Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117624642_117629920delCA915945441CFTRc.3469-2880_3517+2350del
c.*3183-2880_*3431+2150del
c.3286-2880_3534+2150del
c.3469-2880_3717+2150del
c.3469-1362_*370+2150del
c.3469-1362_*378+2150del
c.*1844-2880_*2092+2150del
c.3463-2880_3711+2150del
c.*3293-2880_*3541+2150del
c.3043-2880_3291+2150del
c.217-2880_465+2150del
c.1060-1362_1504+2150del
c.51-2880_299+2150del
c.1119-2880_1167+2350del
c.3379-2880_3627+2150del
c.3559-2880_3807+2150del
c.3226-2880_3474+2150del
ClinVar
7g.117627333_117631592delCA915945443CFTRc.3469-189_3517+4022del
c.*3183-189_*3431+3822del
c.3286-189_3534+3822del
c.3469-189_3717+3822del
c.*122-189_*370+3822del
c.*130-189_*378+3822del
c.*1844-189_*2092+3822del
c.3463-189_3711+3822del
c.*3293-189_*3541+3822del
c.3043-189_3291+3822del
c.217-189_465+3822del
c.1256-189_1504+3822del
c.51-189_299+3822del
c.1119-189_1167+4022del
c.3379-189_3627+3822del
c.3559-189_3807+3822del
c.3226-189_3474+3822del
7g.117627470_117632802dupCA2580614241CFTRc.3469-52_3517+5232dup
c.*3183-52_*3431+5032dup
c.3286-52_3534+5032dup
c.3469-52_3717+5032dup
c.*122-52_*370+5032dup
c.*130-52_*378+5032dup
c.*1844-52_*2092+5032dup
c.3463-52_3711+5032dup
c.*3293-52_*3541+5032dup
c.3043-52_3291+5032dup
c.217-52_465+5032dup
c.1256-52_1504+5032dup
c.51-52_299+5032dup
c.1119-52_1167+5232dup
c.3379-52_3627+5032dup
c.3559-52_3807+5032dup
c.3226-52_3474+5032dup
7g.117627522_117627770delCA327202CFTRc.3469_3517+200del
c.*3183_*3431del
c.3286_3534del
c.3469_3717del
c.*122_*370del
c.*130_*378del
c.*1844_*2092del
c.3463_3711del
c.*3293_*3541del
c.3043_3291del
c.217_465del
c.1256_1504del
c.51_299del
c.1119_1167+200del
c.2251_2499del
c.3379_3627del
c.294_542del
c.3559_3807del
c.3226_3474del
7g.117627537C>ACA457231156CFTRc.3484C>A (p.Arg1162=)
c.*3198C>A (n.*3198C>A)
c.3301C>A (p.Arg1101=)
c.*137C>A (n.*137C>A)
c.*145C>A (n.*145C>A)
c.*1859C>A (n.*1859C>A)
c.3478C>A (p.Arg1160=)
c.*3308C>A (n.*3308C>A)
c.3058C>A (p.Arg1020=)
c.232C>A (p.Arg78=)
c.1271C>A (n.1271C>A)
c.66C>A
c.1134C>A
c.2266C>A (p.Arg756=)
c.3394C>A (p.Arg1132=)
c.309C>A
c.3574C>A (p.Arg1192=)
c.3241C>A (p.Arg1081=)
7g.117627537C=CA1737398608CFTRc.3484C= (p.Arg1162=)
c.*3198C= (n.*3198C=)
c.3301C= (p.Arg1101=)
c.*137C= (n.*137C=)
c.*145C= (n.*145C=)
c.*1859C= (n.*1859C=)
c.3478C= (p.Arg1160=)
c.*3308C= (n.*3308C=)
c.3058C= (p.Arg1020=)
c.232C= (p.Arg78=)
c.1271C= (n.1271C=)
c.66C=
c.1134C=
c.2266C= (p.Arg756=)
c.3394C= (p.Arg1132=)
c.309C=
c.3574C= (p.Arg1192=)
c.3241C= (p.Arg1081=)
7g.117627537C>GCA368996002CFTRc.3484C>G (p.Arg1162Gly)
c.*3198C>G (n.*3198C>G)
c.3301C>G (p.Arg1101Gly)
c.*137C>G (n.*137C>G)
c.*145C>G (n.*145C>G)
c.*1859C>G (n.*1859C>G)
c.3478C>G (p.Arg1160Gly)
c.*3308C>G (n.*3308C>G)
c.3058C>G (p.Arg1020Gly)
c.232C>G (p.Arg78Gly)
c.1271C>G (n.1271C>G)
c.66C>G
c.1134C>G
c.2266C>G (p.Arg756Gly)
