Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117624642_117629920del | CA915945441 | CFTR | c.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 |
7 | g.117627333_117631592del | CA915945443 | CFTR | c.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 | |
7 | g.117627470_117632802dup | CA2580614241 | CFTR | c.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 | |
7 | g.117627522_117627770del | CA327202 | CFTR | c.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 | |
7 | g.117627565C>A | CA368996186 | CFTR | c.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) | |
7 | g.117627565C>G | CA368996188 | CFTR | c.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) | |
7 | g.117627565C>T | CA368996190 | CFTR | c.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) | |
7 | g.117627566A>C | CA457231186 | CFTR | c.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 |
7 | g.117627566A>G | CA457231187 | CFTR | c.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 |
7 | g.117627566A>T | CA457231188 | CFTR | c.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=) | |
7 | g.117627567G>A | CA368996192 | CFTR | c.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 |
7 | g.117627567G>C | CA368996194 | CFTR | c.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 |
7 | g.117627567G= | CA1737398626 | CFTR | c.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=) | |
7 | g.117627567G>T | CA368996196 | CFTR | c.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) | |
7 | g.117627568A>C | CA368996197 | CFTR | c.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) | |
7 | g.117627568A>G | CA368996198 | CFTR | c.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) | |
7 | g.117627568A>T | CA368996201 | CFTR | c.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) | |
7 | g.117627569A>C | CA368996204 | CFTR | c.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) | |
7 | g.117627569A>G | CA457231189 | CFTR | c.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=) | |
7 | g.117627569A>T | CA368996203 | CFTR | c.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) | |
7 | g.117627570G>A | CA4451489 | CFTR | c.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 |
7 | g.117627570G>C | CA368996208 | CFTR | c.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 |
7 | g.117627570G= | CA1737398627 | CFTR | c.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=) | |
7 | g.117627570G>T | CA368996206 | CFTR | c.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 |
7 | g.117627571G>A | CA368996209 | CFTR | c.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 |
7 | g.117627571G>C | CA368996212 | CFTR | c.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) | |
7 | g.117627571G>T | CA368996210 | CFTR | c.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) | |
7 | g.117627572T>A | CA457231190 | CFTR | c.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=) | |
7 | g.117627572T>C | CA457231191 | CFTR | c.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=) | |
7 | g.117627572T>G | CA457231192 | CFTR | c.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=) | |
7 | g.117627573A>C | CA368996215 | CFTR | c.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) | |
7 | g.117627573A>G | CA368996217 | CFTR | c.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) | |
7 | g.117627573A>T | CA368996218 | CFTR | c.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) | |
7 | g.117627574A= | CA1737398628 | CFTR | c.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=) | |
7 | g.117627574A>C | CA4451490 | CFTR | c.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 |
7 | g.117627574A>G | CA368996221 | CFTR | c.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) | |
7 | g.117627574A>T | CA368996223 | CFTR | c.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) | |
7 | g.117627578_117627590del | CA2580076327 | CFTR | c.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 |
7 | g.117627575A>C | CA368996224 | CFTR | c.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) | |
7 | g.117627575A>G | CA457231193 | CFTR | c.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=) | |
7 | g.117627575A>T | CA368996226 | CFTR | c.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) | |
7 | g.117627576C>A | CA368996228 | CFTR | c.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) | |
7 | g.117627576C>G | CA368996229 | CFTR | c.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) | |
7 | g.117627576C>T | CA368996231 | CFTR | c.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 |
7 | g.117627577C>A | CA368996234 | CFTR | c.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) | |
7 | g.117627577C>G | CA368996239 | CFTR | c.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) | |
7 | g.117627577C>T | CA368996238 | CFTR | c.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 |
7 | g.117627578T>A | CA457231196 | CFTR | c.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=) | |
7 | g.117627578T>C | CA457231194 | CFTR | c.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=) | |
7 | g.117627578T>G | CA457231195 | CFTR | c.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=) | |
7 | g.117627579A>C | CA368996242 | CFTR | c.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) | |
7 | g.117627579A>G | CA368996244 | CFTR | c.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) | |
7 | g.117627579A>T | CA368996246 | CFTR | c.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) | |
7 | g.117627579_117627580delinsAC | CA1737398629 | CFTR | c.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=) | |
7 | g.117627580C>A | CA368996250 | CFTR | c.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) | |
7 | g.117627580C>G | CA368996252 | CFTR | c.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 |
7 | g.117627580C>T | CA368996254 | CFTR | c.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) | |
7 | g.117627581dup | CA164976506 | CFTR | c.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) | |
7 | g.117627581del | CA342839 | CFTR | c.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 |
7 | g.117627581C>A | CA457231197 | CFTR | c.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=) | |
7 | g.117627581C>G | CA457231198 | CFTR | c.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=) | |
7 | g.117627581C>T | CA457231199 | CFTR | c.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 |
7 | g.117627581_117627582delinsCA | CA1737398630 | CFTR | c.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=) | |
7 | g.117627582A= | CA1737398631 | CFTR | c.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=) | |
7 | g.117627582A>C | CA368996262 | CFTR | c.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) | |
7 | g.117627582A>G | CA368996261 | CFTR | c.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 |
7 | g.117627582A>T | CA327223 | CFTR | c.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 |
7 | g.117627583del | CA327225 | CFTR | c.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 |
7 | g.117627583A= | CA1737398632 | CFTR | c.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=) | |
7 | g.117627583A>C | CA4451492 | CFTR | c.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 |
7 | g.117627583A>G | CA4451491 | CFTR | c.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 |
7 | g.117627583A>T | CA368996265 | CFTR | c.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) | |
7 | g.117627584G>A | CA4451493 | CFTR | c.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 |
7 | g.117627584G>C | CA368996270 | CFTR | c.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 |
7 | g.117627584G= | CA1737398633 | CFTR | c.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=) | |
7 | g.117627584G>T | CA368996272 | CFTR | c.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) | |
7 | g.117627585T>A | CA368996276 | CFTR | c.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 |
7 | g.117627585T>C | CA368996278 | CFTR | c.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) | |
7 | g.117627585T>G | CA368996280 | CFTR | c.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) | |
7 | g.117627585_117627588dup | CA254117 | CFTR | c.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 |
7 | g.117627585_117627589delinsTCAAC | CA1737398634 | CFTR | c.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=) | |
7 | g.117627586C>A | CA16041137 | CFTR | c.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 |
7 | g.117627586C= | CA1737398635 | CFTR | c.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=) | |
7 | g.117627586C>G | CA368996286 | CFTR | c.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) | |
7 | g.117627586C>T | CA368996288 | CFTR | c.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 |
7 | g.117627589_117627592del | CA327226 | CFTR | c.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 |
7 | g.117627587A= | CA1737398636 | CFTR | c.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=) | |
7 | g.117627587A>C | CA457231200 | CFTR | c.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 |
7 | g.117627587A>G | CA457231201 | CFTR | c.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 |
7 | g.117627587A>T | CA457231202 | CFTR | c.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=) | |
7 | g.117627588A>C | CA368996299 | CFTR | c.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) | |
7 | g.117627588A>G | CA368996297 | CFTR | c.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) | |
7 | g.117627588A>T | CA368996295 | CFTR | c.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) | |
7 | g.117627589C>A | CA368996302 | CFTR | c.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) | |
7 | g.117627589C>G | CA368996304 | CFTR | c.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) | |
7 | g.117627589C>T | CA368996305 | CFTR | c.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 |
7 | g.117627590C>A | CA457231203 | CFTR | c.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=) | |
7 | g.117627590C= | CA1737398638 | CFTR | c.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=) | |
7 | g.117627590C>G | CA457231204 | CFTR | c.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=) | |
7 | g.117627590C>T | CA4451494 | CFTR | c.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 |
7 | g.117627590_117627591delinsCA | CA1737398637 | CFTR | c.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=) | |
7 | g.117627591A>C | CA368996307 | CFTR | c.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) | |
7 | g.117627591A>G | CA368996309 | CFTR | c.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) | |
7 | g.117627591A>T | CA368996311 | CFTR | c.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) | |
7 | g.117627593del | CA327227 | CFTR | c.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 |
