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=) | ClinVar 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?) | ClinVar 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 |
7 | g.117627676G>A | CA4451508 | CFTR | c.3517+106G>A (n.3517+106G>A) c.*3337G>A (n.*3337G>A) c.3440G>A (p.Gly1147Asp) c.3623G>A (p.Gly1208Asp) c.*276G>A (n.*276G>A) c.*284G>A (n.*284G>A) c.*1998G>A (n.*1998G>A) c.3617G>A (p.Gly1206Asp) c.*3447G>A (n.*3447G>A) c.3197G>A (p.Gly1066Asp) c.371G>A (p.Gly124Asp) c.1410G>A (n.1410G>A) c.205G>A c.1167+106G>A c.2405G>A (p.Gly802Asp) c.3533G>A (p.Gly1178Asp) c.448G>A c.3713G>A (p.Gly1238Asp) c.3380G>A (p.Gly1127Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627676G>C | CA368997227 | CFTR | c.3517+106G>C (n.3517+106G>C) c.*3337G>C (n.*3337G>C) c.3440G>C (p.Gly1147Ala) c.3623G>C (p.Gly1208Ala) c.*276G>C (n.*276G>C) c.*284G>C (n.*284G>C) c.*1998G>C (n.*1998G>C) c.3617G>C (p.Gly1206Ala) c.*3447G>C (n.*3447G>C) c.3197G>C (p.Gly1066Ala) c.371G>C (p.Gly124Ala) c.1410G>C (n.1410G>C) c.205G>C c.1167+106G>C c.2405G>C (p.Gly802Ala) c.3533G>C (p.Gly1178Ala) c.448G>C c.3713G>C (p.Gly1238Ala) c.3380G>C (p.Gly1127Ala) | ClinVar |
7 | g.117627676G= | CA1737398689 | CFTR | c.3517+106G= (n.3517+106G=) c.*3337G= (n.*3337G=) c.3440G= (p.Gly1147=) c.3623G= (p.Gly1208=) c.*276G= (n.*276G=) c.*284G= (n.*284G=) c.*1998G= (n.*1998G=) c.3617G= (p.Gly1206=) c.*3447G= (n.*3447G=) c.3197G= (p.Gly1066=) c.371G= (p.Gly124=) c.1410G= (n.1410G=) c.205G= c.1167+106G= c.2405G= (p.Gly802=) c.3533G= (p.Gly1178=) c.448G= c.3713G= (p.Gly1238=) c.3380G= (p.Gly1127=) | |
7 | g.117627676G>T | CA368997228 | CFTR | c.3517+106G>T (n.3517+106G>T) c.*3337G>T (n.*3337G>T) c.3440G>T (p.Gly1147Val) c.3623G>T (p.Gly1208Val) c.*276G>T (n.*276G>T) c.*284G>T (n.*284G>T) c.*1998G>T (n.*1998G>T) c.3617G>T (p.Gly1206Val) c.*3447G>T (n.*3447G>T) c.3197G>T (p.Gly1066Val) c.371G>T (p.Gly124Val) c.1410G>T (n.1410G>T) c.205G>T c.1167+106G>T c.2405G>T (p.Gly802Val) c.3533G>T (p.Gly1178Val) c.448G>T c.3713G>T (p.Gly1238Val) c.3380G>T (p.Gly1127Val) | |
7 | g.117627677C>A | CA457231432 | CFTR | c.3517+107C>A (n.3517+107C>A) c.*3338C>A (n.*3338C>A) c.3441C>A (p.Gly1147=) c.3624C>A (p.Gly1208=) c.*277C>A (n.*277C>A) c.*285C>A (n.*285C>A) c.*1999C>A (n.*1999C>A) c.3618C>A (p.Gly1206=) c.*3448C>A (n.*3448C>A) c.3198C>A (p.Gly1066=) c.372C>A (p.Gly124=) c.1411C>A (n.1411C>A) c.206C>A c.1167+107C>A c.2406C>A (p.Gly802=) c.3534C>A (p.Gly1178=) c.449C>A c.3714C>A (p.Gly1238=) c.3381C>A (p.Gly1127=) | |