c.3394C>G (p.Arg1132Gly)
c.309C>G
c.3574C>G (p.Arg1192Gly)
c.3241C>G (p.Arg1081Gly)
7g.117627537C>TCA340642CFTRc.3484C>T (p.Arg1162Ter)
c.*3198C>T (n.*3198C>T)
c.3301C>T (p.Arg1101Ter)
c.*137C>T (n.*137C>T)
c.*145C>T (n.*145C>T)
c.*1859C>T (n.*1859C>T)
c.3478C>T (p.Arg1160Ter)
c.*3308C>T (n.*3308C>T)
c.3058C>T (p.Arg1020Ter)
c.232C>T (p.Arg78Ter)
c.1271C>T (n.1271C>T)
c.66C>T
c.1134C>T
c.2266C>T (p.Arg756Ter)
c.3394C>T (p.Arg1132Ter)
c.309C>T
c.3574C>T (p.Arg1192Ter)
c.3241C>T (p.Arg1081Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627537_117627539delinsCGACA1737398609CFTRc.3484_3486delinsCGA (p.Arg1162=)
c.*3198_*3200delinsCGA (n.*3198_*3200delinsCGA)
c.3301_3303delinsCGA (p.Arg1101=)
c.*137_*139delinsCGA (n.*137_*139delinsCGA)
c.*145_*147delinsCGA (n.*145_*147delinsCGA)
c.*1859_*1861delinsCGA (n.*1859_*1861delinsCGA)
c.3478_3480delinsCGA (p.Arg1160=)
c.*3308_*3310delinsCGA (n.*3308_*3310delinsCGA)
c.3058_3060delinsCGA (p.Arg1020=)
c.232_234delinsCGA (p.Arg78=)
c.1271_1273delinsCGA (n.1271_1273delinsCGA)
c.66_68delinsCGA
c.1134_1136delinsCGA
c.2266_2268delinsCGA (p.Arg756=)
c.3394_3396delinsCGA (p.Arg1132=)
c.309_311delinsCGA
c.3574_3576delinsCGA (p.Arg1192=)
c.3241_3243delinsCGA (p.Arg1081=)
7g.117627538G>ACA4451485CFTRc.3485G>A (p.Arg1162Gln)
c.*3199G>A (n.*3199G>A)
c.3302G>A (p.Arg1101Gln)
c.*138G>A (n.*138G>A)
c.*146G>A (n.*146G>A)
c.*1860G>A (n.*1860G>A)
c.3479G>A (p.Arg1160Gln)
c.*3309G>A (n.*3309G>A)
c.3059G>A (p.Arg1020Gln)
c.233G>A (p.Arg78Gln)
c.1272G>A (n.1272G>A)
c.67G>A
c.1135G>A
c.2267G>A (p.Arg756Gln)
c.3395G>A (p.Arg1132Gln)
c.310G>A
c.3575G>A (p.Arg1192Gln)
c.3242G>A (p.Arg1081Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627538G>CCA164976465CFTRc.3485G>C (p.Arg1162Pro)
c.*3199G>C (n.*3199G>C)
c.3302G>C (p.Arg1101Pro)
c.*138G>C (n.*138G>C)
c.*146G>C (n.*146G>C)
c.*1860G>C (n.*1860G>C)
c.3479G>C (p.Arg1160Pro)
c.*3309G>C (n.*3309G>C)
c.3059G>C (p.Arg1020Pro)
c.233G>C (p.Arg78Pro)
c.1272G>C (n.1272G>C)
c.67G>C
c.1135G>C
c.2267G>C (p.Arg756Pro)
c.3395G>C (p.Arg1132Pro)
c.310G>C
c.3575G>C (p.Arg1192Pro)
c.3242G>C (p.Arg1081Pro)
ClinVar dbSNP gnomAD v4
7g.117627538G=CA1737398610CFTRc.3485G= (p.Arg1162=)
c.*3199G= (n.*3199G=)
c.3302G= (p.Arg1101=)
c.*138G= (n.*138G=)
c.*146G= (n.*146G=)
c.*1860G= (n.*1860G=)
c.3479G= (p.Arg1160=)
c.*3309G= (n.*3309G=)
c.3059G= (p.Arg1020=)
c.233G= (p.Arg78=)
c.1272G= (n.1272G=)
c.67G=
c.1135G=
c.2267G= (p.Arg756=)
c.3395G= (p.Arg1132=)
c.310G=
c.3575G= (p.Arg1192=)
c.3242G= (p.Arg1081=)
7g.117627538G>TCA4451484CFTRc.3485G>T (p.Arg1162Leu)
c.*3199G>T (n.*3199G>T)
c.3302G>T (p.Arg1101Leu)
c.*138G>T (n.*138G>T)
c.*146G>T (n.*146G>T)
c.*1860G>T (n.*1860G>T)
c.3479G>T (p.Arg1160Leu)
c.*3309G>T (n.*3309G>T)
c.3059G>T (p.Arg1020Leu)
c.233G>T (p.Arg78Leu)
c.1272G>T (n.1272G>T)
c.67G>T
c.1135G>T
c.2267G>T (p.Arg756Leu)
c.3395G>T (p.Arg1132Leu)