7 | g.117627592A>C | CA368996315 | CFTR | c.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) | |
7 | g.117627592A>G | CA368996316 | CFTR | c.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) | |
7 | g.117627592A>T | CA368996317 | CFTR | c.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) | |
7 | g.117627592_117627607del | CA2580076335 | CFTR | c.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 |
7 | g.117627593A>C | CA368996318 | CFTR | c.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) | |
7 | g.117627593A>G | CA457231205 | CFTR | c.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=) | |
7 | g.117627593A>T | CA368996319 | CFTR | c.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) | |
7 | g.117627594C>A | CA368996324 | CFTR | c.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) | |
7 | g.117627594C>G | CA368996326 | CFTR | c.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) | |
7 | g.117627594C>T | CA368996322 | CFTR | c.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) | |
7 | g.117627595C>A | CA4451495 | CFTR | c.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 |
7 | g.117627595C= | CA1737398639 | CFTR | c.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=) | |
7 | g.117627595C>G | CA368996329 | CFTR | c.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 |
7 | g.117627595C>T | CA368996331 | CFTR | c.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 |
7 | g.117627595_117627596insGTACATTTTATTATAATATACCGGTT | CA2684620079 | CFTR | c.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 |
7 | g.117627596A= | CA1737398640 | CFTR | c.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=) | |
7 | g.117627596A>C | CA457231206 | CFTR | c.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=) | |
7 | g.117627596A>G | CA457231207 | CFTR | c.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 |
7 | g.117627596A>T | CA457231208 | CFTR | c.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=) | |
7 | g.117627597T>A | CA368996333 | CFTR | c.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) | |
7 | g.117627597T>C | CA4451496 | CFTR | c.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 |
7 | g.117627597T>G | CA368996335 | CFTR | c.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) | |
7 | g.117627597T= | CA1737398641 | CFTR | c.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=) | |
7 | g.117627598A>C | CA368996341 | CFTR | c.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) | |
7 | g.117627598A>G | CA368996338 | CFTR | c.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) | |
7 | g.117627598A>T | CA368996340 | CFTR | c.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) | |
7 | g.117627598_117627599delinsAC | CA1737398642 | CFTR | c.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=) | |
7 | g.117627599del | CA1139660069 | CFTR | c.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 |
7 | g.117627599C>A | CA368996342 | CFTR | c.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) | ClinVar dbSNP |
7 | g.117627599C= | CA1737398643 | CFTR | c.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=) | |
7 | g.117627599C>G | CA327228 | CFTR | c.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 |
7 | g.117627599C>T | CA457231209 | CFTR | c.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 |
7 | g.117627600A>C | CA368996346 | CFTR | c.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) | |
7 | g.117627600A>G | CA368996347 | CFTR | c.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) | ClinVar gnomAD v4 |
7 | g.117627600A>T | CA368996349 | CFTR | c.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 |
7 | g.117627601A>C | CA368996353 | CFTR | c.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) | |
7 | g.117627601A>G | CA368996351 | CFTR | c.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) | |
7 | g.117627601A>T | CA368996352 | CFTR | c.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) | |
7 | g.117627602G>A | CA457231210 | CFTR | c.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=) | |
7 | g.117627602G>C | CA368996354 | CFTR | c.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 |
7 | g.117627602G= | CA1737398644 | CFTR | c.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=) | |
7 | g.117627602G>T | CA368996356 | CFTR | c.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) | |
7 | g.117627603A>C | CA368996359 | CFTR | c.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) | |
7 | g.117627603A>G | CA368996361 | CFTR | c.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) | |
7 | g.117627603A>T | CA368996363 | CFTR | c.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) | |
7 | g.117627604A= | CA1737398645 | CFTR | c.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=) | |
7 | g.117627604A>C | CA368996365 | CFTR | c.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) | |
7 | g.117627604A>G | CA368996367 | CFTR | c.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) | |
7 | g.117627604A>T | CA368996368 | CFTR | c.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 |
7 | g.117627605del | CA2579000254 | CFTR | c.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) | |
7 | g.117627605T>A | CA368996369 | CFTR | c.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 |
7 | g.117627605T>C | CA457231213 | CFTR | c.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 |
7 | g.117627605T>G | CA368996371 | CFTR | c.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) | |
7 | g.117627605T= | CA1737398646 | CFTR | c.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=) | |
7 | g.117627606G>A | CA368996373 | CFTR | c.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 |
7 | g.117627606G>C | CA368996374 | CFTR | c.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) | |
7 | g.117627606G>T | CA368996376 | CFTR | c.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) | |
7 | g.117627607G>A | CA164976563 | CFTR | c.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 |
7 | g.117627607G>C | CA368996380 | CFTR | c.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) | |
7 | g.117627607G= | CA1737398647 | CFTR | c.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=) | |
7 | g.117627607G>T | CA368996379 | CFTR | c.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) | |
7 | g.117627608C>A | CA457231215 | CFTR | c.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 |
7 | g.117627608C>G | CA457231217 | CFTR | c.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=) | |
7 | g.117627608C>T | CA457231219 | CFTR | c.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 |
7 | g.117627609C>A | CA368996382 | CFTR | c.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) | |
7 | g.117627609C= | CA1737398648 | CFTR | c.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=) | |
7 | g.117627609C>G | CA368996384 | CFTR | c.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) | |
7 | g.117627609C>T | CA327230 | CFTR | c.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 |
7 | g.117627610A>C | CA368996388 | CFTR | c.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) | |
7 | g.117627610A>G | CA368996389 | CFTR | c.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) | |
7 | g.117627610A>T | CA368996391 | CFTR | c.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) | |
7 | g.117627611del | CA2695208376 | CFTR | c.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) | |
7 | g.117627611A= | CA1737398649 | CFTR | c.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=) | |
7 | g.117627611A>C | CA368996393 | CFTR | c.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 |
7 | g.117627611A>G | CA260235 | CFTR | c.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 |
7 | g.117627611A>T | CA368996396 | CFTR | c.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) | |
7 | g.117627612C>A | CA4451497 | CFTR | c.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 |
7 | g.117627612C= | CA1737398650 | CFTR | c.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=) | |
7 | g.117627612C>G | CA4451498 | CFTR | c.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 |
7 | g.117627612C>T | CA368996400 | CFTR | c.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 |
7 | g.117627613T>A | CA368996407 | CFTR | c.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) | |
7 | g.117627613T>C | CA368996405 | CFTR | c.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) | |
7 | g.117627613T>G | CA368996402 | CFTR | c.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) | |
7 | g.117627614C>A | CA457231222 | CFTR | c.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=) | |
7 | g.117627614C>G | CA457231223 | CFTR | c.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=) | |
7 | g.117627614C>T | CA457231224 | CFTR | c.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=) | |
7 | g.117627615T>A | CA368996408 | CFTR | c.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) | |
7 | g.117627615T>C | CA4451499 | CFTR | c.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 |
7 | g.117627615T>G | CA368996411 | CFTR | c.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) | |
7 | g.117627615T= | CA1737398651 | CFTR | c.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=) | |
7 | g.117627616C>A | CA368996413 | CFTR | c.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 |
7 | g.117627616C= | CA1737398652 | CFTR | c.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=) | |
7 | g.117627616C>G | CA368996415 | CFTR | c.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) | |
7 | g.117627616C>T | CA164976575 | CFTR | c.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 |
7 | g.117627617G>A | CA221027 | CFTR | c.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 |
7 | g.117627617G>C | CA457231227 | CFTR | c.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=) | |
7 | g.117627617G= | CA1737398653 | CFTR | c.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=) | |
7 | g.117627617G>T | CA457231226 | CFTR | c.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=) | |
7 | g.117627617_117627643dup | CA2580614244 | CFTR | c.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 |
7 | g.117627618A>C | CA368996419 | CFTR | c.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) | |
7 | g.117627618A>G | CA368996420 | CFTR | c.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 |
7 | g.117627618A>T | CA368996422 | CFTR | c.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) | |
7 | g.117627620dup | CA2580076339 | CFTR | c.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 |
7 | g.117627619A>C | CA368996425 | CFTR | c.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) | |
7 | g.117627619A>G | CA368996426 | CFTR | c.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) | |
