| 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.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 |
| 7 | g.117627666C>A | CA368997183 | CFTR | c.3517+96C>A (n.3517+96C>A) c.*3327C>A (n.*3327C>A) c.3430C>A (p.Pro1144Thr) c.3613C>A (p.Pro1205Thr) c.*266C>A (n.*266C>A) c.*274C>A (n.*274C>A) c.*1988C>A (n.*1988C>A) c.3607C>A (p.Pro1203Thr) c.*3437C>A (n.*3437C>A) c.3187C>A (p.Pro1063Thr) c.361C>A (p.Pro121Thr) c.1400C>A (n.1400C>A) c.195C>A c.1167+96C>A c.2395C>A (p.Pro799Thr) c.3523C>A (p.Pro1175Thr) c.438C>A c.3703C>A (p.Pro1235Thr) c.3370C>A (p.Pro1124Thr) | |
| 7 | g.117627666C>G | CA368997185 | CFTR | c.3517+96C>G (n.3517+96C>G) c.*3327C>G (n.*3327C>G) c.3430C>G (p.Pro1144Ala) c.3613C>G (p.Pro1205Ala) c.*266C>G (n.*266C>G) c.*274C>G (n.*274C>G) c.*1988C>G (n.*1988C>G) c.3607C>G (p.Pro1203Ala) c.*3437C>G (n.*3437C>G) c.3187C>G (p.Pro1063Ala) c.361C>G (p.Pro121Ala) c.1400C>G (n.1400C>G) c.195C>G c.1167+96C>G c.2395C>G (p.Pro799Ala) c.3523C>G (p.Pro1175Ala) c.438C>G c.3703C>G (p.Pro1235Ala) c.3370C>G (p.Pro1124Ala) | |
| 7 | g.117627666C>T | CA368997187 | CFTR | c.3517+96C>T (n.3517+96C>T) c.*3327C>T (n.*3327C>T) c.3430C>T (p.Pro1144Ser) c.3613C>T (p.Pro1205Ser) c.*266C>T (n.*266C>T) c.*274C>T (n.*274C>T) c.*1988C>T (n.*1988C>T) c.3607C>T (p.Pro1203Ser) c.*3437C>T (n.*3437C>T) c.3187C>T (p.Pro1063Ser) c.361C>T (p.Pro121Ser) c.1400C>T (n.1400C>T) c.195C>T c.1167+96C>T c.2395C>T (p.Pro799Ser) c.3523C>T (p.Pro1175Ser) c.438C>T c.3703C>T (p.Pro1235Ser) c.3370C>T (p.Pro1124Ser) | gnomAD v4 |
| 7 | g.117627667C>A | CA368997189 | CFTR | c.3517+97C>A (n.3517+97C>A) c.*3328C>A (n.*3328C>A) c.3431C>A (p.Pro1144His) c.3614C>A (p.Pro1205His) c.*267C>A (n.*267C>A) c.*275C>A (n.*275C>A) c.*1989C>A (n.*1989C>A) c.3608C>A (p.Pro1203His) c.*3438C>A (n.*3438C>A) c.3188C>A (p.Pro1063His) c.362C>A (p.Pro121His) c.1401C>A (n.1401C>A) c.196C>A c.1167+97C>A c.2396C>A (p.Pro799His) c.3524C>A (p.Pro1175His) c.439C>A c.3704C>A (p.Pro1235His) c.3371C>A (p.Pro1124His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627667C= | CA1737398682 | CFTR | c.3517+97C= (n.3517+97C=) c.*3328C= (n.*3328C=) c.3431C= (p.Pro1144=) c.3614C= (p.Pro1205=) c.*267C= (n.*267C=) c.*275C= (n.*275C=) c.*1989C= (n.*1989C=) c.3608C= (p.Pro1203=) c.*3438C= (n.*3438C=) c.3188C= (p.Pro1063=) c.362C= (p.Pro121=) c.1401C= (n.1401C=) c.196C= c.1167+97C= c.2396C= (p.Pro799=) c.3524C= (p.Pro1175=) c.439C= c.3704C= (p.Pro1235=) c.3371C= (p.Pro1124=) | |
