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.117627534A=CA1737398606CFTRc.3481A= (p.Ser1161=)
c.*3195A= (n.*3195A=)
c.3298A= (p.Ser1100=)
c.*134A= (n.*134A=)
c.*142A= (n.*142A=)
c.*1856A= (n.*1856A=)
c.3475A= (p.Ser1159=)
c.*3305A= (n.*3305A=)
c.3055A= (p.Ser1019=)
c.229A= (p.Ser77=)
c.1268A= (n.1268A=)
c.63A=
c.1131A=
c.2263A= (p.Ser755=)
c.3391A= (p.Ser1131=)
c.306A=
c.3571A= (p.Ser1191=)
c.3238A= (p.Ser1080=)
7g.117627534A>CCA327212CFTRc.3481A>C (p.Ser1161Arg)
c.*3195A>C (n.*3195A>C)
c.3298A>C (p.Ser1100Arg)
c.*134A>C (n.*134A>C)
c.*142A>C (n.*142A>C)
c.*1856A>C (n.*1856A>C)
c.3475A>C (p.Ser1159Arg)
c.*3305A>C (n.*3305A>C)
c.3055A>C (p.Ser1019Arg)
c.229A>C (p.Ser77Arg)
c.1268A>C (n.1268A>C)
c.63A>C
c.1131A>C
c.2263A>C (p.Ser755Arg)
c.3391A>C (p.Ser1131Arg)
c.306A>C
c.3571A>C (p.Ser1191Arg)
c.3238A>C (p.Ser1080Arg)
 ClinVar dbSNP
7g.117627534A>GCA368995977CFTRc.3481A>G (p.Ser1161Gly)
c.*3195A>G (n.*3195A>G)
c.3298A>G (p.Ser1100Gly)
c.*134A>G (n.*134A>G)
c.*142A>G (n.*142A>G)
c.*1856A>G (n.*1856A>G)
c.3475A>G (p.Ser1159Gly)
c.*3305A>G (n.*3305A>G)
c.3055A>G (p.Ser1019Gly)
c.229A>G (p.Ser77Gly)
c.1268A>G (n.1268A>G)
c.63A>G
c.1131A>G
c.2263A>G (p.Ser755Gly)
c.3391A>G (p.Ser1131Gly)
c.306A>G
c.3571A>G (p.Ser1191Gly)
c.3238A>G (p.Ser1080Gly)
 ClinVar
7g.117627534A>TCA368995980CFTRc.3481A>T (p.Ser1161Cys)
c.*3195A>T (n.*3195A>T)
c.3298A>T (p.Ser1100Cys)
c.*134A>T (n.*134A>T)
c.*142A>T (n.*142A>T)
c.*1856A>T (n.*1856A>T)
c.3475A>T (p.Ser1159Cys)
c.*3305A>T (n.*3305A>T)
c.3055A>T (p.Ser1019Cys)
c.229A>T (p.Ser77Cys)
c.1268A>T (n.1268A>T)
c.63A>T
c.1131A>T
c.2263A>T (p.Ser755Cys)
c.3391A>T (p.Ser1131Cys)
c.306A>T
c.3571A>T (p.Ser1191Cys)
c.3238A>T (p.Ser1080Cys)
7g.117627535G>ACA368995983CFTRc.3482G>A (p.Ser1161Asn)
c.*3196G>A (n.*3196G>A)
c.3299G>A (p.Ser1100Asn)
c.*135G>A (n.*135G>A)
c.*143G>A (n.*143G>A)
c.*1857G>A (n.*1857G>A)
c.3476G>A (p.Ser1159Asn)
c.*3306G>A (n.*3306G>A)
c.3056G>A (p.Ser1019Asn)
c.230G>A (p.Ser77Asn)
c.1269G>A (n.1269G>A)
c.64G>A
c.1132G>A
c.2264G>A (p.Ser755Asn)
c.3392G>A (p.Ser1131Asn)
c.307G>A
c.3572G>A (p.Ser1191Asn)
c.3239G>A (p.Ser1080Asn)
7g.117627535G>CCA368995993CFTRc.3482G>C (p.Ser1161Thr)
c.*3196G>C (n.*3196G>C)
c.3299G>C (p.Ser1100Thr)
c.*135G>C (n.*135G>C)
c.*143G>C (n.*143G>C)
c.*1857G>C (n.*1857G>C)
c.3476G>C (p.Ser1159Thr)
c.*3306G>C (n.*3306G>C)
c.3056G>C (p.Ser1019Thr)
c.230G>C (p.Ser77Thr)
c.1269G>C (n.1269G>C)
c.64G>C
c.1132G>C
c.2264G>C (p.Ser755Thr)
c.3392G>C (p.Ser1131Thr)
c.307G>C
c.3572G>C (p.Ser1191Thr)
c.3239G>C (p.Ser1080Thr)
7g.117627535G=CA1737398607CFTRc.3482G= (p.Ser1161=)
c.*3196G= (n.*3196G=)
c.3299G= (p.Ser1100=)
c.*135G= (n.*135G=)
c.*143G= (n.*143G=)
c.*1857G= (n.*1857G=)
c.3476G= (p.Ser1159=)
c.*3306G= (n.*3306G=)
c.3056G= (p.Ser1019=)
c.230G= (p.Ser77=)
c.1269G= (n.1269G=)
c.64G=
c.1132G=
c.2264G= (p.Ser755=)
c.3392G= (p.Ser1131=)
c.307G=
c.3572G= (p.Ser1191=)
c.3239G= (p.Ser1080=)
7g.117627535G>TCA164976434CFTRc.3482G>T (p.Ser1161Ile)
c.*3196G>T (n.*3196G>T)
c.3299G>T (p.Ser1100Ile)
c.*135G>T (n.*135G>T)
c.*143G>T (n.*143G>T)
c.*1857G>T (n.*1857G>T)
c.3476G>T (p.Ser1159Ile)
c.*3306G>T (n.*3306G>T)
c.3056G>T (p.Ser1019Ile)
c.230G>T (p.Ser77Ile)
c.1269G>T (n.1269G>T)
c.64G>T
c.1132G>T
c.2264G>T (p.Ser755Ile)
c.3392G>T (p.Ser1131Ile)
c.307G>T
c.3572G>T (p.Ser1191Ile)
c.3239G>T (p.Ser1080Ile)
 dbSNP
7g.117627536C>ACA368995997CFTRc.3483C>A (p.Ser1161Arg)
c.*3197C>A (n.*3197C>A)
c.3300C>A (p.Ser1100Arg)
c.*136C>A (n.*136C>A)
c.*144C>A (n.*144C>A)
c.*1858C>A (n.*1858C>A)
c.3477C>A (p.Ser1159Arg)
c.*3307C>A (n.*3307C>A)
c.3057C>A (p.Ser1019Arg)
c.231C>A (p.Ser77Arg)
c.1270C>A (n.1270C>A)
c.65C>A
c.1133C>A
c.2265C>A (p.Ser755Arg)
c.3393C>A (p.Ser1131Arg)
c.308C>A
c.3573C>A (p.Ser1191Arg)
c.3240C>A (p.Ser1080Arg)
7g.117627536C>GCA368995999CFTRc.3483C>G (p.Ser1161Arg)
c.*3197C>G (n.*3197C>G)
c.3300C>G (p.Ser1100Arg)
c.*136C>G (n.*136C>G)
c.*144C>G (n.*144C>G)
c.*1858C>G (n.*1858C>G)
c.3477C>G (p.Ser1159Arg)
c.*3307C>G (n.*3307C>G)
c.3057C>G (p.Ser1019Arg)
c.231C>G (p.Ser77Arg)
c.1270C>G (n.1270C>G)
c.65C>G
c.1133C>G
c.2265C>G (p.Ser755Arg)
c.3393C>G (p.Ser1131Arg)
c.308C>G
c.3573C>G (p.Ser1191Arg)
c.3240C>G (p.Ser1080Arg)
7g.117627536C>TCA457231155CFTRc.3483C>T (p.Ser1161=)
c.*3197C>T (n.*3197C>T)
c.3300C>T (p.Ser1100=)
c.*136C>T (n.*136C>T)
c.*144C>T (n.*144C>T)
c.*1858C>T (n.*1858C>T)
c.3477C>T (p.Ser1159=)
c.*3307C>T (n.*3307C>T)
c.3057C>T (p.Ser1019=)
c.231C>T (p.Ser77=)
c.1270C>T (n.1270C>T)
c.65C>T
c.1133C>T
c.2265C>T (p.Ser755=)
c.3393C>T (p.Ser1131=)
c.308C>T
c.3573C>T (p.Ser1191=)
c.3240C>T (p.Ser1080=)
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)
 ClinVar
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
7g.117627548G>ACA457231170CFTRc.3495G>A (p.Lys1165=)
c.*3209G>A (n.*3209G>A)
c.3312G>A (p.Lys1104=)
c.*148G>A (n.*148G>A)
c.*156G>A (n.*156G>A)
c.*1870G>A (n.*1870G>A)
c.3489G>A (p.Lys1163=)
c.*3319G>A (n.*3319G>A)
c.3069G>A (p.Lys1023=)
c.243G>A (p.Lys81=)
c.1282G>A (n.1282G>A)
c.77G>A
c.1145G>A
c.2277G>A (p.Lys759=)
c.3405G>A (p.Lys1135=)
c.320G>A
c.3585G>A (p.Lys1195=)
c.3252G>A (p.Lys1084=)
7g.117627548G>CCA368996066CFTRc.3495G>C (p.Lys1165Asn)
c.*3209G>C (n.*3209G>C)
c.3312G>C (p.Lys1104Asn)
c.*148G>C (n.*148G>C)
c.*156G>C (n.*156G>C)
c.*1870G>C (n.*1870G>C)
c.3489G>C (p.Lys1163Asn)
c.*3319G>C (n.*3319G>C)
c.3069G>C (p.Lys1023Asn)
c.243G>C (p.Lys81Asn)
c.1282G>C (n.1282G>C)
c.77G>C
c.1145G>C
c.2277G>C (p.Lys759Asn)
c.3405G>C (p.Lys1135Asn)
c.320G>C
c.3585G>C (p.Lys1195Asn)
c.3252G>C (p.Lys1084Asn)
7g.117627548G>TCA368996068CFTRc.3495G>T (p.Lys1165Asn)
c.*3209G>T (n.*3209G>T)
c.3312G>T (p.Lys1104Asn)
c.*148G>T (n.*148G>T)
c.*156G>T (n.*156G>T)
c.*1870G>T (n.*1870G>T)
c.3489G>T (p.Lys1163Asn)
c.*3319G>T (n.*3319G>T)
c.3069G>T (p.Lys1023Asn)
c.243G>T (p.Lys81Asn)
c.1282G>T (n.1282G>T)
c.77G>T
c.1145G>T
c.2277G>T (p.Lys759Asn)
c.3405G>T (p.Lys1135Asn)
c.320G>T
c.3585G>T (p.Lys1195Asn)
c.3252G>T (p.Lys1084Asn)
7g.117627549T>ACA368996073CFTRc.3496T>A (p.Phe1166Ile)
c.*3210T>A (n.*3210T>A)
c.3313T>A (p.Phe1105Ile)
c.*149T>A (n.*149T>A)
c.*157T>A (n.*157T>A)
c.*1871T>A (n.*1871T>A)
c.3490T>A (p.Phe1164Ile)
c.*3320T>A (n.*3320T>A)
c.3070T>A (p.Phe1024Ile)
c.244T>A (p.Phe82Ile)
c.1283T>A (n.1283T>A)
c.78T>A
c.1146T>A
c.2278T>A (p.Phe760Ile)
c.3406T>A (p.Phe1136Ile)
c.321T>A
c.3586T>A (p.Phe1196Ile)
c.3253T>A (p.Phe1085Ile)
7g.117627549T>CCA4451487CFTRc.3496T>C (p.Phe1166Leu)
c.*3210T>C (n.*3210T>C)
c.3313T>C (p.Phe1105Leu)
c.*149T>C (n.*149T>C)
c.*157T>C (n.*157T>C)
c.*1871T>C (n.*1871T>C)
c.3490T>C (p.Phe1164Leu)
c.*3320T>C (n.*3320T>C)
c.3070T>C (p.Phe1024Leu)
c.244T>C (p.Phe82Leu)
c.1283T>C (n.1283T>C)
c.78T>C
c.1146T>C
c.2278T>C (p.Phe760Leu)
c.3406T>C (p.Phe1136Leu)
c.321T>C
c.3586T>C (p.Phe1196Leu)
c.3253T>C (p.Phe1085Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.117627549T>GCA368996078CFTRc.3496T>G (p.Phe1166Val)
c.*3210T>G (n.*3210T>G)
c.3313T>G (p.Phe1105Val)
c.*149T>G (n.*149T>G)
c.*157T>G (n.*157T>G)
c.*1871T>G (n.*1871T>G)
c.3490T>G (p.Phe1164Val)
c.*3320T>G (n.*3320T>G)
c.3070T>G (p.Phe1024Val)
c.244T>G (p.Phe82Val)
c.1283T>G (n.1283T>G)
c.78T>G
c.1146T>G
c.2278T>G (p.Phe760Val)
c.3406T>G (p.Phe1136Val)
c.321T>G
c.3586T>G (p.Phe1196Val)
c.3253T>G (p.Phe1085Val)
7g.117627549T=CA1737398616CFTRc.3496T= (p.Phe1166=)
c.*3210T= (n.*3210T=)
c.3313T= (p.Phe1105=)
c.*149T= (n.*149T=)
c.*157T= (n.*157T=)
c.*1871T= (n.*1871T=)
c.3490T= (p.Phe1164=)
c.*3320T= (n.*3320T=)
c.3070T= (p.Phe1024=)
c.244T= (p.Phe82=)
c.1283T= (n.1283T=)
c.78T=
c.1146T=
c.2278T= (p.Phe760=)
c.3406T= (p.Phe1136=)
c.321T=
c.3586T= (p.Phe1196=)
c.3253T= (p.Phe1085=)
7g.117627550delCA2695208375CFTRc.3497del (p.Phe1166SerfsTer?)
c.*3211del (n.*3211del)
c.3314del (p.Phe1105SerfsTer26)
c.3497del (p.Phe1166SerfsTer26)
c.*150del (n.*150del)
c.*158del (n.*158del)
c.*1872del (n.*1872del)
c.3491del (p.Phe1164SerfsTer26)
c.*3321del (n.*3321del)
c.3071del (p.Phe1024SerfsTer26)
c.245del (p.Phe82SerfsTer26)
c.1284del (n.1284del)
c.79del
c.1147del
c.2279del (p.Phe760SerfsTer26)
c.3407del (p.Phe1136SerfsTer26)
c.322del
c.3587del (p.Phe1196SerfsTer26)
c.3254del (p.Phe1085SerfsTer26)
7g.117627550T>ACA368996086CFTRc.3497T>A (p.Phe1166Tyr)
c.*3211T>A (n.*3211T>A)
c.3314T>A (p.Phe1105Tyr)
c.*150T>A (n.*150T>A)
c.*158T>A (n.*158T>A)
c.*1872T>A (n.*1872T>A)
c.3491T>A (p.Phe1164Tyr)
c.*3321T>A (n.*3321T>A)
c.3071T>A (p.Phe1024Tyr)
c.245T>A (p.Phe82Tyr)
c.1284T>A (n.1284T>A)
c.79T>A
c.1147T>A
c.2279T>A (p.Phe760Tyr)
c.3407T>A (p.Phe1136Tyr)
c.322T>A
c.3587T>A (p.Phe1196Tyr)
c.3254T>A (p.Phe1085Tyr)
7g.117627550T>CCA368996082CFTRc.3497T>C (p.Phe1166Ser)
c.*3211T>C (n.*3211T>C)
c.3314T>C (p.Phe1105Ser)
c.*150T>C (n.*150T>C)
c.*158T>C (n.*158T>C)
c.*1872T>C (n.*1872T>C)
c.3491T>C (p.Phe1164Ser)
c.*3321T>C (n.*3321T>C)
c.3071T>C (p.Phe1024Ser)
c.245T>C (p.Phe82Ser)
c.1284T>C (n.1284T>C)
c.79T>C
c.1147T>C
c.2279T>C (p.Phe760Ser)
c.3407T>C (p.Phe1136Ser)
c.322T>C
c.3587T>C (p.Phe1196Ser)
c.3254T>C (p.Phe1085Ser)
7g.117627550T>GCA327215CFTRc.3497T>G (p.Phe1166Cys)
c.*3211T>G (n.*3211T>G)
c.3314T>G (p.Phe1105Cys)
c.*150T>G (n.*150T>G)
c.*158T>G (n.*158T>G)
c.*1872T>G (n.*1872T>G)
c.3491T>G (p.Phe1164Cys)
c.*3321T>G (n.*3321T>G)
c.3071T>G (p.Phe1024Cys)
c.245T>G (p.Phe82Cys)
c.1284T>G (n.1284T>G)
c.79T>G
c.1147T>G
c.2279T>G (p.Phe760Cys)
c.3407T>G (p.Phe1136Cys)
c.322T>G
c.3587T>G (p.Phe1196Cys)
c.3254T>G (p.Phe1085Cys)
 ClinVar dbSNP gnomAD v4
7g.117627550T=CA1737398617CFTRc.3497T= (p.Phe1166=)
c.*3211T= (n.*3211T=)
c.3314T= (p.Phe1105=)
c.*150T= (n.*150T=)
c.*158T= (n.*158T=)
c.*1872T= (n.*1872T=)
c.3491T= (p.Phe1164=)
c.*3321T= (n.*3321T=)
c.3071T= (p.Phe1024=)
c.245T= (p.Phe82=)
c.1284T= (n.1284T=)
c.79T=
c.1147T=
c.2279T= (p.Phe760=)
c.3407T= (p.Phe1136=)
c.322T=
c.3587T= (p.Phe1196=)
c.3254T= (p.Phe1085=)
7g.117627551C>ACA368996090CFTRc.3498C>A (p.Phe1166Leu)
c.*3212C>A (n.*3212C>A)
c.3315C>A (p.Phe1105Leu)
c.*151C>A (n.*151C>A)
c.*159C>A (n.*159C>A)
c.*1873C>A (n.*1873C>A)
c.3492C>A (p.Phe1164Leu)
c.*3322C>A (n.*3322C>A)
c.3072C>A (p.Phe1024Leu)
c.246C>A (p.Phe82Leu)
c.1285C>A (n.1285C>A)
c.80C>A
c.1148C>A
c.2280C>A (p.Phe760Leu)
c.3408C>A (p.Phe1136Leu)
c.323C>A
c.3588C>A (p.Phe1196Leu)
c.3255C>A (p.Phe1085Leu)
 gnomAD v4
7g.117627551C=CA1737398618CFTRc.3498C= (p.Phe1166=)
c.*3212C= (n.*3212C=)
c.3315C= (p.Phe1105=)
c.*151C= (n.*151C=)
c.*159C= (n.*159C=)
c.*1873C= (n.*1873C=)
c.3492C= (p.Phe1164=)
c.*3322C= (n.*3322C=)
c.3072C= (p.Phe1024=)
c.246C= (p.Phe82=)
c.1285C= (n.1285C=)
c.80C=
c.1148C=
c.2280C= (p.Phe760=)
c.3408C= (p.Phe1136=)
c.323C=
c.3588C= (p.Phe1196=)
c.3255C= (p.Phe1085=)
7g.117627551C>GCA368996092CFTRc.3498C>G (p.Phe1166Leu)
c.*3212C>G (n.*3212C>G)
c.3315C>G (p.Phe1105Leu)
c.*151C>G (n.*151C>G)
c.*159C>G (n.*159C>G)
c.*1873C>G (n.*1873C>G)
c.3492C>G (p.Phe1164Leu)
c.*3322C>G (n.*3322C>G)
c.3072C>G (p.Phe1024Leu)
c.246C>G (p.Phe82Leu)
c.1285C>G (n.1285C>G)
c.80C>G
c.1148C>G
c.2280C>G (p.Phe760Leu)
c.3408C>G (p.Phe1136Leu)
c.323C>G
c.3588C>G (p.Phe1196Leu)
c.3255C>G (p.Phe1085Leu)
 ClinVar dbSNP
7g.117627551C>TCA457231172CFTRc.3498C>T (p.Phe1166=)
c.*3212C>T (n.*3212C>T)
c.3315C>T (p.Phe1105=)
c.*151C>T (n.*151C>T)
c.*159C>T (n.*159C>T)
c.*1873C>T (n.*1873C>T)
c.3492C>T (p.Phe1164=)
c.*3322C>T (n.*3322C>T)
c.3072C>T (p.Phe1024=)
c.246C>T (p.Phe82=)
c.1285C>T (n.1285C>T)
c.80C>T
c.1148C>T
c.2280C>T (p.Phe760=)
c.3408C>T (p.Phe1136=)
c.323C>T
c.3588C>T (p.Phe1196=)
c.3255C>T (p.Phe1085=)
7g.117627552A=CA1737398619CFTRc.3499A= (p.Ile1167=)
c.*3213A= (n.*3213A=)
c.3316A= (p.Ile1106=)
c.*152A= (n.*152A=)
c.*160A= (n.*160A=)
c.*1874A= (n.*1874A=)
c.3493A= (p.Ile1165=)
c.*3323A= (n.*3323A=)
c.3073A= (p.Ile1025=)
c.247A= (p.Ile83=)
c.1286A= (n.1286A=)
c.81A=
c.1149A=
c.2281A= (p.Ile761=)
c.3409A= (p.Ile1137=)
c.324A=
c.3589A= (p.Ile1197=)
c.3256A= (p.Ile1086=)
7g.117627552A>CCA368996096CFTRc.3499A>C (p.Ile1167Leu)
c.*3213A>C (n.*3213A>C)
c.3316A>C (p.Ile1106Leu)
c.*152A>C (n.*152A>C)
c.*160A>C (n.*160A>C)
c.*1874A>C (n.*1874A>C)
c.3493A>C (p.Ile1165Leu)
c.*3323A>C (n.*3323A>C)
c.3073A>C (p.Ile1025Leu)
c.247A>C (p.Ile83Leu)
c.1286A>C (n.1286A>C)
c.81A>C
c.1149A>C
c.2281A>C (p.Ile761Leu)
c.3409A>C (p.Ile1137Leu)
c.324A>C
c.3589A>C (p.Ile1197Leu)
c.3256A>C (p.Ile1086Leu)
7g.117627552A>GCA368996097CFTRc.3499A>G (p.Ile1167Val)
c.*3213A>G (n.*3213A>G)
c.3316A>G (p.Ile1106Val)
c.*152A>G (n.*152A>G)
c.*160A>G (n.*160A>G)
c.*1874A>G (n.*1874A>G)
c.3493A>G (p.Ile1165Val)
c.*3323A>G (n.*3323A>G)
c.3073A>G (p.Ile1025Val)
c.247A>G (p.Ile83Val)
c.1286A>G (n.1286A>G)
c.81A>G
c.1149A>G
c.2281A>G (p.Ile761Val)
c.3409A>G (p.Ile1137Val)
c.324A>G
c.3589A>G (p.Ile1197Val)
c.3256A>G (p.Ile1086Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117627552A>TCA368996100CFTRc.3499A>T (p.Ile1167Phe)
c.*3213A>T (n.*3213A>T)
c.3316A>T (p.Ile1106Phe)
c.*152A>T (n.*152A>T)
c.*160A>T (n.*160A>T)
c.*1874A>T (n.*1874A>T)
c.3493A>T (p.Ile1165Phe)
c.*3323A>T (n.*3323A>T)
c.3073A>T (p.Ile1025Phe)
c.247A>T (p.Ile83Phe)
c.1286A>T (n.1286A>T)
c.81A>T
c.1149A>T
c.2281A>T (p.Ile761Phe)
c.3409A>T (p.Ile1137Phe)
c.324A>T
c.3589A>T (p.Ile1197Phe)
c.3256A>T (p.Ile1086Phe)
7g.117627553T>ACA368996103CFTRc.3500T>A (p.Ile1167Asn)
c.*3214T>A (n.*3214T>A)
c.3317T>A (p.Ile1106Asn)
c.*153T>A (n.*153T>A)
c.*161T>A (n.*161T>A)
c.*1875T>A (n.*1875T>A)
c.3494T>A (p.Ile1165Asn)
c.*3324T>A (n.*3324T>A)
c.3074T>A (p.Ile1025Asn)
c.248T>A (p.Ile83Asn)
c.1287T>A (n.1287T>A)
c.82T>A
c.1150T>A
c.2282T>A (p.Ile761Asn)
c.3410T>A (p.Ile1137Asn)
c.325T>A
c.3590T>A (p.Ile1197Asn)
c.3257T>A (p.Ile1086Asn)
 ClinVar dbSNP
7g.117627553T>CCA368996106CFTRc.3500T>C (p.Ile1167Thr)
c.*3214T>C (n.*3214T>C)
c.3317T>C (p.Ile1106Thr)
c.*153T>C (n.*153T>C)
c.*161T>C (n.*161T>C)
c.*1875T>C (n.*1875T>C)
c.3494T>C (p.Ile1165Thr)
c.*3324T>C (n.*3324T>C)
c.3074T>C (p.Ile1025Thr)
c.248T>C (p.Ile83Thr)
c.1287T>C (n.1287T>C)
c.82T>C
c.1150T>C
c.2282T>C (p.Ile761Thr)
c.3410T>C (p.Ile1137Thr)
c.325T>C
c.3590T>C (p.Ile1197Thr)
c.3257T>C (p.Ile1086Thr)
7g.117627553T>GCA368996108CFTRc.3500T>G (p.Ile1167Ser)
c.*3214T>G (n.*3214T>G)
c.3317T>G (p.Ile1106Ser)
c.*153T>G (n.*153T>G)
c.*161T>G (n.*161T>G)
c.*1875T>G (n.*1875T>G)
c.3494T>G (p.Ile1165Ser)
c.*3324T>G (n.*3324T>G)
c.3074T>G (p.Ile1025Ser)
c.248T>G (p.Ile83Ser)
c.1287T>G (n.1287T>G)
c.82T>G
c.1150T>G
c.2282T>G (p.Ile761Ser)
c.3410T>G (p.Ile1137Ser)
c.325T>G
c.3590T>G (p.Ile1197Ser)
c.3257T>G (p.Ile1086Ser)
7g.117627554T>ACA457231176CFTRc.3501T>A (p.Ile1167=)
c.*3215T>A (n.*3215T>A)
c.3318T>A (p.Ile1106=)
c.*154T>A (n.*154T>A)
c.*162T>A (n.*162T>A)
c.*1876T>A (n.*1876T>A)
c.3495T>A (p.Ile1165=)
c.*3325T>A (n.*3325T>A)
c.3075T>A (p.Ile1025=)
c.249T>A (p.Ile83=)
c.1288T>A (n.1288T>A)
c.83T>A
c.1151T>A
c.2283T>A (p.Ile761=)
c.3411T>A (p.Ile1137=)
c.326T>A
c.3591T>A (p.Ile1197=)
c.3258T>A (p.Ile1086=)
7g.117627554T>CCA457231177CFTRc.3501T>C (p.Ile1167=)
c.*3215T>C (n.*3215T>C)
c.3318T>C (p.Ile1106=)
c.*154T>C (n.*154T>C)
c.*162T>C (n.*162T>C)
c.*1876T>C (n.*1876T>C)
c.3495T>C (p.Ile1165=)
c.*3325T>C (n.*3325T>C)
c.3075T>C (p.Ile1025=)
c.249T>C (p.Ile83=)
c.1288T>C (n.1288T>C)
c.83T>C
c.1151T>C
c.2283T>C (p.Ile761=)
c.3411T>C (p.Ile1137=)
c.326T>C
c.3591T>C (p.Ile1197=)
c.3258T>C (p.Ile1086=)
7g.117627554T>GCA368996111CFTRc.3501T>G (p.Ile1167Met)
c.*3215T>G (n.*3215T>G)
c.3318T>G (p.Ile1106Met)
c.*154T>G (n.*154T>G)
c.*162T>G (n.*162T>G)
c.*1876T>G (n.*1876T>G)
c.3495T>G (p.Ile1165Met)
c.*3325T>G (n.*3325T>G)
c.3075T>G (p.Ile1025Met)
c.249T>G (p.Ile83Met)
c.1288T>G (n.1288T>G)
c.83T>G
c.1151T>G
c.2283T>G (p.Ile761Met)
c.3411T>G (p.Ile1137Met)
c.326T>G
c.3591T>G (p.Ile1197Met)
c.3258T>G (p.Ile1086Met)
7g.117627555G>ACA368996114CFTRc.3502G>A (p.Asp1168Asn)
c.*3216G>A (n.*3216G>A)
c.3319G>A (p.Asp1107Asn)
c.*155G>A (n.*155G>A)
c.*163G>A (n.*163G>A)
c.*1877G>A (n.*1877G>A)
c.3496G>A (p.Asp1166Asn)
c.*3326G>A (n.*3326G>A)
c.3076G>A (p.Asp1026Asn)
c.250G>A (p.Asp84Asn)
c.1289G>A (n.1289G>A)
c.84G>A
c.1152G>A
c.2284G>A (p.Asp762Asn)
c.3412G>A (p.Asp1138Asn)
c.327G>A
c.3592G>A (p.Asp1198Asn)
c.3259G>A (p.Asp1087Asn)
7g.117627555G>CCA368996116CFTRc.3502G>C (p.Asp1168His)
c.*3216G>C (n.*3216G>C)
c.3319G>C (p.Asp1107His)
c.*155G>C (n.*155G>C)
c.*163G>C (n.*163G>C)
c.*1877G>C (n.*1877G>C)
c.3496G>C (p.Asp1166His)
c.*3326G>C (n.*3326G>C)
c.3076G>C (p.Asp1026His)
c.250G>C (p.Asp84His)
c.1289G>C (n.1289G>C)
c.84G>C
c.1152G>C
c.2284G>C (p.Asp762His)
c.3412G>C (p.Asp1138His)
c.327G>C
c.3592G>C (p.Asp1198His)
c.3259G>C (p.Asp1087His)
7g.117627555G>TCA368996119CFTRc.3502G>T (p.Asp1168Tyr)
c.*3216G>T (n.*3216G>T)
c.3319G>T (p.Asp1107Tyr)
c.*155G>T (n.*155G>T)
c.*163G>T (n.*163G>T)
c.*1877G>T (n.*1877G>T)
c.3496G>T (p.Asp1166Tyr)
c.*3326G>T (n.*3326G>T)
c.3076G>T (p.Asp1026Tyr)
c.250G>T (p.Asp84Tyr)
c.1289G>T (n.1289G>T)
c.84G>T
c.1152G>T
c.2284G>T (p.Asp762Tyr)
c.3412G>T (p.Asp1138Tyr)
c.327G>T
c.3592G>T (p.Asp1198Tyr)
c.3259G>T (p.Asp1087Tyr)
 gnomAD v4
7g.117627556A=CA1737398620CFTRc.3503A= (p.Asp1168=)
c.*3217A= (n.*3217A=)
c.3320A= (p.Asp1107=)
c.*156A= (n.*156A=)
c.*164A= (n.*164A=)
c.*1878A= (n.*1878A=)
c.3497A= (p.Asp1166=)
c.*3327A= (n.*3327A=)
c.3077A= (p.Asp1026=)
c.251A= (p.Asp84=)
c.1290A= (n.1290A=)
c.85A=
c.1153A=
c.2285A= (p.Asp762=)
c.3413A= (p.Asp1138=)
c.328A=
c.3593A= (p.Asp1198=)
c.3260A= (p.Asp1087=)
7g.117627556A>CCA368996125CFTRc.3503A>C (p.Asp1168Ala)
c.*3217A>C (n.*3217A>C)
c.3320A>C (p.Asp1107Ala)
c.*156A>C (n.*156A>C)
c.*164A>C (n.*164A>C)
c.*1878A>C (n.*1878A>C)
c.3497A>C (p.Asp1166Ala)
c.*3327A>C (n.*3327A>C)
c.3077A>C (p.Asp1026Ala)
c.251A>C (p.Asp84Ala)
c.1290A>C (n.1290A>C)
c.85A>C
c.1153A>C
c.2285A>C (p.Asp762Ala)
c.3413A>C (p.Asp1138Ala)
c.328A>C
c.3593A>C (p.Asp1198Ala)
c.3260A>C (p.Asp1087Ala)
 gnomAD v4
7g.117627556A>GCA327219CFTRc.3503A>G (p.Asp1168Gly)
c.*3217A>G (n.*3217A>G)
c.3320A>G (p.Asp1107Gly)
c.*156A>G (n.*156A>G)
c.*164A>G (n.*164A>G)
c.*1878A>G (n.*1878A>G)
c.3497A>G (p.Asp1166Gly)
c.*3327A>G (n.*3327A>G)
c.3077A>G (p.Asp1026Gly)
c.251A>G (p.Asp84Gly)
c.1290A>G (n.1290A>G)
c.85A>G
c.1153A>G
c.2285A>G (p.Asp762Gly)
c.3413A>G (p.Asp1138Gly)
c.328A>G
c.3593A>G (p.Asp1198Gly)
c.3260A>G (p.Asp1087Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117627556A>TCA368996121CFTRc.3503A>T (p.Asp1168Val)
c.*3217A>T (n.*3217A>T)
c.3320A>T (p.Asp1107Val)
c.*156A>T (n.*156A>T)
c.*164A>T (n.*164A>T)
c.*1878A>T (n.*1878A>T)
c.3497A>T (p.Asp1166Val)
c.*3327A>T (n.*3327A>T)
c.3077A>T (p.Asp1026Val)
c.251A>T (p.Asp84Val)
c.1290A>T (n.1290A>T)
c.85A>T
c.1153A>T
c.2285A>T (p.Asp762Val)
c.3413A>T (p.Asp1138Val)
c.328A>T
c.3593A>T (p.Asp1198Val)
c.3260A>T (p.Asp1087Val)
7g.117627557C>ACA368996128CFTRc.3504C>A (p.Asp1168Glu)
c.*3218C>A (n.*3218C>A)
c.3321C>A (p.Asp1107Glu)
c.*157C>A (n.*157C>A)
c.*165C>A (n.*165C>A)
c.*1879C>A (n.*1879C>A)
c.3498C>A (p.Asp1166Glu)
c.*3328C>A (n.*3328C>A)
c.3078C>A (p.Asp1026Glu)
c.252C>A (p.Asp84Glu)
c.1291C>A (n.1291C>A)
c.86C>A
c.1154C>A
c.2286C>A (p.Asp762Glu)
c.3414C>A (p.Asp1138Glu)
c.329C>A
c.3594C>A (p.Asp1198Glu)