7 | g.117627619A>T | CA368996428 | CFTR | c.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) | |
7 | g.117627620A>C | CA368996430 | CFTR | c.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) | |
7 | g.117627620A>G | CA457231231 | CFTR | c.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 |
7 | g.117627620A>T | CA368996432 | CFTR | c.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) | |
7 | g.117627621G>A | CA368996433 | CFTR | c.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 |
7 | g.117627621G>C | CA368996438 | CFTR | c.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 |
7 | g.117627621G>T | CA368996436 | CFTR | c.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 |
7 | g.117627621_117627623delinsGTT | CA1737398654 | CFTR | c.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=) | |
7 | g.117627622T>A | CA368996439 | CFTR | c.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) | |
7 | g.117627622T>C | CA368996440 | CFTR | c.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) | |
7 | g.117627622T>G | CA368996441 | CFTR | c.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) | |
7 | g.117627622_117627623del | CA913189837 | CFTR | c.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 |
7 | g.117627623T>A | CA457231234 | CFTR | c.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=) | |
7 | g.117627623T>C | CA457231233 | CFTR | c.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=) | |
7 | g.117627623T>G | CA457231232 | CFTR | c.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=) | |
7 | g.117627624A= | CA1737398655 | CFTR | c.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=) | |
7 | g.117627624A>C | CA368996444 | CFTR | c.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 |
7 | g.117627624A>G | CA368996446 | CFTR | c.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 |
7 | g.117627624A>T | CA368996447 | CFTR | c.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) | |
7 | g.117627624dup | CA2580076340 | CFTR | c.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 |
7 | g.117627625T>A | CA368996451 | CFTR | c.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) | |
7 | g.117627625T>C | CA4451500 | CFTR | c.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 |
7 | g.117627625T>G | CA368996449 | CFTR | c.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 |
7 | g.117627625T= | CA1737398656 | CFTR | c.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=) | |
7 | g.117627626G>A | CA368996452 | CFTR | c.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 |
7 | g.117627626G>C | CA368996454 | CFTR | c.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 |
7 | g.117627626G= | CA1737398657 | CFTR | c.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=) | |
7 | g.117627626G>T | CA368996456 | CFTR | c.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 |
7 | g.117627627A= | CA1737398658 | CFTR | c.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=) | |
7 | g.117627627A>C | CA368996458 | CFTR | c.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) | |
7 | g.117627627A>G | CA368996460 | CFTR | c.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) | |
7 | g.117627627A>T | CA368996462 | CFTR | c.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 |
7 | g.117627628T>A | CA368996464 | CFTR | c.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) | |
7 | g.117627628T>C | CA368996468 | CFTR | c.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 |
7 | g.117627628T>G | CA368996466 | CFTR | c.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 |
7 | g.117627629T>A | CA457231242 | CFTR | c.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=) | |
7 | g.117627629T>C | CA457231240 | CFTR | c.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=) | |
7 | g.117627629T>G | CA368996470 | CFTR | c.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) | |
7 | g.117627630A= | CA1737398659 | CFTR | c.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=) | |
7 | g.117627630A>C | CA368996471 | CFTR | c.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) | |
7 | g.117627630A>G | CA368996473 | CFTR | c.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 |
7 | g.117627630A>T | CA368996475 | CFTR | c.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) | |
7 | g.117627631T>A | CA368996477 | CFTR | c.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) | |
7 | g.117627631T>C | CA368996479 | CFTR | c.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 |
7 | g.117627631T>G | CA368996481 | CFTR | c.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) | |
7 | g.117627632T>A | CA457231247 | CFTR | c.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=) | |
7 | g.117627632T>C | CA457231248 | CFTR | c.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=) | |
7 | g.117627632T>G | CA368996483 | CFTR | c.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) | |
7 | g.117627633G>A | CA368997029 | CFTR | c.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) | |
7 | g.117627633G>C | CA368997031 | CFTR | c.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) | |
7 | g.117627633G>T | CA368997032 | CFTR | c.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) | |
7 | g.117627634A>C | CA368997034 | CFTR | c.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) | |
7 | g.117627634A>G | CA368997038 | CFTR | c.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) | |
7 | g.117627634A>T | CA368997036 | CFTR | c.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) | |
7 | g.117627635G>A | CA457231395 | CFTR | c.3517+65G>A (n.3517+65G>A) c.*3296G>A (n.*3296G>A) c.3399G>A (p.Glu1133=) c.3582G>A (p.Glu1194=) c.*235G>A (n.*235G>A) c.*243G>A (n.*243G>A) c.*1957G>A (n.*1957G>A) c.3576G>A (p.Glu1192=) c.*3406G>A (n.*3406G>A) c.3156G>A (p.Glu1052=) c.330G>A (p.Glu110=) c.1369G>A (n.1369G>A) c.164G>A c.1167+65G>A c.2364G>A (p.Glu788=) c.3492G>A (p.Glu1164=) c.407G>A c.3672G>A (p.Glu1224=) c.3339G>A (p.Glu1113=) | |
7 | g.117627635G>C | CA368997040 | CFTR | c.3517+65G>C (n.3517+65G>C) c.*3296G>C (n.*3296G>C) c.3399G>C (p.Glu1133Asp) c.3582G>C (p.Glu1194Asp) c.*235G>C (n.*235G>C) c.*243G>C (n.*243G>C) c.*1957G>C (n.*1957G>C) c.3576G>C (p.Glu1192Asp) c.*3406G>C (n.*3406G>C) c.3156G>C (p.Glu1052Asp) c.330G>C (p.Glu110Asp) c.1369G>C (n.1369G>C) c.164G>C c.1167+65G>C c.2364G>C (p.Glu788Asp) c.3492G>C (p.Glu1164Asp) c.407G>C c.3672G>C (p.Glu1224Asp) c.3339G>C (p.Glu1113Asp) | |
7 | g.117627635G>T | CA368997042 | CFTR | c.3517+65G>T (n.3517+65G>T) c.*3296G>T (n.*3296G>T) c.3399G>T (p.Glu1133Asp) c.3582G>T (p.Glu1194Asp) c.*235G>T (n.*235G>T) c.*243G>T (n.*243G>T) c.*1957G>T (n.*1957G>T) c.3576G>T (p.Glu1192Asp) c.*3406G>T (n.*3406G>T) c.3156G>T (p.Glu1052Asp) c.330G>T (p.Glu110Asp) c.1369G>T (n.1369G>T) c.164G>T c.1167+65G>T c.2364G>T (p.Glu788Asp) c.3492G>T (p.Glu1164Asp) c.407G>T c.3672G>T (p.Glu1224Asp) c.3339G>T (p.Glu1113Asp) | |
7 | g.117627636A>C | CA368997044 | CFTR | c.3517+66A>C (n.3517+66A>C) c.*3297A>C (n.*3297A>C) c.3400A>C (p.Asn1134His) c.3583A>C (p.Asn1195His) c.*236A>C (n.*236A>C) c.*244A>C (n.*244A>C) c.*1958A>C (n.*1958A>C) c.3577A>C (p.Asn1193His) c.*3407A>C (n.*3407A>C) c.3157A>C (p.Asn1053His) c.331A>C (p.Asn111His) c.1370A>C (n.1370A>C) c.165A>C c.1167+66A>C c.2365A>C (p.Asn789His) c.3493A>C (p.Asn1165His) c.408A>C c.3673A>C (p.Asn1225His) c.3340A>C (p.Asn1114His) | |
7 | g.117627636A>G | CA368997046 | CFTR | c.3517+66A>G (n.3517+66A>G) c.*3297A>G (n.*3297A>G) c.3400A>G (p.Asn1134Asp) c.3583A>G (p.Asn1195Asp) c.*236A>G (n.*236A>G) c.*244A>G (n.*244A>G) c.*1958A>G (n.*1958A>G) c.3577A>G (p.Asn1193Asp) c.*3407A>G (n.*3407A>G) c.3157A>G (p.Asn1053Asp) c.331A>G (p.Asn111Asp) c.1370A>G (n.1370A>G) c.165A>G c.1167+66A>G c.2365A>G (p.Asn789Asp) c.3493A>G (p.Asn1165Asp) c.408A>G c.3673A>G (p.Asn1225Asp) c.3340A>G (p.Asn1114Asp) | |
7 | g.117627636A>T | CA368997048 | CFTR | c.3517+66A>T (n.3517+66A>T) c.*3297A>T (n.*3297A>T) c.3400A>T (p.Asn1134Tyr) c.3583A>T (p.Asn1195Tyr) c.*236A>T (n.*236A>T) c.*244A>T (n.*244A>T) c.*1958A>T (n.*1958A>T) c.3577A>T (p.Asn1193Tyr) c.*3407A>T (n.*3407A>T) c.3157A>T (p.Asn1053Tyr) c.331A>T (p.Asn111Tyr) c.1370A>T (n.1370A>T) c.165A>T c.1167+66A>T c.2365A>T (p.Asn789Tyr) c.3493A>T (p.Asn1165Tyr) c.408A>T c.3673A>T (p.Asn1225Tyr) c.3340A>T (p.Asn1114Tyr) | |
7 | g.117627637A= | CA1737398660 | CFTR | c.3517+67A= (n.3517+67A=) c.*3298A= (n.*3298A=) c.3401A= (p.Asn1134=) c.3584A= (p.Asn1195=) c.*237A= (n.*237A=) c.*245A= (n.*245A=) c.*1959A= (n.*1959A=) c.3578A= (p.Asn1193=) c.*3408A= (n.*3408A=) c.3158A= (p.Asn1053=) c.332A= (p.Asn111=) c.1371A= (n.1371A=) c.166A= c.1167+67A= c.2366A= (p.Asn789=) c.3494A= (p.Asn1165=) c.409A= c.3674A= (p.Asn1225=) c.3341A= (p.Asn1114=) | |
7 | g.117627637A>C | CA327233 | CFTR | c.3517+67A>C (n.3517+67A>C) c.*3298A>C (n.*3298A>C) c.3401A>C (p.Asn1134Thr) c.3584A>C (p.Asn1195Thr) c.*237A>C (n.*237A>C) c.*245A>C (n.*245A>C) c.*1959A>C (n.*1959A>C) c.3578A>C (p.Asn1193Thr) c.*3408A>C (n.*3408A>C) c.3158A>C (p.Asn1053Thr) c.332A>C (p.Asn111Thr) c.1371A>C (n.1371A>C) c.166A>C c.1167+67A>C c.2366A>C (p.Asn789Thr) c.3494A>C (p.Asn1165Thr) c.409A>C c.3674A>C (p.Asn1225Thr) c.3341A>C (p.Asn1114Thr) | dbSNP |
7 | g.117627637A>G | CA368997051 | CFTR | c.3517+67A>G (n.3517+67A>G) c.*3298A>G (n.*3298A>G) c.3401A>G (p.Asn1134Ser) c.3584A>G (p.Asn1195Ser) c.*237A>G (n.*237A>G) c.*245A>G (n.*245A>G) c.*1959A>G (n.*1959A>G) c.3578A>G (p.Asn1193Ser) c.*3408A>G (n.*3408A>G) c.3158A>G (p.Asn1053Ser) c.332A>G (p.Asn111Ser) c.1371A>G (n.1371A>G) c.166A>G c.1167+67A>G c.2366A>G (p.Asn789Ser) c.3494A>G (p.Asn1165Ser) c.409A>G c.3674A>G (p.Asn1225Ser) c.3341A>G (p.Asn1114Ser) | dbSNP |
7 | g.117627637A>T | CA368997053 | CFTR | c.3517+67A>T (n.3517+67A>T) c.*3298A>T (n.*3298A>T) c.3401A>T (p.Asn1134Ile) c.3584A>T (p.Asn1195Ile) c.*237A>T (n.*237A>T) c.*245A>T (n.*245A>T) c.*1959A>T (n.*1959A>T) c.3578A>T (p.Asn1193Ile) c.*3408A>T (n.*3408A>T) c.3158A>T (p.Asn1053Ile) c.332A>T (p.Asn111Ile) c.1371A>T (n.1371A>T) c.166A>T c.1167+67A>T c.2366A>T (p.Asn789Ile) c.3494A>T (p.Asn1165Ile) c.409A>T c.3674A>T (p.Asn1225Ile) c.3341A>T (p.Asn1114Ile) | |
7 | g.117627638T>A | CA368997055 | CFTR | c.3517+68T>A (n.3517+68T>A) c.*3299T>A (n.*3299T>A) c.3402T>A (p.Asn1134Lys) c.3585T>A (p.Asn1195Lys) c.*238T>A (n.*238T>A) c.*246T>A (n.*246T>A) c.*1960T>A (n.*1960T>A) c.3579T>A (p.Asn1193Lys) c.*3409T>A (n.*3409T>A) c.3159T>A (p.Asn1053Lys) c.333T>A (p.Asn111Lys) c.1372T>A (n.1372T>A) c.167T>A c.1167+68T>A c.2367T>A (p.Asn789Lys) c.3495T>A (p.Asn1165Lys) c.410T>A c.3675T>A (p.Asn1225Lys) c.3342T>A (p.Asn1114Lys) | ClinVar |
7 | g.117627638T>C | CA457231397 | CFTR | c.3517+68T>C (n.3517+68T>C) c.*3299T>C (n.*3299T>C) c.3402T>C (p.Asn1134=) c.3585T>C (p.Asn1195=) c.*238T>C (n.*238T>C) c.*246T>C (n.*246T>C) c.*1960T>C (n.*1960T>C) c.3579T>C (p.Asn1193=) c.*3409T>C (n.*3409T>C) c.3159T>C (p.Asn1053=) c.333T>C (p.Asn111=) c.1372T>C (n.1372T>C) c.167T>C c.1167+68T>C c.2367T>C (p.Asn789=) c.3495T>C (p.Asn1165=) c.410T>C c.3675T>C (p.Asn1225=) c.3342T>C (p.Asn1114=) | |
