp579Tyr) c.2863G>T (p.Asp955Tyr) c.3043G>T (p.Asp1015Tyr) c.2710G>T (p.Asp904Tyr) | dbSNP gnomAD v4 |
7 | g.117606719del | CA2695208426 | CFTR | c.2954del (p.Asp985AlafsTer15) c.*2668del (n.*2668del) c.2771del (p.Asp924AlafsTer15) c.*1254del (n.*1254del) c.*2778del (n.*2778del) c.2528del (p.Asp843AlafsTer15) c.545del (p.Asp182AlafsTer15) c.604del c.1736del (p.Asp579AlafsTer15) c.2864del (p.Asp955AlafsTer15) c.3044del (p.Asp1015AlafsTer15) c.2711del (p.Asp904AlafsTer15) | |
7 | g.117606719A>C | CA368989117 | CFTR | c.2954A>C (p.Asp985Ala) c.*2668A>C (n.*2668A>C) c.2771A>C (p.Asp924Ala) c.*1254A>C (n.*1254A>C) c.*2778A>C (n.*2778A>C) c.2528A>C (p.Asp843Ala) c.545A>C (p.Asp182Ala) c.604A>C c.1736A>C (p.Asp579Ala) c.2864A>C (p.Asp955Ala) c.3044A>C (p.Asp1015Ala) c.2711A>C (p.Asp904Ala) | |
7 | g.117606719A>G | CA368989119 | CFTR | c.2954A>G (p.Asp985Gly) c.*2668A>G (n.*2668A>G) c.2771A>G (p.Asp924Gly) c.*1254A>G (n.*1254A>G) c.*2778A>G (n.*2778A>G) c.2528A>G (p.Asp843Gly) c.545A>G (p.Asp182Gly) c.604A>G c.1736A>G (p.Asp579Gly) c.2864A>G (p.Asp955Gly) c.3044A>G (p.Asp1015Gly) c.2711A>G (p.Asp904Gly) | gnomAD v4 |
7 | g.117606719A>T | CA368989121 | CFTR | c.2954A>T (p.Asp985Val) c.*2668A>T (n.*2668A>T) c.2771A>T (p.Asp924Val) c.*1254A>T (n.*1254A>T) c.*2778A>T (n.*2778A>T) c.2528A>T (p.Asp843Val) c.545A>T (p.Asp182Val) c.604A>T c.1736A>T (p.Asp579Val) c.2864A>T (p.Asp955Val) c.3044A>T (p.Asp1015Val) c.2711A>T (p.Asp904Val) | |
7 | g.117606720C>A | CA4451335 | CFTR | c.2955C>A (p.Asp985Glu) c.*2669C>A (n.*2669C>A) c.2772C>A (p.Asp924Glu) c.*1255C>A (n.*1255C>A) c.*2779C>A (n.*2779C>A) c.2529C>A (p.Asp843Glu) c.546C>A (p.Asp182Glu) c.605C>A c.1737C>A (p.Asp579Glu) c.2865C>A (p.Asp955Glu) c.3045C>A (p.Asp1015Glu) c.2712C>A (p.Asp904Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117606720C= | CA1737379636 | CFTR | c.2955C= (p.Asp985=) c.*2669C= (n.*2669C=) c.2772C= (p.Asp924=) c.*1255C= (n.*1255C=) c.*2779C= (n.*2779C=) c.2529C= (p.Asp843=) c.546C= (p.Asp182=) c.605C= c.1737C= (p.Asp579=) c.2865C= (p.Asp955=) c.3045C= (p.Asp1015=) c.2712C= (p.Asp904=) | |
7 | g.117606720C>G | CA368989123 | CFTR | c.2955C>G (p.Asp985Glu) c.*2669C>G (n.*2669C>G) c.2772C>G (p.Asp924Glu) c.*1255C>G (n.*1255C>G) c.*2779C>G (n.*2779C>G) c.2529C>G (p.Asp843Glu) c.546C>G (p.Asp182Glu) c.605C>G c.1737C>G (p.Asp579Glu) c.2865C>G (p.Asp955Glu) c.3045C>G (p.Asp1015Glu) c.2712C>G (p.Asp904Glu) | |
7 | g.117606720C>T | CA457228828 | CFTR | c.2955C>T (p.Asp985=) c.*2669C>T (n.*2669C>T) c.2772C>T (p.Asp924=) c.*1255C>T (n.*1255C>T) c.*2779C>T (n.*2779C>T) c.2529C>T (p.Asp843=) c.546C>T (p.Asp182=) c.605C>T c.1737C>T (p.Asp579=) c.2865C>T (p.Asp955=) c.3045C>T (p.Asp1015=) c.2712C>T (p.Asp904=) | ClinVar COSMIC |
7 | g.117606721del | CA2573141581 | CFTR | c.2956del (p.Leu986PhefsTer14) c.*2670del (n.*2670del) c.2773del (p.Leu925PhefsTer14) c.*1256del (n.*1256del) c.*2780del (n.*2780del) c.2530del (p.Leu844PhefsTer14) c.547del (p.Leu183PhefsTer14) c.606del c.1738del (p.Leu580PhefsTer14) c.2866del (p.Leu956PhefsTer14) c.3046del (p.Leu1016PhefsTer14) c.2713del (p.Leu905PhefsTer14) | ClinVar dbSNP |
7 | g.117606723_117606729del | CA2695208427 | CFTR | c.2958_2964del (p.Leu989TyrfsTer9) c.*2672_*2678del (n.*2672_*2678del) c.2775_2781del (p.Leu928TyrfsTer9) c.*1258_*1264del (n.*1258_*1264del) c.*2782_*2788del (n.*2782_*2788del) c.2532_2538del (p.Leu847TyrfsTer9) c.549_555del (p.Leu186TyrfsTer9) c.608_614del c.1740_1746del (p.Leu583TyrfsTer9) c.2868_2874del (p.Leu959TyrfsTer9) c.3048_3054del (p.Leu1019TyrfsTer9) c.2715_2721del (p.Leu908TyrfsTer9) | |
7 | g.117606721C>A | CA368989126 | CFTR | c.2956C>A (p.Leu986Ile) c.*2670C>A (n.*2670C>A) c.2773C>A (p.Leu925Ile) c.*1256C>A (n.*1256C>A) c.*2780C>A (n.*2780C>A) c.2530C>A (p.Leu844Ile) c.547C>A (p.Leu183Ile) c.606C>A c.1738C>A (p.Leu580Ile) c.2866C>A (p.Leu956Ile) c.3046C>A (p.Leu1016Ile) c.2713C>A (p.Leu905Ile) | gnomAD v4 |
7 | g.117606721C>G | CA368989130 | CFTR | c.2956C>G (p.Leu986Val) c.*2670C>G (n.*2670C>G) c.2773C>G (p.Leu925Val) c.*1256C>G (n.*1256C>G) c.*2780C>G (n.*2780C>G) c.2530C>G (p.Leu844Val) c.547C>G (p.Leu183Val) c.606C>G c.1738C>G (p.Leu580Val) c.2866C>G (p.Leu956Val) c.3046C>G (p.Leu1016Val) c.2713C>G (p.Leu905Val) | |
7 | g.117606721C>T | CA368989127 | CFTR | c.2956C>T (p.Leu986Phe) c.*2670C>T (n.*2670C>T) c.2773C>T (p.Leu925Phe) c.*1256C>T (n.*1256C>T) c.*2780C>T (n.*2780C>T) c.2530C>T (p.Leu844Phe) c.547C>T (p.Leu183Phe) c.606C>T c.1738C>T (p.Leu580Phe) c.2866C>T (p.Leu956Phe) c.3046C>T (p.Leu1016Phe) c.2713C>T (p.Leu905Phe) | |
7 | g.117606722T>A | CA368989132 | CFTR | c.2957T>A (p.Leu986His) c.*2671T>A (n.*2671T>A) c.2774T>A (p.Leu925His) c.*1257T>A (n.*1257T>A) c.*2781T>A (n.*2781T>A) c.2531T>A (p.Leu844His) c.548T>A (p.Leu183His) c.607T>A c.1739T>A (p.Leu580His) c.2867T>A (p.Leu956His) c.3047T>A (p.Leu1016His) c.2714T>A (p.Leu905His) | |
7 | g.117606722T>C | CA4451336 | CFTR | c.2957T>C (p.Leu986Pro) c.*2671T>C (n.*2671T>C) c.2774T>C (p.Leu925Pro) c.*1257T>C (n.*1257T>C) c.*2781T>C (n.*2781T>C) c.2531T>C (p.Leu844Pro) c.548T>C (p.Leu183Pro) c.607T>C c.1739T>C (p.Leu580Pro) c.2867T>C (p.Leu956Pro) c.3047T>C (p.Leu1016Pro) c.2714T>C (p.Leu905Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606722T>G | CA368989134 | CFTR | c.2957T>G (p.Leu986Arg) c.*2671T>G (n.*2671T>G) c.2774T>G (p.Leu925Arg) c.*1257T>G (n.*1257T>G) c.*2781T>G (n.*2781T>G) c.2531T>G (p.Leu844Arg) c.548T>G (p.Leu183Arg) c.607T>G c.1739T>G (p.Leu580Arg) c.2867T>G (p.Leu956Arg) c.3047T>G (p.Leu1016Arg) c.2714T>G (p.Leu905Arg) | |
7 | g.117606722T= | CA1737379641 | CFTR | c.2957T= (p.Leu986=) c.*2671T= (n.*2671T=) c.2774T= (p.Leu925=) c.*1257T= (n.*1257T=) c.*2781T= (n.*2781T=) c.2531T= (p.Leu844=) c.548T= (p.Leu183=) c.607T= c.1739T= (p.Leu580=) c.2867T= (p.Leu956=) c.3047T= (p.Leu1016=) c.2714T= (p.Leu905=) | |
7 | g.117606723del | CA2697557583 | CFTR | c.2958del (p.Leu987CysfsTer13) c.*2672del (n.*2672del) c.2775del (p.Leu926CysfsTer13) c.*1258del (n.*1258del) c.*2782del (n.*2782del) c.2532del (p.Leu845CysfsTer13) c.549del (p.Leu184CysfsTer13) c.608del c.1740del (p.Leu581CysfsTer13) c.2868del (p.Leu957CysfsTer13) c.3048del (p.Leu1017CysfsTer13) c.2715del (p.Leu906CysfsTer13) | ClinVar |