c.310G>T
c.3575G>T (p.Arg1192Leu)
c.3242G>T (p.Arg1081Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627539_117627540delCA327214CFTRc.3486_3487del (p.Val1163LeufsTer2)
c.*3200_*3201del (n.*3200_*3201del)
c.3303_3304del (p.Val1102LeufsTer2)
c.*139_*140del (n.*139_*140del)
c.*147_*148del (n.*147_*148del)
c.*1861_*1862del (n.*1861_*1862del)
c.3480_3481del (p.Val1161LeufsTer2)
c.*3310_*3311del (n.*3310_*3311del)
c.3060_3061del (p.Val1021LeufsTer2)
c.234_235del (p.Val79LeufsTer2)
c.1273_1274del (n.1273_1274del)
c.68_69del
c.1136_1137del
c.2268_2269del (p.Val757LeufsTer2)
c.3396_3397del (p.Val1133LeufsTer2)
c.311_312del
c.3576_3577del (p.Val1193LeufsTer2)
c.3243_3244del (p.Val1082LeufsTer2)
ClinVar dbSNP
7g.117627539A>CCA457231160CFTRc.3486A>C (p.Arg1162=)
c.*3200A>C (n.*3200A>C)
c.3303A>C (p.Arg1101=)
c.*139A>C (n.*139A>C)
c.*147A>C (n.*147A>C)
c.*1861A>C (n.*1861A>C)
c.3480A>C (p.Arg1160=)
c.*3310A>C (n.*3310A>C)
c.3060A>C (p.Arg1020=)
c.234A>C (p.Arg78=)
c.1273A>C (n.1273A>C)
c.68A>C
c.1136A>C
c.2268A>C (p.Arg756=)
c.3396A>C (p.Arg1132=)
c.311A>C
c.3576A>C (p.Arg1192=)
c.3243A>C (p.Arg1081=)
7g.117627539A>GCA457231161CFTRc.3486A>G (p.Arg1162=)
c.*3200A>G (n.*3200A>G)
c.3303A>G (p.Arg1101=)
c.*139A>G (n.*139A>G)
c.*147A>G (n.*147A>G)
c.*1861A>G (n.*1861A>G)
c.3480A>G (p.Arg1160=)
c.*3310A>G (n.*3310A>G)
c.3060A>G (p.Arg1020=)
c.234A>G (p.Arg78=)
c.1273A>G (n.1273A>G)
c.68A>G
c.1136A>G
c.2268A>G (p.Arg756=)
c.3396A>G (p.Arg1132=)
c.311A>G
c.3576A>G (p.Arg1192=)
c.3243A>G (p.Arg1081=)
7g.117627539A>TCA457231162CFTRc.3486A>T (p.Arg1162=)
c.*3200A>T (n.*3200A>T)
c.3303A>T (p.Arg1101=)
c.*139A>T (n.*139A>T)
c.*147A>T (n.*147A>T)
c.*1861A>T (n.*1861A>T)
c.3480A>T (p.Arg1160=)
c.*3310A>T (n.*3310A>T)
c.3060A>T (p.Arg1020=)
c.234A>T (p.Arg78=)
c.1273A>T (n.1273A>T)
c.68A>T
c.1136A>T
c.2268A>T (p.Arg756=)
c.3396A>T (p.Arg1132=)
c.311A>T
c.3576A>T (p.Arg1192=)
c.3243A>T (p.Arg1081=)
7g.117627540G>ACA368996015CFTRc.3487G>A (p.Val1163Ile)
c.*3201G>A (n.*3201G>A)
c.3304G>A (p.Val1102Ile)
c.*140G>A (n.*140G>A)
c.*148G>A (n.*148G>A)
c.*1862G>A (n.*1862G>A)
c.3481G>A (p.Val1161Ile)
c.*3311G>A (n.*3311G>A)
c.3061G>A (p.Val1021Ile)
c.235G>A (p.Val79Ile)
c.1274G>A (n.1274G>A)
c.69G>A
c.1137G>A
c.2269G>A (p.Val757Ile)
c.3397G>A (p.Val1133Ile)
c.312G>A
c.3577G>A (p.Val1193Ile)
c.3244G>A (p.Val1082Ile)
ClinVar
7g.117627540G>CCA368996018CFTRc.3487G>C (p.Val1163Leu)
c.*3201G>C (n.*3201G>C)
c.3304G>C (p.Val1102Leu)
c.*140G>C (n.*140G>C)
c.*148G>C (n.*148G>C)
c.*1862G>C (n.*1862G>C)
c.3481G>C (p.Val1161Leu)
c.*3311G>C (n.*3311G>C)
c.3061G>C (p.Val1021Leu)
c.235G>C (p.Val79Leu)
c.1274G>C (n.1274G>C)
c.69G>C
c.1137G>C
c.2269G>C (p.Val757Leu)
c.3397G>C (p.Val1133Leu)
c.312G>C
c.3577G>C (p.Val1193Leu)
c.3244G>C (p.Val1082Leu)
7g.117627540G>TCA368996020CFTRc.3487G>T (p.Val1163Phe)
c.*3201G>T (n.*3201G>T)
c.3304G>T (p.Val1102Phe)