7 | g.117627638T>G | CA368997057 | CFTR | c.3517+68T>G (n.3517+68T>G) c.*3299T>G (n.*3299T>G) c.3402T>G (p.Asn1134Lys) c.3585T>G (p.Asn1195Lys) c.*238T>G (n.*238T>G) c.*246T>G (n.*246T>G) c.*1960T>G (n.*1960T>G) c.3579T>G (p.Asn1193Lys) c.*3409T>G (n.*3409T>G) c.3159T>G (p.Asn1053Lys) c.333T>G (p.Asn111Lys) c.1372T>G (n.1372T>G) c.167T>G c.1167+68T>G c.2367T>G (p.Asn789Lys) c.3495T>G (p.Asn1165Lys) c.410T>G c.3675T>G (p.Asn1225Lys) c.3342T>G (p.Asn1114Lys) | ClinVar |
7 | g.117627639del | CA2684620080 | CFTR | c.3517+69del (n.3517+69del) c.*3300del (n.*3300del) c.3403del (p.Ser1135HisfsTer3) c.3586del (p.Ser1196HisfsTer3) c.*239del (n.*239del) c.*247del (n.*247del) c.*1961del (n.*1961del) c.3580del (p.Ser1194HisfsTer3) c.*3410del (n.*3410del) c.3160del (p.Ser1054HisfsTer3) c.334del (p.Ser112HisfsTer3) c.1373del (n.1373del) c.168del c.1167+69del c.2368del (p.Ser790HisfsTer3) c.3496del (p.Ser1166HisfsTer3) c.411del c.3676del (p.Ser1226HisfsTer3) c.3343del (p.Ser1115HisfsTer3) | gnomAD v4 |
7 | g.117627639T>A | CA368997059 | CFTR | c.3517+69T>A (n.3517+69T>A) c.*3300T>A (n.*3300T>A) c.3403T>A (p.Ser1135Thr) c.3586T>A (p.Ser1196Thr) c.*239T>A (n.*239T>A) c.*247T>A (n.*247T>A) c.*1961T>A (n.*1961T>A) c.3580T>A (p.Ser1194Thr) c.*3410T>A (n.*3410T>A) c.3160T>A (p.Ser1054Thr) c.334T>A (p.Ser112Thr) c.1373T>A (n.1373T>A) c.168T>A c.1167+69T>A c.2368T>A (p.Ser790Thr) c.3496T>A (p.Ser1166Thr) c.411T>A c.3676T>A (p.Ser1226Thr) c.3343T>A (p.Ser1115Thr) | |
7 | g.117627639T>C | CA368997061 | CFTR | c.3517+69T>C (n.3517+69T>C) c.*3300T>C (n.*3300T>C) c.3403T>C (p.Ser1135Pro) c.3586T>C (p.Ser1196Pro) c.*239T>C (n.*239T>C) c.*247T>C (n.*247T>C) c.*1961T>C (n.*1961T>C) c.3580T>C (p.Ser1194Pro) c.*3410T>C (n.*3410T>C) c.3160T>C (p.Ser1054Pro) c.334T>C (p.Ser112Pro) c.1373T>C (n.1373T>C) c.168T>C c.1167+69T>C c.2368T>C (p.Ser790Pro) c.3496T>C (p.Ser1166Pro) c.411T>C c.3676T>C (p.Ser1226Pro) c.3343T>C (p.Ser1115Pro) | dbSNP |
7 | g.117627639T>G | CA368997063 | CFTR | c.3517+69T>G (n.3517+69T>G) c.*3300T>G (n.*3300T>G) c.3403T>G (p.Ser1135Ala) c.3586T>G (p.Ser1196Ala) c.*239T>G (n.*239T>G) c.*247T>G (n.*247T>G) c.*1961T>G (n.*1961T>G) c.3580T>G (p.Ser1194Ala) c.*3410T>G (n.*3410T>G) c.3160T>G (p.Ser1054Ala) c.334T>G (p.Ser112Ala) c.1373T>G (n.1373T>G) c.168T>G c.1167+69T>G c.2368T>G (p.Ser790Ala) c.3496T>G (p.Ser1166Ala) c.411T>G c.3676T>G (p.Ser1226Ala) c.3343T>G (p.Ser1115Ala) | |
7 | g.117627639T= | CA1737398661 | CFTR | c.3517+69T= (n.3517+69T=) c.*3300T= (n.*3300T=) c.3403T= (p.Ser1135=) c.3586T= (p.Ser1196=) c.*239T= (n.*239T=) c.*247T= (n.*247T=) c.*1961T= (n.*1961T=) c.3580T= (p.Ser1194=) c.*3410T= (n.*3410T=) c.3160T= (p.Ser1054=) c.334T= (p.Ser112=) c.1373T= (n.1373T=) c.168T= c.1167+69T= c.2368T= (p.Ser790=) c.3496T= (p.Ser1166=) c.411T= c.3676T= (p.Ser1226=) c.3343T= (p.Ser1115=) | |
7 | g.117627640C>A | CA368997066 | CFTR | c.3517+70C>A (n.3517+70C>A) c.*3301C>A (n.*3301C>A) c.3404C>A (p.Ser1135Ter) c.3587C>A (p.Ser1196Ter) c.*240C>A (n.*240C>A) c.*248C>A (n.*248C>A) c.*1962C>A (n.*1962C>A) c.3581C>A (p.Ser1194Ter) c.*3411C>A (n.*3411C>A) c.3161C>A (p.Ser1054Ter) c.335C>A (p.Ser112Ter) c.1374C>A (n.1374C>A) c.169C>A c.1167+70C>A c.2369C>A (p.Ser790Ter) c.3497C>A (p.Ser1166Ter) c.412C>A c.3677C>A (p.Ser1226Ter) c.3344C>A (p.Ser1115Ter) | ClinVar dbSNP COSMIC |
7 | g.117627640C= | CA1737398662 | CFTR | c.3517+70C= (n.3517+70C=) c.*3301C= (n.*3301C=) c.3404C= (p.Ser1135=) c.3587C= (p.Ser1196=) c.*240C= (n.*240C=) c.*248C= (n.*248C=) c.*1962C= (n.*1962C=) c.3581C= (p.Ser1194=) c.*3411C= (n.*3411C=) c.3161C= (p.Ser1054=) c.335C= (p.Ser112=) c.1374C= (n.1374C=) c.169C= c.1167+70C= c.2369C= (p.Ser790=) c.3497C= (p.Ser1166=) c.412C= c.3677C= (p.Ser1226=) c.3344C= (p.Ser1115=) | |
7 | g.117627640C>G | CA328116 | CFTR | c.3517+70C>G (n.3517+70C>G) c.*3301C>G (n.*3301C>G) c.3404C>G (p.Ser1135Ter) c.3587C>G (p.Ser1196Ter) c.*240C>G (n.*240C>G) c.*248C>G (n.*248C>G) c.*1962C>G (n.*1962C>G) c.3581C>G (p.Ser1194Ter) c.*3411C>G (n.*3411C>G) c.3161C>G (p.Ser1054Ter) c.335C>G (p.Ser112Ter) c.1374C>G (n.1374C>G) c.169C>G c.1167+70C>G c.2369C>G (p.Ser790Ter) c.3497C>G (p.Ser1166Ter) c.412C>G c.3677C>G (p.Ser1226Ter) c.3344C>G (p.Ser1115Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627640C>T | CA368997067 | CFTR | c.3517+70C>T (n.3517+70C>T) c.*3301C>T (n.*3301C>T) c.3404C>T (p.Ser1135Leu) c.3587C>T (p.Ser1196Leu) c.*240C>T (n.*240C>T) c.*248C>T (n.*248C>T) c.*1962C>T (n.*1962C>T) c.3581C>T (p.Ser1194Leu) c.*3411C>T (n.*3411C>T) c.3161C>T (p.Ser1054Leu) c.335C>T (p.Ser112Leu) c.1374C>T (n.1374C>T) c.169C>T c.1167+70C>T c.2369C>T (p.Ser790Leu) c.3497C>T (p.Ser1166Leu) c.412C>T c.3677C>T (p.Ser1226Leu) c.3344C>T (p.Ser1115Leu) | |
7 | g.117627641A= | CA1737398663 | CFTR | c.3517+71A= (n.3517+71A=) c.*3302A= (n.*3302A=) c.3405A= (p.Ser1135=) c.3588A= (p.Ser1196=) c.*241A= (n.*241A=) c.*249A= (n.*249A=) c.*1963A= (n.*1963A=) c.3582A= (p.Ser1194=) c.*3412A= (n.*3412A=) c.3162A= (p.Ser1054=) c.336A= (p.Ser112=) c.1375A= (n.1375A=) c.170A= c.1167+71A= c.2370A= (p.Ser790=) c.3498A= (p.Ser1166=) c.413A= c.3678A= (p.Ser1226=) c.3345A= (p.Ser1115=) | |
7 | g.117627641A>C | CA457231399 | CFTR | c.3517+71A>C (n.3517+71A>C) c.*3302A>C (n.*3302A>C) c.3405A>C (p.Ser1135=) c.3588A>C (p.Ser1196=) c.*241A>C (n.*241A>C) c.*249A>C (n.*249A>C) c.*1963A>C (n.*1963A>C) c.3582A>C (p.Ser1194=) c.*3412A>C (n.*3412A>C) c.3162A>C (p.Ser1054=) c.336A>C (p.Ser112=) c.1375A>C (n.1375A>C) c.170A>C c.1167+71A>C c.2370A>C (p.Ser790=) c.3498A>C (p.Ser1166=) c.413A>C c.3678A>C (p.Ser1226=) c.3345A>C (p.Ser1115=) | |
7 | g.117627641A>G | CA4451501 | CFTR | c.3517+71A>G (n.3517+71A>G) c.*3302A>G (n.*3302A>G) c.3405A>G (p.Ser1135=) c.3588A>G (p.Ser1196=) c.*241A>G (n.*241A>G) c.*249A>G (n.*249A>G) c.*1963A>G (n.*1963A>G) c.3582A>G (p.Ser1194=) c.*3412A>G (n.*3412A>G) c.3162A>G (p.Ser1054=) c.336A>G (p.Ser112=) c.1375A>G (n.1375A>G) c.170A>G c.1167+71A>G c.2370A>G (p.Ser790=) c.3498A>G (p.Ser1166=) c.413A>G c.3678A>G (p.Ser1226=) c.3345A>G (p.Ser1115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627641A>T | CA457231400 | CFTR | c.3517+71A>T (n.3517+71A>T) c.*3302A>T (n.*3302A>T) c.3405A>T (p.Ser1135=) c.3588A>T (p.Ser1196=) c.*241A>T (n.*241A>T) c.*249A>T (n.*249A>T) c.*1963A>T (n.*1963A>T) c.3582A>T (p.Ser1194=) c.*3412A>T (n.*3412A>T) c.3162A>T (p.Ser1054=) c.336A>T (p.Ser112=) c.1375A>T (n.1375A>T) c.170A>T c.1167+71A>T c.2370A>T (p.Ser790=) c.3498A>T (p.Ser1166=) c.413A>T c.3678A>T (p.Ser1226=) c.3345A>T (p.Ser1115=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627642C>A | CA368997072 | CFTR | c.3517+72C>A (n.3517+72C>A) c.*3303C>A (n.*3303C>A) c.3406C>A (p.His1136Asn) c.3589C>A (p.His1197Asn) c.*242C>A (n.*242C>A) c.*250C>A (n.*250C>A) c.*1964C>A (n.*1964C>A) c.3583C>A (p.His1195Asn) c.*3413C>A (n.*3413C>A) c.3163C>A (p.His1055Asn) c.337C>A (p.His113Asn) c.1376C>A (n.1376C>A) c.171C>A c.1167+72C>A c.2371C>A (p.His791Asn) c.3499C>A (p.His1167Asn) c.414C>A c.3679C>A (p.His1227Asn) c.3346C>A (p.His1116Asn) | |
7 | g.117627642C>G | CA368997074 | CFTR | c.3517+72C>G (n.3517+72C>G) c.*3303C>G (n.*3303C>G) c.3406C>G (p.His1136Asp) c.3589C>G (p.His1197Asp) c.*242C>G (n.*242C>G) c.*250C>G (n.*250C>G) c.*1964C>G (n.*1964C>G) c.3583C>G (p.His1195Asp) c.*3413C>G (n.*3413C>G) c.3163C>G (p.His1055Asp) c.337C>G (p.His113Asp) c.1376C>G (n.1376C>G) c.171C>G c.1167+72C>G c.2371C>G (p.His791Asp) c.3499C>G (p.His1167Asp) c.414C>G c.3679C>G (p.His1227Asp) c.3346C>G (p.His1116Asp) | |
7 | g.117627642C>T | CA368997076 | CFTR | c.3517+72C>T (n.3517+72C>T) c.*3303C>T (n.*3303C>T) c.3406C>T (p.His1136Tyr) c.3589C>T (p.His1197Tyr) c.*242C>T (n.*242C>T) c.*250C>T (n.*250C>T) c.*1964C>T (n.*1964C>T) c.3583C>T (p.His1195Tyr) c.*3413C>T (n.*3413C>T) c.3163C>T (p.His1055Tyr) c.337C>T (p.His113Tyr) c.1376C>T (n.1376C>T) c.171C>T c.1167+72C>T c.2371C>T (p.His791Tyr) c.3499C>T (p.His1167Tyr) c.414C>T c.3679C>T (p.His1227Tyr) c.3346C>T (p.His1116Tyr) | |
7 | g.117627643del | CA2684620081 | CFTR | c.3517+73del (n.3517+73del) c.*3304del (n.*3304del) c.3407del (p.His1136ProfsTer2) c.3590del (p.His1197ProfsTer2) c.*243del (n.*243del) c.*251del (n.*251del) c.*1965del (n.*1965del) c.3584del (p.His1195ProfsTer2) c.*3414del (n.*3414del) c.3164del (p.His1055ProfsTer2) c.338del (p.His113ProfsTer2) c.1377del (n.1377del) c.172del c.1167+73del c.2372del (p.His791ProfsTer2) c.3500del (p.His1167ProfsTer2) c.415del c.3680del (p.His1227ProfsTer2) c.3347del (p.His1116ProfsTer2) | gnomAD v4 |
7 | g.117627643A= | CA1737398664 | CFTR | c.3517+73A= (n.3517+73A=) c.*3304A= (n.*3304A=) c.3407A= (p.His1136=) c.3590A= (p.His1197=) c.*243A= (n.*243A=) c.*251A= (n.*251A=) c.*1965A= (n.*1965A=) c.3584A= (p.His1195=) c.*3414A= (n.*3414A=) c.3164A= (p.His1055=) c.338A= (p.His113=) c.1377A= (n.1377A=) c.172A= c.1167+73A= c.2372A= (p.His791=) c.3500A= (p.His1167=) c.415A= c.3680A= (p.His1227=) c.3347A= (p.His1116=) | |
7 | g.117627643A>C | CA368997077 | CFTR | c.3517+73A>C (n.3517+73A>C) c.*3304A>C (n.*3304A>C) c.3407A>C (p.His1136Pro) c.3590A>C (p.His1197Pro) c.*243A>C (n.*243A>C) c.*251A>C (n.*251A>C) c.*1965A>C (n.*1965A>C) c.3584A>C (p.His1195Pro) c.*3414A>C (n.*3414A>C) c.3164A>C (p.His1055Pro) c.338A>C (p.His113Pro) c.1377A>C (n.1377A>C) c.172A>C c.1167+73A>C c.2372A>C (p.His791Pro) c.3500A>C (p.His1167Pro) c.415A>C c.3680A>C (p.His1227Pro) c.3347A>C (p.His1116Pro) | |
7 | g.117627643A>G | CA4451502 | CFTR | c.3517+73A>G (n.3517+73A>G) c.*3304A>G (n.*3304A>G) c.3407A>G (p.His1136Arg) c.3590A>G (p.His1197Arg) c.*243A>G (n.*243A>G) c.*251A>G (n.*251A>G) c.*1965A>G (n.*1965A>G) c.3584A>G (p.His1195Arg) c.*3414A>G (n.*3414A>G) c.3164A>G (p.His1055Arg) c.338A>G (p.His113Arg) c.1377A>G (n.1377A>G) c.172A>G c.1167+73A>G c.2372A>G (p.His791Arg) c.3500A>G (p.His1167Arg) c.415A>G c.3680A>G (p.His1227Arg) c.3347A>G (p.His1116Arg) | ClinVar dbSNP ExAC gnomAD v4 |
7 | g.117627643A>T | CA4451503 | CFTR | c.3517+73A>T (n.3517+73A>T) c.*3304A>T (n.*3304A>T) c.3407A>T (p.His1136Leu) c.3590A>T (p.His1197Leu) c.*243A>T (n.*243A>T) c.*251A>T (n.*251A>T) c.*1965A>T (n.*1965A>T) c.3584A>T (p.His1195Leu) c.*3414A>T (n.*3414A>T) c.3164A>T (p.His1055Leu) c.338A>T (p.His113Leu) c.1377A>T (n.1377A>T) c.172A>T c.1167+73A>T c.2372A>T (p.His791Leu) c.3500A>T (p.His1167Leu) c.415A>T c.3680A>T (p.His1227Leu) c.3347A>T (p.His1116Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627644C>A | CA368997081 | CFTR | c.3517+74C>A (n.3517+74C>A) c.*3305C>A (n.*3305C>A) c.3408C>A (p.His1136Gln) c.3591C>A (p.His1197Gln) c.*244C>A (n.*244C>A) c.*252C>A (n.*252C>A) c.*1966C>A (n.*1966C>A) c.3585C>A (p.His1195Gln) c.*3415C>A (n.*3415C>A) c.3165C>A (p.His1055Gln) c.339C>A (p.His113Gln) c.1378C>A (n.1378C>A) c.173C>A c.1167+74C>A c.2373C>A (p.His791Gln) c.3501C>A (p.His1167Gln) c.416C>A c.3681C>A (p.His1227Gln) c.3348C>A (p.His1116Gln) | |