7 | g.117606723T>A | CA457228833 | CFTR | c.2958T>A (p.Leu986=) c.*2672T>A (n.*2672T>A) c.2775T>A (p.Leu925=) c.*1258T>A (n.*1258T>A) c.*2782T>A (n.*2782T>A) c.2532T>A (p.Leu844=) c.549T>A (p.Leu183=) c.608T>A c.1740T>A (p.Leu580=) c.2868T>A (p.Leu956=) c.3048T>A (p.Leu1016=) c.2715T>A (p.Leu905=) | |
7 | g.117606723T>C | CA457228832 | CFTR | c.2958T>C (p.Leu986=) c.*2672T>C (n.*2672T>C) c.2775T>C (p.Leu925=) c.*1258T>C (n.*1258T>C) c.*2782T>C (n.*2782T>C) c.2532T>C (p.Leu844=) c.549T>C (p.Leu183=) c.608T>C c.1740T>C (p.Leu580=) c.2868T>C (p.Leu956=) c.3048T>C (p.Leu1016=) c.2715T>C (p.Leu905=) | |
7 | g.117606723T>G | CA457228831 | CFTR | c.2958T>G (p.Leu986=) c.*2672T>G (n.*2672T>G) c.2775T>G (p.Leu925=) c.*1258T>G (n.*1258T>G) c.*2782T>G (n.*2782T>G) c.2532T>G (p.Leu844=) c.549T>G (p.Leu183=) c.608T>G c.1740T>G (p.Leu580=) c.2868T>G (p.Leu956=) c.3048T>G (p.Leu1016=) c.2715T>G (p.Leu905=) | |
7 | g.117606724_117606725dup | CA2573141584 | CFTR | c.2959_2960dup (p.Pro988CysfsTer13) c.*2673_*2674dup (n.*2673_*2674dup) c.2776_2777dup (p.Pro927CysfsTer13) c.*1259_*1260dup (n.*1259_*1260dup) c.*2783_*2784dup (n.*2783_*2784dup) c.2533_2534dup (p.Pro846CysfsTer13) c.550_551dup (p.Pro185CysfsTer13) c.609_610dup c.1741_1742dup (p.Pro582CysfsTer13) c.2869_2870dup (p.Pro958CysfsTer13) c.3049_3050dup (p.Pro1018CysfsTer13) c.2716_2717dup (p.Pro907CysfsTer13) | ClinVar dbSNP |
7 | g.117606723_117606726del | CA2695208428 | CFTR | c.2958_2961del (p.Pro988LeufsTer11) c.*2672_*2675del (n.*2672_*2675del) c.2775_2778del (p.Pro927LeufsTer11) c.*1258_*1261del (n.*1258_*1261del) c.*2782_*2785del (n.*2782_*2785del) c.2532_2535del (p.Pro846LeufsTer11) c.549_552del (p.Pro185LeufsTer11) c.608_611del c.1740_1743del (p.Pro582LeufsTer11) c.2868_2871del (p.Pro958LeufsTer11) c.3048_3051del (p.Pro1018LeufsTer11) c.2715_2718del (p.Pro907LeufsTer11) | |
7 | g.117606724C>A | CA368989137 | CFTR | c.2959C>A (p.Leu987Met) c.*2673C>A (n.*2673C>A) c.2776C>A (p.Leu926Met) c.*1259C>A (n.*1259C>A) c.*2783C>A (n.*2783C>A) c.2533C>A (p.Leu845Met) c.550C>A (p.Leu184Met) c.609C>A c.1741C>A (p.Leu581Met) c.2869C>A (p.Leu957Met) c.3049C>A (p.Leu1017Met) c.2716C>A (p.Leu906Met) | gnomAD v4 |
7 | g.117606724C= | CA1737379649 | CFTR | c.2959C= (p.Leu987=) c.*2673C= (n.*2673C=) c.2776C= (p.Leu926=) c.*1259C= (n.*1259C=) c.*2783C= (n.*2783C=) c.2533C= (p.Leu845=) c.550C= (p.Leu184=) c.609C= c.1741C= (p.Leu581=) c.2869C= (p.Leu957=) c.3049C= (p.Leu1017=) c.2716C= (p.Leu906=) | |
7 | g.117606724C>G | CA368989138 | CFTR | c.2959C>G (p.Leu987Val) c.*2673C>G (n.*2673C>G) c.2776C>G (p.Leu926Val) c.*1259C>G (n.*1259C>G) c.*2783C>G (n.*2783C>G) c.2533C>G (p.Leu845Val) c.550C>G (p.Leu184Val) c.609C>G c.1741C>G (p.Leu581Val) c.2869C>G (p.Leu957Val) c.3049C>G (p.Leu1017Val) c.2716C>G (p.Leu906Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117606724C>T | CA457228836 | CFTR | c.2959C>T (p.Leu987=) c.*2673C>T (n.*2673C>T) c.2776C>T (p.Leu926=) c.*1259C>T (n.*1259C>T) c.*2783C>T (n.*2783C>T) c.2533C>T (p.Leu845=) c.550C>T (p.Leu184=) c.609C>T c.1741C>T (p.Leu581=) c.2869C>T (p.Leu957=) c.3049C>T (p.Leu1017=) c.2716C>T (p.Leu906=) | |
7 | g.117606725T>A | CA368989141 | CFTR | c.2960T>A (p.Leu987Gln) c.*2674T>A (n.*2674T>A) c.2777T>A (p.Leu926Gln) c.*1260T>A (n.*1260T>A) c.*2784T>A (n.*2784T>A) c.2534T>A (p.Leu845Gln) c.551T>A (p.Leu184Gln) c.610T>A c.1742T>A (p.Leu581Gln) c.2870T>A (p.Leu957Gln) c.3050T>A (p.Leu1017Gln) c.2717T>A (p.Leu906Gln) | |
7 | g.117606725T>C | CA368989143 | CFTR | c.2960T>C (p.Leu987Pro) c.*2674T>C (n.*2674T>C) c.2777T>C (p.Leu926Pro) c.*1260T>C (n.*1260T>C) c.*2784T>C (n.*2784T>C) c.2534T>C (p.Leu845Pro) c.551T>C (p.Leu184Pro) c.610T>C c.1742T>C (p.Leu581Pro) c.2870T>C (p.Leu957Pro) c.3050T>C (p.Leu1017Pro) c.2717T>C (p.Leu906Pro) | gnomAD v4 |
7 | g.117606725T>G | CA368989144 | CFTR | c.2960T>G (p.Leu987Arg) c.*2674T>G (n.*2674T>G) c.2777T>G (p.Leu926Arg) c.*1260T>G (n.*1260T>G) c.*2784T>G (n.*2784T>G) c.2534T>G (p.Leu845Arg) c.551T>G (p.Leu184Arg) c.610T>G c.1742T>G (p.Leu581Arg) c.2870T>G (p.Leu957Arg) c.3050T>G (p.Leu1017Arg) c.2717T>G (p.Leu906Arg) | |
7 | g.117606726G>A | CA457228837 | CFTR | c.2961G>A (p.Leu987=) c.*2675G>A (n.*2675G>A) c.2778G>A (p.Leu926=) c.*1261G>A (n.*1261G>A) c.*2785G>A (n.*2785G>A) c.2535G>A (p.Leu845=) c.552G>A (p.Leu184=) c.611G>A c.1743G>A (p.Leu581=) c.2871G>A (p.Leu957=) c.3051G>A (p.Leu1017=) c.2718G>A (p.Leu906=) | |
7 | g.117606726G>C | CA457228839 | CFTR | c.2961G>C (p.Leu987=) c.*2675G>C (n.*2675G>C) c.2778G>C (p.Leu926=) c.*1261G>C (n.*1261G>C) c.*2785G>C (n.*2785G>C) c.2535G>C (p.Leu845=) c.552G>C (p.Leu184=) c.611G>C c.1743G>C (p.Leu581=) c.2871G>C (p.Leu957=) c.3051G>C (p.Leu1017=) c.2718G>C (p.Leu906=) | |
7 | g.117606726G>T | CA457228838 | CFTR | c.2961G>T (p.Leu987=) c.*2675G>T (n.*2675G>T) c.2778G>T (p.Leu926=) c.*1261G>T (n.*1261G>T) c.*2785G>T (n.*2785G>T) c.2535G>T (p.Leu845=) c.552G>T (p.Leu184=) c.611G>T c.1743G>T (p.Leu581=) c.2871G>T (p.Leu957=) c.3051G>T (p.Leu1017=) c.2718G>T (p.Leu906=) | gnomAD v4 |
7 | g.117606727C>A | CA368989150 | CFTR | c.2962C>A (p.Pro988Thr) c.*2676C>A (n.*2676C>A) c.2779C>A (p.Pro927Thr) c.*1262C>A (n.*1262C>A) c.*2786C>A (n.*2786C>A) c.2536C>A (p.Pro846Thr) c.553C>A (p.Pro185Thr) c.612C>A c.1744C>A (p.Pro582Thr) c.2872C>A (p.Pro958Thr) c.3052C>A (p.Pro1018Thr) c.2719C>A (p.Pro907Thr) | gnomAD v4 |
7 | g.117606727C>G | CA368989149 | CFTR | c.2962C>G (p.Pro988Ala) c.*2676C>G (n.*2676C>G) c.2779C>G (p.Pro927Ala) c.*1262C>G (n.*1262C>G) c.*2786C>G (n.*2786C>G) c.2536C>G (p.Pro846Ala) c.553C>G (p.Pro185Ala) c.612C>G c.1744C>G (p.Pro582Ala) c.2872C>G (p.Pro958Ala) c.3052C>G (p.Pro1018Ala) c.2719C>G (p.Pro907Ala) | |
7 | g.117606727C>T | CA368989147 | CFTR | c.2962C>T (p.Pro988Ser) c.*2676C>T (n.*2676C>T) c.2779C>T (p.Pro927Ser) c.*1262C>T (n.*1262C>T) c.*2786C>T (n.*2786C>T) c.2536C>T (p.Pro846Ser) c.553C>T (p.Pro185Ser) c.612C>T c.1744C>T (p.Pro582Ser) c.2872C>T (p.Pro958Ser) c.3052C>T (p.Pro1018Ser) c.2719C>T (p.Pro907Ser) | gnomAD v3 gnomAD v4 |
