| 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=) |