Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117607926_117616824delCA1139532136CFTRc.2988+1173_3468+2111del
c.*2702+1173_*3182+2111del
c.2805+1173_3285+2111del
c.*1288+1173_*1843+2111del
c.2988+1173_3462+2111del
c.*2812+1173_*3292+2111del
c.2562+1173_3042+2111del
c.579+1173_1059+2111del
c.638+1173_1118+2111del
c.1770+1173_2250+2111del
c.2898+1173_3378+2111del
c.3078+1173_3558+2111del
c.2745+1173_3225+2111del
7g.117610519_117614713delCA913189831CFTRc.2989_3468del
c.*2703_*3182del
c.2806_3285del
c.*1289_*1843del
c.2989_3462del
c.*2813_*3292del
c.2563_3042del
c.580_1059del
c.639_1118del
c.1771_2250del
c.2899_3378del
c.3079_3558del
c.2746_3225del
 ClinVar
7g.117611582_117614714delCA913189834CFTRc.3141_3468+1del
c.*2855_*3182+1del
c.2958_3285+1del
c.*1441_*1843+1del
c.3141_3462+1del
c.*2965_*3292+1del
c.2715_3042+1del
c.732_1059+1del
c.791_1118+1del
c.1923_2250+1del
c.3051_3378+1del
c.3231_3558+1del
c.2898_3225+1del
 ClinVar
7g.117614600delCA918112100CFTRc.3368-13del (n.3368-13del)
c.*3082-13del (n.*3082-13del)
c.3185-13del (n.3185-13del)
c.*1730del (n.*1730del)
c.3368-19del (n.3368-19del)
c.*3192-13del (n.*3192-13del)
c.2942-13del (n.2942-13del)
c.116-13del (n.116-13del)
c.959-13del (n.959-13del)
c.1018-13del
c.2150-13del (n.2150-13del)
c.3278-13del (n.3278-13del)
c.193-13del
c.3458-13del (n.3458-13del)
c.3125-13del (n.3125-13del)
 ClinVar dbSNP gnomAD v4
7g.117614599T>CCA2580076396CFTRc.3368-14T>C (n.3368-14T>C)
c.*3082-14T>C (n.*3082-14T>C)
c.3185-14T>C (n.3185-14T>C)
c.*1729T>C (n.*1729T>C)
c.3368-20T>C (n.3368-20T>C)
c.*3192-14T>C (n.*3192-14T>C)
c.2942-14T>C (n.2942-14T>C)
c.116-14T>C (n.116-14T>C)
c.959-14T>C (n.959-14T>C)
c.1018-14T>C
c.2150-14T>C (n.2150-14T>C)
c.3278-14T>C (n.3278-14T>C)
c.193-14T>C
c.3458-14T>C (n.3458-14T>C)
c.3125-14T>C (n.3125-14T>C)
 ClinVar gnomAD v4
7g.117614600T>CCA577222847CFTRc.3368-13T>C (n.3368-13T>C)
c.*3082-13T>C (n.*3082-13T>C)
c.3185-13T>C (n.3185-13T>C)
c.*1730T>C (n.*1730T>C)
c.3368-19T>C (n.3368-19T>C)
c.*3192-13T>C (n.*3192-13T>C)
c.2942-13T>C (n.2942-13T>C)
c.116-13T>C (n.116-13T>C)
c.959-13T>C (n.959-13T>C)
c.1018-13T>C
c.2150-13T>C (n.2150-13T>C)
c.3278-13T>C (n.3278-13T>C)
c.193-13T>C
c.3458-13T>C (n.3458-13T>C)
c.3125-13T>C (n.3125-13T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117614600T=CA1737391900CFTRc.3368-13T= (n.3368-13T=)
c.*3082-13T= (n.*3082-13T=)
c.3185-13T= (n.3185-13T=)
c.*1730T= (n.*1730T=)
c.3368-19T= (n.3368-19T=)
c.*3192-13T= (n.*3192-13T=)
c.2942-13T= (n.2942-13T=)
c.116-13T= (n.116-13T=)
c.959-13T= (n.959-13T=)
c.1018-13T=
c.2150-13T= (n.2150-13T=)
c.3278-13T= (n.3278-13T=)
c.193-13T=
c.3458-13T= (n.3458-13T=)
c.3125-13T= (n.3125-13T=)
7g.117614601delCA2579000293CFTRc.3368-12del (n.3368-12del)
c.*3082-12del (n.*3082-12del)
c.3185-12del (n.3185-12del)
c.*1731del (n.*1731del)
c.3368-18del (n.3368-18del)
c.*3192-12del (n.*3192-12del)
c.2942-12del (n.2942-12del)
c.116-12del (n.116-12del)
c.959-12del (n.959-12del)
c.1018-12del
c.2150-12del (n.2150-12del)
c.3278-12del (n.3278-12del)
c.193-12del
c.3458-12del (n.3458-12del)
c.3125-12del (n.3125-12del)
7g.117614603G>ACA16612020CFTRc.3368-10G>A (n.3368-10G>A)
c.*3082-10G>A (n.*3082-10G>A)
c.3185-10G>A (n.3185-10G>A)
c.*1733G>A (n.*1733G>A)
c.3368-16G>A (n.3368-16G>A)
c.*3192-10G>A (n.*3192-10G>A)
c.2942-10G>A (n.2942-10G>A)
c.116-10G>A (n.116-10G>A)
c.959-10G>A (n.959-10G>A)
c.1018-10G>A
c.2150-10G>A (n.2150-10G>A)
c.3278-10G>A (n.3278-10G>A)
c.193-10G>A
c.3458-10G>A (n.3458-10G>A)
c.3125-10G>A (n.3125-10G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117614603G=CA1737391902CFTRc.3368-10G= (n.3368-10G=)
c.*3082-10G= (n.*3082-10G=)
c.3185-10G= (n.3185-10G=)
c.*1733G= (n.*1733G=)
c.3368-16G= (n.3368-16G=)
c.*3192-10G= (n.*3192-10G=)
c.2942-10G= (n.2942-10G=)
c.116-10G= (n.116-10G=)
c.959-10G= (n.959-10G=)
c.1018-10G=
c.2150-10G= (n.2150-10G=)
c.3278-10G= (n.3278-10G=)
c.193-10G=
c.3458-10G= (n.3458-10G=)
c.3125-10G= (n.3125-10G=)
7g.117614604C>ACA2579000294CFTRc.3368-9C>A (n.3368-9C>A)
c.*3082-9C>A (n.*3082-9C>A)
c.3185-9C>A (n.3185-9C>A)
c.*1734C>A (n.*1734C>A)
c.3368-15C>A (n.3368-15C>A)
c.*3192-9C>A (n.*3192-9C>A)
c.2942-9C>A (n.2942-9C>A)
c.116-9C>A (n.116-9C>A)
c.959-9C>A (n.959-9C>A)
c.1018-9C>A
c.2150-9C>A (n.2150-9C>A)
c.3278-9C>A (n.3278-9C>A)
c.193-9C>A
c.3458-9C>A (n.3458-9C>A)
c.3125-9C>A (n.3125-9C>A)
 gnomAD v4
7g.117614604C>TCA2684619890CFTRc.3368-9C>T (n.3368-9C>T)
c.*3082-9C>T (n.*3082-9C>T)
c.3185-9C>T (n.3185-9C>T)
c.*1734C>T (n.*1734C>T)
c.3368-15C>T (n.3368-15C>T)
c.*3192-9C>T (n.*3192-9C>T)
c.2942-9C>T (n.2942-9C>T)
c.116-9C>T (n.116-9C>T)
c.959-9C>T (n.959-9C>T)
c.1018-9C>T
c.2150-9C>T (n.2150-9C>T)
c.3278-9C>T (n.3278-9C>T)
c.193-9C>T
c.3458-9C>T (n.3458-9C>T)
c.3125-9C>T (n.3125-9C>T)
 gnomAD v4
7g.117614605A=CA1737391904CFTRc.3368-8A= (n.3368-8A=)
c.*3082-8A= (n.*3082-8A=)
c.3185-8A= (n.3185-8A=)
c.*1735A= (n.*1735A=)
c.3368-14A= (n.3368-14A=)
c.*3192-8A= (n.*3192-8A=)
c.2942-8A= (n.2942-8A=)
c.116-8A= (n.116-8A=)
c.959-8A= (n.959-8A=)
c.1018-8A=
c.2150-8A= (n.2150-8A=)
c.3278-8A= (n.3278-8A=)
c.193-8A=
c.3458-8A= (n.3458-8A=)
c.3125-8A= (n.3125-8A=)
7g.117614605A>CCA1737391906CFTRc.3368-8A>C (n.3368-8A>C)
c.*3082-8A>C (n.*3082-8A>C)
c.3185-8A>C (n.3185-8A>C)
c.*1735A>C (n.*1735A>C)
c.3368-14A>C (n.3368-14A>C)
c.*3192-8A>C (n.*3192-8A>C)
c.2942-8A>C (n.2942-8A>C)
c.116-8A>C (n.116-8A>C)
c.959-8A>C (n.959-8A>C)
c.1018-8A>C
c.2150-8A>C (n.2150-8A>C)
c.3278-8A>C (n.3278-8A>C)
c.193-8A>C
c.3458-8A>C (n.3458-8A>C)
c.3125-8A>C (n.3125-8A>C)
 dbSNP gnomAD v4
7g.117614607C>ACA4451449CFTRc.3368-6C>A (n.3368-6C>A)
c.*3082-6C>A (n.*3082-6C>A)
c.3185-6C>A (n.3185-6C>A)
c.*1737C>A (n.*1737C>A)
c.3368-12C>A (n.3368-12C>A)
c.*3192-6C>A (n.*3192-6C>A)
c.2942-6C>A (n.2942-6C>A)
c.116-6C>A (n.116-6C>A)
c.959-6C>A (n.959-6C>A)
c.1018-6C>A
c.2150-6C>A (n.2150-6C>A)
c.3278-6C>A (n.3278-6C>A)
c.193-6C>A
c.3458-6C>A (n.3458-6C>A)
c.3125-6C>A (n.3125-6C>A)
 dbSNP ExAC gnomAD v4
7g.117614607C=CA1737391908CFTRc.3368-6C= (n.3368-6C=)
c.*3082-6C= (n.*3082-6C=)
c.3185-6C= (n.3185-6C=)
c.*1737C= (n.*1737C=)
c.3368-12C= (n.3368-12C=)
c.*3192-6C= (n.*3192-6C=)
c.2942-6C= (n.2942-6C=)
c.116-6C= (n.116-6C=)
c.959-6C= (n.959-6C=)
c.1018-6C=
c.2150-6C= (n.2150-6C=)
c.3278-6C= (n.3278-6C=)
c.193-6C=
c.3458-6C= (n.3458-6C=)
c.3125-6C= (n.3125-6C=)
7g.117614609A=CA1737391911CFTRc.3368-4A= (n.3368-4A=)
c.*3082-4A= (n.*3082-4A=)
c.3185-4A= (n.3185-4A=)
c.*1739A= (n.*1739A=)
c.3368-10A= (n.3368-10A=)
c.*3192-4A= (n.*3192-4A=)
c.2942-4A= (n.2942-4A=)
c.116-4A= (n.116-4A=)
c.959-4A= (n.959-4A=)
c.1018-4A=
c.2150-4A= (n.2150-4A=)
c.3278-4A= (n.3278-4A=)
c.193-4A=
c.3458-4A= (n.3458-4A=)
c.3125-4A= (n.3125-4A=)
7g.117614609A>GCA164968679CFTRc.3368-4A>G (n.3368-4A>G)
c.*3082-4A>G (n.*3082-4A>G)
c.3185-4A>G (n.3185-4A>G)
c.*1739A>G (n.*1739A>G)
c.3368-10A>G (n.3368-10A>G)
c.*3192-4A>G (n.*3192-4A>G)
c.2942-4A>G (n.2942-4A>G)
c.116-4A>G (n.116-4A>G)
c.959-4A>G (n.959-4A>G)
c.1018-4A>G
c.2150-4A>G (n.2150-4A>G)
c.3278-4A>G (n.3278-4A>G)
c.193-4A>G
c.3458-4A>G (n.3458-4A>G)
c.3125-4A>G (n.3125-4A>G)
 ClinVar dbSNP gnomAD v4
7g.117614609_117614610insCTAACA2511841807CFTRc.3368-4_3368-3insCTAA (n.3368-4_3368-3insCTAA)
c.*3082-4_*3082-3insCTAA (n.*3082-4_*3082-3insCTAA)
c.3185-4_3185-3insCTAA (n.3185-4_3185-3insCTAA)
c.*1739_*1740insCTAA (n.*1739_*1740insCTAA)
c.3368-10_3368-9insCTAA (n.3368-10_3368-9insCTAA)
c.*3192-4_*3192-3insCTAA (n.*3192-4_*3192-3insCTAA)
c.2942-4_2942-3insCTAA (n.2942-4_2942-3insCTAA)
c.116-4_116-3insCTAA (n.116-4_116-3insCTAA)
c.959-4_959-3insCTAA (n.959-4_959-3insCTAA)
c.1018-4_1018-3insCTAA
c.2150-4_2150-3insCTAA (n.2150-4_2150-3insCTAA)
c.3278-4_3278-3insCTAA (n.3278-4_3278-3insCTAA)
c.193-4_193-3insCTAA
c.3458-4_3458-3insCTAA (n.3458-4_3458-3insCTAA)
c.3125-4_3125-3insCTAA (n.3125-4_3125-3insCTAA)
7g.117614610T>CCA2573141554CFTRc.3368-3T>C (n.3368-3T>C)
c.*3082-3T>C (n.*3082-3T>C)
c.3185-3T>C (n.3185-3T>C)
c.*1740T>C (n.*1740T>C)
c.3368-9T>C (n.3368-9T>C)
c.*3192-3T>C (n.*3192-3T>C)
c.2942-3T>C (n.2942-3T>C)
c.116-3T>C (n.116-3T>C)
c.959-3T>C (n.959-3T>C)
c.1018-3T>C
c.2150-3T>C (n.2150-3T>C)
c.3278-3T>C (n.3278-3T>C)
c.193-3T>C
c.3458-3T>C (n.3458-3T>C)
c.3125-3T>C (n.3125-3T>C)
 ClinVar dbSNP gnomAD v4
7g.117614610T=CA1737391918CFTRc.3368-3T= (n.3368-3T=)
c.*3082-3T= (n.*3082-3T=)
c.3185-3T= (n.3185-3T=)
c.*1740T= (n.*1740T=)
c.3368-9T= (n.3368-9T=)
c.*3192-3T= (n.*3192-3T=)
c.2942-3T= (n.2942-3T=)
c.116-3T= (n.116-3T=)
c.959-3T= (n.959-3T=)
c.1018-3T=
c.2150-3T= (n.2150-3T=)
c.3278-3T= (n.3278-3T=)
c.193-3T=
c.3458-3T= (n.3458-3T=)
c.3125-3T= (n.3125-3T=)
7g.117614610_117614613delinsTAGGCA1737391916CFTRc.3368-3_3368delinsTAGG
c.*3082-3_*3082delinsTAGG
c.3185-3_3185delinsTAGG
c.*1740_*1743delinsTAGG (n.*1740_*1743delinsTAGG)
c.3368-9_3368-6delinsTAGG (n.3368-9_3368-6delinsTAGG)
c.*3192-3_*3192delinsTAGG
c.2942-3_2942delinsTAGG
c.116-3_116delinsTAGG
c.959-3_959delinsTAGG
c.1018-3_1018delinsTAGG
c.2150-3_2150delinsTAGG
c.3278-3_3278delinsTAGG
c.193-3_193delinsTAGG
c.3458-3_3458delinsTAGG
c.3125-3_3125delinsTAGG
7g.117614611A=CA1737391927CFTRc.3368-2A= (n.3368-2A=)
c.*3082-2A= (n.*3082-2A=)
c.3185-2A= (n.3185-2A=)
c.*1741A= (n.*1741A=)
c.3368-8A= (n.3368-8A=)
c.*3192-2A= (n.*3192-2A=)
c.2942-2A= (n.2942-2A=)
c.116-2A= (n.116-2A=)
c.959-2A= (n.959-2A=)
c.1018-2A=
c.2150-2A= (n.2150-2A=)
c.3278-2A= (n.3278-2A=)
c.193-2A=
c.3458-2A= (n.3458-2A=)
c.3125-2A= (n.3125-2A=)
7g.117614611A>CCA368993233CFTRc.3368-2A>C (n.3368-2A>C)
c.*3082-2A>C (n.*3082-2A>C)
c.3185-2A>C (n.3185-2A>C)
c.*1741A>C (n.*1741A>C)
c.3368-8A>C (n.3368-8A>C)
c.*3192-2A>C (n.*3192-2A>C)
c.2942-2A>C (n.2942-2A>C)
c.116-2A>C (n.116-2A>C)
c.959-2A>C (n.959-2A>C)
c.1018-2A>C
c.2150-2A>C (n.2150-2A>C)
c.3278-2A>C (n.3278-2A>C)
c.193-2A>C
c.3458-2A>C (n.3458-2A>C)
c.3125-2A>C (n.3125-2A>C)
7g.117614611A>GCA273950CFTRc.3368-2A>G (n.3368-2A>G)
c.*3082-2A>G (n.*3082-2A>G)
c.3185-2A>G (n.3185-2A>G)
c.*1741A>G (n.*1741A>G)
c.3368-8A>G (n.3368-8A>G)
c.*3192-2A>G (n.*3192-2A>G)
c.2942-2A>G (n.2942-2A>G)
c.116-2A>G (n.116-2A>G)
c.959-2A>G (n.959-2A>G)
c.1018-2A>G
c.2150-2A>G (n.2150-2A>G)
c.3278-2A>G (n.3278-2A>G)
c.193-2A>G
c.3458-2A>G (n.3458-2A>G)
c.3125-2A>G (n.3125-2A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614611A>TCA4451451CFTRc.3368-2A>T (n.3368-2A>T)
c.*3082-2A>T (n.*3082-2A>T)
c.3185-2A>T (n.3185-2A>T)
c.*1741A>T (n.*1741A>T)
c.3368-8A>T (n.3368-8A>T)
c.*3192-2A>T (n.*3192-2A>T)
c.2942-2A>T (n.2942-2A>T)
c.116-2A>T (n.116-2A>T)
c.959-2A>T (n.959-2A>T)
c.1018-2A>T
c.2150-2A>T (n.2150-2A>T)
c.3278-2A>T (n.3278-2A>T)
c.193-2A>T
c.3458-2A>T (n.3458-2A>T)
c.3125-2A>T (n.3125-2A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614613_117614615delCA4451450CFTRc.3368_3370del
c.*3082_*3084del
c.3185_3187del
c.*1743_*1745del (n.*1743_*1745del)
c.3368-6_3368-4del (n.3368-6_3368-4del)
c.*3192_*3194del
c.2942_2944del
c.116_118del
c.959_961del
c.1018_1020del
c.2150_2152del
c.3278_3280del
c.193_195del
c.3458_3460del
c.3125_3127del
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614621_117614626dupCA645509186CFTRc.3376_3381dup
c.*3090_*3095dup
c.3193_3198dup
c.*1751_*1756dup (n.*1751_*1756dup)
c.3370_3375dup
c.*3200_*3205dup
c.2950_2955dup
c.124_129dup
c.967_972dup
c.1026_1031dup
c.2158_2163dup
c.3286_3291dup
c.201_206dup
c.3466_3471dup
c.3133_3138dup
 ClinVar dbSNP gnomAD v4
7g.117614621_117614626delCA2579000295CFTRc.3376_3381del
c.*3090_*3095del
c.3193_3198del
c.*1751_*1756del (n.*1751_*1756del)
c.3370_3375del
c.*3200_*3205del
c.2950_2955del
c.124_129del
c.967_972del
c.1026_1031del
c.2158_2163del
c.3286_3291del
c.201_206del
c.3466_3471del
c.3133_3138del
 ClinVar dbSNP gnomAD v4
7g.117614612G>ACA327159CFTRc.3368-1G>A (n.3368-1G>A)
c.*3082-1G>A (n.*3082-1G>A)
c.3185-1G>A (n.3185-1G>A)
c.*1742G>A (n.*1742G>A)
c.3368-7G>A (n.3368-7G>A)
c.*3192-1G>A (n.*3192-1G>A)
c.2942-1G>A (n.2942-1G>A)
c.116-1G>A (n.116-1G>A)
c.959-1G>A (n.959-1G>A)
c.1018-1G>A
c.2150-1G>A (n.2150-1G>A)
c.3278-1G>A (n.3278-1G>A)
c.193-1G>A
c.3458-1G>A (n.3458-1G>A)
c.3125-1G>A (n.3125-1G>A)
 dbSNP
7g.117614612G>CCA368993241CFTRc.3368-1G>C (n.3368-1G>C)
c.*3082-1G>C (n.*3082-1G>C)
c.3185-1G>C (n.3185-1G>C)
c.*1742G>C (n.*1742G>C)
c.3368-7G>C (n.3368-7G>C)
c.*3192-1G>C (n.*3192-1G>C)
c.2942-1G>C (n.2942-1G>C)
c.116-1G>C (n.116-1G>C)
c.959-1G>C (n.959-1G>C)
c.1018-1G>C
c.2150-1G>C (n.2150-1G>C)
c.3278-1G>C (n.3278-1G>C)
c.193-1G>C
c.3458-1G>C (n.3458-1G>C)
c.3125-1G>C (n.3125-1G>C)
7g.117614612G=CA1737391932CFTRc.3368-1G= (n.3368-1G=)
c.*3082-1G= (n.*3082-1G=)
c.3185-1G= (n.3185-1G=)
c.*1742G= (n.*1742G=)
c.3368-7G= (n.3368-7G=)
c.*3192-1G= (n.*3192-1G=)
c.2942-1G= (n.2942-1G=)
c.116-1G= (n.116-1G=)
c.959-1G= (n.959-1G=)
c.1018-1G=
c.2150-1G= (n.2150-1G=)
c.3278-1G= (n.3278-1G=)
c.193-1G=
c.3458-1G= (n.3458-1G=)
c.3125-1G= (n.3125-1G=)
7g.117614612G>TCA368993243CFTRc.3368-1G>T (n.3368-1G>T)
c.*3082-1G>T (n.*3082-1G>T)
c.3185-1G>T (n.3185-1G>T)
c.*1742G>T (n.*1742G>T)
c.3368-7G>T (n.3368-7G>T)
c.*3192-1G>T (n.*3192-1G>T)
c.2942-1G>T (n.2942-1G>T)
c.116-1G>T (n.116-1G>T)
c.959-1G>T (n.959-1G>T)
c.1018-1G>T
c.2150-1G>T (n.2150-1G>T)
c.3278-1G>T (n.3278-1G>T)
c.193-1G>T
c.3458-1G>T (n.3458-1G>T)
c.3125-1G>T (n.3125-1G>T)
7g.117614613G>ACA368993245CFTRc.3368G>A (p.Gly1123Glu)
c.*3082G>A (n.*3082G>A)
c.3185G>A (p.Gly1062Glu)
c.*1743G>A (n.*1743G>A)
c.3368-6G>A (n.3368-6G>A)
c.*3192G>A (n.*3192G>A)
c.2942G>A (p.Gly981Glu)
c.116G>A (p.Gly39Glu)
c.959G>A (p.Gly320Glu)
c.1018G>A
c.2150G>A (p.Gly717Glu)
c.3278G>A (p.Gly1093Glu)
c.193G>A
c.3458G>A (p.Gly1153Glu)
c.3125G>A (p.Gly1042Glu)
7g.117614613G>CCA368993246CFTRc.3368G>C (p.Gly1123Ala)
c.*3082G>C (n.*3082G>C)
c.3185G>C (p.Gly1062Ala)
c.*1743G>C (n.*1743G>C)
c.3368-6G>C (n.3368-6G>C)
c.*3192G>C (n.*3192G>C)
c.2942G>C (p.Gly981Ala)
c.116G>C (p.Gly39Ala)
c.959G>C (p.Gly320Ala)
c.1018G>C
c.2150G>C (p.Gly717Ala)
c.3278G>C (p.Gly1093Ala)
c.193G>C
c.3458G>C (p.Gly1153Ala)
c.3125G>C (p.Gly1042Ala)
7g.117614613G>TCA368993248CFTRc.3368G>T (p.Gly1123Val)
c.*3082G>T (n.*3082G>T)
c.3185G>T (p.Gly1062Val)
c.*1743G>T (n.*1743G>T)
c.3368-6G>T (n.3368-6G>T)
c.*3192G>T (n.*3192G>T)
c.2942G>T (p.Gly981Val)
c.116G>T (p.Gly39Val)
c.959G>T (p.Gly320Val)
c.1018G>T
c.2150G>T (p.Gly717Val)
c.3278G>T (p.Gly1093Val)
c.193G>T
c.3458G>T (p.Gly1153Val)
c.3125G>T (p.Gly1042Val)
 gnomAD v4
7g.117614613_117614616delinsGAGACA1737391935CFTRc.3368_3371delinsGAGA (p.Gly1123=)
c.*3082_*3085delinsGAGA (n.*3082_*3085delinsGAGA)
c.3185_3188delinsGAGA (p.Gly1062=)
c.*1743_*1746delinsGAGA (n.*1743_*1746delinsGAGA)
c.3368-6_3368-3delinsGAGA (n.3368-6_3368-3delinsGAGA)
c.*3192_*3195delinsGAGA (n.*3192_*3195delinsGAGA)
c.2942_2945delinsGAGA (p.Gly981=)
c.116_119delinsGAGA (p.Gly39=)
c.959_962delinsGAGA (p.Gly320=)
c.1018_1021delinsGAGA
c.2150_2153delinsGAGA (p.Gly717=)
c.3278_3281delinsGAGA (p.Gly1093=)
c.193_196delinsGAGA
c.3458_3461delinsGAGA (p.Gly1153=)
c.3125_3128delinsGAGA (p.Gly1042=)
7g.117614614A>CCA457230148CFTRc.3369A>C (p.Gly1123=)
c.*3083A>C (n.*3083A>C)
c.3186A>C (p.Gly1062=)
c.*1744A>C (n.*1744A>C)
c.3368-5A>C (n.3368-5A>C)
c.*3193A>C (n.*3193A>C)
c.2943A>C (p.Gly981=)
c.117A>C (p.Gly39=)
c.960A>C (p.Gly320=)
c.1019A>C
c.2151A>C (p.Gly717=)
c.3279A>C (p.Gly1093=)
c.194A>C
c.3459A>C (p.Gly1153=)
c.3126A>C (p.Gly1042=)
7g.117614614A>GCA457230147CFTRc.3369A>G (p.Gly1123=)
c.*3083A>G (n.*3083A>G)
c.3186A>G (p.Gly1062=)
c.*1744A>G (n.*1744A>G)
c.3368-5A>G (n.3368-5A>G)
c.*3193A>G (n.*3193A>G)
c.2943A>G (p.Gly981=)
c.117A>G (p.Gly39=)
c.960A>G (p.Gly320=)
c.1019A>G
c.2151A>G (p.Gly717=)
c.3279A>G (p.Gly1093=)
c.194A>G
c.3459A>G (p.Gly1153=)
c.3126A>G (p.Gly1042=)
 gnomAD v4
7g.117614614A>TCA457230146CFTRc.3369A>T (p.Gly1123=)
c.*3083A>T (n.*3083A>T)
c.3186A>T (p.Gly1062=)
c.*1744A>T (n.*1744A>T)
c.3368-5A>T (n.3368-5A>T)
c.*3193A>T (n.*3193A>T)
c.2943A>T (p.Gly981=)
c.117A>T (p.Gly39=)
c.960A>T (p.Gly320=)
c.1019A>T
c.2151A>T (p.Gly717=)
c.3279A>T (p.Gly1093=)
c.194A>T
c.3459A>T (p.Gly1153=)
c.3126A>T (p.Gly1042=)
7g.117614616_117614618delCA327160CFTRc.3371_3373del (p.Glu1124del)
c.*3085_*3087del (n.*3085_*3087del)
c.3188_3190del (p.Glu1063del)
c.*1746_*1748del (n.*1746_*1748del)
c.3368-3_3368-1del (n.3368-3_3368-1del)
c.*3195_*3197del (n.*3195_*3197del)
c.2945_2947del (p.Glu982del)
c.119_121del (p.Glu40del)
c.962_964del (p.Glu321del)
c.1021_1023del
c.2153_2155del (p.Glu718del)
c.3281_3283del (p.Glu1094del)
c.196_198del
c.3461_3463del (p.Glu1154del)
c.3128_3130del (p.Glu1043del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614615G>ACA164968730CFTRc.3370G>A (p.Glu1124Lys)
c.*3084G>A (n.*3084G>A)
c.3187G>A (p.Glu1063Lys)
c.*1745G>A (n.*1745G>A)
c.3368-4G>A (n.3368-4G>A)
c.*3194G>A (n.*3194G>A)
c.2944G>A (p.Glu982Lys)
c.118G>A (p.Glu40Lys)
c.961G>A (p.Glu321Lys)
c.1020G>A
c.2152G>A (p.Glu718Lys)
c.3280G>A (p.Glu1094Lys)
c.195G>A
c.3460G>A (p.Glu1154Lys)
c.3127G>A (p.Glu1043Lys)
 dbSNP gnomAD v3 gnomAD v4
7g.117614615G>CCA368993257CFTRc.3370G>C (p.Glu1124Gln)
c.*3084G>C (n.*3084G>C)
c.3187G>C (p.Glu1063Gln)
c.*1745G>C (n.*1745G>C)
c.3368-4G>C (n.3368-4G>C)
c.*3194G>C (n.*3194G>C)
c.2944G>C (p.Glu982Gln)
c.118G>C (p.Glu40Gln)
c.961G>C (p.Glu321Gln)
c.1020G>C
c.2152G>C (p.Glu718Gln)
c.3280G>C (p.Glu1094Gln)
c.195G>C
c.3460G>C (p.Glu1154Gln)
c.3127G>C (p.Glu1043Gln)
7g.117614615G=CA1737391942CFTRc.3370G= (p.Glu1124=)
c.*3084G= (n.*3084G=)
c.3187G= (p.Glu1063=)
c.*1745G= (n.*1745G=)
c.3368-4G= (n.3368-4G=)
c.*3194G= (n.*3194G=)
c.2944G= (p.Glu982=)
c.118G= (p.Glu40=)
c.961G= (p.Glu321=)
c.1020G=
c.2152G= (p.Glu718=)
c.3280G= (p.Glu1094=)
c.195G=
c.3460G= (p.Glu1154=)
c.3127G= (p.Glu1043=)
7g.117614615G>TCA368993254CFTRc.3370G>T (p.Glu1124Ter)
c.*3084G>T (n.*3084G>T)
c.3187G>T (p.Glu1063Ter)
c.*1745G>T (n.*1745G>T)
c.3368-4G>T (n.3368-4G>T)
c.*3194G>T (n.*3194G>T)
c.2944G>T (p.Glu982Ter)
c.118G>T (p.Glu40Ter)
c.961G>T (p.Glu321Ter)
c.1020G>T
c.2152G>T (p.Glu718Ter)
c.3280G>T (p.Glu1094Ter)
c.195G>T
c.3460G>T (p.Glu1154Ter)
c.3127G>T (p.Glu1043Ter)
7g.117614616A>CCA368993261CFTRc.3371A>C (p.Glu1124Ala)
c.*3085A>C (n.*3085A>C)