c.3261C>A (p.Asp1087Glu)
7g.117627557C>GCA368996131CFTRc.3504C>G (p.Asp1168Glu)
c.*3218C>G (n.*3218C>G)
c.3321C>G (p.Asp1107Glu)
c.*157C>G (n.*157C>G)
c.*165C>G (n.*165C>G)
c.*1879C>G (n.*1879C>G)
c.3498C>G (p.Asp1166Glu)
c.*3328C>G (n.*3328C>G)
c.3078C>G (p.Asp1026Glu)
c.252C>G (p.Asp84Glu)
c.1291C>G (n.1291C>G)
c.86C>G
c.1154C>G
c.2286C>G (p.Asp762Glu)
c.3414C>G (p.Asp1138Glu)
c.329C>G
c.3594C>G (p.Asp1198Glu)
c.3261C>G (p.Asp1087Glu)
7g.117627557C>TCA457231179CFTRc.3504C>T (p.Asp1168=)
c.*3218C>T (n.*3218C>T)
c.3321C>T (p.Asp1107=)
c.*157C>T (n.*157C>T)
c.*165C>T (n.*165C>T)
c.*1879C>T (n.*1879C>T)
c.3498C>T (p.Asp1166=)
c.*3328C>T (n.*3328C>T)
c.3078C>T (p.Asp1026=)
c.252C>T (p.Asp84=)
c.1291C>T (n.1291C>T)
c.86C>T
c.1154C>T
c.2286C>T (p.Asp762=)
c.3414C>T (p.Asp1138=)
c.329C>T
c.3594C>T (p.Asp1198=)
c.3261C>T (p.Asp1087=)
 ClinVar
7g.117627558A=CA1737398621CFTRc.3505A= (p.Met1169=)
c.*3219A= (n.*3219A=)
c.3322A= (p.Met1108=)
c.*158A= (n.*158A=)
c.*166A= (n.*166A=)
c.*1880A= (n.*1880A=)
c.3499A= (p.Met1167=)
c.*3329A= (n.*3329A=)
c.3079A= (p.Met1027=)
c.253A= (p.Met85=)
c.1292A= (n.1292A=)
c.87A=
c.1155A=
c.2287A= (p.Met763=)
c.3415A= (p.Met1139=)
c.330A=
c.3595A= (p.Met1199=)
c.3262A= (p.Met1088=)
7g.117627558A>CCA368996133CFTRc.3505A>C (p.Met1169Leu)
c.*3219A>C (n.*3219A>C)
c.3322A>C (p.Met1108Leu)
c.*158A>C (n.*158A>C)
c.*166A>C (n.*166A>C)
c.*1880A>C (n.*1880A>C)
c.3499A>C (p.Met1167Leu)
c.*3329A>C (n.*3329A>C)
c.3079A>C (p.Met1027Leu)
c.253A>C (p.Met85Leu)
c.1292A>C (n.1292A>C)
c.87A>C
c.1155A>C
c.2287A>C (p.Met763Leu)
c.3415A>C (p.Met1139Leu)
c.330A>C
c.3595A>C (p.Met1199Leu)
c.3262A>C (p.Met1088Leu)
7g.117627558A>GCA368996135CFTRc.3505A>G (p.Met1169Val)
c.*3219A>G (n.*3219A>G)
c.3322A>G (p.Met1108Val)
c.*158A>G (n.*158A>G)
c.*166A>G (n.*166A>G)
c.*1880A>G (n.*1880A>G)
c.3499A>G (p.Met1167Val)
c.*3329A>G (n.*3329A>G)
c.3079A>G (p.Met1027Val)
c.253A>G (p.Met85Val)
c.1292A>G (n.1292A>G)
c.87A>G
c.1155A>G
c.2287A>G (p.Met763Val)
c.3415A>G (p.Met1139Val)
c.330A>G
c.3595A>G (p.Met1199Val)
c.3262A>G (p.Met1088Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117627558A>TCA368996143CFTRc.3505A>T (p.Met1169Leu)
c.*3219A>T (n.*3219A>T)
c.3322A>T (p.Met1108Leu)
c.*158A>T (n.*158A>T)
c.*166A>T (n.*166A>T)
c.*1880A>T (n.*1880A>T)
c.3499A>T (p.Met1167Leu)
c.*3329A>T (n.*3329A>T)
c.3079A>T (p.Met1027Leu)
c.253A>T (p.Met85Leu)
c.1292A>T (n.1292A>T)
c.87A>T
c.1155A>T
c.2287A>T (p.Met763Leu)
c.3415A>T (p.Met1139Leu)
c.330A>T
c.3595A>T (p.Met1199Leu)
c.3262A>T (p.Met1088Leu)
 gnomAD v4
7g.117627559T>ACA368996151CFTRc.3506T>A (p.Met1169Lys)
c.*3220T>A (n.*3220T>A)
c.3323T>A (p.Met1108Lys)
c.*159T>A (n.*159T>A)
c.*167T>A (n.*167T>A)
c.*1881T>A (n.*1881T>A)
c.3500T>A (p.Met1167Lys)
c.*3330T>A (n.*3330T>A)
c.3080T>A (p.Met1027Lys)
c.254T>A (p.Met85Lys)
c.1293T>A (n.1293T>A)
c.88T>A
c.1156T>A
c.2288T>A (p.Met763Lys)
c.3416T>A (p.Met1139Lys)
c.331T>A
c.3596T>A (p.Met1199Lys)
c.3263T>A (p.Met1088Lys)
7g.117627559T>CCA368996150CFTRc.3506T>C (p.Met1169Thr)
c.*3220T>C (n.*3220T>C)
c.3323T>C (p.Met1108Thr)
c.*159T>C (n.*159T>C)
c.*167T>C (n.*167T>C)
c.*1881T>C (n.*1881T>C)
c.3500T>C (p.Met1167Thr)
c.*3330T>C (n.*3330T>C)
c.3080T>C (p.Met1027Thr)
c.254T>C (p.Met85Thr)
c.1293T>C (n.1293T>C)
c.88T>C
c.1156T>C
c.2288T>C (p.Met763Thr)
c.3416T>C (p.Met1139Thr)
c.331T>C
c.3596T>C (p.Met1199Thr)
c.3263T>C (p.Met1088Thr)
7g.117627559T>GCA368996147CFTRc.3506T>G (p.Met1169Arg)
c.*3220T>G (n.*3220T>G)
c.3323T>G (p.Met1108Arg)
c.*159T>G (n.*159T>G)
c.*167T>G (n.*167T>G)
c.*1881T>G (n.*1881T>G)
c.3500T>G (p.Met1167Arg)
c.*3330T>G (n.*3330T>G)
c.3080T>G (p.Met1027Arg)
c.254T>G (p.Met85Arg)
c.1293T>G (n.1293T>G)
c.88T>G
c.1156T>G
c.2288T>G (p.Met763Arg)
c.3416T>G (p.Met1139Arg)
c.331T>G
c.3596T>G (p.Met1199Arg)
c.3263T>G (p.Met1088Arg)
 dbSNP gnomAD v2
7g.117627559T=CA1737398622CFTRc.3506T= (p.Met1169=)
c.*3220T= (n.*3220T=)
c.3323T= (p.Met1108=)
c.*159T= (n.*159T=)
c.*167T= (n.*167T=)
c.*1881T= (n.*1881T=)
c.3500T= (p.Met1167=)
c.*3330T= (n.*3330T=)
c.3080T= (p.Met1027=)
c.254T= (p.Met85=)
c.1293T= (n.1293T=)
c.88T=
c.1156T=
c.2288T= (p.Met763=)
c.3416T= (p.Met1139=)
c.331T=
c.3596T= (p.Met1199=)
c.3263T= (p.Met1088=)
7g.117627560G>ACA368996155CFTRc.3507G>A (p.Met1169Ile)
c.*3221G>A (n.*3221G>A)
c.3324G>A (p.Met1108Ile)
c.*160G>A (n.*160G>A)
c.*168G>A (n.*168G>A)
c.*1882G>A (n.*1882G>A)
c.3501G>A (p.Met1167Ile)
c.*3331G>A (n.*3331G>A)
c.3081G>A (p.Met1027Ile)
c.255G>A (p.Met85Ile)
c.1294G>A (n.1294G>A)
c.89G>A
c.1157G>A
c.2289G>A (p.Met763Ile)
c.3417G>A (p.Met1139Ile)
c.332G>A
c.3597G>A (p.Met1199Ile)
c.3264G>A (p.Met1088Ile)
7g.117627560G>CCA368996157CFTRc.3507G>C (p.Met1169Ile)
c.*3221G>C (n.*3221G>C)
c.3324G>C (p.Met1108Ile)
c.*160G>C (n.*160G>C)
c.*168G>C (n.*168G>C)
c.*1882G>C (n.*1882G>C)
c.3501G>C (p.Met1167Ile)
c.*3331G>C (n.*3331G>C)
c.3081G>C (p.Met1027Ile)
c.255G>C (p.Met85Ile)
c.1294G>C (n.1294G>C)
c.89G>C
c.1157G>C
c.2289G>C (p.Met763Ile)
c.3417G>C (p.Met1139Ile)
c.332G>C
c.3597G>C (p.Met1199Ile)
c.3264G>C (p.Met1088Ile)
7g.117627560G>TCA368996159CFTRc.3507G>T (p.Met1169Ile)
c.*3221G>T (n.*3221G>T)
c.3324G>T (p.Met1108Ile)
c.*160G>T (n.*160G>T)
c.*168G>T (n.*168G>T)
c.*1882G>T (n.*1882G>T)
c.3501G>T (p.Met1167Ile)
c.*3331G>T (n.*3331G>T)
c.3081G>T (p.Met1027Ile)
c.255G>T (p.Met85Ile)
c.1294G>T (n.1294G>T)
c.89G>T
c.1157G>T
c.2289G>T (p.Met763Ile)
c.3417G>T (p.Met1139Ile)
c.332G>T
c.3597G>T (p.Met1199Ile)
c.3264G>T (p.Met1088Ile)
 gnomAD v4
7g.117627561C>ACA368996164CFTRc.3508C>A (p.Pro1170Thr)
c.*3222C>A (n.*3222C>A)
c.3325C>A (p.Pro1109Thr)
c.*161C>A (n.*161C>A)
c.*169C>A (n.*169C>A)
c.*1883C>A (n.*1883C>A)
c.3502C>A (p.Pro1168Thr)
c.*3332C>A (n.*3332C>A)
c.3082C>A (p.Pro1028Thr)
c.256C>A (p.Pro86Thr)
c.1295C>A (n.1295C>A)
c.90C>A
c.1158C>A
c.2290C>A (p.Pro764Thr)
c.3418C>A (p.Pro1140Thr)
c.333C>A
c.3598C>A (p.Pro1200Thr)
c.3265C>A (p.Pro1089Thr)
 gnomAD v4
7g.117627561C=CA1737398623CFTRc.3508C= (p.Pro1170=)
c.*3222C= (n.*3222C=)
c.3325C= (p.Pro1109=)
c.*161C= (n.*161C=)
c.*169C= (n.*169C=)
c.*1883C= (n.*1883C=)
c.3502C= (p.Pro1168=)
c.*3332C= (n.*3332C=)
c.3082C= (p.Pro1028=)
c.256C= (p.Pro86=)
c.1295C= (n.1295C=)
c.90C=
c.1158C=
c.2290C= (p.Pro764=)
c.3418C= (p.Pro1140=)
c.333C=
c.3598C= (p.Pro1200=)
c.3265C= (p.Pro1089=)
7g.117627561C>GCA368996167CFTRc.3508C>G (p.Pro1170Ala)
c.*3222C>G (n.*3222C>G)
c.3325C>G (p.Pro1109Ala)
c.*161C>G (n.*161C>G)
c.*169C>G (n.*169C>G)
c.*1883C>G (n.*1883C>G)
c.3502C>G (p.Pro1168Ala)
c.*3332C>G (n.*3332C>G)
c.3082C>G (p.Pro1028Ala)
c.256C>G (p.Pro86Ala)
c.1295C>G (n.1295C>G)
c.90C>G
c.1158C>G
c.2290C>G (p.Pro764Ala)
c.3418C>G (p.Pro1140Ala)
c.333C>G
c.3598C>G (p.Pro1200Ala)
c.3265C>G (p.Pro1089Ala)
7g.117627561C>TCA368996169CFTRc.3508C>T (p.Pro1170Ser)
c.*3222C>T (n.*3222C>T)
c.3325C>T (p.Pro1109Ser)
c.*161C>T (n.*161C>T)
c.*169C>T (n.*169C>T)
c.*1883C>T (n.*1883C>T)
c.3502C>T (p.Pro1168Ser)
c.*3332C>T (n.*3332C>T)
c.3082C>T (p.Pro1028Ser)
c.256C>T (p.Pro86Ser)
c.1295C>T (n.1295C>T)
c.90C>T
c.1158C>T
c.2290C>T (p.Pro764Ser)
c.3418C>T (p.Pro1140Ser)
c.333C>T
c.3598C>T (p.Pro1200Ser)
c.3265C>T (p.Pro1089Ser)
 ClinVar dbSNP gnomAD v4
7g.117627562C>ACA368996173CFTRc.3509C>A (p.Pro1170Gln)
c.*3223C>A (n.*3223C>A)
c.3326C>A (p.Pro1109Gln)
c.*162C>A (n.*162C>A)
c.*170C>A (n.*170C>A)
c.*1884C>A (n.*1884C>A)
c.3503C>A (p.Pro1168Gln)
c.*3333C>A (n.*3333C>A)
c.3083C>A (p.Pro1028Gln)
c.257C>A (p.Pro86Gln)
c.1296C>A (n.1296C>A)
c.91C>A
c.1159C>A
c.2291C>A (p.Pro764Gln)
c.3419C>A (p.Pro1140Gln)
c.334C>A
c.3599C>A (p.Pro1200Gln)
c.3266C>A (p.Pro1089Gln)
7g.117627562C=CA1737398624CFTRc.3509C= (p.Pro1170=)
c.*3223C= (n.*3223C=)
c.3326C= (p.Pro1109=)
c.*162C= (n.*162C=)
c.*170C= (n.*170C=)
c.*1884C= (n.*1884C=)
c.3503C= (p.Pro1168=)
c.*3333C= (n.*3333C=)
c.3083C= (p.Pro1028=)
c.257C= (p.Pro86=)
c.1296C= (n.1296C=)
c.91C=
c.1159C=
c.2291C= (p.Pro764=)
c.3419C= (p.Pro1140=)
c.334C=
c.3599C= (p.Pro1200=)
c.3266C= (p.Pro1089=)
7g.117627562C>GCA368996177CFTRc.3509C>G (p.Pro1170Arg)
c.*3223C>G (n.*3223C>G)
c.3326C>G (p.Pro1109Arg)
c.*162C>G (n.*162C>G)
c.*170C>G (n.*170C>G)
c.*1884C>G (n.*1884C>G)
c.3503C>G (p.Pro1168Arg)
c.*3333C>G (n.*3333C>G)
c.3083C>G (p.Pro1028Arg)
c.257C>G (p.Pro86Arg)
c.1296C>G (n.1296C>G)
c.91C>G
c.1159C>G
c.2291C>G (p.Pro764Arg)
c.3419C>G (p.Pro1140Arg)
c.334C>G
c.3599C>G (p.Pro1200Arg)
c.3266C>G (p.Pro1089Arg)
 dbSNP
7g.117627562C>TCA368996175CFTRc.3509C>T (p.Pro1170Leu)
c.*3223C>T (n.*3223C>T)
c.3326C>T (p.Pro1109Leu)
c.*162C>T (n.*162C>T)
c.*170C>T (n.*170C>T)
c.*1884C>T (n.*1884C>T)
c.3503C>T (p.Pro1168Leu)
c.*3333C>T (n.*3333C>T)
c.3083C>T (p.Pro1028Leu)
c.257C>T (p.Pro86Leu)
c.1296C>T (n.1296C>T)
c.91C>T
c.1159C>T
c.2291C>T (p.Pro764Leu)
c.3419C>T (p.Pro1140Leu)
c.334C>T
c.3599C>T (p.Pro1200Leu)
c.3266C>T (p.Pro1089Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.117627563A>CCA457231183CFTRc.3510A>C (p.Pro1170=)
c.*3224A>C (n.*3224A>C)
c.3327A>C (p.Pro1109=)
c.*163A>C (n.*163A>C)
c.*171A>C (n.*171A>C)
c.*1885A>C (n.*1885A>C)
c.3504A>C (p.Pro1168=)
c.*3334A>C (n.*3334A>C)
c.3084A>C (p.Pro1028=)
c.258A>C (p.Pro86=)
c.1297A>C (n.1297A>C)
c.92A>C
c.1160A>C
c.2292A>C (p.Pro764=)
c.3420A>C (p.Pro1140=)
c.335A>C
c.3600A>C (p.Pro1200=)
c.3267A>C (p.Pro1089=)
7g.117627563A>GCA457231184CFTRc.3510A>G (p.Pro1170=)
c.*3224A>G (n.*3224A>G)
c.3327A>G (p.Pro1109=)
c.*163A>G (n.*163A>G)
c.*171A>G (n.*171A>G)
c.*1885A>G (n.*1885A>G)
c.3504A>G (p.Pro1168=)
c.*3334A>G (n.*3334A>G)
c.3084A>G (p.Pro1028=)
c.258A>G (p.Pro86=)
c.1297A>G (n.1297A>G)
c.92A>G
c.1160A>G
c.2292A>G (p.Pro764=)
c.3420A>G (p.Pro1140=)
c.335A>G
c.3600A>G (p.Pro1200=)
c.3267A>G (p.Pro1089=)
7g.117627563A>TCA457231185CFTRc.3510A>T (p.Pro1170=)
c.*3224A>T (n.*3224A>T)
c.3327A>T (p.Pro1109=)
c.*163A>T (n.*163A>T)
c.*171A>T (n.*171A>T)
c.*1885A>T (n.*1885A>T)
c.3504A>T (p.Pro1168=)
c.*3334A>T (n.*3334A>T)
c.3084A>T (p.Pro1028=)
c.258A>T (p.Pro86=)
c.1297A>T (n.1297A>T)
c.92A>T
c.1160A>T
c.2292A>T (p.Pro764=)
c.3420A>T (p.Pro1140=)
c.335A>T
c.3600A>T (p.Pro1200=)
c.3267A>T (p.Pro1089=)
7g.117627564A=CA1737398625CFTRc.3511A= (p.Thr1171=)
c.*3225A= (n.*3225A=)
c.3328A= (p.Thr1110=)
c.*164A= (n.*164A=)
c.*172A= (n.*172A=)
c.*1886A= (n.*1886A=)
c.3505A= (p.Thr1169=)
c.*3335A= (n.*3335A=)
c.3085A= (p.Thr1029=)
c.259A= (p.Thr87=)
c.1298A= (n.1298A=)
c.93A=
c.1161A=
c.2293A= (p.Thr765=)
c.3421A= (p.Thr1141=)
c.336A=
c.3601A= (p.Thr1201=)
c.3268A= (p.Thr1090=)
7g.117627564A>CCA368996180CFTRc.3511A>C (p.Thr1171Pro)
c.*3225A>C (n.*3225A>C)
c.3328A>C (p.Thr1110Pro)
c.*164A>C (n.*164A>C)
c.*172A>C (n.*172A>C)
c.*1886A>C (n.*1886A>C)
c.3505A>C (p.Thr1169Pro)
c.*3335A>C (n.*3335A>C)
c.3085A>C (p.Thr1029Pro)
c.259A>C (p.Thr87Pro)
c.1298A>C (n.1298A>C)
c.93A>C
c.1161A>C
c.2293A>C (p.Thr765Pro)
c.3421A>C (p.Thr1141Pro)
c.336A>C
c.3601A>C (p.Thr1201Pro)
c.3268A>C (p.Thr1090Pro)
 gnomAD v4
7g.117627564A>GCA4451488CFTRc.3511A>G (p.Thr1171Ala)
c.*3225A>G (n.*3225A>G)
c.3328A>G (p.Thr1110Ala)
c.*164A>G (n.*164A>G)
c.*172A>G (n.*172A>G)
c.*1886A>G (n.*1886A>G)
c.3505A>G (p.Thr1169Ala)
c.*3335A>G (n.*3335A>G)
c.3085A>G (p.Thr1029Ala)
c.259A>G (p.Thr87Ala)
c.1298A>G (n.1298A>G)
c.93A>G
c.1161A>G
c.2293A>G (p.Thr765Ala)
c.3421A>G (p.Thr1141Ala)
c.336A>G
c.3601A>G (p.Thr1201Ala)
c.3268A>G (p.Thr1090Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627564A>TCA368996184CFTRc.3511A>T (p.Thr1171Ser)
c.*3225A>T (n.*3225A>T)
c.3328A>T (p.Thr1110Ser)
c.*164A>T (n.*164A>T)
c.*172A>T (n.*172A>T)
c.*1886A>T (n.*1886A>T)
c.3505A>T (p.Thr1169Ser)
c.*3335A>T (n.*3335A>T)
c.3085A>T (p.Thr1029Ser)
c.259A>T (p.Thr87Ser)
c.1298A>T (n.1298A>T)
c.93A>T
c.1161A>T
c.2293A>T (p.Thr765Ser)
c.3421A>T (p.Thr1141Ser)
c.336A>T
c.3601A>T (p.Thr1201Ser)
c.3268A>T (p.Thr1090Ser)
7g.117627565C>ACA368996186CFTRc.3512C>A (p.Thr1171Lys)
c.*3226C>A (n.*3226C>A)
c.3329C>A (p.Thr1110Lys)
c.*165C>A (n.*165C>A)
c.*173C>A (n.*173C>A)
c.*1887C>A (n.*1887C>A)
c.3506C>A (p.Thr1169Lys)
c.*3336C>A (n.*3336C>A)
c.3086C>A (p.Thr1029Lys)
c.260C>A (p.Thr87Lys)
c.1299C>A (n.1299C>A)
c.94C>A
c.1162C>A
c.2294C>A (p.Thr765Lys)
c.3422C>A (p.Thr1141Lys)
c.337C>A
c.3602C>A (p.Thr1201Lys)
c.3269C>A (p.Thr1090Lys)
7g.117627565C>GCA368996188CFTRc.3512C>G (p.Thr1171Arg)
c.*3226C>G (n.*3226C>G)
c.3329C>G (p.Thr1110Arg)
c.*165C>G (n.*165C>G)
c.*173C>G (n.*173C>G)
c.*1887C>G (n.*1887C>G)
c.3506C>G (p.Thr1169Arg)
c.*3336C>G (n.*3336C>G)
c.3086C>G (p.Thr1029Arg)
c.260C>G (p.Thr87Arg)
c.1299C>G (n.1299C>G)
c.94C>G
c.1162C>G
c.2294C>G (p.Thr765Arg)
c.3422C>G (p.Thr1141Arg)
c.337C>G
c.3602C>G (p.Thr1201Arg)
c.3269C>G (p.Thr1090Arg)
7g.117627565C>TCA368996190CFTRc.3512C>T (p.Thr1171Ile)
c.*3226C>T (n.*3226C>T)
c.3329C>T (p.Thr1110Ile)
c.*165C>T (n.*165C>T)
c.*173C>T (n.*173C>T)
c.*1887C>T (n.*1887C>T)
c.3506C>T (p.Thr1169Ile)
c.*3336C>T (n.*3336C>T)
c.3086C>T (p.Thr1029Ile)
c.260C>T (p.Thr87Ile)
c.1299C>T (n.1299C>T)
c.94C>T
c.1162C>T
c.2294C>T (p.Thr765Ile)
c.3422C>T (p.Thr1141Ile)
c.337C>T
c.3602C>T (p.Thr1201Ile)
c.3269C>T (p.Thr1090Ile)
7g.117627566A>CCA457231186CFTRc.3513A>C (p.Thr1171=)
c.*3227A>C (n.*3227A>C)
c.3330A>C (p.Thr1110=)
c.*166A>C (n.*166A>C)
c.*174A>C (n.*174A>C)
c.*1888A>C (n.*1888A>C)
c.3507A>C (p.Thr1169=)
c.*3337A>C (n.*3337A>C)
c.3087A>C (p.Thr1029=)
c.261A>C (p.Thr87=)
c.1300A>C (n.1300A>C)
c.95A>C
c.1163A>C
c.2295A>C (p.Thr765=)
c.3423A>C (p.Thr1141=)
c.338A>C
c.3603A>C (p.Thr1201=)
c.3270A>C (p.Thr1090=)
 ClinVar
7g.117627566A>GCA457231187CFTRc.3513A>G (p.Thr1171=)
c.*3227A>G (n.*3227A>G)
c.3330A>G (p.Thr1110=)
c.*166A>G (n.*166A>G)
c.*174A>G (n.*174A>G)
c.*1888A>G (n.*1888A>G)
c.3507A>G (p.Thr1169=)
c.*3337A>G (n.*3337A>G)
c.3087A>G (p.Thr1029=)
c.261A>G (p.Thr87=)
c.1300A>G (n.1300A>G)
c.95A>G
c.1163A>G
c.2295A>G (p.Thr765=)
c.3423A>G (p.Thr1141=)
c.338A>G
c.3603A>G (p.Thr1201=)
c.3270A>G (p.Thr1090=)
 gnomAD v4
7g.117627566A>TCA457231188CFTRc.3513A>T (p.Thr1171=)
c.*3227A>T (n.*3227A>T)
c.3330A>T (p.Thr1110=)
c.*166A>T (n.*166A>T)
c.*174A>T (n.*174A>T)
c.*1888A>T (n.*1888A>T)
c.3507A>T (p.Thr1169=)
c.*3337A>T (n.*3337A>T)
c.3087A>T (p.Thr1029=)
c.261A>T (p.Thr87=)
c.1300A>T (n.1300A>T)
c.95A>T
c.1163A>T
c.2295A>T (p.Thr765=)
c.3423A>T (p.Thr1141=)
c.338A>T
c.3603A>T (p.Thr1201=)
c.3270A>T (p.Thr1090=)
7g.117627567G>ACA368996192CFTRc.3514G>A (p.Glu1172Lys)
c.*3228G>A (n.*3228G>A)
c.3331G>A (p.Glu1111Lys)
c.*167G>A (n.*167G>A)
c.*175G>A (n.*175G>A)
c.*1889G>A (n.*1889G>A)
c.3508G>A (p.Glu1170Lys)
c.*3338G>A (n.*3338G>A)
c.3088G>A (p.Glu1030Lys)
c.262G>A (p.Glu88Lys)
c.1301G>A (n.1301G>A)
c.96G>A
c.1164G>A
c.2296G>A (p.Glu766Lys)
c.3424G>A (p.Glu1142Lys)
c.339G>A
c.3604G>A (p.Glu1202Lys)
c.3271G>A (p.Glu1091Lys)
 COSMIC
7g.117627567G>CCA368996194CFTRc.3514G>C (p.Glu1172Gln)
c.*3228G>C (n.*3228G>C)
c.3331G>C (p.Glu1111Gln)
c.*167G>C (n.*167G>C)
c.*175G>C (n.*175G>C)
c.*1889G>C (n.*1889G>C)
c.3508G>C (p.Glu1170Gln)
c.*3338G>C (n.*3338G>C)
c.3088G>C (p.Glu1030Gln)
c.262G>C (p.Glu88Gln)
c.1301G>C (n.1301G>C)
c.96G>C
c.1164G>C
c.2296G>C (p.Glu766Gln)
c.3424G>C (p.Glu1142Gln)
c.339G>C
c.3604G>C (p.Glu1202Gln)
c.3271G>C (p.Glu1091Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117627567G=CA1737398626CFTRc.3514G= (p.Glu1172=)
c.*3228G= (n.*3228G=)
c.3331G= (p.Glu1111=)
c.*167G= (n.*167G=)
c.*175G= (n.*175G=)
c.*1889G= (n.*1889G=)
c.3508G= (p.Glu1170=)
c.*3338G= (n.*3338G=)
c.3088G= (p.Glu1030=)
c.262G= (p.Glu88=)
c.1301G= (n.1301G=)
c.96G=
c.1164G=
c.2296G= (p.Glu766=)
c.3424G= (p.Glu1142=)
c.339G=
c.3604G= (p.Glu1202=)
c.3271G= (p.Glu1091=)
7g.117627567G>TCA368996196CFTRc.3514G>T (p.Glu1172Ter)
c.*3228G>T (n.*3228G>T)
c.3331G>T (p.Glu1111Ter)
c.*167G>T (n.*167G>T)
c.*175G>T (n.*175G>T)
c.*1889G>T (n.*1889G>T)
c.3508G>T (p.Glu1170Ter)
c.*3338G>T (n.*3338G>T)
c.3088G>T (p.Glu1030Ter)
c.262G>T (p.Glu88Ter)
c.1301G>T (n.1301G>T)
c.96G>T
c.1164G>T
c.2296G>T (p.Glu766Ter)
c.3424G>T (p.Glu1142Ter)
c.339G>T
c.3604G>T (p.Glu1202Ter)
c.3271G>T (p.Glu1091Ter)
7g.117627568A>CCA368996197CFTRc.3515A>C (p.Glu1172Ala)
c.*3229A>C (n.*3229A>C)
c.3332A>C (p.Glu1111Ala)
c.*168A>C (n.*168A>C)
c.*176A>C (n.*176A>C)
c.*1890A>C (n.*1890A>C)
c.3509A>C (p.Glu1170Ala)
c.*3339A>C (n.*3339A>C)
c.3089A>C (p.Glu1030Ala)
c.263A>C (p.Glu88Ala)
c.1302A>C (n.1302A>C)
c.97A>C
c.1165A>C
c.2297A>C (p.Glu766Ala)
c.3425A>C (p.Glu1142Ala)
c.340A>C
c.3605A>C (p.Glu1202Ala)
c.3272A>C (p.Glu1091Ala)
7g.117627568A>GCA368996198CFTRc.3515A>G (p.Glu1172Gly)
c.*3229A>G (n.*3229A>G)
c.3332A>G (p.Glu1111Gly)
c.*168A>G (n.*168A>G)
c.*176A>G (n.*176A>G)
c.*1890A>G (n.*1890A>G)
c.3509A>G (p.Glu1170Gly)
c.*3339A>G (n.*3339A>G)
c.3089A>G (p.Glu1030Gly)
c.263A>G (p.Glu88Gly)
c.1302A>G (n.1302A>G)
c.97A>G
c.1165A>G
c.2297A>G (p.Glu766Gly)
c.3425A>G (p.Glu1142Gly)
c.340A>G
c.3605A>G (p.Glu1202Gly)
c.3272A>G (p.Glu1091Gly)
7g.117627568A>TCA368996201CFTRc.3515A>T (p.Glu1172Val)
c.*3229A>T (n.*3229A>T)
c.3332A>T (p.Glu1111Val)
c.*168A>T (n.*168A>T)
c.*176A>T (n.*176A>T)
c.*1890A>T (n.*1890A>T)
c.3509A>T (p.Glu1170Val)
c.*3339A>T (n.*3339A>T)
c.3089A>T (p.Glu1030Val)
c.263A>T (p.Glu88Val)
c.1302A>T (n.1302A>T)
c.97A>T
c.1165A>T
c.2297A>T (p.Glu766Val)
c.3425A>T (p.Glu1142Val)
c.340A>T
c.3605A>T (p.Glu1202Val)
c.3272A>T (p.Glu1091Val)
7g.117627569A>CCA368996204CFTRc.3516A>C (p.Glu1172Asp)
c.*3230A>C (n.*3230A>C)
c.3333A>C (p.Glu1111Asp)
c.*169A>C (n.*169A>C)
c.*177A>C (n.*177A>C)
c.*1891A>C (n.*1891A>C)
c.3510A>C (p.Glu1170Asp)
c.*3340A>C (n.*3340A>C)
c.3090A>C (p.Glu1030Asp)
c.264A>C (p.Glu88Asp)
c.1303A>C (n.1303A>C)
c.98A>C
c.1166A>C
c.2298A>C (p.Glu766Asp)
c.3426A>C (p.Glu1142Asp)
c.341A>C
c.3606A>C (p.Glu1202Asp)
c.3273A>C (p.Glu1091Asp)
7g.117627569A>GCA457231189CFTRc.3516A>G (p.Glu1172=)
c.*3230A>G (n.*3230A>G)
c.3333A>G (p.Glu1111=)
c.*169A>G (n.*169A>G)
c.*177A>G (n.*177A>G)
c.*1891A>G (n.*1891A>G)
c.3510A>G (p.Glu1170=)
c.*3340A>G (n.*3340A>G)
c.3090A>G (p.Glu1030=)
c.264A>G (p.Glu88=)
c.1303A>G (n.1303A>G)
c.98A>G
c.1166A>G
c.2298A>G (p.Glu766=)
c.3426A>G (p.Glu1142=)
c.341A>G
c.3606A>G (p.Glu1202=)
c.3273A>G (p.Glu1091=)
7g.117627569A>TCA368996203CFTRc.3516A>T (p.Glu1172Asp)
c.*3230A>T (n.*3230A>T)
c.3333A>T (p.Glu1111Asp)
c.*169A>T (n.*169A>T)
c.*177A>T (n.*177A>T)
c.*1891A>T (n.*1891A>T)
c.3510A>T (p.Glu1170Asp)
c.*3340A>T (n.*3340A>T)
c.3090A>T (p.Glu1030Asp)
c.264A>T (p.Glu88Asp)
c.1303A>T (n.1303A>T)
c.98A>T
c.1166A>T
c.2298A>T (p.Glu766Asp)
c.3426A>T (p.Glu1142Asp)
c.341A>T
c.3606A>T (p.Glu1202Asp)
c.3273A>T (p.Glu1091Asp)
7g.117627570G>ACA4451489CFTRc.3517G>A (p.Gly1173Ser)
c.*3231G>A (n.*3231G>A)
c.3334G>A (p.Gly1112Ser)
c.*170G>A (n.*170G>A)
c.*178G>A (n.*178G>A)
c.*1892G>A (n.*1892G>A)
c.3511G>A (p.Gly1171Ser)
c.*3341G>A (n.*3341G>A)
c.3091G>A (p.Gly1031Ser)
c.265G>A (p.Gly89Ser)
c.1304G>A (n.1304G>A)
c.99G>A
c.1167G>A
c.2299G>A (p.Gly767Ser)
c.3427G>A (p.Gly1143Ser)
c.342G>A
c.3607G>A (p.Gly1203Ser)
c.3274G>A (p.Gly1092Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627570G>CCA368996208CFTRc.3517G>C (p.Gly1173Arg)
c.*3231G>C (n.*3231G>C)
c.3334G>C (p.Gly1112Arg)
c.*170G>C (n.*170G>C)
c.*178G>C (n.*178G>C)