| 7 | g.117627667C>G | CA368997191 | CFTR | c.3517+97C>G (n.3517+97C>G) c.*3328C>G (n.*3328C>G) c.3431C>G (p.Pro1144Arg) c.3614C>G (p.Pro1205Arg) c.*267C>G (n.*267C>G) c.*275C>G (n.*275C>G) c.*1989C>G (n.*1989C>G) c.3608C>G (p.Pro1203Arg) c.*3438C>G (n.*3438C>G) c.3188C>G (p.Pro1063Arg) c.362C>G (p.Pro121Arg) c.1401C>G (n.1401C>G) c.196C>G c.1167+97C>G c.2396C>G (p.Pro799Arg) c.3524C>G (p.Pro1175Arg) c.439C>G c.3704C>G (p.Pro1235Arg) c.3371C>G (p.Pro1124Arg) | ClinVar dbSNP |
| 7 | g.117627667C>T | CA368997194 | CFTR | c.3517+97C>T (n.3517+97C>T) c.*3328C>T (n.*3328C>T) c.3431C>T (p.Pro1144Leu) c.3614C>T (p.Pro1205Leu) c.*267C>T (n.*267C>T) c.*275C>T (n.*275C>T) c.*1989C>T (n.*1989C>T) c.3608C>T (p.Pro1203Leu) c.*3438C>T (n.*3438C>T) c.3188C>T (p.Pro1063Leu) c.362C>T (p.Pro121Leu) c.1401C>T (n.1401C>T) c.196C>T c.1167+97C>T c.2396C>T (p.Pro799Leu) c.3524C>T (p.Pro1175Leu) c.439C>T c.3704C>T (p.Pro1235Leu) c.3371C>T (p.Pro1124Leu) | |
| 7 | g.117627668C>A | CA457231425 | CFTR | c.3517+98C>A (n.3517+98C>A) c.*3329C>A (n.*3329C>A) c.3432C>A (p.Pro1144=) c.3615C>A (p.Pro1205=) c.*268C>A (n.*268C>A) c.*276C>A (n.*276C>A) c.*1990C>A (n.*1990C>A) c.3609C>A (p.Pro1203=) c.*3439C>A (n.*3439C>A) c.3189C>A (p.Pro1063=) c.363C>A (p.Pro121=) c.1402C>A (n.1402C>A) c.197C>A c.1167+98C>A c.2397C>A (p.Pro799=) c.3525C>A (p.Pro1175=) c.440C>A c.3705C>A (p.Pro1235=) c.3372C>A (p.Pro1124=) | |
| 7 | g.117627668C= | CA1737398683 | CFTR | c.3517+98C= (n.3517+98C=) c.*3329C= (n.*3329C=) c.3432C= (p.Pro1144=) c.3615C= (p.Pro1205=) c.*268C= (n.*268C=) c.*276C= (n.*276C=) c.*1990C= (n.*1990C=) c.3609C= (p.Pro1203=) c.*3439C= (n.*3439C=) c.3189C= (p.Pro1063=) c.363C= (p.Pro121=) c.1402C= (n.1402C=) c.197C= c.1167+98C= c.2397C= (p.Pro799=) c.3525C= (p.Pro1175=) c.440C= c.3705C= (p.Pro1235=) c.3372C= (p.Pro1124=) | |
| 7 | g.117627668C>G | CA457231424 | CFTR | c.3517+98C>G (n.3517+98C>G) c.*3329C>G (n.*3329C>G) c.3432C>G (p.Pro1144=) c.3615C>G (p.Pro1205=) c.*268C>G (n.*268C>G) c.*276C>G (n.*276C>G) c.*1990C>G (n.*1990C>G) c.3609C>G (p.Pro1203=) c.*3439C>G (n.*3439C>G) c.3189C>G (p.Pro1063=) c.363C>G (p.Pro121=) c.1402C>G (n.1402C>G) c.197C>G c.1167+98C>G c.2397C>G (p.Pro799=) c.3525C>G (p.Pro1175=) c.440C>G c.3705C>G (p.Pro1235=) c.3372C>G (p.Pro1124=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117627668C>T | CA457231423 | CFTR | c.3517+98C>T (n.3517+98C>T) c.*3329C>T (n.*3329C>T) c.3432C>T (p.Pro1144=) c.3615C>T (p.Pro1205=) c.*268C>T (n.*268C>T) c.*276C>T (n.*276C>T) c.*1990C>T (n.*1990C>T) c.3609C>T (p.Pro1203=) c.*3439C>T (n.*3439C>T) c.3189C>T (p.Pro1063=) c.363C>T (p.Pro121=) c.1402C>T (n.1402C>T) c.197C>T c.1167+98C>T c.2397C>T (p.Pro799=) c.3525C>T (p.Pro1175=) c.440C>T c.3705C>T (p.Pro1235=) c.3372C>T (p.Pro1124=) | ClinVar gnomAD v4 |