7 | g.117606728C>A | CA368989153 | CFTR | c.2963C>A (p.Pro988His) c.*2677C>A (n.*2677C>A) c.2780C>A (p.Pro927His) c.*1263C>A (n.*1263C>A) c.*2787C>A (n.*2787C>A) c.2537C>A (p.Pro846His) c.554C>A (p.Pro185His) c.613C>A c.1745C>A (p.Pro582His) c.2873C>A (p.Pro958His) c.3053C>A (p.Pro1018His) c.2720C>A (p.Pro907His) | gnomAD v4 |
7 | g.117606728C= | CA1737379661 | CFTR | c.2963C= (p.Pro988=) c.*2677C= (n.*2677C=) c.2780C= (p.Pro927=) c.*1263C= (n.*1263C=) c.*2787C= (n.*2787C=) c.2537C= (p.Pro846=) c.554C= (p.Pro185=) c.613C= c.1745C= (p.Pro582=) c.2873C= (p.Pro958=) c.3053C= (p.Pro1018=) c.2720C= (p.Pro907=) | |
7 | g.117606728C>G | CA368989155 | CFTR | c.2963C>G (p.Pro988Arg) c.*2677C>G (n.*2677C>G) c.2780C>G (p.Pro927Arg) c.*1263C>G (n.*1263C>G) c.*2787C>G (n.*2787C>G) c.2537C>G (p.Pro846Arg) c.554C>G (p.Pro185Arg) c.613C>G c.1745C>G (p.Pro582Arg) c.2873C>G (p.Pro958Arg) c.3053C>G (p.Pro1018Arg) c.2720C>G (p.Pro907Arg) | |
7 | g.117606728C>T | CA368989157 | CFTR | c.2963C>T (p.Pro988Leu) c.*2677C>T (n.*2677C>T) c.2780C>T (p.Pro927Leu) c.*1263C>T (n.*1263C>T) c.*2787C>T (n.*2787C>T) c.2537C>T (p.Pro846Leu) c.554C>T (p.Pro185Leu) c.613C>T c.1745C>T (p.Pro582Leu) c.2873C>T (p.Pro958Leu) c.3053C>T (p.Pro1018Leu) c.2720C>T (p.Pro907Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.117606729T>A | CA457228843 | CFTR | c.2964T>A (p.Pro988=) c.*2678T>A (n.*2678T>A) c.2781T>A (p.Pro927=) c.*1264T>A (n.*1264T>A) c.*2788T>A (n.*2788T>A) c.2538T>A (p.Pro846=) c.555T>A (p.Pro185=) c.614T>A c.1746T>A (p.Pro582=) c.2874T>A (p.Pro958=) c.3054T>A (p.Pro1018=) c.2721T>A (p.Pro907=) | gnomAD v4 |
7 | g.117606729T>C | CA457228844 | CFTR | c.2964T>C (p.Pro988=) c.*2678T>C (n.*2678T>C) c.2781T>C (p.Pro927=) c.*1264T>C (n.*1264T>C) c.*2788T>C (n.*2788T>C) c.2538T>C (p.Pro846=) c.555T>C (p.Pro185=) c.614T>C c.1746T>C (p.Pro582=) c.2874T>C (p.Pro958=) c.3054T>C (p.Pro1018=) c.2721T>C (p.Pro907=) | |
7 | g.117606729T>G | CA457228845 | CFTR | c.2964T>G (p.Pro988=) c.*2678T>G (n.*2678T>G) c.2781T>G (p.Pro927=) c.*1264T>G (n.*1264T>G) c.*2788T>G (n.*2788T>G) c.2538T>G (p.Pro846=) c.555T>G (p.Pro185=) c.614T>G c.1746T>G (p.Pro582=) c.2874T>G (p.Pro958=) c.3054T>G (p.Pro1018=) c.2721T>G (p.Pro907=) | |
7 | g.117606730C>A | CA368989159 | CFTR | c.2965C>A (p.Leu989Ile) c.*2679C>A (n.*2679C>A) c.2782C>A (p.Leu928Ile) c.*1265C>A (n.*1265C>A) c.*2789C>A (n.*2789C>A) c.2539C>A (p.Leu847Ile) c.556C>A (p.Leu186Ile) c.615C>A c.1747C>A (p.Leu583Ile) c.2875C>A (p.Leu959Ile) c.3055C>A (p.Leu1019Ile) c.2722C>A (p.Leu908Ile) | |
7 | g.117606730C>G | CA368989161 | CFTR | c.2965C>G (p.Leu989Val) c.*2679C>G (n.*2679C>G) c.2782C>G (p.Leu928Val) c.*1265C>G (n.*1265C>G) c.*2789C>G (n.*2789C>G) c.2539C>G (p.Leu847Val) c.556C>G (p.Leu186Val) c.615C>G c.1747C>G (p.Leu583Val) c.2875C>G (p.Leu959Val) c.3055C>G (p.Leu1019Val) c.2722C>G (p.Leu908Val) | |
7 | g.117606730C>T | CA368989163 | CFTR | c.2965C>T (p.Leu989Phe) c.*2679C>T (n.*2679C>T) c.2782C>T (p.Leu928Phe) c.*1265C>T (n.*1265C>T) c.*2789C>T (n.*2789C>T) c.2539C>T (p.Leu847Phe) c.556C>T (p.Leu186Phe) c.615C>T c.1747C>T (p.Leu583Phe) c.2875C>T (p.Leu959Phe) c.3055C>T (p.Leu1019Phe) c.2722C>T (p.Leu908Phe) | |
7 | g.117606731T>A | CA368989169 | CFTR | c.2966T>A (p.Leu989His) c.*2680T>A (n.*2680T>A) c.2783T>A (p.Leu928His) c.*1266T>A (n.*1266T>A) c.*2790T>A (n.*2790T>A) c.2540T>A (p.Leu847His) c.557T>A (p.Leu186His) c.616T>A c.1748T>A (p.Leu583His) c.2876T>A (p.Leu959His) c.3056T>A (p.Leu1019His) c.2723T>A (p.Leu908His) | |
7 | g.117606731T>C | CA368989165 | CFTR | c.2966T>C (p.Leu989Pro) c.*2680T>C (n.*2680T>C) c.2783T>C (p.Leu928Pro) c.*1266T>C (n.*1266T>C) c.*2790T>C (n.*2790T>C) c.2540T>C (p.Leu847Pro) c.557T>C (p.Leu186Pro) c.616T>C c.1748T>C (p.Leu583Pro) c.2876T>C (p.Leu959Pro) c.3056T>C (p.Leu1019Pro) c.2723T>C (p.Leu908Pro) | gnomAD v4 |
7 | g.117606731T>G | CA368989167 | CFTR | c.2966T>G (p.Leu989Arg) c.*2680T>G (n.*2680T>G) c.2783T>G (p.Leu928Arg) c.*1266T>G (n.*1266T>G) c.*2790T>G (n.*2790T>G) c.2540T>G (p.Leu847Arg) c.557T>G (p.Leu186Arg) c.616T>G c.1748T>G (p.Leu583Arg) c.2876T>G (p.Leu959Arg) c.3056T>G (p.Leu1019Arg) c.2723T>G (p.Leu908Arg) | COSMIC |
7 | g.117606732del | CA2684588064 | CFTR | c.2967del (p.Thr990ProfsTer10) c.*2681del (n.*2681del) c.2784del (p.Thr929ProfsTer10) c.*1267del (n.*1267del) c.*2791del (n.*2791del) c.2541del (p.Thr848ProfsTer10) c.558del (p.Thr187ProfsTer10) c.617del c.1749del (p.Thr584ProfsTer10) c.2877del (p.Thr960ProfsTer10) c.3057del (p.Thr1020ProfsTer10) c.2724del (p.Thr909ProfsTer10) | gnomAD v4 |
7 | g.117606732T>A | CA457228848 | CFTR | c.2967T>A (p.Leu989=) c.*2681T>A (n.*2681T>A) c.2784T>A (p.Leu928=) c.*1267T>A (n.*1267T>A) c.*2791T>A (n.*2791T>A) c.2541T>A (p.Leu847=) c.558T>A (p.Leu186=) c.617T>A c.1749T>A (p.Leu583=) c.2877T>A (p.Leu959=) c.3057T>A (p.Leu1019=) c.2724T>A (p.Leu908=) | gnomAD v4 |
7 | g.117606732T>C | CA457228850 | CFTR | c.2967T>C (p.Leu989=) c.*2681T>C (n.*2681T>C) c.2784T>C (p.Leu928=) c.*1267T>C (n.*1267T>C) c.*2791T>C (n.*2791T>C) c.2541T>C (p.Leu847=) c.558T>C (p.Leu186=) c.617T>C c.1749T>C (p.Leu583=) c.2877T>C (p.Leu959=) c.3057T>C (p.Leu1019=) c.2724T>C (p.Leu908=) | |
7 | g.117606732T>G | CA457228849 | CFTR | c.2967T>G (p.Leu989=) c.*2681T>G (n.*2681T>G) c.2784T>G (p.Leu928=) c.*1267T>G (n.*1267T>G) c.*2791T>G (n.*2791T>G) c.2541T>G (p.Leu847=) c.558T>G (p.Leu186=) c.617T>G c.1749T>G (p.Leu583=) c.2877T>G (p.Leu959=) c.3057T>G (p.Leu1019=) c.2724T>G (p.Leu908=) | |
7 | g.117606732T= | CA1737379667 | CFTR | c.2967T= (p.Leu989=) c.*2681T= (n.*2681T=) c.2784T= (p.Leu928=) c.*1267T= (n.*1267T=) c.*2791T= (n.*2791T=) c.2541T= (p.Leu847=) c.558T= (p.Leu186=) c.617T= c.1749T= (p.Leu583=) c.2877T= (p.Leu959=) c.3057T= (p.Leu1019=) c.2724T= (p.Leu908=) | |
7 | g.117606733A= | CA1737379674 | CFTR | c.2968A= (p.Thr990=) c.*2682A= (n.*2682A=) c.2785A= (p.Thr929=) c.*1268A= (n.*1268A=) c.*2792A= (n.*2792A=) c.2542A= (p.Thr848=) c.559A= (p.Thr187=) c.618A= c.1750A= (p.Thr584=) c.2878A= (p.Thr960=) c.3058A= (p.Thr1020=) c.2725A= (p.Thr909=) | |