c.3188A>C (p.Glu1063Ala)
c.*1746A>C (n.*1746A>C)
c.3368-3A>C (n.3368-3A>C)
c.*3195A>C (n.*3195A>C)
c.2945A>C (p.Glu982Ala)
c.119A>C (p.Glu40Ala)
c.962A>C (p.Glu321Ala)
c.1021A>C
c.2153A>C (p.Glu718Ala)
c.3281A>C (p.Glu1094Ala)
c.196A>C
c.3461A>C (p.Glu1154Ala)
c.3128A>C (p.Glu1043Ala)
7g.117614616A>GCA368993263CFTRc.3371A>G (p.Glu1124Gly)
c.*3085A>G (n.*3085A>G)
c.3188A>G (p.Glu1063Gly)
c.*1746A>G (n.*1746A>G)
c.3368-3A>G (n.3368-3A>G)
c.*3195A>G (n.*3195A>G)
c.2945A>G (p.Glu982Gly)
c.119A>G (p.Glu40Gly)
c.962A>G (p.Glu321Gly)
c.1021A>G
c.2153A>G (p.Glu718Gly)
c.3281A>G (p.Glu1094Gly)
c.196A>G
c.3461A>G (p.Glu1154Gly)
c.3128A>G (p.Glu1043Gly)
7g.117614616A>TCA368993265CFTRc.3371A>T (p.Glu1124Val)
c.*3085A>T (n.*3085A>T)
c.3188A>T (p.Glu1063Val)
c.*1746A>T (n.*1746A>T)
c.3368-3A>T (n.3368-3A>T)
c.*3195A>T (n.*3195A>T)
c.2945A>T (p.Glu982Val)
c.119A>T (p.Glu40Val)
c.962A>T (p.Glu321Val)
c.1021A>T
c.2153A>T (p.Glu718Val)
c.3281A>T (p.Glu1094Val)
c.196A>T
c.3461A>T (p.Glu1154Val)
c.3128A>T (p.Glu1043Val)
7g.117614617A>CCA368993266CFTRc.3372A>C (p.Glu1124Asp)
c.*3086A>C (n.*3086A>C)
c.3189A>C (p.Glu1063Asp)
c.*1747A>C (n.*1747A>C)
c.3368-2A>C (n.3368-2A>C)
c.*3196A>C (n.*3196A>C)
c.2946A>C (p.Glu982Asp)
c.120A>C (p.Glu40Asp)
c.963A>C (p.Glu321Asp)
c.1022A>C
c.2154A>C (p.Glu718Asp)
c.3282A>C (p.Glu1094Asp)
c.197A>C
c.3462A>C (p.Glu1154Asp)
c.3129A>C (p.Glu1043Asp)
7g.117614617A>GCA457230149CFTRc.3372A>G (p.Glu1124=)
c.*3086A>G (n.*3086A>G)
c.3189A>G (p.Glu1063=)
c.*1747A>G (n.*1747A>G)
c.3368-2A>G (n.3368-2A>G)
c.*3196A>G (n.*3196A>G)
c.2946A>G (p.Glu982=)
c.120A>G (p.Glu40=)
c.963A>G (p.Glu321=)
c.1022A>G
c.2154A>G (p.Glu718=)
c.3282A>G (p.Glu1094=)
c.197A>G
c.3462A>G (p.Glu1154=)
c.3129A>G (p.Glu1043=)
 ClinVar gnomAD v4
7g.117614617A>TCA368993268CFTRc.3372A>T (p.Glu1124Asp)
c.*3086A>T (n.*3086A>T)
c.3189A>T (p.Glu1063Asp)
c.*1747A>T (n.*1747A>T)
c.3368-2A>T (n.3368-2A>T)
c.*3196A>T (n.*3196A>T)
c.2946A>T (p.Glu982Asp)
c.120A>T (p.Glu40Asp)
c.963A>T (p.Glu321Asp)
c.1022A>T
c.2154A>T (p.Glu718Asp)
c.3282A>T (p.Glu1094Asp)
c.197A>T
c.3462A>T (p.Glu1154Asp)
c.3129A>T (p.Glu1043Asp)
7g.117614619_117614621delCA2684619891CFTRc.3374_3376del (p.Gly1125del)
c.*3088_*3090del (n.*3088_*3090del)
c.3191_3193del (p.Gly1064del)
c.*1749_*1751del (n.*1749_*1751del)
c.3368_3370del
c.*3198_*3200del (n.*3198_*3200del)
c.2948_2950del (p.Gly983del)
c.122_124del (p.Gly41del)
c.965_967del (p.Gly322del)
c.1024_1026del
c.2156_2158del (p.Gly719del)
c.3284_3286del (p.Gly1095del)
c.199_201del
c.3464_3466del (p.Gly1155del)
c.3131_3133del (p.Gly1044del)
 gnomAD v4
7g.117614618G>ACA368993271CFTRc.3373G>A (p.Gly1125Arg)
c.*3087G>A (n.*3087G>A)
c.3190G>A (p.Gly1064Arg)
c.*1748G>A (n.*1748G>A)
c.3368-1G>A (n.3368-1G>A)
c.*3197G>A (n.*3197G>A)
c.2947G>A (p.Gly983Arg)
c.121G>A (p.Gly41Arg)
c.964G>A (p.Gly322Arg)
c.1023G>A
c.2155G>A (p.Gly719Arg)
c.3283G>A (p.Gly1095Arg)
c.198G>A
c.3463G>A (p.Gly1155Arg)
c.3130G>A (p.Gly1044Arg)
7g.117614618G>CCA368993273CFTRc.3373G>C (p.Gly1125Arg)
c.*3087G>C (n.*3087G>C)
c.3190G>C (p.Gly1064Arg)
c.*1748G>C (n.*1748G>C)
c.3368-1G>C (n.3368-1G>C)
c.*3197G>C (n.*3197G>C)
c.2947G>C (p.Gly983Arg)
c.121G>C (p.Gly41Arg)
c.964G>C (p.Gly322Arg)
c.1023G>C
c.2155G>C (p.Gly719Arg)
c.3283G>C (p.Gly1095Arg)
c.198G>C
c.3463G>C (p.Gly1155Arg)
c.3130G>C (p.Gly1044Arg)
7g.117614618G>TCA368993275CFTRc.3373G>T (p.Gly1125Ter)
c.*3087G>T (n.*3087G>T)
c.3190G>T (p.Gly1064Ter)
c.*1748G>T (n.*1748G>T)
c.3368-1G>T (n.3368-1G>T)
c.*3197G>T (n.*3197G>T)
c.2947G>T (p.Gly983Ter)
c.121G>T (p.Gly41Ter)
c.964G>T (p.Gly322Ter)
c.1023G>T
c.2155G>T (p.Gly719Ter)
c.3283G>T (p.Gly1095Ter)
c.198G>T
c.3463G>T (p.Gly1155Ter)
c.3130G>T (p.Gly1044Ter)
7g.117614619G>ACA368993278CFTRc.3374G>A (p.Gly1125Glu)
c.*3088G>A (n.*3088G>A)
c.3191G>A (p.Gly1064Glu)
c.*1749G>A (n.*1749G>A)
c.3368G>A (p.Gly1123Glu)
c.*3198G>A (n.*3198G>A)
c.2948G>A (p.Gly983Glu)
c.122G>A (p.Gly41Glu)
c.965G>A (p.Gly322Glu)
c.1024G>A
c.2156G>A (p.Gly719Glu)
c.3284G>A (p.Gly1095Glu)
c.199G>A
c.3464G>A (p.Gly1155Glu)
c.3131G>A (p.Gly1044Glu)
 ClinVar
7g.117614619G>CCA368993279CFTRc.3374G>C (p.Gly1125Ala)
c.*3088G>C (n.*3088G>C)
c.3191G>C (p.Gly1064Ala)
c.*1749G>C (n.*1749G>C)
c.3368G>C (p.Gly1123Ala)
c.*3198G>C (n.*3198G>C)
c.2948G>C (p.Gly983Ala)
c.122G>C (p.Gly41Ala)
c.965G>C (p.Gly322Ala)
c.1024G>C
c.2156G>C (p.Gly719Ala)
c.3284G>C (p.Gly1095Ala)
c.199G>C
c.3464G>C (p.Gly1155Ala)
c.3131G>C (p.Gly1044Ala)
 dbSNP
7g.117614619G=CA1737391948CFTRc.3374G= (p.Gly1125=)
c.*3088G= (n.*3088G=)
c.3191G= (p.Gly1064=)
c.*1749G= (n.*1749G=)
c.3368G= (p.Gly1123=)
c.*3198G= (n.*3198G=)
c.2948G= (p.Gly983=)
c.122G= (p.Gly41=)
c.965G= (p.Gly322=)
c.1024G=
c.2156G= (p.Gly719=)
c.3284G= (p.Gly1095=)
c.199G=
c.3464G= (p.Gly1155=)
c.3131G= (p.Gly1044=)
7g.117614619G>TCA368993282CFTRc.3374G>T (p.Gly1125Val)
c.*3088G>T (n.*3088G>T)
c.3191G>T (p.Gly1064Val)
c.*1749G>T (n.*1749G>T)
c.3368G>T (p.Gly1123Val)
c.*3198G>T (n.*3198G>T)
c.2948G>T (p.Gly983Val)
c.122G>T (p.Gly41Val)
c.965G>T (p.Gly322Val)
c.1024G>T
c.2156G>T (p.Gly719Val)
c.3284G>T (p.Gly1095Val)
c.199G>T
c.3464G>T (p.Gly1155Val)
c.3131G>T (p.Gly1044Val)
7g.117614620A=CA1737391952CFTRc.3375A= (p.Gly1125=)
c.*3089A= (n.*3089A=)
c.3192A= (p.Gly1064=)
c.*1750A= (n.*1750A=)
c.3369A= (p.Gly1123=)
c.*3199A= (n.*3199A=)
c.2949A= (p.Gly983=)
c.123A= (p.Gly41=)
c.966A= (p.Gly322=)
c.1025A=
c.2157A= (p.Gly719=)
c.3285A= (p.Gly1095=)
c.200A=
c.3465A= (p.Gly1155=)
c.3132A= (p.Gly1044=)
7g.117614620A>CCA457230151CFTRc.3375A>C (p.Gly1125=)
c.*3089A>C (n.*3089A>C)
c.3192A>C (p.Gly1064=)
c.*1750A>C (n.*1750A>C)
c.3369A>C (p.Gly1123=)
c.*3199A>C (n.*3199A>C)
c.2949A>C (p.Gly983=)
c.123A>C (p.Gly41=)
c.966A>C (p.Gly322=)
c.1025A>C
c.2157A>C (p.Gly719=)
c.3285A>C (p.Gly1095=)
c.200A>C
c.3465A>C (p.Gly1155=)
c.3132A>C (p.Gly1044=)
 ClinVar dbSNP
7g.117614620A>GCA4451452CFTRc.3375A>G (p.Gly1125=)
c.*3089A>G (n.*3089A>G)
c.3192A>G (p.Gly1064=)
c.*1750A>G (n.*1750A>G)
c.3369A>G (p.Gly1123=)
c.*3199A>G (n.*3199A>G)
c.2949A>G (p.Gly983=)
c.123A>G (p.Gly41=)
c.966A>G (p.Gly322=)
c.1025A>G
c.2157A>G (p.Gly719=)
c.3285A>G (p.Gly1095=)
c.200A>G
c.3465A>G (p.Gly1155=)
c.3132A>G (p.Gly1044=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614620A>TCA457230150CFTRc.3375A>T (p.Gly1125=)
c.*3089A>T (n.*3089A>T)
c.3192A>T (p.Gly1064=)
c.*1750A>T (n.*1750A>T)
c.3369A>T (p.Gly1123=)
c.*3199A>T (n.*3199A>T)
c.2949A>T (p.Gly983=)
c.123A>T (p.Gly41=)
c.966A>T (p.Gly322=)
c.1025A>T
c.2157A>T (p.Gly719=)
c.3285A>T (p.Gly1095=)
c.200A>T
c.3465A>T (p.Gly1155=)
c.3132A>T (p.Gly1044=)
7g.117614620_117614624delinsAGAAGCA1737391950CFTRc.3375_3379delinsAGAAG (p.Gly1125=)
c.*3089_*3093delinsAGAAG (n.*3089_*3093delinsAGAAG)
c.3192_3196delinsAGAAG (p.Gly1064=)
c.*1750_*1754delinsAGAAG (n.*1750_*1754delinsAGAAG)
c.3369_3373delinsAGAAG (p.Gly1123=)
c.*3199_*3203delinsAGAAG (n.*3199_*3203delinsAGAAG)
c.2949_2953delinsAGAAG (p.Gly983=)
c.123_127delinsAGAAG (p.Gly41=)
c.966_970delinsAGAAG (p.Gly322=)
c.1025_1029delinsAGAAG
c.2157_2161delinsAGAAG (p.Gly719=)
c.3285_3289delinsAGAAG (p.Gly1095=)
c.200_204delinsAGAAG
c.3465_3469delinsAGAAG (p.Gly1155=)
c.3132_3136delinsAGAAG (p.Gly1044=)
7g.117614621G>ACA368993291CFTRc.3376G>A (p.Glu1126Lys)
c.*3090G>A (n.*3090G>A)
c.3193G>A (p.Glu1065Lys)
c.*1751G>A (n.*1751G>A)
c.3370G>A (p.Glu1124Lys)
c.*3200G>A (n.*3200G>A)
c.2950G>A (p.Glu984Lys)
c.124G>A (p.Glu42Lys)
c.967G>A (p.Glu323Lys)
c.1026G>A
c.2158G>A (p.Glu720Lys)
c.3286G>A (p.Glu1096Lys)
c.201G>A
c.3466G>A (p.Glu1156Lys)
c.3133G>A (p.Glu1045Lys)
7g.117614621G>CCA368993288CFTRc.3376G>C (p.Glu1126Gln)
c.*3090G>C (n.*3090G>C)
c.3193G>C (p.Glu1065Gln)
c.*1751G>C (n.*1751G>C)
c.3370G>C (p.Glu1124Gln)
c.*3200G>C (n.*3200G>C)
c.2950G>C (p.Glu984Gln)
c.124G>C (p.Glu42Gln)
c.967G>C (p.Glu323Gln)
c.1026G>C
c.2158G>C (p.Glu720Gln)
c.3286G>C (p.Glu1096Gln)
c.201G>C
c.3466G>C (p.Glu1156Gln)
c.3133G>C (p.Glu1045Gln)
7g.117614621G>TCA368993287CFTRc.3376G>T (p.Glu1126Ter)
c.*3090G>T (n.*3090G>T)
c.3193G>T (p.Glu1065Ter)
c.*1751G>T (n.*1751G>T)
c.3370G>T (p.Glu1124Ter)
c.*3200G>T (n.*3200G>T)
c.2950G>T (p.Glu984Ter)
c.124G>T (p.Glu42Ter)
c.967G>T (p.Glu323Ter)
c.1026G>T
c.2158G>T (p.Glu720Ter)
c.3286G>T (p.Glu1096Ter)
c.201G>T
c.3466G>T (p.Glu1156Ter)
c.3133G>T (p.Glu1045Ter)
7g.117614625_117614628delCA577222848CFTRc.3380_3383del (p.Gly1127GlufsTer6)
c.*3094_*3097del (n.*3094_*3097del)
c.3197_3200del (p.Gly1066GlufsTer6)
c.*1755_*1758del (n.*1755_*1758del)
c.3374_3377del (p.Gly1125GlufsTer6)
c.*3204_*3207del (n.*3204_*3207del)
c.2954_2957del (p.Gly985GlufsTer6)
c.128_131del (p.Gly43GlufsTer6)
c.971_974del (p.Gly324GlufsTer6)
c.1030_1033del
c.2162_2165del (p.Gly721GlufsTer6)
c.3290_3293del (p.Gly1097GlufsTer6)
c.205_208del
c.3470_3473del (p.Gly1157GlufsTer6)
c.3137_3140del (p.Gly1046GlufsTer6)
 dbSNP gnomAD v2 gnomAD v4
7g.117614622A>CCA368993299CFTRc.3377A>C (p.Glu1126Ala)
c.*3091A>C (n.*3091A>C)
c.3194A>C (p.Glu1065Ala)
c.*1752A>C (n.*1752A>C)
c.3371A>C (p.Glu1124Ala)
c.*3201A>C (n.*3201A>C)
c.2951A>C (p.Glu984Ala)
c.125A>C (p.Glu42Ala)
c.968A>C (p.Glu323Ala)
c.1027A>C
c.2159A>C (p.Glu720Ala)
c.3287A>C (p.Glu1096Ala)
c.202A>C
c.3467A>C (p.Glu1156Ala)
c.3134A>C (p.Glu1045Ala)
7g.117614622A>GCA368993294CFTRc.3377A>G (p.Glu1126Gly)
c.*3091A>G (n.*3091A>G)
c.3194A>G (p.Glu1065Gly)
c.*1752A>G (n.*1752A>G)
c.3371A>G (p.Glu1124Gly)
c.*3201A>G (n.*3201A>G)
c.2951A>G (p.Glu984Gly)
c.125A>G (p.Glu42Gly)
c.968A>G (p.Glu323Gly)
c.1027A>G
c.2159A>G (p.Glu720Gly)
c.3287A>G (p.Glu1096Gly)
c.202A>G
c.3467A>G (p.Glu1156Gly)
c.3134A>G (p.Glu1045Gly)
7g.117614622A>TCA368993296CFTRc.3377A>T (p.Glu1126Val)
c.*3091A>T (n.*3091A>T)
c.3194A>T (p.Glu1065Val)
c.*1752A>T (n.*1752A>T)
c.3371A>T (p.Glu1124Val)
c.*3201A>T (n.*3201A>T)
c.2951A>T (p.Glu984Val)
c.125A>T (p.Glu42Val)
c.968A>T (p.Glu323Val)
c.1027A>T
c.2159A>T (p.Glu720Val)
c.3287A>T (p.Glu1096Val)
c.202A>T
c.3467A>T (p.Glu1156Val)
c.3134A>T (p.Glu1045Val)
7g.117614623A>CCA368993302CFTRc.3378A>C (p.Glu1126Asp)
c.*3092A>C (n.*3092A>C)
c.3195A>C (p.Glu1065Asp)
c.*1753A>C (n.*1753A>C)
c.3372A>C (p.Glu1124Asp)
c.*3202A>C (n.*3202A>C)
c.2952A>C (p.Glu984Asp)
c.126A>C (p.Glu42Asp)
c.969A>C (p.Glu323Asp)
c.1028A>C
c.2160A>C (p.Glu720Asp)
c.3288A>C (p.Glu1096Asp)
c.203A>C
c.3468A>C (p.Glu1156Asp)
c.3135A>C (p.Glu1045Asp)
7g.117614623A>GCA457230152CFTRc.3378A>G (p.Glu1126=)
c.*3092A>G (n.*3092A>G)
c.3195A>G (p.Glu1065=)
c.*1753A>G (n.*1753A>G)
c.3372A>G (p.Glu1124=)
c.*3202A>G (n.*3202A>G)
c.2952A>G (p.Glu984=)
c.126A>G (p.Glu42=)
c.969A>G (p.Glu323=)
c.1028A>G
c.2160A>G (p.Glu720=)
c.3288A>G (p.Glu1096=)
c.203A>G
c.3468A>G (p.Glu1156=)
c.3135A>G (p.Glu1045=)
7g.117614623A>TCA368993303CFTRc.3378A>T (p.Glu1126Asp)
c.*3092A>T (n.*3092A>T)
c.3195A>T (p.Glu1065Asp)
c.*1753A>T (n.*1753A>T)
c.3372A>T (p.Glu1124Asp)
c.*3202A>T (n.*3202A>T)
c.2952A>T (p.Glu984Asp)
c.126A>T (p.Glu42Asp)
c.969A>T (p.Glu323Asp)
c.1028A>T
c.2160A>T (p.Glu720Asp)
c.3288A>T (p.Glu1096Asp)
c.203A>T
c.3468A>T (p.Glu1156Asp)
c.3135A>T (p.Glu1045Asp)
7g.117614624G>ACA368993307CFTRc.3379G>A (p.Gly1127Arg)
c.*3093G>A (n.*3093G>A)
c.3196G>A (p.Gly1066Arg)
c.*1754G>A (n.*1754G>A)
c.3373G>A (p.Gly1125Arg)
c.*3203G>A (n.*3203G>A)
c.2953G>A (p.Gly985Arg)
c.127G>A (p.Gly43Arg)
c.970G>A (p.Gly324Arg)
c.1029G>A
c.2161G>A (p.Gly721Arg)
c.3289G>A (p.Gly1097Arg)
c.204G>A
c.3469G>A (p.Gly1157Arg)
c.3136G>A (p.Gly1046Arg)
 COSMIC
7g.117614624G>CCA368993309CFTRc.3379G>C (p.Gly1127Arg)
c.*3093G>C (n.*3093G>C)
c.3196G>C (p.Gly1066Arg)
c.*1754G>C (n.*1754G>C)
c.3373G>C (p.Gly1125Arg)
c.*3203G>C (n.*3203G>C)
c.2953G>C (p.Gly985Arg)
c.127G>C (p.Gly43Arg)
c.970G>C (p.Gly324Arg)
c.1029G>C
c.2161G>C (p.Gly721Arg)
c.3289G>C (p.Gly1097Arg)
c.204G>C
c.3469G>C (p.Gly1157Arg)
c.3136G>C (p.Gly1046Arg)
7g.117614624G>TCA368993311CFTRc.3379G>T (p.Gly1127Ter)
c.*3093G>T (n.*3093G>T)
c.3196G>T (p.Gly1066Ter)
c.*1754G>T (n.*1754G>T)
c.3373G>T (p.Gly1125Ter)
c.*3203G>T (n.*3203G>T)
c.2953G>T (p.Gly985Ter)
c.127G>T (p.Gly43Ter)
c.970G>T (p.Gly324Ter)
c.1029G>T
c.2161G>T (p.Gly721Ter)
c.3289G>T (p.Gly1097Ter)
c.204G>T
c.3469G>T (p.Gly1157Ter)
c.3136G>T (p.Gly1046Ter)
7g.117614625G>ACA368993314CFTRc.3380G>A (p.Gly1127Glu)
c.*3094G>A (n.*3094G>A)
c.3197G>A (p.Gly1066Glu)
c.*1755G>A (n.*1755G>A)
c.3374G>A (p.Gly1125Glu)
c.*3204G>A (n.*3204G>A)
c.2954G>A (p.Gly985Glu)
c.128G>A (p.Gly43Glu)
c.971G>A (p.Gly324Glu)
c.1030G>A
c.2162G>A (p.Gly721Glu)
c.3290G>A (p.Gly1097Glu)
c.205G>A
c.3470G>A (p.Gly1157Glu)
c.3137G>A (p.Gly1046Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.117614625G>CCA368993316CFTRc.3380G>C (p.Gly1127Ala)
c.*3094G>C (n.*3094G>C)
c.3197G>C (p.Gly1066Ala)
c.*1755G>C (n.*1755G>C)
c.3374G>C (p.Gly1125Ala)
c.*3204G>C (n.*3204G>C)
c.2954G>C (p.Gly985Ala)
c.128G>C (p.Gly43Ala)
c.971G>C (p.Gly324Ala)
c.1030G>C
c.2162G>C (p.Gly721Ala)
c.3290G>C (p.Gly1097Ala)
c.205G>C
c.3470G>C (p.Gly1157Ala)
c.3137G>C (p.Gly1046Ala)
 COSMIC
7g.117614625G=CA1737391957CFTRc.3380G= (p.Gly1127=)
c.*3094G= (n.*3094G=)
c.3197G= (p.Gly1066=)
c.*1755G= (n.*1755G=)
c.3374G= (p.Gly1125=)
c.*3204G= (n.*3204G=)
c.2954G= (p.Gly985=)
c.128G= (p.Gly43=)
c.971G= (p.Gly324=)
c.1030G=
c.2162G= (p.Gly721=)
c.3290G= (p.Gly1097=)
c.205G=
c.3470G= (p.Gly1157=)
c.3137G= (p.Gly1046=)
7g.117614625G>TCA368993318CFTRc.3380G>T (p.Gly1127Val)
c.*3094G>T (n.*3094G>T)
c.3197G>T (p.Gly1066Val)
c.*1755G>T (n.*1755G>T)
c.3374G>T (p.Gly1125Val)
c.*3204G>T (n.*3204G>T)
c.2954G>T (p.Gly985Val)
c.128G>T (p.Gly43Val)
c.971G>T (p.Gly324Val)
c.1030G>T
c.2162G>T (p.Gly721Val)
c.3290G>T (p.Gly1097Val)
c.205G>T
c.3470G>T (p.Gly1157Val)
c.3137G>T (p.Gly1046Val)
7g.117614626A>CCA457230153CFTRc.3381A>C (p.Gly1127=)
c.*3095A>C (n.*3095A>C)
c.3198A>C (p.Gly1066=)
c.*1756A>C (n.*1756A>C)
c.3375A>C (p.Gly1125=)
c.*3205A>C (n.*3205A>C)
c.2955A>C (p.Gly985=)
c.129A>C (p.Gly43=)
c.972A>C (p.Gly324=)
c.1031A>C
c.2163A>C (p.Gly721=)
c.3291A>C (p.Gly1097=)
c.206A>C
c.3471A>C (p.Gly1157=)
c.3138A>C (p.Gly1046=)
7g.117614626A>GCA457230155CFTRc.3381A>G (p.Gly1127=)
c.*3095A>G (n.*3095A>G)
c.3198A>G (p.Gly1066=)
c.*1756A>G (n.*1756A>G)
c.3375A>G (p.Gly1125=)
c.*3205A>G (n.*3205A>G)
c.2955A>G (p.Gly985=)
c.129A>G (p.Gly43=)
c.972A>G (p.Gly324=)
c.1031A>G
c.2163A>G (p.Gly721=)
c.3291A>G (p.Gly1097=)
c.206A>G
c.3471A>G (p.Gly1157=)
c.3138A>G (p.Gly1046=)
7g.117614626A>TCA457230154CFTRc.3381A>T (p.Gly1127=)
c.*3095A>T (n.*3095A>T)
c.3198A>T (p.Gly1066=)
c.*1756A>T (n.*1756A>T)
c.3375A>T (p.Gly1125=)
c.*3205A>T (n.*3205A>T)
c.2955A>T (p.Gly985=)
c.129A>T (p.Gly43=)
c.972A>T (p.Gly324=)
c.1031A>T
c.2163A>T (p.Gly721=)
c.3291A>T (p.Gly1097=)
c.206A>T
c.3471A>T (p.Gly1157=)
c.3138A>T (p.Gly1046=)
7g.117614627A=CA1737391966CFTRc.3382A= (p.Arg1128=)
c.*3096A= (n.*3096A=)
c.3199A= (p.Arg1067=)
c.*1757A= (n.*1757A=)
c.3376A= (p.Arg1126=)
c.*3206A= (n.*3206A=)
c.2956A= (p.Arg986=)
c.130A= (p.Arg44=)
c.973A= (p.Arg325=)
c.1032A=
c.2164A= (p.Arg722=)
c.3292A= (p.Arg1098=)
c.207A=
c.3472A= (p.Arg1158=)
c.3139A= (p.Arg1047=)
7g.117614627A>CCA457230156CFTRc.3382A>C (p.Arg1128=)
c.*3096A>C (n.*3096A>C)
c.3199A>C (p.Arg1067=)
c.*1757A>C (n.*1757A>C)
c.3376A>C (p.Arg1126=)
c.*3206A>C (n.*3206A>C)
c.2956A>C (p.Arg986=)
c.130A>C (p.Arg44=)
c.973A>C (p.Arg325=)
c.1032A>C
c.2164A>C (p.Arg722=)
c.3292A>C (p.Arg1098=)
c.207A>C
c.3472A>C (p.Arg1158=)
c.3139A>C (p.Arg1047=)
 gnomAD v4
7g.117614627A>GCA10606586CFTRc.3382A>G (p.Arg1128Gly)
c.*3096A>G (n.*3096A>G)
c.3199A>G (p.Arg1067Gly)
c.*1757A>G (n.*1757A>G)
c.3376A>G (p.Arg1126Gly)
c.*3206A>G (n.*3206A>G)
c.2956A>G (p.Arg986Gly)
c.130A>G (p.Arg44Gly)
c.973A>G (p.Arg325Gly)
c.1032A>G
c.2164A>G (p.Arg722Gly)
c.3292A>G (p.Arg1098Gly)
c.207A>G
c.3472A>G (p.Arg1158Gly)
c.3139A>G (p.Arg1047Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117614627A>TCA327162CFTRc.3382A>T (p.Arg1128Ter)
c.*3096A>T (n.*3096A>T)
c.3199A>T (p.Arg1067Ter)
c.*1757A>T (n.*1757A>T)
c.3376A>T (p.Arg1126Ter)
c.*3206A>T (n.*3206A>T)
c.2956A>T (p.Arg986Ter)
c.130A>T (p.Arg44Ter)
c.973A>T (p.Arg325Ter)
c.1032A>T
c.2164A>T (p.Arg722Ter)
c.3292A>T (p.Arg1098Ter)
c.207A>T
c.3472A>T (p.Arg1158Ter)
c.3139A>T (p.Arg1047Ter)
 ClinVar dbSNP gnomAD v4
7g.117614628G>ACA368993326CFTRc.3383G>A (p.Arg1128Lys)
c.*3097G>A (n.*3097G>A)
c.3200G>A (p.Arg1067Lys)
c.*1758G>A (n.*1758G>A)
c.3377G>A (p.Arg1126Lys)
c.*3207G>A (n.*3207G>A)
c.2957G>A (p.Arg986Lys)
c.131G>A (p.Arg44Lys)
c.974G>A (p.Arg325Lys)
c.1033G>A
c.2165G>A (p.Arg722Lys)
c.3293G>A (p.Arg1098Lys)
c.208G>A
c.3473G>A (p.Arg1158Lys)
c.3140G>A (p.Arg1047Lys)
 dbSNP
7g.117614628G>CCA368993329CFTRc.3383G>C (p.Arg1128Thr)
c.*3097G>C (n.*3097G>C)
c.3200G>C (p.Arg1067Thr)
c.*1758G>C (n.*1758G>C)
c.3377G>C (p.Arg1126Thr)
c.*3207G>C (n.*3207G>C)
c.2957G>C (p.Arg986Thr)
c.131G>C (p.Arg44Thr)
c.974G>C (p.Arg325Thr)
c.1033G>C
c.2165G>C (p.Arg722Thr)
c.3293G>C (p.Arg1098Thr)
c.208G>C
c.3473G>C (p.Arg1158Thr)
c.3140G>C (p.Arg1047Thr)
 gnomAD v4
7g.117614628G=CA1737391972CFTRc.3383G= (p.Arg1128=)
c.*3097G= (n.*3097G=)
c.3200G= (p.Arg1067=)
c.*1758G= (n.*1758G=)
c.3377G= (p.Arg1126=)
c.*3207G= (n.*3207G=)
c.2957G= (p.Arg986=)
c.131G= (p.Arg44=)
c.974G= (p.Arg325=)
c.1033G=
c.2165G= (p.Arg722=)
c.3293G= (p.Arg1098=)
c.208G=
c.3473G= (p.Arg1158=)
c.3140G= (p.Arg1047=)
7g.117614628G>TCA368993324CFTRc.3383G>T (p.Arg1128Ile)
c.*3097G>T (n.*3097G>T)
c.3200G>T (p.Arg1067Ile)
c.*1758G>T (n.*1758G>T)
c.3377G>T (p.Arg1126Ile)
c.*3207G>T (n.*3207G>T)
c.2957G>T (p.Arg986Ile)
c.131G>T (p.Arg44Ile)
c.974G>T (p.Arg325Ile)
c.1033G>T
c.2165G>T (p.Arg722Ile)
c.3293G>T (p.Arg1098Ile)
c.208G>T
c.3473G>T (p.Arg1158Ile)
c.3140G>T (p.Arg1047Ile)
7g.117614629A>CCA368993332CFTRc.3384A>C (p.Arg1128Ser)
c.*3098A>C (n.*3098A>C)
c.3201A>C (p.Arg1067Ser)
c.*1759A>C (n.*1759A>C)
c.3378A>C (p.Arg1126Ser)
c.*3208A>C (n.*3208A>C)
c.2958A>C (p.Arg986Ser)
c.132A>C (p.Arg44Ser)
c.975A>C (p.Arg325Ser)
c.1034A>C
c.2166A>C (p.Arg722Ser)
c.3294A>C (p.Arg1098Ser)
c.209A>C
c.3474A>C (p.Arg1158Ser)
c.3141A>C (p.Arg1047Ser)
7g.117614629A>GCA457230158CFTRc.3384A>G (p.Arg1128=)
c.*3098A>G (n.*3098A>G)
c.3201A>G (p.Arg1067=)
c.*1759A>G (n.*1759A>G)