c.*1892G>C (n.*1892G>C)
c.3511G>C (p.Gly1171Arg)
c.*3341G>C (n.*3341G>C)
c.3091G>C (p.Gly1031Arg)
c.265G>C (p.Gly89Arg)
c.1304G>C (n.1304G>C)
c.99G>C
c.1167G>C
c.2299G>C (p.Gly767Arg)
c.3427G>C (p.Gly1143Arg)
c.342G>C
c.3607G>C (p.Gly1203Arg)
c.3274G>C (p.Gly1092Arg)
 dbSNP
7g.117627570G=CA1737398627CFTRc.3517G= (p.Gly1173=)
c.*3231G= (n.*3231G=)
c.3334G= (p.Gly1112=)
c.*170G= (n.*170G=)
c.*178G= (n.*178G=)
c.*1892G= (n.*1892G=)
c.3511G= (p.Gly1171=)
c.*3341G= (n.*3341G=)
c.3091G= (p.Gly1031=)
c.265G= (p.Gly89=)
c.1304G= (n.1304G=)
c.99G=
c.1167G=
c.2299G= (p.Gly767=)
c.3427G= (p.Gly1143=)
c.342G=
c.3607G= (p.Gly1203=)
c.3274G= (p.Gly1092=)
7g.117627570G>TCA368996206CFTRc.3517G>T (p.Gly1173Cys)
c.*3231G>T (n.*3231G>T)
c.3334G>T (p.Gly1112Cys)
c.*170G>T (n.*170G>T)
c.*178G>T (n.*178G>T)
c.*1892G>T (n.*1892G>T)
c.3511G>T (p.Gly1171Cys)
c.*3341G>T (n.*3341G>T)
c.3091G>T (p.Gly1031Cys)
c.265G>T (p.Gly89Cys)
c.1304G>T (n.1304G>T)
c.99G>T
c.1167G>T
c.2299G>T (p.Gly767Cys)
c.3427G>T (p.Gly1143Cys)
c.342G>T
c.3607G>T (p.Gly1203Cys)
c.3274G>T (p.Gly1092Cys)
 dbSNP
7g.117627571G>ACA368996209CFTRc.3517+1G>A (n.3517+1G>A)
c.*3232G>A (n.*3232G>A)
c.3335G>A (p.Gly1112Asp)
c.3518G>A (p.Gly1173Asp)
c.*171G>A (n.*171G>A)
c.*179G>A (n.*179G>A)
c.*1893G>A (n.*1893G>A)
c.3512G>A (p.Gly1171Asp)
c.*3342G>A (n.*3342G>A)
c.3092G>A (p.Gly1031Asp)
c.266G>A (p.Gly89Asp)
c.1305G>A (n.1305G>A)
c.100G>A
c.1167+1G>A
c.2300G>A (p.Gly767Asp)
c.3428G>A (p.Gly1143Asp)
c.343G>A
c.3608G>A (p.Gly1203Asp)
c.3275G>A (p.Gly1092Asp)
 ClinVar gnomAD v4
7g.117627571G>CCA368996212CFTRc.3517+1G>C (n.3517+1G>C)
c.*3232G>C (n.*3232G>C)
c.3335G>C (p.Gly1112Ala)
c.3518G>C (p.Gly1173Ala)
c.*171G>C (n.*171G>C)
c.*179G>C (n.*179G>C)
c.*1893G>C (n.*1893G>C)
c.3512G>C (p.Gly1171Ala)
c.*3342G>C (n.*3342G>C)
c.3092G>C (p.Gly1031Ala)
c.266G>C (p.Gly89Ala)
c.1305G>C (n.1305G>C)
c.100G>C
c.1167+1G>C
c.2300G>C (p.Gly767Ala)
c.3428G>C (p.Gly1143Ala)
c.343G>C
c.3608G>C (p.Gly1203Ala)
c.3275G>C (p.Gly1092Ala)
7g.117627571G>TCA368996210CFTRc.3517+1G>T (n.3517+1G>T)
c.*3232G>T (n.*3232G>T)
c.3335G>T (p.Gly1112Val)
c.3518G>T (p.Gly1173Val)
c.*171G>T (n.*171G>T)
c.*179G>T (n.*179G>T)
c.*1893G>T (n.*1893G>T)
c.3512G>T (p.Gly1171Val)
c.*3342G>T (n.*3342G>T)
c.3092G>T (p.Gly1031Val)
c.266G>T (p.Gly89Val)
c.1305G>T (n.1305G>T)
c.100G>T
c.1167+1G>T
c.2300G>T (p.Gly767Val)
c.3428G>T (p.Gly1143Val)
c.343G>T
c.3608G>T (p.Gly1203Val)
c.3275G>T (p.Gly1092Val)
7g.117627572T>ACA457231190CFTRc.3517+2T>A (n.3517+2T>A)
c.*3233T>A (n.*3233T>A)
c.3336T>A (p.Gly1112=)
c.3519T>A (p.Gly1173=)
c.*172T>A (n.*172T>A)
c.*180T>A (n.*180T>A)
c.*1894T>A (n.*1894T>A)
c.3513T>A (p.Gly1171=)
c.*3343T>A (n.*3343T>A)
c.3093T>A (p.Gly1031=)
c.267T>A (p.Gly89=)
c.1306T>A (n.1306T>A)
c.101T>A
c.1167+2T>A
c.2301T>A (p.Gly767=)
c.3429T>A (p.Gly1143=)
c.344T>A
c.3609T>A (p.Gly1203=)
c.3276T>A (p.Gly1092=)
7g.117627572T>CCA457231191CFTRc.3517+2T>C (n.3517+2T>C)
c.*3233T>C (n.*3233T>C)
c.3336T>C (p.Gly1112=)
c.3519T>C (p.Gly1173=)
c.*172T>C (n.*172T>C)
c.*180T>C (n.*180T>C)
c.*1894T>C (n.*1894T>C)
c.3513T>C (p.Gly1171=)
c.*3343T>C (n.*3343T>C)
c.3093T>C (p.Gly1031=)
c.267T>C (p.Gly89=)
c.1306T>C (n.1306T>C)
c.101T>C
c.1167+2T>C
c.2301T>C (p.Gly767=)
c.3429T>C (p.Gly1143=)
c.344T>C
c.3609T>C (p.Gly1203=)
c.3276T>C (p.Gly1092=)
7g.117627572T>GCA457231192CFTRc.3517+2T>G (n.3517+2T>G)
c.*3233T>G (n.*3233T>G)
c.3336T>G (p.Gly1112=)
c.3519T>G (p.Gly1173=)
c.*172T>G (n.*172T>G)
c.*180T>G (n.*180T>G)
c.*1894T>G (n.*1894T>G)
c.3513T>G (p.Gly1171=)
c.*3343T>G (n.*3343T>G)
c.3093T>G (p.Gly1031=)
c.267T>G (p.Gly89=)
c.1306T>G (n.1306T>G)
c.101T>G
c.1167+2T>G
c.2301T>G (p.Gly767=)
c.3429T>G (p.Gly1143=)
c.344T>G
c.3609T>G (p.Gly1203=)
c.3276T>G (p.Gly1092=)
7g.117627573A>CCA368996215CFTRc.3517+3A>C (n.3517+3A>C)
c.*3234A>C (n.*3234A>C)
c.3337A>C (p.Lys1113Gln)
c.3520A>C (p.Lys1174Gln)
c.*173A>C (n.*173A>C)
c.*181A>C (n.*181A>C)
c.*1895A>C (n.*1895A>C)
c.3514A>C (p.Lys1172Gln)
c.*3344A>C (n.*3344A>C)
c.3094A>C (p.Lys1032Gln)
c.268A>C (p.Lys90Gln)
c.1307A>C (n.1307A>C)
c.102A>C
c.1167+3A>C
c.2302A>C (p.Lys768Gln)
c.3430A>C (p.Lys1144Gln)
c.345A>C
c.3610A>C (p.Lys1204Gln)
c.3277A>C (p.Lys1093Gln)
7g.117627573A>GCA368996217CFTRc.3517+3A>G (n.3517+3A>G)
c.*3234A>G (n.*3234A>G)
c.3337A>G (p.Lys1113Glu)
c.3520A>G (p.Lys1174Glu)
c.*173A>G (n.*173A>G)
c.*181A>G (n.*181A>G)
c.*1895A>G (n.*1895A>G)
c.3514A>G (p.Lys1172Glu)
c.*3344A>G (n.*3344A>G)
c.3094A>G (p.Lys1032Glu)
c.268A>G (p.Lys90Glu)
c.1307A>G (n.1307A>G)
c.102A>G
c.1167+3A>G
c.2302A>G (p.Lys768Glu)
c.3430A>G (p.Lys1144Glu)
c.345A>G
c.3610A>G (p.Lys1204Glu)
c.3277A>G (p.Lys1093Glu)
7g.117627573A>TCA368996218CFTRc.3517+3A>T (n.3517+3A>T)
c.*3234A>T (n.*3234A>T)
c.3337A>T (p.Lys1113Ter)
c.3520A>T (p.Lys1174Ter)
c.*173A>T (n.*173A>T)
c.*181A>T (n.*181A>T)
c.*1895A>T (n.*1895A>T)
c.3514A>T (p.Lys1172Ter)
c.*3344A>T (n.*3344A>T)
c.3094A>T (p.Lys1032Ter)
c.268A>T (p.Lys90Ter)
c.1307A>T (n.1307A>T)
c.102A>T
c.1167+3A>T
c.2302A>T (p.Lys768Ter)
c.3430A>T (p.Lys1144Ter)
c.345A>T
c.3610A>T (p.Lys1204Ter)
c.3277A>T (p.Lys1093Ter)
7g.117627574A=CA1737398628CFTRc.3517+4A= (n.3517+4A=)
c.*3235A= (n.*3235A=)
c.3338A= (p.Lys1113=)
c.3521A= (p.Lys1174=)
c.*174A= (n.*174A=)
c.*182A= (n.*182A=)
c.*1896A= (n.*1896A=)
c.3515A= (p.Lys1172=)
c.*3345A= (n.*3345A=)
c.3095A= (p.Lys1032=)
c.269A= (p.Lys90=)
c.1308A= (n.1308A=)
c.103A=
c.1167+4A=
c.2303A= (p.Lys768=)
c.3431A= (p.Lys1144=)
c.346A=
c.3611A= (p.Lys1204=)
c.3278A= (p.Lys1093=)
7g.117627574A>CCA4451490CFTRc.3517+4A>C (n.3517+4A>C)
c.*3235A>C (n.*3235A>C)
c.3338A>C (p.Lys1113Thr)
c.3521A>C (p.Lys1174Thr)
c.*174A>C (n.*174A>C)
c.*182A>C (n.*182A>C)
c.*1896A>C (n.*1896A>C)
c.3515A>C (p.Lys1172Thr)
c.*3345A>C (n.*3345A>C)
c.3095A>C (p.Lys1032Thr)
c.269A>C (p.Lys90Thr)
c.1308A>C (n.1308A>C)
c.103A>C
c.1167+4A>C
c.2303A>C (p.Lys768Thr)
c.3431A>C (p.Lys1144Thr)
c.346A>C
c.3611A>C (p.Lys1204Thr)
c.3278A>C (p.Lys1093Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627574A>GCA368996221CFTRc.3517+4A>G (n.3517+4A>G)
c.*3235A>G (n.*3235A>G)
c.3338A>G (p.Lys1113Arg)
c.3521A>G (p.Lys1174Arg)
c.*174A>G (n.*174A>G)
c.*182A>G (n.*182A>G)
c.*1896A>G (n.*1896A>G)
c.3515A>G (p.Lys1172Arg)
c.*3345A>G (n.*3345A>G)
c.3095A>G (p.Lys1032Arg)
c.269A>G (p.Lys90Arg)
c.1308A>G (n.1308A>G)
c.103A>G
c.1167+4A>G
c.2303A>G (p.Lys768Arg)
c.3431A>G (p.Lys1144Arg)
c.346A>G
c.3611A>G (p.Lys1204Arg)
c.3278A>G (p.Lys1093Arg)
7g.117627574A>TCA368996223CFTRc.3517+4A>T (n.3517+4A>T)
c.*3235A>T (n.*3235A>T)
c.3338A>T (p.Lys1113Ile)
c.3521A>T (p.Lys1174Ile)
c.*174A>T (n.*174A>T)
c.*182A>T (n.*182A>T)
c.*1896A>T (n.*1896A>T)
c.3515A>T (p.Lys1172Ile)
c.*3345A>T (n.*3345A>T)
c.3095A>T (p.Lys1032Ile)
c.269A>T (p.Lys90Ile)
c.1308A>T (n.1308A>T)
c.103A>T
c.1167+4A>T
c.2303A>T (p.Lys768Ile)
c.3431A>T (p.Lys1144Ile)
c.346A>T
c.3611A>T (p.Lys1204Ile)
c.3278A>T (p.Lys1093Ile)
7g.117627578_117627590delCA2580076327CFTRc.3517+8_3517+20del (n.3517+8_3517+20del)
c.*3239_*3251del (n.*3239_*3251del)
c.3342_3354del (p.Thr1115AsnfsTer12)
c.3525_3537del (p.Thr1176AsnfsTer12)
c.*178_*190del (n.*178_*190del)
c.*186_*198del (n.*186_*198del)
c.*1900_*1912del (n.*1900_*1912del)
c.3519_3531del (p.Thr1174AsnfsTer12)
c.*3349_*3361del (n.*3349_*3361del)
c.3099_3111del (p.Thr1034AsnfsTer12)
c.273_285del (p.Thr92AsnfsTer12)
c.1312_1324del (n.1312_1324del)
c.107_119del
c.1167+8_1167+20del
c.2307_2319del (p.Thr770AsnfsTer12)
c.3435_3447del (p.Thr1146AsnfsTer12)
c.350_362del
c.3615_3627del (p.Thr1206AsnfsTer12)
c.3282_3294del (p.Thr1095AsnfsTer12)
 ClinVar
7g.117627575A>CCA368996224CFTRc.3517+5A>C (n.3517+5A>C)
c.*3236A>C (n.*3236A>C)
c.3339A>C (p.Lys1113Asn)
c.3522A>C (p.Lys1174Asn)
c.*175A>C (n.*175A>C)
c.*183A>C (n.*183A>C)
c.*1897A>C (n.*1897A>C)
c.3516A>C (p.Lys1172Asn)
c.*3346A>C (n.*3346A>C)
c.3096A>C (p.Lys1032Asn)
c.270A>C (p.Lys90Asn)
c.1309A>C (n.1309A>C)
c.104A>C
c.1167+5A>C
c.2304A>C (p.Lys768Asn)
c.3432A>C (p.Lys1144Asn)
c.347A>C
c.3612A>C (p.Lys1204Asn)
c.3279A>C (p.Lys1093Asn)
7g.117627575A>GCA457231193CFTRc.3517+5A>G (n.3517+5A>G)
c.*3236A>G (n.*3236A>G)
c.3339A>G (p.Lys1113=)
c.3522A>G (p.Lys1174=)
c.*175A>G (n.*175A>G)
c.*183A>G (n.*183A>G)
c.*1897A>G (n.*1897A>G)
c.3516A>G (p.Lys1172=)
c.*3346A>G (n.*3346A>G)
c.3096A>G (p.Lys1032=)
c.270A>G (p.Lys90=)
c.1309A>G (n.1309A>G)
c.104A>G
c.1167+5A>G
c.2304A>G (p.Lys768=)
c.3432A>G (p.Lys1144=)
c.347A>G
c.3612A>G (p.Lys1204=)
c.3279A>G (p.Lys1093=)
7g.117627575A>TCA368996226CFTRc.3517+5A>T (n.3517+5A>T)
c.*3236A>T (n.*3236A>T)
c.3339A>T (p.Lys1113Asn)
c.3522A>T (p.Lys1174Asn)
c.*175A>T (n.*175A>T)
c.*183A>T (n.*183A>T)
c.*1897A>T (n.*1897A>T)
c.3516A>T (p.Lys1172Asn)
c.*3346A>T (n.*3346A>T)
c.3096A>T (p.Lys1032Asn)
c.270A>T (p.Lys90Asn)
c.1309A>T (n.1309A>T)
c.104A>T
c.1167+5A>T
c.2304A>T (p.Lys768Asn)
c.3432A>T (p.Lys1144Asn)
c.347A>T
c.3612A>T (p.Lys1204Asn)
c.3279A>T (p.Lys1093Asn)
7g.117627576C>ACA368996228CFTRc.3517+6C>A (n.3517+6C>A)
c.*3237C>A (n.*3237C>A)
c.3340C>A (p.Pro1114Thr)
c.3523C>A (p.Pro1175Thr)
c.*176C>A (n.*176C>A)
c.*184C>A (n.*184C>A)
c.*1898C>A (n.*1898C>A)
c.3517C>A (p.Pro1173Thr)
c.*3347C>A (n.*3347C>A)
c.3097C>A (p.Pro1033Thr)
c.271C>A (p.Pro91Thr)
c.1310C>A (n.1310C>A)
c.105C>A
c.1167+6C>A
c.2305C>A (p.Pro769Thr)
c.3433C>A (p.Pro1145Thr)
c.348C>A
c.3613C>A (p.Pro1205Thr)
c.3280C>A (p.Pro1094Thr)
7g.117627576C>GCA368996229CFTRc.3517+6C>G (n.3517+6C>G)
c.*3237C>G (n.*3237C>G)
c.3340C>G (p.Pro1114Ala)
c.3523C>G (p.Pro1175Ala)
c.*176C>G (n.*176C>G)
c.*184C>G (n.*184C>G)
c.*1898C>G (n.*1898C>G)
c.3517C>G (p.Pro1173Ala)
c.*3347C>G (n.*3347C>G)
c.3097C>G (p.Pro1033Ala)
c.271C>G (p.Pro91Ala)
c.1310C>G (n.1310C>G)
c.105C>G
c.1167+6C>G
c.2305C>G (p.Pro769Ala)
c.3433C>G (p.Pro1145Ala)
c.348C>G
c.3613C>G (p.Pro1205Ala)
c.3280C>G (p.Pro1094Ala)
7g.117627576C>TCA368996231CFTRc.3517+6C>T (n.3517+6C>T)
c.*3237C>T (n.*3237C>T)
c.3340C>T (p.Pro1114Ser)
c.3523C>T (p.Pro1175Ser)
c.*176C>T (n.*176C>T)
c.*184C>T (n.*184C>T)
c.*1898C>T (n.*1898C>T)
c.3517C>T (p.Pro1173Ser)
c.*3347C>T (n.*3347C>T)
c.3097C>T (p.Pro1033Ser)
c.271C>T (p.Pro91Ser)
c.1310C>T (n.1310C>T)
c.105C>T
c.1167+6C>T
c.2305C>T (p.Pro769Ser)
c.3433C>T (p.Pro1145Ser)
c.348C>T
c.3613C>T (p.Pro1205Ser)
c.3280C>T (p.Pro1094Ser)
 ClinVar
7g.117627577C>ACA368996234CFTRc.3517+7C>A (n.3517+7C>A)
c.*3238C>A (n.*3238C>A)
c.3341C>A (p.Pro1114His)
c.3524C>A (p.Pro1175His)
c.*177C>A (n.*177C>A)
c.*185C>A (n.*185C>A)
c.*1899C>A (n.*1899C>A)
c.3518C>A (p.Pro1173His)
c.*3348C>A (n.*3348C>A)
c.3098C>A (p.Pro1033His)
c.272C>A (p.Pro91His)
c.1311C>A (n.1311C>A)
c.106C>A
c.1167+7C>A
c.2306C>A (p.Pro769His)
c.3434C>A (p.Pro1145His)
c.349C>A
c.3614C>A (p.Pro1205His)
c.3281C>A (p.Pro1094His)
7g.117627577C>GCA368996239CFTRc.3517+7C>G (n.3517+7C>G)
c.*3238C>G (n.*3238C>G)
c.3341C>G (p.Pro1114Arg)
c.3524C>G (p.Pro1175Arg)
c.*177C>G (n.*177C>G)
c.*185C>G (n.*185C>G)
c.*1899C>G (n.*1899C>G)
c.3518C>G (p.Pro1173Arg)
c.*3348C>G (n.*3348C>G)
c.3098C>G (p.Pro1033Arg)
c.272C>G (p.Pro91Arg)
c.1311C>G (n.1311C>G)
c.106C>G
c.1167+7C>G
c.2306C>G (p.Pro769Arg)
c.3434C>G (p.Pro1145Arg)
c.349C>G
c.3614C>G (p.Pro1205Arg)
c.3281C>G (p.Pro1094Arg)
7g.117627577C>TCA368996238CFTRc.3517+7C>T (n.3517+7C>T)
c.*3238C>T (n.*3238C>T)
c.3341C>T (p.Pro1114Leu)
c.3524C>T (p.Pro1175Leu)
c.*177C>T (n.*177C>T)
c.*185C>T (n.*185C>T)
c.*1899C>T (n.*1899C>T)
c.3518C>T (p.Pro1173Leu)
c.*3348C>T (n.*3348C>T)
c.3098C>T (p.Pro1033Leu)
c.272C>T (p.Pro91Leu)
c.1311C>T (n.1311C>T)
c.106C>T
c.1167+7C>T
c.2306C>T (p.Pro769Leu)
c.3434C>T (p.Pro1145Leu)
c.349C>T
c.3614C>T (p.Pro1205Leu)
c.3281C>T (p.Pro1094Leu)
 ClinVar
7g.117627578T>ACA457231196CFTRc.3517+8T>A (n.3517+8T>A)
c.*3239T>A (n.*3239T>A)
c.3342T>A (p.Pro1114=)
c.3525T>A (p.Pro1175=)
c.*178T>A (n.*178T>A)
c.*186T>A (n.*186T>A)
c.*1900T>A (n.*1900T>A)
c.3519T>A (p.Pro1173=)
c.*3349T>A (n.*3349T>A)
c.3099T>A (p.Pro1033=)
c.273T>A (p.Pro91=)
c.1312T>A (n.1312T>A)
c.107T>A
c.1167+8T>A
c.2307T>A (p.Pro769=)
c.3435T>A (p.Pro1145=)
c.350T>A
c.3615T>A (p.Pro1205=)
c.3282T>A (p.Pro1094=)
7g.117627578T>CCA457231194CFTRc.3517+8T>C (n.3517+8T>C)
c.*3239T>C (n.*3239T>C)
c.3342T>C (p.Pro1114=)
c.3525T>C (p.Pro1175=)
c.*178T>C (n.*178T>C)
c.*186T>C (n.*186T>C)
c.*1900T>C (n.*1900T>C)
c.3519T>C (p.Pro1173=)
c.*3349T>C (n.*3349T>C)
c.3099T>C (p.Pro1033=)
c.273T>C (p.Pro91=)
c.1312T>C (n.1312T>C)
c.107T>C
c.1167+8T>C
c.2307T>C (p.Pro769=)
c.3435T>C (p.Pro1145=)
c.350T>C
c.3615T>C (p.Pro1205=)
c.3282T>C (p.Pro1094=)
7g.117627578T>GCA457231195CFTRc.3517+8T>G (n.3517+8T>G)
c.*3239T>G (n.*3239T>G)
c.3342T>G (p.Pro1114=)
c.3525T>G (p.Pro1175=)
c.*178T>G (n.*178T>G)
c.*186T>G (n.*186T>G)
c.*1900T>G (n.*1900T>G)
c.3519T>G (p.Pro1173=)
c.*3349T>G (n.*3349T>G)
c.3099T>G (p.Pro1033=)
c.273T>G (p.Pro91=)
c.1312T>G (n.1312T>G)
c.107T>G
c.1167+8T>G
c.2307T>G (p.Pro769=)
c.3435T>G (p.Pro1145=)
c.350T>G
c.3615T>G (p.Pro1205=)
c.3282T>G (p.Pro1094=)
7g.117627579A>CCA368996242CFTRc.3517+9A>C (n.3517+9A>C)
c.*3240A>C (n.*3240A>C)
c.3343A>C (p.Thr1115Pro)
c.3526A>C (p.Thr1176Pro)
c.*179A>C (n.*179A>C)
c.*187A>C (n.*187A>C)
c.*1901A>C (n.*1901A>C)
c.3520A>C (p.Thr1174Pro)
c.*3350A>C (n.*3350A>C)
c.3100A>C (p.Thr1034Pro)
c.274A>C (p.Thr92Pro)
c.1313A>C (n.1313A>C)
c.108A>C
c.1167+9A>C
c.2308A>C (p.Thr770Pro)
c.3436A>C (p.Thr1146Pro)
c.351A>C
c.3616A>C (p.Thr1206Pro)
c.3283A>C (p.Thr1095Pro)
7g.117627579A>GCA368996244CFTRc.3517+9A>G (n.3517+9A>G)
c.*3240A>G (n.*3240A>G)
c.3343A>G (p.Thr1115Ala)
c.3526A>G (p.Thr1176Ala)
c.*179A>G (n.*179A>G)
c.*187A>G (n.*187A>G)
c.*1901A>G (n.*1901A>G)
c.3520A>G (p.Thr1174Ala)
c.*3350A>G (n.*3350A>G)
c.3100A>G (p.Thr1034Ala)
c.274A>G (p.Thr92Ala)
c.1313A>G (n.1313A>G)
c.108A>G
c.1167+9A>G
c.2308A>G (p.Thr770Ala)
c.3436A>G (p.Thr1146Ala)
c.351A>G
c.3616A>G (p.Thr1206Ala)
c.3283A>G (p.Thr1095Ala)
7g.117627579A>TCA368996246CFTRc.3517+9A>T (n.3517+9A>T)
c.*3240A>T (n.*3240A>T)
c.3343A>T (p.Thr1115Ser)
c.3526A>T (p.Thr1176Ser)
c.*179A>T (n.*179A>T)
c.*187A>T (n.*187A>T)
c.*1901A>T (n.*1901A>T)
c.3520A>T (p.Thr1174Ser)
c.*3350A>T (n.*3350A>T)
c.3100A>T (p.Thr1034Ser)
c.274A>T (p.Thr92Ser)
c.1313A>T (n.1313A>T)
c.108A>T
c.1167+9A>T
c.2308A>T (p.Thr770Ser)
c.3436A>T (p.Thr1146Ser)
c.351A>T
c.3616A>T (p.Thr1206Ser)
c.3283A>T (p.Thr1095Ser)
7g.117627579_117627580delinsACCA1737398629CFTRc.3517+9_3517+10delinsAC (n.3517+9_3517+10delinsAC)
c.*3240_*3241delinsAC (n.*3240_*3241delinsAC)
c.3343_3344delinsAC (p.Thr1115=)
c.3526_3527delinsAC (p.Thr1176=)
c.*179_*180delinsAC (n.*179_*180delinsAC)
c.*187_*188delinsAC (n.*187_*188delinsAC)
c.*1901_*1902delinsAC (n.*1901_*1902delinsAC)
c.3520_3521delinsAC (p.Thr1174=)
c.*3350_*3351delinsAC (n.*3350_*3351delinsAC)
c.3100_3101delinsAC (p.Thr1034=)
c.274_275delinsAC (p.Thr92=)
c.1313_1314delinsAC (n.1313_1314delinsAC)
c.108_109delinsAC
c.1167+9_1167+10delinsAC
c.2308_2309delinsAC (p.Thr770=)
c.3436_3437delinsAC (p.Thr1146=)
c.351_352delinsAC
c.3616_3617delinsAC (p.Thr1206=)
c.3283_3284delinsAC (p.Thr1095=)
7g.117627580C>ACA368996250CFTRc.3517+10C>A (n.3517+10C>A)
c.*3241C>A (n.*3241C>A)
c.3344C>A (p.Thr1115Asn)
c.3527C>A (p.Thr1176Asn)
c.*180C>A (n.*180C>A)
c.*188C>A (n.*188C>A)
c.*1902C>A (n.*1902C>A)
c.3521C>A (p.Thr1174Asn)
c.*3351C>A (n.*3351C>A)
c.3101C>A (p.Thr1034Asn)
c.275C>A (p.Thr92Asn)
c.1314C>A (n.1314C>A)
c.109C>A
c.1167+10C>A
c.2309C>A (p.Thr770Asn)
c.3437C>A (p.Thr1146Asn)
c.352C>A
c.3617C>A (p.Thr1206Asn)
c.3284C>A (p.Thr1095Asn)
7g.117627580C>GCA368996252CFTRc.3517+10C>G (n.3517+10C>G)
c.*3241C>G (n.*3241C>G)
c.3344C>G (p.Thr1115Ser)
c.3527C>G (p.Thr1176Ser)
c.*180C>G (n.*180C>G)
c.*188C>G (n.*188C>G)
c.*1902C>G (n.*1902C>G)
c.3521C>G (p.Thr1174Ser)
c.*3351C>G (n.*3351C>G)
c.3101C>G (p.Thr1034Ser)
c.275C>G (p.Thr92Ser)
c.1314C>G (n.1314C>G)
c.109C>G
c.1167+10C>G
c.2309C>G (p.Thr770Ser)
c.3437C>G (p.Thr1146Ser)
c.352C>G
c.3617C>G (p.Thr1206Ser)
c.3284C>G (p.Thr1095Ser)
 ClinVar
7g.117627580C>TCA368996254CFTRc.3517+10C>T (n.3517+10C>T)
c.*3241C>T (n.*3241C>T)
c.3344C>T (p.Thr1115Ile)
c.3527C>T (p.Thr1176Ile)
c.*180C>T (n.*180C>T)
c.*188C>T (n.*188C>T)
c.*1902C>T (n.*1902C>T)
c.3521C>T (p.Thr1174Ile)
c.*3351C>T (n.*3351C>T)
c.3101C>T (p.Thr1034Ile)
c.275C>T (p.Thr92Ile)
c.1314C>T (n.1314C>T)
c.109C>T
c.1167+10C>T
c.2309C>T (p.Thr770Ile)
c.3437C>T (p.Thr1146Ile)
c.352C>T
c.3617C>T (p.Thr1206Ile)
c.3284C>T (p.Thr1095Ile)
7g.117627581dupCA164976506CFTRc.3517+11dup (n.3517+11dup)
c.*3242dup (n.*3242dup)
c.3345dup (p.Lys1116GlnfsTer18)
c.3528dup (p.Lys1177GlnfsTer18)
c.*181dup (n.*181dup)
c.*189dup (n.*189dup)
c.*1903dup (n.*1903dup)
c.3522dup (p.Lys1175GlnfsTer18)
c.*3352dup (n.*3352dup)
c.3102dup (p.Lys1035GlnfsTer18)
c.276dup (p.Lys93GlnfsTer18)
c.1315dup (n.1315dup)
c.110dup
c.1167+11dup
c.2310dup (p.Lys771GlnfsTer18)
c.3438dup (p.Lys1147GlnfsTer18)
c.353dup
c.3618dup (p.Lys1207GlnfsTer18)
c.3285dup (p.Lys1096GlnfsTer18)
7g.117627581delCA342839CFTRc.3517+11del (n.3517+11del)
c.*3242del (n.*3242del)
c.3345del (p.Lys1116SerfsTer15)
c.3528del (p.Lys1177SerfsTer15)
c.*181del (n.*181del)
c.*189del (n.*189del)
c.*1903del (n.*1903del)
c.3522del (p.Lys1175SerfsTer15)
c.*3352del (n.*3352del)
c.3102del (p.Lys1035SerfsTer15)
c.276del (p.Lys93SerfsTer15)
c.1315del (n.1315del)
c.110del
c.1167+11del
c.2310del (p.Lys771SerfsTer15)
c.3438del (p.Lys1147SerfsTer15)
c.353del
c.3618del (p.Lys1207SerfsTer15)
c.3285del (p.Lys1096SerfsTer15)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627581C>ACA457231197CFTRc.3517+11C>A (n.3517+11C>A)
c.*3242C>A (n.*3242C>A)
c.3345C>A (p.Thr1115=)
c.3528C>A (p.Thr1176=)
c.*181C>A (n.*181C>A)
c.*189C>A (n.*189C>A)
c.*1903C>A (n.*1903C>A)
c.3522C>A (p.Thr1174=)
c.*3352C>A (n.*3352C>A)
c.3102C>A (p.Thr1034=)
c.276C>A (p.Thr92=)
c.1315C>A (n.1315C>A)
c.110C>A
c.1167+11C>A
c.2310C>A (p.Thr770=)
c.3438C>A (p.Thr1146=)
c.353C>A
c.3618C>A (p.Thr1206=)
c.3285C>A (p.Thr1095=)
7g.117627581C>GCA457231198CFTRc.3517+11C>G (n.3517+11C>G)
c.*3242C>G (n.*3242C>G)
c.3345C>G (p.Thr1115=)
c.3528C>G (p.Thr1176=)
c.*181C>G (n.*181C>G)
c.*189C>G (n.*189C>G)
c.*1903C>G (n.*1903C>G)
c.3522C>G (p.Thr1174=)
c.*3352C>G (n.*3352C>G)
c.3102C>G (p.Thr1034=)
c.276C>G (p.Thr92=)
c.1315C>G (n.1315C>G)
c.110C>G
c.1167+11C>G
c.2310C>G (p.Thr770=)
c.3438C>G (p.Thr1146=)
c.353C>G
c.3618C>G (p.Thr1206=)
c.3285C>G (p.Thr1095=)
7g.117627581C>TCA457231199CFTRc.3517+11C>T (n.3517+11C>T)
c.*3242C>T (n.*3242C>T)
c.3345C>T (p.Thr1115=)
c.3528C>T (p.Thr1176=)
c.*181C>T (n.*181C>T)
c.*189C>T (n.*189C>T)
c.*1903C>T (n.*1903C>T)
c.3522C>T (p.Thr1174=)
c.*3352C>T (n.*3352C>T)
c.3102C>T (p.Thr1034=)
c.276C>T (p.Thr92=)
c.1315C>T (n.1315C>T)
c.110C>T
c.1167+11C>T
c.2310C>T (p.Thr770=)
c.3438C>T (p.Thr1146=)
c.353C>T
c.3618C>T (p.Thr1206=)
c.3285C>T (p.Thr1095=)
 ClinVar
7g.117627581_117627582delinsCACA1737398630CFTRc.3517+11_3517+12delinsCA (n.3517+11_3517+12delinsCA)
c.*3242_*3243delinsCA (n.*3242_*3243delinsCA)
c.3345_3346delinsCA (p.Thr1115=)
c.3528_3529delinsCA (p.Thr1176=)
c.*181_*182delinsCA (n.*181_*182delinsCA)
c.*189_*190delinsCA (n.*189_*190delinsCA)