| 7 | g.117627669T>A | CA368997196 | CFTR | c.3517+99T>A (n.3517+99T>A) c.*3330T>A (n.*3330T>A) c.3433T>A (p.Ser1145Thr) c.3616T>A (p.Ser1206Thr) c.*269T>A (n.*269T>A) c.*277T>A (n.*277T>A) c.*1991T>A (n.*1991T>A) c.3610T>A (p.Ser1204Thr) c.*3440T>A (n.*3440T>A) c.3190T>A (p.Ser1064Thr) c.364T>A (p.Ser122Thr) c.1403T>A (n.1403T>A) c.198T>A c.1167+99T>A c.2398T>A (p.Ser800Thr) c.3526T>A (p.Ser1176Thr) c.441T>A c.3706T>A (p.Ser1236Thr) c.3373T>A (p.Ser1125Thr) | |
| 7 | g.117627669T>C | CA368997200 | CFTR | c.3517+99T>C (n.3517+99T>C) c.*3330T>C (n.*3330T>C) c.3433T>C (p.Ser1145Pro) c.3616T>C (p.Ser1206Pro) c.*269T>C (n.*269T>C) c.*277T>C (n.*277T>C) c.*1991T>C (n.*1991T>C) c.3610T>C (p.Ser1204Pro) c.*3440T>C (n.*3440T>C) c.3190T>C (p.Ser1064Pro) c.364T>C (p.Ser122Pro) c.1403T>C (n.1403T>C) c.198T>C c.1167+99T>C c.2398T>C (p.Ser800Pro) c.3526T>C (p.Ser1176Pro) c.441T>C c.3706T>C (p.Ser1236Pro) c.3373T>C (p.Ser1125Pro) | |
| 7 | g.117627669T>G | CA368997198 | CFTR | c.3517+99T>G (n.3517+99T>G) c.*3330T>G (n.*3330T>G) c.3433T>G (p.Ser1145Ala) c.3616T>G (p.Ser1206Ala) c.*269T>G (n.*269T>G) c.*277T>G (n.*277T>G) c.*1991T>G (n.*1991T>G) c.3610T>G (p.Ser1204Ala) c.*3440T>G (n.*3440T>G) c.3190T>G (p.Ser1064Ala) c.364T>G (p.Ser122Ala) c.1403T>G (n.1403T>G) c.198T>G c.1167+99T>G c.2398T>G (p.Ser800Ala) c.3526T>G (p.Ser1176Ala) c.441T>G c.3706T>G (p.Ser1236Ala) c.3373T>G (p.Ser1125Ala) | dbSNP gnomAD v4 |
| 7 | g.117627669T= | CA1737398684 | CFTR | c.3517+99T= (n.3517+99T=) c.*3330T= (n.*3330T=) c.3433T= (p.Ser1145=) c.3616T= (p.Ser1206=) c.*269T= (n.*269T=) c.*277T= (n.*277T=) c.*1991T= (n.*1991T=) c.3610T= (p.Ser1204=) c.*3440T= (n.*3440T=) c.3190T= (p.Ser1064=) c.364T= (p.Ser122=) c.1403T= (n.1403T=) c.198T= c.1167+99T= c.2398T= (p.Ser800=) c.3526T= (p.Ser1176=) c.441T= c.3706T= (p.Ser1236=) c.3373T= (p.Ser1125=) | |
| 7 | g.117627670C>A | CA327240 | CFTR | c.3517+100C>A (n.3517+100C>A) c.*3331C>A (n.*3331C>A) c.3434C>A (p.Ser1145Ter) c.3617C>A (p.Ser1206Ter) c.*270C>A (n.*270C>A) c.*278C>A (n.*278C>A) c.*1992C>A (n.*1992C>A) c.3611C>A (p.Ser1204Ter) c.*3441C>A (n.*3441C>A) c.3191C>A (p.Ser1064Ter) c.365C>A (p.Ser122Ter) c.1404C>A (n.1404C>A) c.199C>A c.1167+100C>A c.2399C>A (p.Ser800Ter) c.3527C>A (p.Ser1176Ter) c.442C>A c.3707C>A (p.Ser1236Ter) c.3374C>A (p.Ser1125Ter) | ClinVar dbSNP |
| 7 | g.117627670C= | CA1737398685 | CFTR | c.3517+100C= (n.3517+100C=) c.*3331C= (n.*3331C=) c.3434C= (p.Ser1145=) c.3617C= (p.Ser1206=) c.*270C= (n.*270C=) c.*278C= (n.*278C=) c.*1992C= (n.*1992C=) c.3611C= (p.Ser1204=) c.*3441C= (n.*3441C=) c.3191C= (p.Ser1064=) c.365C= (p.Ser122=) c.1404C= (n.1404C=) c.199C= c.1167+100C= c.2399C= (p.Ser800=) c.3527C= (p.Ser1176=) c.442C= c.3707C= (p.Ser1236=) c.3374C= (p.Ser1125=) | |