c.3378A>G (p.Arg1126=)
c.*3208A>G (n.*3208A>G)
c.2958A>G (p.Arg986=)
c.132A>G (p.Arg44=)
c.975A>G (p.Arg325=)
c.1034A>G
c.2166A>G (p.Arg722=)
c.3294A>G (p.Arg1098=)
c.209A>G
c.3474A>G (p.Arg1158=)
c.3141A>G (p.Arg1047=)
7g.117614629A>TCA368993333CFTRc.3384A>T (p.Arg1128Ser)
c.*3098A>T (n.*3098A>T)
c.3201A>T (p.Arg1067Ser)
c.*1759A>T (n.*1759A>T)
c.3378A>T (p.Arg1126Ser)
c.*3208A>T (n.*3208A>T)
c.2958A>T (p.Arg986Ser)
c.132A>T (p.Arg44Ser)
c.975A>T (p.Arg325Ser)
c.1034A>T
c.2166A>T (p.Arg722Ser)
c.3294A>T (p.Arg1098Ser)
c.209A>T
c.3474A>T (p.Arg1158Ser)
c.3141A>T (p.Arg1047Ser)
7g.117614630G>ACA368993336CFTRc.3385G>A (p.Val1129Ile)
c.*3099G>A (n.*3099G>A)
c.3202G>A (p.Val1068Ile)
c.*1760G>A (n.*1760G>A)
c.3379G>A (p.Val1127Ile)
c.*3209G>A (n.*3209G>A)
c.2959G>A (p.Val987Ile)
c.133G>A (p.Val45Ile)
c.976G>A (p.Val326Ile)
c.1035G>A
c.2167G>A (p.Val723Ile)
c.3295G>A (p.Val1099Ile)
c.210G>A
c.3475G>A (p.Val1159Ile)
c.3142G>A (p.Val1048Ile)
 ClinVar gnomAD v4
7g.117614630G>CCA368993338CFTRc.3385G>C (p.Val1129Leu)
c.*3099G>C (n.*3099G>C)
c.3202G>C (p.Val1068Leu)
c.*1760G>C (n.*1760G>C)
c.3379G>C (p.Val1127Leu)
c.*3209G>C (n.*3209G>C)
c.2959G>C (p.Val987Leu)
c.133G>C (p.Val45Leu)
c.976G>C (p.Val326Leu)
c.1035G>C
c.2167G>C (p.Val723Leu)
c.3295G>C (p.Val1099Leu)
c.210G>C
c.3475G>C (p.Val1159Leu)
c.3142G>C (p.Val1048Leu)
 ClinVar dbSNP gnomAD v4
7g.117614630G>TCA368993340CFTRc.3385G>T (p.Val1129Phe)
c.*3099G>T (n.*3099G>T)
c.3202G>T (p.Val1068Phe)
c.*1760G>T (n.*1760G>T)
c.3379G>T (p.Val1127Phe)
c.*3209G>T (n.*3209G>T)
c.2959G>T (p.Val987Phe)
c.133G>T (p.Val45Phe)
c.976G>T (p.Val326Phe)
c.1035G>T
c.2167G>T (p.Val723Phe)
c.3295G>T (p.Val1099Phe)
c.210G>T
c.3475G>T (p.Val1159Phe)
c.3142G>T (p.Val1048Phe)
7g.117614631T>ACA368993346CFTRc.3386T>A (p.Val1129Asp)
c.*3100T>A (n.*3100T>A)
c.3203T>A (p.Val1068Asp)
c.*1761T>A (n.*1761T>A)
c.3380T>A (p.Val1127Asp)
c.*3210T>A (n.*3210T>A)
c.2960T>A (p.Val987Asp)
c.134T>A (p.Val45Asp)
c.977T>A (p.Val326Asp)
c.1036T>A
c.2168T>A (p.Val723Asp)
c.3296T>A (p.Val1099Asp)
c.211T>A
c.3476T>A (p.Val1159Asp)
c.3143T>A (p.Val1048Asp)
7g.117614631T>CCA368993342CFTRc.3386T>C (p.Val1129Ala)
c.*3100T>C (n.*3100T>C)
c.3203T>C (p.Val1068Ala)
c.*1761T>C (n.*1761T>C)
c.3380T>C (p.Val1127Ala)
c.*3210T>C (n.*3210T>C)
c.2960T>C (p.Val987Ala)
c.134T>C (p.Val45Ala)
c.977T>C (p.Val326Ala)
c.1036T>C
c.2168T>C (p.Val723Ala)
c.3296T>C (p.Val1099Ala)
c.211T>C
c.3476T>C (p.Val1159Ala)
c.3143T>C (p.Val1048Ala)
 dbSNP gnomAD v4
7g.117614631T>GCA368993344CFTRc.3386T>G (p.Val1129Gly)
c.*3100T>G (n.*3100T>G)
c.3203T>G (p.Val1068Gly)
c.*1761T>G (n.*1761T>G)
c.3380T>G (p.Val1127Gly)
c.*3210T>G (n.*3210T>G)
c.2960T>G (p.Val987Gly)
c.134T>G (p.Val45Gly)
c.977T>G (p.Val326Gly)
c.1036T>G
c.2168T>G (p.Val723Gly)
c.3296T>G (p.Val1099Gly)
c.211T>G
c.3476T>G (p.Val1159Gly)
c.3143T>G (p.Val1048Gly)
 gnomAD v4
7g.117614631T=CA1737391976CFTRc.3386T= (p.Val1129=)
c.*3100T= (n.*3100T=)
c.3203T= (p.Val1068=)
c.*1761T= (n.*1761T=)
c.3380T= (p.Val1127=)
c.*3210T= (n.*3210T=)
c.2960T= (p.Val987=)
c.134T= (p.Val45=)
c.977T= (p.Val326=)
c.1036T=
c.2168T= (p.Val723=)
c.3296T= (p.Val1099=)
c.211T=
c.3476T= (p.Val1159=)
c.3143T= (p.Val1048=)
7g.117614632delCA2695208372CFTRc.3387del (p.Gly1130ValfsTer4)
c.*3101del (n.*3101del)
c.3204del (p.Gly1069ValfsTer4)
c.*1762del (n.*1762del)
c.3381del (p.Gly1128ValfsTer4)
c.*3211del (n.*3211del)
c.2961del (p.Gly988ValfsTer4)
c.135del (p.Gly46ValfsTer4)
c.978del (p.Gly327ValfsTer4)
c.1037del
c.2169del (p.Gly724ValfsTer4)
c.3297del (p.Gly1100ValfsTer4)
c.212del
c.3477del (p.Gly1160ValfsTer4)
c.3144del (p.Gly1049ValfsTer4)
7g.117614632T>ACA457230160CFTRc.3387T>A (p.Val1129=)
c.*3101T>A (n.*3101T>A)
c.3204T>A (p.Val1068=)
c.*1762T>A (n.*1762T>A)
c.3381T>A (p.Val1127=)
c.*3211T>A (n.*3211T>A)
c.2961T>A (p.Val987=)
c.135T>A (p.Val45=)
c.978T>A (p.Val326=)
c.1037T>A
c.2169T>A (p.Val723=)
c.3297T>A (p.Val1099=)
c.212T>A
c.3477T>A (p.Val1159=)
c.3144T>A (p.Val1048=)
7g.117614632T>CCA457230161CFTRc.3387T>C (p.Val1129=)
c.*3101T>C (n.*3101T>C)
c.3204T>C (p.Val1068=)
c.*1762T>C (n.*1762T>C)
c.3381T>C (p.Val1127=)
c.*3211T>C (n.*3211T>C)
c.2961T>C (p.Val987=)
c.135T>C (p.Val45=)
c.978T>C (p.Val326=)
c.1037T>C
c.2169T>C (p.Val723=)
c.3297T>C (p.Val1099=)
c.212T>C
c.3477T>C (p.Val1159=)
c.3144T>C (p.Val1048=)
7g.117614632T>GCA457230162CFTRc.3387T>G (p.Val1129=)
c.*3101T>G (n.*3101T>G)
c.3204T>G (p.Val1068=)
c.*1762T>G (n.*1762T>G)
c.3381T>G (p.Val1127=)
c.*3211T>G (n.*3211T>G)
c.2961T>G (p.Val987=)
c.135T>G (p.Val45=)
c.978T>G (p.Val326=)
c.1037T>G
c.2169T>G (p.Val723=)
c.3297T>G (p.Val1099=)
c.212T>G
c.3477T>G (p.Val1159=)
c.3144T>G (p.Val1048=)
7g.117614633G>ACA164968795CFTRc.3388G>A (p.Gly1130Ser)
c.*3102G>A (n.*3102G>A)
c.3205G>A (p.Gly1069Ser)
c.*1763G>A (n.*1763G>A)
c.3382G>A (p.Gly1128Ser)
c.*3212G>A (n.*3212G>A)
c.2962G>A (p.Gly988Ser)
c.136G>A (p.Gly46Ser)
c.979G>A (p.Gly327Ser)
c.1038G>A
c.2170G>A (p.Gly724Ser)
c.3298G>A (p.Gly1100Ser)
c.213G>A
c.3478G>A (p.Gly1160Ser)
c.3145G>A (p.Gly1049Ser)
 ClinVar dbSNP gnomAD v2
7g.117614633G>CCA368993350CFTRc.3388G>C (p.Gly1130Arg)
c.*3102G>C (n.*3102G>C)
c.3205G>C (p.Gly1069Arg)
c.*1763G>C (n.*1763G>C)
c.3382G>C (p.Gly1128Arg)
c.*3212G>C (n.*3212G>C)
c.2962G>C (p.Gly988Arg)
c.136G>C (p.Gly46Arg)
c.979G>C (p.Gly327Arg)
c.1038G>C
c.2170G>C (p.Gly724Arg)
c.3298G>C (p.Gly1100Arg)
c.213G>C
c.3478G>C (p.Gly1160Arg)
c.3145G>C (p.Gly1049Arg)
 ClinVar dbSNP
7g.117614633G=CA1737391987CFTRc.3388G= (p.Gly1130=)
c.*3102G= (n.*3102G=)
c.3205G= (p.Gly1069=)
c.*1763G= (n.*1763G=)
c.3382G= (p.Gly1128=)
c.*3212G= (n.*3212G=)
c.2962G= (p.Gly988=)
c.136G= (p.Gly46=)
c.979G= (p.Gly327=)
c.1038G=
c.2170G= (p.Gly724=)
c.3298G= (p.Gly1100=)
c.213G=
c.3478G= (p.Gly1160=)
c.3145G= (p.Gly1049=)
7g.117614633G>TCA368993352CFTRc.3388G>T (p.Gly1130Cys)
c.*3102G>T (n.*3102G>T)
c.3205G>T (p.Gly1069Cys)
c.*1763G>T (n.*1763G>T)
c.3382G>T (p.Gly1128Cys)
c.*3212G>T (n.*3212G>T)
c.2962G>T (p.Gly988Cys)
c.136G>T (p.Gly46Cys)
c.979G>T (p.Gly327Cys)
c.1038G>T
c.2170G>T (p.Gly724Cys)
c.3298G>T (p.Gly1100Cys)
c.213G>T
c.3478G>T (p.Gly1160Cys)
c.3145G>T (p.Gly1049Cys)
7g.117614634G>ACA368993354CFTRc.3389G>A (p.Gly1130Asp)
c.*3103G>A (n.*3103G>A)
c.3206G>A (p.Gly1069Asp)
c.*1764G>A (n.*1764G>A)
c.3383G>A (p.Gly1128Asp)
c.*3213G>A (n.*3213G>A)
c.2963G>A (p.Gly988Asp)
c.137G>A (p.Gly46Asp)
c.980G>A (p.Gly327Asp)
c.1039G>A
c.2171G>A (p.Gly724Asp)
c.3299G>A (p.Gly1100Asp)
c.214G>A
c.3479G>A (p.Gly1160Asp)
c.3146G>A (p.Gly1049Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117614634G>CCA327164CFTRc.3389G>C (p.Gly1130Ala)
c.*3103G>C (n.*3103G>C)
c.3206G>C (p.Gly1069Ala)
c.*1764G>C (n.*1764G>C)
c.3383G>C (p.Gly1128Ala)
c.*3213G>C (n.*3213G>C)
c.2963G>C (p.Gly988Ala)
c.137G>C (p.Gly46Ala)
c.980G>C (p.Gly327Ala)
c.1039G>C
c.2171G>C (p.Gly724Ala)
c.3299G>C (p.Gly1100Ala)
c.214G>C
c.3479G>C (p.Gly1160Ala)
c.3146G>C (p.Gly1049Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614634G=CA1737391991CFTRc.3389G= (p.Gly1130=)
c.*3103G= (n.*3103G=)
c.3206G= (p.Gly1069=)
c.*1764G= (n.*1764G=)
c.3383G= (p.Gly1128=)
c.*3213G= (n.*3213G=)
c.2963G= (p.Gly988=)
c.137G= (p.Gly46=)
c.980G= (p.Gly327=)
c.1039G=
c.2171G= (p.Gly724=)
c.3299G= (p.Gly1100=)
c.214G=
c.3479G= (p.Gly1160=)
c.3146G= (p.Gly1049=)
7g.117614634G>TCA368993358CFTRc.3389G>T (p.Gly1130Val)
c.*3103G>T (n.*3103G>T)
c.3206G>T (p.Gly1069Val)
c.*1764G>T (n.*1764G>T)
c.3383G>T (p.Gly1128Val)
c.*3213G>T (n.*3213G>T)
c.2963G>T (p.Gly988Val)
c.137G>T (p.Gly46Val)
c.980G>T (p.Gly327Val)
c.1039G>T
c.2171G>T (p.Gly724Val)
c.3299G>T (p.Gly1100Val)
c.214G>T
c.3479G>T (p.Gly1160Val)
c.3146G>T (p.Gly1049Val)
 dbSNP gnomAD v2 gnomAD v4
7g.117614634_117614647delCA2580076397CFTRc.3389_3402del (p.Gly1130ValfsTer21)
c.*3103_*3116del (n.*3103_*3116del)
c.3206_3219del (p.Gly1069ValfsTer21)
c.*1764_*1777del (n.*1764_*1777del)
c.3383_3396del (p.Gly1128ValfsTer21)
c.*3213_*3226del (n.*3213_*3226del)
c.2963_2976del (p.Gly988ValfsTer21)
c.137_150del (p.Gly46ValfsTer21)
c.980_993del (p.Gly327ValfsTer21)
c.1039_1052del
c.2171_2184del (p.Gly724ValfsTer21)
c.3299_3312del (p.Gly1100ValfsTer21)
c.214_227del
c.3479_3492del (p.Gly1160ValfsTer21)
c.3146_3159del (p.Gly1049ValfsTer21)
 ClinVar
7g.117614635T>ACA457230163CFTRc.3390T>A (p.Gly1130=)
c.*3104T>A (n.*3104T>A)
c.3207T>A (p.Gly1069=)
c.*1765T>A (n.*1765T>A)
c.3384T>A (p.Gly1128=)
c.*3214T>A (n.*3214T>A)
c.2964T>A (p.Gly988=)
c.138T>A (p.Gly46=)
c.981T>A (p.Gly327=)
c.1040T>A
c.2172T>A (p.Gly724=)
c.3300T>A (p.Gly1100=)
c.215T>A
c.3480T>A (p.Gly1160=)
c.3147T>A (p.Gly1049=)
7g.117614635T>CCA457230164CFTRc.3390T>C (p.Gly1130=)
c.*3104T>C (n.*3104T>C)
c.3207T>C (p.Gly1069=)
c.*1765T>C (n.*1765T>C)
c.3384T>C (p.Gly1128=)
c.*3214T>C (n.*3214T>C)
c.2964T>C (p.Gly988=)
c.138T>C (p.Gly46=)
c.981T>C (p.Gly327=)
c.1040T>C
c.2172T>C (p.Gly724=)
c.3300T>C (p.Gly1100=)
c.215T>C
c.3480T>C (p.Gly1160=)
c.3147T>C (p.Gly1049=)
7g.117614635T>GCA457230165CFTRc.3390T>G (p.Gly1130=)
c.*3104T>G (n.*3104T>G)
c.3207T>G (p.Gly1069=)
c.*1765T>G (n.*1765T>G)
c.3384T>G (p.Gly1128=)
c.*3214T>G (n.*3214T>G)
c.2964T>G (p.Gly988=)
c.138T>G (p.Gly46=)
c.981T>G (p.Gly327=)
c.1040T>G
c.2172T>G (p.Gly724=)
c.3300T>G (p.Gly1100=)
c.215T>G
c.3480T>G (p.Gly1160=)
c.3147T>G (p.Gly1049=)
7g.117614636A=CA1737392000CFTRc.3391A= (p.Ile1131=)
c.*3105A= (n.*3105A=)
c.3208A= (p.Ile1070=)
c.*1766A= (n.*1766A=)
c.3385A= (p.Ile1129=)
c.*3215A= (n.*3215A=)
c.2965A= (p.Ile989=)
c.139A= (p.Ile47=)
c.982A= (p.Ile328=)
c.1041A=
c.2173A= (p.Ile725=)
c.3301A= (p.Ile1101=)
c.216A=
c.3481A= (p.Ile1161=)
c.3148A= (p.Ile1050=)
7g.117614636A>CCA368993363CFTRc.3391A>C (p.Ile1131Leu)
c.*3105A>C (n.*3105A>C)
c.3208A>C (p.Ile1070Leu)
c.*1766A>C (n.*1766A>C)
c.3385A>C (p.Ile1129Leu)
c.*3215A>C (n.*3215A>C)
c.2965A>C (p.Ile989Leu)
c.139A>C (p.Ile47Leu)
c.982A>C (p.Ile328Leu)
c.1041A>C
c.2173A>C (p.Ile725Leu)
c.3301A>C (p.Ile1101Leu)
c.216A>C
c.3481A>C (p.Ile1161Leu)
c.3148A>C (p.Ile1050Leu)
7g.117614636A>GCA4451453CFTRc.3391A>G (p.Ile1131Val)
c.*3105A>G (n.*3105A>G)
c.3208A>G (p.Ile1070Val)
c.*1766A>G (n.*1766A>G)
c.3385A>G (p.Ile1129Val)
c.*3215A>G (n.*3215A>G)
c.2965A>G (p.Ile989Val)
c.139A>G (p.Ile47Val)
c.982A>G (p.Ile328Val)
c.1041A>G
c.2173A>G (p.Ile725Val)
c.3301A>G (p.Ile1101Val)
c.216A>G
c.3481A>G (p.Ile1161Val)
c.3148A>G (p.Ile1050Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614636A>TCA368993361CFTRc.3391A>T (p.Ile1131Phe)
c.*3105A>T (n.*3105A>T)
c.3208A>T (p.Ile1070Phe)
c.*1766A>T (n.*1766A>T)
c.3385A>T (p.Ile1129Phe)
c.*3215A>T (n.*3215A>T)
c.2965A>T (p.Ile989Phe)
c.139A>T (p.Ile47Phe)
c.982A>T (p.Ile328Phe)
c.1041A>T
c.2173A>T (p.Ile725Phe)
c.3301A>T (p.Ile1101Phe)
c.216A>T
c.3481A>T (p.Ile1161Phe)
c.3148A>T (p.Ile1050Phe)
7g.117614637T>ACA368993368CFTRc.3392T>A (p.Ile1131Asn)
c.*3106T>A (n.*3106T>A)
c.3209T>A (p.Ile1070Asn)
c.*1767T>A (n.*1767T>A)
c.3386T>A (p.Ile1129Asn)
c.*3216T>A (n.*3216T>A)
c.2966T>A (p.Ile989Asn)
c.140T>A (p.Ile47Asn)
c.983T>A (p.Ile328Asn)
c.1042T>A
c.2174T>A (p.Ile725Asn)
c.3302T>A (p.Ile1101Asn)
c.217T>A
c.3482T>A (p.Ile1161Asn)
c.3149T>A (p.Ile1050Asn)
7g.117614637T>CCA368993372CFTRc.3392T>C (p.Ile1131Thr)
c.*3106T>C (n.*3106T>C)
c.3209T>C (p.Ile1070Thr)
c.*1767T>C (n.*1767T>C)
c.3386T>C (p.Ile1129Thr)
c.*3216T>C (n.*3216T>C)
c.2966T>C (p.Ile989Thr)
c.140T>C (p.Ile47Thr)
c.983T>C (p.Ile328Thr)
c.1042T>C
c.2174T>C (p.Ile725Thr)
c.3302T>C (p.Ile1101Thr)
c.217T>C
c.3482T>C (p.Ile1161Thr)
c.3149T>C (p.Ile1050Thr)
 ClinVar dbSNP gnomAD v4
7g.117614637T>GCA368993370CFTRc.3392T>G (p.Ile1131Ser)
c.*3106T>G (n.*3106T>G)
c.3209T>G (p.Ile1070Ser)
c.*1767T>G (n.*1767T>G)
c.3386T>G (p.Ile1129Ser)
c.*3216T>G (n.*3216T>G)
c.2966T>G (p.Ile989Ser)
c.140T>G (p.Ile47Ser)
c.983T>G (p.Ile328Ser)
c.1042T>G
c.2174T>G (p.Ile725Ser)
c.3302T>G (p.Ile1101Ser)
c.217T>G
c.3482T>G (p.Ile1161Ser)
c.3149T>G (p.Ile1050Ser)
7g.117614637T=CA1737392004CFTRc.3392T= (p.Ile1131=)
c.*3106T= (n.*3106T=)
c.3209T= (p.Ile1070=)
c.*1767T= (n.*1767T=)
c.3386T= (p.Ile1129=)
c.*3216T= (n.*3216T=)
c.2966T= (p.Ile989=)
c.140T= (p.Ile47=)
c.983T= (p.Ile328=)
c.1042T=
c.2174T= (p.Ile725=)
c.3302T= (p.Ile1101=)
c.217T=
c.3482T= (p.Ile1161=)
c.3149T= (p.Ile1050=)
7g.117614637_117614641dupCA2697557587CFTRc.3392_3396dup (p.Thr1134SerfsTer2)
c.*3106_*3110dup (n.*3106_*3110dup)
c.3209_3213dup (p.Thr1073SerfsTer2)
c.*1767_*1771dup (n.*1767_*1771dup)
c.3386_3390dup (p.Thr1132SerfsTer2)
c.*3216_*3220dup (n.*3216_*3220dup)
c.2966_2970dup (p.Thr992SerfsTer2)
c.140_144dup (p.Thr50SerfsTer2)
c.983_987dup (p.Thr331SerfsTer2)
c.1042_1046dup
c.2174_2178dup (p.Thr728SerfsTer2)
c.3302_3306dup (p.Thr1104SerfsTer2)
c.217_221dup
c.3482_3486dup (p.Thr1164SerfsTer2)
c.3149_3153dup (p.Thr1053SerfsTer2)
 ClinVar
7g.117614638T>ACA457230167CFTRc.3393T>A (p.Ile1131=)
c.*3107T>A (n.*3107T>A)
c.3210T>A (p.Ile1070=)
c.*1768T>A (n.*1768T>A)
c.3387T>A (p.Ile1129=)
c.*3217T>A (n.*3217T>A)
c.2967T>A (p.Ile989=)
c.141T>A (p.Ile47=)
c.984T>A (p.Ile328=)
c.1043T>A
c.2175T>A (p.Ile725=)
c.3303T>A (p.Ile1101=)
c.218T>A
c.3483T>A (p.Ile1161=)
c.3150T>A (p.Ile1050=)
7g.117614638T>CCA4451454CFTRc.3393T>C (p.Ile1131=)
c.*3107T>C (n.*3107T>C)
c.3210T>C (p.Ile1070=)
c.*1768T>C (n.*1768T>C)
c.3387T>C (p.Ile1129=)
c.*3217T>C (n.*3217T>C)
c.2967T>C (p.Ile989=)
c.141T>C (p.Ile47=)
c.984T>C (p.Ile328=)
c.1043T>C
c.2175T>C (p.Ile725=)
c.3303T>C (p.Ile1101=)
c.218T>C
c.3483T>C (p.Ile1161=)
c.3150T>C (p.Ile1050=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614638T>GCA368993374CFTRc.3393T>G (p.Ile1131Met)
c.*3107T>G (n.*3107T>G)
c.3210T>G (p.Ile1070Met)
c.*1768T>G (n.*1768T>G)
c.3387T>G (p.Ile1129Met)
c.*3217T>G (n.*3217T>G)
c.2967T>G (p.Ile989Met)
c.141T>G (p.Ile47Met)
c.984T>G (p.Ile328Met)
c.1043T>G
c.2175T>G (p.Ile725Met)
c.3303T>G (p.Ile1101Met)
c.218T>G
c.3483T>G (p.Ile1161Met)
c.3150T>G (p.Ile1050Met)
7g.117614638T=CA1737392006CFTRc.3393T= (p.Ile1131=)
c.*3107T= (n.*3107T=)
c.3210T= (p.Ile1070=)
c.*1768T= (n.*1768T=)
c.3387T= (p.Ile1129=)
c.*3217T= (n.*3217T=)
c.2967T= (p.Ile989=)
c.141T= (p.Ile47=)
c.984T= (p.Ile328=)
c.1043T=
c.2175T= (p.Ile725=)
c.3303T= (p.Ile1101=)
c.218T=
c.3483T= (p.Ile1161=)
c.3150T= (p.Ile1050=)
7g.117614639A>CCA368993377CFTRc.3394A>C (p.Ile1132Leu)
c.*3108A>C (n.*3108A>C)
c.3211A>C (p.Ile1071Leu)
c.*1769A>C (n.*1769A>C)
c.3388A>C (p.Ile1130Leu)
c.*3218A>C (n.*3218A>C)
c.2968A>C (p.Ile990Leu)
c.142A>C (p.Ile48Leu)
c.985A>C (p.Ile329Leu)
c.1044A>C
c.2176A>C (p.Ile726Leu)
c.3304A>C (p.Ile1102Leu)
c.219A>C
c.3484A>C (p.Ile1162Leu)
c.3151A>C (p.Ile1051Leu)
7g.117614639A>GCA368993379CFTRc.3394A>G (p.Ile1132Val)
c.*3108A>G (n.*3108A>G)
c.3211A>G (p.Ile1071Val)
c.*1769A>G (n.*1769A>G)
c.3388A>G (p.Ile1130Val)
c.*3218A>G (n.*3218A>G)
c.2968A>G (p.Ile990Val)
c.142A>G (p.Ile48Val)
c.985A>G (p.Ile329Val)
c.1044A>G
c.2176A>G (p.Ile726Val)
c.3304A>G (p.Ile1102Val)
c.219A>G
c.3484A>G (p.Ile1162Val)
c.3151A>G (p.Ile1051Val)
7g.117614639A>TCA368993381CFTRc.3394A>T (p.Ile1132Phe)
c.*3108A>T (n.*3108A>T)
c.3211A>T (p.Ile1071Phe)
c.*1769A>T (n.*1769A>T)
c.3388A>T (p.Ile1130Phe)
c.*3218A>T (n.*3218A>T)
c.2968A>T (p.Ile990Phe)
c.142A>T (p.Ile48Phe)
c.985A>T (p.Ile329Phe)
c.1044A>T
c.2176A>T (p.Ile726Phe)
c.3304A>T (p.Ile1102Phe)
c.219A>T
c.3484A>T (p.Ile1162Phe)
c.3151A>T (p.Ile1051Phe)
7g.117614640T>ACA368993384CFTRc.3395T>A (p.Ile1132Asn)
c.*3109T>A (n.*3109T>A)
c.3212T>A (p.Ile1071Asn)
c.*1770T>A (n.*1770T>A)
c.3389T>A (p.Ile1130Asn)
c.*3219T>A (n.*3219T>A)
c.2969T>A (p.Ile990Asn)
c.143T>A (p.Ile48Asn)
c.986T>A (p.Ile329Asn)
c.1045T>A
c.2177T>A (p.Ile726Asn)
c.3305T>A (p.Ile1102Asn)
c.220T>A
c.3485T>A (p.Ile1162Asn)
c.3152T>A (p.Ile1051Asn)
7g.117614640T>CCA368993385CFTRc.3395T>C (p.Ile1132Thr)
c.*3109T>C (n.*3109T>C)
c.3212T>C (p.Ile1071Thr)
c.*1770T>C (n.*1770T>C)
c.3389T>C (p.Ile1130Thr)
c.*3219T>C (n.*3219T>C)
c.2969T>C (p.Ile990Thr)
c.143T>C (p.Ile48Thr)
c.986T>C (p.Ile329Thr)
c.1045T>C
c.2177T>C (p.Ile726Thr)
c.3305T>C (p.Ile1102Thr)
c.220T>C
c.3485T>C (p.Ile1162Thr)
c.3152T>C (p.Ile1051Thr)
7g.117614640T>GCA368993387CFTRc.3395T>G (p.Ile1132Ser)
c.*3109T>G (n.*3109T>G)
c.3212T>G (p.Ile1071Ser)
c.*1770T>G (n.*1770T>G)
c.3389T>G (p.Ile1130Ser)
c.*3219T>G (n.*3219T>G)
c.2969T>G (p.Ile990Ser)
c.143T>G (p.Ile48Ser)
c.986T>G (p.Ile329Ser)
c.1045T>G
c.2177T>G (p.Ile726Ser)
c.3305T>G (p.Ile1102Ser)
c.220T>G
c.3485T>G (p.Ile1162Ser)
c.3152T>G (p.Ile1051Ser)
7g.117614641C>ACA457230169CFTRc.3396C>A (p.Ile1132=)
c.*3110C>A (n.*3110C>A)
c.3213C>A (p.Ile1071=)
c.*1771C>A (n.*1771C>A)
c.3390C>A (p.Ile1130=)
c.*3220C>A (n.*3220C>A)
c.2970C>A (p.Ile990=)
c.144C>A (p.Ile48=)
c.987C>A (p.Ile329=)
c.1046C>A
c.2178C>A (p.Ile726=)
c.3306C>A (p.Ile1102=)
c.221C>A
c.3486C>A (p.Ile1162=)
c.3153C>A (p.Ile1051=)
7g.117614641C>GCA368993390CFTRc.3396C>G (p.Ile1132Met)
c.*3110C>G (n.*3110C>G)
c.3213C>G (p.Ile1071Met)
c.*1771C>G (n.*1771C>G)
c.3390C>G (p.Ile1130Met)
c.*3220C>G (n.*3220C>G)
c.2970C>G (p.Ile990Met)
c.144C>G (p.Ile48Met)
c.987C>G (p.Ile329Met)
c.1046C>G
c.2178C>G (p.Ile726Met)
c.3306C>G (p.Ile1102Met)
c.221C>G
c.3486C>G (p.Ile1162Met)
c.3153C>G (p.Ile1051Met)
 COSMIC
7g.117614641C>TCA457230170CFTRc.3396C>T (p.Ile1132=)
c.*3110C>T (n.*3110C>T)
c.3213C>T (p.Ile1071=)
c.*1771C>T (n.*1771C>T)
c.3390C>T (p.Ile1130=)
c.*3220C>T (n.*3220C>T)
c.2970C>T (p.Ile990=)
c.144C>T (p.Ile48=)
c.987C>T (p.Ile329=)
c.1046C>T
c.2178C>T (p.Ile726=)
c.3306C>T (p.Ile1102=)
c.221C>T
c.3486C>T (p.Ile1162=)
c.3153C>T (p.Ile1051=)
7g.117614642C>ACA368993392CFTRc.3397C>A (p.Leu1133Met)
c.*3111C>A (n.*3111C>A)
c.3214C>A (p.Leu1072Met)
c.*1772C>A (n.*1772C>A)
c.3391C>A (p.Leu1131Met)
c.*3221C>A (n.*3221C>A)
c.2971C>A (p.Leu991Met)
c.145C>A (p.Leu49Met)
c.988C>A (p.Leu330Met)
c.1047C>A
c.2179C>A (p.Leu727Met)
c.3307C>A (p.Leu1103Met)
c.222C>A
c.3487C>A (p.Leu1163Met)
c.3154C>A (p.Leu1052Met)
7g.117614642C>GCA368993393CFTRc.3397C>G (p.Leu1133Val)
c.*3111C>G (n.*3111C>G)
c.3214C>G (p.Leu1072Val)
c.*1772C>G (n.*1772C>G)
c.3391C>G (p.Leu1131Val)
c.*3221C>G (n.*3221C>G)
c.2971C>G (p.Leu991Val)
c.145C>G (p.Leu49Val)
c.988C>G (p.Leu330Val)
c.1047C>G
c.2179C>G (p.Leu727Val)