7 | g.117627677C>G | CA457231433 | CFTR | c.3517+107C>G (n.3517+107C>G) c.*3338C>G (n.*3338C>G) c.3441C>G (p.Gly1147=) c.3624C>G (p.Gly1208=) c.*277C>G (n.*277C>G) c.*285C>G (n.*285C>G) c.*1999C>G (n.*1999C>G) c.3618C>G (p.Gly1206=) c.*3448C>G (n.*3448C>G) c.3198C>G (p.Gly1066=) c.372C>G (p.Gly124=) c.1411C>G (n.1411C>G) c.206C>G c.1167+107C>G c.2406C>G (p.Gly802=) c.3534C>G (p.Gly1178=) c.449C>G c.3714C>G (p.Gly1238=) c.3381C>G (p.Gly1127=) | |
7 | g.117627677C>T | CA457231434 | CFTR | c.3517+107C>T (n.3517+107C>T) c.*3338C>T (n.*3338C>T) c.3441C>T (p.Gly1147=) c.3624C>T (p.Gly1208=) c.*277C>T (n.*277C>T) c.*285C>T (n.*285C>T) c.*1999C>T (n.*1999C>T) c.3618C>T (p.Gly1206=) c.*3448C>T (n.*3448C>T) c.3198C>T (p.Gly1066=) c.372C>T (p.Gly124=) c.1411C>T (n.1411C>T) c.206C>T c.1167+107C>T c.2406C>T (p.Gly802=) c.3534C>T (p.Gly1178=) c.449C>T c.3714C>T (p.Gly1238=) c.3381C>T (p.Gly1127=) | |
7 | g.117627678C>A | CA368997231 | CFTR | c.3517+108C>A (n.3517+108C>A) c.*3339C>A (n.*3339C>A) c.3442C>A (p.Gln1148Lys) c.3625C>A (p.Gln1209Lys) c.*278C>A (n.*278C>A) c.*286C>A (n.*286C>A) c.*2000C>A (n.*2000C>A) c.3619C>A (p.Gln1207Lys) c.*3449C>A (n.*3449C>A) c.3199C>A (p.Gln1067Lys) c.373C>A (p.Gln125Lys) c.1412C>A (n.1412C>A) c.207C>A c.1167+108C>A c.2407C>A (p.Gln803Lys) c.3535C>A (p.Gln1179Lys) c.450C>A c.3715C>A (p.Gln1239Lys) c.3382C>A (p.Gln1128Lys) | ClinVar dbSNP |
7 | g.117627678C= | CA1737398690 | CFTR | c.3517+108C= (n.3517+108C=) c.*3339C= (n.*3339C=) c.3442C= (p.Gln1148=) c.3625C= (p.Gln1209=) c.*278C= (n.*278C=) c.*286C= (n.*286C=) c.*2000C= (n.*2000C=) c.3619C= (p.Gln1207=) c.*3449C= (n.*3449C=) c.3199C= (p.Gln1067=) c.373C= (p.Gln125=) c.1412C= (n.1412C=) c.207C= c.1167+108C= c.2407C= (p.Gln803=) c.3535C= (p.Gln1179=) c.450C= c.3715C= (p.Gln1239=) c.3382C= (p.Gln1128=) | |
7 | g.117627678C>G | CA368997233 | CFTR | c.3517+108C>G (n.3517+108C>G) c.*3339C>G (n.*3339C>G) c.3442C>G (p.Gln1148Glu) c.3625C>G (p.Gln1209Glu) c.*278C>G (n.*278C>G) c.*286C>G (n.*286C>G) c.*2000C>G (n.*2000C>G) c.3619C>G (p.Gln1207Glu) c.*3449C>G (n.*3449C>G) c.3199C>G (p.Gln1067Glu) c.373C>G (p.Gln125Glu) c.1412C>G (n.1412C>G) c.207C>G c.1167+108C>G c.2407C>G (p.Gln803Glu) c.3535C>G (p.Gln1179Glu) c.450C>G c.3715C>G (p.Gln1239Glu) c.3382C>G (p.Gln1128Glu) | gnomAD v4 |
7 | g.117627678C>T | CA368997234 | CFTR | c.3517+108C>T (n.3517+108C>T) c.*3339C>T (n.*3339C>T) c.3442C>T (p.Gln1148Ter) c.3625C>T (p.Gln1209Ter) c.*278C>T (n.*278C>T) c.*286C>T (n.*286C>T) c.*2000C>T (n.*2000C>T) c.3619C>T (p.Gln1207Ter) c.*3449C>T (n.*3449C>T) c.3199C>T (p.Gln1067Ter) c.373C>T (p.Gln125Ter) c.1412C>T (n.1412C>T) c.207C>T c.1167+108C>T c.2407C>T (p.Gln803Ter) c.3535C>T (p.Gln1179Ter) c.450C>T c.3715C>T (p.Gln1239Ter) c.3382C>T (p.Gln1128Ter) | |