| 7 | g.117627670C>G | CA327242 | CFTR | c.3517+100C>G (n.3517+100C>G) c.*3331C>G (n.*3331C>G) c.3434C>G (p.Ser1145Ter) c.3617C>G (p.Ser1206Ter) c.*270C>G (n.*270C>G) c.*278C>G (n.*278C>G) c.*1992C>G (n.*1992C>G) c.3611C>G (p.Ser1204Ter) c.*3441C>G (n.*3441C>G) c.3191C>G (p.Ser1064Ter) c.365C>G (p.Ser122Ter) c.1404C>G (n.1404C>G) c.199C>G c.1167+100C>G c.2399C>G (p.Ser800Ter) c.3527C>G (p.Ser1176Ter) c.442C>G c.3707C>G (p.Ser1236Ter) c.3374C>G (p.Ser1125Ter) | ClinVar dbSNP |
| 7 | g.117627670C>T | CA368997203 | CFTR | c.3517+100C>T (n.3517+100C>T) c.*3331C>T (n.*3331C>T) c.3434C>T (p.Ser1145Leu) c.3617C>T (p.Ser1206Leu) c.*270C>T (n.*270C>T) c.*278C>T (n.*278C>T) c.*1992C>T (n.*1992C>T) c.3611C>T (p.Ser1204Leu) c.*3441C>T (n.*3441C>T) c.3191C>T (p.Ser1064Leu) c.365C>T (p.Ser122Leu) c.1404C>T (n.1404C>T) c.199C>T c.1167+100C>T c.2399C>T (p.Ser800Leu) c.3527C>T (p.Ser1176Leu) c.442C>T c.3707C>T (p.Ser1236Leu) c.3374C>T (p.Ser1125Leu) | |
| 7 | g.117627670_117627672delinsCAG | CA1737398686 | CFTR | c.3517+100_3517+102delinsCAG (n.3517+100_3517+102delinsCAG) c.*3331_*3333delinsCAG (n.*3331_*3333delinsCAG) c.3434_3436delinsCAG (p.Ser1145=) c.3617_3619delinsCAG (p.Ser1206=) c.*270_*272delinsCAG (n.*270_*272delinsCAG) c.*278_*280delinsCAG (n.*278_*280delinsCAG) c.*1992_*1994delinsCAG (n.*1992_*1994delinsCAG) c.3611_3613delinsCAG (p.Ser1204=) c.*3441_*3443delinsCAG (n.*3441_*3443delinsCAG) c.3191_3193delinsCAG (p.Ser1064=) c.365_367delinsCAG (p.Ser122=) c.1404_1406delinsCAG (n.1404_1406delinsCAG) c.199_201delinsCAG c.1167+100_1167+102delinsCAG c.2399_2401delinsCAG (p.Ser800=) c.3527_3529delinsCAG (p.Ser1176=) c.442_444delinsCAG c.3707_3709delinsCAG (p.Ser1236=) c.3374_3376delinsCAG (p.Ser1125=) | |
| 7 | g.117627671del | CA2695208378 | CFTR | c.3517+101del (n.3517+101del) c.*3332del (n.*3332del) c.3435del (p.Gly1147AlafsTer3) c.3618del (p.Gly1208AlafsTer3) c.*271del (n.*271del) c.*279del (n.*279del) c.*1993del (n.*1993del) c.3612del (p.Gly1206AlafsTer3) c.*3442del (n.*3442del) c.3192del (p.Gly1066AlafsTer3) c.366del (p.Gly124AlafsTer3) c.1405del (n.1405del) c.200del c.1167+101del c.2400del (p.Gly802AlafsTer3) c.3528del (p.Gly1178AlafsTer3) c.443del c.3708del (p.Gly1238AlafsTer3) c.3375del (p.Gly1127AlafsTer3) | |
| 7 | g.117627671A>C | CA457231428 | CFTR | c.3517+101A>C (n.3517+101A>C) c.*3332A>C (n.*3332A>C) c.3435A>C (p.Ser1145=) c.3618A>C (p.Ser1206=) c.*271A>C (n.*271A>C) c.*279A>C (n.*279A>C) c.*1993A>C (n.*1993A>C) c.3612A>C (p.Ser1204=) c.*3442A>C (n.*3442A>C) c.3192A>C (p.Ser1064=) c.366A>C (p.Ser122=) c.1405A>C (n.1405A>C) c.200A>C c.1167+101A>C c.2400A>C (p.Ser800=) c.3528A>C (p.Ser1176=) c.443A>C c.3708A>C (p.Ser1236=) c.3375A>C (p.Ser1125=) | |