c.3307C>G (p.Leu1103Val)
c.222C>G
c.3487C>G (p.Leu1163Val)
c.3154C>G (p.Leu1052Val)
7g.117614642C>TCA457230171CFTRc.3397C>T (p.Leu1133=)
c.*3111C>T (n.*3111C>T)
c.3214C>T (p.Leu1072=)
c.*1772C>T (n.*1772C>T)
c.3391C>T (p.Leu1131=)
c.*3221C>T (n.*3221C>T)
c.2971C>T (p.Leu991=)
c.145C>T (p.Leu49=)
c.988C>T (p.Leu330=)
c.1047C>T
c.2179C>T (p.Leu727=)
c.3307C>T (p.Leu1103=)
c.222C>T
c.3487C>T (p.Leu1163=)
c.3154C>T (p.Leu1052=)
 gnomAD v4
7g.117614643T>ACA368993401CFTRc.3398T>A (p.Leu1133Gln)
c.*3112T>A (n.*3112T>A)
c.3215T>A (p.Leu1072Gln)
c.*1773T>A (n.*1773T>A)
c.3392T>A (p.Leu1131Gln)
c.*3222T>A (n.*3222T>A)
c.2972T>A (p.Leu991Gln)
c.146T>A (p.Leu49Gln)
c.989T>A (p.Leu330Gln)
c.1048T>A
c.2180T>A (p.Leu727Gln)
c.3308T>A (p.Leu1103Gln)
c.223T>A
c.3488T>A (p.Leu1163Gln)
c.3155T>A (p.Leu1052Gln)
7g.117614643T>CCA368993399CFTRc.3398T>C (p.Leu1133Pro)
c.*3112T>C (n.*3112T>C)
c.3215T>C (p.Leu1072Pro)
c.*1773T>C (n.*1773T>C)
c.3392T>C (p.Leu1131Pro)
c.*3222T>C (n.*3222T>C)
c.2972T>C (p.Leu991Pro)
c.146T>C (p.Leu49Pro)
c.989T>C (p.Leu330Pro)
c.1048T>C
c.2180T>C (p.Leu727Pro)
c.3308T>C (p.Leu1103Pro)
c.223T>C
c.3488T>C (p.Leu1163Pro)
c.3155T>C (p.Leu1052Pro)
 gnomAD v4
7g.117614643T>GCA368993397CFTRc.3398T>G (p.Leu1133Arg)
c.*3112T>G (n.*3112T>G)
c.3215T>G (p.Leu1072Arg)
c.*1773T>G (n.*1773T>G)
c.3392T>G (p.Leu1131Arg)
c.*3222T>G (n.*3222T>G)
c.2972T>G (p.Leu991Arg)
c.146T>G (p.Leu49Arg)
c.989T>G (p.Leu330Arg)
c.1048T>G
c.2180T>G (p.Leu727Arg)
c.3308T>G (p.Leu1103Arg)
c.223T>G
c.3488T>G (p.Leu1163Arg)
c.3155T>G (p.Leu1052Arg)
7g.117614643_117614644delCA2580076398CFTRc.3398_3399del (p.Leu1133HisfsTer22)
c.*3112_*3113del (n.*3112_*3113del)
c.3215_3216del (p.Leu1072HisfsTer22)
c.*1773_*1774del (n.*1773_*1774del)
c.3392_3393del (p.Leu1131HisfsTer22)
c.*3222_*3223del (n.*3222_*3223del)
c.2972_2973del (p.Leu991HisfsTer22)
c.146_147del (p.Leu49HisfsTer22)
c.989_990del (p.Leu330HisfsTer22)
c.1048_1049del
c.2180_2181del (p.Leu727HisfsTer22)
c.3308_3309del (p.Leu1103HisfsTer22)
c.223_224del
c.3488_3489del (p.Leu1163HisfsTer22)
c.3155_3156del (p.Leu1052HisfsTer22)
 ClinVar
7g.117614644G>ACA457230172CFTRc.3399G>A (p.Leu1133=)
c.*3113G>A (n.*3113G>A)
c.3216G>A (p.Leu1072=)
c.*1774G>A (n.*1774G>A)
c.3393G>A (p.Leu1131=)
c.*3223G>A (n.*3223G>A)
c.2973G>A (p.Leu991=)
c.147G>A (p.Leu49=)
c.990G>A (p.Leu330=)
c.1049G>A
c.2181G>A (p.Leu727=)
c.3309G>A (p.Leu1103=)
c.224G>A
c.3489G>A (p.Leu1163=)
c.3156G>A (p.Leu1052=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117614644G>CCA457230174CFTRc.3399G>C (p.Leu1133=)
c.*3113G>C (n.*3113G>C)
c.3216G>C (p.Leu1072=)
c.*1774G>C (n.*1774G>C)
c.3393G>C (p.Leu1131=)
c.*3223G>C (n.*3223G>C)
c.2973G>C (p.Leu991=)
c.147G>C (p.Leu49=)
c.990G>C (p.Leu330=)
c.1049G>C
c.2181G>C (p.Leu727=)
c.3309G>C (p.Leu1103=)
c.224G>C
c.3489G>C (p.Leu1163=)
c.3156G>C (p.Leu1052=)
7g.117614644G=CA1737392010CFTRc.3399G= (p.Leu1133=)
c.*3113G= (n.*3113G=)
c.3216G= (p.Leu1072=)
c.*1774G= (n.*1774G=)
c.3393G= (p.Leu1131=)
c.*3223G= (n.*3223G=)
c.2973G= (p.Leu991=)
c.147G= (p.Leu49=)
c.990G= (p.Leu330=)
c.1049G=
c.2181G= (p.Leu727=)
c.3309G= (p.Leu1103=)
c.224G=
c.3489G= (p.Leu1163=)
c.3156G= (p.Leu1052=)
7g.117614644G>TCA457230173CFTRc.3399G>T (p.Leu1133=)
c.*3113G>T (n.*3113G>T)
c.3216G>T (p.Leu1072=)
c.*1774G>T (n.*1774G>T)
c.3393G>T (p.Leu1131=)
c.*3223G>T (n.*3223G>T)
c.2973G>T (p.Leu991=)
c.147G>T (p.Leu49=)
c.990G>T (p.Leu330=)
c.1049G>T
c.2181G>T (p.Leu727=)
c.3309G>T (p.Leu1103=)
c.224G>T
c.3489G>T (p.Leu1163=)
c.3156G>T (p.Leu1052=)
 gnomAD v4
7g.117614644_117614646delinsGACCA1737392013CFTRc.3399_3401delinsGAC (p.Leu1133=)
c.*3113_*3115delinsGAC (n.*3113_*3115delinsGAC)
c.3216_3218delinsGAC (p.Leu1072=)
c.*1774_*1776delinsGAC (n.*1774_*1776delinsGAC)
c.3393_3395delinsGAC (p.Leu1131=)
c.*3223_*3225delinsGAC (n.*3223_*3225delinsGAC)
c.2973_2975delinsGAC (p.Leu991=)
c.147_149delinsGAC (p.Leu49=)
c.990_992delinsGAC (p.Leu330=)
c.1049_1051delinsGAC
c.2181_2183delinsGAC (p.Leu727=)
c.3309_3311delinsGAC (p.Leu1103=)
c.224_226delinsGAC
c.3489_3491delinsGAC (p.Leu1163=)
c.3156_3158delinsGAC (p.Leu1052=)
7g.117614645A>CCA368993404CFTRc.3400A>C (p.Thr1134Pro)
c.*3114A>C (n.*3114A>C)
c.3217A>C (p.Thr1073Pro)
c.*1775A>C (n.*1775A>C)
c.3394A>C (p.Thr1132Pro)
c.*3224A>C (n.*3224A>C)
c.2974A>C (p.Thr992Pro)
c.148A>C (p.Thr50Pro)
c.991A>C (p.Thr331Pro)
c.1050A>C
c.2182A>C (p.Thr728Pro)
c.3310A>C (p.Thr1104Pro)
c.225A>C
c.3490A>C (p.Thr1164Pro)
c.3157A>C (p.Thr1053Pro)
7g.117614645A>GCA368993406CFTRc.3400A>G (p.Thr1134Ala)
c.*3114A>G (n.*3114A>G)
c.3217A>G (p.Thr1073Ala)
c.*1775A>G (n.*1775A>G)
c.3394A>G (p.Thr1132Ala)
c.*3224A>G (n.*3224A>G)
c.2974A>G (p.Thr992Ala)
c.148A>G (p.Thr50Ala)
c.991A>G (p.Thr331Ala)
c.1050A>G
c.2182A>G (p.Thr728Ala)
c.3310A>G (p.Thr1104Ala)
c.225A>G
c.3490A>G (p.Thr1164Ala)
c.3157A>G (p.Thr1053Ala)
7g.117614645A>TCA368993408CFTRc.3400A>T (p.Thr1134Ser)
c.*3114A>T (n.*3114A>T)
c.3217A>T (p.Thr1073Ser)
c.*1775A>T (n.*1775A>T)
c.3394A>T (p.Thr1132Ser)
c.*3224A>T (n.*3224A>T)
c.2974A>T (p.Thr992Ser)
c.148A>T (p.Thr50Ser)
c.991A>T (p.Thr331Ser)
c.1050A>T
c.2182A>T (p.Thr728Ser)
c.3310A>T (p.Thr1104Ser)
c.225A>T
c.3490A>T (p.Thr1164Ser)
c.3157A>T (p.Thr1053Ser)
7g.117614645_117614646delinsGTACA327168CFTRc.3400_3401delinsGTA (p.Thr1134ValfsTer22)
c.*3114_*3115delinsGTA (n.*3114_*3115delinsGTA)
c.3217_3218delinsGTA (p.Thr1073ValfsTer22)
c.*1775_*1776delinsGTA (n.*1775_*1776delinsGTA)
c.3394_3395delinsGTA (p.Thr1132ValfsTer22)
c.*3224_*3225delinsGTA (n.*3224_*3225delinsGTA)
c.2974_2975delinsGTA (p.Thr992ValfsTer22)
c.148_149delinsGTA (p.Thr50ValfsTer22)
c.991_992delinsGTA (p.Thr331ValfsTer22)
c.1050_1051delinsGTA
c.2182_2183delinsGTA (p.Thr728ValfsTer22)
c.3310_3311delinsGTA (p.Thr1104ValfsTer22)
c.225_226delinsGTA
c.3490_3491delinsGTA (p.Thr1164ValfsTer22)
c.3157_3158delinsGTA (p.Thr1053ValfsTer22)
 ClinVar dbSNP
7g.117614646C>ACA368993413CFTRc.3401C>A (p.Thr1134Asn)
c.*3115C>A (n.*3115C>A)
c.3218C>A (p.Thr1073Asn)
c.*1776C>A (n.*1776C>A)
c.3395C>A (p.Thr1132Asn)
c.*3225C>A (n.*3225C>A)
c.2975C>A (p.Thr992Asn)
c.149C>A (p.Thr50Asn)
c.992C>A (p.Thr331Asn)
c.1051C>A
c.2183C>A (p.Thr728Asn)
c.3311C>A (p.Thr1104Asn)
c.226C>A
c.3491C>A (p.Thr1164Asn)
c.3158C>A (p.Thr1053Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117614646C=CA1737392024CFTRc.3401C= (p.Thr1134=)
c.*3115C= (n.*3115C=)
c.3218C= (p.Thr1073=)
c.*1776C= (n.*1776C=)
c.3395C= (p.Thr1132=)
c.*3225C= (n.*3225C=)
c.2975C= (p.Thr992=)
c.149C= (p.Thr50=)
c.992C= (p.Thr331=)
c.1051C=
c.2183C= (p.Thr728=)
c.3311C= (p.Thr1104=)
c.226C=
c.3491C= (p.Thr1164=)
c.3158C= (p.Thr1053=)
7g.117614646C>GCA368993415CFTRc.3401C>G (p.Thr1134Ser)
c.*3115C>G (n.*3115C>G)
c.3218C>G (p.Thr1073Ser)
c.*1776C>G (n.*1776C>G)
c.3395C>G (p.Thr1132Ser)
c.*3225C>G (n.*3225C>G)
c.2975C>G (p.Thr992Ser)
c.149C>G (p.Thr50Ser)
c.992C>G (p.Thr331Ser)
c.1051C>G
c.2183C>G (p.Thr728Ser)
c.3311C>G (p.Thr1104Ser)
c.226C>G
c.3491C>G (p.Thr1164Ser)
c.3158C>G (p.Thr1053Ser)
7g.117614646C>TCA368993417CFTRc.3401C>T (p.Thr1134Ile)
c.*3115C>T (n.*3115C>T)
c.3218C>T (p.Thr1073Ile)
c.*1776C>T (n.*1776C>T)
c.3395C>T (p.Thr1132Ile)
c.*3225C>T (n.*3225C>T)
c.2975C>T (p.Thr992Ile)
c.149C>T (p.Thr50Ile)
c.992C>T (p.Thr331Ile)
c.1051C>T
c.2183C>T (p.Thr728Ile)
c.3311C>T (p.Thr1104Ile)
c.226C>T
c.3491C>T (p.Thr1164Ile)
c.3158C>T (p.Thr1053Ile)
7g.117614647T>ACA457230175CFTRc.3402T>A (p.Thr1134=)
c.*3116T>A (n.*3116T>A)
c.3219T>A (p.Thr1073=)
c.*1777T>A (n.*1777T>A)
c.3396T>A (p.Thr1132=)
c.*3226T>A (n.*3226T>A)
c.2976T>A (p.Thr992=)
c.150T>A (p.Thr50=)
c.993T>A (p.Thr331=)
c.1052T>A
c.2184T>A (p.Thr728=)
c.3312T>A (p.Thr1104=)
c.227T>A
c.3492T>A (p.Thr1164=)
c.3159T>A (p.Thr1053=)
7g.117614647T>CCA457230176CFTRc.3402T>C (p.Thr1134=)
c.*3116T>C (n.*3116T>C)
c.3219T>C (p.Thr1073=)
c.*1777T>C (n.*1777T>C)
c.3396T>C (p.Thr1132=)
c.*3226T>C (n.*3226T>C)
c.2976T>C (p.Thr992=)
c.150T>C (p.Thr50=)
c.993T>C (p.Thr331=)
c.1052T>C
c.2184T>C (p.Thr728=)
c.3312T>C (p.Thr1104=)
c.227T>C
c.3492T>C (p.Thr1164=)
c.3159T>C (p.Thr1053=)
7g.117614647T>GCA457230177CFTRc.3402T>G (p.Thr1134=)
c.*3116T>G (n.*3116T>G)
c.3219T>G (p.Thr1073=)
c.*1777T>G (n.*1777T>G)
c.3396T>G (p.Thr1132=)
c.*3226T>G (n.*3226T>G)
c.2976T>G (p.Thr992=)
c.150T>G (p.Thr50=)
c.993T>G (p.Thr331=)
c.1052T>G
c.2184T>G (p.Thr728=)
c.3312T>G (p.Thr1104=)
c.227T>G
c.3492T>G (p.Thr1164=)
c.3159T>G (p.Thr1053=)
7g.117614648T>ACA368993420CFTRc.3403T>A (p.Leu1135Ile)
c.*3117T>A (n.*3117T>A)
c.3220T>A (p.Leu1074Ile)
c.*1778T>A (n.*1778T>A)
c.3397T>A (p.Leu1133Ile)
c.*3227T>A (n.*3227T>A)
c.2977T>A (p.Leu993Ile)
c.151T>A (p.Leu51Ile)
c.994T>A (p.Leu332Ile)
c.1053T>A
c.2185T>A (p.Leu729Ile)
c.3313T>A (p.Leu1105Ile)
c.228T>A
c.3493T>A (p.Leu1165Ile)
c.3160T>A (p.Leu1054Ile)
7g.117614648T>CCA457230178CFTRc.3403T>C (p.Leu1135=)
c.*3117T>C (n.*3117T>C)
c.3220T>C (p.Leu1074=)
c.*1778T>C (n.*1778T>C)
c.3397T>C (p.Leu1133=)
c.*3227T>C (n.*3227T>C)
c.2977T>C (p.Leu993=)
c.151T>C (p.Leu51=)
c.994T>C (p.Leu332=)
c.1053T>C
c.2185T>C (p.Leu729=)
c.3313T>C (p.Leu1105=)
c.228T>C
c.3493T>C (p.Leu1165=)
c.3160T>C (p.Leu1054=)
 ClinVar
7g.117614648T>GCA368993421CFTRc.3403T>G (p.Leu1135Val)
c.*3117T>G (n.*3117T>G)
c.3220T>G (p.Leu1074Val)
c.*1778T>G (n.*1778T>G)
c.3397T>G (p.Leu1133Val)
c.*3227T>G (n.*3227T>G)
c.2977T>G (p.Leu993Val)
c.151T>G (p.Leu51Val)
c.994T>G (p.Leu332Val)
c.1053T>G
c.2185T>G (p.Leu729Val)
c.3313T>G (p.Leu1105Val)
c.228T>G
c.3493T>G (p.Leu1165Val)
c.3160T>G (p.Leu1054Val)
7g.117614649T>ACA368993425CFTRc.3404T>A (p.Leu1135Ter)
c.*3118T>A (n.*3118T>A)
c.3221T>A (p.Leu1074Ter)
c.*1779T>A (n.*1779T>A)
c.3398T>A (p.Leu1133Ter)
c.*3228T>A (n.*3228T>A)
c.2978T>A (p.Leu993Ter)
c.152T>A (p.Leu51Ter)
c.995T>A (p.Leu332Ter)
c.1054T>A
c.2186T>A (p.Leu729Ter)
c.3314T>A (p.Leu1105Ter)
c.229T>A
c.3494T>A (p.Leu1165Ter)
c.3161T>A (p.Leu1054Ter)
 ClinVar dbSNP
7g.117614649T>CCA368993426CFTRc.3404T>C (p.Leu1135Ser)
c.*3118T>C (n.*3118T>C)
c.3221T>C (p.Leu1074Ser)
c.*1779T>C (n.*1779T>C)
c.3398T>C (p.Leu1133Ser)
c.*3228T>C (n.*3228T>C)
c.2978T>C (p.Leu993Ser)
c.152T>C (p.Leu51Ser)
c.995T>C (p.Leu332Ser)
c.1054T>C
c.2186T>C (p.Leu729Ser)
c.3314T>C (p.Leu1105Ser)
c.229T>C
c.3494T>C (p.Leu1165Ser)
c.3161T>C (p.Leu1054Ser)
 gnomAD v4
7g.117614649T>GCA368993428CFTRc.3404T>G (p.Leu1135Ter)
c.*3118T>G (n.*3118T>G)
c.3221T>G (p.Leu1074Ter)
c.*1779T>G (n.*1779T>G)
c.3398T>G (p.Leu1133Ter)
c.*3228T>G (n.*3228T>G)
c.2978T>G (p.Leu993Ter)
c.152T>G (p.Leu51Ter)
c.995T>G (p.Leu332Ter)
c.1054T>G
c.2186T>G (p.Leu729Ter)
c.3314T>G (p.Leu1105Ter)
c.229T>G
c.3494T>G (p.Leu1165Ter)
c.3161T>G (p.Leu1054Ter)
7g.117614649T=CA1737392029CFTRc.3404T= (p.Leu1135=)
c.*3118T= (n.*3118T=)
c.3221T= (p.Leu1074=)
c.*1779T= (n.*1779T=)
c.3398T= (p.Leu1133=)
c.*3228T= (n.*3228T=)
c.2978T= (p.Leu993=)
c.152T= (p.Leu51=)
c.995T= (p.Leu332=)
c.1054T=
c.2186T= (p.Leu729=)
c.3314T= (p.Leu1105=)
c.229T=
c.3494T= (p.Leu1165=)
c.3161T= (p.Leu1054=)
7g.117614649_117614665delinsTAGCCATGAATATCATGCA1737392033CFTRc.3404_3420delinsTAGCCATGAATATCATG (p.Leu1135=)
c.*3118_*3134delinsTAGCCATGAATATCATG (n.*3118_*3134delinsTAGCCATGAATATCATG)
c.3221_3237delinsTAGCCATGAATATCATG (p.Leu1074=)
c.*1779_*1795delinsTAGCCATGAATATCATG (n.*1779_*1795delinsTAGCCATGAATATCATG)
c.3398_3414delinsTAGCCATGAATATCATG (p.Leu1133=)
c.*3228_*3244delinsTAGCCATGAATATCATG (n.*3228_*3244delinsTAGCCATGAATATCATG)
c.2978_2994delinsTAGCCATGAATATCATG (p.Leu993=)
c.152_168delinsTAGCCATGAATATCATG (p.Leu51=)
c.995_1011delinsTAGCCATGAATATCATG (p.Leu332=)
c.1054_1070delinsTAGCCATGAATATCATG
c.2186_2202delinsTAGCCATGAATATCATG (p.Leu729=)
c.3314_3330delinsTAGCCATGAATATCATG (p.Leu1105=)
c.229_245delinsTAGCCATGAATATCATG
c.3494_3510delinsTAGCCATGAATATCATG (p.Leu1165=)
c.3161_3177delinsTAGCCATGAATATCATG (p.Leu1054=)
7g.117614650A>CCA368993432CFTRc.3405A>C (p.Leu1135Phe)
c.*3119A>C (n.*3119A>C)
c.3222A>C (p.Leu1074Phe)
c.*1780A>C (n.*1780A>C)
c.3399A>C (p.Leu1133Phe)
c.*3229A>C (n.*3229A>C)
c.2979A>C (p.Leu993Phe)
c.153A>C (p.Leu51Phe)
c.996A>C (p.Leu332Phe)
c.1055A>C
c.2187A>C (p.Leu729Phe)
c.3315A>C (p.Leu1105Phe)
c.230A>C
c.3495A>C (p.Leu1165Phe)
c.3162A>C (p.Leu1054Phe)
7g.117614650A>GCA457230179CFTRc.3405A>G (p.Leu1135=)
c.*3119A>G (n.*3119A>G)
c.3222A>G (p.Leu1074=)
c.*1780A>G (n.*1780A>G)
c.3399A>G (p.Leu1133=)
c.*3229A>G (n.*3229A>G)
c.2979A>G (p.Leu993=)
c.153A>G (p.Leu51=)
c.996A>G (p.Leu332=)
c.1055A>G
c.2187A>G (p.Leu729=)
c.3315A>G (p.Leu1105=)
c.230A>G
c.3495A>G (p.Leu1165=)
c.3162A>G (p.Leu1054=)
 ClinVar
7g.117614650A>TCA368993430CFTRc.3405A>T (p.Leu1135Phe)
c.*3119A>T (n.*3119A>T)
c.3222A>T (p.Leu1074Phe)
c.*1780A>T (n.*1780A>T)
c.3399A>T (p.Leu1133Phe)
c.*3229A>T (n.*3229A>T)
c.2979A>T (p.Leu993Phe)
c.153A>T (p.Leu51Phe)
c.996A>T (p.Leu332Phe)
c.1055A>T
c.2187A>T (p.Leu729Phe)
c.3315A>T (p.Leu1105Phe)
c.230A>T
c.3495A>T (p.Leu1165Phe)
c.3162A>T (p.Leu1054Phe)
7g.117614652_117614667delCA1737392036CFTRc.3407_3422del (p.Ala1136ValfsTer7)
c.*3121_*3136del (n.*3121_*3136del)
c.3224_3239del (p.Ala1075ValfsTer7)
c.*1782_*1797del (n.*1782_*1797del)
c.3401_3416del (p.Ala1134ValfsTer7)
c.*3231_*3246del (n.*3231_*3246del)
c.2981_2996del (p.Ala994ValfsTer7)
c.155_170del (p.Ala52ValfsTer7)
c.998_1013del (p.Ala333ValfsTer7)
c.1057_1072del
c.2189_2204del (p.Ala730ValfsTer7)
c.3317_3332del (p.Ala1106ValfsTer7)
c.232_247del
c.3497_3512del (p.Ala1166ValfsTer7)
c.3164_3179del (p.Ala1055ValfsTer7)
 ClinVar dbSNP
7g.117614651G>ACA4451455CFTRc.3406G>A (p.Ala1136Thr)
c.*3120G>A (n.*3120G>A)
c.3223G>A (p.Ala1075Thr)
c.*1781G>A (n.*1781G>A)
c.3400G>A (p.Ala1134Thr)
c.*3230G>A (n.*3230G>A)
c.2980G>A (p.Ala994Thr)
c.154G>A (p.Ala52Thr)
c.997G>A (p.Ala333Thr)
c.1056G>A
c.2188G>A (p.Ala730Thr)
c.3316G>A (p.Ala1106Thr)
c.231G>A
c.3496G>A (p.Ala1166Thr)
c.3163G>A (p.Ala1055Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614651G>CCA368993436CFTRc.3406G>C (p.Ala1136Pro)
c.*3120G>C (n.*3120G>C)
c.3223G>C (p.Ala1075Pro)
c.*1781G>C (n.*1781G>C)
c.3400G>C (p.Ala1134Pro)
c.*3230G>C (n.*3230G>C)
c.2980G>C (p.Ala994Pro)
c.154G>C (p.Ala52Pro)
c.997G>C (p.Ala333Pro)
c.1056G>C
c.2188G>C (p.Ala730Pro)
c.3316G>C (p.Ala1106Pro)
c.231G>C
c.3496G>C (p.Ala1166Pro)
c.3163G>C (p.Ala1055Pro)
7g.117614651G=CA1737392040CFTRc.3406G= (p.Ala1136=)
c.*3120G= (n.*3120G=)
c.3223G= (p.Ala1075=)
c.*1781G= (n.*1781G=)
c.3400G= (p.Ala1134=)
c.*3230G= (n.*3230G=)
c.2980G= (p.Ala994=)
c.154G= (p.Ala52=)
c.997G= (p.Ala333=)
c.1056G=
c.2188G= (p.Ala730=)
c.3316G= (p.Ala1106=)
c.231G=
c.3496G= (p.Ala1166=)
c.3163G= (p.Ala1055=)
7g.117614651G>TCA368993438CFTRc.3406G>T (p.Ala1136Ser)
c.*3120G>T (n.*3120G>T)
c.3223G>T (p.Ala1075Ser)
c.*1781G>T (n.*1781G>T)
c.3400G>T (p.Ala1134Ser)
c.*3230G>T (n.*3230G>T)
c.2980G>T (p.Ala994Ser)
c.154G>T (p.Ala52Ser)
c.997G>T (p.Ala333Ser)
c.1056G>T
c.2188G>T (p.Ala730Ser)
c.3316G>T (p.Ala1106Ser)
c.231G>T
c.3496G>T (p.Ala1166Ser)
c.3163G>T (p.Ala1055Ser)
7g.117614652C>ACA368993442CFTRc.3407C>A (p.Ala1136Asp)
c.*3121C>A (n.*3121C>A)
c.3224C>A (p.Ala1075Asp)
c.*1782C>A (n.*1782C>A)
c.3401C>A (p.Ala1134Asp)
c.*3231C>A (n.*3231C>A)
c.2981C>A (p.Ala994Asp)
c.155C>A (p.Ala52Asp)
c.998C>A (p.Ala333Asp)
c.1057C>A
c.2189C>A (p.Ala730Asp)
c.3317C>A (p.Ala1106Asp)
c.232C>A
c.3497C>A (p.Ala1166Asp)
c.3164C>A (p.Ala1055Asp)
7g.117614652C=CA1737392049CFTRc.3407C= (p.Ala1136=)
c.*3121C= (n.*3121C=)
c.3224C= (p.Ala1075=)
c.*1782C= (n.*1782C=)
c.3401C= (p.Ala1134=)
c.*3231C= (n.*3231C=)
c.2981C= (p.Ala994=)
c.155C= (p.Ala52=)
c.998C= (p.Ala333=)
c.1057C=
c.2189C= (p.Ala730=)
c.3317C= (p.Ala1106=)
c.232C=
c.3497C= (p.Ala1166=)
c.3164C= (p.Ala1055=)
7g.117614652C>GCA368993444CFTRc.3407C>G (p.Ala1136Gly)
c.*3121C>G (n.*3121C>G)
c.3224C>G (p.Ala1075Gly)
c.*1782C>G (n.*1782C>G)
c.3401C>G (p.Ala1134Gly)
c.*3231C>G (n.*3231C>G)
c.2981C>G (p.Ala994Gly)
c.155C>G (p.Ala52Gly)
c.998C>G (p.Ala333Gly)
c.1057C>G
c.2189C>G (p.Ala730Gly)
c.3317C>G (p.Ala1106Gly)
c.232C>G
c.3497C>G (p.Ala1166Gly)
c.3164C>G (p.Ala1055Gly)
7g.117614652C>TCA368993447CFTRc.3407C>T (p.Ala1136Val)
c.*3121C>T (n.*3121C>T)
c.3224C>T (p.Ala1075Val)
c.*1782C>T (n.*1782C>T)
c.3401C>T (p.Ala1134Val)
c.*3231C>T (n.*3231C>T)
c.2981C>T (p.Ala994Val)
c.155C>T (p.Ala52Val)
c.998C>T (p.Ala333Val)
c.1057C>T
c.2189C>T (p.Ala730Val)
c.3317C>T (p.Ala1106Val)
c.232C>T
c.3497C>T (p.Ala1166Val)
c.3164C>T (p.Ala1055Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117614653C>ACA457230181CFTRc.3408C>A (p.Ala1136=)
c.*3122C>A (n.*3122C>A)
c.3225C>A (p.Ala1075=)
c.*1783C>A (n.*1783C>A)
c.3402C>A (p.Ala1134=)
c.*3232C>A (n.*3232C>A)
c.2982C>A (p.Ala994=)
c.156C>A (p.Ala52=)
c.999C>A (p.Ala333=)
c.1058C>A
c.2190C>A (p.Ala730=)
c.3318C>A (p.Ala1106=)
c.233C>A
c.3498C>A (p.Ala1166=)
c.3165C>A (p.Ala1055=)
7g.117614653C>GCA457230182CFTRc.3408C>G (p.Ala1136=)
c.*3122C>G (n.*3122C>G)
c.3225C>G (p.Ala1075=)
c.*1783C>G (n.*1783C>G)
c.3402C>G (p.Ala1134=)
c.*3232C>G (n.*3232C>G)
c.2982C>G (p.Ala994=)
c.156C>G (p.Ala52=)
c.999C>G (p.Ala333=)
c.1058C>G
c.2190C>G (p.Ala730=)
c.3318C>G (p.Ala1106=)
c.233C>G
c.3498C>G (p.Ala1166=)
c.3165C>G (p.Ala1055=)
7g.117614653C>TCA457230183CFTRc.3408C>T (p.Ala1136=)
c.*3122C>T (n.*3122C>T)
c.3225C>T (p.Ala1075=)
c.*1783C>T (n.*1783C>T)
c.3402C>T (p.Ala1134=)
c.*3232C>T (n.*3232C>T)
c.2982C>T (p.Ala994=)
c.156C>T (p.Ala52=)
c.999C>T (p.Ala333=)
c.1058C>T
c.2190C>T (p.Ala730=)
c.3318C>T (p.Ala1106=)
c.233C>T
c.3498C>T (p.Ala1166=)
c.3165C>T (p.Ala1055=)
 ClinVar
7g.117614654A=CA1737392058CFTRc.3409A= (p.Met1137=)
c.*3123A= (n.*3123A=)
c.3226A= (p.Met1076=)
c.*1784A= (n.*1784A=)
c.3403A= (p.Met1135=)
c.*3233A= (n.*3233A=)
c.2983A= (p.Met995=)
c.157A= (p.Met53=)
c.1000A= (p.Met334=)
c.1059A=
c.2191A= (p.Met731=)
c.3319A= (p.Met1107=)
c.234A=
c.3499A= (p.Met1167=)
c.3166A= (p.Met1056=)
7g.117614654A>CCA368993450CFTRc.3409A>C (p.Met1137Leu)
c.*3123A>C (n.*3123A>C)
c.3226A>C (p.Met1076Leu)
c.*1784A>C (n.*1784A>C)
c.3403A>C (p.Met1135Leu)
c.*3233A>C (n.*3233A>C)
c.2983A>C (p.Met995Leu)
c.157A>C (p.Met53Leu)
c.1000A>C (p.Met334Leu)
c.1059A>C
c.2191A>C (p.Met731Leu)
c.3319A>C (p.Met1107Leu)
c.234A>C
c.3499A>C (p.Met1167Leu)
c.3166A>C (p.Met1056Leu)