c.*1903_*1904delinsCA (n.*1903_*1904delinsCA)
c.3522_3523delinsCA (p.Thr1174=)
c.*3352_*3353delinsCA (n.*3352_*3353delinsCA)
c.3102_3103delinsCA (p.Thr1034=)
c.276_277delinsCA (p.Thr92=)
c.1315_1316delinsCA (n.1315_1316delinsCA)
c.110_111delinsCA
c.1167+11_1167+12delinsCA
c.2310_2311delinsCA (p.Thr770=)
c.3438_3439delinsCA (p.Thr1146=)
c.353_354delinsCA
c.3618_3619delinsCA (p.Thr1206=)
c.3285_3286delinsCA (p.Thr1095=)
7g.117627582A=CA1737398631CFTRc.3517+12A= (n.3517+12A=)
c.*3243A= (n.*3243A=)
c.3346A= (p.Lys1116=)
c.3529A= (p.Lys1177=)
c.*182A= (n.*182A=)
c.*190A= (n.*190A=)
c.*1904A= (n.*1904A=)
c.3523A= (p.Lys1175=)
c.*3353A= (n.*3353A=)
c.3103A= (p.Lys1035=)
c.277A= (p.Lys93=)
c.1316A= (n.1316A=)
c.111A=
c.1167+12A=
c.2311A= (p.Lys771=)
c.3439A= (p.Lys1147=)
c.354A=
c.3619A= (p.Lys1207=)
c.3286A= (p.Lys1096=)
7g.117627582A>CCA368996262CFTRc.3517+12A>C (n.3517+12A>C)
c.*3243A>C (n.*3243A>C)
c.3346A>C (p.Lys1116Gln)
c.3529A>C (p.Lys1177Gln)
c.*182A>C (n.*182A>C)
c.*190A>C (n.*190A>C)
c.*1904A>C (n.*1904A>C)
c.3523A>C (p.Lys1175Gln)
c.*3353A>C (n.*3353A>C)
c.3103A>C (p.Lys1035Gln)
c.277A>C (p.Lys93Gln)
c.1316A>C (n.1316A>C)
c.111A>C
c.1167+12A>C
c.2311A>C (p.Lys771Gln)
c.3439A>C (p.Lys1147Gln)
c.354A>C
c.3619A>C (p.Lys1207Gln)
c.3286A>C (p.Lys1096Gln)
7g.117627582A>GCA368996261CFTRc.3517+12A>G (n.3517+12A>G)
c.*3243A>G (n.*3243A>G)
c.3346A>G (p.Lys1116Glu)
c.3529A>G (p.Lys1177Glu)
c.*182A>G (n.*182A>G)
c.*190A>G (n.*190A>G)
c.*1904A>G (n.*1904A>G)
c.3523A>G (p.Lys1175Glu)
c.*3353A>G (n.*3353A>G)
c.3103A>G (p.Lys1035Glu)
c.277A>G (p.Lys93Glu)
c.1316A>G (n.1316A>G)
c.111A>G
c.1167+12A>G
c.2311A>G (p.Lys771Glu)
c.3439A>G (p.Lys1147Glu)
c.354A>G
c.3619A>G (p.Lys1207Glu)
c.3286A>G (p.Lys1096Glu)
 ClinVar dbSNP
7g.117627582A>TCA327223CFTRc.3517+12A>T (n.3517+12A>T)
c.*3243A>T (n.*3243A>T)
c.3346A>T (p.Lys1116Ter)
c.3529A>T (p.Lys1177Ter)
c.*182A>T (n.*182A>T)
c.*190A>T (n.*190A>T)
c.*1904A>T (n.*1904A>T)
c.3523A>T (p.Lys1175Ter)
c.*3353A>T (n.*3353A>T)
c.3103A>T (p.Lys1035Ter)
c.277A>T (p.Lys93Ter)
c.1316A>T (n.1316A>T)
c.111A>T
c.1167+12A>T
c.2311A>T (p.Lys771Ter)
c.3439A>T (p.Lys1147Ter)
c.354A>T
c.3619A>T (p.Lys1207Ter)
c.3286A>T (p.Lys1096Ter)
 ClinVar dbSNP
7g.117627583delCA327225CFTRc.3517+13del (n.3517+13del)
c.*3244del (n.*3244del)
c.3347del (p.Lys1116SerfsTer15)
c.3530del (p.Lys1177SerfsTer15)
c.*183del (n.*183del)
c.*191del (n.*191del)
c.*1905del (n.*1905del)
c.3524del (p.Lys1175SerfsTer15)
c.*3354del (n.*3354del)
c.3104del (p.Lys1035SerfsTer15)
c.278del (p.Lys93SerfsTer15)
c.1317del (n.1317del)
c.112del
c.1167+13del
c.2312del (p.Lys771SerfsTer15)
c.3440del (p.Lys1147SerfsTer15)
c.355del
c.3620del (p.Lys1207SerfsTer15)
c.3287del (p.Lys1096SerfsTer15)
 ClinVar dbSNP
7g.117627583A=CA1737398632CFTRc.3517+13A= (n.3517+13A=)
c.*3244A= (n.*3244A=)
c.3347A= (p.Lys1116=)
c.3530A= (p.Lys1177=)
c.*183A= (n.*183A=)
c.*191A= (n.*191A=)
c.*1905A= (n.*1905A=)
c.3524A= (p.Lys1175=)
c.*3354A= (n.*3354A=)
c.3104A= (p.Lys1035=)
c.278A= (p.Lys93=)
c.1317A= (n.1317A=)
c.112A=
c.1167+13A=
c.2312A= (p.Lys771=)
c.3440A= (p.Lys1147=)
c.355A=
c.3620A= (p.Lys1207=)
c.3287A= (p.Lys1096=)
7g.117627583A>CCA4451492CFTRc.3517+13A>C (n.3517+13A>C)
c.*3244A>C (n.*3244A>C)
c.3347A>C (p.Lys1116Thr)
c.3530A>C (p.Lys1177Thr)
c.*183A>C (n.*183A>C)
c.*191A>C (n.*191A>C)
c.*1905A>C (n.*1905A>C)
c.3524A>C (p.Lys1175Thr)
c.*3354A>C (n.*3354A>C)
c.3104A>C (p.Lys1035Thr)
c.278A>C (p.Lys93Thr)
c.1317A>C (n.1317A>C)
c.112A>C
c.1167+13A>C
c.2312A>C (p.Lys771Thr)
c.3440A>C (p.Lys1147Thr)
c.355A>C
c.3620A>C (p.Lys1207Thr)
c.3287A>C (p.Lys1096Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117627583A>GCA4451491CFTRc.3517+13A>G (n.3517+13A>G)
c.*3244A>G (n.*3244A>G)
c.3347A>G (p.Lys1116Arg)
c.3530A>G (p.Lys1177Arg)
c.*183A>G (n.*183A>G)
c.*191A>G (n.*191A>G)
c.*1905A>G (n.*1905A>G)
c.3524A>G (p.Lys1175Arg)
c.*3354A>G (n.*3354A>G)
c.3104A>G (p.Lys1035Arg)
c.278A>G (p.Lys93Arg)
c.1317A>G (n.1317A>G)
c.112A>G
c.1167+13A>G
c.2312A>G (p.Lys771Arg)
c.3440A>G (p.Lys1147Arg)
c.355A>G
c.3620A>G (p.Lys1207Arg)
c.3287A>G (p.Lys1096Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117627583A>TCA368996265CFTRc.3517+13A>T (n.3517+13A>T)
c.*3244A>T (n.*3244A>T)
c.3347A>T (p.Lys1116Met)
c.3530A>T (p.Lys1177Met)
c.*183A>T (n.*183A>T)
c.*191A>T (n.*191A>T)
c.*1905A>T (n.*1905A>T)
c.3524A>T (p.Lys1175Met)
c.*3354A>T (n.*3354A>T)
c.3104A>T (p.Lys1035Met)
c.278A>T (p.Lys93Met)
c.1317A>T (n.1317A>T)
c.112A>T
c.1167+13A>T
c.2312A>T (p.Lys771Met)
c.3440A>T (p.Lys1147Met)
c.355A>T
c.3620A>T (p.Lys1207Met)
c.3287A>T (p.Lys1096Met)
7g.117627584G>ACA4451493CFTRc.3517+14G>A (n.3517+14G>A)
c.*3245G>A (n.*3245G>A)
c.3348G>A (p.Lys1116=)
c.3531G>A (p.Lys1177=)
c.*184G>A (n.*184G>A)
c.*192G>A (n.*192G>A)
c.*1906G>A (n.*1906G>A)
c.3525G>A (p.Lys1175=)
c.*3355G>A (n.*3355G>A)
c.3105G>A (p.Lys1035=)
c.279G>A (p.Lys93=)
c.1318G>A (n.1318G>A)
c.113G>A
c.1167+14G>A
c.2313G>A (p.Lys771=)
c.3441G>A (p.Lys1147=)
c.356G>A
c.3621G>A (p.Lys1207=)
c.3288G>A (p.Lys1096=)
 ClinVar dbSNP ExAC gnomAD v4
7g.117627584G>CCA368996270CFTRc.3517+14G>C (n.3517+14G>C)
c.*3245G>C (n.*3245G>C)
c.3348G>C (p.Lys1116Asn)
c.3531G>C (p.Lys1177Asn)
c.*184G>C (n.*184G>C)
c.*192G>C (n.*192G>C)
c.*1906G>C (n.*1906G>C)
c.3525G>C (p.Lys1175Asn)
c.*3355G>C (n.*3355G>C)
c.3105G>C (p.Lys1035Asn)
c.279G>C (p.Lys93Asn)
c.1318G>C (n.1318G>C)
c.113G>C
c.1167+14G>C
c.2313G>C (p.Lys771Asn)
c.3441G>C (p.Lys1147Asn)
c.356G>C
c.3621G>C (p.Lys1207Asn)
c.3288G>C (p.Lys1096Asn)
 gnomAD v4
7g.117627584G=CA1737398633CFTRc.3517+14G= (n.3517+14G=)
c.*3245G= (n.*3245G=)
c.3348G= (p.Lys1116=)
c.3531G= (p.Lys1177=)
c.*184G= (n.*184G=)
c.*192G= (n.*192G=)
c.*1906G= (n.*1906G=)
c.3525G= (p.Lys1175=)
c.*3355G= (n.*3355G=)
c.3105G= (p.Lys1035=)
c.279G= (p.Lys93=)
c.1318G= (n.1318G=)
c.113G=
c.1167+14G=
c.2313G= (p.Lys771=)
c.3441G= (p.Lys1147=)
c.356G=
c.3621G= (p.Lys1207=)
c.3288G= (p.Lys1096=)
7g.117627584G>TCA368996272CFTRc.3517+14G>T (n.3517+14G>T)
c.*3245G>T (n.*3245G>T)
c.3348G>T (p.Lys1116Asn)
c.3531G>T (p.Lys1177Asn)
c.*184G>T (n.*184G>T)
c.*192G>T (n.*192G>T)
c.*1906G>T (n.*1906G>T)
c.3525G>T (p.Lys1175Asn)
c.*3355G>T (n.*3355G>T)
c.3105G>T (p.Lys1035Asn)
c.279G>T (p.Lys93Asn)
c.1318G>T (n.1318G>T)
c.113G>T
c.1167+14G>T
c.2313G>T (p.Lys771Asn)
c.3441G>T (p.Lys1147Asn)
c.356G>T
c.3621G>T (p.Lys1207Asn)
c.3288G>T (p.Lys1096Asn)
7g.117627585T>ACA368996276CFTRc.3517+15T>A (n.3517+15T>A)
c.*3246T>A (n.*3246T>A)
c.3349T>A (p.Ser1117Thr)
c.3532T>A (p.Ser1178Thr)
c.*185T>A (n.*185T>A)
c.*193T>A (n.*193T>A)
c.*1907T>A (n.*1907T>A)
c.3526T>A (p.Ser1176Thr)
c.*3356T>A (n.*3356T>A)
c.3106T>A (p.Ser1036Thr)
c.280T>A (p.Ser94Thr)
c.1319T>A (n.1319T>A)
c.114T>A
c.1167+15T>A
c.2314T>A (p.Ser772Thr)
c.3442T>A (p.Ser1148Thr)
c.357T>A
c.3622T>A (p.Ser1208Thr)
c.3289T>A (p.Ser1097Thr)
 ClinVar
7g.117627585T>CCA368996278CFTRc.3517+15T>C (n.3517+15T>C)
c.*3246T>C (n.*3246T>C)
c.3349T>C (p.Ser1117Pro)
c.3532T>C (p.Ser1178Pro)
c.*185T>C (n.*185T>C)
c.*193T>C (n.*193T>C)
c.*1907T>C (n.*1907T>C)
c.3526T>C (p.Ser1176Pro)
c.*3356T>C (n.*3356T>C)
c.3106T>C (p.Ser1036Pro)
c.280T>C (p.Ser94Pro)
c.1319T>C (n.1319T>C)
c.114T>C
c.1167+15T>C
c.2314T>C (p.Ser772Pro)
c.3442T>C (p.Ser1148Pro)
c.357T>C
c.3622T>C (p.Ser1208Pro)
c.3289T>C (p.Ser1097Pro)
7g.117627585T>GCA368996280CFTRc.3517+15T>G (n.3517+15T>G)
c.*3246T>G (n.*3246T>G)
c.3349T>G (p.Ser1117Ala)
c.3532T>G (p.Ser1178Ala)
c.*185T>G (n.*185T>G)
c.*193T>G (n.*193T>G)
c.*1907T>G (n.*1907T>G)
c.3526T>G (p.Ser1176Ala)
c.*3356T>G (n.*3356T>G)
c.3106T>G (p.Ser1036Ala)
c.280T>G (p.Ser94Ala)
c.1319T>G (n.1319T>G)
c.114T>G
c.1167+15T>G
c.2314T>G (p.Ser772Ala)
c.3442T>G (p.Ser1148Ala)
c.357T>G
c.3622T>G (p.Ser1208Ala)
c.3289T>G (p.Ser1097Ala)
7g.117627585_117627588dupCA254117CFTRc.3517+15_3517+18dup (n.3517+15_3517+18dup)
c.*3246_*3249dup (n.*3246_*3249dup)
c.3349_3352dup (p.Thr1118IlefsTer17)
c.3532_3535dup (p.Thr1179IlefsTer17)
c.*185_*188dup (n.*185_*188dup)
c.*193_*196dup (n.*193_*196dup)
c.*1907_*1910dup (n.*1907_*1910dup)
c.3526_3529dup (p.Thr1177IlefsTer17)
c.*3356_*3359dup (n.*3356_*3359dup)
c.3106_3109dup (p.Thr1037IlefsTer17)
c.280_283dup (p.Thr95IlefsTer17)
c.1319_1322dup (n.1319_1322dup)
c.114_117dup
c.1167+15_1167+18dup
c.2314_2317dup (p.Thr773IlefsTer17)
c.3442_3445dup (p.Thr1149IlefsTer17)
c.357_360dup
c.3622_3625dup (p.Thr1209IlefsTer17)
c.3289_3292dup (p.Thr1098IlefsTer17)
 ClinVar dbSNP
7g.117627585_117627589delinsTCAACCA1737398634CFTRc.3517+15_3517+19delinsTCAAC (n.3517+15_3517+19delinsTCAAC)
c.*3246_*3250delinsTCAAC (n.*3246_*3250delinsTCAAC)
c.3349_3353delinsTCAAC (p.Ser1117=)
c.3532_3536delinsTCAAC (p.Ser1178=)
c.*185_*189delinsTCAAC (n.*185_*189delinsTCAAC)
c.*193_*197delinsTCAAC (n.*193_*197delinsTCAAC)
c.*1907_*1911delinsTCAAC (n.*1907_*1911delinsTCAAC)
c.3526_3530delinsTCAAC (p.Ser1176=)
c.*3356_*3360delinsTCAAC (n.*3356_*3360delinsTCAAC)
c.3106_3110delinsTCAAC (p.Ser1036=)
c.280_284delinsTCAAC (p.Ser94=)
c.1319_1323delinsTCAAC (n.1319_1323delinsTCAAC)
c.114_118delinsTCAAC
c.1167+15_1167+19delinsTCAAC
c.2314_2318delinsTCAAC (p.Ser772=)
c.3442_3446delinsTCAAC (p.Ser1148=)
c.357_361delinsTCAAC
c.3622_3626delinsTCAAC (p.Ser1208=)
c.3289_3293delinsTCAAC (p.Ser1097=)
7g.117627586C>ACA16041137CFTRc.3517+16C>A (n.3517+16C>A)
c.*3247C>A (n.*3247C>A)
c.3350C>A (p.Ser1117Ter)
c.3533C>A (p.Ser1178Ter)
c.*186C>A (n.*186C>A)
c.*194C>A (n.*194C>A)
c.*1908C>A (n.*1908C>A)
c.3527C>A (p.Ser1176Ter)
c.*3357C>A (n.*3357C>A)
c.3107C>A (p.Ser1036Ter)
c.281C>A (p.Ser94Ter)
c.1320C>A (n.1320C>A)
c.115C>A
c.1167+16C>A
c.2315C>A (p.Ser772Ter)
c.3443C>A (p.Ser1148Ter)
c.358C>A
c.3623C>A (p.Ser1208Ter)
c.3290C>A (p.Ser1097Ter)
 ClinVar dbSNP gnomAD v4
7g.117627586C=CA1737398635CFTRc.3517+16C= (n.3517+16C=)
c.*3247C= (n.*3247C=)
c.3350C= (p.Ser1117=)
c.3533C= (p.Ser1178=)
c.*186C= (n.*186C=)
c.*194C= (n.*194C=)
c.*1908C= (n.*1908C=)
c.3527C= (p.Ser1176=)
c.*3357C= (n.*3357C=)
c.3107C= (p.Ser1036=)
c.281C= (p.Ser94=)
c.1320C= (n.1320C=)
c.115C=
c.1167+16C=
c.2315C= (p.Ser772=)
c.3443C= (p.Ser1148=)
c.358C=
c.3623C= (p.Ser1208=)
c.3290C= (p.Ser1097=)
7g.117627586C>GCA368996286CFTRc.3517+16C>G (n.3517+16C>G)
c.*3247C>G (n.*3247C>G)
c.3350C>G (p.Ser1117Ter)
c.3533C>G (p.Ser1178Ter)
c.*186C>G (n.*186C>G)
c.*194C>G (n.*194C>G)
c.*1908C>G (n.*1908C>G)
c.3527C>G (p.Ser1176Ter)
c.*3357C>G (n.*3357C>G)
c.3107C>G (p.Ser1036Ter)
c.281C>G (p.Ser94Ter)
c.1320C>G (n.1320C>G)
c.115C>G
c.1167+16C>G
c.2315C>G (p.Ser772Ter)
c.3443C>G (p.Ser1148Ter)
c.358C>G
c.3623C>G (p.Ser1208Ter)
c.3290C>G (p.Ser1097Ter)
7g.117627586C>TCA368996288CFTRc.3517+16C>T (n.3517+16C>T)
c.*3247C>T (n.*3247C>T)
c.3350C>T (p.Ser1117Leu)
c.3533C>T (p.Ser1178Leu)
c.*186C>T (n.*186C>T)
c.*194C>T (n.*194C>T)
c.*1908C>T (n.*1908C>T)
c.3527C>T (p.Ser1176Leu)
c.*3357C>T (n.*3357C>T)
c.3107C>T (p.Ser1036Leu)
c.281C>T (p.Ser94Leu)
c.1320C>T (n.1320C>T)
c.115C>T
c.1167+16C>T
c.2315C>T (p.Ser772Leu)
c.3443C>T (p.Ser1148Leu)
c.358C>T
c.3623C>T (p.Ser1208Leu)
c.3290C>T (p.Ser1097Leu)
 COSMIC
7g.117627589_117627592delCA327226CFTRc.3517+19_3517+22del (n.3517+19_3517+22del)
c.*3250_*3253del (n.*3250_*3253del)
c.3353_3356del (p.Thr1118AsnfsTer12)
c.3536_3539del (p.Thr1179AsnfsTer12)
c.*189_*192del (n.*189_*192del)
c.*197_*200del (n.*197_*200del)
c.*1911_*1914del (n.*1911_*1914del)
c.3530_3533del (p.Thr1177AsnfsTer12)
c.*3360_*3363del (n.*3360_*3363del)
c.3110_3113del (p.Thr1037AsnfsTer12)
c.284_287del (p.Thr95AsnfsTer12)
c.1323_1326del (n.1323_1326del)
c.118_121del
c.1167+19_1167+22del
c.2318_2321del (p.Thr773AsnfsTer12)
c.3446_3449del (p.Thr1149AsnfsTer12)
c.361_364del
c.3626_3629del (p.Thr1209AsnfsTer12)
c.3293_3296del (p.Thr1098AsnfsTer12)
 ClinVar dbSNP
7g.117627587A=CA1737398636CFTRc.3517+17A= (n.3517+17A=)
c.*3248A= (n.*3248A=)
c.3351A= (p.Ser1117=)
c.3534A= (p.Ser1178=)
c.*187A= (n.*187A=)
c.*195A= (n.*195A=)
c.*1909A= (n.*1909A=)
c.3528A= (p.Ser1176=)
c.*3358A= (n.*3358A=)
c.3108A= (p.Ser1036=)
c.282A= (p.Ser94=)
c.1321A= (n.1321A=)
c.116A=
c.1167+17A=
c.2316A= (p.Ser772=)
c.3444A= (p.Ser1148=)
c.359A=
c.3624A= (p.Ser1208=)
c.3291A= (p.Ser1097=)
7g.117627587A>CCA457231200CFTRc.3517+17A>C (n.3517+17A>C)
c.*3248A>C (n.*3248A>C)
c.3351A>C (p.Ser1117=)
c.3534A>C (p.Ser1178=)
c.*187A>C (n.*187A>C)
c.*195A>C (n.*195A>C)
c.*1909A>C (n.*1909A>C)
c.3528A>C (p.Ser1176=)
c.*3358A>C (n.*3358A>C)
c.3108A>C (p.Ser1036=)
c.282A>C (p.Ser94=)
c.1321A>C (n.1321A>C)
c.116A>C
c.1167+17A>C
c.2316A>C (p.Ser772=)
c.3444A>C (p.Ser1148=)
c.359A>C
c.3624A>C (p.Ser1208=)
c.3291A>C (p.Ser1097=)
 COSMIC
7g.117627587A>GCA457231201CFTRc.3517+17A>G (n.3517+17A>G)
c.*3248A>G (n.*3248A>G)
c.3351A>G (p.Ser1117=)
c.3534A>G (p.Ser1178=)
c.*187A>G (n.*187A>G)
c.*195A>G (n.*195A>G)
c.*1909A>G (n.*1909A>G)
c.3528A>G (p.Ser1176=)
c.*3358A>G (n.*3358A>G)
c.3108A>G (p.Ser1036=)
c.282A>G (p.Ser94=)
c.1321A>G (n.1321A>G)
c.116A>G
c.1167+17A>G
c.2316A>G (p.Ser772=)
c.3444A>G (p.Ser1148=)
c.359A>G
c.3624A>G (p.Ser1208=)
c.3291A>G (p.Ser1097=)
 dbSNP gnomAD v4
7g.117627587A>TCA457231202CFTRc.3517+17A>T (n.3517+17A>T)
c.*3248A>T (n.*3248A>T)
c.3351A>T (p.Ser1117=)
c.3534A>T (p.Ser1178=)
c.*187A>T (n.*187A>T)
c.*195A>T (n.*195A>T)
c.*1909A>T (n.*1909A>T)
c.3528A>T (p.Ser1176=)
c.*3358A>T (n.*3358A>T)
c.3108A>T (p.Ser1036=)
c.282A>T (p.Ser94=)
c.1321A>T (n.1321A>T)
c.116A>T
c.1167+17A>T
c.2316A>T (p.Ser772=)
c.3444A>T (p.Ser1148=)
c.359A>T
c.3624A>T (p.Ser1208=)
c.3291A>T (p.Ser1097=)
7g.117627588A>CCA368996299CFTRc.3517+18A>C (n.3517+18A>C)
c.*3249A>C (n.*3249A>C)
c.3352A>C (p.Thr1118Pro)
c.3535A>C (p.Thr1179Pro)
c.*188A>C (n.*188A>C)
c.*196A>C (n.*196A>C)
c.*1910A>C (n.*1910A>C)
c.3529A>C (p.Thr1177Pro)
c.*3359A>C (n.*3359A>C)
c.3109A>C (p.Thr1037Pro)
c.283A>C (p.Thr95Pro)
c.1322A>C (n.1322A>C)
c.117A>C
c.1167+18A>C
c.2317A>C (p.Thr773Pro)
c.3445A>C (p.Thr1149Pro)
c.360A>C
c.3625A>C (p.Thr1209Pro)
c.3292A>C (p.Thr1098Pro)
7g.117627588A>GCA368996297CFTRc.3517+18A>G (n.3517+18A>G)
c.*3249A>G (n.*3249A>G)
c.3352A>G (p.Thr1118Ala)
c.3535A>G (p.Thr1179Ala)
c.*188A>G (n.*188A>G)
c.*196A>G (n.*196A>G)
c.*1910A>G (n.*1910A>G)
c.3529A>G (p.Thr1177Ala)
c.*3359A>G (n.*3359A>G)
c.3109A>G (p.Thr1037Ala)
c.283A>G (p.Thr95Ala)
c.1322A>G (n.1322A>G)
c.117A>G
c.1167+18A>G
c.2317A>G (p.Thr773Ala)
c.3445A>G (p.Thr1149Ala)
c.360A>G
c.3625A>G (p.Thr1209Ala)
c.3292A>G (p.Thr1098Ala)
7g.117627588A>TCA368996295CFTRc.3517+18A>T (n.3517+18A>T)
c.*3249A>T (n.*3249A>T)
c.3352A>T (p.Thr1118Ser)
c.3535A>T (p.Thr1179Ser)
c.*188A>T (n.*188A>T)
c.*196A>T (n.*196A>T)
c.*1910A>T (n.*1910A>T)
c.3529A>T (p.Thr1177Ser)
c.*3359A>T (n.*3359A>T)
c.3109A>T (p.Thr1037Ser)
c.283A>T (p.Thr95Ser)
c.1322A>T (n.1322A>T)
c.117A>T
c.1167+18A>T
c.2317A>T (p.Thr773Ser)
c.3445A>T (p.Thr1149Ser)
c.360A>T
c.3625A>T (p.Thr1209Ser)
c.3292A>T (p.Thr1098Ser)
7g.117627589C>ACA368996302CFTRc.3517+19C>A (n.3517+19C>A)
c.*3250C>A (n.*3250C>A)
c.3353C>A (p.Thr1118Asn)
c.3536C>A (p.Thr1179Asn)
c.*189C>A (n.*189C>A)
c.*197C>A (n.*197C>A)
c.*1911C>A (n.*1911C>A)
c.3530C>A (p.Thr1177Asn)
c.*3360C>A (n.*3360C>A)
c.3110C>A (p.Thr1037Asn)
c.284C>A (p.Thr95Asn)
c.1323C>A (n.1323C>A)
c.118C>A
c.1167+19C>A
c.2318C>A (p.Thr773Asn)
c.3446C>A (p.Thr1149Asn)
c.361C>A
c.3626C>A (p.Thr1209Asn)
c.3293C>A (p.Thr1098Asn)
7g.117627589C>GCA368996304CFTRc.3517+19C>G (n.3517+19C>G)
c.*3250C>G (n.*3250C>G)
c.3353C>G (p.Thr1118Ser)
c.3536C>G (p.Thr1179Ser)
c.*189C>G (n.*189C>G)
c.*197C>G (n.*197C>G)
c.*1911C>G (n.*1911C>G)
c.3530C>G (p.Thr1177Ser)
c.*3360C>G (n.*3360C>G)
c.3110C>G (p.Thr1037Ser)
c.284C>G (p.Thr95Ser)
c.1323C>G (n.1323C>G)
c.118C>G
c.1167+19C>G
c.2318C>G (p.Thr773Ser)
c.3446C>G (p.Thr1149Ser)
c.361C>G
c.3626C>G (p.Thr1209Ser)
c.3293C>G (p.Thr1098Ser)
7g.117627589C>TCA368996305CFTRc.3517+19C>T (n.3517+19C>T)
c.*3250C>T (n.*3250C>T)
c.3353C>T (p.Thr1118Ile)
c.3536C>T (p.Thr1179Ile)
c.*189C>T (n.*189C>T)
c.*197C>T (n.*197C>T)
c.*1911C>T (n.*1911C>T)
c.3530C>T (p.Thr1177Ile)
c.*3360C>T (n.*3360C>T)
c.3110C>T (p.Thr1037Ile)
c.284C>T (p.Thr95Ile)
c.1323C>T (n.1323C>T)
c.118C>T
c.1167+19C>T
c.2318C>T (p.Thr773Ile)
c.3446C>T (p.Thr1149Ile)
c.361C>T
c.3626C>T (p.Thr1209Ile)
c.3293C>T (p.Thr1098Ile)
 gnomAD v4
7g.117627590C>ACA457231203CFTRc.3517+20C>A (n.3517+20C>A)
c.*3251C>A (n.*3251C>A)
c.3354C>A (p.Thr1118=)
c.3537C>A (p.Thr1179=)
c.*190C>A (n.*190C>A)
c.*198C>A (n.*198C>A)
c.*1912C>A (n.*1912C>A)
c.3531C>A (p.Thr1177=)
c.*3361C>A (n.*3361C>A)
c.3111C>A (p.Thr1037=)
c.285C>A (p.Thr95=)
c.1324C>A (n.1324C>A)
c.119C>A
c.1167+20C>A
c.2319C>A (p.Thr773=)
c.3447C>A (p.Thr1149=)
c.362C>A
c.3627C>A (p.Thr1209=)
c.3294C>A (p.Thr1098=)
7g.117627590C=CA1737398638CFTRc.3517+20C= (n.3517+20C=)
c.*3251C= (n.*3251C=)
c.3354C= (p.Thr1118=)
c.3537C= (p.Thr1179=)
c.*190C= (n.*190C=)
c.*198C= (n.*198C=)
c.*1912C= (n.*1912C=)
c.3531C= (p.Thr1177=)
c.*3361C= (n.*3361C=)
c.3111C= (p.Thr1037=)
c.285C= (p.Thr95=)
c.1324C= (n.1324C=)
c.119C=
c.1167+20C=
c.2319C= (p.Thr773=)
c.3447C= (p.Thr1149=)
c.362C=
c.3627C= (p.Thr1209=)
c.3294C= (p.Thr1098=)
7g.117627590C>GCA457231204CFTRc.3517+20C>G (n.3517+20C>G)
c.*3251C>G (n.*3251C>G)
c.3354C>G (p.Thr1118=)
c.3537C>G (p.Thr1179=)
c.*190C>G (n.*190C>G)
c.*198C>G (n.*198C>G)
c.*1912C>G (n.*1912C>G)
c.3531C>G (p.Thr1177=)
c.*3361C>G (n.*3361C>G)
c.3111C>G (p.Thr1037=)
c.285C>G (p.Thr95=)
c.1324C>G (n.1324C>G)
c.119C>G
c.1167+20C>G
c.2319C>G (p.Thr773=)
c.3447C>G (p.Thr1149=)
c.362C>G
c.3627C>G (p.Thr1209=)
c.3294C>G (p.Thr1098=)
7g.117627590C>TCA4451494CFTRc.3517+20C>T (n.3517+20C>T)
c.*3251C>T (n.*3251C>T)
c.3354C>T (p.Thr1118=)
c.3537C>T (p.Thr1179=)
c.*190C>T (n.*190C>T)
c.*198C>T (n.*198C>T)
c.*1912C>T (n.*1912C>T)
c.3531C>T (p.Thr1177=)
c.*3361C>T (n.*3361C>T)
c.3111C>T (p.Thr1037=)
c.285C>T (p.Thr95=)
c.1324C>T (n.1324C>T)
c.119C>T
c.1167+20C>T
c.2319C>T (p.Thr773=)
c.3447C>T (p.Thr1149=)
c.362C>T
c.3627C>T (p.Thr1209=)
c.3294C>T (p.Thr1098=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627590_117627591delinsCACA1737398637CFTRc.3517+20_3517+21delinsCA (n.3517+20_3517+21delinsCA)
c.*3251_*3252delinsCA (n.*3251_*3252delinsCA)
c.3354_3355delinsCA (p.Thr1118=)
c.3537_3538delinsCA (p.Thr1179=)
c.*190_*191delinsCA (n.*190_*191delinsCA)
c.*198_*199delinsCA (n.*198_*199delinsCA)
c.*1912_*1913delinsCA (n.*1912_*1913delinsCA)
c.3531_3532delinsCA (p.Thr1177=)
c.*3361_*3362delinsCA (n.*3361_*3362delinsCA)
c.3111_3112delinsCA (p.Thr1037=)
c.285_286delinsCA (p.Thr95=)
c.1324_1325delinsCA (n.1324_1325delinsCA)
c.119_120delinsCA
c.1167+20_1167+21delinsCA
c.2319_2320delinsCA (p.Thr773=)
c.3447_3448delinsCA (p.Thr1149=)
c.362_363delinsCA
c.3627_3628delinsCA (p.Thr1209=)
c.3294_3295delinsCA (p.Thr1098=)
7g.117627591A>CCA368996307CFTRc.3517+21A>C (n.3517+21A>C)
c.*3252A>C (n.*3252A>C)
c.3355A>C (p.Lys1119Gln)
c.3538A>C (p.Lys1180Gln)
c.*191A>C (n.*191A>C)
c.*199A>C (n.*199A>C)
c.*1913A>C (n.*1913A>C)
c.3532A>C (p.Lys1178Gln)
c.*3362A>C (n.*3362A>C)
c.3112A>C (p.Lys1038Gln)
c.286A>C (p.Lys96Gln)
c.1325A>C (n.1325A>C)
c.120A>C
c.1167+21A>C