| 7 | g.117627671A>G | CA457231426 | CFTR | c.3517+101A>G (n.3517+101A>G) c.*3332A>G (n.*3332A>G) c.3435A>G (p.Ser1145=) c.3618A>G (p.Ser1206=) c.*271A>G (n.*271A>G) c.*279A>G (n.*279A>G) c.*1993A>G (n.*1993A>G) c.3612A>G (p.Ser1204=) c.*3442A>G (n.*3442A>G) c.3192A>G (p.Ser1064=) c.366A>G (p.Ser122=) c.1405A>G (n.1405A>G) c.200A>G c.1167+101A>G c.2400A>G (p.Ser800=) c.3528A>G (p.Ser1176=) c.443A>G c.3708A>G (p.Ser1236=) c.3375A>G (p.Ser1125=) | gnomAD v4 |
| 7 | g.117627671A>T | CA457231427 | CFTR | c.3517+101A>T (n.3517+101A>T) c.*3332A>T (n.*3332A>T) c.3435A>T (p.Ser1145=) c.3618A>T (p.Ser1206=) c.*271A>T (n.*271A>T) c.*279A>T (n.*279A>T) c.*1993A>T (n.*1993A>T) c.3612A>T (p.Ser1204=) c.*3442A>T (n.*3442A>T) c.3192A>T (p.Ser1064=) c.366A>T (p.Ser122=) c.1405A>T (n.1405A>T) c.200A>T c.1167+101A>T c.2400A>T (p.Ser800=) c.3528A>T (p.Ser1176=) c.443A>T c.3708A>T (p.Ser1236=) c.3375A>T (p.Ser1125=) | ClinVar |
| 7 | g.117627671_117627672del | CA327243 | CFTR | c.3517+101_3517+102del (n.3517+101_3517+102del) c.*3332_*3333del (n.*3332_*3333del) c.3435_3436del (p.Gly1147ProfsTer?) c.3618_3619del (p.Gly1208ProfsTer?) c.*271_*272del (n.*271_*272del) c.*279_*280del (n.*279_*280del) c.*1993_*1994del (n.*1993_*1994del) c.3612_3613del (p.Gly1206ProfsTer?) c.*3442_*3443del (n.*3442_*3443del) c.3192_3193del (p.Gly1066ProfsTer?) c.366_367del (p.Gly124ProfsTer?) c.1405_1406del (n.1405_1406del) c.200_201del c.1167+101_1167+102del c.2400_2401del (p.Gly802ProfsTer?) c.3528_3529del (p.Gly1178ProfsTer?) c.443_444del c.3708_3709del (p.Gly1238ProfsTer?) c.3375_3376del (p.Gly1127ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627671_117627672delinsAG | CA1737398687 | CFTR | c.3517+101_3517+102delinsAG (n.3517+101_3517+102delinsAG) c.*3332_*3333delinsAG (n.*3332_*3333delinsAG) c.3435_3436delinsAG (p.Ser1145=) c.3618_3619delinsAG (p.Ser1206=) c.*271_*272delinsAG (n.*271_*272delinsAG) c.*279_*280delinsAG (n.*279_*280delinsAG) c.*1993_*1994delinsAG (n.*1993_*1994delinsAG) c.3612_3613delinsAG (p.Ser1204=) c.*3442_*3443delinsAG (n.*3442_*3443delinsAG) c.3192_3193delinsAG (p.Ser1064=) c.366_367delinsAG (p.Ser122=) c.1405_1406delinsAG (n.1405_1406delinsAG) c.200_201delinsAG c.1167+101_1167+102delinsAG c.2400_2401delinsAG (p.Ser800=) c.3528_3529delinsAG (p.Ser1176=) c.443_444delinsAG c.3708_3709delinsAG (p.Ser1236=) c.3375_3376delinsAG (p.Ser1125=) | |