7g.117614654A>GCA327169CFTRc.3409A>G (p.Met1137Val)
c.*3123A>G (n.*3123A>G)
c.3226A>G (p.Met1076Val)
c.*1784A>G (n.*1784A>G)
c.3403A>G (p.Met1135Val)
c.*3233A>G (n.*3233A>G)
c.2983A>G (p.Met995Val)
c.157A>G (p.Met53Val)
c.1000A>G (p.Met334Val)
c.1059A>G
c.2191A>G (p.Met731Val)
c.3319A>G (p.Met1107Val)
c.234A>G
c.3499A>G (p.Met1167Val)
c.3166A>G (p.Met1056Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614654A>TCA368993455CFTRc.3409A>T (p.Met1137Leu)
c.*3123A>T (n.*3123A>T)
c.3226A>T (p.Met1076Leu)
c.*1784A>T (n.*1784A>T)
c.3403A>T (p.Met1135Leu)
c.*3233A>T (n.*3233A>T)
c.2983A>T (p.Met995Leu)
c.157A>T (p.Met53Leu)
c.1000A>T (p.Met334Leu)
c.1059A>T
c.2191A>T (p.Met731Leu)
c.3319A>T (p.Met1107Leu)
c.234A>T
c.3499A>T (p.Met1167Leu)
c.3166A>T (p.Met1056Leu)
7g.117614656_117614659delCA2580076399CFTRc.3411_3414del (p.Met1137IlefsTer3)
c.*3125_*3128del (n.*3125_*3128del)
c.3228_3231del (p.Met1076IlefsTer3)
c.*1786_*1789del (n.*1786_*1789del)
c.3405_3408del (p.Met1135IlefsTer3)
c.*3235_*3238del (n.*3235_*3238del)
c.2985_2988del (p.Met995IlefsTer3)
c.159_162del (p.Met53IlefsTer3)
c.1002_1005del (p.Met334IlefsTer3)
c.1061_1064del
c.2193_2196del (p.Met731IlefsTer3)
c.3321_3324del (p.Met1107IlefsTer3)
c.236_239del
c.3501_3504del (p.Met1167IlefsTer3)
c.3168_3171del (p.Met1056IlefsTer3)
 ClinVar
7g.117614655T>ACA368993458CFTRc.3410T>A (p.Met1137Lys)
c.*3124T>A (n.*3124T>A)
c.3227T>A (p.Met1076Lys)
c.*1785T>A (n.*1785T>A)
c.3404T>A (p.Met1135Lys)
c.*3234T>A (n.*3234T>A)
c.2984T>A (p.Met995Lys)
c.158T>A (p.Met53Lys)
c.1001T>A (p.Met334Lys)
c.1060T>A
c.2192T>A (p.Met731Lys)
c.3320T>A (p.Met1107Lys)
c.235T>A
c.3500T>A (p.Met1167Lys)
c.3167T>A (p.Met1056Lys)
7g.117614655T>CCA4451456CFTRc.3410T>C (p.Met1137Thr)
c.*3124T>C (n.*3124T>C)
c.3227T>C (p.Met1076Thr)
c.*1785T>C (n.*1785T>C)
c.3404T>C (p.Met1135Thr)
c.*3234T>C (n.*3234T>C)
c.2984T>C (p.Met995Thr)
c.158T>C (p.Met53Thr)
c.1001T>C (p.Met334Thr)
c.1060T>C
c.2192T>C (p.Met731Thr)
c.3320T>C (p.Met1107Thr)
c.235T>C
c.3500T>C (p.Met1167Thr)
c.3167T>C (p.Met1056Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614655T>GCA327172CFTRc.3410T>G (p.Met1137Arg)
c.*3124T>G (n.*3124T>G)
c.3227T>G (p.Met1076Arg)
c.*1785T>G (n.*1785T>G)
c.3404T>G (p.Met1135Arg)
c.*3234T>G (n.*3234T>G)
c.2984T>G (p.Met995Arg)
c.158T>G (p.Met53Arg)
c.1001T>G (p.Met334Arg)
c.1060T>G
c.2192T>G (p.Met731Arg)
c.3320T>G (p.Met1107Arg)
c.235T>G
c.3500T>G (p.Met1167Arg)
c.3167T>G (p.Met1056Arg)
 ClinVar dbSNP
7g.117614655T=CA1737392068CFTRc.3410T= (p.Met1137=)
c.*3124T= (n.*3124T=)
c.3227T= (p.Met1076=)
c.*1785T= (n.*1785T=)
c.3404T= (p.Met1135=)
c.*3234T= (n.*3234T=)
c.2984T= (p.Met995=)
c.158T= (p.Met53=)
c.1001T= (p.Met334=)
c.1060T=
c.2192T= (p.Met731=)
c.3320T= (p.Met1107=)
c.235T=
c.3500T= (p.Met1167=)
c.3167T= (p.Met1056=)
7g.117614656G>ACA368993465CFTRc.3411G>A (p.Met1137Ile)
c.*3125G>A (n.*3125G>A)
c.3228G>A (p.Met1076Ile)
c.*1786G>A (n.*1786G>A)
c.3405G>A (p.Met1135Ile)
c.*3235G>A (n.*3235G>A)
c.2985G>A (p.Met995Ile)
c.159G>A (p.Met53Ile)
c.1002G>A (p.Met334Ile)
c.1061G>A
c.2193G>A (p.Met731Ile)
c.3321G>A (p.Met1107Ile)
c.236G>A
c.3501G>A (p.Met1167Ile)
c.3168G>A (p.Met1056Ile)
7g.117614656G>CCA164968816CFTRc.3411G>C (p.Met1137Ile)
c.*3125G>C (n.*3125G>C)
c.3228G>C (p.Met1076Ile)
c.*1786G>C (n.*1786G>C)
c.3405G>C (p.Met1135Ile)
c.*3235G>C (n.*3235G>C)
c.2985G>C (p.Met995Ile)
c.159G>C (p.Met53Ile)
c.1002G>C (p.Met334Ile)
c.1061G>C
c.2193G>C (p.Met731Ile)
c.3321G>C (p.Met1107Ile)
c.236G>C
c.3501G>C (p.Met1167Ile)
c.3168G>C (p.Met1056Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117614656G=CA1737392079CFTRc.3411G= (p.Met1137=)
c.*3125G= (n.*3125G=)
c.3228G= (p.Met1076=)
c.*1786G= (n.*1786G=)
c.3405G= (p.Met1135=)
c.*3235G= (n.*3235G=)
c.2985G= (p.Met995=)
c.159G= (p.Met53=)
c.1002G= (p.Met334=)
c.1061G=
c.2193G= (p.Met731=)
c.3321G= (p.Met1107=)
c.236G=
c.3501G= (p.Met1167=)
c.3168G= (p.Met1056=)
7g.117614656G>TCA368993463CFTRc.3411G>T (p.Met1137Ile)
c.*3125G>T (n.*3125G>T)
c.3228G>T (p.Met1076Ile)
c.*1786G>T (n.*1786G>T)
c.3405G>T (p.Met1135Ile)
c.*3235G>T (n.*3235G>T)
c.2985G>T (p.Met995Ile)
c.159G>T (p.Met53Ile)
c.1002G>T (p.Met334Ile)
c.1061G>T
c.2193G>T (p.Met731Ile)
c.3321G>T (p.Met1107Ile)
c.236G>T
c.3501G>T (p.Met1167Ile)
c.3168G>T (p.Met1056Ile)
7g.117614657A=CA1737392084CFTRc.3412A= (p.Asn1138=)
c.*3126A= (n.*3126A=)
c.3229A= (p.Asn1077=)
c.*1787A= (n.*1787A=)
c.3406A= (p.Asn1136=)
c.*3236A= (n.*3236A=)
c.2986A= (p.Asn996=)
c.160A= (p.Asn54=)
c.1003A= (p.Asn335=)
c.1062A=
c.2194A= (p.Asn732=)
c.3322A= (p.Asn1108=)
c.237A=
c.3502A= (p.Asn1168=)
c.3169A= (p.Asn1057=)
7g.117614657A>CCA368993470CFTRc.3412A>C (p.Asn1138His)
c.*3126A>C (n.*3126A>C)
c.3229A>C (p.Asn1077His)
c.*1787A>C (n.*1787A>C)
c.3406A>C (p.Asn1136His)
c.*3236A>C (n.*3236A>C)
c.2986A>C (p.Asn996His)
c.160A>C (p.Asn54His)
c.1003A>C (p.Asn335His)
c.1062A>C
c.2194A>C (p.Asn732His)
c.3322A>C (p.Asn1108His)
c.237A>C
c.3502A>C (p.Asn1168His)
c.3169A>C (p.Asn1057His)
 dbSNP
7g.117614657A>GCA368993472CFTRc.3412A>G (p.Asn1138Asp)
c.*3126A>G (n.*3126A>G)
c.3229A>G (p.Asn1077Asp)
c.*1787A>G (n.*1787A>G)
c.3406A>G (p.Asn1136Asp)
c.*3236A>G (n.*3236A>G)
c.2986A>G (p.Asn996Asp)
c.160A>G (p.Asn54Asp)
c.1003A>G (p.Asn335Asp)
c.1062A>G
c.2194A>G (p.Asn732Asp)
c.3322A>G (p.Asn1108Asp)
c.237A>G
c.3502A>G (p.Asn1168Asp)
c.3169A>G (p.Asn1057Asp)
7g.117614657A>TCA368993474CFTRc.3412A>T (p.Asn1138Tyr)
c.*3126A>T (n.*3126A>T)
c.3229A>T (p.Asn1077Tyr)
c.*1787A>T (n.*1787A>T)
c.3406A>T (p.Asn1136Tyr)
c.*3236A>T (n.*3236A>T)
c.2986A>T (p.Asn996Tyr)
c.160A>T (p.Asn54Tyr)
c.1003A>T (p.Asn335Tyr)
c.1062A>T
c.2194A>T (p.Asn732Tyr)
c.3322A>T (p.Asn1108Tyr)
c.237A>T
c.3502A>T (p.Asn1168Tyr)
c.3169A>T (p.Asn1057Tyr)
7g.117614658A>CCA368993477CFTRc.3413A>C (p.Asn1138Thr)
c.*3127A>C (n.*3127A>C)
c.3230A>C (p.Asn1077Thr)
c.*1788A>C (n.*1788A>C)
c.3407A>C (p.Asn1136Thr)
c.*3237A>C (n.*3237A>C)
c.2987A>C (p.Asn996Thr)
c.161A>C (p.Asn54Thr)
c.1004A>C (p.Asn335Thr)
c.1063A>C
c.2195A>C (p.Asn732Thr)
c.3323A>C (p.Asn1108Thr)
c.238A>C
c.3503A>C (p.Asn1168Thr)
c.3170A>C (p.Asn1057Thr)
7g.117614658A>GCA368993480CFTRc.3413A>G (p.Asn1138Ser)
c.*3127A>G (n.*3127A>G)
c.3230A>G (p.Asn1077Ser)
c.*1788A>G (n.*1788A>G)
c.3407A>G (p.Asn1136Ser)
c.*3237A>G (n.*3237A>G)
c.2987A>G (p.Asn996Ser)
c.161A>G (p.Asn54Ser)
c.1004A>G (p.Asn335Ser)
c.1063A>G
c.2195A>G (p.Asn732Ser)
c.3323A>G (p.Asn1108Ser)
c.238A>G
c.3503A>G (p.Asn1168Ser)
c.3170A>G (p.Asn1057Ser)
 ClinVar gnomAD v4
7g.117614658A>TCA368993482CFTRc.3413A>T (p.Asn1138Ile)
c.*3127A>T (n.*3127A>T)
c.3230A>T (p.Asn1077Ile)
c.*1788A>T (n.*1788A>T)
c.3407A>T (p.Asn1136Ile)
c.*3237A>T (n.*3237A>T)
c.2987A>T (p.Asn996Ile)
c.161A>T (p.Asn54Ile)
c.1004A>T (p.Asn335Ile)
c.1063A>T
c.2195A>T (p.Asn732Ile)
c.3323A>T (p.Asn1108Ile)
c.238A>T
c.3503A>T (p.Asn1168Ile)
c.3170A>T (p.Asn1057Ile)
7g.117614659T>ACA368993485CFTRc.3414T>A (p.Asn1138Lys)
c.*3128T>A (n.*3128T>A)
c.3231T>A (p.Asn1077Lys)
c.*1789T>A (n.*1789T>A)
c.3408T>A (p.Asn1136Lys)
c.*3238T>A (n.*3238T>A)
c.2988T>A (p.Asn996Lys)
c.162T>A (p.Asn54Lys)
c.1005T>A (p.Asn335Lys)
c.1064T>A
c.2196T>A (p.Asn732Lys)
c.3324T>A (p.Asn1108Lys)
c.239T>A
c.3504T>A (p.Asn1168Lys)
c.3171T>A (p.Asn1057Lys)
7g.117614659T>CCA457230184CFTRc.3414T>C (p.Asn1138=)
c.*3128T>C (n.*3128T>C)
c.3231T>C (p.Asn1077=)
c.*1789T>C (n.*1789T>C)
c.3408T>C (p.Asn1136=)
c.*3238T>C (n.*3238T>C)
c.2988T>C (p.Asn996=)
c.162T>C (p.Asn54=)
c.1005T>C (p.Asn335=)
c.1064T>C
c.2196T>C (p.Asn732=)
c.3324T>C (p.Asn1108=)
c.239T>C
c.3504T>C (p.Asn1168=)
c.3171T>C (p.Asn1057=)
7g.117614659T>GCA368993487CFTRc.3414T>G (p.Asn1138Lys)
c.*3128T>G (n.*3128T>G)
c.3231T>G (p.Asn1077Lys)
c.*1789T>G (n.*1789T>G)
c.3408T>G (p.Asn1136Lys)
c.*3238T>G (n.*3238T>G)
c.2988T>G (p.Asn996Lys)
c.162T>G (p.Asn54Lys)
c.1005T>G (p.Asn335Lys)
c.1064T>G
c.2196T>G (p.Asn732Lys)
c.3324T>G (p.Asn1108Lys)
c.239T>G
c.3504T>G (p.Asn1168Lys)
c.3171T>G (p.Asn1057Lys)
7g.117614659_117614662delinsTATCCA1737392087CFTRc.3414_3417delinsTATC (p.Asn1138=)
c.*3128_*3131delinsTATC (n.*3128_*3131delinsTATC)
c.3231_3234delinsTATC (p.Asn1077=)
c.*1789_*1792delinsTATC (n.*1789_*1792delinsTATC)
c.3408_3411delinsTATC (p.Asn1136=)
c.*3238_*3241delinsTATC (n.*3238_*3241delinsTATC)
c.2988_2991delinsTATC (p.Asn996=)
c.162_165delinsTATC (p.Asn54=)
c.1005_1008delinsTATC (p.Asn335=)
c.1064_1067delinsTATC
c.2196_2199delinsTATC (p.Asn732=)
c.3324_3327delinsTATC (p.Asn1108=)
c.239_242delinsTATC
c.3504_3507delinsTATC (p.Asn1168=)
c.3171_3174delinsTATC (p.Asn1057=)
7g.117614660A=CA1737392096CFTRc.3415A= (p.Ile1139=)
c.*3129A= (n.*3129A=)
c.3232A= (p.Ile1078=)
c.*1790A= (n.*1790A=)
c.3409A= (p.Ile1137=)
c.*3239A= (n.*3239A=)
c.2989A= (p.Ile997=)
c.163A= (p.Ile55=)
c.1006A= (p.Ile336=)
c.1065A=
c.2197A= (p.Ile733=)
c.3325A= (p.Ile1109=)
c.240A=
c.3505A= (p.Ile1169=)
c.3172A= (p.Ile1058=)
7g.117614660A>CCA368993488CFTRc.3415A>C (p.Ile1139Leu)
c.*3129A>C (n.*3129A>C)
c.3232A>C (p.Ile1078Leu)
c.*1790A>C (n.*1790A>C)
c.3409A>C (p.Ile1137Leu)
c.*3239A>C (n.*3239A>C)
c.2989A>C (p.Ile997Leu)
c.163A>C (p.Ile55Leu)
c.1006A>C (p.Ile336Leu)
c.1065A>C
c.2197A>C (p.Ile733Leu)
c.3325A>C (p.Ile1109Leu)
c.240A>C
c.3505A>C (p.Ile1169Leu)
c.3172A>C (p.Ile1058Leu)
7g.117614660A>GCA327174CFTRc.3415A>G (p.Ile1139Val)
c.*3129A>G (n.*3129A>G)
c.3232A>G (p.Ile1078Val)
c.*1790A>G (n.*1790A>G)
c.3409A>G (p.Ile1137Val)
c.*3239A>G (n.*3239A>G)
c.2989A>G (p.Ile997Val)
c.163A>G (p.Ile55Val)
c.1006A>G (p.Ile336Val)
c.1065A>G
c.2197A>G (p.Ile733Val)
c.3325A>G (p.Ile1109Val)
c.240A>G
c.3505A>G (p.Ile1169Val)
c.3172A>G (p.Ile1058Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614660A>TCA368993491CFTRc.3415A>T (p.Ile1139Phe)
c.*3129A>T (n.*3129A>T)
c.3232A>T (p.Ile1078Phe)
c.*1790A>T (n.*1790A>T)
c.3409A>T (p.Ile1137Phe)
c.*3239A>T (n.*3239A>T)
c.2989A>T (p.Ile997Phe)
c.163A>T (p.Ile55Phe)
c.1006A>T (p.Ile336Phe)
c.1065A>T
c.2197A>T (p.Ile733Phe)
c.3325A>T (p.Ile1109Phe)
c.240A>T
c.3505A>T (p.Ile1169Phe)
c.3172A>T (p.Ile1058Phe)
7g.117614662_117614664delCA577222849CFTRc.3417_3419del (p.Ile1139del)
c.*3131_*3133del (n.*3131_*3133del)
c.3234_3236del (p.Ile1078del)
c.*1792_*1794del (n.*1792_*1794del)
c.3411_3413del (p.Ile1137del)
c.*3241_*3243del (n.*3241_*3243del)
c.2991_2993del (p.Ile997del)
c.165_167del (p.Ile55del)
c.1008_1010del (p.Ile336del)
c.1067_1069del
c.2199_2201del (p.Ile733del)
c.3327_3329del (p.Ile1109del)
c.242_244del
c.3507_3509del (p.Ile1169del)
c.3174_3176del (p.Ile1058del)
 dbSNP gnomAD v2 gnomAD v4
7g.117614661T>ACA368993494CFTRc.3416T>A (p.Ile1139Asn)
c.*3130T>A (n.*3130T>A)
c.3233T>A (p.Ile1078Asn)
c.*1791T>A (n.*1791T>A)
c.3410T>A (p.Ile1137Asn)
c.*3240T>A (n.*3240T>A)
c.2990T>A (p.Ile997Asn)
c.164T>A (p.Ile55Asn)
c.1007T>A (p.Ile336Asn)
c.1066T>A
c.2198T>A (p.Ile733Asn)
c.3326T>A (p.Ile1109Asn)
c.241T>A
c.3506T>A (p.Ile1169Asn)
c.3173T>A (p.Ile1058Asn)
7g.117614661T>CCA368993495CFTRc.3416T>C (p.Ile1139Thr)
c.*3130T>C (n.*3130T>C)
c.3233T>C (p.Ile1078Thr)
c.*1791T>C (n.*1791T>C)
c.3410T>C (p.Ile1137Thr)
c.*3240T>C (n.*3240T>C)
c.2990T>C (p.Ile997Thr)
c.164T>C (p.Ile55Thr)
c.1007T>C (p.Ile336Thr)
c.1066T>C
c.2198T>C (p.Ile733Thr)
c.3326T>C (p.Ile1109Thr)
c.241T>C
c.3506T>C (p.Ile1169Thr)
c.3173T>C (p.Ile1058Thr)
7g.117614661T>GCA368993497CFTRc.3416T>G (p.Ile1139Ser)
c.*3130T>G (n.*3130T>G)
c.3233T>G (p.Ile1078Ser)
c.*1791T>G (n.*1791T>G)
c.3410T>G (p.Ile1137Ser)
c.*3240T>G (n.*3240T>G)
c.2990T>G (p.Ile997Ser)
c.164T>G (p.Ile55Ser)
c.1007T>G (p.Ile336Ser)
c.1066T>G
c.2198T>G (p.Ile733Ser)
c.3326T>G (p.Ile1109Ser)
c.241T>G
c.3506T>G (p.Ile1169Ser)
c.3173T>G (p.Ile1058Ser)
7g.117614662C>ACA457230186CFTRc.3417C>A (p.Ile1139=)
c.*3131C>A (n.*3131C>A)
c.3234C>A (p.Ile1078=)
c.*1792C>A (n.*1792C>A)
c.3411C>A (p.Ile1137=)
c.*3241C>A (n.*3241C>A)
c.2991C>A (p.Ile997=)
c.165C>A (p.Ile55=)
c.1008C>A (p.Ile336=)
c.1067C>A
c.2199C>A (p.Ile733=)
c.3327C>A (p.Ile1109=)
c.242C>A
c.3507C>A (p.Ile1169=)
c.3174C>A (p.Ile1058=)
7g.117614662C>GCA368993499CFTRc.3417C>G (p.Ile1139Met)
c.*3131C>G (n.*3131C>G)
c.3234C>G (p.Ile1078Met)
c.*1792C>G (n.*1792C>G)
c.3411C>G (p.Ile1137Met)
c.*3241C>G (n.*3241C>G)
c.2991C>G (p.Ile997Met)
c.165C>G (p.Ile55Met)
c.1008C>G (p.Ile336Met)
c.1067C>G
c.2199C>G (p.Ile733Met)
c.3327C>G (p.Ile1109Met)
c.242C>G
c.3507C>G (p.Ile1169Met)
c.3174C>G (p.Ile1058Met)
7g.117614662C>TCA457230185CFTRc.3417C>T (p.Ile1139=)
c.*3131C>T (n.*3131C>T)
c.3234C>T (p.Ile1078=)
c.*1792C>T (n.*1792C>T)
c.3411C>T (p.Ile1137=)
c.*3241C>T (n.*3241C>T)
c.2991C>T (p.Ile997=)
c.165C>T (p.Ile55=)
c.1008C>T (p.Ile336=)
c.1067C>T
c.2199C>T (p.Ile733=)
c.3327C>T (p.Ile1109=)
c.242C>T
c.3507C>T (p.Ile1169=)
c.3174C>T (p.Ile1058=)
7g.117614662_117614665delinsCATGCA1737392104CFTRc.3417_3420delinsCATG (p.Ile1139=)
c.*3131_*3134delinsCATG (n.*3131_*3134delinsCATG)
c.3234_3237delinsCATG (p.Ile1078=)
c.*1792_*1795delinsCATG (n.*1792_*1795delinsCATG)
c.3411_3414delinsCATG (p.Ile1137=)
c.*3241_*3244delinsCATG (n.*3241_*3244delinsCATG)
c.2991_2994delinsCATG (p.Ile997=)
c.165_168delinsCATG (p.Ile55=)
c.1008_1011delinsCATG (p.Ile336=)
c.1067_1070delinsCATG
c.2199_2202delinsCATG (p.Ile733=)
c.3327_3330delinsCATG (p.Ile1109=)
c.242_245delinsCATG
c.3507_3510delinsCATG (p.Ile1169=)
c.3174_3177delinsCATG (p.Ile1058=)
7g.117614663A=CA1737392111CFTRc.3418A= (p.Met1140=)
c.*3132A= (n.*3132A=)
c.3235A= (p.Met1079=)
c.*1793A= (n.*1793A=)
c.3412A= (p.Met1138=)
c.*3242A= (n.*3242A=)
c.2992A= (p.Met998=)
c.166A= (p.Met56=)
c.1009A= (p.Met337=)
c.1068A=
c.2200A= (p.Met734=)
c.3328A= (p.Met1110=)
c.243A=
c.3508A= (p.Met1170=)
c.3175A= (p.Met1059=)
7g.117614663A>CCA368993503CFTRc.3418A>C (p.Met1140Leu)
c.*3132A>C (n.*3132A>C)
c.3235A>C (p.Met1079Leu)
c.*1793A>C (n.*1793A>C)
c.3412A>C (p.Met1138Leu)
c.*3242A>C (n.*3242A>C)
c.2992A>C (p.Met998Leu)
c.166A>C (p.Met56Leu)
c.1009A>C (p.Met337Leu)
c.1068A>C
c.2200A>C (p.Met734Leu)
c.3328A>C (p.Met1110Leu)
c.243A>C
c.3508A>C (p.Met1170Leu)
c.3175A>C (p.Met1059Leu)
 gnomAD v4
7g.117614663A>GCA4451457CFTRc.3418A>G (p.Met1140Val)
c.*3132A>G (n.*3132A>G)
c.3235A>G (p.Met1079Val)
c.*1793A>G (n.*1793A>G)
c.3412A>G (p.Met1138Val)
c.*3242A>G (n.*3242A>G)
c.2992A>G (p.Met998Val)
c.166A>G (p.Met56Val)
c.1009A>G (p.Met337Val)
c.1068A>G
c.2200A>G (p.Met734Val)
c.3328A>G (p.Met1110Val)
c.243A>G
c.3508A>G (p.Met1170Val)
c.3175A>G (p.Met1059Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614663A>TCA368993506CFTRc.3418A>T (p.Met1140Leu)
c.*3132A>T (n.*3132A>T)
c.3235A>T (p.Met1079Leu)
c.*1793A>T (n.*1793A>T)
c.3412A>T (p.Met1138Leu)
c.*3242A>T (n.*3242A>T)
c.2992A>T (p.Met998Leu)
c.166A>T (p.Met56Leu)
c.1009A>T (p.Met337Leu)
c.1068A>T
c.2200A>T (p.Met734Leu)
c.3328A>T (p.Met1110Leu)
c.243A>T
c.3508A>T (p.Met1170Leu)
c.3175A>T (p.Met1059Leu)
 ClinVar
7g.117614664_117614666delCA327176CFTRc.3419_3421del (p.Met1140del)
c.*3133_*3135del (n.*3133_*3135del)
c.3236_3238del (p.Met1079del)
c.*1794_*1796del (n.*1794_*1796del)
c.3413_3415del (p.Met1138del)
c.*3243_*3245del (n.*3243_*3245del)
c.2993_2995del (p.Met998del)
c.167_169del (p.Met56del)
c.1010_1012del (p.Met337del)
c.1069_1071del
c.2201_2203del (p.Met734del)
c.3329_3331del (p.Met1110del)
c.244_246del
c.3509_3511del (p.Met1170del)
c.3176_3178del (p.Met1059del)
 ClinVar dbSNP
7g.117614664T>ACA327178CFTRc.3419T>A (p.Met1140Lys)
c.*3133T>A (n.*3133T>A)
c.3236T>A (p.Met1079Lys)
c.*1794T>A (n.*1794T>A)
c.3413T>A (p.Met1138Lys)
c.*3243T>A (n.*3243T>A)
c.2993T>A (p.Met998Lys)
c.167T>A (p.Met56Lys)
c.1010T>A (p.Met337Lys)
c.1T>A
c.1069T>A
c.2201T>A (p.Met734Lys)
c.3329T>A (p.Met1110Lys)
c.244T>A
c.3509T>A (p.Met1170Lys)
c.3176T>A (p.Met1059Lys)
 ClinVar dbSNP
7g.117614664T>CCA368993513CFTRc.3419T>C (p.Met1140Thr)
c.*3133T>C (n.*3133T>C)
c.3236T>C (p.Met1079Thr)
c.*1794T>C (n.*1794T>C)
c.3413T>C (p.Met1138Thr)
c.*3243T>C (n.*3243T>C)
c.2993T>C (p.Met998Thr)
c.167T>C (p.Met56Thr)
c.1010T>C (p.Met337Thr)
c.1T>C
c.1069T>C
c.2201T>C (p.Met734Thr)
c.3329T>C (p.Met1110Thr)
c.244T>C
c.3509T>C (p.Met1170Thr)
c.3176T>C (p.Met1059Thr)
7g.117614664T>GCA368993511CFTRc.3419T>G (p.Met1140Arg)
c.*3133T>G (n.*3133T>G)
c.3236T>G (p.Met1079Arg)
c.*1794T>G (n.*1794T>G)
c.3413T>G (p.Met1138Arg)
c.*3243T>G (n.*3243T>G)
c.2993T>G (p.Met998Arg)
c.167T>G (p.Met56Arg)
c.1010T>G (p.Met337Arg)
c.1T>G
c.1069T>G
c.2201T>G (p.Met734Arg)
c.3329T>G (p.Met1110Arg)
c.244T>G
c.3509T>G (p.Met1170Arg)
c.3176T>G (p.Met1059Arg)
7g.117614664T=CA1737392118CFTRc.3419T= (p.Met1140=)
c.*3133T= (n.*3133T=)
c.3236T= (p.Met1079=)
c.*1794T= (n.*1794T=)
c.3413T= (p.Met1138=)
c.*3243T= (n.*3243T=)
c.2993T= (p.Met998=)
c.167T= (p.Met56=)
c.1010T= (p.Met337=)
c.1T=
c.1069T=
c.2201T= (p.Met734=)
c.3329T= (p.Met1110=)
c.244T=
c.3509T= (p.Met1170=)
c.3176T= (p.Met1059=)
7g.117614665G>ACA368993516CFTRc.3420G>A (p.Met1140Ile)
c.*3134G>A (n.*3134G>A)
c.3237G>A (p.Met1079Ile)
c.*1795G>A (n.*1795G>A)
c.3414G>A (p.Met1138Ile)
c.*3244G>A (n.*3244G>A)
c.2994G>A (p.Met998Ile)
c.168G>A (p.Met56Ile)
c.1011G>A (p.Met337Ile)
c.2G>A
c.1070G>A
c.2202G>A (p.Met734Ile)
c.3330G>A (p.Met1110Ile)
c.245G>A
c.3510G>A (p.Met1170Ile)
c.3177G>A (p.Met1059Ile)
 ClinVar dbSNP gnomAD v4
7g.117614665G>CCA368993520CFTRc.3420G>C (p.Met1140Ile)
c.*3134G>C (n.*3134G>C)
c.3237G>C (p.Met1079Ile)
c.*1795G>C (n.*1795G>C)
c.3414G>C (p.Met1138Ile)
c.*3244G>C (n.*3244G>C)
c.2994G>C (p.Met998Ile)
c.168G>C (p.Met56Ile)
c.1011G>C (p.Met337Ile)
c.2G>C
c.1070G>C
c.2202G>C (p.Met734Ile)
c.3330G>C (p.Met1110Ile)
c.245G>C
c.3510G>C (p.Met1170Ile)
c.3177G>C (p.Met1059Ile)
 gnomAD v4
7g.117614665G=CA1737392124CFTRc.3420G= (p.Met1140=)
c.*3134G= (n.*3134G=)
c.3237G= (p.Met1079=)
c.*1795G= (n.*1795G=)
c.3414G= (p.Met1138=)
c.*3244G= (n.*3244G=)
c.2994G= (p.Met998=)
c.168G= (p.Met56=)
c.1011G= (p.Met337=)
c.2G=
c.1070G=
c.2202G= (p.Met734=)
c.3330G= (p.Met1110=)
c.245G=
c.3510G= (p.Met1170=)
c.3177G= (p.Met1059=)
7g.117614665G>TCA368993518CFTRc.3420G>T (p.Met1140Ile)
c.*3134G>T (n.*3134G>T)
c.3237G>T (p.Met1079Ile)
c.*1795G>T (n.*1795G>T)
c.3414G>T (p.Met1138Ile)
c.*3244G>T (n.*3244G>T)
c.2994G>T (p.Met998Ile)
c.168G>T (p.Met56Ile)
c.1011G>T (p.Met337Ile)
c.2G>T