7 | g.117606733A>C | CA368989171 | CFTR | c.2968A>C (p.Thr990Pro) c.*2682A>C (n.*2682A>C) c.2785A>C (p.Thr929Pro) c.*1268A>C (n.*1268A>C) c.*2792A>C (n.*2792A>C) c.2542A>C (p.Thr848Pro) c.559A>C (p.Thr187Pro) c.618A>C c.1750A>C (p.Thr584Pro) c.2878A>C (p.Thr960Pro) c.3058A>C (p.Thr1020Pro) c.2725A>C (p.Thr909Pro) | |
7 | g.117606733A>G | CA368989172 | CFTR | c.2968A>G (p.Thr990Ala) c.*2682A>G (n.*2682A>G) c.2785A>G (p.Thr929Ala) c.*1268A>G (n.*1268A>G) c.*2792A>G (n.*2792A>G) c.2542A>G (p.Thr848Ala) c.559A>G (p.Thr187Ala) c.618A>G c.1750A>G (p.Thr584Ala) c.2878A>G (p.Thr960Ala) c.3058A>G (p.Thr1020Ala) c.2725A>G (p.Thr909Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117606733A>T | CA368989174 | CFTR | c.2968A>T (p.Thr990Ser) c.*2682A>T (n.*2682A>T) c.2785A>T (p.Thr929Ser) c.*1268A>T (n.*1268A>T) c.*2792A>T (n.*2792A>T) c.2542A>T (p.Thr848Ser) c.559A>T (p.Thr187Ser) c.618A>T c.1750A>T (p.Thr584Ser) c.2878A>T (p.Thr960Ser) c.3058A>T (p.Thr1020Ser) c.2725A>T (p.Thr909Ser) | |
7 | g.117606733dup | CA326990 | CFTR | c.2968dup (p.Thr990AsnfsTer4) c.*2682dup (n.*2682dup) c.2785dup (p.Thr929AsnfsTer4) c.*1268dup (n.*1268dup) c.*2792dup (n.*2792dup) c.2542dup (p.Thr848AsnfsTer4) c.559dup (p.Thr187AsnfsTer4) c.618dup c.1750dup (p.Thr584AsnfsTer4) c.2878dup (p.Thr960AsnfsTer4) c.3058dup (p.Thr1020AsnfsTer4) c.2725dup (p.Thr909AsnfsTer4) | dbSNP |
7 | g.117606734C>A | CA4451338 | CFTR | c.2969C>A (p.Thr990Asn) c.*2683C>A (n.*2683C>A) c.2786C>A (p.Thr929Asn) c.*1269C>A (n.*1269C>A) c.*2793C>A (n.*2793C>A) c.2543C>A (p.Thr848Asn) c.560C>A (p.Thr187Asn) c.619C>A c.1751C>A (p.Thr584Asn) c.2879C>A (p.Thr960Asn) c.3059C>A (p.Thr1020Asn) c.2726C>A (p.Thr909Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117606734C= | CA1737379683 | CFTR | c.2969C= (p.Thr990=) c.*2683C= (n.*2683C=) c.2786C= (p.Thr929=) c.*1269C= (n.*1269C=) c.*2793C= (n.*2793C=) c.2543C= (p.Thr848=) c.560C= (p.Thr187=) c.619C= c.1751C= (p.Thr584=) c.2879C= (p.Thr960=) c.3059C= (p.Thr1020=) c.2726C= (p.Thr909=) | |
7 | g.117606734C>G | CA4451337 | CFTR | c.2969C>G (p.Thr990Ser) c.*2683C>G (n.*2683C>G) c.2786C>G (p.Thr929Ser) c.*1269C>G (n.*1269C>G) c.*2793C>G (n.*2793C>G) c.2543C>G (p.Thr848Ser) c.560C>G (p.Thr187Ser) c.619C>G c.1751C>G (p.Thr584Ser) c.2879C>G (p.Thr960Ser) c.3059C>G (p.Thr1020Ser) c.2726C>G (p.Thr909Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.117606734C>T | CA368989176 | CFTR | c.2969C>T (p.Thr990Ile) c.*2683C>T (n.*2683C>T) c.2786C>T (p.Thr929Ile) c.*1269C>T (n.*1269C>T) c.*2793C>T (n.*2793C>T) c.2543C>T (p.Thr848Ile) c.560C>T (p.Thr187Ile) c.619C>T c.1751C>T (p.Thr584Ile) c.2879C>T (p.Thr960Ile) c.3059C>T (p.Thr1020Ile) c.2726C>T (p.Thr909Ile) | |
7 | g.117606735del | CA2579000331 | CFTR | c.2970del (p.Ile991TyrfsTer9) c.*2684del (n.*2684del) c.2787del (p.Ile930TyrfsTer9) c.*1270del (n.*1270del) c.*2794del (n.*2794del) c.2544del (p.Ile849TyrfsTer9) c.561del (p.Ile188TyrfsTer9) c.620del c.1752del (p.Ile585TyrfsTer9) c.2880del (p.Ile961TyrfsTer9) c.3060del (p.Ile1021TyrfsTer9) c.2727del (p.Ile910TyrfsTer9) | gnomAD v4 |
7 | g.117606735C>A | CA457228852 | CFTR | c.2970C>A (p.Thr990=) c.*2684C>A (n.*2684C>A) c.2787C>A (p.Thr929=) c.*1270C>A (n.*1270C>A) c.*2794C>A (n.*2794C>A) c.2544C>A (p.Thr848=) c.561C>A (p.Thr187=) c.620C>A c.1752C>A (p.Thr584=) c.2880C>A (p.Thr960=) c.3060C>A (p.Thr1020=) c.2727C>A (p.Thr909=) | gnomAD v4 |
7 | g.117606735C>G | CA457228853 | CFTR | c.2970C>G (p.Thr990=) c.*2684C>G (n.*2684C>G) c.2787C>G (p.Thr929=) c.*1270C>G (n.*1270C>G) c.*2794C>G (n.*2794C>G) c.2544C>G (p.Thr848=) c.561C>G (p.Thr187=) c.620C>G c.1752C>G (p.Thr584=) c.2880C>G (p.Thr960=) c.3060C>G (p.Thr1020=) c.2727C>G (p.Thr909=) | |
7 | g.117606735C>T | CA457228854 | CFTR | c.2970C>T (p.Thr990=) c.*2684C>T (n.*2684C>T) c.2787C>T (p.Thr929=) c.*1270C>T (n.*1270C>T) c.*2794C>T (n.*2794C>T) c.2544C>T (p.Thr848=) c.561C>T (p.Thr187=) c.620C>T c.1752C>T (p.Thr584=) c.2880C>T (p.Thr960=) c.3060C>T (p.Thr1020=) c.2727C>T (p.Thr909=) | ClinVar COSMIC |
7 | g.117606736A= | CA1737379689 | CFTR | c.2971A= (p.Ile991=) c.*2685A= (n.*2685A=) c.2788A= (p.Ile930=) c.*1271A= (n.*1271A=) c.*2795A= (n.*2795A=) c.2545A= (p.Ile849=) c.562A= (p.Ile188=) c.621A= c.1753A= (p.Ile585=) c.2881A= (p.Ile961=) c.3061A= (p.Ile1021=) c.2728A= (p.Ile910=) | |
7 | g.117606736A>C | CA368989179 | CFTR | c.2971A>C (p.Ile991Leu) c.*2685A>C (n.*2685A>C) c.2788A>C (p.Ile930Leu) c.*1271A>C (n.*1271A>C) c.*2795A>C (n.*2795A>C) c.2545A>C (p.Ile849Leu) c.562A>C (p.Ile188Leu) c.621A>C c.1753A>C (p.Ile585Leu) c.2881A>C (p.Ile961Leu) c.3061A>C (p.Ile1021Leu) c.2728A>C (p.Ile910Leu) | |
7 | g.117606736A>G | CA4451339 | CFTR | c.2971A>G (p.Ile991Val) c.*2685A>G (n.*2685A>G) c.2788A>G (p.Ile930Val) c.*1271A>G (n.*1271A>G) c.*2795A>G (n.*2795A>G) c.2545A>G (p.Ile849Val) c.562A>G (p.Ile188Val) c.621A>G c.1753A>G (p.Ile585Val) c.2881A>G (p.Ile961Val) c.3061A>G (p.Ile1021Val) c.2728A>G (p.Ile910Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117606736A>T | CA368989182 | CFTR | c.2971A>T (p.Ile991Leu) c.*2685A>T (n.*2685A>T) c.2788A>T (p.Ile930Leu) c.*1271A>T (n.*1271A>T) c.*2795A>T (n.*2795A>T) c.2545A>T (p.Ile849Leu) c.562A>T (p.Ile188Leu) c.621A>T c.1753A>T (p.Ile585Leu) c.2881A>T (p.Ile961Leu) c.3061A>T (p.Ile1021Leu) c.2728A>T (p.Ile910Leu) | |
7 | g.117606737T>A | CA368989184 | CFTR | c.2972T>A (p.Ile991Lys) c.*2686T>A (n.*2686T>A) c.2789T>A (p.Ile930Lys) c.*1272T>A (n.*1272T>A) c.*2796T>A (n.*2796T>A) c.2546T>A (p.Ile849Lys) c.563T>A (p.Ile188Lys) c.622T>A c.1754T>A (p.Ile585Lys) c.2882T>A (p.Ile961Lys) c.3062T>A (p.Ile1021Lys) c.2729T>A (p.Ile910Lys) | gnomAD v4 |
7 | g.117606737T>C | CA368989186 | CFTR | c.2972T>C (p.Ile991Thr) c.*2686T>C (n.*2686T>C) c.2789T>C (p.Ile930Thr) c.*1272T>C (n.*1272T>C) c.*2796T>C (n.*2796T>C) c.2546T>C (p.Ile849Thr) c.563T>C (p.Ile188Thr) c.622T>C c.1754T>C (p.Ile585Thr) c.2882T>C (p.Ile961Thr) c.3062T>C (p.Ile1021Thr) c.2729T>C (p.Ile910Thr) | |
7 | g.117606737T>G | CA368989187 | CFTR | c.2972T>G (p.Ile991Arg) c.*2686T>G (n.*2686T>G) c.2789T>G (p.Ile930Arg) c.*1272T>G (n.*1272T>G) c.*2796T>G (n.*2796T>G) c.2546T>G (p.Ile849Arg) c.563T>G (p.Ile188Arg) c.622T>G c.1754T>G (p.Ile585Arg) c.2882T>G (p.Ile961Arg) c.3062T>G (p.Ile1021Arg) c.2729T>G (p.Ile910Arg) | |