c.2320A>C (p.Lys774Gln)
c.3448A>C (p.Lys1150Gln)
c.363A>C
c.3628A>C (p.Lys1210Gln)
c.3295A>C (p.Lys1099Gln)
7g.117627591A>GCA368996309CFTRc.3517+21A>G (n.3517+21A>G)
c.*3252A>G (n.*3252A>G)
c.3355A>G (p.Lys1119Glu)
c.3538A>G (p.Lys1180Glu)
c.*191A>G (n.*191A>G)
c.*199A>G (n.*199A>G)
c.*1913A>G (n.*1913A>G)
c.3532A>G (p.Lys1178Glu)
c.*3362A>G (n.*3362A>G)
c.3112A>G (p.Lys1038Glu)
c.286A>G (p.Lys96Glu)
c.1325A>G (n.1325A>G)
c.120A>G
c.1167+21A>G
c.2320A>G (p.Lys774Glu)
c.3448A>G (p.Lys1150Glu)
c.363A>G
c.3628A>G (p.Lys1210Glu)
c.3295A>G (p.Lys1099Glu)
7g.117627591A>TCA368996311CFTRc.3517+21A>T (n.3517+21A>T)
c.*3252A>T (n.*3252A>T)
c.3355A>T (p.Lys1119Ter)
c.3538A>T (p.Lys1180Ter)
c.*191A>T (n.*191A>T)
c.*199A>T (n.*199A>T)
c.*1913A>T (n.*1913A>T)
c.3532A>T (p.Lys1178Ter)
c.*3362A>T (n.*3362A>T)
c.3112A>T (p.Lys1038Ter)
c.286A>T (p.Lys96Ter)
c.1325A>T (n.1325A>T)
c.120A>T
c.1167+21A>T
c.2320A>T (p.Lys774Ter)
c.3448A>T (p.Lys1150Ter)
c.363A>T
c.3628A>T (p.Lys1210Ter)
c.3295A>T (p.Lys1099Ter)
7g.117627593delCA327227CFTRc.3517+23del (n.3517+23del)
c.*3254del (n.*3254del)
c.3357del (p.Lys1119AsnfsTer12)
c.3540del (p.Lys1180AsnfsTer12)
c.*193del (n.*193del)
c.*201del (n.*201del)
c.*1915del (n.*1915del)
c.3534del (p.Lys1178AsnfsTer12)
c.*3364del (n.*3364del)
c.3114del (p.Lys1038AsnfsTer12)
c.288del (p.Lys96AsnfsTer12)
c.1327del (n.1327del)
c.122del
c.1167+23del
c.2322del (p.Lys774AsnfsTer12)
c.3450del (p.Lys1150AsnfsTer12)
c.365del
c.3630del (p.Lys1210AsnfsTer12)
c.3297del (p.Lys1099AsnfsTer12)
 ClinVar dbSNP
7g.117627592A>CCA368996315CFTRc.3517+22A>C (n.3517+22A>C)
c.*3253A>C (n.*3253A>C)
c.3356A>C (p.Lys1119Thr)
c.3539A>C (p.Lys1180Thr)
c.*192A>C (n.*192A>C)
c.*200A>C (n.*200A>C)
c.*1914A>C (n.*1914A>C)
c.3533A>C (p.Lys1178Thr)
c.*3363A>C (n.*3363A>C)
c.3113A>C (p.Lys1038Thr)
c.287A>C (p.Lys96Thr)
c.1326A>C (n.1326A>C)
c.121A>C
c.1167+22A>C
c.2321A>C (p.Lys774Thr)
c.3449A>C (p.Lys1150Thr)
c.364A>C
c.3629A>C (p.Lys1210Thr)
c.3296A>C (p.Lys1099Thr)
7g.117627592A>GCA368996316CFTRc.3517+22A>G (n.3517+22A>G)
c.*3253A>G (n.*3253A>G)
c.3356A>G (p.Lys1119Arg)
c.3539A>G (p.Lys1180Arg)
c.*192A>G (n.*192A>G)
c.*200A>G (n.*200A>G)
c.*1914A>G (n.*1914A>G)
c.3533A>G (p.Lys1178Arg)
c.*3363A>G (n.*3363A>G)
c.3113A>G (p.Lys1038Arg)
c.287A>G (p.Lys96Arg)
c.1326A>G (n.1326A>G)
c.121A>G
c.1167+22A>G
c.2321A>G (p.Lys774Arg)
c.3449A>G (p.Lys1150Arg)
c.364A>G
c.3629A>G (p.Lys1210Arg)
c.3296A>G (p.Lys1099Arg)
7g.117627592A>TCA368996317CFTRc.3517+22A>T (n.3517+22A>T)
c.*3253A>T (n.*3253A>T)
c.3356A>T (p.Lys1119Ile)
c.3539A>T (p.Lys1180Ile)
c.*192A>T (n.*192A>T)
c.*200A>T (n.*200A>T)
c.*1914A>T (n.*1914A>T)
c.3533A>T (p.Lys1178Ile)
c.*3363A>T (n.*3363A>T)
c.3113A>T (p.Lys1038Ile)
c.287A>T (p.Lys96Ile)
c.1326A>T (n.1326A>T)
c.121A>T
c.1167+22A>T
c.2321A>T (p.Lys774Ile)
c.3449A>T (p.Lys1150Ile)
c.364A>T
c.3629A>T (p.Lys1210Ile)
c.3296A>T (p.Lys1099Ile)
7g.117627592_117627607delCA2580076335CFTRc.3517+22_3517+37del (n.3517+22_3517+37del)
c.*3253_*3268del (n.*3253_*3268del)
c.3356_3371del (p.Lys1119ThrfsTer7)
c.3539_3554del (p.Lys1180ThrfsTer7)
c.*192_*207del (n.*192_*207del)
c.*200_*215del (n.*200_*215del)
c.*1914_*1929del (n.*1914_*1929del)
c.3533_3548del (p.Lys1178ThrfsTer7)
c.*3363_*3378del (n.*3363_*3378del)
c.3113_3128del (p.Lys1038ThrfsTer7)
c.287_302del (p.Lys96ThrfsTer7)
c.1326_1341del (n.1326_1341del)
c.121_136del
c.1167+22_1167+37del
c.2321_2336del (p.Lys774ThrfsTer7)
c.3449_3464del (p.Lys1150ThrfsTer7)
c.364_379del
c.3629_3644del (p.Lys1210ThrfsTer7)
c.3296_3311del (p.Lys1099ThrfsTer7)
 ClinVar
7g.117627593A>CCA368996318CFTRc.3517+23A>C (n.3517+23A>C)
c.*3254A>C (n.*3254A>C)
c.3357A>C (p.Lys1119Asn)
c.3540A>C (p.Lys1180Asn)
c.*193A>C (n.*193A>C)
c.*201A>C (n.*201A>C)
c.*1915A>C (n.*1915A>C)
c.3534A>C (p.Lys1178Asn)
c.*3364A>C (n.*3364A>C)
c.3114A>C (p.Lys1038Asn)
c.288A>C (p.Lys96Asn)
c.1327A>C (n.1327A>C)
c.122A>C
c.1167+23A>C
c.2322A>C (p.Lys774Asn)
c.3450A>C (p.Lys1150Asn)
c.365A>C
c.3630A>C (p.Lys1210Asn)
c.3297A>C (p.Lys1099Asn)
7g.117627593A>GCA457231205CFTRc.3517+23A>G (n.3517+23A>G)
c.*3254A>G (n.*3254A>G)
c.3357A>G (p.Lys1119=)
c.3540A>G (p.Lys1180=)
c.*193A>G (n.*193A>G)
c.*201A>G (n.*201A>G)
c.*1915A>G (n.*1915A>G)
c.3534A>G (p.Lys1178=)
c.*3364A>G (n.*3364A>G)
c.3114A>G (p.Lys1038=)
c.288A>G (p.Lys96=)
c.1327A>G (n.1327A>G)
c.122A>G
c.1167+23A>G
c.2322A>G (p.Lys774=)
c.3450A>G (p.Lys1150=)
c.365A>G
c.3630A>G (p.Lys1210=)
c.3297A>G (p.Lys1099=)
7g.117627593A>TCA368996319CFTRc.3517+23A>T (n.3517+23A>T)
c.*3254A>T (n.*3254A>T)
c.3357A>T (p.Lys1119Asn)
c.3540A>T (p.Lys1180Asn)
c.*193A>T (n.*193A>T)
c.*201A>T (n.*201A>T)
c.*1915A>T (n.*1915A>T)
c.3534A>T (p.Lys1178Asn)
c.*3364A>T (n.*3364A>T)
c.3114A>T (p.Lys1038Asn)
c.288A>T (p.Lys96Asn)
c.1327A>T (n.1327A>T)
c.122A>T
c.1167+23A>T
c.2322A>T (p.Lys774Asn)
c.3450A>T (p.Lys1150Asn)
c.365A>T
c.3630A>T (p.Lys1210Asn)
c.3297A>T (p.Lys1099Asn)
7g.117627594C>ACA368996324CFTRc.3517+24C>A (n.3517+24C>A)
c.*3255C>A (n.*3255C>A)
c.3358C>A (p.Pro1120Thr)
c.3541C>A (p.Pro1181Thr)
c.*194C>A (n.*194C>A)
c.*202C>A (n.*202C>A)
c.*1916C>A (n.*1916C>A)
c.3535C>A (p.Pro1179Thr)
c.*3365C>A (n.*3365C>A)
c.3115C>A (p.Pro1039Thr)
c.289C>A (p.Pro97Thr)
c.1328C>A (n.1328C>A)
c.123C>A
c.1167+24C>A
c.2323C>A (p.Pro775Thr)
c.3451C>A (p.Pro1151Thr)
c.366C>A
c.3631C>A (p.Pro1211Thr)
c.3298C>A (p.Pro1100Thr)
7g.117627594C>GCA368996326CFTRc.3517+24C>G (n.3517+24C>G)
c.*3255C>G (n.*3255C>G)
c.3358C>G (p.Pro1120Ala)
c.3541C>G (p.Pro1181Ala)
c.*194C>G (n.*194C>G)
c.*202C>G (n.*202C>G)
c.*1916C>G (n.*1916C>G)
c.3535C>G (p.Pro1179Ala)
c.*3365C>G (n.*3365C>G)
c.3115C>G (p.Pro1039Ala)
c.289C>G (p.Pro97Ala)
c.1328C>G (n.1328C>G)
c.123C>G
c.1167+24C>G
c.2323C>G (p.Pro775Ala)
c.3451C>G (p.Pro1151Ala)
c.366C>G
c.3631C>G (p.Pro1211Ala)
c.3298C>G (p.Pro1100Ala)
7g.117627594C>TCA368996322CFTRc.3517+24C>T (n.3517+24C>T)
c.*3255C>T (n.*3255C>T)
c.3358C>T (p.Pro1120Ser)
c.3541C>T (p.Pro1181Ser)
c.*194C>T (n.*194C>T)
c.*202C>T (n.*202C>T)
c.*1916C>T (n.*1916C>T)
c.3535C>T (p.Pro1179Ser)
c.*3365C>T (n.*3365C>T)
c.3115C>T (p.Pro1039Ser)
c.289C>T (p.Pro97Ser)
c.1328C>T (n.1328C>T)
c.123C>T
c.1167+24C>T
c.2323C>T (p.Pro775Ser)
c.3451C>T (p.Pro1151Ser)
c.366C>T
c.3631C>T (p.Pro1211Ser)
c.3298C>T (p.Pro1100Ser)
7g.117627595C>ACA4451495CFTRc.3517+25C>A (n.3517+25C>A)
c.*3256C>A (n.*3256C>A)
c.3359C>A (p.Pro1120Gln)
c.3542C>A (p.Pro1181Gln)
c.*195C>A (n.*195C>A)
c.*203C>A (n.*203C>A)
c.*1917C>A (n.*1917C>A)
c.3536C>A (p.Pro1179Gln)
c.*3366C>A (n.*3366C>A)
c.3116C>A (p.Pro1039Gln)
c.290C>A (p.Pro97Gln)
c.1329C>A (n.1329C>A)
c.124C>A
c.1167+25C>A
c.2324C>A (p.Pro775Gln)
c.3452C>A (p.Pro1151Gln)
c.367C>A
c.3632C>A (p.Pro1211Gln)
c.3299C>A (p.Pro1100Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117627595C=CA1737398639CFTRc.3517+25C= (n.3517+25C=)
c.*3256C= (n.*3256C=)
c.3359C= (p.Pro1120=)
c.3542C= (p.Pro1181=)
c.*195C= (n.*195C=)
c.*203C= (n.*203C=)
c.*1917C= (n.*1917C=)
c.3536C= (p.Pro1179=)
c.*3366C= (n.*3366C=)
c.3116C= (p.Pro1039=)
c.290C= (p.Pro97=)
c.1329C= (n.1329C=)
c.124C=
c.1167+25C=
c.2324C= (p.Pro775=)
c.3452C= (p.Pro1151=)
c.367C=
c.3632C= (p.Pro1211=)
c.3299C= (p.Pro1100=)
7g.117627595C>GCA368996329CFTRc.3517+25C>G (n.3517+25C>G)
c.*3256C>G (n.*3256C>G)
c.3359C>G (p.Pro1120Arg)
c.3542C>G (p.Pro1181Arg)
c.*195C>G (n.*195C>G)
c.*203C>G (n.*203C>G)
c.*1917C>G (n.*1917C>G)
c.3536C>G (p.Pro1179Arg)
c.*3366C>G (n.*3366C>G)
c.3116C>G (p.Pro1039Arg)
c.290C>G (p.Pro97Arg)
c.1329C>G (n.1329C>G)
c.124C>G
c.1167+25C>G
c.2324C>G (p.Pro775Arg)
c.3452C>G (p.Pro1151Arg)
c.367C>G
c.3632C>G (p.Pro1211Arg)
c.3299C>G (p.Pro1100Arg)
 gnomAD v4
7g.117627595C>TCA368996331CFTRc.3517+25C>T (n.3517+25C>T)
c.*3256C>T (n.*3256C>T)
c.3359C>T (p.Pro1120Leu)
c.3542C>T (p.Pro1181Leu)
c.*195C>T (n.*195C>T)
c.*203C>T (n.*203C>T)
c.*1917C>T (n.*1917C>T)
c.3536C>T (p.Pro1179Leu)
c.*3366C>T (n.*3366C>T)
c.3116C>T (p.Pro1039Leu)
c.290C>T (p.Pro97Leu)
c.1329C>T (n.1329C>T)
c.124C>T
c.1167+25C>T
c.2324C>T (p.Pro775Leu)
c.3452C>T (p.Pro1151Leu)
c.367C>T
c.3632C>T (p.Pro1211Leu)
c.3299C>T (p.Pro1100Leu)
 gnomAD v4
7g.117627595_117627596insGTACATTTTATTATAATATACCGGTTCA2684620079CFTRc.3517+25_3517+26insGTACATTTTATTATAATATACCGGTT (n.3517+25_3517+26insGTACATTTTATTATAATATACCGGTT)
c.*3256_*3257insGTACATTTTATTATAATATACCGGTT (n.*3256_*3257insGTACATTTTATTATAATATACCGGTT)
c.3359_3360insGTACATTTTATTATAATATACCGGTT (p.Lys1122IlefsTer4)
c.3542_3543insGTACATTTTATTATAATATACCGGTT (p.Lys1183IlefsTer4)
c.*195_*196insGTACATTTTATTATAATATACCGGTT (n.*195_*196insGTACATTTTATTATAATATACCGGTT)
c.*203_*204insGTACATTTTATTATAATATACCGGTT (n.*203_*204insGTACATTTTATTATAATATACCGGTT)
c.*1917_*1918insGTACATTTTATTATAATATACCGGTT (n.*1917_*1918insGTACATTTTATTATAATATACCGGTT)
c.3536_3537insGTACATTTTATTATAATATACCGGTT (p.Lys1181IlefsTer4)
c.*3366_*3367insGTACATTTTATTATAATATACCGGTT (n.*3366_*3367insGTACATTTTATTATAATATACCGGTT)
c.3116_3117insGTACATTTTATTATAATATACCGGTT (p.Lys1041IlefsTer4)
c.290_291insGTACATTTTATTATAATATACCGGTT (p.Lys99IlefsTer4)
c.1329_1330insGTACATTTTATTATAATATACCGGTT (n.1329_1330insGTACATTTTATTATAATATACCGGTT)
c.124_125insGTACATTTTATTATAATATACCGGTT
c.1167+25_1167+26insGTACATTTTATTATAATATACCGGTT
c.2324_2325insGTACATTTTATTATAATATACCGGTT (p.Lys777IlefsTer4)
c.3452_3453insGTACATTTTATTATAATATACCGGTT (p.Lys1153IlefsTer4)
c.367_368insGTACATTTTATTATAATATACCGGTT
c.3632_3633insGTACATTTTATTATAATATACCGGTT (p.Lys1213IlefsTer4)
c.3299_3300insGTACATTTTATTATAATATACCGGTT (p.Lys1102IlefsTer4)
 gnomAD v4
7g.117627596A=CA1737398640CFTRc.3517+26A= (n.3517+26A=)
c.*3257A= (n.*3257A=)
c.3360A= (p.Pro1120=)
c.3543A= (p.Pro1181=)
c.*196A= (n.*196A=)
c.*204A= (n.*204A=)
c.*1918A= (n.*1918A=)
c.3537A= (p.Pro1179=)
c.*3367A= (n.*3367A=)
c.3117A= (p.Pro1039=)
c.291A= (p.Pro97=)
c.1330A= (n.1330A=)
c.125A=
c.1167+26A=
c.2325A= (p.Pro775=)
c.3453A= (p.Pro1151=)
c.368A=
c.3633A= (p.Pro1211=)
c.3300A= (p.Pro1100=)
7g.117627596A>CCA457231206CFTRc.3517+26A>C (n.3517+26A>C)
c.*3257A>C (n.*3257A>C)
c.3360A>C (p.Pro1120=)
c.3543A>C (p.Pro1181=)
c.*196A>C (n.*196A>C)
c.*204A>C (n.*204A>C)
c.*1918A>C (n.*1918A>C)
c.3537A>C (p.Pro1179=)
c.*3367A>C (n.*3367A>C)
c.3117A>C (p.Pro1039=)
c.291A>C (p.Pro97=)
c.1330A>C (n.1330A>C)
c.125A>C
c.1167+26A>C
c.2325A>C (p.Pro775=)
c.3453A>C (p.Pro1151=)
c.368A>C
c.3633A>C (p.Pro1211=)
c.3300A>C (p.Pro1100=)
7g.117627596A>GCA457231207CFTRc.3517+26A>G (n.3517+26A>G)
c.*3257A>G (n.*3257A>G)
c.3360A>G (p.Pro1120=)
c.3543A>G (p.Pro1181=)
c.*196A>G (n.*196A>G)
c.*204A>G (n.*204A>G)
c.*1918A>G (n.*1918A>G)
c.3537A>G (p.Pro1179=)
c.*3367A>G (n.*3367A>G)
c.3117A>G (p.Pro1039=)
c.291A>G (p.Pro97=)
c.1330A>G (n.1330A>G)
c.125A>G
c.1167+26A>G
c.2325A>G (p.Pro775=)
c.3453A>G (p.Pro1151=)
c.368A>G
c.3633A>G (p.Pro1211=)
c.3300A>G (p.Pro1100=)
 ClinVar dbSNP gnomAD v4
7g.117627596A>TCA457231208CFTRc.3517+26A>T (n.3517+26A>T)
c.*3257A>T (n.*3257A>T)
c.3360A>T (p.Pro1120=)
c.3543A>T (p.Pro1181=)
c.*196A>T (n.*196A>T)
c.*204A>T (n.*204A>T)
c.*1918A>T (n.*1918A>T)
c.3537A>T (p.Pro1179=)
c.*3367A>T (n.*3367A>T)
c.3117A>T (p.Pro1039=)
c.291A>T (p.Pro97=)
c.1330A>T (n.1330A>T)
c.125A>T
c.1167+26A>T
c.2325A>T (p.Pro775=)
c.3453A>T (p.Pro1151=)
c.368A>T
c.3633A>T (p.Pro1211=)
c.3300A>T (p.Pro1100=)
7g.117627597T>ACA368996333CFTRc.3517+27T>A (n.3517+27T>A)
c.*3258T>A (n.*3258T>A)
c.3361T>A (p.Tyr1121Asn)
c.3544T>A (p.Tyr1182Asn)
c.*197T>A (n.*197T>A)
c.*205T>A (n.*205T>A)
c.*1919T>A (n.*1919T>A)
c.3538T>A (p.Tyr1180Asn)
c.*3368T>A (n.*3368T>A)
c.3118T>A (p.Tyr1040Asn)
c.292T>A (p.Tyr98Asn)
c.1331T>A (n.1331T>A)
c.126T>A
c.1167+27T>A
c.2326T>A (p.Tyr776Asn)
c.3454T>A (p.Tyr1152Asn)
c.369T>A
c.3634T>A (p.Tyr1212Asn)
c.3301T>A (p.Tyr1101Asn)
7g.117627597T>CCA4451496CFTRc.3517+27T>C (n.3517+27T>C)
c.*3258T>C (n.*3258T>C)
c.3361T>C (p.Tyr1121His)
c.3544T>C (p.Tyr1182His)
c.*197T>C (n.*197T>C)
c.*205T>C (n.*205T>C)
c.*1919T>C (n.*1919T>C)
c.3538T>C (p.Tyr1180His)
c.*3368T>C (n.*3368T>C)
c.3118T>C (p.Tyr1040His)
c.292T>C (p.Tyr98His)
c.1331T>C (n.1331T>C)
c.126T>C
c.1167+27T>C
c.2326T>C (p.Tyr776His)
c.3454T>C (p.Tyr1152His)
c.369T>C
c.3634T>C (p.Tyr1212His)
c.3301T>C (p.Tyr1101His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117627597T>GCA368996335CFTRc.3517+27T>G (n.3517+27T>G)
c.*3258T>G (n.*3258T>G)
c.3361T>G (p.Tyr1121Asp)
c.3544T>G (p.Tyr1182Asp)
c.*197T>G (n.*197T>G)
c.*205T>G (n.*205T>G)
c.*1919T>G (n.*1919T>G)
c.3538T>G (p.Tyr1180Asp)
c.*3368T>G (n.*3368T>G)
c.3118T>G (p.Tyr1040Asp)
c.292T>G (p.Tyr98Asp)
c.1331T>G (n.1331T>G)
c.126T>G
c.1167+27T>G
c.2326T>G (p.Tyr776Asp)
c.3454T>G (p.Tyr1152Asp)
c.369T>G
c.3634T>G (p.Tyr1212Asp)
c.3301T>G (p.Tyr1101Asp)
7g.117627597T=CA1737398641CFTRc.3517+27T= (n.3517+27T=)
c.*3258T= (n.*3258T=)
c.3361T= (p.Tyr1121=)
c.3544T= (p.Tyr1182=)
c.*197T= (n.*197T=)
c.*205T= (n.*205T=)
c.*1919T= (n.*1919T=)
c.3538T= (p.Tyr1180=)
c.*3368T= (n.*3368T=)
c.3118T= (p.Tyr1040=)
c.292T= (p.Tyr98=)
c.1331T= (n.1331T=)
c.126T=
c.1167+27T=
c.2326T= (p.Tyr776=)
c.3454T= (p.Tyr1152=)
c.369T=
c.3634T= (p.Tyr1212=)
c.3301T= (p.Tyr1101=)
7g.117627598A>CCA368996341CFTRc.3517+28A>C (n.3517+28A>C)
c.*3259A>C (n.*3259A>C)
c.3362A>C (p.Tyr1121Ser)
c.3545A>C (p.Tyr1182Ser)
c.*198A>C (n.*198A>C)
c.*206A>C (n.*206A>C)
c.*1920A>C (n.*1920A>C)
c.3539A>C (p.Tyr1180Ser)
c.*3369A>C (n.*3369A>C)
c.3119A>C (p.Tyr1040Ser)
c.293A>C (p.Tyr98Ser)
c.1332A>C (n.1332A>C)
c.127A>C
c.1167+28A>C
c.2327A>C (p.Tyr776Ser)
c.3455A>C (p.Tyr1152Ser)
c.370A>C
c.3635A>C (p.Tyr1212Ser)
c.3302A>C (p.Tyr1101Ser)
7g.117627598A>GCA368996338CFTRc.3517+28A>G (n.3517+28A>G)
c.*3259A>G (n.*3259A>G)
c.3362A>G (p.Tyr1121Cys)
c.3545A>G (p.Tyr1182Cys)
c.*198A>G (n.*198A>G)
c.*206A>G (n.*206A>G)
c.*1920A>G (n.*1920A>G)
c.3539A>G (p.Tyr1180Cys)
c.*3369A>G (n.*3369A>G)
c.3119A>G (p.Tyr1040Cys)
c.293A>G (p.Tyr98Cys)
c.1332A>G (n.1332A>G)
c.127A>G
c.1167+28A>G
c.2327A>G (p.Tyr776Cys)
c.3455A>G (p.Tyr1152Cys)
c.370A>G
c.3635A>G (p.Tyr1212Cys)
c.3302A>G (p.Tyr1101Cys)
7g.117627598A>TCA368996340CFTRc.3517+28A>T (n.3517+28A>T)
c.*3259A>T (n.*3259A>T)
c.3362A>T (p.Tyr1121Phe)
c.3545A>T (p.Tyr1182Phe)
c.*198A>T (n.*198A>T)
c.*206A>T (n.*206A>T)
c.*1920A>T (n.*1920A>T)
c.3539A>T (p.Tyr1180Phe)
c.*3369A>T (n.*3369A>T)
c.3119A>T (p.Tyr1040Phe)
c.293A>T (p.Tyr98Phe)
c.1332A>T (n.1332A>T)
c.127A>T
c.1167+28A>T
c.2327A>T (p.Tyr776Phe)
c.3455A>T (p.Tyr1152Phe)
c.370A>T
c.3635A>T (p.Tyr1212Phe)
c.3302A>T (p.Tyr1101Phe)
7g.117627598_117627599delinsACCA1737398642CFTRc.3517+28_3517+29delinsAC (n.3517+28_3517+29delinsAC)
c.*3259_*3260delinsAC (n.*3259_*3260delinsAC)
c.3362_3363delinsAC (p.Tyr1121=)
c.3545_3546delinsAC (p.Tyr1182=)
c.*198_*199delinsAC (n.*198_*199delinsAC)
c.*206_*207delinsAC (n.*206_*207delinsAC)
c.*1920_*1921delinsAC (n.*1920_*1921delinsAC)
c.3539_3540delinsAC (p.Tyr1180=)
c.*3369_*3370delinsAC (n.*3369_*3370delinsAC)
c.3119_3120delinsAC (p.Tyr1040=)
c.293_294delinsAC (p.Tyr98=)
c.1332_1333delinsAC (n.1332_1333delinsAC)
c.127_128delinsAC
c.1167+28_1167+29delinsAC
c.2327_2328delinsAC (p.Tyr776=)
c.3455_3456delinsAC (p.Tyr1152=)
c.370_371delinsAC
c.3635_3636delinsAC (p.Tyr1212=)
c.3302_3303delinsAC (p.Tyr1101=)
7g.117627599delCA1139660069CFTRc.3517+29del (n.3517+29del)
c.*3260del (n.*3260del)
c.3363del (p.Tyr1121Ter)
c.3546del (p.Tyr1182Ter)
c.*199del (n.*199del)
c.*207del (n.*207del)
c.*1921del (n.*1921del)
c.3540del (p.Tyr1180Ter)
c.*3370del (n.*3370del)
c.3120del (p.Tyr1040Ter)
c.294del (p.Tyr98Ter)
c.1333del (n.1333del)
c.128del
c.1167+29del
c.2328del (p.Tyr776Ter)
c.3456del (p.Tyr1152Ter)
c.371del
c.3636del (p.Tyr1212Ter)
c.3303del (p.Tyr1101Ter)
 ClinVar dbSNP
7g.117627599C>ACA368996342CFTRc.3517+29C>A (n.3517+29C>A)
c.*3260C>A (n.*3260C>A)
c.3363C>A (p.Tyr1121Ter)
c.3546C>A (p.Tyr1182Ter)
c.*199C>A (n.*199C>A)
c.*207C>A (n.*207C>A)
c.*1921C>A (n.*1921C>A)
c.3540C>A (p.Tyr1180Ter)
c.*3370C>A (n.*3370C>A)
c.3120C>A (p.Tyr1040Ter)
c.294C>A (p.Tyr98Ter)
c.1333C>A (n.1333C>A)
c.128C>A
c.1167+29C>A
c.2328C>A (p.Tyr776Ter)
c.3456C>A (p.Tyr1152Ter)
c.371C>A
c.3636C>A (p.Tyr1212Ter)
c.3303C>A (p.Tyr1101Ter)
 dbSNP
7g.117627599C=CA1737398643CFTRc.3517+29C= (n.3517+29C=)
c.*3260C= (n.*3260C=)
c.3363C= (p.Tyr1121=)
c.3546C= (p.Tyr1182=)
c.*199C= (n.*199C=)
c.*207C= (n.*207C=)
c.*1921C= (n.*1921C=)
c.3540C= (p.Tyr1180=)
c.*3370C= (n.*3370C=)
c.3120C= (p.Tyr1040=)
c.294C= (p.Tyr98=)
c.1333C= (n.1333C=)
c.128C=
c.1167+29C=
c.2328C= (p.Tyr776=)
c.3456C= (p.Tyr1152=)
c.371C=
c.3636C= (p.Tyr1212=)
c.3303C= (p.Tyr1101=)
7g.117627599C>GCA327228CFTRc.3517+29C>G (n.3517+29C>G)
c.*3260C>G (n.*3260C>G)
c.3363C>G (p.Tyr1121Ter)
c.3546C>G (p.Tyr1182Ter)
c.*199C>G (n.*199C>G)
c.*207C>G (n.*207C>G)
c.*1921C>G (n.*1921C>G)
c.3540C>G (p.Tyr1180Ter)
c.*3370C>G (n.*3370C>G)
c.3120C>G (p.Tyr1040Ter)
c.294C>G (p.Tyr98Ter)
c.1333C>G (n.1333C>G)
c.128C>G
c.1167+29C>G
c.2328C>G (p.Tyr776Ter)
c.3456C>G (p.Tyr1152Ter)
c.371C>G
c.3636C>G (p.Tyr1212Ter)
c.3303C>G (p.Tyr1101Ter)
 ClinVar dbSNP gnomAD v4
7g.117627599C>TCA457231209CFTRc.3517+29C>T (n.3517+29C>T)
c.*3260C>T (n.*3260C>T)
c.3363C>T (p.Tyr1121=)
c.3546C>T (p.Tyr1182=)
c.*199C>T (n.*199C>T)
c.*207C>T (n.*207C>T)
c.*1921C>T (n.*1921C>T)
c.3540C>T (p.Tyr1180=)
c.*3370C>T (n.*3370C>T)
c.3120C>T (p.Tyr1040=)
c.294C>T (p.Tyr98=)
c.1333C>T (n.1333C>T)
c.128C>T
c.1167+29C>T
c.2328C>T (p.Tyr776=)
c.3456C>T (p.Tyr1152=)
c.371C>T
c.3636C>T (p.Tyr1212=)
c.3303C>T (p.Tyr1101=)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117627600A>CCA368996346CFTRc.3517+30A>C (n.3517+30A>C)
c.*3261A>C (n.*3261A>C)
c.3364A>C (p.Lys1122Gln)
c.3547A>C (p.Lys1183Gln)
c.*200A>C (n.*200A>C)
c.*208A>C (n.*208A>C)
c.*1922A>C (n.*1922A>C)
c.3541A>C (p.Lys1181Gln)
c.*3371A>C (n.*3371A>C)
c.3121A>C (p.Lys1041Gln)
c.295A>C (p.Lys99Gln)
c.1334A>C (n.1334A>C)
c.129A>C
c.1167+30A>C
c.2329A>C (p.Lys777Gln)
c.3457A>C (p.Lys1153Gln)
c.372A>C
c.3637A>C (p.Lys1213Gln)
c.3304A>C (p.Lys1102Gln)
7g.117627600A>GCA368996347CFTRc.3517+30A>G (n.3517+30A>G)
c.*3261A>G (n.*3261A>G)
c.3364A>G (p.Lys1122Glu)
c.3547A>G (p.Lys1183Glu)
c.*200A>G (n.*200A>G)
c.*208A>G (n.*208A>G)
c.*1922A>G (n.*1922A>G)
c.3541A>G (p.Lys1181Glu)
c.*3371A>G (n.*3371A>G)
c.3121A>G (p.Lys1041Glu)
c.295A>G (p.Lys99Glu)
c.1334A>G (n.1334A>G)
c.129A>G
c.1167+30A>G
c.2329A>G (p.Lys777Glu)
c.3457A>G (p.Lys1153Glu)
c.372A>G
c.3637A>G (p.Lys1213Glu)
c.3304A>G (p.Lys1102Glu)
 gnomAD v4
7g.117627600A>TCA368996349CFTRc.3517+30A>T (n.3517+30A>T)
c.*3261A>T (n.*3261A>T)
c.3364A>T (p.Lys1122Ter)
c.3547A>T (p.Lys1183Ter)
c.*200A>T (n.*200A>T)
c.*208A>T (n.*208A>T)
c.*1922A>T (n.*1922A>T)
c.3541A>T (p.Lys1181Ter)
c.*3371A>T (n.*3371A>T)
c.3121A>T (p.Lys1041Ter)
c.295A>T (p.Lys99Ter)
c.1334A>T (n.1334A>T)
c.129A>T
c.1167+30A>T
c.2329A>T (p.Lys777Ter)
c.3457A>T (p.Lys1153Ter)
c.372A>T
c.3637A>T (p.Lys1213Ter)
c.3304A>T (p.Lys1102Ter)
 ClinVar
7g.117627601A>CCA368996353CFTRc.3517+31A>C (n.3517+31A>C)
c.*3262A>C (n.*3262A>C)
c.3365A>C (p.Lys1122Thr)
c.3548A>C (p.Lys1183Thr)
c.*201A>C (n.*201A>C)
c.*209A>C (n.*209A>C)
c.*1923A>C (n.*1923A>C)
c.3542A>C (p.Lys1181Thr)