c.*140G>T (n.*140G>T)
c.*148G>T (n.*148G>T)
c.*1862G>T (n.*1862G>T)
c.3481G>T (p.Val1161Phe)
c.*3311G>T (n.*3311G>T)
c.3061G>T (p.Val1021Phe)
c.235G>T (p.Val79Phe)
c.1274G>T (n.1274G>T)
c.69G>T
c.1137G>T
c.2269G>T (p.Val757Phe)
c.3397G>T (p.Val1133Phe)
c.312G>T
c.3577G>T (p.Val1193Phe)
c.3244G>T (p.Val1082Phe)
7g.117627541T>ACA368996023CFTRc.3488T>A (p.Val1163Asp)
c.*3202T>A (n.*3202T>A)
c.3305T>A (p.Val1102Asp)
c.*141T>A (n.*141T>A)
c.*149T>A (n.*149T>A)
c.*1863T>A (n.*1863T>A)
c.3482T>A (p.Val1161Asp)
c.*3312T>A (n.*3312T>A)
c.3062T>A (p.Val1021Asp)
c.236T>A (p.Val79Asp)
c.1275T>A (n.1275T>A)
c.70T>A
c.1138T>A
c.2270T>A (p.Val757Asp)
c.3398T>A (p.Val1133Asp)
c.313T>A
c.3578T>A (p.Val1193Asp)
c.3245T>A (p.Val1082Asp)
7g.117627541T>CCA368996026CFTRc.3488T>C (p.Val1163Ala)
c.*3202T>C (n.*3202T>C)
c.3305T>C (p.Val1102Ala)
c.*141T>C (n.*141T>C)
c.*149T>C (n.*149T>C)
c.*1863T>C (n.*1863T>C)
c.3482T>C (p.Val1161Ala)
c.*3312T>C (n.*3312T>C)
c.3062T>C (p.Val1021Ala)
c.236T>C (p.Val79Ala)
c.1275T>C (n.1275T>C)
c.70T>C
c.1138T>C
c.2270T>C (p.Val757Ala)
c.3398T>C (p.Val1133Ala)
c.313T>C
c.3578T>C (p.Val1193Ala)
c.3245T>C (p.Val1082Ala)
7g.117627541T>GCA164976470CFTRc.3488T>G (p.Val1163Gly)
c.*3202T>G (n.*3202T>G)
c.3305T>G (p.Val1102Gly)
c.*141T>G (n.*141T>G)
c.*149T>G (n.*149T>G)
c.*1863T>G (n.*1863T>G)
c.3482T>G (p.Val1161Gly)
c.*3312T>G (n.*3312T>G)
c.3062T>G (p.Val1021Gly)
c.236T>G (p.Val79Gly)
c.1275T>G (n.1275T>G)
c.70T>G
c.1138T>G
c.2270T>G (p.Val757Gly)
c.3398T>G (p.Val1133Gly)
c.313T>G
c.3578T>G (p.Val1193Gly)
c.3245T>G (p.Val1082Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117627541T=CA1737398611CFTRc.3488T= (p.Val1163=)
c.*3202T= (n.*3202T=)
c.3305T= (p.Val1102=)
c.*141T= (n.*141T=)
c.*149T= (n.*149T=)
c.*1863T= (n.*1863T=)
c.3482T= (p.Val1161=)
c.*3312T= (n.*3312T=)
c.3062T= (p.Val1021=)
c.236T= (p.Val79=)
c.1275T= (n.1275T=)
c.70T=
c.1138T=
c.2270T= (p.Val757=)
c.3398T= (p.Val1133=)
c.313T=
c.3578T= (p.Val1193=)
c.3245T= (p.Val1082=)
7g.117627542C>ACA457231164CFTRc.3489C>A (p.Val1163=)
c.*3203C>A (n.*3203C>A)
c.3306C>A (p.Val1102=)
c.*142C>A (n.*142C>A)
c.*150C>A (n.*150C>A)
c.*1864C>A (n.*1864C>A)
c.3483C>A (p.Val1161=)
c.*3313C>A (n.*3313C>A)
c.3063C>A (p.Val1021=)
c.237C>A (p.Val79=)
c.1276C>A (n.1276C>A)
c.71C>A
c.1139C>A
c.2271C>A (p.Val757=)
c.3399C>A (p.Val1133=)
c.314C>A
c.3579C>A (p.Val1193=)
c.3246C>A (p.Val1082=)
7g.117627542C=CA1737398612CFTRc.3489C= (p.Val1163=)
c.*3203C= (n.*3203C=)
c.3306C= (p.Val1102=)
c.*142C= (n.*142C=)
c.*150C= (n.*150C=)
c.*1864C= (n.*1864C=)
c.3483C= (p.Val1161=)
c.*3313C= (n.*3313C=)
c.3063C= (p.Val1021=)
c.237C= (p.Val79=)
c.1276C= (n.1276C=)
c.71C=
c.1139C=
c.2271C= (p.Val757=)
c.3399C= (p.Val1133=)
c.314C=
c.3579C= (p.Val1193=)
c.3246C= (p.Val1082=)
7g.117627542C>GCA457231166CFTRc.3489C>G (p.Val1163=)
c.*3203C>G (n.*3203C>G)
c.3306C>G (p.Val1102=)