7 | g.117606738A= | CA1737379695 | CFTR | c.2973A= (p.Ile991=) c.*2687A= (n.*2687A=) c.2790A= (p.Ile930=) c.*1273A= (n.*1273A=) c.*2797A= (n.*2797A=) c.2547A= (p.Ile849=) c.564A= (p.Ile188=) c.623A= c.1755A= (p.Ile585=) c.2883A= (p.Ile961=) c.3063A= (p.Ile1021=) c.2730A= (p.Ile910=) | |
7 | g.117606738A>C | CA457228856 | CFTR | c.2973A>C (p.Ile991=) c.*2687A>C (n.*2687A>C) c.2790A>C (p.Ile930=) c.*1273A>C (n.*1273A>C) c.*2797A>C (n.*2797A>C) c.2547A>C (p.Ile849=) c.564A>C (p.Ile188=) c.623A>C c.1755A>C (p.Ile585=) c.2883A>C (p.Ile961=) c.3063A>C (p.Ile1021=) c.2730A>C (p.Ile910=) | |
7 | g.117606738A>G | CA4451340 | CFTR | c.2973A>G (p.Ile991Met) c.*2687A>G (n.*2687A>G) c.2790A>G (p.Ile930Met) c.*1273A>G (n.*1273A>G) c.*2797A>G (n.*2797A>G) c.2547A>G (p.Ile849Met) c.564A>G (p.Ile188Met) c.623A>G c.1755A>G (p.Ile585Met) c.2883A>G (p.Ile961Met) c.3063A>G (p.Ile1021Met) c.2730A>G (p.Ile910Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606738A>T | CA457228857 | CFTR | c.2973A>T (p.Ile991=) c.*2687A>T (n.*2687A>T) c.2790A>T (p.Ile930=) c.*1273A>T (n.*1273A>T) c.*2797A>T (n.*2797A>T) c.2547A>T (p.Ile849=) c.564A>T (p.Ile188=) c.623A>T c.1755A>T (p.Ile585=) c.2883A>T (p.Ile961=) c.3063A>T (p.Ile1021=) c.2730A>T (p.Ile910=) | |
7 | g.117606739T>A | CA368989193 | CFTR | c.2974T>A (p.Phe992Ile) c.*2688T>A (n.*2688T>A) c.2791T>A (p.Phe931Ile) c.*1274T>A (n.*1274T>A) c.*2798T>A (n.*2798T>A) c.2548T>A (p.Phe850Ile) c.565T>A (p.Phe189Ile) c.624T>A c.1756T>A (p.Phe586Ile) c.2884T>A (p.Phe962Ile) c.3064T>A (p.Phe1022Ile) c.2731T>A (p.Phe911Ile) | |
7 | g.117606739T>C | CA368989190 | CFTR | c.2974T>C (p.Phe992Leu) c.*2688T>C (n.*2688T>C) c.2791T>C (p.Phe931Leu) c.*1274T>C (n.*1274T>C) c.*2798T>C (n.*2798T>C) c.2548T>C (p.Phe850Leu) c.565T>C (p.Phe189Leu) c.624T>C c.1756T>C (p.Phe586Leu) c.2884T>C (p.Phe962Leu) c.3064T>C (p.Phe1022Leu) c.2731T>C (p.Phe911Leu) | ClinVar dbSNP |
7 | g.117606739T>G | CA164962532 | CFTR | c.2974T>G (p.Phe992Val) c.*2688T>G (n.*2688T>G) c.2791T>G (p.Phe931Val) c.*1274T>G (n.*1274T>G) c.*2798T>G (n.*2798T>G) c.2548T>G (p.Phe850Val) c.565T>G (p.Phe189Val) c.624T>G c.1756T>G (p.Phe586Val) c.2884T>G (p.Phe962Val) c.3064T>G (p.Phe1022Val) c.2731T>G (p.Phe911Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117606739T= | CA1737379707 | CFTR | c.2974T= (p.Phe992=) c.*2688T= (n.*2688T=) c.2791T= (p.Phe931=) c.*1274T= (n.*1274T=) c.*2798T= (n.*2798T=) c.2548T= (p.Phe850=) c.565T= (p.Phe189=) c.624T= c.1756T= (p.Phe586=) c.2884T= (p.Phe962=) c.3064T= (p.Phe1022=) c.2731T= (p.Phe911=) | |
7 | g.117606740T>A | CA368989194 | CFTR | c.2975T>A (p.Phe992Tyr) c.*2689T>A (n.*2689T>A) c.2792T>A (p.Phe931Tyr) c.*1275T>A (n.*1275T>A) c.*2799T>A (n.*2799T>A) c.2549T>A (p.Phe850Tyr) c.566T>A (p.Phe189Tyr) c.625T>A c.1757T>A (p.Phe586Tyr) c.2885T>A (p.Phe962Tyr) c.3065T>A (p.Phe1022Tyr) c.2732T>A (p.Phe911Tyr) | |
7 | g.117606740T>C | CA368989196 | CFTR | c.2975T>C (p.Phe992Ser) c.*2689T>C (n.*2689T>C) c.2792T>C (p.Phe931Ser) c.*1275T>C (n.*1275T>C) c.*2799T>C (n.*2799T>C) c.2549T>C (p.Phe850Ser) c.566T>C (p.Phe189Ser) c.625T>C c.1757T>C (p.Phe586Ser) c.2885T>C (p.Phe962Ser) c.3065T>C (p.Phe1022Ser) c.2732T>C (p.Phe911Ser) | gnomAD v4 COSMIC |
7 | g.117606740T>G | CA368989198 | CFTR | c.2975T>G (p.Phe992Cys) c.*2689T>G (n.*2689T>G) c.2792T>G (p.Phe931Cys) c.*1275T>G (n.*1275T>G) c.*2799T>G (n.*2799T>G) c.2549T>G (p.Phe850Cys) c.566T>G (p.Phe189Cys) c.625T>G c.1757T>G (p.Phe586Cys) c.2885T>G (p.Phe962Cys) c.3065T>G (p.Phe1022Cys) c.2732T>G (p.Phe911Cys) | |
7 | g.117606741T>A | CA4451341 | CFTR | c.2976T>A (p.Phe992Leu) c.*2690T>A (n.*2690T>A) c.2793T>A (p.Phe931Leu) c.*1276T>A (n.*1276T>A) c.*2800T>A (n.*2800T>A) c.2550T>A (p.Phe850Leu) c.567T>A (p.Phe189Leu) c.626T>A c.1758T>A (p.Phe586Leu) c.2886T>A (p.Phe962Leu) c.3066T>A (p.Phe1022Leu) c.2733T>A (p.Phe911Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117606741T>C | CA457228859 | CFTR | c.2976T>C (p.Phe992=) c.*2690T>C (n.*2690T>C) c.2793T>C (p.Phe931=) c.*1276T>C (n.*1276T>C) c.*2800T>C (n.*2800T>C) c.2550T>C (p.Phe850=) c.567T>C (p.Phe189=) c.626T>C c.1758T>C (p.Phe586=) c.2886T>C (p.Phe962=) c.3066T>C (p.Phe1022=) c.2733T>C (p.Phe911=) | gnomAD v4 |
7 | g.117606741T>G | CA368989201 | CFTR | c.2976T>G (p.Phe992Leu) c.*2690T>G (n.*2690T>G) c.2793T>G (p.Phe931Leu) c.*1276T>G (n.*1276T>G) c.*2800T>G (n.*2800T>G) c.2550T>G (p.Phe850Leu) c.567T>G (p.Phe189Leu) c.626T>G c.1758T>G (p.Phe586Leu) c.2886T>G (p.Phe962Leu) c.3066T>G (p.Phe1022Leu) c.2733T>G (p.Phe911Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117606741T= | CA1737379717 | CFTR | c.2976T= (p.Phe992=) c.*2690T= (n.*2690T=) c.2793T= (p.Phe931=) c.*1276T= (n.*1276T=) c.*2800T= (n.*2800T=) c.2550T= (p.Phe850=) c.567T= (p.Phe189=) c.626T= c.1758T= (p.Phe586=) c.2886T= (p.Phe962=) c.3066T= (p.Phe1022=) c.2733T= (p.Phe911=) | |
7 | g.117606742G>A | CA368989203 | CFTR | c.2977G>A (p.Asp993Asn) c.*2691G>A (n.*2691G>A) c.2794G>A (p.Asp932Asn) c.*1277G>A (n.*1277G>A) c.*2801G>A (n.*2801G>A) c.2551G>A (p.Asp851Asn) c.568G>A (p.Asp190Asn) c.627G>A c.1759G>A (p.Asp587Asn) c.2887G>A (p.Asp963Asn) c.3067G>A (p.Asp1023Asn) c.2734G>A (p.Asp912Asn) | |
7 | g.117606742G>C | CA368989204 | CFTR | c.2977G>C (p.Asp993His) c.*2691G>C (n.*2691G>C) c.2794G>C (p.Asp932His) c.*1277G>C (n.*1277G>C) c.*2801G>C (n.*2801G>C) c.2551G>C (p.Asp851His) c.568G>C (p.Asp190His) c.627G>C c.1759G>C (p.Asp587His) c.2887G>C (p.Asp963His) c.3067G>C (p.Asp1023His) c.2734G>C (p.Asp912His) | |
7 | g.117606742G= | CA1737379739 | CFTR | c.2977G= (p.Asp993=) c.*2691G= (n.*2691G=) c.2794G= (p.Asp932=) c.*1277G= (n.*1277G=) c.*2801G= (n.*2801G=) c.2551G= (p.Asp851=) c.568G= (p.Asp190=) c.627G= c.1759G= (p.Asp587=) c.2887G= (p.Asp963=) c.3067G= (p.Asp1023=) c.2734G= (p.Asp912=) | |
7 | g.117606742G>T | CA326993 | CFTR | c.2977G>T (p.Asp993Tyr) c.*2691G>T (n.*2691G>T) c.2794G>T (p.Asp932Tyr) c.*1277G>T (n.*1277G>T) c.*2801G>T (n.*2801G>T) c.2551G>T (p.Asp851Tyr) c.568G>T (p.Asp190Tyr) c.627G>T c.1759G>T (p.Asp587Tyr) c.2887G>T (p.Asp963Tyr) c.3067G>T (p.Asp1023Tyr) c.2734G>T (p.Asp912Tyr) | ClinVar dbSNP gnomAD v4 |