7 | g.117627644C= | CA1737398666 | CFTR | c.3517+74C= (n.3517+74C=) c.*3305C= (n.*3305C=) c.3408C= (p.His1136=) c.3591C= (p.His1197=) c.*244C= (n.*244C=) c.*252C= (n.*252C=) c.*1966C= (n.*1966C=) c.3585C= (p.His1195=) c.*3415C= (n.*3415C=) c.3165C= (p.His1055=) c.339C= (p.His113=) c.1378C= (n.1378C=) c.173C= c.1167+74C= c.2373C= (p.His791=) c.3501C= (p.His1167=) c.416C= c.3681C= (p.His1227=) c.3348C= (p.His1116=) | |
7 | g.117627644C>G | CA368997083 | CFTR | c.3517+74C>G (n.3517+74C>G) c.*3305C>G (n.*3305C>G) c.3408C>G (p.His1136Gln) c.3591C>G (p.His1197Gln) c.*244C>G (n.*244C>G) c.*252C>G (n.*252C>G) c.*1966C>G (n.*1966C>G) c.3585C>G (p.His1195Gln) c.*3415C>G (n.*3415C>G) c.3165C>G (p.His1055Gln) c.339C>G (p.His113Gln) c.1378C>G (n.1378C>G) c.173C>G c.1167+74C>G c.2373C>G (p.His791Gln) c.3501C>G (p.His1167Gln) c.416C>G c.3681C>G (p.His1227Gln) c.3348C>G (p.His1116Gln) | |
7 | g.117627644C>T | CA457231405 | CFTR | c.3517+74C>T (n.3517+74C>T) c.*3305C>T (n.*3305C>T) c.3408C>T (p.His1136=) c.3591C>T (p.His1197=) c.*244C>T (n.*244C>T) c.*252C>T (n.*252C>T) c.*1966C>T (n.*1966C>T) c.3585C>T (p.His1195=) c.*3415C>T (n.*3415C>T) c.3165C>T (p.His1055=) c.339C>T (p.His113=) c.1378C>T (n.1378C>T) c.173C>T c.1167+74C>T c.2373C>T (p.His791=) c.3501C>T (p.His1167=) c.416C>T c.3681C>T (p.His1227=) c.3348C>T (p.His1116=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627644_117627645delinsCG | CA1737398665 | CFTR | c.3517+74_3517+75delinsCG (n.3517+74_3517+75delinsCG) c.*3305_*3306delinsCG (n.*3305_*3306delinsCG) c.3408_3409delinsCG (p.His1136=) c.3591_3592delinsCG (p.His1197=) c.*244_*245delinsCG (n.*244_*245delinsCG) c.*252_*253delinsCG (n.*252_*253delinsCG) c.*1966_*1967delinsCG (n.*1966_*1967delinsCG) c.3585_3586delinsCG (p.His1195=) c.*3415_*3416delinsCG (n.*3415_*3416delinsCG) c.3165_3166delinsCG (p.His1055=) c.339_340delinsCG (p.His113=) c.1378_1379delinsCG (n.1378_1379delinsCG) c.173_174delinsCG c.1167+74_1167+75delinsCG c.2373_2374delinsCG (p.His791=) c.3501_3502delinsCG (p.His1167=) c.416_417delinsCG c.3681_3682delinsCG (p.His1227=) c.3348_3349delinsCG (p.His1116=) | |
7 | g.117627645del | CA327236 | CFTR | c.3517+75del (n.3517+75del) c.*3306del (n.*3306del) c.3409del (p.Val1137Ter) c.3592del (p.Val1198Ter) c.*245del (n.*245del) c.*253del (n.*253del) c.*1967del (n.*1967del) c.3586del (p.Val1196Ter) c.*3416del (n.*3416del) c.3166del (p.Val1056Ter) c.340del (p.Val114Ter) c.1379del (n.1379del) c.174del c.1167+75del c.2374del (p.Val792Ter) c.3502del (p.Val1168Ter) c.417del c.3682del (p.Val1228Ter) c.3349del (p.Val1117Ter) | ClinVar dbSNP |
7 | g.117627645G>A | CA4451504 | CFTR | c.3517+75G>A (n.3517+75G>A) c.*3306G>A (n.*3306G>A) c.3409G>A (p.Val1137Met) c.3592G>A (p.Val1198Met) c.*245G>A (n.*245G>A) c.*253G>A (n.*253G>A) c.*1967G>A (n.*1967G>A) c.3586G>A (p.Val1196Met) c.*3416G>A (n.*3416G>A) c.3166G>A (p.Val1056Met) c.340G>A (p.Val114Met) c.1379G>A (n.1379G>A) c.174G>A c.1167+75G>A c.2374G>A (p.Val792Met) c.3502G>A (p.Val1168Met) c.417G>A c.3682G>A (p.Val1228Met) c.3349G>A (p.Val1117Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627645G>C | CA368997088 | CFTR | c.3517+75G>C (n.3517+75G>C) c.*3306G>C (n.*3306G>C) c.3409G>C (p.Val1137Leu) c.3592G>C (p.Val1198Leu) c.*245G>C (n.*245G>C) c.*253G>C (n.*253G>C) c.*1967G>C (n.*1967G>C) c.3586G>C (p.Val1196Leu) c.*3416G>C (n.*3416G>C) c.3166G>C (p.Val1056Leu) c.340G>C (p.Val114Leu) c.1379G>C (n.1379G>C) c.174G>C c.1167+75G>C c.2374G>C (p.Val792Leu) c.3502G>C (p.Val1168Leu) c.417G>C c.3682G>C (p.Val1228Leu) c.3349G>C (p.Val1117Leu) | |
7 | g.117627645G= | CA1737398667 | CFTR | c.3517+75G= (n.3517+75G=) c.*3306G= (n.*3306G=) c.3409G= (p.Val1137=) c.3592G= (p.Val1198=) c.*245G= (n.*245G=) c.*253G= (n.*253G=) c.*1967G= (n.*1967G=) c.3586G= (p.Val1196=) c.*3416G= (n.*3416G=) c.3166G= (p.Val1056=) c.340G= (p.Val114=) c.1379G= (n.1379G=) c.174G= c.1167+75G= c.2374G= (p.Val792=) c.3502G= (p.Val1168=) c.417G= c.3682G= (p.Val1228=) c.3349G= (p.Val1117=) | |
7 | g.117627645G>T | CA4451505 | CFTR | c.3517+75G>T (n.3517+75G>T) c.*3306G>T (n.*3306G>T) c.3409G>T (p.Val1137Leu) c.3592G>T (p.Val1198Leu) c.*245G>T (n.*245G>T) c.*253G>T (n.*253G>T) c.*1967G>T (n.*1967G>T) c.3586G>T (p.Val1196Leu) c.*3416G>T (n.*3416G>T) c.3166G>T (p.Val1056Leu) c.340G>T (p.Val114Leu) c.1379G>T (n.1379G>T) c.174G>T c.1167+75G>T c.2374G>T (p.Val792Leu) c.3502G>T (p.Val1168Leu) c.417G>T c.3682G>T (p.Val1228Leu) c.3349G>T (p.Val1117Leu) | dbSNP ExAC gnomAD v2 |
7 | g.117627646T>A | CA368997093 | CFTR | c.3517+76T>A (n.3517+76T>A) c.*3307T>A (n.*3307T>A) c.3410T>A (p.Val1137Glu) c.3593T>A (p.Val1198Glu) c.*246T>A (n.*246T>A) c.*254T>A (n.*254T>A) c.*1968T>A (n.*1968T>A) c.3587T>A (p.Val1196Glu) c.*3417T>A (n.*3417T>A) c.3167T>A (p.Val1056Glu) c.341T>A (p.Val114Glu) c.1380T>A (n.1380T>A) c.175T>A c.1167+76T>A c.2375T>A (p.Val792Glu) c.3503T>A (p.Val1168Glu) c.418T>A c.3683T>A (p.Val1228Glu) c.3350T>A (p.Val1117Glu) | |
7 | g.117627646T>C | CA164976615 | CFTR | c.3517+76T>C (n.3517+76T>C) c.*3307T>C (n.*3307T>C) c.3410T>C (p.Val1137Ala) c.3593T>C (p.Val1198Ala) c.*246T>C (n.*246T>C) c.*254T>C (n.*254T>C) c.*1968T>C (n.*1968T>C) c.3587T>C (p.Val1196Ala) c.*3417T>C (n.*3417T>C) c.3167T>C (p.Val1056Ala) c.341T>C (p.Val114Ala) c.1380T>C (n.1380T>C) c.175T>C c.1167+76T>C c.2375T>C (p.Val792Ala) c.3503T>C (p.Val1168Ala) c.418T>C c.3683T>C (p.Val1228Ala) c.3350T>C (p.Val1117Ala) | dbSNP gnomAD v4 |
7 | g.117627646T>G | CA368997091 | CFTR | c.3517+76T>G (n.3517+76T>G) c.*3307T>G (n.*3307T>G) c.3410T>G (p.Val1137Gly) c.3593T>G (p.Val1198Gly) c.*246T>G (n.*246T>G) c.*254T>G (n.*254T>G) c.*1968T>G (n.*1968T>G) c.3587T>G (p.Val1196Gly) c.*3417T>G (n.*3417T>G) c.3167T>G (p.Val1056Gly) c.341T>G (p.Val114Gly) c.1380T>G (n.1380T>G) c.175T>G c.1167+76T>G c.2375T>G (p.Val792Gly) c.3503T>G (p.Val1168Gly) c.418T>G c.3683T>G (p.Val1228Gly) c.3350T>G (p.Val1117Gly) | |
7 | g.117627646T= | CA1737398668 | CFTR | c.3517+76T= (n.3517+76T=) c.*3307T= (n.*3307T=) c.3410T= (p.Val1137=) c.3593T= (p.Val1198=) c.*246T= (n.*246T=) c.*254T= (n.*254T=) c.*1968T= (n.*1968T=) c.3587T= (p.Val1196=) c.*3417T= (n.*3417T=) c.3167T= (p.Val1056=) c.341T= (p.Val114=) c.1380T= (n.1380T=) c.175T= c.1167+76T= c.2375T= (p.Val792=) c.3503T= (p.Val1168=) c.418T= c.3683T= (p.Val1228=) c.3350T= (p.Val1117=) | |
7 | g.117627647G>A | CA457231409 | CFTR | c.3517+77G>A (n.3517+77G>A) c.*3308G>A (n.*3308G>A) c.3411G>A (p.Val1137=) c.3594G>A (p.Val1198=) c.*247G>A (n.*247G>A) c.*255G>A (n.*255G>A) c.*1969G>A (n.*1969G>A) c.3588G>A (p.Val1196=) c.*3418G>A (n.*3418G>A) c.3168G>A (p.Val1056=) c.342G>A (p.Val114=) c.1381G>A (n.1381G>A) c.176G>A c.1167+77G>A c.2376G>A (p.Val792=) c.3504G>A (p.Val1168=) c.419G>A c.3684G>A (p.Val1228=) c.3351G>A (p.Val1117=) | |
7 | g.117627647G>C | CA457231410 | CFTR | c.3517+77G>C (n.3517+77G>C) c.*3308G>C (n.*3308G>C) c.3411G>C (p.Val1137=) c.3594G>C (p.Val1198=) c.*247G>C (n.*247G>C) c.*255G>C (n.*255G>C) c.*1969G>C (n.*1969G>C) c.3588G>C (p.Val1196=) c.*3418G>C (n.*3418G>C) c.3168G>C (p.Val1056=) c.342G>C (p.Val114=) c.1381G>C (n.1381G>C) c.176G>C c.1167+77G>C c.2376G>C (p.Val792=) c.3504G>C (p.Val1168=) c.419G>C c.3684G>C (p.Val1228=) c.3351G>C (p.Val1117=) | |
7 | g.117627647G= | CA1737398669 | CFTR | c.3517+77G= (n.3517+77G=) c.*3308G= (n.*3308G=) c.3411G= (p.Val1137=) c.3594G= (p.Val1198=) c.*247G= (n.*247G=) c.*255G= (n.*255G=) c.*1969G= (n.*1969G=) c.3588G= (p.Val1196=) c.*3418G= (n.*3418G=) c.3168G= (p.Val1056=) c.342G= (p.Val114=) c.1381G= (n.1381G=) c.176G= c.1167+77G= c.2376G= (p.Val792=) c.3504G= (p.Val1168=) c.419G= c.3684G= (p.Val1228=) c.3351G= (p.Val1117=) | |
7 | g.117627647G>T | CA164976625 | CFTR | c.3517+77G>T (n.3517+77G>T) c.*3308G>T (n.*3308G>T) c.3411G>T (p.Val1137=) c.3594G>T (p.Val1198=) c.*247G>T (n.*247G>T) c.*255G>T (n.*255G>T) c.*1969G>T (n.*1969G>T) c.3588G>T (p.Val1196=) c.*3418G>T (n.*3418G>T) c.3168G>T (p.Val1056=) c.342G>T (p.Val114=) c.1381G>T (n.1381G>T) c.176G>T c.1167+77G>T c.2376G>T (p.Val792=) c.3504G>T (p.Val1168=) c.419G>T c.3684G>T (p.Val1228=) c.3351G>T (p.Val1117=) | dbSNP |
7 | g.117627648A>C | CA368997096 | CFTR | c.3517+78A>C (n.3517+78A>C) c.*3309A>C (n.*3309A>C) c.3412A>C (p.Lys1138Gln) c.3595A>C (p.Lys1199Gln) c.*248A>C (n.*248A>C) c.*256A>C (n.*256A>C) c.*1970A>C (n.*1970A>C) c.3589A>C (p.Lys1197Gln) c.*3419A>C (n.*3419A>C) c.3169A>C (p.Lys1057Gln) c.343A>C (p.Lys115Gln) c.1382A>C (n.1382A>C) c.177A>C c.1167+78A>C c.2377A>C (p.Lys793Gln) c.3505A>C (p.Lys1169Gln) c.420A>C c.3685A>C (p.Lys1229Gln) c.3352A>C (p.Lys1118Gln) | ClinVar |
7 | g.117627648A>G | CA368997098 | CFTR | c.3517+78A>G (n.3517+78A>G) c.*3309A>G (n.*3309A>G) c.3412A>G (p.Lys1138Glu) c.3595A>G (p.Lys1199Glu) c.*248A>G (n.*248A>G) c.*256A>G (n.*256A>G) c.*1970A>G (n.*1970A>G) c.3589A>G (p.Lys1197Glu) c.*3419A>G (n.*3419A>G) c.3169A>G (p.Lys1057Glu) c.343A>G (p.Lys115Glu) c.1382A>G (n.1382A>G) c.177A>G c.1167+78A>G c.2377A>G (p.Lys793Glu) c.3505A>G (p.Lys1169Glu) c.420A>G c.3685A>G (p.Lys1229Glu) c.3352A>G (p.Lys1118Glu) | |
7 | g.117627648A>T | CA368997099 | CFTR | c.3517+78A>T (n.3517+78A>T) c.*3309A>T (n.*3309A>T) c.3412A>T (p.Lys1138Ter) c.3595A>T (p.Lys1199Ter) c.*248A>T (n.*248A>T) c.*256A>T (n.*256A>T) c.*1970A>T (n.*1970A>T) c.3589A>T (p.Lys1197Ter) c.*3419A>T (n.*3419A>T) c.3169A>T (p.Lys1057Ter) c.343A>T (p.Lys115Ter) c.1382A>T (n.1382A>T) c.177A>T c.1167+78A>T c.2377A>T (p.Lys793Ter) c.3505A>T (p.Lys1169Ter) c.420A>T c.3685A>T (p.Lys1229Ter) c.3352A>T (p.Lys1118Ter) | |
7 | g.117627649A= | CA1737398670 | CFTR | c.3517+79A= (n.3517+79A=) c.*3310A= (n.*3310A=) c.3413A= (p.Lys1138=) c.3596A= (p.Lys1199=) c.*249A= (n.*249A=) c.*257A= (n.*257A=) c.*1971A= (n.*1971A=) c.3590A= (p.Lys1197=) c.*3420A= (n.*3420A=) c.3170A= (p.Lys1057=) c.344A= (p.Lys115=) c.1383A= (n.1383A=) c.178A= c.1167+79A= c.2378A= (p.Lys793=) c.3506A= (p.Lys1169=) c.421A= c.3686A= (p.Lys1229=) c.3353A= (p.Lys1118=) | |
7 | g.117627649A>C | CA368997102 | CFTR | c.3517+79A>C (n.3517+79A>C) c.*3310A>C (n.*3310A>C) c.3413A>C (p.Lys1138Thr) c.3596A>C (p.Lys1199Thr) c.*249A>C (n.*249A>C) c.*257A>C (n.*257A>C) c.*1971A>C (n.*1971A>C) c.3590A>C (p.Lys1197Thr) c.*3420A>C (n.*3420A>C) c.3170A>C (p.Lys1057Thr) c.344A>C (p.Lys115Thr) c.1383A>C (n.1383A>C) c.178A>C c.1167+79A>C c.2378A>C (p.Lys793Thr) c.3506A>C (p.Lys1169Thr) c.421A>C c.3686A>C (p.Lys1229Thr) c.3353A>C (p.Lys1118Thr) | |