c.1070G>T
c.2202G>T (p.Met734Ile)
c.3330G>T (p.Met1110Ile)
c.245G>T
c.3510G>T (p.Met1170Ile)
c.3177G>T (p.Met1059Ile)
7g.117614666A=CA1737392129CFTRc.3421A= (p.Ser1141=)
c.*3135A= (n.*3135A=)
c.3238A= (p.Ser1080=)
c.*1796A= (n.*1796A=)
c.3415A= (p.Ser1139=)
c.*3245A= (n.*3245A=)
c.2995A= (p.Ser999=)
c.169A= (p.Ser57=)
c.1012A= (p.Ser338=)
c.3A=
c.1071A=
c.2203A= (p.Ser735=)
c.3331A= (p.Ser1111=)
c.246A=
c.3511A= (p.Ser1171=)
c.3178A= (p.Ser1060=)
7g.117614666A>CCA368993523CFTRc.3421A>C (p.Ser1141Arg)
c.*3135A>C (n.*3135A>C)
c.3238A>C (p.Ser1080Arg)
c.*1796A>C (n.*1796A>C)
c.3415A>C (p.Ser1139Arg)
c.*3245A>C (n.*3245A>C)
c.2995A>C (p.Ser999Arg)
c.169A>C (p.Ser57Arg)
c.1012A>C (p.Ser338Arg)
c.3A>C
c.1071A>C
c.2203A>C (p.Ser735Arg)
c.3331A>C (p.Ser1111Arg)
c.246A>C
c.3511A>C (p.Ser1171Arg)
c.3178A>C (p.Ser1060Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.117614666A>GCA368993526CFTRc.3421A>G (p.Ser1141Gly)
c.*3135A>G (n.*3135A>G)
c.3238A>G (p.Ser1080Gly)
c.*1796A>G (n.*1796A>G)
c.3415A>G (p.Ser1139Gly)
c.*3245A>G (n.*3245A>G)
c.2995A>G (p.Ser999Gly)
c.169A>G (p.Ser57Gly)
c.1012A>G (p.Ser338Gly)
c.3A>G
c.1071A>G
c.2203A>G (p.Ser735Gly)
c.3331A>G (p.Ser1111Gly)
c.246A>G
c.3511A>G (p.Ser1171Gly)
c.3178A>G (p.Ser1060Gly)
7g.117614666A>TCA368993528CFTRc.3421A>T (p.Ser1141Cys)
c.*3135A>T (n.*3135A>T)
c.3238A>T (p.Ser1080Cys)
c.*1796A>T (n.*1796A>T)
c.3415A>T (p.Ser1139Cys)
c.*3245A>T (n.*3245A>T)
c.2995A>T (p.Ser999Cys)
c.169A>T (p.Ser57Cys)
c.1012A>T (p.Ser338Cys)
c.3A>T
c.1071A>T
c.2203A>T (p.Ser735Cys)
c.3331A>T (p.Ser1111Cys)
c.246A>T
c.3511A>T (p.Ser1171Cys)
c.3178A>T (p.Ser1060Cys)
7g.117614666_117614669dupCA327180CFTRc.3421_3424dup (p.Thr1142LysfsTer15)
c.*3135_*3138dup (n.*3135_*3138dup)
c.3238_3241dup (p.Thr1081LysfsTer15)
c.*1796_*1799dup (n.*1796_*1799dup)
c.3415_3418dup (p.Thr1140LysfsTer15)
c.*3245_*3248dup (n.*3245_*3248dup)
c.2995_2998dup (p.Thr1000LysfsTer15)
c.169_172dup (p.Thr58LysfsTer15)
c.1012_1015dup (p.Thr339LysfsTer15)
c.3_6dup
c.1071_1074dup
c.2203_2206dup (p.Thr736LysfsTer15)
c.3331_3334dup (p.Thr1112LysfsTer15)
c.246_249dup
c.3511_3514dup (p.Thr1172LysfsTer15)
c.3178_3181dup (p.Thr1061LysfsTer15)
 ClinVar dbSNP
7g.117614667G>ACA368993530CFTRc.3422G>A (p.Ser1141Asn)
c.*3136G>A (n.*3136G>A)
c.3239G>A (p.Ser1080Asn)
c.*1797G>A (n.*1797G>A)
c.3416G>A (p.Ser1139Asn)
c.*3246G>A (n.*3246G>A)
c.2996G>A (p.Ser999Asn)
c.170G>A (p.Ser57Asn)
c.1013G>A (p.Ser338Asn)
c.4G>A
c.1072G>A
c.2204G>A (p.Ser735Asn)
c.3332G>A (p.Ser1111Asn)
c.247G>A
c.3512G>A (p.Ser1171Asn)
c.3179G>A (p.Ser1060Asn)
 dbSNP gnomAD v3 gnomAD v4
7g.117614667G>CCA368993532CFTRc.3422G>C (p.Ser1141Thr)
c.*3136G>C (n.*3136G>C)
c.3239G>C (p.Ser1080Thr)
c.*1797G>C (n.*1797G>C)
c.3416G>C (p.Ser1139Thr)
c.*3246G>C (n.*3246G>C)
c.2996G>C (p.Ser999Thr)
c.170G>C (p.Ser57Thr)
c.1013G>C (p.Ser338Thr)
c.4G>C
c.1072G>C
c.2204G>C (p.Ser735Thr)
c.3332G>C (p.Ser1111Thr)
c.247G>C
c.3512G>C (p.Ser1171Thr)
c.3179G>C (p.Ser1060Thr)
7g.117614667G=CA1737392139CFTRc.3422G= (p.Ser1141=)
c.*3136G= (n.*3136G=)
c.3239G= (p.Ser1080=)
c.*1797G= (n.*1797G=)
c.3416G= (p.Ser1139=)
c.*3246G= (n.*3246G=)
c.2996G= (p.Ser999=)
c.170G= (p.Ser57=)
c.1013G= (p.Ser338=)
c.4G=
c.1072G=
c.2204G= (p.Ser735=)
c.3332G= (p.Ser1111=)
c.247G=
c.3512G= (p.Ser1171=)
c.3179G= (p.Ser1060=)
7g.117614667G>TCA368993534CFTRc.3422G>T (p.Ser1141Ile)
c.*3136G>T (n.*3136G>T)
c.3239G>T (p.Ser1080Ile)
c.*1797G>T (n.*1797G>T)
c.3416G>T (p.Ser1139Ile)
c.*3246G>T (n.*3246G>T)
c.2996G>T (p.Ser999Ile)
c.170G>T (p.Ser57Ile)
c.1013G>T (p.Ser338Ile)
c.4G>T
c.1072G>T
c.2204G>T (p.Ser735Ile)
c.3332G>T (p.Ser1111Ile)
c.247G>T
c.3512G>T (p.Ser1171Ile)
c.3179G>T (p.Ser1060Ile)
 COSMIC
7g.117614668T>ACA4451458CFTRc.3423T>A (p.Ser1141Arg)
c.*3137T>A (n.*3137T>A)
c.3240T>A (p.Ser1080Arg)
c.*1798T>A (n.*1798T>A)
c.3417T>A (p.Ser1139Arg)
c.*3247T>A (n.*3247T>A)
c.2997T>A (p.Ser999Arg)
c.171T>A (p.Ser57Arg)
c.1014T>A (p.Ser338Arg)
c.5T>A
c.1073T>A
c.2205T>A (p.Ser735Arg)
c.3333T>A (p.Ser1111Arg)
c.248T>A
c.3513T>A (p.Ser1171Arg)
c.3180T>A (p.Ser1060Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614668T>CCA457230187CFTRc.3423T>C (p.Ser1141=)
c.*3137T>C (n.*3137T>C)
c.3240T>C (p.Ser1080=)
c.*1798T>C (n.*1798T>C)
c.3417T>C (p.Ser1139=)
c.*3247T>C (n.*3247T>C)
c.2997T>C (p.Ser999=)
c.171T>C (p.Ser57=)
c.1014T>C (p.Ser338=)
c.5T>C
c.1073T>C
c.2205T>C (p.Ser735=)
c.3333T>C (p.Ser1111=)
c.248T>C
c.3513T>C (p.Ser1171=)
c.3180T>C (p.Ser1060=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117614668T>GCA368993538CFTRc.3423T>G (p.Ser1141Arg)
c.*3137T>G (n.*3137T>G)
c.3240T>G (p.Ser1080Arg)
c.*1798T>G (n.*1798T>G)
c.3417T>G (p.Ser1139Arg)
c.*3247T>G (n.*3247T>G)
c.2997T>G (p.Ser999Arg)
c.171T>G (p.Ser57Arg)
c.1014T>G (p.Ser338Arg)
c.5T>G
c.1073T>G
c.2205T>G (p.Ser735Arg)
c.3333T>G (p.Ser1111Arg)
c.248T>G
c.3513T>G (p.Ser1171Arg)
c.3180T>G (p.Ser1060Arg)
 ClinVar dbSNP
7g.117614668T=CA1737392146CFTRc.3423T= (p.Ser1141=)
c.*3137T= (n.*3137T=)
c.3240T= (p.Ser1080=)
c.*1798T= (n.*1798T=)
c.3417T= (p.Ser1139=)
c.*3247T= (n.*3247T=)
c.2997T= (p.Ser999=)
c.171T= (p.Ser57=)
c.1014T= (p.Ser338=)
c.5T=
c.1073T=
c.2205T= (p.Ser735=)
c.3333T= (p.Ser1111=)
c.248T=
c.3513T= (p.Ser1171=)
c.3180T= (p.Ser1060=)
7g.117614672_117614673insATCACATTAAATTTACATCA1737392147CFTRc.3427_3428insATCACATTAAATTTACAT (p.Thr1142_Leu1143insTyrHisIleLysPheThr)
c.*3141_*3142insATCACATTAAATTTACAT (n.*3141_*3142insATCACATTAAATTTACAT)
c.3244_3245insATCACATTAAATTTACAT (p.Thr1081_Leu1082insTyrHisIleLysPheThr)
c.*1802_*1803insATCACATTAAATTTACAT (n.*1802_*1803insATCACATTAAATTTACAT)
c.3421_3422insATCACATTAAATTTACAT (p.Thr1140_Leu1141insTyrHisIleLysPheThr)
c.*3251_*3252insATCACATTAAATTTACAT (n.*3251_*3252insATCACATTAAATTTACAT)
c.3001_3002insATCACATTAAATTTACAT (p.Thr1000_Leu1001insTyrHisIleLysPheThr)
c.175_176insATCACATTAAATTTACAT (p.Thr58_Leu59insTyrHisIleLysPheThr)
c.1018_1019insATCACATTAAATTTACAT (p.Thr339_Leu340insTyrHisIleLysPheThr)
c.9_10insATCACATTAAATTTACAT
c.1077_1078insATCACATTAAATTTACAT
c.2209_2210insATCACATTAAATTTACAT (p.Thr736_Leu737insTyrHisIleLysPheThr)
c.3337_3338insATCACATTAAATTTACAT (p.Thr1112_Leu1113insTyrHisIleLysPheThr)
c.252_253insATCACATTAAATTTACAT
c.3517_3518insATCACATTAAATTTACAT (p.Thr1172_Leu1173insTyrHisIleLysPheThr)
c.3184_3185insATCACATTAAATTTACAT (p.Thr1061_Leu1062insTyrHisIleLysPheThr)
 dbSNP
7g.117614669A>CCA368993540CFTRc.3424A>C (p.Thr1142Pro)
c.*3138A>C (n.*3138A>C)
c.3241A>C (p.Thr1081Pro)
c.*1799A>C (n.*1799A>C)
c.3418A>C (p.Thr1140Pro)
c.*3248A>C (n.*3248A>C)
c.2998A>C (p.Thr1000Pro)
c.172A>C (p.Thr58Pro)
c.1015A>C (p.Thr339Pro)
c.6A>C
c.1074A>C
c.2206A>C (p.Thr736Pro)
c.3334A>C (p.Thr1112Pro)
c.249A>C
c.3514A>C (p.Thr1172Pro)
c.3181A>C (p.Thr1061Pro)
7g.117614669A>GCA368993543CFTRc.3424A>G (p.Thr1142Ala)
c.*3138A>G (n.*3138A>G)
c.3241A>G (p.Thr1081Ala)
c.*1799A>G (n.*1799A>G)
c.3418A>G (p.Thr1140Ala)
c.*3248A>G (n.*3248A>G)
c.2998A>G (p.Thr1000Ala)
c.172A>G (p.Thr58Ala)
c.1015A>G (p.Thr339Ala)
c.6A>G
c.1074A>G
c.2206A>G (p.Thr736Ala)
c.3334A>G (p.Thr1112Ala)
c.249A>G
c.3514A>G (p.Thr1172Ala)
c.3181A>G (p.Thr1061Ala)
7g.117614669A>TCA368993545CFTRc.3424A>T (p.Thr1142Ser)
c.*3138A>T (n.*3138A>T)
c.3241A>T (p.Thr1081Ser)
c.*1799A>T (n.*1799A>T)
c.3418A>T (p.Thr1140Ser)
c.*3248A>T (n.*3248A>T)
c.2998A>T (p.Thr1000Ser)
c.172A>T (p.Thr58Ser)
c.1015A>T (p.Thr339Ser)
c.6A>T
c.1074A>T
c.2206A>T (p.Thr736Ser)
c.3334A>T (p.Thr1112Ser)
c.249A>T
c.3514A>T (p.Thr1172Ser)
c.3181A>T (p.Thr1061Ser)
7g.117614670C>ACA368993548CFTRc.3425C>A (p.Thr1142Lys)
c.*3139C>A (n.*3139C>A)
c.3242C>A (p.Thr1081Lys)
c.*1800C>A (n.*1800C>A)
c.3419C>A (p.Thr1140Lys)
c.*3249C>A (n.*3249C>A)
c.2999C>A (p.Thr1000Lys)
c.173C>A (p.Thr58Lys)
c.1016C>A (p.Thr339Lys)
c.7C>A
c.1075C>A
c.2207C>A (p.Thr736Lys)
c.3335C>A (p.Thr1112Lys)
c.250C>A
c.3515C>A (p.Thr1172Lys)
c.3182C>A (p.Thr1061Lys)
7g.117614670C=CA1737392151CFTRc.3425C= (p.Thr1142=)
c.*3139C= (n.*3139C=)
c.3242C= (p.Thr1081=)
c.*1800C= (n.*1800C=)
c.3419C= (p.Thr1140=)
c.*3249C= (n.*3249C=)
c.2999C= (p.Thr1000=)
c.173C= (p.Thr58=)
c.1016C= (p.Thr339=)
c.7C=
c.1075C=
c.2207C= (p.Thr736=)
c.3335C= (p.Thr1112=)
c.250C=
c.3515C= (p.Thr1172=)
c.3182C= (p.Thr1061=)
7g.117614670C>GCA368993550CFTRc.3425C>G (p.Thr1142Arg)
c.*3139C>G (n.*3139C>G)
c.3242C>G (p.Thr1081Arg)
c.*1800C>G (n.*1800C>G)
c.3419C>G (p.Thr1140Arg)
c.*3249C>G (n.*3249C>G)
c.2999C>G (p.Thr1000Arg)
c.173C>G (p.Thr58Arg)
c.1016C>G (p.Thr339Arg)
c.7C>G
c.1075C>G
c.2207C>G (p.Thr736Arg)
c.3335C>G (p.Thr1112Arg)
c.250C>G
c.3515C>G (p.Thr1172Arg)
c.3182C>G (p.Thr1061Arg)
7g.117614670C>TCA368993552CFTRc.3425C>T (p.Thr1142Ile)
c.*3139C>T (n.*3139C>T)
c.3242C>T (p.Thr1081Ile)
c.*1800C>T (n.*1800C>T)
c.3419C>T (p.Thr1140Ile)
c.*3249C>T (n.*3249C>T)
c.2999C>T (p.Thr1000Ile)
c.173C>T (p.Thr58Ile)
c.1016C>T (p.Thr339Ile)
c.7C>T
c.1075C>T
c.2207C>T (p.Thr736Ile)
c.3335C>T (p.Thr1112Ile)
c.250C>T
c.3515C>T (p.Thr1172Ile)
c.3182C>T (p.Thr1061Ile)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.117614671A=CA1737392155CFTRc.3426A= (p.Thr1142=)
c.*3140A= (n.*3140A=)
c.3243A= (p.Thr1081=)
c.*1801A= (n.*1801A=)
c.3420A= (p.Thr1140=)
c.*3250A= (n.*3250A=)
c.3000A= (p.Thr1000=)
c.174A= (p.Thr58=)
c.1017A= (p.Thr339=)
c.8A=
c.1076A=
c.2208A= (p.Thr736=)
c.3336A= (p.Thr1112=)
c.251A=
c.3516A= (p.Thr1172=)
c.3183A= (p.Thr1061=)
7g.117614671A>CCA457230188CFTRc.3426A>C (p.Thr1142=)
c.*3140A>C (n.*3140A>C)
c.3243A>C (p.Thr1081=)
c.*1801A>C (n.*1801A>C)
c.3420A>C (p.Thr1140=)
c.*3250A>C (n.*3250A>C)
c.3000A>C (p.Thr1000=)
c.174A>C (p.Thr58=)
c.1017A>C (p.Thr339=)
c.8A>C
c.1076A>C
c.2208A>C (p.Thr736=)
c.3336A>C (p.Thr1112=)
c.251A>C
c.3516A>C (p.Thr1172=)
c.3183A>C (p.Thr1061=)
 gnomAD v4
7g.117614671A>GCA457230189CFTRc.3426A>G (p.Thr1142=)
c.*3140A>G (n.*3140A>G)
c.3243A>G (p.Thr1081=)
c.*1801A>G (n.*1801A>G)
c.3420A>G (p.Thr1140=)
c.*3250A>G (n.*3250A>G)
c.3000A>G (p.Thr1000=)
c.174A>G (p.Thr58=)
c.1017A>G (p.Thr339=)
c.8A>G
c.1076A>G
c.2208A>G (p.Thr736=)
c.3336A>G (p.Thr1112=)
c.251A>G
c.3516A>G (p.Thr1172=)
c.3183A>G (p.Thr1061=)
 ClinVar dbSNP
7g.117614671A>TCA457230190CFTRc.3426A>T (p.Thr1142=)
c.*3140A>T (n.*3140A>T)
c.3243A>T (p.Thr1081=)
c.*1801A>T (n.*1801A>T)
c.3420A>T (p.Thr1140=)
c.*3250A>T (n.*3250A>T)
c.3000A>T (p.Thr1000=)
c.174A>T (p.Thr58=)
c.1017A>T (p.Thr339=)
c.8A>T
c.1076A>T
c.2208A>T (p.Thr736=)
c.3336A>T (p.Thr1112=)
c.251A>T
c.3516A>T (p.Thr1172=)
c.3183A>T (p.Thr1061=)
 gnomAD v4
7g.117614672T>ACA368993559CFTRc.3427T>A (p.Leu1143Met)
c.*3141T>A (n.*3141T>A)
c.3244T>A (p.Leu1082Met)
c.*1802T>A (n.*1802T>A)
c.3421T>A (p.Leu1141Met)
c.*3251T>A (n.*3251T>A)
c.3001T>A (p.Leu1001Met)
c.175T>A (p.Leu59Met)
c.1018T>A (p.Leu340Met)
c.9T>A
c.1077T>A
c.2209T>A (p.Leu737Met)
c.3337T>A (p.Leu1113Met)
c.252T>A
c.3517T>A (p.Leu1173Met)
c.3184T>A (p.Leu1062Met)
7g.117614672T>CCA164968844CFTRc.3427T>C (p.Leu1143=)
c.*3141T>C (n.*3141T>C)
c.3244T>C (p.Leu1082=)
c.*1802T>C (n.*1802T>C)
c.3421T>C (p.Leu1141=)
c.*3251T>C (n.*3251T>C)
c.3001T>C (p.Leu1001=)
c.175T>C (p.Leu59=)
c.1018T>C (p.Leu340=)
c.9T>C
c.1077T>C
c.2209T>C (p.Leu737=)
c.3337T>C (p.Leu1113=)
c.252T>C
c.3517T>C (p.Leu1173=)
c.3184T>C (p.Leu1062=)
 ClinVar dbSNP gnomAD v4
7g.117614672T>GCA368993557CFTRc.3427T>G (p.Leu1143Val)
c.*3141T>G (n.*3141T>G)
c.3244T>G (p.Leu1082Val)
c.*1802T>G (n.*1802T>G)
c.3421T>G (p.Leu1141Val)
c.*3251T>G (n.*3251T>G)
c.3001T>G (p.Leu1001Val)
c.175T>G (p.Leu59Val)
c.1018T>G (p.Leu340Val)
c.9T>G
c.1077T>G
c.2209T>G (p.Leu737Val)
c.3337T>G (p.Leu1113Val)
c.252T>G
c.3517T>G (p.Leu1173Val)
c.3184T>G (p.Leu1062Val)
7g.117614672T=CA1737392158CFTRc.3427T= (p.Leu1143=)
c.*3141T= (n.*3141T=)
c.3244T= (p.Leu1082=)
c.*1802T= (n.*1802T=)
c.3421T= (p.Leu1141=)
c.*3251T= (n.*3251T=)
c.3001T= (p.Leu1001=)
c.175T= (p.Leu59=)
c.1018T= (p.Leu340=)
c.9T=
c.1077T=
c.2209T= (p.Leu737=)
c.3337T= (p.Leu1113=)
c.252T=
c.3517T= (p.Leu1173=)
c.3184T= (p.Leu1062=)
7g.117614672_117614673insATCACATTAAATTCA1737392157CFTRc.3427_3428insATCACATTAAATT (p.Leu1143TyrfsTer17)
c.*3141_*3142insATCACATTAAATT (n.*3141_*3142insATCACATTAAATT)
c.3244_3245insATCACATTAAATT (p.Leu1082TyrfsTer17)
c.*1802_*1803insATCACATTAAATT (n.*1802_*1803insATCACATTAAATT)
c.3421_3422insATCACATTAAATT (p.Leu1141TyrfsTer17)
c.*3251_*3252insATCACATTAAATT (n.*3251_*3252insATCACATTAAATT)
c.3001_3002insATCACATTAAATT (p.Leu1001TyrfsTer17)
c.175_176insATCACATTAAATT (p.Leu59TyrfsTer17)
c.1018_1019insATCACATTAAATT (p.Leu340TyrfsTer17)
c.9_10insATCACATTAAATT
c.1077_1078insATCACATTAAATT
c.2209_2210insATCACATTAAATT (p.Leu737TyrfsTer17)
c.3337_3338insATCACATTAAATT (p.Leu1113TyrfsTer17)
c.252_253insATCACATTAAATT
c.3517_3518insATCACATTAAATT (p.Leu1173TyrfsTer17)
c.3184_3185insATCACATTAAATT (p.Leu1062TyrfsTer17)
 dbSNP
7g.117614672_117614673insATCACATTAAATTTACATTTCAATTTTATGCTAACA2556057710CFTRc.3427_3428insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1143TyrfsTer24)
c.*3141_*3142insATCACATTAAATTTACATTTCAATTTTATGCTAA (n.*3141_*3142insATCACATTAAATTTACATTTCAATTTTATGCTAA)
c.3244_3245insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1082TyrfsTer24)
c.*1802_*1803insATCACATTAAATTTACATTTCAATTTTATGCTAA (n.*1802_*1803insATCACATTAAATTTACATTTCAATTTTATGCTAA)
c.3421_3422insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1141TyrfsTer24)
c.*3251_*3252insATCACATTAAATTTACATTTCAATTTTATGCTAA (n.*3251_*3252insATCACATTAAATTTACATTTCAATTTTATGCTAA)
c.3001_3002insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1001TyrfsTer24)
c.175_176insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu59TyrfsTer24)
c.1018_1019insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu340TyrfsTer24)
c.9_10insATCACATTAAATTTACATTTCAATTTTATGCTAA
c.1077_1078insATCACATTAAATTTACATTTCAATTTTATGCTAA
c.2209_2210insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu737TyrfsTer24)
c.3337_3338insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1113TyrfsTer24)
c.252_253insATCACATTAAATTTACATTTCAATTTTATGCTAA
c.3517_3518insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1173TyrfsTer24)
c.3184_3185insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1062TyrfsTer24)
7g.117614673T>ACA368993561CFTRc.3428T>A (p.Leu1143Ter)
c.*3142T>A (n.*3142T>A)
c.3245T>A (p.Leu1082Ter)
c.*1803T>A (n.*1803T>A)
c.3422T>A (p.Leu1141Ter)
c.*3252T>A (n.*3252T>A)
c.3002T>A (p.Leu1001Ter)
c.176T>A (p.Leu59Ter)
c.1019T>A (p.Leu340Ter)
c.10T>A
c.1078T>A
c.2210T>A (p.Leu737Ter)
c.3338T>A (p.Leu1113Ter)
c.253T>A
c.3518T>A (p.Leu1173Ter)
c.3185T>A (p.Leu1062Ter)
 ClinVar
7g.117614673T>CCA368993563CFTRc.3428T>C (p.Leu1143Ser)
c.*3142T>C (n.*3142T>C)
c.3245T>C (p.Leu1082Ser)
c.*1803T>C (n.*1803T>C)
c.3422T>C (p.Leu1141Ser)
c.*3252T>C (n.*3252T>C)
c.3002T>C (p.Leu1001Ser)
c.176T>C (p.Leu59Ser)
c.1019T>C (p.Leu340Ser)
c.10T>C
c.1078T>C
c.2210T>C (p.Leu737Ser)
c.3338T>C (p.Leu1113Ser)
c.253T>C
c.3518T>C (p.Leu1173Ser)
c.3185T>C (p.Leu1062Ser)
 ClinVar dbSNP gnomAD v4
7g.117614673T>GCA368993565CFTRc.3428T>G (p.Leu1143Trp)
c.*3142T>G (n.*3142T>G)
c.3245T>G (p.Leu1082Trp)
c.*1803T>G (n.*1803T>G)
c.3422T>G (p.Leu1141Trp)
c.*3252T>G (n.*3252T>G)
c.3002T>G (p.Leu1001Trp)
c.176T>G (p.Leu59Trp)
c.1019T>G (p.Leu340Trp)
c.10T>G
c.1078T>G
c.2210T>G (p.Leu737Trp)
c.3338T>G (p.Leu1113Trp)
c.253T>G
c.3518T>G (p.Leu1173Trp)
c.3185T>G (p.Leu1062Trp)
7g.117614673T=CA1737392160CFTRc.3428T= (p.Leu1143=)
c.*3142T= (n.*3142T=)
c.3245T= (p.Leu1082=)
c.*1803T= (n.*1803T=)
c.3422T= (p.Leu1141=)
c.*3252T= (n.*3252T=)
c.3002T= (p.Leu1001=)
c.176T= (p.Leu59=)
c.1019T= (p.Leu340=)
c.10T=
c.1078T=
c.2210T= (p.Leu737=)
c.3338T= (p.Leu1113=)
c.253T=
c.3518T= (p.Leu1173=)
c.3185T= (p.Leu1062=)
7g.117614674G>ACA4451459CFTRc.3429G>A (p.Leu1143=)
c.*3143G>A (n.*3143G>A)
c.3246G>A (p.Leu1082=)
c.*1804G>A (n.*1804G>A)
c.3423G>A (p.Leu1141=)
c.*3253G>A (n.*3253G>A)
c.3003G>A (p.Leu1001=)
c.177G>A (p.Leu59=)
c.1020G>A (p.Leu340=)
c.11G>A
c.1079G>A
c.2211G>A (p.Leu737=)
c.3339G>A (p.Leu1113=)
c.254G>A
c.3519G>A (p.Leu1173=)
c.3186G>A (p.Leu1062=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117614674G>CCA368993569CFTRc.3429G>C (p.Leu1143Phe)
c.*3143G>C (n.*3143G>C)
c.3246G>C (p.Leu1082Phe)
c.*1804G>C (n.*1804G>C)
c.3423G>C (p.Leu1141Phe)
c.*3253G>C (n.*3253G>C)
c.3003G>C (p.Leu1001Phe)
c.177G>C (p.Leu59Phe)
c.1020G>C (p.Leu340Phe)
c.11G>C
c.1079G>C
c.2211G>C (p.Leu737Phe)
c.3339G>C (p.Leu1113Phe)
c.254G>C
c.3519G>C (p.Leu1173Phe)
c.3186G>C (p.Leu1062Phe)
7g.117614674G=CA1737392164CFTRc.3429G= (p.Leu1143=)
c.*3143G= (n.*3143G=)
c.3246G= (p.Leu1082=)
c.*1804G= (n.*1804G=)
c.3423G= (p.Leu1141=)
c.*3253G= (n.*3253G=)
c.3003G= (p.Leu1001=)
c.177G= (p.Leu59=)
c.1020G= (p.Leu340=)
c.11G=
c.1079G=
c.2211G= (p.Leu737=)
c.3339G= (p.Leu1113=)
c.254G=
c.3519G= (p.Leu1173=)
c.3186G= (p.Leu1062=)
7g.117614674G>TCA368993571CFTRc.3429G>T (p.Leu1143Phe)
c.*3143G>T (n.*3143G>T)
c.3246G>T (p.Leu1082Phe)
c.*1804G>T (n.*1804G>T)
c.3423G>T (p.Leu1141Phe)
c.*3253G>T (n.*3253G>T)
c.3003G>T (p.Leu1001Phe)
c.177G>T (p.Leu59Phe)
c.1020G>T (p.Leu340Phe)
c.11G>T
c.1079G>T
c.2211G>T (p.Leu737Phe)
c.3339G>T (p.Leu1113Phe)
c.254G>T
c.3519G>T (p.Leu1173Phe)
c.3186G>T (p.Leu1062Phe)
 dbSNP gnomAD v3 gnomAD v4
7g.117614675C>ACA368993573CFTRc.3430C>A (p.Gln1144Lys)
c.*3144C>A (n.*3144C>A)
c.3247C>A (p.Gln1083Lys)
c.*1805C>A (n.*1805C>A)
c.3424C>A (p.Gln1142Lys)
c.*3254C>A (n.*3254C>A)
c.3004C>A (p.Gln1002Lys)
c.178C>A (p.Gln60Lys)
c.1021C>A (p.Gln341Lys)
c.12C>A
c.1080C>A
c.2212C>A (p.Gln738Lys)
c.3340C>A (p.Gln1114Lys)
c.255C>A
c.3520C>A (p.Gln1174Lys)
c.3187C>A (p.Gln1063Lys)
7g.117614675C=CA1737392170CFTRc.3430C= (p.Gln1144=)
c.*3144C= (n.*3144C=)
c.3247C= (p.Gln1083=)
c.*1805C= (n.*1805C=)
c.3424C= (p.Gln1142=)
c.*3254C= (n.*3254C=)
c.3004C= (p.Gln1002=)
c.178C= (p.Gln60=)
c.1021C= (p.Gln341=)
c.12C=
c.1080C=
c.2212C= (p.Gln738=)
c.3340C= (p.Gln1114=)
c.255C=
c.3520C= (p.Gln1174=)
c.3187C= (p.Gln1063=)
7g.117614675C>GCA368993575CFTRc.3430C>G (p.Gln1144Glu)
c.*3144C>G (n.*3144C>G)
c.3247C>G (p.Gln1083Glu)
c.*1805C>G (n.*1805C>G)
c.3424C>G (p.Gln1142Glu)
c.*3254C>G (n.*3254C>G)
c.3004C>G (p.Gln1002Glu)
c.178C>G (p.Gln60Glu)
c.1021C>G (p.Gln341Glu)