7 | g.117606743A= | CA1737379746 | CFTR | c.2978A= (p.Asp993=) c.*2692A= (n.*2692A=) c.2795A= (p.Asp932=) c.*1278A= (n.*1278A=) c.*2802A= (n.*2802A=) c.2552A= (p.Asp851=) c.569A= (p.Asp190=) c.628A= c.1760A= (p.Asp587=) c.2888A= (p.Asp963=) c.3068A= (p.Asp1023=) c.2735A= (p.Asp912=) | |
7 | g.117606743A>C | CA368989207 | CFTR | c.2978A>C (p.Asp993Ala) c.*2692A>C (n.*2692A>C) c.2795A>C (p.Asp932Ala) c.*1278A>C (n.*1278A>C) c.*2802A>C (n.*2802A>C) c.2552A>C (p.Asp851Ala) c.569A>C (p.Asp190Ala) c.628A>C c.1760A>C (p.Asp587Ala) c.2888A>C (p.Asp963Ala) c.3068A>C (p.Asp1023Ala) c.2735A>C (p.Asp912Ala) | |
7 | g.117606743A>G | CA4451342 | CFTR | c.2978A>G (p.Asp993Gly) c.*2692A>G (n.*2692A>G) c.2795A>G (p.Asp932Gly) c.*1278A>G (n.*1278A>G) c.*2802A>G (n.*2802A>G) c.2552A>G (p.Asp851Gly) c.569A>G (p.Asp190Gly) c.628A>G c.1760A>G (p.Asp587Gly) c.2888A>G (p.Asp963Gly) c.3068A>G (p.Asp1023Gly) c.2735A>G (p.Asp912Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117606743A>T | CA368989210 | CFTR | c.2978A>T (p.Asp993Val) c.*2692A>T (n.*2692A>T) c.2795A>T (p.Asp932Val) c.*1278A>T (n.*1278A>T) c.*2802A>T (n.*2802A>T) c.2552A>T (p.Asp851Val) c.569A>T (p.Asp190Val) c.628A>T c.1760A>T (p.Asp587Val) c.2888A>T (p.Asp963Val) c.3068A>T (p.Asp1023Val) c.2735A>T (p.Asp912Val) | |
7 | g.117606744C>A | CA368989212 | CFTR | c.2979C>A (p.Asp993Glu) c.*2693C>A (n.*2693C>A) c.2796C>A (p.Asp932Glu) c.*1279C>A (n.*1279C>A) c.*2803C>A (n.*2803C>A) c.2553C>A (p.Asp851Glu) c.570C>A (p.Asp190Glu) c.629C>A c.1761C>A (p.Asp587Glu) c.2889C>A (p.Asp963Glu) c.3069C>A (p.Asp1023Glu) c.2736C>A (p.Asp912Glu) | gnomAD v4 |
7 | g.117606744C>G | CA368989214 | CFTR | c.2979C>G (p.Asp993Glu) c.*2693C>G (n.*2693C>G) c.2796C>G (p.Asp932Glu) c.*1279C>G (n.*1279C>G) c.*2803C>G (n.*2803C>G) c.2553C>G (p.Asp851Glu) c.570C>G (p.Asp190Glu) c.629C>G c.1761C>G (p.Asp587Glu) c.2889C>G (p.Asp963Glu) c.3069C>G (p.Asp1023Glu) c.2736C>G (p.Asp912Glu) | |
7 | g.117606744C>T | CA457228861 | CFTR | c.2979C>T (p.Asp993=) c.*2693C>T (n.*2693C>T) c.2796C>T (p.Asp932=) c.*1279C>T (n.*1279C>T) c.*2803C>T (n.*2803C>T) c.2553C>T (p.Asp851=) c.570C>T (p.Asp190=) c.629C>T c.1761C>T (p.Asp587=) c.2889C>T (p.Asp963=) c.3069C>T (p.Asp1023=) c.2736C>T (p.Asp912=) | ClinVar dbSNP |
7 | g.117606745T>A | CA368989219 | CFTR | c.2980T>A (p.Phe994Ile) c.*2694T>A (n.*2694T>A) c.2797T>A (p.Phe933Ile) c.*1280T>A (n.*1280T>A) c.*2804T>A (n.*2804T>A) c.2554T>A (p.Phe852Ile) c.571T>A (p.Phe191Ile) c.630T>A c.1762T>A (p.Phe588Ile) c.2890T>A (p.Phe964Ile) c.3070T>A (p.Phe1024Ile) c.2737T>A (p.Phe913Ile) | |
7 | g.117606745T>C | CA368989216 | CFTR | c.2980T>C (p.Phe994Leu) c.*2694T>C (n.*2694T>C) c.2797T>C (p.Phe933Leu) c.*1280T>C (n.*1280T>C) c.*2804T>C (n.*2804T>C) c.2554T>C (p.Phe852Leu) c.571T>C (p.Phe191Leu) c.630T>C c.1762T>C (p.Phe588Leu) c.2890T>C (p.Phe964Leu) c.3070T>C (p.Phe1024Leu) c.2737T>C (p.Phe913Leu) | gnomAD v4 |
7 | g.117606745T>G | CA368989217 | CFTR | c.2980T>G (p.Phe994Val) c.*2694T>G (n.*2694T>G) c.2797T>G (p.Phe933Val) c.*1280T>G (n.*1280T>G) c.*2804T>G (n.*2804T>G) c.2554T>G (p.Phe852Val) c.571T>G (p.Phe191Val) c.630T>G c.1762T>G (p.Phe588Val) c.2890T>G (p.Phe964Val) c.3070T>G (p.Phe1024Val) c.2737T>G (p.Phe913Val) | |
7 | g.117606745_117606754delinsTTCATCCAGG | CA1737379757 | CFTR | c.2980_2988+1delinsTTCATCCAGG c.*2694_*2702+1delinsTTCATCCAGG c.2797_2805+1delinsTTCATCCAGG c.*1280_*1288+1delinsTTCATCCAGG c.*2804_*2812+1delinsTTCATCCAGG c.2554_2562+1delinsTTCATCCAGG c.571_579+1delinsTTCATCCAGG c.630_638+1delinsTTCATCCAGG c.1762_1770+1delinsTTCATCCAGG c.2890_2898+1delinsTTCATCCAGG c.3070_3078+1delinsTTCATCCAGG c.2737_2745+1delinsTTCATCCAGG | |
7 | g.117606746T>A | CA368989222 | CFTR | c.2981T>A (p.Phe994Tyr) c.*2695T>A (n.*2695T>A) c.2798T>A (p.Phe933Tyr) c.*1281T>A (n.*1281T>A) c.*2805T>A (n.*2805T>A) c.2555T>A (p.Phe852Tyr) c.572T>A (p.Phe191Tyr) c.631T>A c.1763T>A (p.Phe588Tyr) c.2891T>A (p.Phe964Tyr) c.3071T>A (p.Phe1024Tyr) c.2738T>A (p.Phe913Tyr) | |
7 | g.117606746T>C | CA368989224 | CFTR | c.2981T>C (p.Phe994Ser) c.*2695T>C (n.*2695T>C) c.2798T>C (p.Phe933Ser) c.*1281T>C (n.*1281T>C) c.*2805T>C (n.*2805T>C) c.2555T>C (p.Phe852Ser) c.572T>C (p.Phe191Ser) c.631T>C c.1763T>C (p.Phe588Ser) c.2891T>C (p.Phe964Ser) c.3071T>C (p.Phe1024Ser) c.2738T>C (p.Phe913Ser) | gnomAD v4 |
7 | g.117606746T>G | CA326995 | CFTR | c.2981T>G (p.Phe994Cys) c.*2695T>G (n.*2695T>G) c.2798T>G (p.Phe933Cys) c.*1281T>G (n.*1281T>G) c.*2805T>G (n.*2805T>G) c.2555T>G (p.Phe852Cys) c.572T>G (p.Phe191Cys) c.631T>G c.1763T>G (p.Phe588Cys) c.2891T>G (p.Phe964Cys) c.3071T>G (p.Phe1024Cys) c.2738T>G (p.Phe913Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606746T= | CA1737379770 | CFTR | c.2981T= (p.Phe994=) c.*2695T= (n.*2695T=) c.2798T= (p.Phe933=) c.*1281T= (n.*1281T=) c.*2805T= (n.*2805T=) c.2555T= (p.Phe852=) c.572T= (p.Phe191=) c.631T= c.1763T= (p.Phe588=) c.2891T= (p.Phe964=) c.3071T= (p.Phe1024=) c.2738T= (p.Phe913=) | |
7 | g.117606747_117606755del | CA645509185 | CFTR | c.2982_2988+2del c.*2696_*2702+2del c.2799_2805+2del c.*1282_*1288+2del c.*2806_*2812+2del c.2556_2562+2del c.573_579+2del c.632_638+2del c.1764_1770+2del c.2892_2898+2del c.3072_3078+2del c.2739_2745+2del | ClinVar dbSNP gnomAD v4 |
7 | g.117606747C>A | CA4451343 | CFTR | c.2982C>A (p.Phe994Leu) c.*2696C>A (n.*2696C>A) c.2799C>A (p.Phe933Leu) c.*1282C>A (n.*1282C>A) c.*2806C>A (n.*2806C>A) c.2556C>A (p.Phe852Leu) c.573C>A (p.Phe191Leu) c.632C>A c.1764C>A (p.Phe588Leu) c.2892C>A (p.Phe964Leu) c.3072C>A (p.Phe1024Leu) c.2739C>A (p.Phe913Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606747C= | CA1737379784 | CFTR | c.2982C= (p.Phe994=) c.*2696C= (n.*2696C=) c.2799C= (p.Phe933=) c.*1282C= (n.*1282C=) c.*2806C= (n.*2806C=) c.2556C= (p.Phe852=) c.573C= (p.Phe191=) c.632C= c.1764C= (p.Phe588=) c.2892C= (p.Phe964=) c.3072C= (p.Phe1024=) c.2739C= (p.Phe913=) | |
7 | g.117606747C>G | CA368989226 | CFTR | c.2982C>G (p.Phe994Leu) c.*2696C>G (n.*2696C>G) c.2799C>G (p.Phe933Leu) c.*1282C>G (n.*1282C>G) c.*2806C>G (n.*2806C>G) c.2556C>G (p.Phe852Leu) c.573C>G (p.Phe191Leu) c.632C>G c.1764C>G (p.Phe588Leu) c.2892C>G (p.Phe964Leu) c.3072C>G (p.Phe1024Leu) c.2739C>G (p.Phe913Leu) | |