7 | g.117627649A>G | CA4451506 | CFTR | c.3517+79A>G (n.3517+79A>G) c.*3310A>G (n.*3310A>G) c.3413A>G (p.Lys1138Arg) c.3596A>G (p.Lys1199Arg) c.*249A>G (n.*249A>G) c.*257A>G (n.*257A>G) c.*1971A>G (n.*1971A>G) c.3590A>G (p.Lys1197Arg) c.*3420A>G (n.*3420A>G) c.3170A>G (p.Lys1057Arg) c.344A>G (p.Lys115Arg) c.1383A>G (n.1383A>G) c.178A>G c.1167+79A>G c.2378A>G (p.Lys793Arg) c.3506A>G (p.Lys1169Arg) c.421A>G c.3686A>G (p.Lys1229Arg) c.3353A>G (p.Lys1118Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627649A>T | CA368997100 | CFTR | c.3517+79A>T (n.3517+79A>T) c.*3310A>T (n.*3310A>T) c.3413A>T (p.Lys1138Met) c.3596A>T (p.Lys1199Met) c.*249A>T (n.*249A>T) c.*257A>T (n.*257A>T) c.*1971A>T (n.*1971A>T) c.3590A>T (p.Lys1197Met) c.*3420A>T (n.*3420A>T) c.3170A>T (p.Lys1057Met) c.344A>T (p.Lys115Met) c.1383A>T (n.1383A>T) c.178A>T c.1167+79A>T c.2378A>T (p.Lys793Met) c.3506A>T (p.Lys1169Met) c.421A>T c.3686A>T (p.Lys1229Met) c.3353A>T (p.Lys1118Met) | |
7 | g.117627650G>A | CA457231415 | CFTR | c.3517+80G>A (n.3517+80G>A) c.*3311G>A (n.*3311G>A) c.3414G>A (p.Lys1138=) c.3597G>A (p.Lys1199=) c.*250G>A (n.*250G>A) c.*258G>A (n.*258G>A) c.*1972G>A (n.*1972G>A) c.3591G>A (p.Lys1197=) c.*3421G>A (n.*3421G>A) c.3171G>A (p.Lys1057=) c.345G>A (p.Lys115=) c.1384G>A (n.1384G>A) c.179G>A c.1167+80G>A c.2379G>A (p.Lys793=) c.3507G>A (p.Lys1169=) c.422G>A c.3687G>A (p.Lys1229=) c.3354G>A (p.Lys1118=) | |
7 | g.117627650G>C | CA368997104 | CFTR | c.3517+80G>C (n.3517+80G>C) c.*3311G>C (n.*3311G>C) c.3414G>C (p.Lys1138Asn) c.3597G>C (p.Lys1199Asn) c.*250G>C (n.*250G>C) c.*258G>C (n.*258G>C) c.*1972G>C (n.*1972G>C) c.3591G>C (p.Lys1197Asn) c.*3421G>C (n.*3421G>C) c.3171G>C (p.Lys1057Asn) c.345G>C (p.Lys115Asn) c.1384G>C (n.1384G>C) c.179G>C c.1167+80G>C c.2379G>C (p.Lys793Asn) c.3507G>C (p.Lys1169Asn) c.422G>C c.3687G>C (p.Lys1229Asn) c.3354G>C (p.Lys1118Asn) | |
7 | g.117627650G>T | CA368997106 | CFTR | c.3517+80G>T (n.3517+80G>T) c.*3311G>T (n.*3311G>T) c.3414G>T (p.Lys1138Asn) c.3597G>T (p.Lys1199Asn) c.*250G>T (n.*250G>T) c.*258G>T (n.*258G>T) c.*1972G>T (n.*1972G>T) c.3591G>T (p.Lys1197Asn) c.*3421G>T (n.*3421G>T) c.3171G>T (p.Lys1057Asn) c.345G>T (p.Lys115Asn) c.1384G>T (n.1384G>T) c.179G>T c.1167+80G>T c.2379G>T (p.Lys793Asn) c.3507G>T (p.Lys1169Asn) c.422G>T c.3687G>T (p.Lys1229Asn) c.3354G>T (p.Lys1118Asn) | gnomAD v4 |
7 | g.117627650_117627652delinsGAA | CA1737398671 | CFTR | c.3517+80_3517+82delinsGAA (n.3517+80_3517+82delinsGAA) c.*3311_*3313delinsGAA (n.*3311_*3313delinsGAA) c.3414_3416delinsGAA (p.Lys1138=) c.3597_3599delinsGAA (p.Lys1199=) c.*250_*252delinsGAA (n.*250_*252delinsGAA) c.*258_*260delinsGAA (n.*258_*260delinsGAA) c.*1972_*1974delinsGAA (n.*1972_*1974delinsGAA) c.3591_3593delinsGAA (p.Lys1197=) c.*3421_*3423delinsGAA (n.*3421_*3423delinsGAA) c.3171_3173delinsGAA (p.Lys1057=) c.345_347delinsGAA (p.Lys115=) c.1384_1386delinsGAA (n.1384_1386delinsGAA) c.179_181delinsGAA c.1167+80_1167+82delinsGAA c.2379_2381delinsGAA (p.Lys793=) c.3507_3509delinsGAA (p.Lys1169=) c.422_424delinsGAA c.3687_3689delinsGAA (p.Lys1229=) c.3354_3356delinsGAA (p.Lys1118=) | |
7 | g.117627651A= | CA1737398672 | CFTR | c.3517+81A= (n.3517+81A=) c.*3312A= (n.*3312A=) c.3415A= (p.Lys1139=) c.3598A= (p.Lys1200=) c.*251A= (n.*251A=) c.*259A= (n.*259A=) c.*1973A= (n.*1973A=) c.3592A= (p.Lys1198=) c.*3422A= (n.*3422A=) c.3172A= (p.Lys1058=) c.346A= (p.Lys116=) c.1385A= (n.1385A=) c.180A= c.1167+81A= c.2380A= (p.Lys794=) c.3508A= (p.Lys1170=) c.423A= c.3688A= (p.Lys1230=) c.3355A= (p.Lys1119=) | |
7 | g.117627651A>C | CA4451507 | CFTR | c.3517+81A>C (n.3517+81A>C) c.*3312A>C (n.*3312A>C) c.3415A>C (p.Lys1139Gln) c.3598A>C (p.Lys1200Gln) c.*251A>C (n.*251A>C) c.*259A>C (n.*259A>C) c.*1973A>C (n.*1973A>C) c.3592A>C (p.Lys1198Gln) c.*3422A>C (n.*3422A>C) c.3172A>C (p.Lys1058Gln) c.346A>C (p.Lys116Gln) c.1385A>C (n.1385A>C) c.180A>C c.1167+81A>C c.2380A>C (p.Lys794Gln) c.3508A>C (p.Lys1170Gln) c.423A>C c.3688A>C (p.Lys1230Gln) c.3355A>C (p.Lys1119Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627651A>G | CA368997109 | CFTR | c.3517+81A>G (n.3517+81A>G) c.*3312A>G (n.*3312A>G) c.3415A>G (p.Lys1139Glu) c.3598A>G (p.Lys1200Glu) c.*251A>G (n.*251A>G) c.*259A>G (n.*259A>G) c.*1973A>G (n.*1973A>G) c.3592A>G (p.Lys1198Glu) c.*3422A>G (n.*3422A>G) c.3172A>G (p.Lys1058Glu) c.346A>G (p.Lys116Glu) c.1385A>G (n.1385A>G) c.180A>G c.1167+81A>G c.2380A>G (p.Lys794Glu) c.3508A>G (p.Lys1170Glu) c.423A>G c.3688A>G (p.Lys1230Glu) c.3355A>G (p.Lys1119Glu) | |
7 | g.117627651A>T | CA368997111 | CFTR | c.3517+81A>T (n.3517+81A>T) c.*3312A>T (n.*3312A>T) c.3415A>T (p.Lys1139Ter) c.3598A>T (p.Lys1200Ter) c.*251A>T (n.*251A>T) c.*259A>T (n.*259A>T) c.*1973A>T (n.*1973A>T) c.3592A>T (p.Lys1198Ter) c.*3422A>T (n.*3422A>T) c.3172A>T (p.Lys1058Ter) c.346A>T (p.Lys116Ter) c.1385A>T (n.1385A>T) c.180A>T c.1167+81A>T c.2380A>T (p.Lys794Ter) c.3508A>T (p.Lys1170Ter) c.423A>T c.3688A>T (p.Lys1230Ter) c.3355A>T (p.Lys1119Ter) | |
7 | g.117627651delinsTCT | CA2695208377 | CFTR | c.3517+81delinsTCT (n.3517+81delinsTCT) c.*3312delinsTCT (n.*3312delinsTCT) c.3415delinsTCT (p.Lys1139SerfsTer12) c.3598delinsTCT (p.Lys1200SerfsTer12) c.*251delinsTCT (n.*251delinsTCT) c.*259delinsTCT (n.*259delinsTCT) c.*1973delinsTCT (n.*1973delinsTCT) c.3592delinsTCT (p.Lys1198SerfsTer12) c.*3422delinsTCT (n.*3422delinsTCT) c.3172delinsTCT (p.Lys1058SerfsTer12) c.346delinsTCT (p.Lys116SerfsTer12) c.1385delinsTCT (n.1385delinsTCT) c.180delinsTCT c.1167+81delinsTCT c.2380delinsTCT (p.Lys794SerfsTer12) c.3508delinsTCT (p.Lys1170SerfsTer12) c.423delinsTCT c.3688delinsTCT (p.Lys1230SerfsTer12) c.3355delinsTCT (p.Lys1119SerfsTer12) | |
7 | g.117627651_117627652delinsG | CA915945444 | CFTR | c.3517+81_3517+82delinsG (n.3517+81_3517+82delinsG) c.*3312_*3313delinsG (n.*3312_*3313delinsG) c.3415_3416delinsG (p.Lys1139GlufsTer11) c.3598_3599delinsG (p.Lys1200GlufsTer11) c.*251_*252delinsG (n.*251_*252delinsG) c.*259_*260delinsG (n.*259_*260delinsG) c.*1973_*1974delinsG (n.*1973_*1974delinsG) c.3592_3593delinsG (p.Lys1198GlufsTer11) c.*3422_*3423delinsG (n.*3422_*3423delinsG) c.3172_3173delinsG (p.Lys1058GlufsTer11) c.346_347delinsG (p.Lys116GlufsTer11) c.1385_1386delinsG (n.1385_1386delinsG) c.180_181delinsG c.1167+81_1167+82delinsG c.2380_2381delinsG (p.Lys794GlufsTer11) c.3508_3509delinsG (p.Lys1170GlufsTer11) c.423_424delinsG c.3688_3689delinsG (p.Lys1230GlufsTer11) c.3355_3356delinsG (p.Lys1119GlufsTer11) | ClinVar dbSNP |
7 | g.117627651_117627653delinsAAA | CA1737398673 | CFTR | c.3517+81_3517+83delinsAAA (n.3517+81_3517+83delinsAAA) c.*3312_*3314delinsAAA (n.*3312_*3314delinsAAA) c.3415_3417delinsAAA (p.Lys1139=) c.3598_3600delinsAAA (p.Lys1200=) c.*251_*253delinsAAA (n.*251_*253delinsAAA) c.*259_*261delinsAAA (n.*259_*261delinsAAA) c.*1973_*1975delinsAAA (n.*1973_*1975delinsAAA) c.3592_3594delinsAAA (p.Lys1198=) c.*3422_*3424delinsAAA (n.*3422_*3424delinsAAA) c.3172_3174delinsAAA (p.Lys1058=) c.346_348delinsAAA (p.Lys116=) c.1385_1387delinsAAA (n.1385_1387delinsAAA) c.180_182delinsAAA c.1167+81_1167+83delinsAAA c.2380_2382delinsAAA (p.Lys794=) c.3508_3510delinsAAA (p.Lys1170=) c.423_425delinsAAA c.3688_3690delinsAAA (p.Lys1230=) c.3355_3357delinsAAA (p.Lys1119=) | |
7 | g.117627653del | CA2573052807 | CFTR | c.3517+83del (n.3517+83del) c.*3314del (n.*3314del) c.3417del (p.Asp1140MetfsTer10) c.3600del (p.Asp1201MetfsTer10) c.*253del (n.*253del) c.*261del (n.*261del) c.*1975del (n.*1975del) c.3594del (p.Asp1199MetfsTer10) c.*3424del (n.*3424del) c.3174del (p.Asp1059MetfsTer10) c.348del (p.Asp117MetfsTer10) c.1387del (n.1387del) c.182del c.1167+83del c.2382del (p.Asp795MetfsTer10) c.3510del (p.Asp1171MetfsTer10) c.425del c.3690del (p.Asp1231MetfsTer10) c.3357del (p.Asp1120MetfsTer10) | ClinVar dbSNP |
7 | g.117627652A>C | CA368997113 | CFTR | c.3517+82A>C (n.3517+82A>C) c.*3313A>C (n.*3313A>C) c.3416A>C (p.Lys1139Thr) c.3599A>C (p.Lys1200Thr) c.*252A>C (n.*252A>C) c.*260A>C (n.*260A>C) c.*1974A>C (n.*1974A>C) c.3593A>C (p.Lys1198Thr) c.*3423A>C (n.*3423A>C) c.3173A>C (p.Lys1058Thr) c.347A>C (p.Lys116Thr) c.1386A>C (n.1386A>C) c.181A>C c.1167+82A>C c.2381A>C (p.Lys794Thr) c.3509A>C (p.Lys1170Thr) c.424A>C c.3689A>C (p.Lys1230Thr) c.3356A>C (p.Lys1119Thr) | |
7 | g.117627652A>G | CA368997116 | CFTR | c.3517+82A>G (n.3517+82A>G) c.*3313A>G (n.*3313A>G) c.3416A>G (p.Lys1139Arg) c.3599A>G (p.Lys1200Arg) c.*252A>G (n.*252A>G) c.*260A>G (n.*260A>G) c.*1974A>G (n.*1974A>G) c.3593A>G (p.Lys1198Arg) c.*3423A>G (n.*3423A>G) c.3173A>G (p.Lys1058Arg) c.347A>G (p.Lys116Arg) c.1386A>G (n.1386A>G) c.181A>G c.1167+82A>G c.2381A>G (p.Lys794Arg) c.3509A>G (p.Lys1170Arg) c.424A>G c.3689A>G (p.Lys1230Arg) c.3356A>G (p.Lys1119Arg) | |
7 | g.117627652A>T | CA368997115 | CFTR | c.3517+82A>T (n.3517+82A>T) c.*3313A>T (n.*3313A>T) c.3416A>T (p.Lys1139Ile) c.3599A>T (p.Lys1200Ile) c.*252A>T (n.*252A>T) c.*260A>T (n.*260A>T) c.*1974A>T (n.*1974A>T) c.3593A>T (p.Lys1198Ile) c.*3423A>T (n.*3423A>T) c.3173A>T (p.Lys1058Ile) c.347A>T (p.Lys116Ile) c.1386A>T (n.1386A>T) c.181A>T c.1167+82A>T c.2381A>T (p.Lys794Ile) c.3509A>T (p.Lys1170Ile) c.424A>T c.3689A>T (p.Lys1230Ile) c.3356A>T (p.Lys1119Ile) | |
7 | g.117627652_117627653delinsG | CA915945445 | CFTR | c.3517+82_3517+83delinsG (n.3517+82_3517+83delinsG) c.*3313_*3314delinsG (n.*3313_*3314delinsG) c.3416_3417delinsG (p.Lys1139ArgfsTer11) c.3599_3600delinsG (p.Lys1200ArgfsTer11) c.*252_*253delinsG (n.*252_*253delinsG) c.*260_*261delinsG (n.*260_*261delinsG) c.*1974_*1975delinsG (n.*1974_*1975delinsG) c.3593_3594delinsG (p.Lys1198ArgfsTer11) c.*3423_*3424delinsG (n.*3423_*3424delinsG) c.3173_3174delinsG (p.Lys1058ArgfsTer11) c.347_348delinsG (p.Lys116ArgfsTer11) c.1386_1387delinsG (n.1386_1387delinsG) c.181_182delinsG c.1167+82_1167+83delinsG c.2381_2382delinsG (p.Lys794ArgfsTer11) c.3509_3510delinsG (p.Lys1170ArgfsTer11) c.424_425delinsG c.3689_3690delinsG (p.Lys1230ArgfsTer11) c.3356_3357delinsG (p.Lys1119ArgfsTer11) | ClinVar dbSNP |
7 | g.117627653A= | CA1737398674 | CFTR | c.3517+83A= (n.3517+83A=) c.*3314A= (n.*3314A=) c.3417A= (p.Lys1139=) c.3600A= (p.Lys1200=) c.*253A= (n.*253A=) c.*261A= (n.*261A=) c.*1975A= (n.*1975A=) c.3594A= (p.Lys1198=) c.*3424A= (n.*3424A=) c.3174A= (p.Lys1058=) c.348A= (p.Lys116=) c.1387A= (n.1387A=) c.182A= c.1167+83A= c.2382A= (p.Lys794=) c.3510A= (p.Lys1170=) c.425A= c.3690A= (p.Lys1230=) c.3357A= (p.Lys1119=) | |
7 | g.117627653A>C | CA368997118 | CFTR | c.3517+83A>C (n.3517+83A>C) c.*3314A>C (n.*3314A>C) c.3417A>C (p.Lys1139Asn) c.3600A>C (p.Lys1200Asn) c.*253A>C (n.*253A>C) c.*261A>C (n.*261A>C) c.*1975A>C (n.*1975A>C) c.3594A>C (p.Lys1198Asn) c.*3424A>C (n.*3424A>C) c.3174A>C (p.Lys1058Asn) c.348A>C (p.Lys116Asn) c.1387A>C (n.1387A>C) c.182A>C c.1167+83A>C c.2382A>C (p.Lys794Asn) c.3510A>C (p.Lys1170Asn) c.425A>C c.3690A>C (p.Lys1230Asn) c.3357A>C (p.Lys1119Asn) | |
7 | g.117627653A>G | CA327237 | CFTR | c.3517+83A>G (n.3517+83A>G) c.*3314A>G (n.*3314A>G) c.3417A>G (p.Lys1139=) c.3600A>G (p.Lys1200=) c.*253A>G (n.*253A>G) c.*261A>G (n.*261A>G) c.*1975A>G (n.*1975A>G) c.3594A>G (p.Lys1198=) c.*3424A>G (n.*3424A>G) c.3174A>G (p.Lys1058=) c.348A>G (p.Lys116=) c.1387A>G (n.1387A>G) c.182A>G c.1167+83A>G c.2382A>G (p.Lys794=) c.3510A>G (p.Lys1170=) c.425A>G c.3690A>G (p.Lys1230=) c.3357A>G (p.Lys1119=) | ClinVar dbSNP gnomAD v4 |