c.12C>G
c.1080C>G
c.2212C>G (p.Gln738Glu)
c.3340C>G (p.Gln1114Glu)
c.255C>G
c.3520C>G (p.Gln1174Glu)
c.3187C>G (p.Gln1063Glu)
7g.117614675C>TCA327181CFTRc.3430C>T (p.Gln1144Ter)
c.*3144C>T (n.*3144C>T)
c.3247C>T (p.Gln1083Ter)
c.*1805C>T (n.*1805C>T)
c.3424C>T (p.Gln1142Ter)
c.*3254C>T (n.*3254C>T)
c.3004C>T (p.Gln1002Ter)
c.178C>T (p.Gln60Ter)
c.1021C>T (p.Gln341Ter)
c.12C>T
c.1080C>T
c.2212C>T (p.Gln738Ter)
c.3340C>T (p.Gln1114Ter)
c.255C>T
c.3520C>T (p.Gln1174Ter)
c.3187C>T (p.Gln1063Ter)
 ClinVar dbSNP gnomAD v4
7g.117614676A>CCA368993579CFTRc.3431A>C (p.Gln1144Pro)
c.*3145A>C (n.*3145A>C)
c.3248A>C (p.Gln1083Pro)
c.*1806A>C (n.*1806A>C)
c.3425A>C (p.Gln1142Pro)
c.*3255A>C (n.*3255A>C)
c.3005A>C (p.Gln1002Pro)
c.179A>C (p.Gln60Pro)
c.1022A>C (p.Gln341Pro)
c.13A>C
c.1081A>C
c.2213A>C (p.Gln738Pro)
c.3341A>C (p.Gln1114Pro)
c.256A>C
c.3521A>C (p.Gln1174Pro)
c.3188A>C (p.Gln1063Pro)
7g.117614676A>GCA368993581CFTRc.3431A>G (p.Gln1144Arg)
c.*3145A>G (n.*3145A>G)
c.3248A>G (p.Gln1083Arg)
c.*1806A>G (n.*1806A>G)
c.3425A>G (p.Gln1142Arg)
c.*3255A>G (n.*3255A>G)
c.3005A>G (p.Gln1002Arg)
c.179A>G (p.Gln60Arg)
c.1022A>G (p.Gln341Arg)
c.13A>G
c.1081A>G
c.2213A>G (p.Gln738Arg)
c.3341A>G (p.Gln1114Arg)
c.256A>G
c.3521A>G (p.Gln1174Arg)
c.3188A>G (p.Gln1063Arg)
7g.117614676A>TCA368993583CFTRc.3431A>T (p.Gln1144Leu)
c.*3145A>T (n.*3145A>T)
c.3248A>T (p.Gln1083Leu)
c.*1806A>T (n.*1806A>T)
c.3425A>T (p.Gln1142Leu)
c.*3255A>T (n.*3255A>T)
c.3005A>T (p.Gln1002Leu)
c.179A>T (p.Gln60Leu)
c.1022A>T (p.Gln341Leu)
c.13A>T
c.1081A>T
c.2213A>T (p.Gln738Leu)
c.3341A>T (p.Gln1114Leu)
c.256A>T
c.3521A>T (p.Gln1174Leu)
c.3188A>T (p.Gln1063Leu)
7g.117614677G>ACA457230193CFTRc.3432G>A (p.Gln1144=)
c.*3146G>A (n.*3146G>A)
c.3249G>A (p.Gln1083=)
c.*1807G>A (n.*1807G>A)
c.3426G>A (p.Gln1142=)
c.*3256G>A (n.*3256G>A)
c.3006G>A (p.Gln1002=)
c.180G>A (p.Gln60=)
c.1023G>A (p.Gln341=)
c.14G>A
c.1082G>A
c.2214G>A (p.Gln738=)
c.3342G>A (p.Gln1114=)
c.257G>A
c.3522G>A (p.Gln1174=)
c.3189G>A (p.Gln1063=)
 ClinVar
7g.117614677G>CCA368993585CFTRc.3432G>C (p.Gln1144His)
c.*3146G>C (n.*3146G>C)
c.3249G>C (p.Gln1083His)
c.*1807G>C (n.*1807G>C)
c.3426G>C (p.Gln1142His)
c.*3256G>C (n.*3256G>C)
c.3006G>C (p.Gln1002His)
c.180G>C (p.Gln60His)
c.1023G>C (p.Gln341His)
c.14G>C
c.1082G>C
c.2214G>C (p.Gln738His)
c.3342G>C (p.Gln1114His)
c.257G>C
c.3522G>C (p.Gln1174His)
c.3189G>C (p.Gln1063His)
7g.117614677G=CA1737392176CFTRc.3432G= (p.Gln1144=)
c.*3146G= (n.*3146G=)
c.3249G= (p.Gln1083=)
c.*1807G= (n.*1807G=)
c.3426G= (p.Gln1142=)
c.*3256G= (n.*3256G=)
c.3006G= (p.Gln1002=)
c.180G= (p.Gln60=)
c.1023G= (p.Gln341=)
c.14G=
c.1082G=
c.2214G= (p.Gln738=)
c.3342G= (p.Gln1114=)
c.257G=
c.3522G= (p.Gln1174=)
c.3189G= (p.Gln1063=)
7g.117614677G>TCA368993588CFTRc.3432G>T (p.Gln1144His)
c.*3146G>T (n.*3146G>T)
c.3249G>T (p.Gln1083His)
c.*1807G>T (n.*1807G>T)
c.3426G>T (p.Gln1142His)
c.*3256G>T (n.*3256G>T)
c.3006G>T (p.Gln1002His)
c.180G>T (p.Gln60His)
c.1023G>T (p.Gln341His)
c.14G>T
c.1082G>T
c.2214G>T (p.Gln738His)
c.3342G>T (p.Gln1114His)
c.257G>T
c.3522G>T (p.Gln1174His)
c.3189G>T (p.Gln1063His)
 dbSNP
7g.117614678T>ACA368993590CFTRc.3433T>A (p.Trp1145Arg)
c.*3147T>A (n.*3147T>A)
c.3250T>A (p.Trp1084Arg)
c.*1808T>A (n.*1808T>A)
c.3427T>A (p.Trp1143Arg)
c.*3257T>A (n.*3257T>A)
c.3007T>A (p.Trp1003Arg)
c.181T>A (p.Trp61Arg)
c.1024T>A (p.Trp342Arg)
c.15T>A
c.1083T>A
c.2215T>A (p.Trp739Arg)
c.3343T>A (p.Trp1115Arg)
c.258T>A
c.3523T>A (p.Trp1175Arg)
c.3190T>A (p.Trp1064Arg)
7g.117614678T>CCA368993591CFTRc.3433T>C (p.Trp1145Arg)
c.*3147T>C (n.*3147T>C)
c.3250T>C (p.Trp1084Arg)
c.*1808T>C (n.*1808T>C)
c.3427T>C (p.Trp1143Arg)
c.*3257T>C (n.*3257T>C)
c.3007T>C (p.Trp1003Arg)
c.181T>C (p.Trp61Arg)
c.1024T>C (p.Trp342Arg)
c.15T>C
c.1083T>C
c.2215T>C (p.Trp739Arg)
c.3343T>C (p.Trp1115Arg)
c.258T>C
c.3523T>C (p.Trp1175Arg)
c.3190T>C (p.Trp1064Arg)
 ClinVar dbSNP gnomAD v4
7g.117614678T>GCA368993593CFTRc.3433T>G (p.Trp1145Gly)
c.*3147T>G (n.*3147T>G)
c.3250T>G (p.Trp1084Gly)
c.*1808T>G (n.*1808T>G)
c.3427T>G (p.Trp1143Gly)
c.*3257T>G (n.*3257T>G)
c.3007T>G (p.Trp1003Gly)
c.181T>G (p.Trp61Gly)
c.1024T>G (p.Trp342Gly)
c.15T>G
c.1083T>G
c.2215T>G (p.Trp739Gly)
c.3343T>G (p.Trp1115Gly)
c.258T>G
c.3523T>G (p.Trp1175Gly)
c.3190T>G (p.Trp1064Gly)
7g.117614679G>ACA368993596CFTRc.3434G>A (p.Trp1145Ter)
c.*3148G>A (n.*3148G>A)
c.3251G>A (p.Trp1084Ter)
c.*1809G>A (n.*1809G>A)
c.3428G>A (p.Trp1143Ter)
c.*3258G>A (n.*3258G>A)
c.3008G>A (p.Trp1003Ter)
c.182G>A (p.Trp61Ter)
c.1025G>A (p.Trp342Ter)
c.16G>A
c.1084G>A
c.2216G>A (p.Trp739Ter)
c.3344G>A (p.Trp1115Ter)
c.259G>A
c.3524G>A (p.Trp1175Ter)
c.3191G>A (p.Trp1064Ter)
 ClinVar dbSNP gnomAD v2
7g.117614679G>CCA368993597CFTRc.3434G>C (p.Trp1145Ser)
c.*3148G>C (n.*3148G>C)
c.3251G>C (p.Trp1084Ser)
c.*1809G>C (n.*1809G>C)
c.3428G>C (p.Trp1143Ser)
c.*3258G>C (n.*3258G>C)
c.3008G>C (p.Trp1003Ser)
c.182G>C (p.Trp61Ser)
c.1025G>C (p.Trp342Ser)
c.16G>C
c.1084G>C
c.2216G>C (p.Trp739Ser)
c.3344G>C (p.Trp1115Ser)
c.259G>C
c.3524G>C (p.Trp1175Ser)
c.3191G>C (p.Trp1064Ser)
 ClinVar
7g.117614679G=CA1737392181CFTRc.3434G= (p.Trp1145=)
c.*3148G= (n.*3148G=)
c.3251G= (p.Trp1084=)
c.*1809G= (n.*1809G=)
c.3428G= (p.Trp1143=)
c.*3258G= (n.*3258G=)
c.3008G= (p.Trp1003=)
c.182G= (p.Trp61=)
c.1025G= (p.Trp342=)
c.16G=
c.1084G=
c.2216G= (p.Trp739=)
c.3344G= (p.Trp1115=)
c.259G=
c.3524G= (p.Trp1175=)
c.3191G= (p.Trp1064=)
7g.117614679G>TCA368993600CFTRc.3434G>T (p.Trp1145Leu)
c.*3148G>T (n.*3148G>T)
c.3251G>T (p.Trp1084Leu)
c.*1809G>T (n.*1809G>T)
c.3428G>T (p.Trp1143Leu)
c.*3258G>T (n.*3258G>T)
c.3008G>T (p.Trp1003Leu)
c.182G>T (p.Trp61Leu)
c.1025G>T (p.Trp342Leu)
c.16G>T
c.1084G>T
c.2216G>T (p.Trp739Leu)
c.3344G>T (p.Trp1115Leu)
c.259G>T
c.3524G>T (p.Trp1175Leu)
c.3191G>T (p.Trp1064Leu)
7g.117614680G>ACA327183CFTRc.3435G>A (p.Trp1145Ter)
c.*3149G>A (n.*3149G>A)
c.3252G>A (p.Trp1084Ter)
c.*1810G>A (n.*1810G>A)
c.3429G>A (p.Trp1143Ter)
c.*3259G>A (n.*3259G>A)
c.3009G>A (p.Trp1003Ter)
c.183G>A (p.Trp61Ter)
c.1026G>A (p.Trp342Ter)
c.17G>A
c.1085G>A
c.2217G>A (p.Trp739Ter)
c.3345G>A (p.Trp1115Ter)
c.260G>A
c.3525G>A (p.Trp1175Ter)
c.3192G>A (p.Trp1064Ter)
 ClinVar dbSNP
7g.117614680G>CCA368993603CFTRc.3435G>C (p.Trp1145Cys)
c.*3149G>C (n.*3149G>C)
c.3252G>C (p.Trp1084Cys)
c.*1810G>C (n.*1810G>C)
c.3429G>C (p.Trp1143Cys)
c.*3259G>C (n.*3259G>C)
c.3009G>C (p.Trp1003Cys)
c.183G>C (p.Trp61Cys)
c.1026G>C (p.Trp342Cys)
c.17G>C
c.1085G>C
c.2217G>C (p.Trp739Cys)
c.3345G>C (p.Trp1115Cys)
c.260G>C
c.3525G>C (p.Trp1175Cys)
c.3192G>C (p.Trp1064Cys)
7g.117614680G=CA1737392187CFTRc.3435G= (p.Trp1145=)
c.*3149G= (n.*3149G=)
c.3252G= (p.Trp1084=)
c.*1810G= (n.*1810G=)
c.3429G= (p.Trp1143=)
c.*3259G= (n.*3259G=)
c.3009G= (p.Trp1003=)
c.183G= (p.Trp61=)
c.1026G= (p.Trp342=)
c.17G=
c.1085G=
c.2217G= (p.Trp739=)
c.3345G= (p.Trp1115=)
c.260G=
c.3525G= (p.Trp1175=)
c.3192G= (p.Trp1064=)
7g.117614680G>TCA368993605CFTRc.3435G>T (p.Trp1145Cys)
c.*3149G>T (n.*3149G>T)
c.3252G>T (p.Trp1084Cys)
c.*1810G>T (n.*1810G>T)
c.3429G>T (p.Trp1143Cys)
c.*3259G>T (n.*3259G>T)
c.3009G>T (p.Trp1003Cys)
c.183G>T (p.Trp61Cys)
c.1026G>T (p.Trp342Cys)
c.17G>T
c.1085G>T
c.2217G>T (p.Trp739Cys)
c.3345G>T (p.Trp1115Cys)
c.260G>T
c.3525G>T (p.Trp1175Cys)
c.3192G>T (p.Trp1064Cys)
7g.117614681G>ACA368993608CFTRc.3436G>A (p.Ala1146Thr)
c.*3150G>A (n.*3150G>A)
c.3253G>A (p.Ala1085Thr)
c.*1811G>A (n.*1811G>A)
c.3430G>A (p.Ala1144Thr)
c.*3260G>A (n.*3260G>A)
c.3010G>A (p.Ala1004Thr)
c.184G>A (p.Ala62Thr)
c.1027G>A (p.Ala343Thr)
c.18G>A
c.1086G>A
c.2218G>A (p.Ala740Thr)
c.3346G>A (p.Ala1116Thr)
c.261G>A
c.3526G>A (p.Ala1176Thr)
c.3193G>A (p.Ala1065Thr)
 gnomAD v4
7g.117614681G>CCA368993610CFTRc.3436G>C (p.Ala1146Pro)
c.*3150G>C (n.*3150G>C)
c.3253G>C (p.Ala1085Pro)
c.*1811G>C (n.*1811G>C)
c.3430G>C (p.Ala1144Pro)
c.*3260G>C (n.*3260G>C)
c.3010G>C (p.Ala1004Pro)
c.184G>C (p.Ala62Pro)
c.1027G>C (p.Ala343Pro)
c.18G>C
c.1086G>C
c.2218G>C (p.Ala740Pro)
c.3346G>C (p.Ala1116Pro)
c.261G>C
c.3526G>C (p.Ala1176Pro)
c.3193G>C (p.Ala1065Pro)
7g.117614681G>TCA368993611CFTRc.3436G>T (p.Ala1146Ser)
c.*3150G>T (n.*3150G>T)
c.3253G>T (p.Ala1085Ser)
c.*1811G>T (n.*1811G>T)
c.3430G>T (p.Ala1144Ser)
c.*3260G>T (n.*3260G>T)
c.3010G>T (p.Ala1004Ser)
c.184G>T (p.Ala62Ser)
c.1027G>T (p.Ala343Ser)
c.18G>T
c.1086G>T
c.2218G>T (p.Ala740Ser)
c.3346G>T (p.Ala1116Ser)
c.261G>T
c.3526G>T (p.Ala1176Ser)
c.3193G>T (p.Ala1065Ser)
7g.117614682C>ACA4451460CFTRc.3437C>A (p.Ala1146Asp)
c.*3151C>A (n.*3151C>A)
c.3254C>A (p.Ala1085Asp)
c.*1812C>A (n.*1812C>A)
c.3431C>A (p.Ala1144Asp)
c.*3261C>A (n.*3261C>A)
c.3011C>A (p.Ala1004Asp)
c.185C>A (p.Ala62Asp)
c.1028C>A (p.Ala343Asp)
c.19C>A
c.1087C>A
c.2219C>A (p.Ala740Asp)
c.3347C>A (p.Ala1116Asp)
c.262C>A
c.3527C>A (p.Ala1176Asp)
c.3194C>A (p.Ala1065Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614682C=CA1737392191CFTRc.3437C= (p.Ala1146=)
c.*3151C= (n.*3151C=)
c.3254C= (p.Ala1085=)
c.*1812C= (n.*1812C=)
c.3431C= (p.Ala1144=)
c.*3261C= (n.*3261C=)
c.3011C= (p.Ala1004=)
c.185C= (p.Ala62=)
c.1028C= (p.Ala343=)
c.19C=
c.1087C=
c.2219C= (p.Ala740=)
c.3347C= (p.Ala1116=)
c.262C=
c.3527C= (p.Ala1176=)
c.3194C= (p.Ala1065=)
7g.117614682C>GCA368993615CFTRc.3437C>G (p.Ala1146Gly)
c.*3151C>G (n.*3151C>G)
c.3254C>G (p.Ala1085Gly)
c.*1812C>G (n.*1812C>G)
c.3431C>G (p.Ala1144Gly)
c.*3261C>G (n.*3261C>G)
c.3011C>G (p.Ala1004Gly)
c.185C>G (p.Ala62Gly)
c.1028C>G (p.Ala343Gly)
c.19C>G
c.1087C>G
c.2219C>G (p.Ala740Gly)
c.3347C>G (p.Ala1116Gly)
c.262C>G
c.3527C>G (p.Ala1176Gly)
c.3194C>G (p.Ala1065Gly)
7g.117614682C>TCA368993613CFTRc.3437C>T (p.Ala1146Val)
c.*3151C>T (n.*3151C>T)
c.3254C>T (p.Ala1085Val)
c.*1812C>T (n.*1812C>T)
c.3431C>T (p.Ala1144Val)
c.*3261C>T (n.*3261C>T)
c.3011C>T (p.Ala1004Val)
c.185C>T (p.Ala62Val)
c.1028C>T (p.Ala343Val)
c.19C>T
c.1087C>T
c.2219C>T (p.Ala740Val)
c.3347C>T (p.Ala1116Val)
c.262C>T
c.3527C>T (p.Ala1176Val)
c.3194C>T (p.Ala1065Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117614682_117614683insACATATCACATTAAATTTACATTTCAATTTTACA1737392196CFTRc.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1147HisfsTer12)
c.*3151_*3152insACATATCACATTAAATTTACATTTCAATTTTA (n.*3151_*3152insACATATCACATTAAATTTACATTTCAATTTTA)
c.3254_3255insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1086HisfsTer12)
c.*1812_*1813insACATATCACATTAAATTTACATTTCAATTTTA (n.*1812_*1813insACATATCACATTAAATTTACATTTCAATTTTA)
c.3431_3432insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1145HisfsTer12)
c.*3261_*3262insACATATCACATTAAATTTACATTTCAATTTTA (n.*3261_*3262insACATATCACATTAAATTTACATTTCAATTTTA)
c.3011_3012insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1005HisfsTer12)
c.185_186insACATATCACATTAAATTTACATTTCAATTTTA (p.Val63HisfsTer12)
c.1028_1029insACATATCACATTAAATTTACATTTCAATTTTA (p.Val344HisfsTer12)
c.19_20insACATATCACATTAAATTTACATTTCAATTTTA
c.1087_1088insACATATCACATTAAATTTACATTTCAATTTTA
c.2219_2220insACATATCACATTAAATTTACATTTCAATTTTA (p.Val741HisfsTer12)
c.3347_3348insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1117HisfsTer12)
c.262_263insACATATCACATTAAATTTACATTTCAATTTTA
c.3527_3528insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1177HisfsTer12)
c.3194_3195insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1066HisfsTer12)
 dbSNP
7g.117614683T>ACA457230196CFTRc.3438T>A (p.Ala1146=)
c.*3152T>A (n.*3152T>A)
c.3255T>A (p.Ala1085=)
c.*1813T>A (n.*1813T>A)
c.3432T>A (p.Ala1144=)
c.*3262T>A (n.*3262T>A)
c.3012T>A (p.Ala1004=)
c.186T>A (p.Ala62=)
c.1029T>A (p.Ala343=)
c.20T>A
c.1088T>A
c.2220T>A (p.Ala740=)
c.3348T>A (p.Ala1116=)
c.263T>A
c.3528T>A (p.Ala1176=)
c.3195T>A (p.Ala1065=)
7g.117614683T>CCA457230194CFTRc.3438T>C (p.Ala1146=)
c.*3152T>C (n.*3152T>C)
c.3255T>C (p.Ala1085=)
c.*1813T>C (n.*1813T>C)
c.3432T>C (p.Ala1144=)
c.*3262T>C (n.*3262T>C)
c.3012T>C (p.Ala1004=)
c.186T>C (p.Ala62=)
c.1029T>C (p.Ala343=)
c.20T>C
c.1088T>C
c.2220T>C (p.Ala740=)
c.3348T>C (p.Ala1116=)
c.263T>C
c.3528T>C (p.Ala1176=)
c.3195T>C (p.Ala1065=)
7g.117614683T>GCA457230195CFTRc.3438T>G (p.Ala1146=)
c.*3152T>G (n.*3152T>G)
c.3255T>G (p.Ala1085=)
c.*1813T>G (n.*1813T>G)
c.3432T>G (p.Ala1144=)
c.*3262T>G (n.*3262T>G)
c.3012T>G (p.Ala1004=)
c.186T>G (p.Ala62=)
c.1029T>G (p.Ala343=)
c.20T>G
c.1088T>G
c.2220T>G (p.Ala740=)
c.3348T>G (p.Ala1116=)
c.263T>G
c.3528T>G (p.Ala1176=)
c.3195T>G (p.Ala1065=)
7g.117614684G>ACA327185CFTRc.3439G>A (p.Val1147Ile)
c.*3153G>A (n.*3153G>A)
c.3256G>A (p.Val1086Ile)
c.*1814G>A (n.*1814G>A)
c.3433G>A (p.Val1145Ile)
c.*3263G>A (n.*3263G>A)
c.3013G>A (p.Val1005Ile)
c.187G>A (p.Val63Ile)
c.1030G>A (p.Val344Ile)
c.21G>A
c.1089G>A
c.2221G>A (p.Val741Ile)
c.3349G>A (p.Val1117Ile)
c.264G>A
c.3529G>A (p.Val1177Ile)
c.3196G>A (p.Val1066Ile)
 ClinVar dbSNP
7g.117614684G>CCA368993621CFTRc.3439G>C (p.Val1147Leu)
c.*3153G>C (n.*3153G>C)
c.3256G>C (p.Val1086Leu)
c.*1814G>C (n.*1814G>C)
c.3433G>C (p.Val1145Leu)
c.*3263G>C (n.*3263G>C)
c.3013G>C (p.Val1005Leu)
c.187G>C (p.Val63Leu)
c.1030G>C (p.Val344Leu)
c.21G>C
c.1089G>C
c.2221G>C (p.Val741Leu)
c.3349G>C (p.Val1117Leu)
c.264G>C
c.3529G>C (p.Val1177Leu)
c.3196G>C (p.Val1066Leu)
7g.117614684G=CA1737392204CFTRc.3439G= (p.Val1147=)
c.*3153G= (n.*3153G=)
c.3256G= (p.Val1086=)
c.*1814G= (n.*1814G=)
c.3433G= (p.Val1145=)
c.*3263G= (n.*3263G=)
c.3013G= (p.Val1005=)
c.187G= (p.Val63=)
c.1030G= (p.Val344=)
c.21G=
c.1089G=
c.2221G= (p.Val741=)
c.3349G= (p.Val1117=)
c.264G=
c.3529G= (p.Val1177=)
c.3196G= (p.Val1066=)
7g.117614684G>TCA368993622CFTRc.3439G>T (p.Val1147Leu)
c.*3153G>T (n.*3153G>T)
c.3256G>T (p.Val1086Leu)
c.*1814G>T (n.*1814G>T)
c.3433G>T (p.Val1145Leu)
c.*3263G>T (n.*3263G>T)
c.3013G>T (p.Val1005Leu)
c.187G>T (p.Val63Leu)
c.1030G>T (p.Val344Leu)
c.21G>T
c.1089G>T
c.2221G>T (p.Val741Leu)
c.3349G>T (p.Val1117Leu)
c.264G>T
c.3529G>T (p.Val1177Leu)
c.3196G>T (p.Val1066Leu)
7g.117614685T>ACA368993625CFTRc.3440T>A (p.Val1147Glu)
c.*3154T>A (n.*3154T>A)
c.3257T>A (p.Val1086Glu)
c.*1815T>A (n.*1815T>A)
c.3434T>A (p.Val1145Glu)
c.*3264T>A (n.*3264T>A)
c.3014T>A (p.Val1005Glu)
c.188T>A (p.Val63Glu)
c.1031T>A (p.Val344Glu)
c.22T>A
c.1090T>A
c.2222T>A (p.Val741Glu)
c.3350T>A (p.Val1117Glu)
c.265T>A
c.3530T>A (p.Val1177Glu)
c.3197T>A (p.Val1066Glu)
 dbSNP gnomAD v2 gnomAD v4
7g.117614685T>CCA368993627CFTRc.3440T>C (p.Val1147Ala)
c.*3154T>C (n.*3154T>C)
c.3257T>C (p.Val1086Ala)
c.*1815T>C (n.*1815T>C)
c.3434T>C (p.Val1145Ala)
c.*3264T>C (n.*3264T>C)
c.3014T>C (p.Val1005Ala)
c.188T>C (p.Val63Ala)
c.1031T>C (p.Val344Ala)
c.22T>C
c.1090T>C
c.2222T>C (p.Val741Ala)
c.3350T>C (p.Val1117Ala)
c.265T>C
c.3530T>C (p.Val1177Ala)
c.3197T>C (p.Val1066Ala)
 gnomAD v4
7g.117614685T>GCA368993628CFTRc.3440T>G (p.Val1147Gly)
c.*3154T>G (n.*3154T>G)
c.3257T>G (p.Val1086Gly)
c.*1815T>G (n.*1815T>G)
c.3434T>G (p.Val1145Gly)
c.*3264T>G (n.*3264T>G)
c.3014T>G (p.Val1005Gly)
c.188T>G (p.Val63Gly)
c.1031T>G (p.Val344Gly)
c.22T>G
c.1090T>G
c.2222T>G (p.Val741Gly)
c.3350T>G (p.Val1117Gly)
c.265T>G
c.3530T>G (p.Val1177Gly)
c.3197T>G (p.Val1066Gly)
7g.117614685T=CA1737392211CFTRc.3440T= (p.Val1147=)
c.*3154T= (n.*3154T=)
c.3257T= (p.Val1086=)
c.*1815T= (n.*1815T=)
c.3434T= (p.Val1145=)
c.*3264T= (n.*3264T=)
c.3014T= (p.Val1005=)
c.188T= (p.Val63=)
c.1031T= (p.Val344=)
c.22T=
c.1090T=
c.2222T= (p.Val741=)
c.3350T= (p.Val1117=)
c.265T=
c.3530T= (p.Val1177=)
c.3197T= (p.Val1066=)
7g.117614686A=CA1737392215CFTRc.3441A= (p.Val1147=)
c.*3155A= (n.*3155A=)
c.3258A= (p.Val1086=)
c.*1816A= (n.*1816A=)
c.3435A= (p.Val1145=)
c.*3265A= (n.*3265A=)
c.3015A= (p.Val1005=)
c.189A= (p.Val63=)
c.1032A= (p.Val344=)
c.23A=
c.1091A=
c.2223A= (p.Val741=)
c.3351A= (p.Val1117=)
c.266A=
c.3531A= (p.Val1177=)
c.3198A= (p.Val1066=)
7g.117614686A>CCA457230197CFTRc.3441A>C (p.Val1147=)
c.*3155A>C (n.*3155A>C)
c.3258A>C (p.Val1086=)
c.*1816A>C (n.*1816A>C)
c.3435A>C (p.Val1145=)
c.*3265A>C (n.*3265A>C)
c.3015A>C (p.Val1005=)
c.189A>C (p.Val63=)
c.1032A>C (p.Val344=)
c.23A>C
c.1091A>C
c.2223A>C (p.Val741=)
c.3351A>C (p.Val1117=)
c.266A>C
c.3531A>C (p.Val1177=)
c.3198A>C (p.Val1066=)
7g.117614686A>GCA164968901CFTRc.3441A>G (p.Val1147=)
c.*3155A>G (n.*3155A>G)
c.3258A>G (p.Val1086=)
c.*1816A>G (n.*1816A>G)
c.3435A>G (p.Val1145=)
c.*3265A>G (n.*3265A>G)
c.3015A>G (p.Val1005=)
c.189A>G (p.Val63=)
c.1032A>G (p.Val344=)
c.23A>G
c.1091A>G
c.2223A>G (p.Val741=)
c.3351A>G (p.Val1117=)
c.266A>G
c.3531A>G (p.Val1177=)
c.3198A>G (p.Val1066=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117614686A>TCA457230198CFTRc.3441A>T (p.Val1147=)
c.*3155A>T (n.*3155A>T)
c.3258A>T (p.Val1086=)
c.*1816A>T (n.*1816A>T)
c.3435A>T (p.Val1145=)
c.*3265A>T (n.*3265A>T)
c.3015A>T (p.Val1005=)
c.189A>T (p.Val63=)
c.1032A>T (p.Val344=)
c.23A>T
c.1091A>T
c.2223A>T (p.Val741=)
c.3351A>T (p.Val1117=)
c.266A>T
c.3531A>T (p.Val1177=)
c.3198A>T (p.Val1066=)
7g.117614687A>CCA368993631CFTRc.3442A>C (p.Asn1148His)
c.*3156A>C (n.*3156A>C)
c.3259A>C (p.Asn1087His)
c.*1817A>C (n.*1817A>C)
c.3436A>C (p.Asn1146His)
c.*3266A>C (n.*3266A>C)
c.3016A>C (p.Asn1006His)
c.190A>C (p.Asn64His)
c.1033A>C (p.Asn345His)
c.24A>C
c.1092A>C
c.2224A>C (p.Asn742His)
c.3352A>C (p.Asn1118His)
c.267A>C
c.3532A>C (p.Asn1178His)
c.3199A>C (p.Asn1067His)
7g.117614687A>GCA368993634CFTRc.3442A>G (p.Asn1148Asp)
c.*3156A>G (n.*3156A>G)
c.3259A>G (p.Asn1087Asp)
c.*1817A>G (n.*1817A>G)
c.3436A>G (p.Asn1146Asp)
c.*3266A>G (n.*3266A>G)
c.3016A>G (p.Asn1006Asp)
c.190A>G (p.Asn64Asp)
c.1033A>G (p.Asn345Asp)
c.24A>G
c.1092A>G
c.2224A>G (p.Asn742Asp)
c.3352A>G (p.Asn1118Asp)
c.267A>G
c.3532A>G (p.Asn1178Asp)
c.3199A>G (p.Asn1067Asp)
7g.117614687A>TCA368993636CFTRc.3442A>T (p.Asn1148Tyr)
c.*3156A>T (n.*3156A>T)
c.3259A>T (p.Asn1087Tyr)
c.*1817A>T (n.*1817A>T)
c.3436A>T (p.Asn1146Tyr)
c.*3266A>T (n.*3266A>T)
c.3016A>T (p.Asn1006Tyr)
c.190A>T (p.Asn64Tyr)
c.1033A>T (p.Asn345Tyr)
c.24A>T
c.1092A>T
c.2224A>T (p.Asn742Tyr)
c.3352A>T (p.Asn1118Tyr)
c.267A>T
c.3532A>T (p.Asn1178Tyr)
c.3199A>T (p.Asn1067Tyr)
7g.117614688A=CA1737392222CFTRc.3443A= (p.Asn1148=)
c.*3157A= (n.*3157A=)
c.3260A= (p.Asn1087=)
c.*1818A= (n.*1818A=)
c.3437A= (p.Asn1146=)
c.*3267A= (n.*3267A=)
c.3017A= (p.Asn1006=)