7 | g.117606747C>T | CA457228864 | CFTR | c.2982C>T (p.Phe994=) c.*2696C>T (n.*2696C>T) c.2799C>T (p.Phe933=) c.*1282C>T (n.*1282C>T) c.*2806C>T (n.*2806C>T) c.2556C>T (p.Phe852=) c.573C>T (p.Phe191=) c.632C>T c.1764C>T (p.Phe588=) c.2892C>T (p.Phe964=) c.3072C>T (p.Phe1024=) c.2739C>T (p.Phe913=) | ClinVar gnomAD v4 |
7 | g.117606748A= | CA1737379794 | CFTR | c.2983A= (p.Ile995=) c.*2697A= (n.*2697A=) c.2800A= (p.Ile934=) c.*1283A= (n.*1283A=) c.*2807A= (n.*2807A=) c.2557A= (p.Ile853=) c.574A= (p.Ile192=) c.633A= c.1765A= (p.Ile589=) c.2893A= (p.Ile965=) c.3073A= (p.Ile1025=) c.2740A= (p.Ile914=) | |
7 | g.117606748A>C | CA4451344 | CFTR | c.2983A>C (p.Ile995Leu) c.*2697A>C (n.*2697A>C) c.2800A>C (p.Ile934Leu) c.*1283A>C (n.*1283A>C) c.*2807A>C (n.*2807A>C) c.2557A>C (p.Ile853Leu) c.574A>C (p.Ile192Leu) c.633A>C c.1765A>C (p.Ile589Leu) c.2893A>C (p.Ile965Leu) c.3073A>C (p.Ile1025Leu) c.2740A>C (p.Ile914Leu) | dbSNP ExAC gnomAD v2 |
7 | g.117606748A>G | CA368989229 | CFTR | c.2983A>G (p.Ile995Val) c.*2697A>G (n.*2697A>G) c.2800A>G (p.Ile934Val) c.*1283A>G (n.*1283A>G) c.*2807A>G (n.*2807A>G) c.2557A>G (p.Ile853Val) c.574A>G (p.Ile192Val) c.633A>G c.1765A>G (p.Ile589Val) c.2893A>G (p.Ile965Val) c.3073A>G (p.Ile1025Val) c.2740A>G (p.Ile914Val) | gnomAD v4 |
7 | g.117606748A>T | CA368989231 | CFTR | c.2983A>T (p.Ile995Phe) c.*2697A>T (n.*2697A>T) c.2800A>T (p.Ile934Phe) c.*1283A>T (n.*1283A>T) c.*2807A>T (n.*2807A>T) c.2557A>T (p.Ile853Phe) c.574A>T (p.Ile192Phe) c.633A>T c.1765A>T (p.Ile589Phe) c.2893A>T (p.Ile965Phe) c.3073A>T (p.Ile1025Phe) c.2740A>T (p.Ile914Phe) | |
7 | g.117606749T>A | CA368989234 | CFTR | c.2984T>A (p.Ile995Asn) c.*2698T>A (n.*2698T>A) c.2801T>A (p.Ile934Asn) c.*1284T>A (n.*1284T>A) c.*2808T>A (n.*2808T>A) c.2558T>A (p.Ile853Asn) c.575T>A (p.Ile192Asn) c.634T>A c.1766T>A (p.Ile589Asn) c.2894T>A (p.Ile965Asn) c.3074T>A (p.Ile1025Asn) c.2741T>A (p.Ile914Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117606749T>C | CA368989235 | CFTR | c.2984T>C (p.Ile995Thr) c.*2698T>C (n.*2698T>C) c.2801T>C (p.Ile934Thr) c.*1284T>C (n.*1284T>C) c.*2808T>C (n.*2808T>C) c.2558T>C (p.Ile853Thr) c.575T>C (p.Ile192Thr) c.634T>C c.1766T>C (p.Ile589Thr) c.2894T>C (p.Ile965Thr) c.3074T>C (p.Ile1025Thr) c.2741T>C (p.Ile914Thr) | gnomAD v4 |
7 | g.117606749T>G | CA368989236 | CFTR | c.2984T>G (p.Ile995Ser) c.*2698T>G (n.*2698T>G) c.2801T>G (p.Ile934Ser) c.*1284T>G (n.*1284T>G) c.*2808T>G (n.*2808T>G) c.2558T>G (p.Ile853Ser) c.575T>G (p.Ile192Ser) c.634T>G c.1766T>G (p.Ile589Ser) c.2894T>G (p.Ile965Ser) c.3074T>G (p.Ile1025Ser) c.2741T>G (p.Ile914Ser) | |
7 | g.117606749T= | CA1737379808 | CFTR | c.2984T= (p.Ile995=) c.*2698T= (n.*2698T=) c.2801T= (p.Ile934=) c.*1284T= (n.*1284T=) c.*2808T= (n.*2808T=) c.2558T= (p.Ile853=) c.575T= (p.Ile192=) c.634T= c.1766T= (p.Ile589=) c.2894T= (p.Ile965=) c.3074T= (p.Ile1025=) c.2741T= (p.Ile914=) | |
7 | g.117606749dup | CA913111896 | CFTR | c.2984dup (p.Gln996ProfsTer?) c.*2698dup (n.*2698dup) c.2801dup (p.Gln935ProfsTer?) c.*1284dup (n.*1284dup) c.*2808dup (n.*2808dup) c.2558dup (p.Gln854ProfsTer?) c.575dup (p.Gln193ProfsTer?) c.634dup c.1766dup (p.Gln590ProfsTer?) c.2894dup (p.Gln966ProfsTer?) c.3074dup (p.Gln1026ProfsTer?) c.2741dup (p.Gln915ProfsTer?) | |
7 | g.117606750C>A | CA457228865 | CFTR | c.2985C>A (p.Ile995=) c.*2699C>A (n.*2699C>A) c.2802C>A (p.Ile934=) c.*1285C>A (n.*1285C>A) c.*2809C>A (n.*2809C>A) c.2559C>A (p.Ile853=) c.576C>A (p.Ile192=) c.635C>A c.1767C>A (p.Ile589=) c.2895C>A (p.Ile965=) c.3075C>A (p.Ile1025=) c.2742C>A (p.Ile914=) | gnomAD v4 |
7 | g.117606750C>G | CA368989238 | CFTR | c.2985C>G (p.Ile995Met) c.*2699C>G (n.*2699C>G) c.2802C>G (p.Ile934Met) c.*1285C>G (n.*1285C>G) c.*2809C>G (n.*2809C>G) c.2559C>G (p.Ile853Met) c.576C>G (p.Ile192Met) c.635C>G c.1767C>G (p.Ile589Met) c.2895C>G (p.Ile965Met) c.3075C>G (p.Ile1025Met) c.2742C>G (p.Ile914Met) | |
7 | g.117606750C>T | CA457228867 | CFTR | c.2985C>T (p.Ile995=) c.*2699C>T (n.*2699C>T) c.2802C>T (p.Ile934=) c.*1285C>T (n.*1285C>T) c.*2809C>T (n.*2809C>T) c.2559C>T (p.Ile853=) c.576C>T (p.Ile192=) c.635C>T c.1767C>T (p.Ile589=) c.2895C>T (p.Ile965=) c.3075C>T (p.Ile1025=) c.2742C>T (p.Ile914=) | |
7 | g.117606751dup | CA658822507 | CFTR | c.2986dup (p.Gln996ProfsTer?) c.*2700dup (n.*2700dup) c.2803dup (p.Gln935ProfsTer?) c.*1286dup (n.*1286dup) c.*2810dup (n.*2810dup) c.2560dup (p.Gln854ProfsTer?) c.577dup (p.Gln193ProfsTer?) c.636dup c.1768dup (p.Gln590ProfsTer?) c.2896dup (p.Gln966ProfsTer?) c.3076dup (p.Gln1026ProfsTer?) c.2743dup (p.Gln915ProfsTer?) | ClinVar dbSNP |
7 | g.117606751del | CA2579000332 | CFTR | c.2986del (p.Gln996SerfsTer4) c.*2700del (n.*2700del) c.2803del (p.Gln935SerfsTer4) c.*1286del (n.*1286del) c.*2810del (n.*2810del) c.2560del (p.Gln854SerfsTer4) c.577del (p.Gln193SerfsTer4) c.636del c.1768del (p.Gln590SerfsTer4) c.2896del (p.Gln966SerfsTer4) c.3076del (p.Gln1026SerfsTer4) c.2743del (p.Gln915SerfsTer4) | gnomAD v4 |
7 | g.117606751C>A | CA368989240 | CFTR | c.2986C>A (p.Gln996Lys) c.*2700C>A (n.*2700C>A) c.2803C>A (p.Gln935Lys) c.*1286C>A (n.*1286C>A) c.*2810C>A (n.*2810C>A) c.2560C>A (p.Gln854Lys) c.577C>A (p.Gln193Lys) c.636C>A c.1768C>A (p.Gln590Lys) c.2896C>A (p.Gln966Lys) c.3076C>A (p.Gln1026Lys) c.2743C>A (p.Gln915Lys) | gnomAD v4 |
7 | g.117606751C>G | CA368989243 | CFTR | c.2986C>G (p.Gln996Glu) c.*2700C>G (n.*2700C>G) c.2803C>G (p.Gln935Glu) c.*1286C>G (n.*1286C>G) c.*2810C>G (n.*2810C>G) c.2560C>G (p.Gln854Glu) c.577C>G (p.Gln193Glu) c.636C>G c.1768C>G (p.Gln590Glu) c.2896C>G (p.Gln966Glu) c.3076C>G (p.Gln1026Glu) c.2743C>G (p.Gln915Glu) | |
7 | g.117606751C>T | CA368989241 | CFTR | c.2986C>T (p.Gln996Ter) c.*2700C>T (n.*2700C>T) c.2803C>T (p.Gln935Ter) c.*1286C>T (n.*1286C>T) c.*2810C>T (n.*2810C>T) c.2560C>T (p.Gln854Ter) c.577C>T (p.Gln193Ter) c.636C>T c.1768C>T (p.Gln590Ter) c.2896C>T (p.Gln966Ter) c.3076C>T (p.Gln1026Ter) c.2743C>T (p.Gln915Ter) | COSMIC |