c.*142C>G (n.*142C>G)
c.*150C>G (n.*150C>G)
c.*1864C>G (n.*1864C>G)
c.3483C>G (p.Val1161=)
c.*3313C>G (n.*3313C>G)
c.3063C>G (p.Val1021=)
c.237C>G (p.Val79=)
c.1276C>G (n.1276C>G)
c.71C>G
c.1139C>G
c.2271C>G (p.Val757=)
c.3399C>G (p.Val1133=)
c.314C>G
c.3579C>G (p.Val1193=)
c.3246C>G (p.Val1082=)
7g.117627542C>TCA457231165CFTRc.3489C>T (p.Val1163=)
c.*3203C>T (n.*3203C>T)
c.3306C>T (p.Val1102=)
c.*142C>T (n.*142C>T)
c.*150C>T (n.*150C>T)
c.*1864C>T (n.*1864C>T)
c.3483C>T (p.Val1161=)
c.*3313C>T (n.*3313C>T)
c.3063C>T (p.Val1021=)
c.237C>T (p.Val79=)
c.1276C>T (n.1276C>T)
c.71C>T
c.1139C>T
c.2271C>T (p.Val757=)
c.3399C>T (p.Val1133=)
c.314C>T
c.3579C>T (p.Val1193=)
c.3246C>T (p.Val1082=)
7g.117627543T>ACA368996028CFTRc.3490T>A (p.Phe1164Ile)
c.*3204T>A (n.*3204T>A)
c.3307T>A (p.Phe1103Ile)
c.*143T>A (n.*143T>A)
c.*151T>A (n.*151T>A)
c.*1865T>A (n.*1865T>A)
c.3484T>A (p.Phe1162Ile)
c.*3314T>A (n.*3314T>A)
c.3064T>A (p.Phe1022Ile)
c.238T>A (p.Phe80Ile)
c.1277T>A (n.1277T>A)
c.72T>A
c.1140T>A
c.2272T>A (p.Phe758Ile)
c.3400T>A (p.Phe1134Ile)
c.315T>A
c.3580T>A (p.Phe1194Ile)
c.3247T>A (p.Phe1083Ile)
7g.117627543T>CCA368996032CFTRc.3490T>C (p.Phe1164Leu)
c.*3204T>C (n.*3204T>C)
c.3307T>C (p.Phe1103Leu)
c.*143T>C (n.*143T>C)
c.*151T>C (n.*151T>C)
c.*1865T>C (n.*1865T>C)
c.3484T>C (p.Phe1162Leu)
c.*3314T>C (n.*3314T>C)
c.3064T>C (p.Phe1022Leu)
c.238T>C (p.Phe80Leu)
c.1277T>C (n.1277T>C)
c.72T>C
c.1140T>C
c.2272T>C (p.Phe758Leu)
c.3400T>C (p.Phe1134Leu)
c.315T>C
c.3580T>C (p.Phe1194Leu)
c.3247T>C (p.Phe1083Leu)
dbSNP gnomAD v3 gnomAD v4
7g.117627543T>GCA368996035CFTRc.3490T>G (p.Phe1164Val)
c.*3204T>G (n.*3204T>G)
c.3307T>G (p.Phe1103Val)
c.*143T>G (n.*143T>G)
c.*151T>G (n.*151T>G)
c.*1865T>G (n.*1865T>G)
c.3484T>G (p.Phe1162Val)
c.*3314T>G (n.*3314T>G)
c.3064T>G (p.Phe1022Val)
c.238T>G (p.Phe80Val)
c.1277T>G (n.1277T>G)
c.72T>G
c.1140T>G
c.2272T>G (p.Phe758Val)
c.3400T>G (p.Phe1134Val)
c.315T>G
c.3580T>G (p.Phe1194Val)
c.3247T>G (p.Phe1083Val)
7g.117627543T=CA1737398613CFTRc.3490T= (p.Phe1164=)
c.*3204T= (n.*3204T=)
c.3307T= (p.Phe1103=)
c.*143T= (n.*143T=)
c.*151T= (n.*151T=)
c.*1865T= (n.*1865T=)
c.3484T= (p.Phe1162=)
c.*3314T= (n.*3314T=)
c.3064T= (p.Phe1022=)
c.238T= (p.Phe80=)
c.1277T= (n.1277T=)
c.72T=
c.1140T=
c.2272T= (p.Phe758=)
c.3400T= (p.Phe1134=)
c.315T=
c.3580T= (p.Phe1194=)
c.3247T= (p.Phe1083=)
7g.117627545dupCA325610CFTRc.3492dup (p.Lys1165Ter)
c.*3206dup (n.*3206dup)
c.3309dup (p.Lys1104Ter)
c.*145dup (n.*145dup)
c.*153dup (n.*153dup)
c.*1867dup (n.*1867dup)
c.3486dup (p.Lys1163Ter)
c.*3316dup (n.*3316dup)
c.3066dup (p.Lys1023Ter)
c.240dup (p.Lys81Ter)
c.1279dup (n.1279dup)
c.74dup
c.1142dup
c.2274dup (p.Lys759Ter)
c.3402dup (p.Lys1135Ter)
c.317dup
c.3582dup (p.Lys1195Ter)
c.3249dup (p.Lys1084Ter)
ClinVar dbSNP
7g.117627545delCA2695199623CFTRc.3492del (p.Phe1164LeufsTer?)