7 | g.117627653A>T | CA368997120 | CFTR | c.3517+83A>T (n.3517+83A>T) c.*3314A>T (n.*3314A>T) c.3417A>T (p.Lys1139Asn) c.3600A>T (p.Lys1200Asn) c.*253A>T (n.*253A>T) c.*261A>T (n.*261A>T) c.*1975A>T (n.*1975A>T) c.3594A>T (p.Lys1198Asn) c.*3424A>T (n.*3424A>T) c.3174A>T (p.Lys1058Asn) c.348A>T (p.Lys116Asn) c.1387A>T (n.1387A>T) c.182A>T c.1167+83A>T c.2382A>T (p.Lys794Asn) c.3510A>T (p.Lys1170Asn) c.425A>T c.3690A>T (p.Lys1230Asn) c.3357A>T (p.Lys1119Asn) | ClinVar |
7 | g.117627654G>A | CA368997122 | CFTR | c.3517+84G>A (n.3517+84G>A) c.*3315G>A (n.*3315G>A) c.3418G>A (p.Asp1140Asn) c.3601G>A (p.Asp1201Asn) c.*254G>A (n.*254G>A) c.*262G>A (n.*262G>A) c.*1976G>A (n.*1976G>A) c.3595G>A (p.Asp1199Asn) c.*3425G>A (n.*3425G>A) c.3175G>A (p.Asp1059Asn) c.349G>A (p.Asp117Asn) c.1388G>A (n.1388G>A) c.183G>A c.1167+84G>A c.2383G>A (p.Asp795Asn) c.3511G>A (p.Asp1171Asn) c.426G>A c.3691G>A (p.Asp1231Asn) c.3358G>A (p.Asp1120Asn) | COSMIC |
7 | g.117627654G>C | CA368997124 | CFTR | c.3517+84G>C (n.3517+84G>C) c.*3315G>C (n.*3315G>C) c.3418G>C (p.Asp1140His) c.3601G>C (p.Asp1201His) c.*254G>C (n.*254G>C) c.*262G>C (n.*262G>C) c.*1976G>C (n.*1976G>C) c.3595G>C (p.Asp1199His) c.*3425G>C (n.*3425G>C) c.3175G>C (p.Asp1059His) c.349G>C (p.Asp117His) c.1388G>C (n.1388G>C) c.183G>C c.1167+84G>C c.2383G>C (p.Asp795His) c.3511G>C (p.Asp1171His) c.426G>C c.3691G>C (p.Asp1231His) c.3358G>C (p.Asp1120His) | gnomAD v4 |
7 | g.117627654G= | CA1737398675 | CFTR | c.3517+84G= (n.3517+84G=) c.*3315G= (n.*3315G=) c.3418G= (p.Asp1140=) c.3601G= (p.Asp1201=) c.*254G= (n.*254G=) c.*262G= (n.*262G=) c.*1976G= (n.*1976G=) c.3595G= (p.Asp1199=) c.*3425G= (n.*3425G=) c.3175G= (p.Asp1059=) c.349G= (p.Asp117=) c.1388G= (n.1388G=) c.183G= c.1167+84G= c.2383G= (p.Asp795=) c.3511G= (p.Asp1171=) c.426G= c.3691G= (p.Asp1231=) c.3358G= (p.Asp1120=) | |
7 | g.117627654G>T | CA368997126 | CFTR | c.3517+84G>T (n.3517+84G>T) c.*3315G>T (n.*3315G>T) c.3418G>T (p.Asp1140Tyr) c.3601G>T (p.Asp1201Tyr) c.*254G>T (n.*254G>T) c.*262G>T (n.*262G>T) c.*1976G>T (n.*1976G>T) c.3595G>T (p.Asp1199Tyr) c.*3425G>T (n.*3425G>T) c.3175G>T (p.Asp1059Tyr) c.349G>T (p.Asp117Tyr) c.1388G>T (n.1388G>T) c.183G>T c.1167+84G>T c.2383G>T (p.Asp795Tyr) c.3511G>T (p.Asp1171Tyr) c.426G>T c.3691G>T (p.Asp1231Tyr) c.3358G>T (p.Asp1120Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117627655del | CA2580076344 | CFTR | c.3517+85del (n.3517+85del) c.*3316del (n.*3316del) c.3419del (p.Asp1140ValfsTer10) c.3602del (p.Asp1201ValfsTer10) c.*255del (n.*255del) c.*263del (n.*263del) c.*1977del (n.*1977del) c.3596del (p.Asp1199ValfsTer10) c.*3426del (n.*3426del) c.3176del (p.Asp1059ValfsTer10) c.350del (p.Asp117ValfsTer10) c.1389del (n.1389del) c.184del c.1167+85del c.2384del (p.Asp795ValfsTer10) c.3512del (p.Asp1171ValfsTer10) c.427del c.3692del (p.Asp1231ValfsTer10) c.3359del (p.Asp1120ValfsTer10) | ClinVar |
7 | g.117627655A>C | CA368997129 | CFTR | c.3517+85A>C (n.3517+85A>C) c.*3316A>C (n.*3316A>C) c.3419A>C (p.Asp1140Ala) c.3602A>C (p.Asp1201Ala) c.*255A>C (n.*255A>C) c.*263A>C (n.*263A>C) c.*1977A>C (n.*1977A>C) c.3596A>C (p.Asp1199Ala) c.*3426A>C (n.*3426A>C) c.3176A>C (p.Asp1059Ala) c.350A>C (p.Asp117Ala) c.1389A>C (n.1389A>C) c.184A>C c.1167+85A>C c.2384A>C (p.Asp795Ala) c.3512A>C (p.Asp1171Ala) c.427A>C c.3692A>C (p.Asp1231Ala) c.3359A>C (p.Asp1120Ala) | |
7 | g.117627655A>G | CA368997130 | CFTR | c.3517+85A>G (n.3517+85A>G) c.*3316A>G (n.*3316A>G) c.3419A>G (p.Asp1140Gly) c.3602A>G (p.Asp1201Gly) c.*255A>G (n.*255A>G) c.*263A>G (n.*263A>G) c.*1977A>G (n.*1977A>G) c.3596A>G (p.Asp1199Gly) c.*3426A>G (n.*3426A>G) c.3176A>G (p.Asp1059Gly) c.350A>G (p.Asp117Gly) c.1389A>G (n.1389A>G) c.184A>G c.1167+85A>G c.2384A>G (p.Asp795Gly) c.3512A>G (p.Asp1171Gly) c.427A>G c.3692A>G (p.Asp1231Gly) c.3359A>G (p.Asp1120Gly) | |
7 | g.117627655A>T | CA368997132 | CFTR | c.3517+85A>T (n.3517+85A>T) c.*3316A>T (n.*3316A>T) c.3419A>T (p.Asp1140Val) c.3602A>T (p.Asp1201Val) c.*255A>T (n.*255A>T) c.*263A>T (n.*263A>T) c.*1977A>T (n.*1977A>T) c.3596A>T (p.Asp1199Val) c.*3426A>T (n.*3426A>T) c.3176A>T (p.Asp1059Val) c.350A>T (p.Asp117Val) c.1389A>T (n.1389A>T) c.184A>T c.1167+85A>T c.2384A>T (p.Asp795Val) c.3512A>T (p.Asp1171Val) c.427A>T c.3692A>T (p.Asp1231Val) c.3359A>T (p.Asp1120Val) | |
7 | g.117627656T>A | CA368997134 | CFTR | c.3517+86T>A (n.3517+86T>A) c.*3317T>A (n.*3317T>A) c.3420T>A (p.Asp1140Glu) c.3603T>A (p.Asp1201Glu) c.*256T>A (n.*256T>A) c.*264T>A (n.*264T>A) c.*1978T>A (n.*1978T>A) c.3597T>A (p.Asp1199Glu) c.*3427T>A (n.*3427T>A) c.3177T>A (p.Asp1059Glu) c.351T>A (p.Asp117Glu) c.1390T>A (n.1390T>A) c.185T>A c.1167+86T>A c.2385T>A (p.Asp795Glu) c.3513T>A (p.Asp1171Glu) c.428T>A c.3693T>A (p.Asp1231Glu) c.3360T>A (p.Asp1120Glu) | COSMIC |
7 | g.117627656T>C | CA457231418 | CFTR | c.3517+86T>C (n.3517+86T>C) c.*3317T>C (n.*3317T>C) c.3420T>C (p.Asp1140=) c.3603T>C (p.Asp1201=) c.*256T>C (n.*256T>C) c.*264T>C (n.*264T>C) c.*1978T>C (n.*1978T>C) c.3597T>C (p.Asp1199=) c.*3427T>C (n.*3427T>C) c.3177T>C (p.Asp1059=) c.351T>C (p.Asp117=) c.1390T>C (n.1390T>C) c.185T>C c.1167+86T>C c.2385T>C (p.Asp795=) c.3513T>C (p.Asp1171=) c.428T>C c.3693T>C (p.Asp1231=) c.3360T>C (p.Asp1120=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627656T>G | CA368997136 | CFTR | c.3517+86T>G (n.3517+86T>G) c.*3317T>G (n.*3317T>G) c.3420T>G (p.Asp1140Glu) c.3603T>G (p.Asp1201Glu) c.*256T>G (n.*256T>G) c.*264T>G (n.*264T>G) c.*1978T>G (n.*1978T>G) c.3597T>G (p.Asp1199Glu) c.*3427T>G (n.*3427T>G) c.3177T>G (p.Asp1059Glu) c.351T>G (p.Asp117Glu) c.1390T>G (n.1390T>G) c.185T>G c.1167+86T>G c.2385T>G (p.Asp795Glu) c.3513T>G (p.Asp1171Glu) c.428T>G c.3693T>G (p.Asp1231Glu) c.3360T>G (p.Asp1120Glu) | |
7 | g.117627656T= | CA1737398676 | CFTR | c.3517+86T= (n.3517+86T=) c.*3317T= (n.*3317T=) c.3420T= (p.Asp1140=) c.3603T= (p.Asp1201=) c.*256T= (n.*256T=) c.*264T= (n.*264T=) c.*1978T= (n.*1978T=) c.3597T= (p.Asp1199=) c.*3427T= (n.*3427T=) c.3177T= (p.Asp1059=) c.351T= (p.Asp117=) c.1390T= (n.1390T=) c.185T= c.1167+86T= c.2385T= (p.Asp795=) c.3513T= (p.Asp1171=) c.428T= c.3693T= (p.Asp1231=) c.3360T= (p.Asp1120=) | |
7 | g.117627657G>A | CA368997142 | CFTR | c.3517+87G>A (n.3517+87G>A) c.*3318G>A (n.*3318G>A) c.3421G>A (p.Asp1141Asn) c.3604G>A (p.Asp1202Asn) c.*257G>A (n.*257G>A) c.*265G>A (n.*265G>A) c.*1979G>A (n.*1979G>A) c.3598G>A (p.Asp1200Asn) c.*3428G>A (n.*3428G>A) c.3178G>A (p.Asp1060Asn) c.352G>A (p.Asp118Asn) c.1391G>A (n.1391G>A) c.186G>A c.1167+87G>A c.2386G>A (p.Asp796Asn) c.3514G>A (p.Asp1172Asn) c.429G>A c.3694G>A (p.Asp1232Asn) c.3361G>A (p.Asp1121Asn) | |
7 | g.117627657G>C | CA368997140 | CFTR | c.3517+87G>C (n.3517+87G>C) c.*3318G>C (n.*3318G>C) c.3421G>C (p.Asp1141His) c.3604G>C (p.Asp1202His) c.*257G>C (n.*257G>C) c.*265G>C (n.*265G>C) c.*1979G>C (n.*1979G>C) c.3598G>C (p.Asp1200His) c.*3428G>C (n.*3428G>C) c.3178G>C (p.Asp1060His) c.352G>C (p.Asp118His) c.1391G>C (n.1391G>C) c.186G>C c.1167+87G>C c.2386G>C (p.Asp796His) c.3514G>C (p.Asp1172His) c.429G>C c.3694G>C (p.Asp1232His) c.3361G>C (p.Asp1121His) | |
7 | g.117627657G>T | CA368997138 | CFTR | c.3517+87G>T (n.3517+87G>T) c.*3318G>T (n.*3318G>T) c.3421G>T (p.Asp1141Tyr) c.3604G>T (p.Asp1202Tyr) c.*257G>T (n.*257G>T) c.*265G>T (n.*265G>T) c.*1979G>T (n.*1979G>T) c.3598G>T (p.Asp1200Tyr) c.*3428G>T (n.*3428G>T) c.3178G>T (p.Asp1060Tyr) c.352G>T (p.Asp118Tyr) c.1391G>T (n.1391G>T) c.186G>T c.1167+87G>T c.2386G>T (p.Asp796Tyr) c.3514G>T (p.Asp1172Tyr) c.429G>T c.3694G>T (p.Asp1232Tyr) c.3361G>T (p.Asp1121Tyr) | dbSNP |
7 | g.117627657_117627658delinsGA | CA1737398677 | CFTR | c.3517+87_3517+88delinsGA (n.3517+87_3517+88delinsGA) c.*3318_*3319delinsGA (n.*3318_*3319delinsGA) c.3421_3422delinsGA (p.Asp1141=) c.3604_3605delinsGA (p.Asp1202=) c.*257_*258delinsGA (n.*257_*258delinsGA) c.*265_*266delinsGA (n.*265_*266delinsGA) c.*1979_*1980delinsGA (n.*1979_*1980delinsGA) c.3598_3599delinsGA (p.Asp1200=) c.*3428_*3429delinsGA (n.*3428_*3429delinsGA) c.3178_3179delinsGA (p.Asp1060=) c.352_353delinsGA (p.Asp118=) c.1391_1392delinsGA (n.1391_1392delinsGA) c.186_187delinsGA c.1167+87_1167+88delinsGA c.2386_2387delinsGA (p.Asp796=) c.3514_3515delinsGA (p.Asp1172=) c.429_430delinsGA c.3694_3695delinsGA (p.Asp1232=) c.3361_3362delinsGA (p.Asp1121=) | |
7 | g.117627658del | CA327239 | CFTR | c.3517+88del (n.3517+88del) c.*3319del (n.*3319del) c.3422del (p.Asp1141AlafsTer9) c.3605del (p.Asp1202AlafsTer9) c.*258del (n.*258del) c.*266del (n.*266del) c.*1980del (n.*1980del) c.3599del (p.Asp1200AlafsTer9) c.*3429del (n.*3429del) c.3179del (p.Asp1060AlafsTer9) c.353del (p.Asp118AlafsTer9) c.1392del (n.1392del) c.187del c.1167+88del c.2387del (p.Asp796AlafsTer9) c.3515del (p.Asp1172AlafsTer9) c.430del c.3695del (p.Asp1232AlafsTer9) c.3362del (p.Asp1121AlafsTer9) | ClinVar dbSNP |
7 | g.117627658A= | CA1737398678 | CFTR | c.3517+88A= (n.3517+88A=) c.*3319A= (n.*3319A=) c.3422A= (p.Asp1141=) c.3605A= (p.Asp1202=) c.*258A= (n.*258A=) c.*266A= (n.*266A=) c.*1980A= (n.*1980A=) c.3599A= (p.Asp1200=) c.*3429A= (n.*3429A=) c.3179A= (p.Asp1060=) c.353A= (p.Asp118=) c.1392A= (n.1392A=) c.187A= c.1167+88A= c.2387A= (p.Asp796=) c.3515A= (p.Asp1172=) c.430A= c.3695A= (p.Asp1232=) c.3362A= (p.Asp1121=) | |
7 | g.117627658A>C | CA368997145 | CFTR | c.3517+88A>C (n.3517+88A>C) c.*3319A>C (n.*3319A>C) c.3422A>C (p.Asp1141Ala) c.3605A>C (p.Asp1202Ala) c.*258A>C (n.*258A>C) c.*266A>C (n.*266A>C) c.*1980A>C (n.*1980A>C) c.3599A>C (p.Asp1200Ala) c.*3429A>C (n.*3429A>C) c.3179A>C (p.Asp1060Ala) c.353A>C (p.Asp118Ala) c.1392A>C (n.1392A>C) c.187A>C c.1167+88A>C c.2387A>C (p.Asp796Ala) c.3515A>C (p.Asp1172Ala) c.430A>C c.3695A>C (p.Asp1232Ala) c.3362A>C (p.Asp1121Ala) | |
7 | g.117627658A>G | CA368997147 | CFTR | c.3517+88A>G (n.3517+88A>G) c.*3319A>G (n.*3319A>G) c.3422A>G (p.Asp1141Gly) c.3605A>G (p.Asp1202Gly) c.*258A>G (n.*258A>G) c.*266A>G (n.*266A>G) c.*1980A>G (n.*1980A>G) c.3599A>G (p.Asp1200Gly) c.*3429A>G (n.*3429A>G) c.3179A>G (p.Asp1060Gly) c.353A>G (p.Asp118Gly) c.1392A>G (n.1392A>G) c.187A>G c.1167+88A>G c.2387A>G (p.Asp796Gly) c.3515A>G (p.Asp1172Gly) c.430A>G c.3695A>G (p.Asp1232Gly) c.3362A>G (p.Asp1121Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.117627658A>T | CA368997149 | CFTR | c.3517+88A>T (n.3517+88A>T) c.*3319A>T (n.*3319A>T) c.3422A>T (p.Asp1141Val) c.3605A>T (p.Asp1202Val) c.*258A>T (n.*258A>T) c.*266A>T (n.*266A>T) c.*1980A>T (n.*1980A>T) c.3599A>T (p.Asp1200Val) c.*3429A>T (n.*3429A>T) c.3179A>T (p.Asp1060Val) c.353A>T (p.Asp118Val) c.1392A>T (n.1392A>T) c.187A>T c.1167+88A>T c.2387A>T (p.Asp796Val) c.3515A>T (p.Asp1172Val) c.430A>T c.3695A>T (p.Asp1232Val) c.3362A>T (p.Asp1121Val) | |
7 | g.117627659C>A | CA368997152 | CFTR | c.3517+89C>A (n.3517+89C>A) c.*3320C>A (n.*3320C>A) c.3423C>A (p.Asp1141Glu) c.3606C>A (p.Asp1202Glu) c.*259C>A (n.*259C>A) c.*267C>A (n.*267C>A) c.*1981C>A (n.*1981C>A) c.3600C>A (p.Asp1200Glu) c.*3430C>A (n.*3430C>A) c.3180C>A (p.Asp1060Glu) c.354C>A (p.Asp118Glu) c.1393C>A (n.1393C>A) c.188C>A c.1167+89C>A c.2388C>A (p.Asp796Glu) c.3516C>A (p.Asp1172Glu) c.431C>A c.3696C>A (p.Asp1232Glu) c.3363C>A (p.Asp1121Glu) | |