7 | g.117627679A>C | CA368997236 | CFTR | c.3517+109A>C (n.3517+109A>C) c.*3340A>C (n.*3340A>C) c.3443A>C (p.Gln1148Pro) c.3626A>C (p.Gln1209Pro) c.*279A>C (n.*279A>C) c.*287A>C (n.*287A>C) c.*2001A>C (n.*2001A>C) c.3620A>C (p.Gln1207Pro) c.*3450A>C (n.*3450A>C) c.3200A>C (p.Gln1067Pro) c.374A>C (p.Gln125Pro) c.1413A>C (n.1413A>C) c.208A>C c.1167+109A>C c.2408A>C (p.Gln803Pro) c.3536A>C (p.Gln1179Pro) c.451A>C c.3716A>C (p.Gln1239Pro) c.3383A>C (p.Gln1128Pro) | |
7 | g.117627679A>G | CA368997238 | CFTR | c.3517+109A>G (n.3517+109A>G) c.*3340A>G (n.*3340A>G) c.3443A>G (p.Gln1148Arg) c.3626A>G (p.Gln1209Arg) c.*279A>G (n.*279A>G) c.*287A>G (n.*287A>G) c.*2001A>G (n.*2001A>G) c.3620A>G (p.Gln1207Arg) c.*3450A>G (n.*3450A>G) c.3200A>G (p.Gln1067Arg) c.374A>G (p.Gln125Arg) c.1413A>G (n.1413A>G) c.208A>G c.1167+109A>G c.2408A>G (p.Gln803Arg) c.3536A>G (p.Gln1179Arg) c.451A>G c.3716A>G (p.Gln1239Arg) c.3383A>G (p.Gln1128Arg) | |
7 | g.117627679A>T | CA368997240 | CFTR | c.3517+109A>T (n.3517+109A>T) c.*3340A>T (n.*3340A>T) c.3443A>T (p.Gln1148Leu) c.3626A>T (p.Gln1209Leu) c.*279A>T (n.*279A>T) c.*287A>T (n.*287A>T) c.*2001A>T (n.*2001A>T) c.3620A>T (p.Gln1207Leu) c.*3450A>T (n.*3450A>T) c.3200A>T (p.Gln1067Leu) c.374A>T (p.Gln125Leu) c.1413A>T (n.1413A>T) c.208A>T c.1167+109A>T c.2408A>T (p.Gln803Leu) c.3536A>T (p.Gln1179Leu) c.451A>T c.3716A>T (p.Gln1239Leu) c.3383A>T (p.Gln1128Leu) | |
7 | g.117627680A= | CA1737398691 | CFTR | c.3517+110A= (n.3517+110A=) c.*3341A= (n.*3341A=) c.3444A= (p.Gln1148=) c.3627A= (p.Gln1209=) c.*280A= (n.*280A=) c.*288A= (n.*288A=) c.*2002A= (n.*2002A=) c.3621A= (p.Gln1207=) c.*3451A= (n.*3451A=) c.3201A= (p.Gln1067=) c.375A= (p.Gln125=) c.1414A= (n.1414A=) c.209A= c.1167+110A= c.2409A= (p.Gln803=) c.3537A= (p.Gln1179=) c.452A= c.3717A= (p.Gln1239=) c.3384A= (p.Gln1128=) | |
7 | g.117627680A>C | CA368997243 | CFTR | c.3517+110A>C (n.3517+110A>C) c.*3341A>C (n.*3341A>C) c.3444A>C (p.Gln1148His) c.3627A>C (p.Gln1209His) c.*280A>C (n.*280A>C) c.*288A>C (n.*288A>C) c.*2002A>C (n.*2002A>C) c.3621A>C (p.Gln1207His) c.*3451A>C (n.*3451A>C) c.3201A>C (p.Gln1067His) c.375A>C (p.Gln125His) c.1414A>C (n.1414A>C) c.209A>C c.1167+110A>C c.2409A>C (p.Gln803His) c.3537A>C (p.Gln1179His) c.452A>C c.3717A>C (p.Gln1239His) c.3384A>C (p.Gln1128His) | |