| 7 | g.117627672G>A | CA368997210 | CFTR | c.3517+102G>A (n.3517+102G>A) c.*3333G>A (n.*3333G>A) c.3436G>A (p.Gly1146Arg) c.3619G>A (p.Gly1207Arg) c.*272G>A (n.*272G>A) c.*280G>A (n.*280G>A) c.*1994G>A (n.*1994G>A) c.3613G>A (p.Gly1205Arg) c.*3443G>A (n.*3443G>A) c.3193G>A (p.Gly1065Arg) c.367G>A (p.Gly123Arg) c.1406G>A (n.1406G>A) c.201G>A c.1167+102G>A c.2401G>A (p.Gly801Arg) c.3529G>A (p.Gly1177Arg) c.444G>A c.3709G>A (p.Gly1237Arg) c.3376G>A (p.Gly1126Arg) | |
| 7 | g.117627672G>C | CA368997207 | CFTR | c.3517+102G>C (n.3517+102G>C) c.*3333G>C (n.*3333G>C) c.3436G>C (p.Gly1146Arg) c.3619G>C (p.Gly1207Arg) c.*272G>C (n.*272G>C) c.*280G>C (n.*280G>C) c.*1994G>C (n.*1994G>C) c.3613G>C (p.Gly1205Arg) c.*3443G>C (n.*3443G>C) c.3193G>C (p.Gly1065Arg) c.367G>C (p.Gly123Arg) c.1406G>C (n.1406G>C) c.201G>C c.1167+102G>C c.2401G>C (p.Gly801Arg) c.3529G>C (p.Gly1177Arg) c.444G>C c.3709G>C (p.Gly1237Arg) c.3376G>C (p.Gly1126Arg) | |
| 7 | g.117627672G>T | CA368997213 | CFTR | c.3517+102G>T (n.3517+102G>T) c.*3333G>T (n.*3333G>T) c.3436G>T (p.Gly1146Trp) c.3619G>T (p.Gly1207Trp) c.*272G>T (n.*272G>T) c.*280G>T (n.*280G>T) c.*1994G>T (n.*1994G>T) c.3613G>T (p.Gly1205Trp) c.*3443G>T (n.*3443G>T) c.3193G>T (p.Gly1065Trp) c.367G>T (p.Gly123Trp) c.1406G>T (n.1406G>T) c.201G>T c.1167+102G>T c.2401G>T (p.Gly801Trp) c.3529G>T (p.Gly1177Trp) c.444G>T c.3709G>T (p.Gly1237Trp) c.3376G>T (p.Gly1126Trp) | |
| 7 | g.117627676dup | CA577223239 | CFTR | c.3517+106dup (n.3517+106dup) c.*3337dup (n.*3337dup) c.3440dup (p.Gln1148ProfsTer?) c.3623dup (p.Gln1209ProfsTer?) c.*276dup (n.*276dup) c.*284dup (n.*284dup) c.*1998dup (n.*1998dup) c.3617dup (p.Gln1207ProfsTer?) c.*3447dup (n.*3447dup) c.3197dup (p.Gln1067ProfsTer?) c.371dup (p.Gln125ProfsTer?) c.1410dup (n.1410dup) c.205dup c.1167+106dup c.2405dup (p.Gln803ProfsTer?) c.3533dup (p.Gln1179ProfsTer?) c.448dup c.3713dup (p.Gln1239ProfsTer?) c.3380dup (p.Gln1128ProfsTer?) | dbSNP gnomAD v2 |
| 7 | g.117627676del | CA327244 | CFTR | c.3517+106del (n.3517+106del) c.*3337del (n.*3337del) c.3440del (p.Gly1147AlafsTer3) c.3623del (p.Gly1208AlafsTer3) c.*276del (n.*276del) c.*284del (n.*284del) c.*1998del (n.*1998del) c.3617del (p.Gly1206AlafsTer3) c.*3447del (n.*3447del) c.3197del (p.Gly1066AlafsTer3) c.371del (p.Gly124AlafsTer3) c.1410del (n.1410del) c.205del c.1167+106del c.2405del (p.Gly802AlafsTer3) c.3533del (p.Gly1178AlafsTer3) c.448del c.3713del (p.Gly1238AlafsTer3) c.3380del (p.Gly1127AlafsTer3) | ClinVar dbSNP |