7 | g.117627659C>G | CA368997154 | CFTR | c.3517+89C>G (n.3517+89C>G) c.*3320C>G (n.*3320C>G) c.3423C>G (p.Asp1141Glu) c.3606C>G (p.Asp1202Glu) c.*259C>G (n.*259C>G) c.*267C>G (n.*267C>G) c.*1981C>G (n.*1981C>G) c.3600C>G (p.Asp1200Glu) c.*3430C>G (n.*3430C>G) c.3180C>G (p.Asp1060Glu) c.354C>G (p.Asp118Glu) c.1393C>G (n.1393C>G) c.188C>G c.1167+89C>G c.2388C>G (p.Asp796Glu) c.3516C>G (p.Asp1172Glu) c.431C>G c.3696C>G (p.Asp1232Glu) c.3363C>G (p.Asp1121Glu) | |
7 | g.117627659C>T | CA457231419 | CFTR | c.3517+89C>T (n.3517+89C>T) c.*3320C>T (n.*3320C>T) c.3423C>T (p.Asp1141=) c.3606C>T (p.Asp1202=) c.*259C>T (n.*259C>T) c.*267C>T (n.*267C>T) c.*1981C>T (n.*1981C>T) c.3600C>T (p.Asp1200=) c.*3430C>T (n.*3430C>T) c.3180C>T (p.Asp1060=) c.354C>T (p.Asp118=) c.1393C>T (n.1393C>T) c.188C>T c.1167+89C>T c.2388C>T (p.Asp796=) c.3516C>T (p.Asp1172=) c.431C>T c.3696C>T (p.Asp1232=) c.3363C>T (p.Asp1121=) | ClinVar dbSNP |
7 | g.117627660A= | CA1737398679 | CFTR | c.3517+90A= (n.3517+90A=) c.*3321A= (n.*3321A=) c.3424A= (p.Ile1142=) c.3607A= (p.Ile1203=) c.*260A= (n.*260A=) c.*268A= (n.*268A=) c.*1982A= (n.*1982A=) c.3601A= (p.Ile1201=) c.*3431A= (n.*3431A=) c.3181A= (p.Ile1061=) c.355A= (p.Ile119=) c.1394A= (n.1394A=) c.189A= c.1167+90A= c.2389A= (p.Ile797=) c.3517A= (p.Ile1173=) c.432A= c.3697A= (p.Ile1233=) c.3364A= (p.Ile1122=) | |
7 | g.117627660A>C | CA368997156 | CFTR | c.3517+90A>C (n.3517+90A>C) c.*3321A>C (n.*3321A>C) c.3424A>C (p.Ile1142Leu) c.3607A>C (p.Ile1203Leu) c.*260A>C (n.*260A>C) c.*268A>C (n.*268A>C) c.*1982A>C (n.*1982A>C) c.3601A>C (p.Ile1201Leu) c.*3431A>C (n.*3431A>C) c.3181A>C (p.Ile1061Leu) c.355A>C (p.Ile119Leu) c.1394A>C (n.1394A>C) c.189A>C c.1167+90A>C c.2389A>C (p.Ile797Leu) c.3517A>C (p.Ile1173Leu) c.432A>C c.3697A>C (p.Ile1233Leu) c.3364A>C (p.Ile1122Leu) | |
7 | g.117627660A>G | CA233702 | CFTR | c.3517+90A>G (n.3517+90A>G) c.*3321A>G (n.*3321A>G) c.3424A>G (p.Ile1142Val) c.3607A>G (p.Ile1203Val) c.*260A>G (n.*260A>G) c.*268A>G (n.*268A>G) c.*1982A>G (n.*1982A>G) c.3601A>G (p.Ile1201Val) c.*3431A>G (n.*3431A>G) c.3181A>G (p.Ile1061Val) c.355A>G (p.Ile119Val) c.1394A>G (n.1394A>G) c.189A>G c.1167+90A>G c.2389A>G (p.Ile797Val) c.3517A>G (p.Ile1173Val) c.432A>G c.3697A>G (p.Ile1233Val) c.3364A>G (p.Ile1122Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627660A>T | CA368997159 | CFTR | c.3517+90A>T (n.3517+90A>T) c.*3321A>T (n.*3321A>T) c.3424A>T (p.Ile1142Phe) c.3607A>T (p.Ile1203Phe) c.*260A>T (n.*260A>T) c.*268A>T (n.*268A>T) c.*1982A>T (n.*1982A>T) c.3601A>T (p.Ile1201Phe) c.*3431A>T (n.*3431A>T) c.3181A>T (p.Ile1061Phe) c.355A>T (p.Ile119Phe) c.1394A>T (n.1394A>T) c.189A>T c.1167+90A>T c.2389A>T (p.Ile797Phe) c.3517A>T (p.Ile1173Phe) c.432A>T c.3697A>T (p.Ile1233Phe) c.3364A>T (p.Ile1122Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627661T>A | CA368997161 | CFTR | c.3517+91T>A (n.3517+91T>A) c.*3322T>A (n.*3322T>A) c.3425T>A (p.Ile1142Asn) c.3608T>A (p.Ile1203Asn) c.*261T>A (n.*261T>A) c.*269T>A (n.*269T>A) c.*1983T>A (n.*1983T>A) c.3602T>A (p.Ile1201Asn) c.*3432T>A (n.*3432T>A) c.3182T>A (p.Ile1061Asn) c.356T>A (p.Ile119Asn) c.1395T>A (n.1395T>A) c.190T>A c.1167+91T>A c.2390T>A (p.Ile797Asn) c.3518T>A (p.Ile1173Asn) c.433T>A c.3698T>A (p.Ile1233Asn) c.3365T>A (p.Ile1122Asn) | |
7 | g.117627661T>C | CA368997162 | CFTR | c.3517+91T>C (n.3517+91T>C) c.*3322T>C (n.*3322T>C) c.3425T>C (p.Ile1142Thr) c.3608T>C (p.Ile1203Thr) c.*261T>C (n.*261T>C) c.*269T>C (n.*269T>C) c.*1983T>C (n.*1983T>C) c.3602T>C (p.Ile1201Thr) c.*3432T>C (n.*3432T>C) c.3182T>C (p.Ile1061Thr) c.356T>C (p.Ile119Thr) c.1395T>C (n.1395T>C) c.190T>C c.1167+91T>C c.2390T>C (p.Ile797Thr) c.3518T>C (p.Ile1173Thr) c.433T>C c.3698T>C (p.Ile1233Thr) c.3365T>C (p.Ile1122Thr) | |
7 | g.117627661T>G | CA368997164 | CFTR | c.3517+91T>G (n.3517+91T>G) c.*3322T>G (n.*3322T>G) c.3425T>G (p.Ile1142Ser) c.3608T>G (p.Ile1203Ser) c.*261T>G (n.*261T>G) c.*269T>G (n.*269T>G) c.*1983T>G (n.*1983T>G) c.3602T>G (p.Ile1201Ser) c.*3432T>G (n.*3432T>G) c.3182T>G (p.Ile1061Ser) c.356T>G (p.Ile119Ser) c.1395T>G (n.1395T>G) c.190T>G c.1167+91T>G c.2390T>G (p.Ile797Ser) c.3518T>G (p.Ile1173Ser) c.433T>G c.3698T>G (p.Ile1233Ser) c.3365T>G (p.Ile1122Ser) | |
7 | g.117627662C>A | CA457231420 | CFTR | c.3517+92C>A (n.3517+92C>A) c.*3323C>A (n.*3323C>A) c.3426C>A (p.Ile1142=) c.3609C>A (p.Ile1203=) c.*262C>A (n.*262C>A) c.*270C>A (n.*270C>A) c.*1984C>A (n.*1984C>A) c.3603C>A (p.Ile1201=) c.*3433C>A (n.*3433C>A) c.3183C>A (p.Ile1061=) c.357C>A (p.Ile119=) c.1396C>A (n.1396C>A) c.191C>A c.1167+92C>A c.2391C>A (p.Ile797=) c.3519C>A (p.Ile1173=) c.434C>A c.3699C>A (p.Ile1233=) c.3366C>A (p.Ile1122=) | |
7 | g.117627662C>G | CA368997165 | CFTR | c.3517+92C>G (n.3517+92C>G) c.*3323C>G (n.*3323C>G) c.3426C>G (p.Ile1142Met) c.3609C>G (p.Ile1203Met) c.*262C>G (n.*262C>G) c.*270C>G (n.*270C>G) c.*1984C>G (n.*1984C>G) c.3603C>G (p.Ile1201Met) c.*3433C>G (n.*3433C>G) c.3183C>G (p.Ile1061Met) c.357C>G (p.Ile119Met) c.1396C>G (n.1396C>G) c.191C>G c.1167+92C>G c.2391C>G (p.Ile797Met) c.3519C>G (p.Ile1173Met) c.434C>G c.3699C>G (p.Ile1233Met) c.3366C>G (p.Ile1122Met) | |
7 | g.117627662C>T | CA457231421 | CFTR | c.3517+92C>T (n.3517+92C>T) c.*3323C>T (n.*3323C>T) c.3426C>T (p.Ile1142=) c.3609C>T (p.Ile1203=) c.*262C>T (n.*262C>T) c.*270C>T (n.*270C>T) c.*1984C>T (n.*1984C>T) c.3603C>T (p.Ile1201=) c.*3433C>T (n.*3433C>T) c.3183C>T (p.Ile1061=) c.357C>T (p.Ile119=) c.1396C>T (n.1396C>T) c.191C>T c.1167+92C>T c.2391C>T (p.Ile797=) c.3519C>T (p.Ile1173=) c.434C>T c.3699C>T (p.Ile1233=) c.3366C>T (p.Ile1122=) | ClinVar COSMIC |
7 | g.117627663T>A | CA368997171 | CFTR | c.3517+93T>A (n.3517+93T>A) c.*3324T>A (n.*3324T>A) c.3427T>A (p.Trp1143Arg) c.3610T>A (p.Trp1204Arg) c.*263T>A (n.*263T>A) c.*271T>A (n.*271T>A) c.*1985T>A (n.*1985T>A) c.3604T>A (p.Trp1202Arg) c.*3434T>A (n.*3434T>A) c.3184T>A (p.Trp1062Arg) c.358T>A (p.Trp120Arg) c.1397T>A (n.1397T>A) c.192T>A c.1167+93T>A c.2392T>A (p.Trp798Arg) c.3520T>A (p.Trp1174Arg) c.435T>A c.3700T>A (p.Trp1234Arg) c.3367T>A (p.Trp1123Arg) | |
7 | g.117627663T>C | CA368997168 | CFTR | c.3517+93T>C (n.3517+93T>C) c.*3324T>C (n.*3324T>C) c.3427T>C (p.Trp1143Arg) c.3610T>C (p.Trp1204Arg) c.*263T>C (n.*263T>C) c.*271T>C (n.*271T>C) c.*1985T>C (n.*1985T>C) c.3604T>C (p.Trp1202Arg) c.*3434T>C (n.*3434T>C) c.3184T>C (p.Trp1062Arg) c.358T>C (p.Trp120Arg) c.1397T>C (n.1397T>C) c.192T>C c.1167+93T>C c.2392T>C (p.Trp798Arg) c.3520T>C (p.Trp1174Arg) c.435T>C c.3700T>C (p.Trp1234Arg) c.3367T>C (p.Trp1123Arg) | |
7 | g.117627663T>G | CA368997169 | CFTR | c.3517+93T>G (n.3517+93T>G) c.*3324T>G (n.*3324T>G) c.3427T>G (p.Trp1143Gly) c.3610T>G (p.Trp1204Gly) c.*263T>G (n.*263T>G) c.*271T>G (n.*271T>G) c.*1985T>G (n.*1985T>G) c.3604T>G (p.Trp1202Gly) c.*3434T>G (n.*3434T>G) c.3184T>G (p.Trp1062Gly) c.358T>G (p.Trp120Gly) c.1397T>G (n.1397T>G) c.192T>G c.1167+93T>G c.2392T>G (p.Trp798Gly) c.3520T>G (p.Trp1174Gly) c.435T>G c.3700T>G (p.Trp1234Gly) c.3367T>G (p.Trp1123Gly) | |
7 | g.117627664G>A | CA325599 | CFTR | c.3517+94G>A (n.3517+94G>A) c.*3325G>A (n.*3325G>A) c.3428G>A (p.Trp1143Ter) c.3611G>A (p.Trp1204Ter) c.*264G>A (n.*264G>A) c.*272G>A (n.*272G>A) c.*1986G>A (n.*1986G>A) c.3605G>A (p.Trp1202Ter) c.*3435G>A (n.*3435G>A) c.3185G>A (p.Trp1062Ter) c.359G>A (p.Trp120Ter) c.1398G>A (n.1398G>A) c.193G>A c.1167+94G>A c.2393G>A (p.Trp798Ter) c.3521G>A (p.Trp1174Ter) c.436G>A c.3701G>A (p.Trp1234Ter) c.3368G>A (p.Trp1123Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117627664G>C | CA368997174 | CFTR | c.3517+94G>C (n.3517+94G>C) c.*3325G>C (n.*3325G>C) c.3428G>C (p.Trp1143Ser) c.3611G>C (p.Trp1204Ser) c.*264G>C (n.*264G>C) c.*272G>C (n.*272G>C) c.*1986G>C (n.*1986G>C) c.3605G>C (p.Trp1202Ser) c.*3435G>C (n.*3435G>C) c.3185G>C (p.Trp1062Ser) c.359G>C (p.Trp120Ser) c.1398G>C (n.1398G>C) c.193G>C c.1167+94G>C c.2393G>C (p.Trp798Ser) c.3521G>C (p.Trp1174Ser) c.436G>C c.3701G>C (p.Trp1234Ser) c.3368G>C (p.Trp1123Ser) | |
7 | g.117627664G= | CA1737398680 | CFTR | c.3517+94G= (n.3517+94G=) c.*3325G= (n.*3325G=) c.3428G= (p.Trp1143=) c.3611G= (p.Trp1204=) c.*264G= (n.*264G=) c.*272G= (n.*272G=) c.*1986G= (n.*1986G=) c.3605G= (p.Trp1202=) c.*3435G= (n.*3435G=) c.3185G= (p.Trp1062=) c.359G= (p.Trp120=) c.1398G= (n.1398G=) c.193G= c.1167+94G= c.2393G= (p.Trp798=) c.3521G= (p.Trp1174=) c.436G= c.3701G= (p.Trp1234=) c.3368G= (p.Trp1123=) | |
7 | g.117627664G>T | CA368997176 | CFTR | c.3517+94G>T (n.3517+94G>T) c.*3325G>T (n.*3325G>T) c.3428G>T (p.Trp1143Leu) c.3611G>T (p.Trp1204Leu) c.*264G>T (n.*264G>T) c.*272G>T (n.*272G>T) c.*1986G>T (n.*1986G>T) c.3605G>T (p.Trp1202Leu) c.*3435G>T (n.*3435G>T) c.3185G>T (p.Trp1062Leu) c.359G>T (p.Trp120Leu) c.1398G>T (n.1398G>T) c.193G>T c.1167+94G>T c.2393G>T (p.Trp798Leu) c.3521G>T (p.Trp1174Leu) c.436G>T c.3701G>T (p.Trp1234Leu) c.3368G>T (p.Trp1123Leu) | ClinVar |
7 | g.117627665G>A | CA221029 | CFTR | c.3517+95G>A (n.3517+95G>A) c.*3326G>A (n.*3326G>A) c.3429G>A (p.Trp1143Ter) c.3612G>A (p.Trp1204Ter) c.*265G>A (n.*265G>A) c.*273G>A (n.*273G>A) c.*1987G>A (n.*1987G>A) c.3606G>A (p.Trp1202Ter) c.*3436G>A (n.*3436G>A) c.3186G>A (p.Trp1062Ter) c.360G>A (p.Trp120Ter) c.1399G>A (n.1399G>A) c.194G>A c.1167+95G>A c.2394G>A (p.Trp798Ter) c.3522G>A (p.Trp1174Ter) c.437G>A c.3702G>A (p.Trp1234Ter) c.3369G>A (p.Trp1123Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627665G>C | CA368997179 | CFTR | c.3517+95G>C (n.3517+95G>C) c.*3326G>C (n.*3326G>C) c.3429G>C (p.Trp1143Cys) c.3612G>C (p.Trp1204Cys) c.*265G>C (n.*265G>C) c.*273G>C (n.*273G>C) c.*1987G>C (n.*1987G>C) c.3606G>C (p.Trp1202Cys) c.*3436G>C (n.*3436G>C) c.3186G>C (p.Trp1062Cys) c.360G>C (p.Trp120Cys) c.1399G>C (n.1399G>C) c.194G>C c.1167+95G>C c.2394G>C (p.Trp798Cys) c.3522G>C (p.Trp1174Cys) c.437G>C c.3702G>C (p.Trp1234Cys) c.3369G>C (p.Trp1123Cys) | |
7 | g.117627665G= | CA1737398681 | CFTR | c.3517+95G= (n.3517+95G=) c.*3326G= (n.*3326G=) c.3429G= (p.Trp1143=) c.3612G= (p.Trp1204=) c.*265G= (n.*265G=) c.*273G= (n.*273G=) c.*1987G= (n.*1987G=) c.3606G= (p.Trp1202=) c.*3436G= (n.*3436G=) c.3186G= (p.Trp1062=) c.360G= (p.Trp120=) c.1399G= (n.1399G=) c.194G= c.1167+95G= c.2394G= (p.Trp798=) c.3522G= (p.Trp1174=) c.437G= c.3702G= (p.Trp1234=) c.3369G= (p.Trp1123=) | |
7 | g.117627665G>T | CA368997180 | CFTR | c.3517+95G>T (n.3517+95G>T) c.*3326G>T (n.*3326G>T) c.3429G>T (p.Trp1143Cys) c.3612G>T (p.Trp1204Cys) c.*265G>T (n.*265G>T) c.*273G>T (n.*273G>T) c.*1987G>T (n.*1987G>T) c.3606G>T (p.Trp1202Cys) c.*3436G>T (n.*3436G>T) c.3186G>T (p.Trp1062Cys) c.360G>T (p.Trp120Cys) c.1399G>T (n.1399G>T) c.194G>T c.1167+95G>T c.2394G>T (p.Trp798Cys) c.3522G>T (p.Trp1174Cys) c.437G>T c.3702G>T (p.Trp1234Cys) c.3369G>T (p.Trp1123Cys) | dbSNP |