7 | g.117627680A>G | CA4451509 | CFTR | c.3517+110A>G (n.3517+110A>G) c.*3341A>G (n.*3341A>G) c.3444A>G (p.Gln1148=) c.3627A>G (p.Gln1209=) c.*280A>G (n.*280A>G) c.*288A>G (n.*288A>G) c.*2002A>G (n.*2002A>G) c.3621A>G (p.Gln1207=) c.*3451A>G (n.*3451A>G) c.3201A>G (p.Gln1067=) c.375A>G (p.Gln125=) c.1414A>G (n.1414A>G) c.209A>G c.1167+110A>G c.2409A>G (p.Gln803=) c.3537A>G (p.Gln1179=) c.452A>G c.3717A>G (p.Gln1239=) c.3384A>G (p.Gln1128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627680A>T | CA368997245 | CFTR | c.3517+110A>T (n.3517+110A>T) c.*3341A>T (n.*3341A>T) c.3444A>T (p.Gln1148His) c.3627A>T (p.Gln1209His) c.*280A>T (n.*280A>T) c.*288A>T (n.*288A>T) c.*2002A>T (n.*2002A>T) c.3621A>T (p.Gln1207His) c.*3451A>T (n.*3451A>T) c.3201A>T (p.Gln1067His) c.375A>T (p.Gln125His) c.1414A>T (n.1414A>T) c.209A>T c.1167+110A>T c.2409A>T (p.Gln803His) c.3537A>T (p.Gln1179His) c.452A>T c.3717A>T (p.Gln1239His) c.3384A>T (p.Gln1128His) | |
7 | g.117627681A= | CA1737398692 | CFTR | c.3517+111A= (n.3517+111A=) c.*3342A= (n.*3342A=) c.3445A= (p.Met1149=) c.3628A= (p.Met1210=) c.*281A= (n.*281A=) c.*289A= (n.*289A=) c.*2003A= (n.*2003A=) c.3622A= (p.Met1208=) c.*3452A= (n.*3452A=) c.3202A= (p.Met1068=) c.376A= (p.Met126=) c.1415A= (n.1415A=) c.210A= c.1167+111A= c.2410A= (p.Met804=) c.3538A= (p.Met1180=) c.453A= c.3718A= (p.Met1240=) c.3385A= (p.Met1129=) | |
7 | g.117627681A>C | CA4451510 | CFTR | c.3517+111A>C (n.3517+111A>C) c.*3342A>C (n.*3342A>C) c.3445A>C (p.Met1149Leu) c.3628A>C (p.Met1210Leu) c.*281A>C (n.*281A>C) c.*289A>C (n.*289A>C) c.*2003A>C (n.*2003A>C) c.3622A>C (p.Met1208Leu) c.*3452A>C (n.*3452A>C) c.3202A>C (p.Met1068Leu) c.376A>C (p.Met126Leu) c.1415A>C (n.1415A>C) c.210A>C c.1167+111A>C c.2410A>C (p.Met804Leu) c.3538A>C (p.Met1180Leu) c.453A>C c.3718A>C (p.Met1240Leu) c.3385A>C (p.Met1129Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627681A>G | CA164976676 | CFTR | c.3517+111A>G (n.3517+111A>G) c.*3342A>G (n.*3342A>G) c.3445A>G (p.Met1149Val) c.3628A>G (p.Met1210Val) c.*281A>G (n.*281A>G) c.*289A>G (n.*289A>G) c.*2003A>G (n.*2003A>G) c.3622A>G (p.Met1208Val) c.*3452A>G (n.*3452A>G) c.3202A>G (p.Met1068Val) c.376A>G (p.Met126Val) c.1415A>G (n.1415A>G) c.210A>G c.1167+111A>G c.2410A>G (p.Met804Val) c.3538A>G (p.Met1180Val) c.453A>G c.3718A>G (p.Met1240Val) c.3385A>G (p.Met1129Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627681A>T | CA368997250 | CFTR | c.3517+111A>T (n.3517+111A>T) c.*3342A>T (n.*3342A>T) c.3445A>T (p.Met1149Leu) c.3628A>T (p.Met1210Leu) c.*281A>T (n.*281A>T) c.*289A>T (n.*289A>T) c.*2003A>T (n.*2003A>T) c.3622A>T (p.Met1208Leu) c.*3452A>T (n.*3452A>T) c.3202A>T (p.Met1068Leu) c.376A>T (p.Met126Leu) c.1415A>T (n.1415A>T) c.210A>T c.1167+111A>T c.2410A>T (p.Met804Leu) c.3538A>T (p.Met1180Leu) c.453A>T c.3718A>T (p.Met1240Leu) c.3385A>T (p.Met1129Leu) | ClinVar gnomAD v4 |