c.*3372A>C (n.*3372A>C)
c.3122A>C (p.Lys1041Thr)
c.296A>C (p.Lys99Thr)
c.1335A>C (n.1335A>C)
c.130A>C
c.1167+31A>C
c.2330A>C (p.Lys777Thr)
c.3458A>C (p.Lys1153Thr)
c.373A>C
c.3638A>C (p.Lys1213Thr)
c.3305A>C (p.Lys1102Thr)
7g.117627601A>GCA368996351CFTRc.3517+31A>G (n.3517+31A>G)
c.*3262A>G (n.*3262A>G)
c.3365A>G (p.Lys1122Arg)
c.3548A>G (p.Lys1183Arg)
c.*201A>G (n.*201A>G)
c.*209A>G (n.*209A>G)
c.*1923A>G (n.*1923A>G)
c.3542A>G (p.Lys1181Arg)
c.*3372A>G (n.*3372A>G)
c.3122A>G (p.Lys1041Arg)
c.296A>G (p.Lys99Arg)
c.1335A>G (n.1335A>G)
c.130A>G
c.1167+31A>G
c.2330A>G (p.Lys777Arg)
c.3458A>G (p.Lys1153Arg)
c.373A>G
c.3638A>G (p.Lys1213Arg)
c.3305A>G (p.Lys1102Arg)
7g.117627601A>TCA368996352CFTRc.3517+31A>T (n.3517+31A>T)
c.*3262A>T (n.*3262A>T)
c.3365A>T (p.Lys1122Met)
c.3548A>T (p.Lys1183Met)
c.*201A>T (n.*201A>T)
c.*209A>T (n.*209A>T)
c.*1923A>T (n.*1923A>T)
c.3542A>T (p.Lys1181Met)
c.*3372A>T (n.*3372A>T)
c.3122A>T (p.Lys1041Met)
c.296A>T (p.Lys99Met)
c.1335A>T (n.1335A>T)
c.130A>T
c.1167+31A>T
c.2330A>T (p.Lys777Met)
c.3458A>T (p.Lys1153Met)
c.373A>T
c.3638A>T (p.Lys1213Met)
c.3305A>T (p.Lys1102Met)
7g.117627602G>ACA457231210CFTRc.3517+32G>A (n.3517+32G>A)
c.*3263G>A (n.*3263G>A)
c.3366G>A (p.Lys1122=)
c.3549G>A (p.Lys1183=)
c.*202G>A (n.*202G>A)
c.*210G>A (n.*210G>A)
c.*1924G>A (n.*1924G>A)
c.3543G>A (p.Lys1181=)
c.*3373G>A (n.*3373G>A)
c.3123G>A (p.Lys1041=)
c.297G>A (p.Lys99=)
c.1336G>A (n.1336G>A)
c.131G>A
c.1167+32G>A
c.2331G>A (p.Lys777=)
c.3459G>A (p.Lys1153=)
c.374G>A
c.3639G>A (p.Lys1213=)
c.3306G>A (p.Lys1102=)
7g.117627602G>CCA368996354CFTRc.3517+32G>C (n.3517+32G>C)
c.*3263G>C (n.*3263G>C)
c.3366G>C (p.Lys1122Asn)
c.3549G>C (p.Lys1183Asn)
c.*202G>C (n.*202G>C)
c.*210G>C (n.*210G>C)
c.*1924G>C (n.*1924G>C)
c.3543G>C (p.Lys1181Asn)
c.*3373G>C (n.*3373G>C)
c.3123G>C (p.Lys1041Asn)
c.297G>C (p.Lys99Asn)
c.1336G>C (n.1336G>C)
c.131G>C
c.1167+32G>C
c.2331G>C (p.Lys777Asn)
c.3459G>C (p.Lys1153Asn)
c.374G>C
c.3639G>C (p.Lys1213Asn)
c.3306G>C (p.Lys1102Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.117627602G=CA1737398644CFTRc.3517+32G= (n.3517+32G=)
c.*3263G= (n.*3263G=)
c.3366G= (p.Lys1122=)
c.3549G= (p.Lys1183=)
c.*202G= (n.*202G=)
c.*210G= (n.*210G=)
c.*1924G= (n.*1924G=)
c.3543G= (p.Lys1181=)
c.*3373G= (n.*3373G=)
c.3123G= (p.Lys1041=)
c.297G= (p.Lys99=)
c.1336G= (n.1336G=)
c.131G=
c.1167+32G=
c.2331G= (p.Lys777=)
c.3459G= (p.Lys1153=)
c.374G=
c.3639G= (p.Lys1213=)
c.3306G= (p.Lys1102=)
7g.117627602G>TCA368996356CFTRc.3517+32G>T (n.3517+32G>T)
c.*3263G>T (n.*3263G>T)
c.3366G>T (p.Lys1122Asn)
c.3549G>T (p.Lys1183Asn)
c.*202G>T (n.*202G>T)
c.*210G>T (n.*210G>T)
c.*1924G>T (n.*1924G>T)
c.3543G>T (p.Lys1181Asn)
c.*3373G>T (n.*3373G>T)
c.3123G>T (p.Lys1041Asn)
c.297G>T (p.Lys99Asn)
c.1336G>T (n.1336G>T)
c.131G>T
c.1167+32G>T
c.2331G>T (p.Lys777Asn)
c.3459G>T (p.Lys1153Asn)
c.374G>T
c.3639G>T (p.Lys1213Asn)
c.3306G>T (p.Lys1102Asn)
7g.117627603A>CCA368996359CFTRc.3517+33A>C (n.3517+33A>C)
c.*3264A>C (n.*3264A>C)
c.3367A>C (p.Asn1123His)
c.3550A>C (p.Asn1184His)
c.*203A>C (n.*203A>C)
c.*211A>C (n.*211A>C)
c.*1925A>C (n.*1925A>C)
c.3544A>C (p.Asn1182His)
c.*3374A>C (n.*3374A>C)
c.3124A>C (p.Asn1042His)
c.298A>C (p.Asn100His)
c.1337A>C (n.1337A>C)
c.132A>C
c.1167+33A>C
c.2332A>C (p.Asn778His)
c.3460A>C (p.Asn1154His)
c.375A>C
c.3640A>C (p.Asn1214His)
c.3307A>C (p.Asn1103His)
7g.117627603A>GCA368996361CFTRc.3517+33A>G (n.3517+33A>G)
c.*3264A>G (n.*3264A>G)
c.3367A>G (p.Asn1123Asp)
c.3550A>G (p.Asn1184Asp)
c.*203A>G (n.*203A>G)
c.*211A>G (n.*211A>G)
c.*1925A>G (n.*1925A>G)
c.3544A>G (p.Asn1182Asp)
c.*3374A>G (n.*3374A>G)
c.3124A>G (p.Asn1042Asp)
c.298A>G (p.Asn100Asp)
c.1337A>G (n.1337A>G)
c.132A>G
c.1167+33A>G
c.2332A>G (p.Asn778Asp)
c.3460A>G (p.Asn1154Asp)
c.375A>G
c.3640A>G (p.Asn1214Asp)
c.3307A>G (p.Asn1103Asp)
7g.117627603A>TCA368996363CFTRc.3517+33A>T (n.3517+33A>T)
c.*3264A>T (n.*3264A>T)
c.3367A>T (p.Asn1123Tyr)
c.3550A>T (p.Asn1184Tyr)
c.*203A>T (n.*203A>T)
c.*211A>T (n.*211A>T)
c.*1925A>T (n.*1925A>T)
c.3544A>T (p.Asn1182Tyr)
c.*3374A>T (n.*3374A>T)
c.3124A>T (p.Asn1042Tyr)
c.298A>T (p.Asn100Tyr)
c.1337A>T (n.1337A>T)
c.132A>T
c.1167+33A>T
c.2332A>T (p.Asn778Tyr)
c.3460A>T (p.Asn1154Tyr)
c.375A>T
c.3640A>T (p.Asn1214Tyr)
c.3307A>T (p.Asn1103Tyr)
7g.117627604A=CA1737398645CFTRc.3517+34A= (n.3517+34A=)
c.*3265A= (n.*3265A=)
c.3368A= (p.Asn1123=)
c.3551A= (p.Asn1184=)
c.*204A= (n.*204A=)
c.*212A= (n.*212A=)
c.*1926A= (n.*1926A=)
c.3545A= (p.Asn1182=)
c.*3375A= (n.*3375A=)
c.3125A= (p.Asn1042=)
c.299A= (p.Asn100=)
c.1338A= (n.1338A=)
c.133A=
c.1167+34A=
c.2333A= (p.Asn778=)
c.3461A= (p.Asn1154=)
c.376A=
c.3641A= (p.Asn1214=)
c.3308A= (p.Asn1103=)
7g.117627604A>CCA368996365CFTRc.3517+34A>C (n.3517+34A>C)
c.*3265A>C (n.*3265A>C)
c.3368A>C (p.Asn1123Thr)
c.3551A>C (p.Asn1184Thr)
c.*204A>C (n.*204A>C)
c.*212A>C (n.*212A>C)
c.*1926A>C (n.*1926A>C)
c.3545A>C (p.Asn1182Thr)
c.*3375A>C (n.*3375A>C)
c.3125A>C (p.Asn1042Thr)
c.299A>C (p.Asn100Thr)
c.1338A>C (n.1338A>C)
c.133A>C
c.1167+34A>C
c.2333A>C (p.Asn778Thr)
c.3461A>C (p.Asn1154Thr)
c.376A>C
c.3641A>C (p.Asn1214Thr)
c.3308A>C (p.Asn1103Thr)
7g.117627604A>GCA368996367CFTRc.3517+34A>G (n.3517+34A>G)
c.*3265A>G (n.*3265A>G)
c.3368A>G (p.Asn1123Ser)
c.3551A>G (p.Asn1184Ser)
c.*204A>G (n.*204A>G)
c.*212A>G (n.*212A>G)
c.*1926A>G (n.*1926A>G)
c.3545A>G (p.Asn1182Ser)
c.*3375A>G (n.*3375A>G)
c.3125A>G (p.Asn1042Ser)
c.299A>G (p.Asn100Ser)
c.1338A>G (n.1338A>G)
c.133A>G
c.1167+34A>G
c.2333A>G (p.Asn778Ser)
c.3461A>G (p.Asn1154Ser)
c.376A>G
c.3641A>G (p.Asn1214Ser)
c.3308A>G (p.Asn1103Ser)
7g.117627604A>TCA368996368CFTRc.3517+34A>T (n.3517+34A>T)
c.*3265A>T (n.*3265A>T)
c.3368A>T (p.Asn1123Ile)
c.3551A>T (p.Asn1184Ile)
c.*204A>T (n.*204A>T)
c.*212A>T (n.*212A>T)
c.*1926A>T (n.*1926A>T)
c.3545A>T (p.Asn1182Ile)
c.*3375A>T (n.*3375A>T)
c.3125A>T (p.Asn1042Ile)
c.299A>T (p.Asn100Ile)
c.1338A>T (n.1338A>T)
c.133A>T
c.1167+34A>T
c.2333A>T (p.Asn778Ile)
c.3461A>T (p.Asn1154Ile)
c.376A>T
c.3641A>T (p.Asn1214Ile)
c.3308A>T (p.Asn1103Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117627605delCA2579000254CFTRc.3517+35del (n.3517+35del)
c.*3266del (n.*3266del)
c.3369del (p.Asn1123LysfsTer8)
c.3552del (p.Asn1184LysfsTer8)
c.*205del (n.*205del)
c.*213del (n.*213del)
c.*1927del (n.*1927del)
c.3546del (p.Asn1182LysfsTer8)
c.*3376del (n.*3376del)
c.3126del (p.Asn1042LysfsTer8)
c.300del (p.Asn100LysfsTer8)
c.1339del (n.1339del)
c.134del
c.1167+35del
c.2334del (p.Asn778LysfsTer8)
c.3462del (p.Asn1154LysfsTer8)
c.377del
c.3642del (p.Asn1214LysfsTer8)
c.3309del (p.Asn1103LysfsTer8)
7g.117627605T>ACA368996369CFTRc.3517+35T>A (n.3517+35T>A)
c.*3266T>A (n.*3266T>A)
c.3369T>A (p.Asn1123Lys)
c.3552T>A (p.Asn1184Lys)
c.*205T>A (n.*205T>A)
c.*213T>A (n.*213T>A)
c.*1927T>A (n.*1927T>A)
c.3546T>A (p.Asn1182Lys)
c.*3376T>A (n.*3376T>A)
c.3126T>A (p.Asn1042Lys)
c.300T>A (p.Asn100Lys)
c.1339T>A (n.1339T>A)
c.134T>A
c.1167+35T>A
c.2334T>A (p.Asn778Lys)
c.3462T>A (p.Asn1154Lys)
c.377T>A
c.3642T>A (p.Asn1214Lys)
c.3309T>A (p.Asn1103Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.117627605T>CCA457231213CFTRc.3517+35T>C (n.3517+35T>C)
c.*3266T>C (n.*3266T>C)
c.3369T>C (p.Asn1123=)
c.3552T>C (p.Asn1184=)
c.*205T>C (n.*205T>C)
c.*213T>C (n.*213T>C)
c.*1927T>C (n.*1927T>C)
c.3546T>C (p.Asn1182=)
c.*3376T>C (n.*3376T>C)
c.3126T>C (p.Asn1042=)
c.300T>C (p.Asn100=)
c.1339T>C (n.1339T>C)
c.134T>C
c.1167+35T>C
c.2334T>C (p.Asn778=)
c.3462T>C (p.Asn1154=)
c.377T>C
c.3642T>C (p.Asn1214=)
c.3309T>C (p.Asn1103=)
 ClinVar
7g.117627605T>GCA368996371CFTRc.3517+35T>G (n.3517+35T>G)
c.*3266T>G (n.*3266T>G)
c.3369T>G (p.Asn1123Lys)
c.3552T>G (p.Asn1184Lys)
c.*205T>G (n.*205T>G)
c.*213T>G (n.*213T>G)
c.*1927T>G (n.*1927T>G)
c.3546T>G (p.Asn1182Lys)
c.*3376T>G (n.*3376T>G)
c.3126T>G (p.Asn1042Lys)
c.300T>G (p.Asn100Lys)
c.1339T>G (n.1339T>G)
c.134T>G
c.1167+35T>G
c.2334T>G (p.Asn778Lys)
c.3462T>G (p.Asn1154Lys)
c.377T>G
c.3642T>G (p.Asn1214Lys)
c.3309T>G (p.Asn1103Lys)
7g.117627605T=CA1737398646CFTRc.3517+35T= (n.3517+35T=)
c.*3266T= (n.*3266T=)
c.3369T= (p.Asn1123=)
c.3552T= (p.Asn1184=)
c.*205T= (n.*205T=)
c.*213T= (n.*213T=)
c.*1927T= (n.*1927T=)
c.3546T= (p.Asn1182=)
c.*3376T= (n.*3376T=)
c.3126T= (p.Asn1042=)
c.300T= (p.Asn100=)
c.1339T= (n.1339T=)
c.134T=
c.1167+35T=
c.2334T= (p.Asn778=)
c.3462T= (p.Asn1154=)
c.377T=
c.3642T= (p.Asn1214=)
c.3309T= (p.Asn1103=)
7g.117627606G>ACA368996373CFTRc.3517+36G>A (n.3517+36G>A)
c.*3267G>A (n.*3267G>A)
c.3370G>A (p.Gly1124Ser)
c.3553G>A (p.Gly1185Ser)
c.*206G>A (n.*206G>A)
c.*214G>A (n.*214G>A)
c.*1928G>A (n.*1928G>A)
c.3547G>A (p.Gly1183Ser)
c.*3377G>A (n.*3377G>A)
c.3127G>A (p.Gly1043Ser)
c.301G>A (p.Gly101Ser)
c.1340G>A (n.1340G>A)
c.135G>A
c.1167+36G>A
c.2335G>A (p.Gly779Ser)
c.3463G>A (p.Gly1155Ser)
c.378G>A
c.3643G>A (p.Gly1215Ser)
c.3310G>A (p.Gly1104Ser)
 gnomAD v4
7g.117627606G>CCA368996374CFTRc.3517+36G>C (n.3517+36G>C)
c.*3267G>C (n.*3267G>C)
c.3370G>C (p.Gly1124Arg)
c.3553G>C (p.Gly1185Arg)
c.*206G>C (n.*206G>C)
c.*214G>C (n.*214G>C)
c.*1928G>C (n.*1928G>C)
c.3547G>C (p.Gly1183Arg)
c.*3377G>C (n.*3377G>C)
c.3127G>C (p.Gly1043Arg)
c.301G>C (p.Gly101Arg)
c.1340G>C (n.1340G>C)
c.135G>C
c.1167+36G>C
c.2335G>C (p.Gly779Arg)
c.3463G>C (p.Gly1155Arg)
c.378G>C
c.3643G>C (p.Gly1215Arg)
c.3310G>C (p.Gly1104Arg)
7g.117627606G>TCA368996376CFTRc.3517+36G>T (n.3517+36G>T)
c.*3267G>T (n.*3267G>T)
c.3370G>T (p.Gly1124Cys)
c.3553G>T (p.Gly1185Cys)
c.*206G>T (n.*206G>T)
c.*214G>T (n.*214G>T)
c.*1928G>T (n.*1928G>T)
c.3547G>T (p.Gly1183Cys)
c.*3377G>T (n.*3377G>T)
c.3127G>T (p.Gly1043Cys)
c.301G>T (p.Gly101Cys)
c.1340G>T (n.1340G>T)
c.135G>T
c.1167+36G>T
c.2335G>T (p.Gly779Cys)
c.3463G>T (p.Gly1155Cys)
c.378G>T
c.3643G>T (p.Gly1215Cys)
c.3310G>T (p.Gly1104Cys)
7g.117627607G>ACA164976563CFTRc.3517+37G>A (n.3517+37G>A)
c.*3268G>A (n.*3268G>A)
c.3371G>A (p.Gly1124Asp)
c.3554G>A (p.Gly1185Asp)
c.*207G>A (n.*207G>A)
c.*215G>A (n.*215G>A)
c.*1929G>A (n.*1929G>A)
c.3548G>A (p.Gly1183Asp)
c.*3378G>A (n.*3378G>A)
c.3128G>A (p.Gly1043Asp)
c.302G>A (p.Gly101Asp)
c.1341G>A (n.1341G>A)
c.136G>A
c.1167+37G>A
c.2336G>A (p.Gly779Asp)
c.3464G>A (p.Gly1155Asp)
c.379G>A
c.3644G>A (p.Gly1215Asp)
c.3311G>A (p.Gly1104Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117627607G>CCA368996380CFTRc.3517+37G>C (n.3517+37G>C)
c.*3268G>C (n.*3268G>C)
c.3371G>C (p.Gly1124Ala)
c.3554G>C (p.Gly1185Ala)
c.*207G>C (n.*207G>C)
c.*215G>C (n.*215G>C)
c.*1929G>C (n.*1929G>C)
c.3548G>C (p.Gly1183Ala)
c.*3378G>C (n.*3378G>C)
c.3128G>C (p.Gly1043Ala)
c.302G>C (p.Gly101Ala)
c.1341G>C (n.1341G>C)
c.136G>C
c.1167+37G>C
c.2336G>C (p.Gly779Ala)
c.3464G>C (p.Gly1155Ala)
c.379G>C
c.3644G>C (p.Gly1215Ala)
c.3311G>C (p.Gly1104Ala)
7g.117627607G=CA1737398647CFTRc.3517+37G= (n.3517+37G=)
c.*3268G= (n.*3268G=)
c.3371G= (p.Gly1124=)
c.3554G= (p.Gly1185=)
c.*207G= (n.*207G=)
c.*215G= (n.*215G=)
c.*1929G= (n.*1929G=)
c.3548G= (p.Gly1183=)
c.*3378G= (n.*3378G=)
c.3128G= (p.Gly1043=)
c.302G= (p.Gly101=)
c.1341G= (n.1341G=)
c.136G=
c.1167+37G=
c.2336G= (p.Gly779=)
c.3464G= (p.Gly1155=)
c.379G=
c.3644G= (p.Gly1215=)
c.3311G= (p.Gly1104=)
7g.117627607G>TCA368996379CFTRc.3517+37G>T (n.3517+37G>T)
c.*3268G>T (n.*3268G>T)
c.3371G>T (p.Gly1124Val)
c.3554G>T (p.Gly1185Val)
c.*207G>T (n.*207G>T)
c.*215G>T (n.*215G>T)
c.*1929G>T (n.*1929G>T)
c.3548G>T (p.Gly1183Val)
c.*3378G>T (n.*3378G>T)
c.3128G>T (p.Gly1043Val)
c.302G>T (p.Gly101Val)
c.1341G>T (n.1341G>T)
c.136G>T
c.1167+37G>T
c.2336G>T (p.Gly779Val)
c.3464G>T (p.Gly1155Val)
c.379G>T
c.3644G>T (p.Gly1215Val)
c.3311G>T (p.Gly1104Val)
7g.117627608C>ACA457231215CFTRc.3517+38C>A (n.3517+38C>A)
c.*3269C>A (n.*3269C>A)
c.3372C>A (p.Gly1124=)
c.3555C>A (p.Gly1185=)
c.*208C>A (n.*208C>A)
c.*216C>A (n.*216C>A)
c.*1930C>A (n.*1930C>A)
c.3549C>A (p.Gly1183=)
c.*3379C>A (n.*3379C>A)
c.3129C>A (p.Gly1043=)
c.303C>A (p.Gly101=)
c.1342C>A (n.1342C>A)
c.137C>A
c.1167+38C>A
c.2337C>A (p.Gly779=)
c.3465C>A (p.Gly1155=)
c.380C>A
c.3645C>A (p.Gly1215=)
c.3312C>A (p.Gly1104=)
 ClinVar
7g.117627608C>GCA457231217CFTRc.3517+38C>G (n.3517+38C>G)
c.*3269C>G (n.*3269C>G)
c.3372C>G (p.Gly1124=)
c.3555C>G (p.Gly1185=)
c.*208C>G (n.*208C>G)
c.*216C>G (n.*216C>G)
c.*1930C>G (n.*1930C>G)
c.3549C>G (p.Gly1183=)
c.*3379C>G (n.*3379C>G)
c.3129C>G (p.Gly1043=)
c.303C>G (p.Gly101=)
c.1342C>G (n.1342C>G)
c.137C>G
c.1167+38C>G
c.2337C>G (p.Gly779=)
c.3465C>G (p.Gly1155=)
c.380C>G
c.3645C>G (p.Gly1215=)
c.3312C>G (p.Gly1104=)
7g.117627608C>TCA457231219CFTRc.3517+38C>T (n.3517+38C>T)
c.*3269C>T (n.*3269C>T)
c.3372C>T (p.Gly1124=)
c.3555C>T (p.Gly1185=)
c.*208C>T (n.*208C>T)
c.*216C>T (n.*216C>T)
c.*1930C>T (n.*1930C>T)
c.3549C>T (p.Gly1183=)
c.*3379C>T (n.*3379C>T)
c.3129C>T (p.Gly1043=)
c.303C>T (p.Gly101=)
c.1342C>T (n.1342C>T)
c.137C>T
c.1167+38C>T
c.2337C>T (p.Gly779=)
c.3465C>T (p.Gly1155=)
c.380C>T
c.3645C>T (p.Gly1215=)
c.3312C>T (p.Gly1104=)
 ClinVar dbSNP
7g.117627609C>ACA368996382CFTRc.3517+39C>A (n.3517+39C>A)
c.*3270C>A (n.*3270C>A)
c.3373C>A (p.Gln1125Lys)
c.3556C>A (p.Gln1186Lys)
c.*209C>A (n.*209C>A)
c.*217C>A (n.*217C>A)
c.*1931C>A (n.*1931C>A)
c.3550C>A (p.Gln1184Lys)
c.*3380C>A (n.*3380C>A)
c.3130C>A (p.Gln1044Lys)
c.304C>A (p.Gln102Lys)
c.1343C>A (n.1343C>A)
c.138C>A
c.1167+39C>A
c.2338C>A (p.Gln780Lys)
c.3466C>A (p.Gln1156Lys)
c.381C>A
c.3646C>A (p.Gln1216Lys)
c.3313C>A (p.Gln1105Lys)
7g.117627609C=CA1737398648CFTRc.3517+39C= (n.3517+39C=)
c.*3270C= (n.*3270C=)
c.3373C= (p.Gln1125=)
c.3556C= (p.Gln1186=)
c.*209C= (n.*209C=)
c.*217C= (n.*217C=)
c.*1931C= (n.*1931C=)
c.3550C= (p.Gln1184=)
c.*3380C= (n.*3380C=)
c.3130C= (p.Gln1044=)
c.304C= (p.Gln102=)
c.1343C= (n.1343C=)
c.138C=
c.1167+39C=
c.2338C= (p.Gln780=)
c.3466C= (p.Gln1156=)
c.381C=
c.3646C= (p.Gln1216=)
c.3313C= (p.Gln1105=)
7g.117627609C>GCA368996384CFTRc.3517+39C>G (n.3517+39C>G)
c.*3270C>G (n.*3270C>G)
c.3373C>G (p.Gln1125Glu)
c.3556C>G (p.Gln1186Glu)
c.*209C>G (n.*209C>G)
c.*217C>G (n.*217C>G)
c.*1931C>G (n.*1931C>G)
c.3550C>G (p.Gln1184Glu)
c.*3380C>G (n.*3380C>G)
c.3130C>G (p.Gln1044Glu)
c.304C>G (p.Gln102Glu)
c.1343C>G (n.1343C>G)
c.138C>G
c.1167+39C>G
c.2338C>G (p.Gln780Glu)
c.3466C>G (p.Gln1156Glu)
c.381C>G
c.3646C>G (p.Gln1216Glu)
c.3313C>G (p.Gln1105Glu)
7g.117627609C>TCA327230CFTRc.3517+39C>T (n.3517+39C>T)
c.*3270C>T (n.*3270C>T)
c.3373C>T (p.Gln1125Ter)
c.3556C>T (p.Gln1186Ter)
c.*209C>T (n.*209C>T)
c.*217C>T (n.*217C>T)
c.*1931C>T (n.*1931C>T)
c.3550C>T (p.Gln1184Ter)
c.*3380C>T (n.*3380C>T)
c.3130C>T (p.Gln1044Ter)
c.304C>T (p.Gln102Ter)
c.1343C>T (n.1343C>T)
c.138C>T
c.1167+39C>T
c.2338C>T (p.Gln780Ter)
c.3466C>T (p.Gln1156Ter)
c.381C>T
c.3646C>T (p.Gln1216Ter)
c.3313C>T (p.Gln1105Ter)
 ClinVar dbSNP
7g.117627610A>CCA368996388CFTRc.3517+40A>C (n.3517+40A>C)
c.*3271A>C (n.*3271A>C)
c.3374A>C (p.Gln1125Pro)
c.3557A>C (p.Gln1186Pro)
c.*210A>C (n.*210A>C)
c.*218A>C (n.*218A>C)
c.*1932A>C (n.*1932A>C)
c.3551A>C (p.Gln1184Pro)
c.*3381A>C (n.*3381A>C)
c.3131A>C (p.Gln1044Pro)
c.305A>C (p.Gln102Pro)
c.1344A>C (n.1344A>C)
c.139A>C
c.1167+40A>C
c.2339A>C (p.Gln780Pro)
c.3467A>C (p.Gln1156Pro)
c.382A>C
c.3647A>C (p.Gln1216Pro)
c.3314A>C (p.Gln1105Pro)
7g.117627610A>GCA368996389CFTRc.3517+40A>G (n.3517+40A>G)
c.*3271A>G (n.*3271A>G)
c.3374A>G (p.Gln1125Arg)
c.3557A>G (p.Gln1186Arg)
c.*210A>G (n.*210A>G)
c.*218A>G (n.*218A>G)
c.*1932A>G (n.*1932A>G)
c.3551A>G (p.Gln1184Arg)
c.*3381A>G (n.*3381A>G)
c.3131A>G (p.Gln1044Arg)
c.305A>G (p.Gln102Arg)
c.1344A>G (n.1344A>G)
c.139A>G
c.1167+40A>G
c.2339A>G (p.Gln780Arg)
c.3467A>G (p.Gln1156Arg)
c.382A>G
c.3647A>G (p.Gln1216Arg)
c.3314A>G (p.Gln1105Arg)
7g.117627610A>TCA368996391CFTRc.3517+40A>T (n.3517+40A>T)
c.*3271A>T (n.*3271A>T)
c.3374A>T (p.Gln1125Leu)
c.3557A>T (p.Gln1186Leu)
c.*210A>T (n.*210A>T)
c.*218A>T (n.*218A>T)
c.*1932A>T (n.*1932A>T)
c.3551A>T (p.Gln1184Leu)
c.*3381A>T (n.*3381A>T)
c.3131A>T (p.Gln1044Leu)
c.305A>T (p.Gln102Leu)
c.1344A>T (n.1344A>T)
c.139A>T
c.1167+40A>T
c.2339A>T (p.Gln780Leu)
c.3467A>T (p.Gln1156Leu)
c.382A>T
c.3647A>T (p.Gln1216Leu)
c.3314A>T (p.Gln1105Leu)
7g.117627611delCA2695208376CFTRc.3517+41del (n.3517+41del)
c.*3272del (n.*3272del)
c.3375del (p.Gln1125HisfsTer6)
c.3558del (p.Gln1186HisfsTer6)
c.*211del (n.*211del)
c.*219del (n.*219del)
c.*1933del (n.*1933del)
c.3552del (p.Gln1184HisfsTer6)
c.*3382del (n.*3382del)
c.3132del (p.Gln1044HisfsTer6)
c.306del (p.Gln102HisfsTer6)
c.1345del (n.1345del)
c.140del
c.1167+41del
c.2340del (p.Gln780HisfsTer6)
c.3468del (p.Gln1156HisfsTer6)
c.383del
c.3648del (p.Gln1216HisfsTer6)
c.3315del (p.Gln1105HisfsTer6)
7g.117627611A=CA1737398649CFTRc.3517+41A= (n.3517+41A=)
c.*3272A= (n.*3272A=)
c.3375A= (p.Gln1125=)
c.3558A= (p.Gln1186=)
c.*211A= (n.*211A=)
c.*219A= (n.*219A=)
c.*1933A= (n.*1933A=)
c.3552A= (p.Gln1184=)
c.*3382A= (n.*3382A=)
c.3132A= (p.Gln1044=)
c.306A= (p.Gln102=)
c.1345A= (n.1345A=)
c.140A=
c.1167+41A=
c.2340A= (p.Gln780=)
c.3468A= (p.Gln1156=)
c.383A=
c.3648A= (p.Gln1216=)
c.3315A= (p.Gln1105=)
7g.117627611A>CCA368996393CFTRc.3517+41A>C (n.3517+41A>C)
c.*3272A>C (n.*3272A>C)
c.3375A>C (p.Gln1125His)
c.3558A>C (p.Gln1186His)
c.*211A>C (n.*211A>C)
c.*219A>C (n.*219A>C)
c.*1933A>C (n.*1933A>C)
c.3552A>C (p.Gln1184His)
c.*3382A>C (n.*3382A>C)
c.3132A>C (p.Gln1044His)
c.306A>C (p.Gln102His)
c.1345A>C (n.1345A>C)
c.140A>C
c.1167+41A>C
c.2340A>C (p.Gln780His)
c.3468A>C (p.Gln1156His)
c.383A>C
c.3648A>C (p.Gln1216His)
c.3315A>C (p.Gln1105His)
 dbSNP gnomAD v2 gnomAD v4
7g.117627611A>GCA260235CFTRc.3517+41A>G (n.3517+41A>G)
c.*3272A>G (n.*3272A>G)
c.3375A>G (p.Gln1125=)
c.3558A>G (p.Gln1186=)
c.*211A>G (n.*211A>G)
c.*219A>G (n.*219A>G)
c.*1933A>G (n.*1933A>G)
c.3552A>G (p.Gln1184=)
c.*3382A>G (n.*3382A>G)
c.3132A>G (p.Gln1044=)
c.306A>G (p.Gln102=)
c.1345A>G (n.1345A>G)
c.140A>G
c.1167+41A>G
c.2340A>G (p.Gln780=)
c.3468A>G (p.Gln1156=)
c.383A>G
c.3648A>G (p.Gln1216=)
c.3315A>G (p.Gln1105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627611A>TCA368996396CFTRc.3517+41A>T (n.3517+41A>T)
c.*3272A>T (n.*3272A>T)
c.3375A>T (p.Gln1125His)
c.3558A>T (p.Gln1186His)
c.*211A>T (n.*211A>T)
c.*219A>T (n.*219A>T)
c.*1933A>T (n.*1933A>T)
c.3552A>T (p.Gln1184His)
c.*3382A>T (n.*3382A>T)
c.3132A>T (p.Gln1044His)
c.306A>T (p.Gln102His)
c.1345A>T (n.1345A>T)
c.140A>T
c.1167+41A>T
c.2340A>T (p.Gln780His)
c.3468A>T (p.Gln1156His)
c.383A>T
c.3648A>T (p.Gln1216His)
c.3315A>T (p.Gln1105His)
7g.117627612C>ACA4451497CFTRc.3517+42C>A (n.3517+42C>A)
c.*3273C>A (n.*3273C>A)
c.3376C>A (p.Leu1126Ile)
c.3559C>A (p.Leu1187Ile)
c.*212C>A (n.*212C>A)
c.*220C>A (n.*220C>A)
c.*1934C>A (n.*1934C>A)
c.3553C>A (p.Leu1185Ile)
c.*3383C>A (n.*3383C>A)
c.3133C>A (p.Leu1045Ile)
c.307C>A (p.Leu103Ile)
c.1346C>A (n.1346C>A)
c.141C>A
c.1167+42C>A
c.2341C>A (p.Leu781Ile)
c.3469C>A (p.Leu1157Ile)
c.384C>A
c.3649C>A (p.Leu1217Ile)
c.3316C>A (p.Leu1106Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117627612C=CA1737398650CFTRc.3517+42C= (n.3517+42C=)
c.*3273C= (n.*3273C=)
c.3376C= (p.Leu1126=)
c.3559C= (p.Leu1187=)