| 7 | g.117627673G>A | CA368997216 | CFTR | c.3517+103G>A (n.3517+103G>A) c.*3334G>A (n.*3334G>A) c.3437G>A (p.Gly1146Glu) c.3620G>A (p.Gly1207Glu) c.*273G>A (n.*273G>A) c.*281G>A (n.*281G>A) c.*1995G>A (n.*1995G>A) c.3614G>A (p.Gly1205Glu) c.*3444G>A (n.*3444G>A) c.3194G>A (p.Gly1065Glu) c.368G>A (p.Gly123Glu) c.1407G>A (n.1407G>A) c.202G>A c.1167+103G>A c.2402G>A (p.Gly801Glu) c.3530G>A (p.Gly1177Glu) c.445G>A c.3710G>A (p.Gly1237Glu) c.3377G>A (p.Gly1126Glu) | COSMIC |
| 7 | g.117627673G>C | CA368997215 | CFTR | c.3517+103G>C (n.3517+103G>C) c.*3334G>C (n.*3334G>C) c.3437G>C (p.Gly1146Ala) c.3620G>C (p.Gly1207Ala) c.*273G>C (n.*273G>C) c.*281G>C (n.*281G>C) c.*1995G>C (n.*1995G>C) c.3614G>C (p.Gly1205Ala) c.*3444G>C (n.*3444G>C) c.3194G>C (p.Gly1065Ala) c.368G>C (p.Gly123Ala) c.1407G>C (n.1407G>C) c.202G>C c.1167+103G>C c.2402G>C (p.Gly801Ala) c.3530G>C (p.Gly1177Ala) c.445G>C c.3710G>C (p.Gly1237Ala) c.3377G>C (p.Gly1126Ala) | gnomAD v4 |
| 7 | g.117627673G>T | CA368997218 | CFTR | c.3517+103G>T (n.3517+103G>T) c.*3334G>T (n.*3334G>T) c.3437G>T (p.Gly1146Val) c.3620G>T (p.Gly1207Val) c.*273G>T (n.*273G>T) c.*281G>T (n.*281G>T) c.*1995G>T (n.*1995G>T) c.3614G>T (p.Gly1205Val) c.*3444G>T (n.*3444G>T) c.3194G>T (p.Gly1065Val) c.368G>T (p.Gly123Val) c.1407G>T (n.1407G>T) c.202G>T c.1167+103G>T c.2402G>T (p.Gly801Val) c.3530G>T (p.Gly1177Val) c.445G>T c.3710G>T (p.Gly1237Val) c.3377G>T (p.Gly1126Val) | |
| 7 | g.117627674G>A | CA457231429 | CFTR | c.3517+104G>A (n.3517+104G>A) c.*3335G>A (n.*3335G>A) c.3438G>A (p.Gly1146=) c.3621G>A (p.Gly1207=) c.*274G>A (n.*274G>A) c.*282G>A (n.*282G>A) c.*1996G>A (n.*1996G>A) c.3615G>A (p.Gly1205=) c.*3445G>A (n.*3445G>A) c.3195G>A (p.Gly1065=) c.369G>A (p.Gly123=) c.1408G>A (n.1408G>A) c.203G>A c.1167+104G>A c.2403G>A (p.Gly801=) c.3531G>A (p.Gly1177=) c.446G>A c.3711G>A (p.Gly1237=) c.3378G>A (p.Gly1126=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627674G>C | CA457231430 | CFTR | c.3517+104G>C (n.3517+104G>C) c.*3335G>C (n.*3335G>C) c.3438G>C (p.Gly1146=) c.3621G>C (p.Gly1207=) c.*274G>C (n.*274G>C) c.*282G>C (n.*282G>C) c.*1996G>C (n.*1996G>C) c.3615G>C (p.Gly1205=) c.*3445G>C (n.*3445G>C) c.3195G>C (p.Gly1065=) c.369G>C (p.Gly123=) c.1408G>C (n.1408G>C) c.203G>C c.1167+104G>C c.2403G>C (p.Gly801=) c.3531G>C (p.Gly1177=) c.446G>C c.3711G>C (p.Gly1237=) c.3378G>C (p.Gly1126=) | |
| 7 | g.117627674G= | CA1737398688 | CFTR | c.3517+104G= (n.3517+104G=) c.*3335G= (n.*3335G=) c.3438G= (p.Gly1146=) c.3621G= (p.Gly1207=) c.*274G= (n.*274G=) c.*282G= (n.*282G=) c.*1996G= (n.*1996G=) c.3615G= (p.Gly1205=) c.*3445G= (n.*3445G=) c.3195G= (p.Gly1065=) c.369G= (p.Gly123=) c.1408G= (n.1408G=) c.203G= c.1167+104G= c.2403G= (p.Gly801=) c.3531G= (p.Gly1177=) c.446G= c.3711G= (p.Gly1237=) c.3378G= (p.Gly1126=) | |