c.*3206del (n.*3206del)
c.3309del (p.Phe1103LeufsTer28)
c.3492del (p.Phe1164LeufsTer28)
c.*145del (n.*145del)
c.*153del (n.*153del)
c.*1867del (n.*1867del)
c.3486del (p.Phe1162LeufsTer28)
c.*3316del (n.*3316del)
c.3066del (p.Phe1022LeufsTer28)
c.240del (p.Phe80LeufsTer28)
c.1279del (n.1279del)
c.74del
c.1142del
c.2274del (p.Phe758LeufsTer28)
c.3402del (p.Phe1134LeufsTer28)
c.317del
c.3582del (p.Phe1194LeufsTer28)
c.3249del (p.Phe1083LeufsTer28)
7g.117627544T>ACA368996048CFTRc.3491T>A (p.Phe1164Tyr)
c.*3205T>A (n.*3205T>A)
c.3308T>A (p.Phe1103Tyr)
c.*144T>A (n.*144T>A)
c.*152T>A (n.*152T>A)
c.*1866T>A (n.*1866T>A)
c.3485T>A (p.Phe1162Tyr)
c.*3315T>A (n.*3315T>A)
c.3065T>A (p.Phe1022Tyr)
c.239T>A (p.Phe80Tyr)
c.1278T>A (n.1278T>A)
c.73T>A
c.1141T>A
c.2273T>A (p.Phe758Tyr)
c.3401T>A (p.Phe1134Tyr)
c.316T>A
c.3581T>A (p.Phe1194Tyr)
c.3248T>A (p.Phe1083Tyr)
7g.117627544T>CCA368996045CFTRc.3491T>C (p.Phe1164Ser)
c.*3205T>C (n.*3205T>C)
c.3308T>C (p.Phe1103Ser)
c.*144T>C (n.*144T>C)
c.*152T>C (n.*152T>C)
c.*1866T>C (n.*1866T>C)
c.3485T>C (p.Phe1162Ser)
c.*3315T>C (n.*3315T>C)
c.3065T>C (p.Phe1022Ser)
c.239T>C (p.Phe80Ser)
c.1278T>C (n.1278T>C)
c.73T>C
c.1141T>C
c.2273T>C (p.Phe758Ser)
c.3401T>C (p.Phe1134Ser)
c.316T>C
c.3581T>C (p.Phe1194Ser)
c.3248T>C (p.Phe1083Ser)
7g.117627544T>GCA368996043CFTRc.3491T>G (p.Phe1164Cys)
c.*3205T>G (n.*3205T>G)
c.3308T>G (p.Phe1103Cys)
c.*144T>G (n.*144T>G)
c.*152T>G (n.*152T>G)
c.*1866T>G (n.*1866T>G)
c.3485T>G (p.Phe1162Cys)
c.*3315T>G (n.*3315T>G)
c.3065T>G (p.Phe1022Cys)
c.239T>G (p.Phe80Cys)
c.1278T>G (n.1278T>G)
c.73T>G
c.1141T>G
c.2273T>G (p.Phe758Cys)
c.3401T>G (p.Phe1134Cys)
c.316T>G
c.3581T>G (p.Phe1194Cys)
c.3248T>G (p.Phe1083Cys)
7g.117627545T>ACA368996051CFTRc.3492T>A (p.Phe1164Leu)
c.*3206T>A (n.*3206T>A)
c.3309T>A (p.Phe1103Leu)
c.*145T>A (n.*145T>A)
c.*153T>A (n.*153T>A)
c.*1867T>A (n.*1867T>A)
c.3486T>A (p.Phe1162Leu)
c.*3316T>A (n.*3316T>A)
c.3066T>A (p.Phe1022Leu)
c.240T>A (p.Phe80Leu)
c.1279T>A (n.1279T>A)
c.74T>A
c.1142T>A
c.2274T>A (p.Phe758Leu)
c.3402T>A (p.Phe1134Leu)
c.317T>A
c.3582T>A (p.Phe1194Leu)
c.3249T>A (p.Phe1083Leu)