7 | g.117627682T>A | CA327245 | CFTR | c.3517+112T>A (n.3517+112T>A) c.*3343T>A (n.*3343T>A) c.3446T>A (p.Met1149Lys) c.3629T>A (p.Met1210Lys) c.*282T>A (n.*282T>A) c.*290T>A (n.*290T>A) c.*2004T>A (n.*2004T>A) c.3623T>A (p.Met1208Lys) c.*3453T>A (n.*3453T>A) c.3203T>A (p.Met1068Lys) c.377T>A (p.Met126Lys) c.1416T>A (n.1416T>A) c.211T>A c.1167+112T>A c.2411T>A (p.Met804Lys) c.3539T>A (p.Met1180Lys) c.454T>A c.3719T>A (p.Met1240Lys) c.3386T>A (p.Met1129Lys) | dbSNP |
7 | g.117627682T>C | CA368997253 | CFTR | c.3517+112T>C (n.3517+112T>C) c.*3343T>C (n.*3343T>C) c.3446T>C (p.Met1149Thr) c.3629T>C (p.Met1210Thr) c.*282T>C (n.*282T>C) c.*290T>C (n.*290T>C) c.*2004T>C (n.*2004T>C) c.3623T>C (p.Met1208Thr) c.*3453T>C (n.*3453T>C) c.3203T>C (p.Met1068Thr) c.377T>C (p.Met126Thr) c.1416T>C (n.1416T>C) c.211T>C c.1167+112T>C c.2411T>C (p.Met804Thr) c.3539T>C (p.Met1180Thr) c.454T>C c.3719T>C (p.Met1240Thr) c.3386T>C (p.Met1129Thr) | |
7 | g.117627682T>G | CA368997255 | CFTR | c.3517+112T>G (n.3517+112T>G) c.*3343T>G (n.*3343T>G) c.3446T>G (p.Met1149Arg) c.3629T>G (p.Met1210Arg) c.*282T>G (n.*282T>G) c.*290T>G (n.*290T>G) c.*2004T>G (n.*2004T>G) c.3623T>G (p.Met1208Arg) c.*3453T>G (n.*3453T>G) c.3203T>G (p.Met1068Arg) c.377T>G (p.Met126Arg) c.1416T>G (n.1416T>G) c.211T>G c.1167+112T>G c.2411T>G (p.Met804Arg) c.3539T>G (p.Met1180Arg) c.454T>G c.3719T>G (p.Met1240Arg) c.3386T>G (p.Met1129Arg) | |
7 | g.117627682T= | CA1737398693 | CFTR | c.3517+112T= (n.3517+112T=) c.*3343T= (n.*3343T=) c.3446T= (p.Met1149=) c.3629T= (p.Met1210=) c.*282T= (n.*282T=) c.*290T= (n.*290T=) c.*2004T= (n.*2004T=) c.3623T= (p.Met1208=) c.*3453T= (n.*3453T=) c.3203T= (p.Met1068=) c.377T= (p.Met126=) c.1416T= (n.1416T=) c.211T= c.1167+112T= c.2411T= (p.Met804=) c.3539T= (p.Met1180=) c.454T= c.3719T= (p.Met1240=) c.3386T= (p.Met1129=) | |
7 | g.117627683G>A | CA368997257 | CFTR | c.3517+113G>A (n.3517+113G>A) c.*3344G>A (n.*3344G>A) c.3447G>A (p.Met1149Ile) c.3630G>A (p.Met1210Ile) c.*283G>A (n.*283G>A) c.*291G>A (n.*291G>A) c.*2005G>A (n.*2005G>A) c.3624G>A (p.Met1208Ile) c.*3454G>A (n.*3454G>A) c.3204G>A (p.Met1068Ile) c.378G>A (p.Met126Ile) c.1417G>A (n.1417G>A) c.212G>A c.1167+113G>A c.2412G>A (p.Met804Ile) c.3540G>A (p.Met1180Ile) c.455G>A c.3720G>A (p.Met1240Ile) c.3387G>A (p.Met1129Ile) | |