c.*212C= (n.*212C=)
c.*220C= (n.*220C=)
c.*1934C= (n.*1934C=)
c.3553C= (p.Leu1185=)
c.*3383C= (n.*3383C=)
c.3133C= (p.Leu1045=)
c.307C= (p.Leu103=)
c.1346C= (n.1346C=)
c.141C=
c.1167+42C=
c.2341C= (p.Leu781=)
c.3469C= (p.Leu1157=)
c.384C=
c.3649C= (p.Leu1217=)
c.3316C= (p.Leu1106=)
7g.117627612C>GCA4451498CFTRc.3517+42C>G (n.3517+42C>G)
c.*3273C>G (n.*3273C>G)
c.3376C>G (p.Leu1126Val)
c.3559C>G (p.Leu1187Val)
c.*212C>G (n.*212C>G)
c.*220C>G (n.*220C>G)
c.*1934C>G (n.*1934C>G)
c.3553C>G (p.Leu1185Val)
c.*3383C>G (n.*3383C>G)
c.3133C>G (p.Leu1045Val)
c.307C>G (p.Leu103Val)
c.1346C>G (n.1346C>G)
c.141C>G
c.1167+42C>G
c.2341C>G (p.Leu781Val)
c.3469C>G (p.Leu1157Val)
c.384C>G
c.3649C>G (p.Leu1217Val)
c.3316C>G (p.Leu1106Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117627612C>TCA368996400CFTRc.3517+42C>T (n.3517+42C>T)
c.*3273C>T (n.*3273C>T)
c.3376C>T (p.Leu1126Phe)
c.3559C>T (p.Leu1187Phe)
c.*212C>T (n.*212C>T)
c.*220C>T (n.*220C>T)
c.*1934C>T (n.*1934C>T)
c.3553C>T (p.Leu1185Phe)
c.*3383C>T (n.*3383C>T)
c.3133C>T (p.Leu1045Phe)
c.307C>T (p.Leu103Phe)
c.1346C>T (n.1346C>T)
c.141C>T
c.1167+42C>T
c.2341C>T (p.Leu781Phe)
c.3469C>T (p.Leu1157Phe)
c.384C>T
c.3649C>T (p.Leu1217Phe)
c.3316C>T (p.Leu1106Phe)
 ClinVar
7g.117627613T>ACA368996407CFTRc.3517+43T>A (n.3517+43T>A)
c.*3274T>A (n.*3274T>A)
c.3377T>A (p.Leu1126His)
c.3560T>A (p.Leu1187His)
c.*213T>A (n.*213T>A)
c.*221T>A (n.*221T>A)
c.*1935T>A (n.*1935T>A)
c.3554T>A (p.Leu1185His)
c.*3384T>A (n.*3384T>A)
c.3134T>A (p.Leu1045His)
c.308T>A (p.Leu103His)
c.1347T>A (n.1347T>A)
c.142T>A
c.1167+43T>A
c.2342T>A (p.Leu781His)
c.3470T>A (p.Leu1157His)
c.385T>A
c.3650T>A (p.Leu1217His)
c.3317T>A (p.Leu1106His)
7g.117627613T>CCA368996405CFTRc.3517+43T>C (n.3517+43T>C)
c.*3274T>C (n.*3274T>C)
c.3377T>C (p.Leu1126Pro)
c.3560T>C (p.Leu1187Pro)
c.*213T>C (n.*213T>C)
c.*221T>C (n.*221T>C)
c.*1935T>C (n.*1935T>C)
c.3554T>C (p.Leu1185Pro)
c.*3384T>C (n.*3384T>C)
c.3134T>C (p.Leu1045Pro)
c.308T>C (p.Leu103Pro)
c.1347T>C (n.1347T>C)
c.142T>C
c.1167+43T>C
c.2342T>C (p.Leu781Pro)
c.3470T>C (p.Leu1157Pro)
c.385T>C
c.3650T>C (p.Leu1217Pro)
c.3317T>C (p.Leu1106Pro)
7g.117627613T>GCA368996402CFTRc.3517+43T>G (n.3517+43T>G)
c.*3274T>G (n.*3274T>G)
c.3377T>G (p.Leu1126Arg)
c.3560T>G (p.Leu1187Arg)
c.*213T>G (n.*213T>G)
c.*221T>G (n.*221T>G)
c.*1935T>G (n.*1935T>G)
c.3554T>G (p.Leu1185Arg)
c.*3384T>G (n.*3384T>G)
c.3134T>G (p.Leu1045Arg)
c.308T>G (p.Leu103Arg)
c.1347T>G (n.1347T>G)
c.142T>G
c.1167+43T>G
c.2342T>G (p.Leu781Arg)
c.3470T>G (p.Leu1157Arg)
c.385T>G
c.3650T>G (p.Leu1217Arg)
c.3317T>G (p.Leu1106Arg)
7g.117627614C>ACA457231222CFTRc.3517+44C>A (n.3517+44C>A)
c.*3275C>A (n.*3275C>A)
c.3378C>A (p.Leu1126=)
c.3561C>A (p.Leu1187=)
c.*214C>A (n.*214C>A)
c.*222C>A (n.*222C>A)
c.*1936C>A (n.*1936C>A)
c.3555C>A (p.Leu1185=)
c.*3385C>A (n.*3385C>A)
c.3135C>A (p.Leu1045=)
c.309C>A (p.Leu103=)
c.1348C>A (n.1348C>A)
c.143C>A
c.1167+44C>A
c.2343C>A (p.Leu781=)
c.3471C>A (p.Leu1157=)
c.386C>A
c.3651C>A (p.Leu1217=)
c.3318C>A (p.Leu1106=)
7g.117627614C>GCA457231223CFTRc.3517+44C>G (n.3517+44C>G)
c.*3275C>G (n.*3275C>G)
c.3378C>G (p.Leu1126=)
c.3561C>G (p.Leu1187=)
c.*214C>G (n.*214C>G)
c.*222C>G (n.*222C>G)
c.*1936C>G (n.*1936C>G)
c.3555C>G (p.Leu1185=)
c.*3385C>G (n.*3385C>G)
c.3135C>G (p.Leu1045=)
c.309C>G (p.Leu103=)
c.1348C>G (n.1348C>G)
c.143C>G
c.1167+44C>G
c.2343C>G (p.Leu781=)
c.3471C>G (p.Leu1157=)
c.386C>G
c.3651C>G (p.Leu1217=)
c.3318C>G (p.Leu1106=)
7g.117627614C>TCA457231224CFTRc.3517+44C>T (n.3517+44C>T)
c.*3275C>T (n.*3275C>T)
c.3378C>T (p.Leu1126=)
c.3561C>T (p.Leu1187=)
c.*214C>T (n.*214C>T)
c.*222C>T (n.*222C>T)
c.*1936C>T (n.*1936C>T)
c.3555C>T (p.Leu1185=)
c.*3385C>T (n.*3385C>T)
c.3135C>T (p.Leu1045=)
c.309C>T (p.Leu103=)
c.1348C>T (n.1348C>T)
c.143C>T
c.1167+44C>T
c.2343C>T (p.Leu781=)
c.3471C>T (p.Leu1157=)
c.386C>T
c.3651C>T (p.Leu1217=)
c.3318C>T (p.Leu1106=)
7g.117627615T>ACA368996408CFTRc.3517+45T>A (n.3517+45T>A)
c.*3276T>A (n.*3276T>A)
c.3379T>A (p.Ser1127Thr)
c.3562T>A (p.Ser1188Thr)
c.*215T>A (n.*215T>A)
c.*223T>A (n.*223T>A)
c.*1937T>A (n.*1937T>A)
c.3556T>A (p.Ser1186Thr)
c.*3386T>A (n.*3386T>A)
c.3136T>A (p.Ser1046Thr)
c.310T>A (p.Ser104Thr)
c.1349T>A (n.1349T>A)
c.144T>A
c.1167+45T>A
c.2344T>A (p.Ser782Thr)
c.3472T>A (p.Ser1158Thr)
c.387T>A
c.3652T>A (p.Ser1218Thr)
c.3319T>A (p.Ser1107Thr)
7g.117627615T>CCA4451499CFTRc.3517+45T>C (n.3517+45T>C)
c.*3276T>C (n.*3276T>C)
c.3379T>C (p.Ser1127Pro)
c.3562T>C (p.Ser1188Pro)
c.*215T>C (n.*215T>C)
c.*223T>C (n.*223T>C)
c.*1937T>C (n.*1937T>C)
c.3556T>C (p.Ser1186Pro)
c.*3386T>C (n.*3386T>C)
c.3136T>C (p.Ser1046Pro)
c.310T>C (p.Ser104Pro)
c.1349T>C (n.1349T>C)
c.144T>C
c.1167+45T>C
c.2344T>C (p.Ser782Pro)
c.3472T>C (p.Ser1158Pro)
c.387T>C
c.3652T>C (p.Ser1218Pro)
c.3319T>C (p.Ser1107Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117627615T>GCA368996411CFTRc.3517+45T>G (n.3517+45T>G)
c.*3276T>G (n.*3276T>G)
c.3379T>G (p.Ser1127Ala)
c.3562T>G (p.Ser1188Ala)
c.*215T>G (n.*215T>G)
c.*223T>G (n.*223T>G)
c.*1937T>G (n.*1937T>G)
c.3556T>G (p.Ser1186Ala)
c.*3386T>G (n.*3386T>G)
c.3136T>G (p.Ser1046Ala)
c.310T>G (p.Ser104Ala)
c.1349T>G (n.1349T>G)
c.144T>G
c.1167+45T>G
c.2344T>G (p.Ser782Ala)
c.3472T>G (p.Ser1158Ala)
c.387T>G
c.3652T>G (p.Ser1218Ala)
c.3319T>G (p.Ser1107Ala)
7g.117627615T=CA1737398651CFTRc.3517+45T= (n.3517+45T=)
c.*3276T= (n.*3276T=)
c.3379T= (p.Ser1127=)
c.3562T= (p.Ser1188=)
c.*215T= (n.*215T=)
c.*223T= (n.*223T=)
c.*1937T= (n.*1937T=)
c.3556T= (p.Ser1186=)
c.*3386T= (n.*3386T=)
c.3136T= (p.Ser1046=)
c.310T= (p.Ser104=)
c.1349T= (n.1349T=)
c.144T=
c.1167+45T=
c.2344T= (p.Ser782=)
c.3472T= (p.Ser1158=)
c.387T=
c.3652T= (p.Ser1218=)
c.3319T= (p.Ser1107=)
7g.117627616C>ACA368996413CFTRc.3517+46C>A (n.3517+46C>A)
c.*3277C>A (n.*3277C>A)
c.3380C>A (p.Ser1127Ter)
c.3563C>A (p.Ser1188Ter)
c.*216C>A (n.*216C>A)
c.*224C>A (n.*224C>A)
c.*1938C>A (n.*1938C>A)
c.3557C>A (p.Ser1186Ter)
c.*3387C>A (n.*3387C>A)
c.3137C>A (p.Ser1046Ter)
c.311C>A (p.Ser104Ter)
c.1350C>A (n.1350C>A)
c.145C>A
c.1167+46C>A
c.2345C>A (p.Ser782Ter)
c.3473C>A (p.Ser1158Ter)
c.388C>A
c.3653C>A (p.Ser1218Ter)
c.3320C>A (p.Ser1107Ter)
 dbSNP
7g.117627616C=CA1737398652CFTRc.3517+46C= (n.3517+46C=)
c.*3277C= (n.*3277C=)
c.3380C= (p.Ser1127=)
c.3563C= (p.Ser1188=)
c.*216C= (n.*216C=)
c.*224C= (n.*224C=)
c.*1938C= (n.*1938C=)
c.3557C= (p.Ser1186=)
c.*3387C= (n.*3387C=)
c.3137C= (p.Ser1046=)
c.311C= (p.Ser104=)
c.1350C= (n.1350C=)
c.145C=
c.1167+46C=
c.2345C= (p.Ser782=)
c.3473C= (p.Ser1158=)
c.388C=
c.3653C= (p.Ser1218=)
c.3320C= (p.Ser1107=)
7g.117627616C>GCA368996415CFTRc.3517+46C>G (n.3517+46C>G)
c.*3277C>G (n.*3277C>G)
c.3380C>G (p.Ser1127Trp)
c.3563C>G (p.Ser1188Trp)
c.*216C>G (n.*216C>G)
c.*224C>G (n.*224C>G)
c.*1938C>G (n.*1938C>G)
c.3557C>G (p.Ser1186Trp)
c.*3387C>G (n.*3387C>G)
c.3137C>G (p.Ser1046Trp)
c.311C>G (p.Ser104Trp)
c.1350C>G (n.1350C>G)
c.145C>G
c.1167+46C>G
c.2345C>G (p.Ser782Trp)
c.3473C>G (p.Ser1158Trp)
c.388C>G
c.3653C>G (p.Ser1218Trp)
c.3320C>G (p.Ser1107Trp)
7g.117627616C>TCA164976575CFTRc.3517+46C>T (n.3517+46C>T)
c.*3277C>T (n.*3277C>T)
c.3380C>T (p.Ser1127Leu)
c.3563C>T (p.Ser1188Leu)
c.*216C>T (n.*216C>T)
c.*224C>T (n.*224C>T)
c.*1938C>T (n.*1938C>T)
c.3557C>T (p.Ser1186Leu)
c.*3387C>T (n.*3387C>T)
c.3137C>T (p.Ser1046Leu)
c.311C>T (p.Ser104Leu)
c.1350C>T (n.1350C>T)
c.145C>T
c.1167+46C>T
c.2345C>T (p.Ser782Leu)
c.3473C>T (p.Ser1158Leu)
c.388C>T
c.3653C>T (p.Ser1218Leu)
c.3320C>T (p.Ser1107Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117627617G>ACA221027CFTRc.3517+47G>A (n.3517+47G>A)
c.*3278G>A (n.*3278G>A)
c.3381G>A (p.Ser1127=)
c.3564G>A (p.Ser1188=)
c.*217G>A (n.*217G>A)
c.*225G>A (n.*225G>A)
c.*1939G>A (n.*1939G>A)
c.3558G>A (p.Ser1186=)
c.*3388G>A (n.*3388G>A)
c.3138G>A (p.Ser1046=)
c.312G>A (p.Ser104=)
c.1351G>A (n.1351G>A)
c.146G>A
c.1167+47G>A
c.2346G>A (p.Ser782=)
c.3474G>A (p.Ser1158=)
c.389G>A
c.3654G>A (p.Ser1218=)
c.3321G>A (p.Ser1107=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117627617G>CCA457231227CFTRc.3517+47G>C (n.3517+47G>C)
c.*3278G>C (n.*3278G>C)
c.3381G>C (p.Ser1127=)
c.3564G>C (p.Ser1188=)
c.*217G>C (n.*217G>C)
c.*225G>C (n.*225G>C)
c.*1939G>C (n.*1939G>C)
c.3558G>C (p.Ser1186=)
c.*3388G>C (n.*3388G>C)
c.3138G>C (p.Ser1046=)
c.312G>C (p.Ser104=)
c.1351G>C (n.1351G>C)
c.146G>C
c.1167+47G>C
c.2346G>C (p.Ser782=)
c.3474G>C (p.Ser1158=)
c.389G>C
c.3654G>C (p.Ser1218=)
c.3321G>C (p.Ser1107=)
7g.117627617G=CA1737398653CFTRc.3517+47G= (n.3517+47G=)
c.*3278G= (n.*3278G=)
c.3381G= (p.Ser1127=)
c.3564G= (p.Ser1188=)
c.*217G= (n.*217G=)
c.*225G= (n.*225G=)
c.*1939G= (n.*1939G=)
c.3558G= (p.Ser1186=)
c.*3388G= (n.*3388G=)
c.3138G= (p.Ser1046=)
c.312G= (p.Ser104=)
c.1351G= (n.1351G=)
c.146G=
c.1167+47G=
c.2346G= (p.Ser782=)
c.3474G= (p.Ser1158=)
c.389G=
c.3654G= (p.Ser1218=)
c.3321G= (p.Ser1107=)
7g.117627617G>TCA457231226CFTRc.3517+47G>T (n.3517+47G>T)
c.*3278G>T (n.*3278G>T)
c.3381G>T (p.Ser1127=)
c.3564G>T (p.Ser1188=)
c.*217G>T (n.*217G>T)
c.*225G>T (n.*225G>T)
c.*1939G>T (n.*1939G>T)
c.3558G>T (p.Ser1186=)
c.*3388G>T (n.*3388G>T)
c.3138G>T (p.Ser1046=)
c.312G>T (p.Ser104=)
c.1351G>T (n.1351G>T)
c.146G>T
c.1167+47G>T
c.2346G>T (p.Ser782=)
c.3474G>T (p.Ser1158=)
c.389G>T
c.3654G>T (p.Ser1218=)
c.3321G>T (p.Ser1107=)
7g.117627617_117627643dupCA2580614244CFTRc.3517+47_3517+73dup (n.3517+47_3517+73dup)
c.*3278_*3304dup (n.*3278_*3304dup)
c.3381_3407dup (p.Ser1135_His1136insGlnLysValMetIleIleGluAsnSer)
c.3564_3590dup (p.Ser1196_His1197insGlnLysValMetIleIleGluAsnSer)
c.*217_*243dup (n.*217_*243dup)
c.*225_*251dup (n.*225_*251dup)
c.*1939_*1965dup (n.*1939_*1965dup)
c.3558_3584dup (p.Ser1194_His1195insGlnLysValMetIleIleGluAsnSer)
c.*3388_*3414dup (n.*3388_*3414dup)
c.3138_3164dup (p.Ser1054_His1055insGlnLysValMetIleIleGluAsnSer)
c.312_338dup (p.Ser112_His113insGlnLysValMetIleIleGluAsnSer)
c.1351_1377dup (n.1351_1377dup)
c.146_172dup
c.1167+47_1167+73dup
c.2346_2372dup (p.Ser790_His791insGlnLysValMetIleIleGluAsnSer)
c.3474_3500dup (p.Ser1166_His1167insGlnLysValMetIleIleGluAsnSer)
c.389_415dup
c.3654_3680dup (p.Ser1226_His1227insGlnLysValMetIleIleGluAsnSer)
c.3321_3347dup (p.Ser1115_His1116insGlnLysValMetIleIleGluAsnSer)
 ClinVar
7g.117627618A>CCA368996419CFTRc.3517+48A>C (n.3517+48A>C)
c.*3279A>C (n.*3279A>C)
c.3382A>C (p.Lys1128Gln)
c.3565A>C (p.Lys1189Gln)
c.*218A>C (n.*218A>C)
c.*226A>C (n.*226A>C)
c.*1940A>C (n.*1940A>C)
c.3559A>C (p.Lys1187Gln)
c.*3389A>C (n.*3389A>C)
c.3139A>C (p.Lys1047Gln)
c.313A>C (p.Lys105Gln)
c.1352A>C (n.1352A>C)
c.147A>C
c.1167+48A>C
c.2347A>C (p.Lys783Gln)
c.3475A>C (p.Lys1159Gln)
c.390A>C
c.3655A>C (p.Lys1219Gln)
c.3322A>C (p.Lys1108Gln)
7g.117627618A>GCA368996420CFTRc.3517+48A>G (n.3517+48A>G)
c.*3279A>G (n.*3279A>G)
c.3382A>G (p.Lys1128Glu)
c.3565A>G (p.Lys1189Glu)
c.*218A>G (n.*218A>G)
c.*226A>G (n.*226A>G)
c.*1940A>G (n.*1940A>G)
c.3559A>G (p.Lys1187Glu)
c.*3389A>G (n.*3389A>G)
c.3139A>G (p.Lys1047Glu)
c.313A>G (p.Lys105Glu)
c.1352A>G (n.1352A>G)
c.147A>G
c.1167+48A>G
c.2347A>G (p.Lys783Glu)
c.3475A>G (p.Lys1159Glu)
c.390A>G
c.3655A>G (p.Lys1219Glu)
c.3322A>G (p.Lys1108Glu)
 gnomAD v4
7g.117627618A>TCA368996422CFTRc.3517+48A>T (n.3517+48A>T)
c.*3279A>T (n.*3279A>T)
c.3382A>T (p.Lys1128Ter)
c.3565A>T (p.Lys1189Ter)
c.*218A>T (n.*218A>T)
c.*226A>T (n.*226A>T)
c.*1940A>T (n.*1940A>T)
c.3559A>T (p.Lys1187Ter)
c.*3389A>T (n.*3389A>T)
c.3139A>T (p.Lys1047Ter)
c.313A>T (p.Lys105Ter)
c.1352A>T (n.1352A>T)
c.147A>T
c.1167+48A>T
c.2347A>T (p.Lys783Ter)
c.3475A>T (p.Lys1159Ter)
c.390A>T
c.3655A>T (p.Lys1219Ter)
c.3322A>T (p.Lys1108Ter)
7g.117627620dupCA2580076339CFTRc.3517+50dup (n.3517+50dup)
c.*3281dup (n.*3281dup)
c.3384dup (p.Val1129SerfsTer5)
c.3567dup (p.Val1190SerfsTer5)
c.*220dup (n.*220dup)
c.*228dup (n.*228dup)
c.*1942dup (n.*1942dup)
c.3561dup (p.Val1188SerfsTer5)
c.*3391dup (n.*3391dup)
c.3141dup (p.Val1048SerfsTer5)
c.315dup (p.Val106SerfsTer5)
c.1354dup (n.1354dup)
c.149dup
c.1167+50dup
c.2349dup (p.Val784SerfsTer5)
c.3477dup (p.Val1160SerfsTer5)
c.392dup
c.3657dup (p.Val1220SerfsTer5)
c.3324dup (p.Val1109SerfsTer5)
 ClinVar
7g.117627619A>CCA368996425CFTRc.3517+49A>C (n.3517+49A>C)
c.*3280A>C (n.*3280A>C)
c.3383A>C (p.Lys1128Thr)
c.3566A>C (p.Lys1189Thr)
c.*219A>C (n.*219A>C)
c.*227A>C (n.*227A>C)
c.*1941A>C (n.*1941A>C)
c.3560A>C (p.Lys1187Thr)
c.*3390A>C (n.*3390A>C)
c.3140A>C (p.Lys1047Thr)
c.314A>C (p.Lys105Thr)
c.1353A>C (n.1353A>C)
c.148A>C
c.1167+49A>C
c.2348A>C (p.Lys783Thr)
c.3476A>C (p.Lys1159Thr)
c.391A>C
c.3656A>C (p.Lys1219Thr)
c.3323A>C (p.Lys1108Thr)
7g.117627619A>GCA368996426CFTRc.3517+49A>G (n.3517+49A>G)
c.*3280A>G (n.*3280A>G)
c.3383A>G (p.Lys1128Arg)
c.3566A>G (p.Lys1189Arg)
c.*219A>G (n.*219A>G)
c.*227A>G (n.*227A>G)
c.*1941A>G (n.*1941A>G)
c.3560A>G (p.Lys1187Arg)
c.*3390A>G (n.*3390A>G)
c.3140A>G (p.Lys1047Arg)
c.314A>G (p.Lys105Arg)
c.1353A>G (n.1353A>G)
c.148A>G
c.1167+49A>G
c.2348A>G (p.Lys783Arg)
c.3476A>G (p.Lys1159Arg)
c.391A>G
c.3656A>G (p.Lys1219Arg)
c.3323A>G (p.Lys1108Arg)
7g.117627619A>TCA368996428CFTRc.3517+49A>T (n.3517+49A>T)
c.*3280A>T (n.*3280A>T)
c.3383A>T (p.Lys1128Ile)
c.3566A>T (p.Lys1189Ile)
c.*219A>T (n.*219A>T)
c.*227A>T (n.*227A>T)
c.*1941A>T (n.*1941A>T)
c.3560A>T (p.Lys1187Ile)
c.*3390A>T (n.*3390A>T)
c.3140A>T (p.Lys1047Ile)
c.314A>T (p.Lys105Ile)
c.1353A>T (n.1353A>T)
c.148A>T
c.1167+49A>T
c.2348A>T (p.Lys783Ile)
c.3476A>T (p.Lys1159Ile)
c.391A>T
c.3656A>T (p.Lys1219Ile)
c.3323A>T (p.Lys1108Ile)
7g.117627620A>CCA368996430CFTRc.3517+50A>C (n.3517+50A>C)
c.*3281A>C (n.*3281A>C)
c.3384A>C (p.Lys1128Asn)
c.3567A>C (p.Lys1189Asn)
c.*220A>C (n.*220A>C)
c.*228A>C (n.*228A>C)
c.*1942A>C (n.*1942A>C)
c.3561A>C (p.Lys1187Asn)
c.*3391A>C (n.*3391A>C)
c.3141A>C (p.Lys1047Asn)
c.315A>C (p.Lys105Asn)
c.1354A>C (n.1354A>C)
c.149A>C
c.1167+50A>C
c.2349A>C (p.Lys783Asn)
c.3477A>C (p.Lys1159Asn)
c.392A>C
c.3657A>C (p.Lys1219Asn)
c.3324A>C (p.Lys1108Asn)
7g.117627620A>GCA457231231CFTRc.3517+50A>G (n.3517+50A>G)
c.*3281A>G (n.*3281A>G)
c.3384A>G (p.Lys1128=)
c.3567A>G (p.Lys1189=)
c.*220A>G (n.*220A>G)
c.*228A>G (n.*228A>G)
c.*1942A>G (n.*1942A>G)
c.3561A>G (p.Lys1187=)
c.*3391A>G (n.*3391A>G)
c.3141A>G (p.Lys1047=)
c.315A>G (p.Lys105=)
c.1354A>G (n.1354A>G)
c.149A>G
c.1167+50A>G
c.2349A>G (p.Lys783=)
c.3477A>G (p.Lys1159=)
c.392A>G
c.3657A>G (p.Lys1219=)
c.3324A>G (p.Lys1108=)
 ClinVar
7g.117627620A>TCA368996432CFTRc.3517+50A>T (n.3517+50A>T)
c.*3281A>T (n.*3281A>T)
c.3384A>T (p.Lys1128Asn)
c.3567A>T (p.Lys1189Asn)
c.*220A>T (n.*220A>T)
c.*228A>T (n.*228A>T)
c.*1942A>T (n.*1942A>T)
c.3561A>T (p.Lys1187Asn)
c.*3391A>T (n.*3391A>T)
c.3141A>T (p.Lys1047Asn)
c.315A>T (p.Lys105Asn)
c.1354A>T (n.1354A>T)
c.149A>T
c.1167+50A>T
c.2349A>T (p.Lys783Asn)
c.3477A>T (p.Lys1159Asn)
c.392A>T
c.3657A>T (p.Lys1219Asn)
c.3324A>T (p.Lys1108Asn)
7g.117627621G>ACA368996433CFTRc.3517+51G>A (n.3517+51G>A)
c.*3282G>A (n.*3282G>A)
c.3385G>A (p.Val1129Ile)
c.3568G>A (p.Val1190Ile)
c.*221G>A (n.*221G>A)
c.*229G>A (n.*229G>A)
c.*1943G>A (n.*1943G>A)
c.3562G>A (p.Val1188Ile)
c.*3392G>A (n.*3392G>A)
c.3142G>A (p.Val1048Ile)
c.316G>A (p.Val106Ile)
c.1355G>A (n.1355G>A)
c.150G>A
c.1167+51G>A
c.2350G>A (p.Val784Ile)
c.3478G>A (p.Val1160Ile)
c.393G>A
c.3658G>A (p.Val1220Ile)
c.3325G>A (p.Val1109Ile)
 ClinVar
7g.117627621G>CCA368996438CFTRc.3517+51G>C (n.3517+51G>C)
c.*3282G>C (n.*3282G>C)
c.3385G>C (p.Val1129Leu)
c.3568G>C (p.Val1190Leu)
c.*221G>C (n.*221G>C)
c.*229G>C (n.*229G>C)
c.*1943G>C (n.*1943G>C)
c.3562G>C (p.Val1188Leu)
c.*3392G>C (n.*3392G>C)
c.3142G>C (p.Val1048Leu)
c.316G>C (p.Val106Leu)
c.1355G>C (n.1355G>C)
c.150G>C
c.1167+51G>C
c.2350G>C (p.Val784Leu)
c.3478G>C (p.Val1160Leu)
c.393G>C
c.3658G>C (p.Val1220Leu)
c.3325G>C (p.Val1109Leu)
 COSMIC
7g.117627621G>TCA368996436CFTRc.3517+51G>T (n.3517+51G>T)
c.*3282G>T (n.*3282G>T)
c.3385G>T (p.Val1129Phe)
c.3568G>T (p.Val1190Phe)
c.*221G>T (n.*221G>T)
c.*229G>T (n.*229G>T)
c.*1943G>T (n.*1943G>T)
c.3562G>T (p.Val1188Phe)
c.*3392G>T (n.*3392G>T)
c.3142G>T (p.Val1048Phe)
c.316G>T (p.Val106Phe)
c.1355G>T (n.1355G>T)
c.150G>T
c.1167+51G>T
c.2350G>T (p.Val784Phe)
c.3478G>T (p.Val1160Phe)
c.393G>T
c.3658G>T (p.Val1220Phe)
c.3325G>T (p.Val1109Phe)
 gnomAD v4
7g.117627621_117627623delinsGTTCA1737398654CFTRc.3517+51_3517+53delinsGTT (n.3517+51_3517+53delinsGTT)
c.*3282_*3284delinsGTT (n.*3282_*3284delinsGTT)
c.3385_3387delinsGTT (p.Val1129=)
c.3568_3570delinsGTT (p.Val1190=)
c.*221_*223delinsGTT (n.*221_*223delinsGTT)
c.*229_*231delinsGTT (n.*229_*231delinsGTT)
c.*1943_*1945delinsGTT (n.*1943_*1945delinsGTT)
c.3562_3564delinsGTT (p.Val1188=)
c.*3392_*3394delinsGTT (n.*3392_*3394delinsGTT)
c.3142_3144delinsGTT (p.Val1048=)
c.316_318delinsGTT (p.Val106=)
c.1355_1357delinsGTT (n.1355_1357delinsGTT)
c.150_152delinsGTT
c.1167+51_1167+53delinsGTT
c.2350_2352delinsGTT (p.Val784=)
c.3478_3480delinsGTT (p.Val1160=)
c.393_395delinsGTT
c.3658_3660delinsGTT (p.Val1220=)
c.3325_3327delinsGTT (p.Val1109=)
7g.117627622T>ACA368996439CFTRc.3517+52T>A (n.3517+52T>A)
c.*3283T>A (n.*3283T>A)
c.3386T>A (p.Val1129Asp)
c.3569T>A (p.Val1190Asp)
c.*222T>A (n.*222T>A)
c.*230T>A (n.*230T>A)
c.*1944T>A (n.*1944T>A)
c.3563T>A (p.Val1188Asp)
c.*3393T>A (n.*3393T>A)
c.3143T>A (p.Val1048Asp)
c.317T>A (p.Val106Asp)
c.1356T>A (n.1356T>A)
c.151T>A
c.1167+52T>A
c.2351T>A (p.Val784Asp)
c.3479T>A (p.Val1160Asp)
c.394T>A
c.3659T>A (p.Val1220Asp)
c.3326T>A (p.Val1109Asp)
7g.117627622T>CCA368996440CFTRc.3517+52T>C (n.3517+52T>C)
c.*3283T>C (n.*3283T>C)
c.3386T>C (p.Val1129Ala)
c.3569T>C (p.Val1190Ala)
c.*222T>C (n.*222T>C)
c.*230T>C (n.*230T>C)
c.*1944T>C (n.*1944T>C)
c.3563T>C (p.Val1188Ala)
c.*3393T>C (n.*3393T>C)
c.3143T>C (p.Val1048Ala)
c.317T>C (p.Val106Ala)
c.1356T>C (n.1356T>C)
c.151T>C
c.1167+52T>C
c.2351T>C (p.Val784Ala)
c.3479T>C (p.Val1160Ala)
c.394T>C
c.3659T>C (p.Val1220Ala)
c.3326T>C (p.Val1109Ala)
7g.117627622T>GCA368996441CFTRc.3517+52T>G (n.3517+52T>G)
c.*3283T>G (n.*3283T>G)
c.3386T>G (p.Val1129Gly)
c.3569T>G (p.Val1190Gly)
c.*222T>G (n.*222T>G)
c.*230T>G (n.*230T>G)
c.*1944T>G (n.*1944T>G)
c.3563T>G (p.Val1188Gly)
c.*3393T>G (n.*3393T>G)
c.3143T>G (p.Val1048Gly)
c.317T>G (p.Val106Gly)
c.1356T>G (n.1356T>G)
c.151T>G
c.1167+52T>G
c.2351T>G (p.Val784Gly)
c.3479T>G (p.Val1160Gly)
c.394T>G
c.3659T>G (p.Val1220Gly)
c.3326T>G (p.Val1109Gly)
7g.117627622_117627623delCA913189837CFTRc.3517+52_3517+53del (n.3517+52_3517+53del)
c.*3283_*3284del (n.*3283_*3284del)
c.3386_3387del (p.Val1129AspfsTer4)
c.3569_3570del (p.Val1190AspfsTer4)
c.*222_*223del (n.*222_*223del)
c.*230_*231del (n.*230_*231del)
c.*1944_*1945del (n.*1944_*1945del)
c.3563_3564del (p.Val1188AspfsTer4)
c.*3393_*3394del (n.*3393_*3394del)
c.3143_3144del (p.Val1048AspfsTer4)
c.317_318del (p.Val106AspfsTer4)
c.1356_1357del (n.1356_1357del)
c.151_152del
c.1167+52_1167+53del
c.2351_2352del (p.Val784AspfsTer4)
c.3479_3480del (p.Val1160AspfsTer4)
c.394_395del
c.3659_3660del (p.Val1220AspfsTer4)
c.3326_3327del (p.Val1109AspfsTer4)