7g.117627545T>CCA457231168CFTRc.3492T>C (p.Phe1164=)
c.*3206T>C (n.*3206T>C)
c.3309T>C (p.Phe1103=)
c.*145T>C (n.*145T>C)
c.*153T>C (n.*153T>C)
c.*1867T>C (n.*1867T>C)
c.3486T>C (p.Phe1162=)
c.*3316T>C (n.*3316T>C)
c.3066T>C (p.Phe1022=)
c.240T>C (p.Phe80=)
c.1279T>C (n.1279T>C)
c.74T>C
c.1142T>C
c.2274T>C (p.Phe758=)
c.3402T>C (p.Phe1134=)
c.317T>C
c.3582T>C (p.Phe1194=)
c.3249T>C (p.Phe1083=)
7g.117627545T>GCA368996052CFTRc.3492T>G (p.Phe1164Leu)
c.*3206T>G (n.*3206T>G)
c.3309T>G (p.Phe1103Leu)
c.*145T>G (n.*145T>G)
c.*153T>G (n.*153T>G)
c.*1867T>G (n.*1867T>G)
c.3486T>G (p.Phe1162Leu)
c.*3316T>G (n.*3316T>G)
c.3066T>G (p.Phe1022Leu)
c.240T>G (p.Phe80Leu)
c.1279T>G (n.1279T>G)
c.74T>G
c.1142T>G
c.2274T>G (p.Phe758Leu)
c.3402T>G (p.Phe1134Leu)
c.317T>G
c.3582T>G (p.Phe1194Leu)
c.3249T>G (p.Phe1083Leu)
7g.117627546A>CCA368996053CFTRc.3493A>C (p.Lys1165Gln)
c.*3207A>C (n.*3207A>C)
c.3310A>C (p.Lys1104Gln)
c.*146A>C (n.*146A>C)
c.*154A>C (n.*154A>C)
c.*1868A>C (n.*1868A>C)
c.3487A>C (p.Lys1163Gln)
c.*3317A>C (n.*3317A>C)
c.3067A>C (p.Lys1023Gln)
c.241A>C (p.Lys81Gln)
c.1280A>C (n.1280A>C)
c.75A>C
c.1143A>C
c.2275A>C (p.Lys759Gln)
c.3403A>C (p.Lys1135Gln)
c.318A>C
c.3583A>C (p.Lys1195Gln)
c.3250A>C (p.Lys1084Gln)
7g.117627546A>GCA368996054CFTRc.3493A>G (p.Lys1165Glu)
c.*3207A>G (n.*3207A>G)
c.3310A>G (p.Lys1104Glu)
c.*146A>G (n.*146A>G)
c.*154A>G (n.*154A>G)
c.*1868A>G (n.*1868A>G)
c.3487A>G (p.Lys1163Glu)
c.*3317A>G (n.*3317A>G)
c.3067A>G (p.Lys1023Glu)
c.241A>G (p.Lys81Glu)
c.1280A>G (n.1280A>G)
c.75A>G
c.1143A>G
c.2275A>G (p.Lys759Glu)
c.3403A>G (p.Lys1135Glu)
c.318A>G
c.3583A>G (p.Lys1195Glu)
c.3250A>G (p.Lys1084Glu)
7g.117627546A>TCA368996055CFTRc.3493A>T (p.Lys1165Ter)
c.*3207A>T (n.*3207A>T)
c.3310A>T (p.Lys1104Ter)
c.*146A>T (n.*146A>T)
c.*154A>T (n.*154A>T)
c.*1868A>T (n.*1868A>T)
c.3487A>T (p.Lys1163Ter)
c.*3317A>T (n.*3317A>T)
c.3067A>T (p.Lys1023Ter)
c.241A>T (p.Lys81Ter)
c.1280A>T (n.1280A>T)
c.75A>T
c.1143A>T
c.2275A>T (p.Lys759Ter)
c.3403A>T (p.Lys1135Ter)
c.318A>T
c.3583A>T (p.Lys1195Ter)
c.3250A>T (p.Lys1084Ter)
7g.117627546_117627547delinsTCA2580076325CFTRc.3493_3494delinsT (p.Lys1165CysfsTer?)