7 | g.117606752A>C | CA368989246 | CFTR | c.2987A>C (p.Gln996Pro) c.*2701A>C (n.*2701A>C) c.2804A>C (p.Gln935Pro) c.*1287A>C (n.*1287A>C) c.*2811A>C (n.*2811A>C) c.2561A>C (p.Gln854Pro) c.578A>C (p.Gln193Pro) c.637A>C c.1769A>C (p.Gln590Pro) c.2897A>C (p.Gln966Pro) c.3077A>C (p.Gln1026Pro) c.2744A>C (p.Gln915Pro) | |
7 | g.117606752A>G | CA368989249 | CFTR | c.2987A>G (p.Gln996Arg) c.*2701A>G (n.*2701A>G) c.2804A>G (p.Gln935Arg) c.*1287A>G (n.*1287A>G) c.*2811A>G (n.*2811A>G) c.2561A>G (p.Gln854Arg) c.578A>G (p.Gln193Arg) c.637A>G c.1769A>G (p.Gln590Arg) c.2897A>G (p.Gln966Arg) c.3077A>G (p.Gln1026Arg) c.2744A>G (p.Gln915Arg) | gnomAD v4 |
7 | g.117606752A>T | CA368989247 | CFTR | c.2987A>T (p.Gln996Leu) c.*2701A>T (n.*2701A>T) c.2804A>T (p.Gln935Leu) c.*1287A>T (n.*1287A>T) c.*2811A>T (n.*2811A>T) c.2561A>T (p.Gln854Leu) c.578A>T (p.Gln193Leu) c.637A>T c.1769A>T (p.Gln590Leu) c.2897A>T (p.Gln966Leu) c.3077A>T (p.Gln1026Leu) c.2744A>T (p.Gln915Leu) | gnomAD v4 |
7 | g.117606753G>A | CA221019 | CFTR | c.2988G>A (p.Gln996=) c.*2702G>A (n.*2702G>A) c.2805G>A (p.Gln935=) c.*1288G>A (n.*1288G>A) c.*2812G>A (n.*2812G>A) c.2562G>A (p.Gln854=) c.579G>A (p.Gln193=) c.638G>A c.1770G>A (p.Gln590=) c.2898G>A (p.Gln966=) c.3078G>A (p.Gln1026=) c.2745G>A (p.Gln915=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606753G>C | CA368989252 | CFTR | c.2988G>C (p.Gln996His) c.*2702G>C (n.*2702G>C) c.2805G>C (p.Gln935His) c.*1288G>C (n.*1288G>C) c.*2812G>C (n.*2812G>C) c.2562G>C (p.Gln854His) c.579G>C (p.Gln193His) c.638G>C c.1770G>C (p.Gln590His) c.2898G>C (p.Gln966His) c.3078G>C (p.Gln1026His) c.2745G>C (p.Gln915His) | |
7 | g.117606753G= | CA1737379824 | CFTR | c.2988G= (p.Gln996=) c.*2702G= (n.*2702G=) c.2805G= (p.Gln935=) c.*1288G= (n.*1288G=) c.*2812G= (n.*2812G=) c.2562G= (p.Gln854=) c.579G= (p.Gln193=) c.638G= c.1770G= (p.Gln590=) c.2898G= (p.Gln966=) c.3078G= (p.Gln1026=) c.2745G= (p.Gln915=) | |
7 | g.117606753G>T | CA368989254 | CFTR | c.2988G>T (p.Gln996His) c.*2702G>T (n.*2702G>T) c.2805G>T (p.Gln935His) c.*1288G>T (n.*1288G>T) c.*2812G>T (n.*2812G>T) c.2562G>T (p.Gln854His) c.579G>T (p.Gln193His) c.638G>T c.1770G>T (p.Gln590His) c.2898G>T (p.Gln966His) c.3078G>T (p.Gln1026His) c.2745G>T (p.Gln915His) | |
7 | g.117606754G>A | CA221018 | CFTR | c.2988+1G>A (n.2988+1G>A) c.*2702+1G>A (n.*2702+1G>A) c.2805+1G>A (n.2805+1G>A) c.*1288+1G>A (n.*1288+1G>A) c.*2812+1G>A (n.*2812+1G>A) c.2562+1G>A (n.2562+1G>A) c.579+1G>A (n.579+1G>A) c.638+1G>A c.1770+1G>A (n.1770+1G>A) c.2898+1G>A (n.2898+1G>A) c.3078+1G>A (n.3078+1G>A) c.2745+1G>A (n.2745+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117606754G>C | CA368989257 | CFTR | c.2988+1G>C (n.2988+1G>C) c.*2702+1G>C (n.*2702+1G>C) c.2805+1G>C (n.2805+1G>C) c.*1288+1G>C (n.*1288+1G>C) c.*2812+1G>C (n.*2812+1G>C) c.2562+1G>C (n.2562+1G>C) c.579+1G>C (n.579+1G>C) c.638+1G>C c.1770+1G>C (n.1770+1G>C) c.2898+1G>C (n.2898+1G>C) c.3078+1G>C (n.3078+1G>C) c.2745+1G>C (n.2745+1G>C) | ClinVar dbSNP |
7 | g.117606754G= | CA1737379836 | CFTR | c.2988+1G= (n.2988+1G=) c.*2702+1G= (n.*2702+1G=) c.2805+1G= (n.2805+1G=) c.*1288+1G= (n.*1288+1G=) c.*2812+1G= (n.*2812+1G=) c.2562+1G= (n.2562+1G=) c.579+1G= (n.579+1G=) c.638+1G= c.1770+1G= (n.1770+1G=) c.2898+1G= (n.2898+1G=) c.3078+1G= (n.3078+1G=) c.2745+1G= (n.2745+1G=) | |
7 | g.117606754G>T | CA368989259 | CFTR | c.2988+1G>T (n.2988+1G>T) c.*2702+1G>T (n.*2702+1G>T) c.2805+1G>T (n.2805+1G>T) c.*1288+1G>T (n.*1288+1G>T) c.*2812+1G>T (n.*2812+1G>T) c.2562+1G>T (n.2562+1G>T) c.579+1G>T (n.579+1G>T) c.638+1G>T c.1770+1G>T (n.1770+1G>T) c.2898+1G>T (n.2898+1G>T) c.3078+1G>T (n.3078+1G>T) c.2745+1G>T (n.2745+1G>T) | ClinVar dbSNP gnomAD v4 |
7 | g.117606755T>A | CA368989261 | CFTR | c.2988+2T>A (n.2988+2T>A) c.*2702+2T>A (n.*2702+2T>A) c.2805+2T>A (n.2805+2T>A) c.*1288+2T>A (n.*1288+2T>A) c.*2812+2T>A (n.*2812+2T>A) c.2562+2T>A (n.2562+2T>A) c.579+2T>A (n.579+2T>A) c.638+2T>A c.1770+2T>A (n.1770+2T>A) c.2898+2T>A (n.2898+2T>A) c.3078+2T>A (n.3078+2T>A) c.2745+2T>A (n.2745+2T>A) | gnomAD v4 |
7 | g.117606755T>C | CA368989263 | CFTR | c.2988+2T>C (n.2988+2T>C) c.*2702+2T>C (n.*2702+2T>C) c.2805+2T>C (n.2805+2T>C) c.*1288+2T>C (n.*1288+2T>C) c.*2812+2T>C (n.*2812+2T>C) c.2562+2T>C (n.2562+2T>C) c.579+2T>C (n.579+2T>C) c.638+2T>C c.1770+2T>C (n.1770+2T>C) c.2898+2T>C (n.2898+2T>C) c.3078+2T>C (n.3078+2T>C) c.2745+2T>C (n.2745+2T>C) | ClinVar dbSNP COSMIC |
7 | g.117606755T>G | CA368989264 | CFTR | c.2988+2T>G (n.2988+2T>G) c.*2702+2T>G (n.*2702+2T>G) c.2805+2T>G (n.2805+2T>G) c.*1288+2T>G (n.*1288+2T>G) c.*2812+2T>G (n.*2812+2T>G) c.2562+2T>G (n.2562+2T>G) c.579+2T>G (n.579+2T>G) c.638+2T>G c.1770+2T>G (n.1770+2T>G) c.2898+2T>G (n.2898+2T>G) c.3078+2T>G (n.3078+2T>G) c.2745+2T>G (n.2745+2T>G) | ClinVar dbSNP |
7 | g.117606755T= | CA1737379850 | CFTR | c.2988+2T= (n.2988+2T=) c.*2702+2T= (n.*2702+2T=) c.2805+2T= (n.2805+2T=) c.*1288+2T= (n.*1288+2T=) c.*2812+2T= (n.*2812+2T=) c.2562+2T= (n.2562+2T=) c.579+2T= (n.579+2T=) c.638+2T= c.1770+2T= (n.1770+2T=) c.2898+2T= (n.2898+2T=) c.3078+2T= (n.3078+2T=) c.2745+2T= (n.2745+2T=) | |
7 | g.117606756A>G | CA2573052805 | CFTR | c.2988+3A>G (n.2988+3A>G) c.*2702+3A>G (n.*2702+3A>G) c.2805+3A>G (n.2805+3A>G) c.*1288+3A>G (n.*1288+3A>G) c.*2812+3A>G (n.*2812+3A>G) c.2562+3A>G (n.2562+3A>G) c.579+3A>G (n.579+3A>G) c.638+3A>G c.1770+3A>G (n.1770+3A>G) c.2898+3A>G (n.2898+3A>G) c.3078+3A>G (n.3078+3A>G) c.2745+3A>G (n.2745+3A>G) | ClinVar dbSNP gnomAD v4 |
7 | g.117606757T>A | CA2697557584 | CFTR | c.2988+4T>A (n.2988+4T>A) c.*2702+4T>A (n.*2702+4T>A) c.2805+4T>A (n.2805+4T>A) c.*1288+4T>A (n.*1288+4T>A) c.*2812+4T>A (n.*2812+4T>A) c.2562+4T>A (n.2562+4T>A) c.579+4T>A (n.579+4T>A) c.638+4T>A c.1770+4T>A (n.1770+4T>A) c.2898+4T>A (n.2898+4T>A) c.3078+4T>A (n.3078+4T>A) c.2745+4T>A (n.2745+4T>A) | ClinVar |
7 | g.117606757T>C | CA2582341937 | CFTR | c.2988+4T>C (n.2988+4T>C) c.*2702+4T>C (n.*2702+4T>C) c.2805+4T>C (n.2805+4T>C) c.*1288+4T>C (n.*1288+4T>C) c.*2812+4T>C (n.*2812+4T>C) c.2562+4T>C (n.2562+4T>C) c.579+4T>C (n.579+4T>C) c.638+4T>C c.1770+4T>C (n.1770+4T>C) c.2898+4T>C (n.2898+4T>C) c.3078+4T>C (n.3078+4T>C) c.2745+4T>C (n.2745+4T>C) | ClinVar |