 ClinVar dbSNP
7g.117627623T>ACA457231234CFTRc.3517+53T>A (n.3517+53T>A)
c.*3284T>A (n.*3284T>A)
c.3387T>A (p.Val1129=)
c.3570T>A (p.Val1190=)
c.*223T>A (n.*223T>A)
c.*231T>A (n.*231T>A)
c.*1945T>A (n.*1945T>A)
c.3564T>A (p.Val1188=)
c.*3394T>A (n.*3394T>A)
c.3144T>A (p.Val1048=)
c.318T>A (p.Val106=)
c.1357T>A (n.1357T>A)
c.152T>A
c.1167+53T>A
c.2352T>A (p.Val784=)
c.3480T>A (p.Val1160=)
c.395T>A
c.3660T>A (p.Val1220=)
c.3327T>A (p.Val1109=)
7g.117627623T>CCA457231233CFTRc.3517+53T>C (n.3517+53T>C)
c.*3284T>C (n.*3284T>C)
c.3387T>C (p.Val1129=)
c.3570T>C (p.Val1190=)
c.*223T>C (n.*223T>C)
c.*231T>C (n.*231T>C)
c.*1945T>C (n.*1945T>C)
c.3564T>C (p.Val1188=)
c.*3394T>C (n.*3394T>C)
c.3144T>C (p.Val1048=)
c.318T>C (p.Val106=)
c.1357T>C (n.1357T>C)
c.152T>C
c.1167+53T>C
c.2352T>C (p.Val784=)
c.3480T>C (p.Val1160=)
c.395T>C
c.3660T>C (p.Val1220=)
c.3327T>C (p.Val1109=)
7g.117627623T>GCA457231232CFTRc.3517+53T>G (n.3517+53T>G)
c.*3284T>G (n.*3284T>G)
c.3387T>G (p.Val1129=)
c.3570T>G (p.Val1190=)
c.*223T>G (n.*223T>G)
c.*231T>G (n.*231T>G)
c.*1945T>G (n.*1945T>G)
c.3564T>G (p.Val1188=)
c.*3394T>G (n.*3394T>G)
c.3144T>G (p.Val1048=)
c.318T>G (p.Val106=)
c.1357T>G (n.1357T>G)
c.152T>G
c.1167+53T>G
c.2352T>G (p.Val784=)
c.3480T>G (p.Val1160=)
c.395T>G
c.3660T>G (p.Val1220=)
c.3327T>G (p.Val1109=)
7g.117627624A=CA1737398655CFTRc.3517+54A= (n.3517+54A=)
c.*3285A= (n.*3285A=)
c.3388A= (p.Met1130=)
c.3571A= (p.Met1191=)
c.*224A= (n.*224A=)
c.*232A= (n.*232A=)
c.*1946A= (n.*1946A=)
c.3565A= (p.Met1189=)
c.*3395A= (n.*3395A=)
c.3145A= (p.Met1049=)
c.319A= (p.Met107=)
c.1358A= (n.1358A=)
c.153A=
c.1167+54A=
c.2353A= (p.Met785=)
c.3481A= (p.Met1161=)
c.396A=
c.3661A= (p.Met1221=)
c.3328A= (p.Met1110=)
7g.117627624A>CCA368996444CFTRc.3517+54A>C (n.3517+54A>C)
c.*3285A>C (n.*3285A>C)
c.3388A>C (p.Met1130Leu)
c.3571A>C (p.Met1191Leu)
c.*224A>C (n.*224A>C)
c.*232A>C (n.*232A>C)
c.*1946A>C (n.*1946A>C)
c.3565A>C (p.Met1189Leu)
c.*3395A>C (n.*3395A>C)
c.3145A>C (p.Met1049Leu)
c.319A>C (p.Met107Leu)
c.1358A>C (n.1358A>C)
c.153A>C
c.1167+54A>C
c.2353A>C (p.Met785Leu)
c.3481A>C (p.Met1161Leu)
c.396A>C
c.3661A>C (p.Met1221Leu)
c.3328A>C (p.Met1110Leu)
 gnomAD v4
7g.117627624A>GCA368996446CFTRc.3517+54A>G (n.3517+54A>G)
c.*3285A>G (n.*3285A>G)
c.3388A>G (p.Met1130Val)
c.3571A>G (p.Met1191Val)
c.*224A>G (n.*224A>G)
c.*232A>G (n.*232A>G)
c.*1946A>G (n.*1946A>G)
c.3565A>G (p.Met1189Val)
c.*3395A>G (n.*3395A>G)
c.3145A>G (p.Met1049Val)
c.319A>G (p.Met107Val)
c.1358A>G (n.1358A>G)
c.153A>G
c.1167+54A>G
c.2353A>G (p.Met785Val)
c.3481A>G (p.Met1161Val)
c.396A>G
c.3661A>G (p.Met1221Val)
c.3328A>G (p.Met1110Val)
 dbSNP
7g.117627624A>TCA368996447CFTRc.3517+54A>T (n.3517+54A>T)
c.*3285A>T (n.*3285A>T)
c.3388A>T (p.Met1130Leu)
c.3571A>T (p.Met1191Leu)
c.*224A>T (n.*224A>T)
c.*232A>T (n.*232A>T)
c.*1946A>T (n.*1946A>T)
c.3565A>T (p.Met1189Leu)
c.*3395A>T (n.*3395A>T)
c.3145A>T (p.Met1049Leu)
c.319A>T (p.Met107Leu)
c.1358A>T (n.1358A>T)
c.153A>T
c.1167+54A>T
c.2353A>T (p.Met785Leu)
c.3481A>T (p.Met1161Leu)
c.396A>T
c.3661A>T (p.Met1221Leu)
c.3328A>T (p.Met1110Leu)
7g.117627624dupCA2580076340CFTRc.3517+54dup (n.3517+54dup)
c.*3285dup (n.*3285dup)
c.3388dup (p.Met1130AsnfsTer4)
c.3571dup (p.Met1191AsnfsTer4)
c.*224dup (n.*224dup)
c.*232dup (n.*232dup)
c.*1946dup (n.*1946dup)
c.3565dup (p.Met1189AsnfsTer4)
c.*3395dup (n.*3395dup)
c.3145dup (p.Met1049AsnfsTer4)
c.319dup (p.Met107AsnfsTer4)
c.1358dup (n.1358dup)
c.153dup
c.1167+54dup
c.2353dup (p.Met785AsnfsTer4)
c.3481dup (p.Met1161AsnfsTer4)
c.396dup
c.3661dup (p.Met1221AsnfsTer4)
c.3328dup (p.Met1110AsnfsTer4)
 ClinVar
7g.117627625T>ACA368996451CFTRc.3517+55T>A (n.3517+55T>A)
c.*3286T>A (n.*3286T>A)
c.3389T>A (p.Met1130Lys)
c.3572T>A (p.Met1191Lys)
c.*225T>A (n.*225T>A)
c.*233T>A (n.*233T>A)
c.*1947T>A (n.*1947T>A)
c.3566T>A (p.Met1189Lys)
c.*3396T>A (n.*3396T>A)
c.3146T>A (p.Met1049Lys)
c.320T>A (p.Met107Lys)
c.1359T>A (n.1359T>A)
c.154T>A
c.1167+55T>A
c.2354T>A (p.Met785Lys)
c.3482T>A (p.Met1161Lys)
c.397T>A
c.3662T>A (p.Met1221Lys)
c.3329T>A (p.Met1110Lys)
7g.117627625T>CCA4451500CFTRc.3517+55T>C (n.3517+55T>C)
c.*3286T>C (n.*3286T>C)
c.3389T>C (p.Met1130Thr)
c.3572T>C (p.Met1191Thr)
c.*225T>C (n.*225T>C)
c.*233T>C (n.*233T>C)
c.*1947T>C (n.*1947T>C)
c.3566T>C (p.Met1189Thr)
c.*3396T>C (n.*3396T>C)
c.3146T>C (p.Met1049Thr)
c.320T>C (p.Met107Thr)
c.1359T>C (n.1359T>C)
c.154T>C
c.1167+55T>C
c.2354T>C (p.Met785Thr)
c.3482T>C (p.Met1161Thr)
c.397T>C
c.3662T>C (p.Met1221Thr)
c.3329T>C (p.Met1110Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117627625T>GCA368996449CFTRc.3517+55T>G (n.3517+55T>G)
c.*3286T>G (n.*3286T>G)
c.3389T>G (p.Met1130Arg)
c.3572T>G (p.Met1191Arg)
c.*225T>G (n.*225T>G)
c.*233T>G (n.*233T>G)
c.*1947T>G (n.*1947T>G)
c.3566T>G (p.Met1189Arg)
c.*3396T>G (n.*3396T>G)
c.3146T>G (p.Met1049Arg)
c.320T>G (p.Met107Arg)
c.1359T>G (n.1359T>G)
c.154T>G
c.1167+55T>G
c.2354T>G (p.Met785Arg)
c.3482T>G (p.Met1161Arg)
c.397T>G
c.3662T>G (p.Met1221Arg)
c.3329T>G (p.Met1110Arg)
 gnomAD v4
7g.117627625T=CA1737398656CFTRc.3517+55T= (n.3517+55T=)
c.*3286T= (n.*3286T=)
c.3389T= (p.Met1130=)
c.3572T= (p.Met1191=)
c.*225T= (n.*225T=)
c.*233T= (n.*233T=)
c.*1947T= (n.*1947T=)
c.3566T= (p.Met1189=)
c.*3396T= (n.*3396T=)
c.3146T= (p.Met1049=)
c.320T= (p.Met107=)
c.1359T= (n.1359T=)
c.154T=
c.1167+55T=
c.2354T= (p.Met785=)
c.3482T= (p.Met1161=)
c.397T=
c.3662T= (p.Met1221=)
c.3329T= (p.Met1110=)
7g.117627626G>ACA368996452CFTRc.3517+56G>A (n.3517+56G>A)
c.*3287G>A (n.*3287G>A)
c.3390G>A (p.Met1130Ile)
c.3573G>A (p.Met1191Ile)
c.*226G>A (n.*226G>A)
c.*234G>A (n.*234G>A)
c.*1948G>A (n.*1948G>A)
c.3567G>A (p.Met1189Ile)
c.*3397G>A (n.*3397G>A)
c.3147G>A (p.Met1049Ile)
c.321G>A (p.Met107Ile)
c.1360G>A (n.1360G>A)
c.155G>A
c.1167+56G>A
c.2355G>A (p.Met785Ile)
c.3483G>A (p.Met1161Ile)
c.398G>A
c.3663G>A (p.Met1221Ile)
c.3330G>A (p.Met1110Ile)
 ClinVar dbSNP gnomAD v4
7g.117627626G>CCA368996454CFTRc.3517+56G>C (n.3517+56G>C)
c.*3287G>C (n.*3287G>C)
c.3390G>C (p.Met1130Ile)
c.3573G>C (p.Met1191Ile)
c.*226G>C (n.*226G>C)
c.*234G>C (n.*234G>C)
c.*1948G>C (n.*1948G>C)
c.3567G>C (p.Met1189Ile)
c.*3397G>C (n.*3397G>C)
c.3147G>C (p.Met1049Ile)
c.321G>C (p.Met107Ile)
c.1360G>C (n.1360G>C)
c.155G>C
c.1167+56G>C
c.2355G>C (p.Met785Ile)
c.3483G>C (p.Met1161Ile)
c.398G>C
c.3663G>C (p.Met1221Ile)
c.3330G>C (p.Met1110Ile)
 gnomAD v4
7g.117627626G=CA1737398657CFTRc.3517+56G= (n.3517+56G=)
c.*3287G= (n.*3287G=)
c.3390G= (p.Met1130=)
c.3573G= (p.Met1191=)
c.*226G= (n.*226G=)
c.*234G= (n.*234G=)
c.*1948G= (n.*1948G=)
c.3567G= (p.Met1189=)
c.*3397G= (n.*3397G=)
c.3147G= (p.Met1049=)
c.321G= (p.Met107=)
c.1360G= (n.1360G=)
c.155G=
c.1167+56G=
c.2355G= (p.Met785=)
c.3483G= (p.Met1161=)
c.398G=
c.3663G= (p.Met1221=)
c.3330G= (p.Met1110=)
7g.117627626G>TCA368996456CFTRc.3517+56G>T (n.3517+56G>T)
c.*3287G>T (n.*3287G>T)
c.3390G>T (p.Met1130Ile)
c.3573G>T (p.Met1191Ile)
c.*226G>T (n.*226G>T)
c.*234G>T (n.*234G>T)
c.*1948G>T (n.*1948G>T)
c.3567G>T (p.Met1189Ile)
c.*3397G>T (n.*3397G>T)
c.3147G>T (p.Met1049Ile)
c.321G>T (p.Met107Ile)
c.1360G>T (n.1360G>T)
c.155G>T
c.1167+56G>T
c.2355G>T (p.Met785Ile)
c.3483G>T (p.Met1161Ile)
c.398G>T
c.3663G>T (p.Met1221Ile)
c.3330G>T (p.Met1110Ile)
 dbSNP gnomAD v3 gnomAD v4
7g.117627627A=CA1737398658CFTRc.3517+57A= (n.3517+57A=)
c.*3288A= (n.*3288A=)
c.3391A= (p.Ile1131=)
c.3574A= (p.Ile1192=)
c.*227A= (n.*227A=)
c.*235A= (n.*235A=)
c.*1949A= (n.*1949A=)
c.3568A= (p.Ile1190=)
c.*3398A= (n.*3398A=)
c.3148A= (p.Ile1050=)
c.322A= (p.Ile108=)
c.1361A= (n.1361A=)
c.156A=
c.1167+57A=
c.2356A= (p.Ile786=)
c.3484A= (p.Ile1162=)
c.399A=
c.3664A= (p.Ile1222=)
c.3331A= (p.Ile1111=)
7g.117627627A>CCA368996458CFTRc.3517+57A>C (n.3517+57A>C)
c.*3288A>C (n.*3288A>C)
c.3391A>C (p.Ile1131Leu)
c.3574A>C (p.Ile1192Leu)
c.*227A>C (n.*227A>C)
c.*235A>C (n.*235A>C)
c.*1949A>C (n.*1949A>C)
c.3568A>C (p.Ile1190Leu)
c.*3398A>C (n.*3398A>C)
c.3148A>C (p.Ile1050Leu)
c.322A>C (p.Ile108Leu)
c.1361A>C (n.1361A>C)
c.156A>C
c.1167+57A>C
c.2356A>C (p.Ile786Leu)
c.3484A>C (p.Ile1162Leu)
c.399A>C
c.3664A>C (p.Ile1222Leu)
c.3331A>C (p.Ile1111Leu)
7g.117627627A>GCA368996460CFTRc.3517+57A>G (n.3517+57A>G)
c.*3288A>G (n.*3288A>G)
c.3391A>G (p.Ile1131Val)
c.3574A>G (p.Ile1192Val)
c.*227A>G (n.*227A>G)
c.*235A>G (n.*235A>G)
c.*1949A>G (n.*1949A>G)
c.3568A>G (p.Ile1190Val)
c.*3398A>G (n.*3398A>G)
c.3148A>G (p.Ile1050Val)
c.322A>G (p.Ile108Val)
c.1361A>G (n.1361A>G)
c.156A>G
c.1167+57A>G
c.2356A>G (p.Ile786Val)
c.3484A>G (p.Ile1162Val)
c.399A>G
c.3664A>G (p.Ile1222Val)
c.3331A>G (p.Ile1111Val)
7g.117627627A>TCA368996462CFTRc.3517+57A>T (n.3517+57A>T)
c.*3288A>T (n.*3288A>T)
c.3391A>T (p.Ile1131Phe)
c.3574A>T (p.Ile1192Phe)
c.*227A>T (n.*227A>T)
c.*235A>T (n.*235A>T)
c.*1949A>T (n.*1949A>T)
c.3568A>T (p.Ile1190Phe)
c.*3398A>T (n.*3398A>T)
c.3148A>T (p.Ile1050Phe)
c.322A>T (p.Ile108Phe)
c.1361A>T (n.1361A>T)
c.156A>T
c.1167+57A>T
c.2356A>T (p.Ile786Phe)
c.3484A>T (p.Ile1162Phe)
c.399A>T
c.3664A>T (p.Ile1222Phe)
c.3331A>T (p.Ile1111Phe)
 ClinVar dbSNP gnomAD v4
7g.117627628T>ACA368996464CFTRc.3517+58T>A (n.3517+58T>A)
c.*3289T>A (n.*3289T>A)
c.3392T>A (p.Ile1131Asn)
c.3575T>A (p.Ile1192Asn)
c.*228T>A (n.*228T>A)
c.*236T>A (n.*236T>A)
c.*1950T>A (n.*1950T>A)
c.3569T>A (p.Ile1190Asn)
c.*3399T>A (n.*3399T>A)
c.3149T>A (p.Ile1050Asn)
c.323T>A (p.Ile108Asn)
c.1362T>A (n.1362T>A)
c.157T>A
c.1167+58T>A
c.2357T>A (p.Ile786Asn)
c.3485T>A (p.Ile1162Asn)
c.400T>A
c.3665T>A (p.Ile1222Asn)
c.3332T>A (p.Ile1111Asn)
7g.117627628T>CCA368996468CFTRc.3517+58T>C (n.3517+58T>C)
c.*3289T>C (n.*3289T>C)
c.3392T>C (p.Ile1131Thr)
c.3575T>C (p.Ile1192Thr)
c.*228T>C (n.*228T>C)
c.*236T>C (n.*236T>C)
c.*1950T>C (n.*1950T>C)
c.3569T>C (p.Ile1190Thr)
c.*3399T>C (n.*3399T>C)
c.3149T>C (p.Ile1050Thr)
c.323T>C (p.Ile108Thr)
c.1362T>C (n.1362T>C)
c.157T>C
c.1167+58T>C
c.2357T>C (p.Ile786Thr)
c.3485T>C (p.Ile1162Thr)
c.400T>C
c.3665T>C (p.Ile1222Thr)
c.3332T>C (p.Ile1111Thr)
 gnomAD v4
7g.117627628T>GCA368996466CFTRc.3517+58T>G (n.3517+58T>G)
c.*3289T>G (n.*3289T>G)
c.3392T>G (p.Ile1131Ser)
c.3575T>G (p.Ile1192Ser)
c.*228T>G (n.*228T>G)
c.*236T>G (n.*236T>G)
c.*1950T>G (n.*1950T>G)
c.3569T>G (p.Ile1190Ser)
c.*3399T>G (n.*3399T>G)
c.3149T>G (p.Ile1050Ser)
c.323T>G (p.Ile108Ser)
c.1362T>G (n.1362T>G)
c.157T>G
c.1167+58T>G
c.2357T>G (p.Ile786Ser)
c.3485T>G (p.Ile1162Ser)
c.400T>G
c.3665T>G (p.Ile1222Ser)
c.3332T>G (p.Ile1111Ser)
 gnomAD v4
7g.117627629T>ACA457231242CFTRc.3517+59T>A (n.3517+59T>A)
c.*3290T>A (n.*3290T>A)
c.3393T>A (p.Ile1131=)
c.3576T>A (p.Ile1192=)
c.*229T>A (n.*229T>A)
c.*237T>A (n.*237T>A)
c.*1951T>A (n.*1951T>A)
c.3570T>A (p.Ile1190=)
c.*3400T>A (n.*3400T>A)
c.3150T>A (p.Ile1050=)
c.324T>A (p.Ile108=)
c.1363T>A (n.1363T>A)
c.158T>A
c.1167+59T>A
c.2358T>A (p.Ile786=)
c.3486T>A (p.Ile1162=)
c.401T>A
c.3666T>A (p.Ile1222=)
c.3333T>A (p.Ile1111=)
7g.117627629T>CCA457231240CFTRc.3517+59T>C (n.3517+59T>C)
c.*3290T>C (n.*3290T>C)
c.3393T>C (p.Ile1131=)
c.3576T>C (p.Ile1192=)
c.*229T>C (n.*229T>C)
c.*237T>C (n.*237T>C)
c.*1951T>C (n.*1951T>C)
c.3570T>C (p.Ile1190=)
c.*3400T>C (n.*3400T>C)
c.3150T>C (p.Ile1050=)
c.324T>C (p.Ile108=)
c.1363T>C (n.1363T>C)
c.158T>C
c.1167+59T>C
c.2358T>C (p.Ile786=)
c.3486T>C (p.Ile1162=)
c.401T>C
c.3666T>C (p.Ile1222=)
c.3333T>C (p.Ile1111=)
7g.117627629T>GCA368996470CFTRc.3517+59T>G (n.3517+59T>G)
c.*3290T>G (n.*3290T>G)
c.3393T>G (p.Ile1131Met)
c.3576T>G (p.Ile1192Met)
c.*229T>G (n.*229T>G)
c.*237T>G (n.*237T>G)
c.*1951T>G (n.*1951T>G)
c.3570T>G (p.Ile1190Met)
c.*3400T>G (n.*3400T>G)
c.3150T>G (p.Ile1050Met)
c.324T>G (p.Ile108Met)
c.1363T>G (n.1363T>G)
c.158T>G
c.1167+59T>G
c.2358T>G (p.Ile786Met)
c.3486T>G (p.Ile1162Met)
c.401T>G
c.3666T>G (p.Ile1222Met)
c.3333T>G (p.Ile1111Met)
7g.117627630A=CA1737398659CFTRc.3517+60A= (n.3517+60A=)
c.*3291A= (n.*3291A=)
c.3394A= (p.Ile1132=)
c.3577A= (p.Ile1193=)
c.*230A= (n.*230A=)
c.*238A= (n.*238A=)
c.*1952A= (n.*1952A=)
c.3571A= (p.Ile1191=)
c.*3401A= (n.*3401A=)
c.3151A= (p.Ile1051=)
c.325A= (p.Ile109=)
c.1364A= (n.1364A=)
c.159A=
c.1167+60A=
c.2359A= (p.Ile787=)
c.3487A= (p.Ile1163=)
c.402A=
c.3667A= (p.Ile1223=)
c.3334A= (p.Ile1112=)
7g.117627630A>CCA368996471CFTRc.3517+60A>C (n.3517+60A>C)
c.*3291A>C (n.*3291A>C)
c.3394A>C (p.Ile1132Leu)
c.3577A>C (p.Ile1193Leu)
c.*230A>C (n.*230A>C)
c.*238A>C (n.*238A>C)
c.*1952A>C (n.*1952A>C)
c.3571A>C (p.Ile1191Leu)
c.*3401A>C (n.*3401A>C)
c.3151A>C (p.Ile1051Leu)
c.325A>C (p.Ile109Leu)
c.1364A>C (n.1364A>C)
c.159A>C
c.1167+60A>C
c.2359A>C (p.Ile787Leu)
c.3487A>C (p.Ile1163Leu)
c.402A>C
c.3667A>C (p.Ile1223Leu)
c.3334A>C (p.Ile1112Leu)
7g.117627630A>GCA368996473CFTRc.3517+60A>G (n.3517+60A>G)
c.*3291A>G (n.*3291A>G)
c.3394A>G (p.Ile1132Val)
c.3577A>G (p.Ile1193Val)
c.*230A>G (n.*230A>G)
c.*238A>G (n.*238A>G)
c.*1952A>G (n.*1952A>G)
c.3571A>G (p.Ile1191Val)
c.*3401A>G (n.*3401A>G)
c.3151A>G (p.Ile1051Val)
c.325A>G (p.Ile109Val)
c.1364A>G (n.1364A>G)
c.159A>G
c.1167+60A>G
c.2359A>G (p.Ile787Val)
c.3487A>G (p.Ile1163Val)
c.402A>G
c.3667A>G (p.Ile1223Val)
c.3334A>G (p.Ile1112Val)
 ClinVar dbSNP
7g.117627630A>TCA368996475CFTRc.3517+60A>T (n.3517+60A>T)
c.*3291A>T (n.*3291A>T)
c.3394A>T (p.Ile1132Phe)
c.3577A>T (p.Ile1193Phe)
c.*230A>T (n.*230A>T)
c.*238A>T (n.*238A>T)
c.*1952A>T (n.*1952A>T)
c.3571A>T (p.Ile1191Phe)
c.*3401A>T (n.*3401A>T)
c.3151A>T (p.Ile1051Phe)
c.325A>T (p.Ile109Phe)
c.1364A>T (n.1364A>T)
c.159A>T
c.1167+60A>T
c.2359A>T (p.Ile787Phe)
c.3487A>T (p.Ile1163Phe)
c.402A>T
c.3667A>T (p.Ile1223Phe)
c.3334A>T (p.Ile1112Phe)
7g.117627631T>ACA368996477CFTRc.3517+61T>A (n.3517+61T>A)
c.*3292T>A (n.*3292T>A)
c.3395T>A (p.Ile1132Asn)
c.3578T>A (p.Ile1193Asn)
c.*231T>A (n.*231T>A)
c.*239T>A (n.*239T>A)
c.*1953T>A (n.*1953T>A)
c.3572T>A (p.Ile1191Asn)
c.*3402T>A (n.*3402T>A)
c.3152T>A (p.Ile1051Asn)
c.326T>A (p.Ile109Asn)
c.1365T>A (n.1365T>A)
c.160T>A
c.1167+61T>A
c.2360T>A (p.Ile787Asn)
c.3488T>A (p.Ile1163Asn)
c.403T>A
c.3668T>A (p.Ile1223Asn)
c.3335T>A (p.Ile1112Asn)
7g.117627631T>CCA368996479CFTRc.3517+61T>C (n.3517+61T>C)
c.*3292T>C (n.*3292T>C)
c.3395T>C (p.Ile1132Thr)
c.3578T>C (p.Ile1193Thr)
c.*231T>C (n.*231T>C)
c.*239T>C (n.*239T>C)
c.*1953T>C (n.*1953T>C)
c.3572T>C (p.Ile1191Thr)
c.*3402T>C (n.*3402T>C)
c.3152T>C (p.Ile1051Thr)
c.326T>C (p.Ile109Thr)
c.1365T>C (n.1365T>C)
c.160T>C
c.1167+61T>C
c.2360T>C (p.Ile787Thr)
c.3488T>C (p.Ile1163Thr)
c.403T>C
c.3668T>C (p.Ile1223Thr)
c.3335T>C (p.Ile1112Thr)
 ClinVar gnomAD v4
7g.117627631T>GCA368996481CFTRc.3517+61T>G (n.3517+61T>G)
c.*3292T>G (n.*3292T>G)
c.3395T>G (p.Ile1132Ser)
c.3578T>G (p.Ile1193Ser)
c.*231T>G (n.*231T>G)
c.*239T>G (n.*239T>G)
c.*1953T>G (n.*1953T>G)
c.3572T>G (p.Ile1191Ser)
c.*3402T>G (n.*3402T>G)
c.3152T>G (p.Ile1051Ser)
c.326T>G (p.Ile109Ser)
c.1365T>G (n.1365T>G)
c.160T>G
c.1167+61T>G
c.2360T>G (p.Ile787Ser)
c.3488T>G (p.Ile1163Ser)
c.403T>G
c.3668T>G (p.Ile1223Ser)
c.3335T>G (p.Ile1112Ser)
7g.117627632T>ACA457231247CFTRc.3517+62T>A (n.3517+62T>A)
c.*3293T>A (n.*3293T>A)
c.3396T>A (p.Ile1132=)
c.3579T>A (p.Ile1193=)
c.*232T>A (n.*232T>A)
c.*240T>A (n.*240T>A)
c.*1954T>A (n.*1954T>A)
c.3573T>A (p.Ile1191=)
c.*3403T>A (n.*3403T>A)
c.3153T>A (p.Ile1051=)
c.327T>A (p.Ile109=)
c.1366T>A (n.1366T>A)
c.161T>A
c.1167+62T>A
c.2361T>A (p.Ile787=)
c.3489T>A (p.Ile1163=)
c.404T>A
c.3669T>A (p.Ile1223=)
c.3336T>A (p.Ile1112=)
7g.117627632T>CCA457231248CFTRc.3517+62T>C (n.3517+62T>C)
c.*3293T>C (n.*3293T>C)
c.3396T>C (p.Ile1132=)
c.3579T>C (p.Ile1193=)
c.*232T>C (n.*232T>C)
c.*240T>C (n.*240T>C)
c.*1954T>C (n.*1954T>C)
c.3573T>C (p.Ile1191=)
c.*3403T>C (n.*3403T>C)
c.3153T>C (p.Ile1051=)
c.327T>C (p.Ile109=)
c.1366T>C (n.1366T>C)
c.161T>C
c.1167+62T>C
c.2361T>C (p.Ile787=)
c.3489T>C (p.Ile1163=)
c.404T>C
c.3669T>C (p.Ile1223=)
c.3336T>C (p.Ile1112=)
7g.117627632T>GCA368996483CFTRc.3517+62T>G (n.3517+62T>G)
c.*3293T>G (n.*3293T>G)
c.3396T>G (p.Ile1132Met)
c.3579T>G (p.Ile1193Met)
c.*232T>G (n.*232T>G)
c.*240T>G (n.*240T>G)
c.*1954T>G (n.*1954T>G)
c.3573T>G (p.Ile1191Met)
c.*3403T>G (n.*3403T>G)
c.3153T>G (p.Ile1051Met)
c.327T>G (p.Ile109Met)
c.1366T>G (n.1366T>G)
c.161T>G
c.1167+62T>G
c.2361T>G (p.Ile787Met)
c.3489T>G (p.Ile1163Met)
c.404T>G
c.3669T>G (p.Ile1223Met)
c.3336T>G (p.Ile1112Met)
7g.117627633G>ACA368997029CFTRc.3517+63G>A (n.3517+63G>A)
c.*3294G>A (n.*3294G>A)
c.3397G>A (p.Glu1133Lys)
c.3580G>A (p.Glu1194Lys)
c.*233G>A (n.*233G>A)
c.*241G>A (n.*241G>A)
c.*1955G>A (n.*1955G>A)
c.3574G>A (p.Glu1192Lys)
c.*3404G>A (n.*3404G>A)
c.3154G>A (p.Glu1052Lys)
c.328G>A (p.Glu110Lys)
c.1367G>A (n.1367G>A)
c.162G>A
c.1167+63G>A
c.2362G>A (p.Glu788Lys)
c.3490G>A (p.Glu1164Lys)
c.405G>A
c.3670G>A (p.Glu1224Lys)
c.3337G>A (p.Glu1113Lys)
7g.117627633G>CCA368997031CFTRc.3517+63G>C (n.3517+63G>C)
c.*3294G>C (n.*3294G>C)
c.3397G>C (p.Glu1133Gln)
c.3580G>C (p.Glu1194Gln)
c.*233G>C (n.*233G>C)
c.*241G>C (n.*241G>C)
c.*1955G>C (n.*1955G>C)
c.3574G>C (p.Glu1192Gln)
c.*3404G>C (n.*3404G>C)
c.3154G>C (p.Glu1052Gln)
c.328G>C (p.Glu110Gln)
c.1367G>C (n.1367G>C)
c.162G>C
c.1167+63G>C
c.2362G>C (p.Glu788Gln)
c.3490G>C (p.Glu1164Gln)
c.405G>C
c.3670G>C (p.Glu1224Gln)
c.3337G>C (p.Glu1113Gln)
7g.117627633G>TCA368997032CFTRc.3517+63G>T (n.3517+63G>T)
c.*3294G>T (n.*3294G>T)
c.3397G>T (p.Glu1133Ter)
c.3580G>T (p.Glu1194Ter)
c.*233G>T (n.*233G>T)
c.*241G>T (n.*241G>T)
c.*1955G>T (n.*1955G>T)
c.3574G>T (p.Glu1192Ter)
c.*3404G>T (n.*3404G>T)
c.3154G>T (p.Glu1052Ter)
c.328G>T (p.Glu110Ter)
c.1367G>T (n.1367G>T)
c.162G>T
c.1167+63G>T
c.2362G>T (p.Glu788Ter)
c.3490G>T (p.Glu1164Ter)
c.405G>T
c.3670G>T (p.Glu1224Ter)
c.3337G>T (p.Glu1113Ter)
7g.117627634A>CCA368997034CFTRc.3517+64A>C (n.3517+64A>C)
c.*3295A>C (n.*3295A>C)
c.3398A>C (p.Glu1133Ala)
c.3581A>C (p.Glu1194Ala)
c.*234A>C (n.*234A>C)
c.*242A>C (n.*242A>C)
c.*1956A>C (n.*1956A>C)
c.3575A>C (p.Glu1192Ala)
c.*3405A>C (n.*3405A>C)
c.3155A>C (p.Glu1052Ala)
c.329A>C (p.Glu110Ala)
c.1368A>C (n.1368A>C)
c.163A>C
c.1167+64A>C
c.2363A>C (p.Glu788Ala)
c.3491A>C (p.Glu1164Ala)
c.406A>C
c.3671A>C (p.Glu1224Ala)
c.3338A>C (p.Glu1113Ala)
7g.117627634A>GCA368997038CFTRc.3517+64A>G (n.3517+64A>G)
c.*3295A>G (n.*3295A>G)
c.3398A>G (p.Glu1133Gly)
c.3581A>G (p.Glu1194Gly)
c.*234A>G (n.*234A>G)
c.*242A>G (n.*242A>G)
c.*1956A>G (n.*1956A>G)
c.3575A>G (p.Glu1192Gly)
c.*3405A>G (n.*3405A>G)
c.3155A>G (p.Glu1052Gly)
c.329A>G (p.Glu110Gly)
c.1368A>G (n.1368A>G)
c.163A>G
c.1167+64A>G
c.2363A>G (p.Glu788Gly)
c.3491A>G (p.Glu1164Gly)
c.406A>G
c.3671A>G (p.Glu1224Gly)
c.3338A>G (p.Glu1113Gly)
7g.117627634A>TCA368997036CFTRc.3517+64A>T (n.3517+64A>T)
c.*3295A>T (n.*3295A>T)
c.3398A>T (p.Glu1133Val)
c.3581A>T (p.Glu1194Val)
c.*234A>T (n.*234A>T)
c.*242A>T (n.*242A>T)
c.*1956A>T (n.*1956A>T)
c.3575A>T (p.Glu1192Val)
c.*3405A>T (n.*3405A>T)
c.3155A>T (p.Glu1052Val)
c.329A>T (p.Glu110Val)
c.1368A>T (n.1368A>T)
c.163A>T
c.1167+64A>T
c.2363A>T (p.Glu788Val)
c.3491A>T (p.Glu1164Val)
c.406A>T
c.3671A>T (p.Glu1224Val)
c.3338A>T (p.Glu1113Val)

Number of alleles fetched