c.*3207_*3208delinsT (n.*3207_*3208delinsT)
c.3310_3311delinsT (p.Lys1104CysfsTer27)
c.3493_3494delinsT (p.Lys1165CysfsTer27)
c.*146_*147delinsT (n.*146_*147delinsT)
c.*154_*155delinsT (n.*154_*155delinsT)
c.*1868_*1869delinsT (n.*1868_*1869delinsT)
c.3487_3488delinsT (p.Lys1163CysfsTer27)
c.*3317_*3318delinsT (n.*3317_*3318delinsT)
c.3067_3068delinsT (p.Lys1023CysfsTer27)
c.241_242delinsT (p.Lys81CysfsTer27)
c.1280_1281delinsT (n.1280_1281delinsT)
c.75_76delinsT
c.1143_1144delinsT
c.2275_2276delinsT (p.Lys759CysfsTer27)
c.3403_3404delinsT (p.Lys1135CysfsTer27)
c.318_319delinsT
c.3583_3584delinsT (p.Lys1195CysfsTer27)
c.3250_3251delinsT (p.Lys1084CysfsTer27)
ClinVar
7g.117627547A=CA1737398614CFTRc.3494A= (p.Lys1165=)
c.*3208A= (n.*3208A=)
c.3311A= (p.Lys1104=)
c.*147A= (n.*147A=)
c.*155A= (n.*155A=)
c.*1869A= (n.*1869A=)
c.3488A= (p.Lys1163=)
c.*3318A= (n.*3318A=)
c.3068A= (p.Lys1023=)
c.242A= (p.Lys81=)
c.1281A= (n.1281A=)
c.76A=
c.1144A=
c.2276A= (p.Lys759=)
c.3404A= (p.Lys1135=)
c.319A=
c.3584A= (p.Lys1195=)
c.3251A= (p.Lys1084=)
7g.117627547A>CCA368996057CFTRc.3494A>C (p.Lys1165Thr)
c.*3208A>C (n.*3208A>C)
c.3311A>C (p.Lys1104Thr)
c.*147A>C (n.*147A>C)
c.*155A>C (n.*155A>C)
c.*1869A>C (n.*1869A>C)
c.3488A>C (p.Lys1163Thr)
c.*3318A>C (n.*3318A>C)
c.3068A>C (p.Lys1023Thr)
c.242A>C (p.Lys81Thr)
c.1281A>C (n.1281A>C)
c.76A>C
c.1144A>C
c.2276A>C (p.Lys759Thr)
c.3404A>C (p.Lys1135Thr)
c.319A>C
c.3584A>C (p.Lys1195Thr)
c.3251A>C (p.Lys1084Thr)
ClinVar dbSNP
7g.117627547A>GCA4451486CFTRc.3494A>G (p.Lys1165Arg)
c.*3208A>G (n.*3208A>G)
c.3311A>G (p.Lys1104Arg)
c.*147A>G (n.*147A>G)
c.*155A>G (n.*155A>G)
c.*1869A>G (n.*1869A>G)
c.3488A>G (p.Lys1163Arg)
c.*3318A>G (n.*3318A>G)
c.3068A>G (p.Lys1023Arg)
c.242A>G (p.Lys81Arg)
c.1281A>G (n.1281A>G)
c.76A>G
c.1144A>G
c.2276A>G (p.Lys759Arg)
c.3404A>G (p.Lys1135Arg)
c.319A>G
c.3584A>G (p.Lys1195Arg)
c.3251A>G (p.Lys1084Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627547A>TCA368996060CFTRc.3494A>T (p.Lys1165Met)
c.*3208A>T (n.*3208A>T)
c.3311A>T (p.Lys1104Met)
c.*147A>T (n.*147A>T)
c.*155A>T (n.*155A>T)
c.*1869A>T (n.*1869A>T)
c.3488A>T (p.Lys1163Met)
c.*3318A>T (n.*3318A>T)
c.3068A>T (p.Lys1023Met)
c.242A>T (p.Lys81Met)
c.1281A>T (n.1281A>T)
c.76A>T
c.1144A>T
c.2276A>T (p.Lys759Met)
c.3404A>T (p.Lys1135Met)
c.319A>T
c.3584A>T (p.Lys1195Met)
c.3251A>T (p.Lys1084Met)
7g.117627547_117627548delinsAGCA1737398615CFTRc.3494_3495delinsAG (p.Lys1165=)
c.*3208_*3209delinsAG (n.*3208_*3209delinsAG)
c.3311_3312delinsAG (p.Lys1104=)
c.*147_*148delinsAG (n.*147_*148delinsAG)
c.*155_*156delinsAG (n.*155_*156delinsAG)
c.*1869_*1870delinsAG (n.*1869_*1870delinsAG)
c.3488_3489delinsAG (p.Lys1163=)
c.*3318_*3319delinsAG (n.*3318_*3319delinsAG)
c.3068_3069delinsAG (p.Lys1023=)
c.242_243delinsAG (p.Lys81=)
c.1281_1282delinsAG (n.1281_1282delinsAG)
c.76_77delinsAG
c.1144_1145delinsAG
c.2276_2277delinsAG (p.Lys759=)
c.3404_3405delinsAG (p.Lys1135=)
c.319_320delinsAG
c.3584_3585delinsAG (p.Lys1195=)
c.3251_3252delinsAG (p.Lys1084=)
7g.117627548delCA16041136CFTRc.3495del (p.Lys1165AsnfsTer?)
c.*3209del (n.*3209del)
c.3312del (p.Lys1104AsnfsTer27)
c.3495del (p.Lys1165AsnfsTer27)
c.*148del (n.*148del)
c.*156del (n.*156del)
c.*1870del (n.*1870del)
c.3489del (p.Lys1163AsnfsTer27)
c.*3319del (n.*3319del)
c.3069del (p.Lys1023AsnfsTer27)
c.243del (p.Lys81AsnfsTer27)
c.1282del (n.1282del)
c.77del
c.1145del
c.2277del (p.Lys759AsnfsTer27)
c.3405del (p.Lys1135AsnfsTer27)
c.320del
c.3585del (p.Lys1195AsnfsTer27)
c.3252del (p.Lys1084AsnfsTer27)
ClinVar dbSNP

Number of alleles fetched