| 7 | g.117627674G>T | CA457231431 | CFTR | c.3517+104G>T (n.3517+104G>T) c.*3335G>T (n.*3335G>T) c.3438G>T (p.Gly1146=) c.3621G>T (p.Gly1207=) c.*274G>T (n.*274G>T) c.*282G>T (n.*282G>T) c.*1996G>T (n.*1996G>T) c.3615G>T (p.Gly1205=) c.*3445G>T (n.*3445G>T) c.3195G>T (p.Gly1065=) c.369G>T (p.Gly123=) c.1408G>T (n.1408G>T) c.203G>T c.1167+104G>T c.2403G>T (p.Gly801=) c.3531G>T (p.Gly1177=) c.446G>T c.3711G>T (p.Gly1237=) c.3378G>T (p.Gly1126=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627675G>A | CA368997220 | CFTR | c.3517+105G>A (n.3517+105G>A) c.*3336G>A (n.*3336G>A) c.3439G>A (p.Gly1147Ser) c.3622G>A (p.Gly1208Ser) c.*275G>A (n.*275G>A) c.*283G>A (n.*283G>A) c.*1997G>A (n.*1997G>A) c.3616G>A (p.Gly1206Ser) c.*3446G>A (n.*3446G>A) c.3196G>A (p.Gly1066Ser) c.370G>A (p.Gly124Ser) c.1409G>A (n.1409G>A) c.204G>A c.1167+105G>A c.2404G>A (p.Gly802Ser) c.3532G>A (p.Gly1178Ser) c.447G>A c.3712G>A (p.Gly1238Ser) c.3379G>A (p.Gly1127Ser) | |
| 7 | g.117627675G>C | CA368997221 | CFTR | c.3517+105G>C (n.3517+105G>C) c.*3336G>C (n.*3336G>C) c.3439G>C (p.Gly1147Arg) c.3622G>C (p.Gly1208Arg) c.*275G>C (n.*275G>C) c.*283G>C (n.*283G>C) c.*1997G>C (n.*1997G>C) c.3616G>C (p.Gly1206Arg) c.*3446G>C (n.*3446G>C) c.3196G>C (p.Gly1066Arg) c.370G>C (p.Gly124Arg) c.1409G>C (n.1409G>C) c.204G>C c.1167+105G>C c.2404G>C (p.Gly802Arg) c.3532G>C (p.Gly1178Arg) c.447G>C c.3712G>C (p.Gly1238Arg) c.3379G>C (p.Gly1127Arg) | |
| 7 | g.117627675G>T | CA368997223 | CFTR | c.3517+105G>T (n.3517+105G>T) c.*3336G>T (n.*3336G>T) c.3439G>T (p.Gly1147Cys) c.3622G>T (p.Gly1208Cys) c.*275G>T (n.*275G>T) c.*283G>T (n.*283G>T) c.*1997G>T (n.*1997G>T) c.3616G>T (p.Gly1206Cys) c.*3446G>T (n.*3446G>T) c.3196G>T (p.Gly1066Cys) c.370G>T (p.Gly124Cys) c.1409G>T (n.1409G>T) c.204G>T c.1167+105G>T c.2404G>T (p.Gly802Cys) c.3532G>T (p.Gly1178Cys) c.447G>T c.3712G>T (p.Gly1238Cys) c.3379G>T (p.Gly1127Cys) | |
| 7 | g.117627675_117627676delinsT | CA2580076353 | CFTR | c.3517+105_3517+106delinsT (n.3517+105_3517+106delinsT) c.*3336_*3337delinsT (n.*3336_*3337delinsT) c.3439_3440delinsT (p.Gly1147SerfsTer3) c.3622_3623delinsT (p.Gly1208SerfsTer3) c.*275_*276delinsT (n.*275_*276delinsT) c.*283_*284delinsT (n.*283_*284delinsT) c.*1997_*1998delinsT (n.*1997_*1998delinsT) c.3616_3617delinsT (p.Gly1206SerfsTer3) c.*3446_*3447delinsT (n.*3446_*3447delinsT) c.3196_3197delinsT (p.Gly1066SerfsTer3) c.370_371delinsT (p.Gly124SerfsTer3) c.1409_1410delinsT (n.1409_1410delinsT) c.204_205delinsT c.1167+105_1167+106delinsT c.2404_2405delinsT (p.Gly802SerfsTer3) c.3532_3533delinsT (p.Gly1178SerfsTer3) c.447_448delinsT c.3712_3713delinsT (p.Gly1238SerfsTer3) c.3379_3380delinsT (p.Gly1127SerfsTer3) | ClinVar |