c.191A= (p.Asn64=)
c.1034A= (p.Asn345=)
c.25A=
c.1093A=
c.2225A= (p.Asn742=)
c.3353A= (p.Asn1118=)
c.268A=
c.3533A= (p.Asn1178=)
c.3200A= (p.Asn1067=)
7g.117614688A>CCA368993638CFTRc.3443A>C (p.Asn1148Thr)
c.*3157A>C (n.*3157A>C)
c.3260A>C (p.Asn1087Thr)
c.*1818A>C (n.*1818A>C)
c.3437A>C (p.Asn1146Thr)
c.*3267A>C (n.*3267A>C)
c.3017A>C (p.Asn1006Thr)
c.191A>C (p.Asn64Thr)
c.1034A>C (p.Asn345Thr)
c.25A>C
c.1093A>C
c.2225A>C (p.Asn742Thr)
c.3353A>C (p.Asn1118Thr)
c.268A>C
c.3533A>C (p.Asn1178Thr)
c.3200A>C (p.Asn1067Thr)
7g.117614688A>GCA327189CFTRc.3443A>G (p.Asn1148Ser)
c.*3157A>G (n.*3157A>G)
c.3260A>G (p.Asn1087Ser)
c.*1818A>G (n.*1818A>G)
c.3437A>G (p.Asn1146Ser)
c.*3267A>G (n.*3267A>G)
c.3017A>G (p.Asn1006Ser)
c.191A>G (p.Asn64Ser)
c.1034A>G (p.Asn345Ser)
c.25A>G
c.1093A>G
c.2225A>G (p.Asn742Ser)
c.3353A>G (p.Asn1118Ser)
c.268A>G
c.3533A>G (p.Asn1178Ser)
c.3200A>G (p.Asn1067Ser)
 dbSNP
7g.117614688A>TCA368993641CFTRc.3443A>T (p.Asn1148Ile)
c.*3157A>T (n.*3157A>T)
c.3260A>T (p.Asn1087Ile)
c.*1818A>T (n.*1818A>T)
c.3437A>T (p.Asn1146Ile)
c.*3267A>T (n.*3267A>T)
c.3017A>T (p.Asn1006Ile)
c.191A>T (p.Asn64Ile)
c.1034A>T (p.Asn345Ile)
c.25A>T
c.1093A>T
c.2225A>T (p.Asn742Ile)
c.3353A>T (p.Asn1118Ile)
c.268A>T
c.3533A>T (p.Asn1178Ile)
c.3200A>T (p.Asn1067Ile)
7g.117614689delCA2695199621CFTRc.3444del (p.Ser1149ProfsTer3)
c.*3158del (n.*3158del)
c.3261del (p.Ser1088ProfsTer3)
c.*1819del (n.*1819del)
c.3438del (p.Ser1147ProfsTer3)
c.*3268del (n.*3268del)
c.3018del (p.Ser1007ProfsTer3)
c.192del (p.Ser65ProfsTer3)
c.1035del (p.Ser346ProfsTer3)
c.26del
c.1094del
c.2226del (p.Ser743ProfsTer3)
c.3354del (p.Ser1119ProfsTer3)
c.269del
c.3534del (p.Ser1179ProfsTer3)
c.3201del (p.Ser1068ProfsTer3)
 ClinVar
7g.117614689C>ACA327191CFTRc.3444C>A (p.Asn1148Lys)
c.*3158C>A (n.*3158C>A)
c.3261C>A (p.Asn1087Lys)
c.*1819C>A (n.*1819C>A)
c.3438C>A (p.Asn1146Lys)
c.*3268C>A (n.*3268C>A)
c.3018C>A (p.Asn1006Lys)
c.192C>A (p.Asn64Lys)
c.1035C>A (p.Asn345Lys)
c.26C>A
c.1094C>A
c.2226C>A (p.Asn742Lys)
c.3354C>A (p.Asn1118Lys)
c.269C>A
c.3534C>A (p.Asn1178Lys)
c.3201C>A (p.Asn1067Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117614689C=CA1737392226CFTRc.3444C= (p.Asn1148=)
c.*3158C= (n.*3158C=)
c.3261C= (p.Asn1087=)
c.*1819C= (n.*1819C=)
c.3438C= (p.Asn1146=)
c.*3268C= (n.*3268C=)
c.3018C= (p.Asn1006=)
c.192C= (p.Asn64=)
c.1035C= (p.Asn345=)
c.26C=
c.1094C=
c.2226C= (p.Asn742=)
c.3354C= (p.Asn1118=)
c.269C=
c.3534C= (p.Asn1178=)
c.3201C= (p.Asn1067=)
7g.117614689C>GCA368993643CFTRc.3444C>G (p.Asn1148Lys)
c.*3158C>G (n.*3158C>G)
c.3261C>G (p.Asn1087Lys)
c.*1819C>G (n.*1819C>G)
c.3438C>G (p.Asn1146Lys)
c.*3268C>G (n.*3268C>G)
c.3018C>G (p.Asn1006Lys)
c.192C>G (p.Asn64Lys)
c.1035C>G (p.Asn345Lys)
c.26C>G
c.1094C>G
c.2226C>G (p.Asn742Lys)
c.3354C>G (p.Asn1118Lys)
c.269C>G
c.3534C>G (p.Asn1178Lys)
c.3201C>G (p.Asn1067Lys)
7g.117614689C>TCA457230199CFTRc.3444C>T (p.Asn1148=)
c.*3158C>T (n.*3158C>T)
c.3261C>T (p.Asn1087=)
c.*1819C>T (n.*1819C>T)
c.3438C>T (p.Asn1146=)
c.*3268C>T (n.*3268C>T)
c.3018C>T (p.Asn1006=)
c.192C>T (p.Asn64=)
c.1035C>T (p.Asn345=)
c.26C>T
c.1094C>T
c.2226C>T (p.Asn742=)
c.3354C>T (p.Asn1118=)
c.269C>T
c.3534C>T (p.Asn1178=)
c.3201C>T (p.Asn1067=)
7g.117614689_117614690delinsCTCA1737392228CFTRc.3444_3445delinsCT (p.Asn1148=)
c.*3158_*3159delinsCT (n.*3158_*3159delinsCT)
c.3261_3262delinsCT (p.Asn1087=)
c.*1819_*1820delinsCT (n.*1819_*1820delinsCT)
c.3438_3439delinsCT (p.Asn1146=)
c.*3268_*3269delinsCT (n.*3268_*3269delinsCT)
c.3018_3019delinsCT (p.Asn1006=)
c.192_193delinsCT (p.Asn64=)
c.1035_1036delinsCT (p.Asn345=)
c.26_27delinsCT
c.1094_1095delinsCT
c.2226_2227delinsCT (p.Asn742=)
c.3354_3355delinsCT (p.Asn1118=)
c.269_270delinsCT
c.3534_3535delinsCT (p.Asn1178=)
c.3201_3202delinsCT (p.Asn1067=)
7g.117614690delCA327193CFTRc.3445del (p.Ser1149ProfsTer3)
c.*3159del (n.*3159del)
c.3262del (p.Ser1088ProfsTer3)
c.*1820del (n.*1820del)
c.3439del (p.Ser1147ProfsTer3)
c.*3269del (n.*3269del)
c.3019del (p.Ser1007ProfsTer3)
c.193del (p.Ser65ProfsTer3)
c.1036del (p.Ser346ProfsTer3)
c.27del
c.1095del
c.2227del (p.Ser743ProfsTer3)
c.3355del (p.Ser1119ProfsTer3)
c.270del
c.3535del (p.Ser1179ProfsTer3)
c.3202del (p.Ser1068ProfsTer3)
 dbSNP
7g.117614690T>ACA368993647CFTRc.3445T>A (p.Ser1149Thr)
c.*3159T>A (n.*3159T>A)
c.3262T>A (p.Ser1088Thr)
c.*1820T>A (n.*1820T>A)
c.3439T>A (p.Ser1147Thr)
c.*3269T>A (n.*3269T>A)
c.3019T>A (p.Ser1007Thr)
c.193T>A (p.Ser65Thr)
c.1036T>A (p.Ser346Thr)
c.27T>A
c.1095T>A
c.2227T>A (p.Ser743Thr)
c.3355T>A (p.Ser1119Thr)
c.270T>A
c.3535T>A (p.Ser1179Thr)
c.3202T>A (p.Ser1068Thr)
7g.117614690T>CCA4451461CFTRc.3445T>C (p.Ser1149Pro)
c.*3159T>C (n.*3159T>C)
c.3262T>C (p.Ser1088Pro)
c.*1820T>C (n.*1820T>C)
c.3439T>C (p.Ser1147Pro)
c.*3269T>C (n.*3269T>C)
c.3019T>C (p.Ser1007Pro)
c.193T>C (p.Ser65Pro)
c.1036T>C (p.Ser346Pro)
c.27T>C
c.1095T>C
c.2227T>C (p.Ser743Pro)
c.3355T>C (p.Ser1119Pro)
c.270T>C
c.3535T>C (p.Ser1179Pro)
c.3202T>C (p.Ser1068Pro)
 dbSNP ExAC gnomAD v2
7g.117614690T>GCA368993650CFTRc.3445T>G (p.Ser1149Ala)
c.*3159T>G (n.*3159T>G)
c.3262T>G (p.Ser1088Ala)
c.*1820T>G (n.*1820T>G)
c.3439T>G (p.Ser1147Ala)
c.*3269T>G (n.*3269T>G)
c.3019T>G (p.Ser1007Ala)
c.193T>G (p.Ser65Ala)
c.1036T>G (p.Ser346Ala)
c.27T>G
c.1095T>G
c.2227T>G (p.Ser743Ala)
c.3355T>G (p.Ser1119Ala)
c.270T>G
c.3535T>G (p.Ser1179Ala)
c.3202T>G (p.Ser1068Ala)
7g.117614690T=CA1737392234CFTRc.3445T= (p.Ser1149=)
c.*3159T= (n.*3159T=)
c.3262T= (p.Ser1088=)
c.*1820T= (n.*1820T=)
c.3439T= (p.Ser1147=)
c.*3269T= (n.*3269T=)
c.3019T= (p.Ser1007=)
c.193T= (p.Ser65=)
c.1036T= (p.Ser346=)
c.27T=
c.1095T=
c.2227T= (p.Ser743=)
c.3355T= (p.Ser1119=)
c.270T=
c.3535T= (p.Ser1179=)
c.3202T= (p.Ser1068=)
7g.117614691C>ACA368993654CFTRc.3446C>A (p.Ser1149Tyr)
c.*3160C>A (n.*3160C>A)
c.3263C>A (p.Ser1088Tyr)
c.*1821C>A (n.*1821C>A)
c.3440C>A (p.Ser1147Tyr)
c.*3270C>A (n.*3270C>A)
c.3020C>A (p.Ser1007Tyr)
c.194C>A (p.Ser65Tyr)
c.1037C>A (p.Ser346Tyr)
c.28C>A
c.1096C>A
c.2228C>A (p.Ser743Tyr)
c.3356C>A (p.Ser1119Tyr)
c.271C>A
c.3536C>A (p.Ser1179Tyr)
c.3203C>A (p.Ser1068Tyr)
7g.117614691C=CA1737392237CFTRc.3446C= (p.Ser1149=)
c.*3160C= (n.*3160C=)
c.3263C= (p.Ser1088=)
c.*1821C= (n.*1821C=)
c.3440C= (p.Ser1147=)
c.*3270C= (n.*3270C=)
c.3020C= (p.Ser1007=)
c.194C= (p.Ser65=)
c.1037C= (p.Ser346=)
c.28C=
c.1096C=
c.2228C= (p.Ser743=)
c.3356C= (p.Ser1119=)
c.271C=
c.3536C= (p.Ser1179=)
c.3203C= (p.Ser1068=)
7g.117614691C>GCA368993655CFTRc.3446C>G (p.Ser1149Cys)
c.*3160C>G (n.*3160C>G)
c.3263C>G (p.Ser1088Cys)
c.*1821C>G (n.*1821C>G)
c.3440C>G (p.Ser1147Cys)
c.*3270C>G (n.*3270C>G)
c.3020C>G (p.Ser1007Cys)
c.194C>G (p.Ser65Cys)
c.1037C>G (p.Ser346Cys)
c.28C>G
c.1096C>G
c.2228C>G (p.Ser743Cys)
c.3356C>G (p.Ser1119Cys)
c.271C>G
c.3536C>G (p.Ser1179Cys)
c.3203C>G (p.Ser1068Cys)
 dbSNP
7g.117614691C>TCA368993657CFTRc.3446C>T (p.Ser1149Phe)
c.*3160C>T (n.*3160C>T)
c.3263C>T (p.Ser1088Phe)
c.*1821C>T (n.*1821C>T)
c.3440C>T (p.Ser1147Phe)
c.*3270C>T (n.*3270C>T)
c.3020C>T (p.Ser1007Phe)
c.194C>T (p.Ser65Phe)
c.1037C>T (p.Ser346Phe)
c.28C>T
c.1096C>T
c.2228C>T (p.Ser743Phe)
c.3356C>T (p.Ser1119Phe)
c.271C>T
c.3536C>T (p.Ser1179Phe)
c.3203C>T (p.Ser1068Phe)
7g.117614692C>ACA457230201CFTRc.3447C>A (p.Ser1149=)
c.*3161C>A (n.*3161C>A)
c.3264C>A (p.Ser1088=)
c.*1822C>A (n.*1822C>A)
c.3441C>A (p.Ser1147=)
c.*3271C>A (n.*3271C>A)
c.3021C>A (p.Ser1007=)
c.195C>A (p.Ser65=)
c.1038C>A (p.Ser346=)
c.29C>A
c.1097C>A
c.2229C>A (p.Ser743=)
c.3357C>A (p.Ser1119=)
c.272C>A
c.3537C>A (p.Ser1179=)
c.3204C>A (p.Ser1068=)
 ClinVar COSMIC
7g.117614692C>GCA457230202CFTRc.3447C>G (p.Ser1149=)
c.*3161C>G (n.*3161C>G)
c.3264C>G (p.Ser1088=)
c.*1822C>G (n.*1822C>G)
c.3441C>G (p.Ser1147=)
c.*3271C>G (n.*3271C>G)
c.3021C>G (p.Ser1007=)
c.195C>G (p.Ser65=)
c.1038C>G (p.Ser346=)
c.29C>G
c.1097C>G
c.2229C>G (p.Ser743=)
c.3357C>G (p.Ser1119=)
c.272C>G
c.3537C>G (p.Ser1179=)
c.3204C>G (p.Ser1068=)
7g.117614692C>TCA457230203CFTRc.3447C>T (p.Ser1149=)
c.*3161C>T (n.*3161C>T)
c.3264C>T (p.Ser1088=)
c.*1822C>T (n.*1822C>T)
c.3441C>T (p.Ser1147=)
c.*3271C>T (n.*3271C>T)
c.3021C>T (p.Ser1007=)
c.195C>T (p.Ser65=)
c.1038C>T (p.Ser346=)
c.29C>T
c.1097C>T
c.2229C>T (p.Ser743=)
c.3357C>T (p.Ser1119=)
c.272C>T
c.3537C>T (p.Ser1179=)
c.3204C>T (p.Ser1068=)
7g.117614693A>CCA368993664CFTRc.3448A>C (p.Ser1150Arg)
c.*3162A>C (n.*3162A>C)
c.3265A>C (p.Ser1089Arg)
c.*1823A>C (n.*1823A>C)
c.3442A>C (p.Ser1148Arg)
c.*3272A>C (n.*3272A>C)
c.3022A>C (p.Ser1008Arg)
c.196A>C (p.Ser66Arg)
c.1039A>C (p.Ser347Arg)
c.30A>C
c.1098A>C
c.2230A>C (p.Ser744Arg)
c.3358A>C (p.Ser1120Arg)
c.273A>C
c.3538A>C (p.Ser1180Arg)
c.3205A>C (p.Ser1069Arg)
7g.117614693A>GCA368993660CFTRc.3448A>G (p.Ser1150Gly)
c.*3162A>G (n.*3162A>G)
c.3265A>G (p.Ser1089Gly)
c.*1823A>G (n.*1823A>G)
c.3442A>G (p.Ser1148Gly)
c.*3272A>G (n.*3272A>G)
c.3022A>G (p.Ser1008Gly)
c.196A>G (p.Ser66Gly)
c.1039A>G (p.Ser347Gly)
c.30A>G
c.1098A>G
c.2230A>G (p.Ser744Gly)
c.3358A>G (p.Ser1120Gly)
c.273A>G
c.3538A>G (p.Ser1180Gly)
c.3205A>G (p.Ser1069Gly)
7g.117614693A>TCA368993662CFTRc.3448A>T (p.Ser1150Cys)
c.*3162A>T (n.*3162A>T)
c.3265A>T (p.Ser1089Cys)
c.*1823A>T (n.*1823A>T)
c.3442A>T (p.Ser1148Cys)
c.*3272A>T (n.*3272A>T)
c.3022A>T (p.Ser1008Cys)
c.196A>T (p.Ser66Cys)
c.1039A>T (p.Ser347Cys)
c.30A>T
c.1098A>T
c.2230A>T (p.Ser744Cys)
c.3358A>T (p.Ser1120Cys)
c.273A>T
c.3538A>T (p.Ser1180Cys)
c.3205A>T (p.Ser1069Cys)
7g.117614694G>ACA368993667CFTRc.3449G>A (p.Ser1150Asn)
c.*3163G>A (n.*3163G>A)
c.3266G>A (p.Ser1089Asn)
c.*1824G>A (n.*1824G>A)
c.3443G>A (p.Ser1148Asn)
c.*3273G>A (n.*3273G>A)
c.3023G>A (p.Ser1008Asn)
c.197G>A (p.Ser66Asn)
c.1040G>A (p.Ser347Asn)
c.31G>A
c.1099G>A
c.2231G>A (p.Ser744Asn)
c.3359G>A (p.Ser1120Asn)
c.274G>A
c.3539G>A (p.Ser1180Asn)
c.3206G>A (p.Ser1069Asn)
 gnomAD v4
7g.117614694G>CCA368993669CFTRc.3449G>C (p.Ser1150Thr)
c.*3163G>C (n.*3163G>C)
c.3266G>C (p.Ser1089Thr)
c.*1824G>C (n.*1824G>C)
c.3443G>C (p.Ser1148Thr)
c.*3273G>C (n.*3273G>C)
c.3023G>C (p.Ser1008Thr)
c.197G>C (p.Ser66Thr)
c.1040G>C (p.Ser347Thr)
c.31G>C
c.1099G>C
c.2231G>C (p.Ser744Thr)
c.3359G>C (p.Ser1120Thr)
c.274G>C
c.3539G>C (p.Ser1180Thr)
c.3206G>C (p.Ser1069Thr)
 ClinVar dbSNP gnomAD v4
7g.117614694G=CA1737392240CFTRc.3449G= (p.Ser1150=)
c.*3163G= (n.*3163G=)
c.3266G= (p.Ser1089=)
c.*1824G= (n.*1824G=)
c.3443G= (p.Ser1148=)
c.*3273G= (n.*3273G=)
c.3023G= (p.Ser1008=)
c.197G= (p.Ser66=)
c.1040G= (p.Ser347=)
c.31G=
c.1099G=
c.2231G= (p.Ser744=)
c.3359G= (p.Ser1120=)
c.274G=
c.3539G= (p.Ser1180=)
c.3206G= (p.Ser1069=)
7g.117614694G>TCA368993671CFTRc.3449G>T (p.Ser1150Ile)
c.*3163G>T (n.*3163G>T)
c.3266G>T (p.Ser1089Ile)
c.*1824G>T (n.*1824G>T)
c.3443G>T (p.Ser1148Ile)
c.*3273G>T (n.*3273G>T)
c.3023G>T (p.Ser1008Ile)
c.197G>T (p.Ser66Ile)
c.1040G>T (p.Ser347Ile)
c.31G>T
c.1099G>T
c.2231G>T (p.Ser744Ile)
c.3359G>T (p.Ser1120Ile)
c.274G>T
c.3539G>T (p.Ser1180Ile)
c.3206G>T (p.Ser1069Ile)
7g.117614695C>ACA368993673CFTRc.3450C>A (p.Ser1150Arg)
c.*3164C>A (n.*3164C>A)
c.3267C>A (p.Ser1089Arg)
c.*1825C>A (n.*1825C>A)
c.3444C>A (p.Ser1148Arg)
c.*3274C>A (n.*3274C>A)
c.3024C>A (p.Ser1008Arg)
c.198C>A (p.Ser66Arg)
c.1041C>A (p.Ser347Arg)
c.32C>A
c.1100C>A
c.2232C>A (p.Ser744Arg)
c.3360C>A (p.Ser1120Arg)
c.275C>A
c.3540C>A (p.Ser1180Arg)
c.3207C>A (p.Ser1069Arg)
 dbSNP gnomAD v4
7g.117614695C=CA1737392243CFTRc.3450C= (p.Ser1150=)
c.*3164C= (n.*3164C=)
c.3267C= (p.Ser1089=)
c.*1825C= (n.*1825C=)
c.3444C= (p.Ser1148=)
c.*3274C= (n.*3274C=)
c.3024C= (p.Ser1008=)
c.198C= (p.Ser66=)
c.1041C= (p.Ser347=)
c.32C=
c.1100C=
c.2232C= (p.Ser744=)
c.3360C= (p.Ser1120=)
c.275C=
c.3540C= (p.Ser1180=)
c.3207C= (p.Ser1069=)
7g.117614695C>GCA368993675CFTRc.3450C>G (p.Ser1150Arg)
c.*3164C>G (n.*3164C>G)
c.3267C>G (p.Ser1089Arg)
c.*1825C>G (n.*1825C>G)
c.3444C>G (p.Ser1148Arg)
c.*3274C>G (n.*3274C>G)
c.3024C>G (p.Ser1008Arg)
c.198C>G (p.Ser66Arg)
c.1041C>G (p.Ser347Arg)
c.32C>G
c.1100C>G
c.2232C>G (p.Ser744Arg)
c.3360C>G (p.Ser1120Arg)
c.275C>G
c.3540C>G (p.Ser1180Arg)
c.3207C>G (p.Ser1069Arg)
7g.117614695C>TCA457230204CFTRc.3450C>T (p.Ser1150=)
c.*3164C>T (n.*3164C>T)
c.3267C>T (p.Ser1089=)
c.*1825C>T (n.*1825C>T)
c.3444C>T (p.Ser1148=)
c.*3274C>T (n.*3274C>T)
c.3024C>T (p.Ser1008=)
c.198C>T (p.Ser66=)
c.1041C>T (p.Ser347=)
c.32C>T
c.1100C>T
c.2232C>T (p.Ser744=)
c.3360C>T (p.Ser1120=)
c.275C>T
c.3540C>T (p.Ser1180=)
c.3207C>T (p.Ser1069=)
 gnomAD v4
7g.117614696A=CA1737392244CFTRc.3451A= (p.Ile1151=)
c.*3165A= (n.*3165A=)
c.3268A= (p.Ile1090=)
c.*1826A= (n.*1826A=)
c.3445A= (p.Ile1149=)
c.*3275A= (n.*3275A=)
c.3025A= (p.Ile1009=)
c.199A= (p.Ile67=)
c.1042A= (p.Ile348=)
c.33A=
c.1101A=
c.2233A= (p.Ile745=)
c.3361A= (p.Ile1121=)
c.276A=
c.3541A= (p.Ile1181=)
c.3208A= (p.Ile1070=)
7g.117614696A>CCA368993677CFTRc.3451A>C (p.Ile1151Leu)
c.*3165A>C (n.*3165A>C)
c.3268A>C (p.Ile1090Leu)
c.*1826A>C (n.*1826A>C)
c.3445A>C (p.Ile1149Leu)
c.*3275A>C (n.*3275A>C)
c.3025A>C (p.Ile1009Leu)
c.199A>C (p.Ile67Leu)
c.1042A>C (p.Ile348Leu)
c.33A>C
c.1101A>C
c.2233A>C (p.Ile745Leu)
c.3361A>C (p.Ile1121Leu)
c.276A>C
c.3541A>C (p.Ile1181Leu)
c.3208A>C (p.Ile1070Leu)
7g.117614696A>GCA368993682CFTRc.3451A>G (p.Ile1151Val)
c.*3165A>G (n.*3165A>G)
c.3268A>G (p.Ile1090Val)
c.*1826A>G (n.*1826A>G)
c.3445A>G (p.Ile1149Val)
c.*3275A>G (n.*3275A>G)
c.3025A>G (p.Ile1009Val)
c.199A>G (p.Ile67Val)
c.1042A>G (p.Ile348Val)
c.33A>G
c.1101A>G
c.2233A>G (p.Ile745Val)
c.3361A>G (p.Ile1121Val)
c.276A>G
c.3541A>G (p.Ile1181Val)
c.3208A>G (p.Ile1070Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117614696A>TCA368993680CFTRc.3451A>T (p.Ile1151Leu)
c.*3165A>T (n.*3165A>T)
c.3268A>T (p.Ile1090Leu)
c.*1826A>T (n.*1826A>T)
c.3445A>T (p.Ile1149Leu)
c.*3275A>T (n.*3275A>T)
c.3025A>T (p.Ile1009Leu)
c.199A>T (p.Ile67Leu)
c.1042A>T (p.Ile348Leu)
c.33A>T
c.1101A>T
c.2233A>T (p.Ile745Leu)
c.3361A>T (p.Ile1121Leu)
c.276A>T
c.3541A>T (p.Ile1181Leu)
c.3208A>T (p.Ile1070Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.117614697T>ACA368993684CFTRc.3452T>A (p.Ile1151Lys)
c.*3166T>A (n.*3166T>A)
c.3269T>A (p.Ile1090Lys)
c.*1827T>A (n.*1827T>A)
c.3446T>A (p.Ile1149Lys)
c.*3276T>A (n.*3276T>A)
c.3026T>A (p.Ile1009Lys)
c.200T>A (p.Ile67Lys)
c.1043T>A (p.Ile348Lys)
c.34T>A
c.1102T>A
c.2234T>A (p.Ile745Lys)
c.3362T>A (p.Ile1121Lys)
c.277T>A
c.3542T>A (p.Ile1181Lys)
c.3209T>A (p.Ile1070Lys)
 ClinVar dbSNP
7g.117614697T>CCA368993687CFTRc.3452T>C (p.Ile1151Thr)
c.*3166T>C (n.*3166T>C)
c.3269T>C (p.Ile1090Thr)
c.*1827T>C (n.*1827T>C)
c.3446T>C (p.Ile1149Thr)
c.*3276T>C (n.*3276T>C)
c.3026T>C (p.Ile1009Thr)
c.200T>C (p.Ile67Thr)
c.1043T>C (p.Ile348Thr)
c.34T>C
c.1102T>C
c.2234T>C (p.Ile745Thr)
c.3362T>C (p.Ile1121Thr)
c.277T>C
c.3542T>C (p.Ile1181Thr)
c.3209T>C (p.Ile1070Thr)
7g.117614697T>GCA368993689CFTRc.3452T>G (p.Ile1151Arg)
c.*3166T>G (n.*3166T>G)
c.3269T>G (p.Ile1090Arg)
c.*1827T>G (n.*1827T>G)
c.3446T>G (p.Ile1149Arg)
c.*3276T>G (n.*3276T>G)
c.3026T>G (p.Ile1009Arg)
c.200T>G (p.Ile67Arg)
c.1043T>G (p.Ile348Arg)
c.34T>G
c.1102T>G
c.2234T>G (p.Ile745Arg)
c.3362T>G (p.Ile1121Arg)
c.277T>G
c.3542T>G (p.Ile1181Arg)
c.3209T>G (p.Ile1070Arg)
7g.117614697T=CA1737392247CFTRc.3452T= (p.Ile1151=)
c.*3166T= (n.*3166T=)
c.3269T= (p.Ile1090=)
c.*1827T= (n.*1827T=)
c.3446T= (p.Ile1149=)
c.*3276T= (n.*3276T=)
c.3026T= (p.Ile1009=)
c.200T= (p.Ile67=)
c.1043T= (p.Ile348=)
c.34T=
c.1102T=
c.2234T= (p.Ile745=)
c.3362T= (p.Ile1121=)
c.277T=
c.3542T= (p.Ile1181=)
c.3209T= (p.Ile1070=)
7g.117614698A>CCA457230206CFTRc.3453A>C (p.Ile1151=)
c.*3167A>C (n.*3167A>C)
c.3270A>C (p.Ile1090=)
c.*1828A>C (n.*1828A>C)
c.3447A>C (p.Ile1149=)
c.*3277A>C (n.*3277A>C)
c.3027A>C (p.Ile1009=)
c.201A>C (p.Ile67=)
c.1044A>C (p.Ile348=)
c.35A>C
c.1103A>C
c.2235A>C (p.Ile745=)
c.3363A>C (p.Ile1121=)
c.278A>C
c.3543A>C (p.Ile1181=)
c.3210A>C (p.Ile1070=)
7g.117614698A>GCA368993691CFTRc.3453A>G (p.Ile1151Met)
c.*3167A>G (n.*3167A>G)
c.3270A>G (p.Ile1090Met)
c.*1828A>G (n.*1828A>G)
c.3447A>G (p.Ile1149Met)
c.*3277A>G (n.*3277A>G)
c.3027A>G (p.Ile1009Met)
c.201A>G (p.Ile67Met)
c.1044A>G (p.Ile348Met)
c.35A>G
c.1103A>G
c.2235A>G (p.Ile745Met)
c.3363A>G (p.Ile1121Met)
c.278A>G
c.3543A>G (p.Ile1181Met)
c.3210A>G (p.Ile1070Met)
7g.117614698A>TCA457230205CFTRc.3453A>T (p.Ile1151=)
c.*3167A>T (n.*3167A>T)
c.3270A>T (p.Ile1090=)
c.*1828A>T (n.*1828A>T)
c.3447A>T (p.Ile1149=)
c.*3277A>T (n.*3277A>T)
c.3027A>T (p.Ile1009=)
c.201A>T (p.Ile67=)
c.1044A>T (p.Ile348=)
c.35A>T
c.1103A>T
c.2235A>T (p.Ile745=)
c.3363A>T (p.Ile1121=)
c.278A>T
c.3543A>T (p.Ile1181=)
c.3210A>T (p.Ile1070=)
7g.117614699G>ACA368993694CFTRc.3454G>A (p.Asp1152Asn)
c.*3168G>A (n.*3168G>A)
c.3271G>A (p.Asp1091Asn)
c.*1829G>A (n.*1829G>A)
c.3448G>A (p.Asp1150Asn)
c.*3278G>A (n.*3278G>A)
c.3028G>A (p.Asp1010Asn)
c.202G>A (p.Asp68Asn)
c.1045G>A (p.Asp349Asn)
c.36G>A
c.1104G>A
c.2236G>A (p.Asp746Asn)
c.3364G>A (p.Asp1122Asn)
c.279G>A
c.3544G>A (p.Asp1182Asn)
c.3211G>A (p.Asp1071Asn)
7g.117614699G>CCA201825CFTRc.3454G>C (p.Asp1152His)
c.*3168G>C (n.*3168G>C)
c.3271G>C (p.Asp1091His)
c.*1829G>C (n.*1829G>C)
c.3448G>C (p.Asp1150His)
c.*3278G>C (n.*3278G>C)
c.3028G>C (p.Asp1010His)
c.202G>C (p.Asp68His)
c.1045G>C (p.Asp349His)
c.36G>C
c.1104G>C
c.2236G>C (p.Asp746His)
c.3364G>C (p.Asp1122His)
c.279G>C
c.3544G>C (p.Asp1182His)
c.3211G>C (p.Asp1071His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117614699G=CA1737392248CFTRc.3454G= (p.Asp1152=)
c.*3168G= (n.*3168G=)
c.3271G= (p.Asp1091=)
c.*1829G= (n.*1829G=)
c.3448G= (p.Asp1150=)
c.*3278G= (n.*3278G=)
c.3028G= (p.Asp1010=)
c.202G= (p.Asp68=)
c.1045G= (p.Asp349=)
c.36G=
c.1104G=
c.2236G= (p.Asp746=)
c.3364G= (p.Asp1122=)
c.279G=
c.3544G= (p.Asp1182=)
c.3211G= (p.Asp1071=)
7g.117614699G>TCA368993696CFTRc.3454G>T (p.Asp1152Tyr)
c.*3168G>T (n.*3168G>T)
c.3271G>T (p.Asp1091Tyr)
c.*1829G>T (n.*1829G>T)
c.3448G>T (p.Asp1150Tyr)
c.*3278G>T (n.*3278G>T)
c.3028G>T (p.Asp1010Tyr)
c.202G>T (p.Asp68Tyr)
c.1045G>T (p.Asp349Tyr)
c.36G>T
c.1104G>T
c.2236G>T (p.Asp746Tyr)
c.3364G>T (p.Asp1122Tyr)
c.279G>T
c.3544G>T (p.Asp1182Tyr)
c.3211G>T (p.Asp1071Tyr)

Number of alleles fetched