7 | g.117627683G>C | CA368997259 | CFTR | c.3517+113G>C (n.3517+113G>C) c.*3344G>C (n.*3344G>C) c.3447G>C (p.Met1149Ile) c.3630G>C (p.Met1210Ile) c.*283G>C (n.*283G>C) c.*291G>C (n.*291G>C) c.*2005G>C (n.*2005G>C) c.3624G>C (p.Met1208Ile) c.*3454G>C (n.*3454G>C) c.3204G>C (p.Met1068Ile) c.378G>C (p.Met126Ile) c.1417G>C (n.1417G>C) c.212G>C c.1167+113G>C c.2412G>C (p.Met804Ile) c.3540G>C (p.Met1180Ile) c.455G>C c.3720G>C (p.Met1240Ile) c.3387G>C (p.Met1129Ile) | |
7 | g.117627683G>T | CA368997261 | CFTR | c.3517+113G>T (n.3517+113G>T) c.*3344G>T (n.*3344G>T) c.3447G>T (p.Met1149Ile) c.3630G>T (p.Met1210Ile) c.*283G>T (n.*283G>T) c.*291G>T (n.*291G>T) c.*2005G>T (n.*2005G>T) c.3624G>T (p.Met1208Ile) c.*3454G>T (n.*3454G>T) c.3204G>T (p.Met1068Ile) c.378G>T (p.Met126Ile) c.1417G>T (n.1417G>T) c.212G>T c.1167+113G>T c.2412G>T (p.Met804Ile) c.3540G>T (p.Met1180Ile) c.455G>T c.3720G>T (p.Met1240Ile) c.3387G>T (p.Met1129Ile) | gnomAD v4 |
7 | g.117627684A>C | CA368997263 | CFTR | c.3517+114A>C (n.3517+114A>C) c.*3345A>C (n.*3345A>C) c.3448A>C (p.Thr1150Pro) c.3631A>C (p.Thr1211Pro) c.*284A>C (n.*284A>C) c.*292A>C (n.*292A>C) c.*2006A>C (n.*2006A>C) c.3625A>C (p.Thr1209Pro) c.*3455A>C (n.*3455A>C) c.3205A>C (p.Thr1069Pro) c.379A>C (p.Thr127Pro) c.1418A>C (n.1418A>C) c.213A>C c.1167+114A>C c.2413A>C (p.Thr805Pro) c.3541A>C (p.Thr1181Pro) c.456A>C c.3721A>C (p.Thr1241Pro) c.3388A>C (p.Thr1130Pro) | |
7 | g.117627684A>G | CA368997265 | CFTR | c.3517+114A>G (n.3517+114A>G) c.*3345A>G (n.*3345A>G) c.3448A>G (p.Thr1150Ala) c.3631A>G (p.Thr1211Ala) c.*284A>G (n.*284A>G) c.*292A>G (n.*292A>G) c.*2006A>G (n.*2006A>G) c.3625A>G (p.Thr1209Ala) c.*3455A>G (n.*3455A>G) c.3205A>G (p.Thr1069Ala) c.379A>G (p.Thr127Ala) c.1418A>G (n.1418A>G) c.213A>G c.1167+114A>G c.2413A>G (p.Thr805Ala) c.3541A>G (p.Thr1181Ala) c.456A>G c.3721A>G (p.Thr1241Ala) c.3388A>G (p.Thr1130Ala) | |
7 | g.117627684A>T | CA368997267 | CFTR | c.3517+114A>T (n.3517+114A>T) c.*3345A>T (n.*3345A>T) c.3448A>T (p.Thr1150Ser) c.3631A>T (p.Thr1211Ser) c.*284A>T (n.*284A>T) c.*292A>T (n.*292A>T) c.*2006A>T (n.*2006A>T) c.3625A>T (p.Thr1209Ser) c.*3455A>T (n.*3455A>T) c.3205A>T (p.Thr1069Ser) c.379A>T (p.Thr127Ser) c.1418A>T (n.1418A>T) c.213A>T c.1167+114A>T c.2413A>T (p.Thr805Ser) c.3541A>T (p.Thr1181Ser) c.456A>T c.3721A>T (p.Thr1241Ser) c.3388A>T (p.Thr1130Ser) | |
7 | g.117627685C>A | CA368997271 | CFTR | c.3517+115C>A (n.3517+115C>A) c.*3346C>A (n.*3346C>A) c.3449C>A (p.Thr1150Asn) c.3632C>A (p.Thr1211Asn) c.*285C>A (n.*285C>A) c.*293C>A (n.*293C>A) c.*2007C>A (n.*2007C>A) c.3626C>A (p.Thr1209Asn) c.*3456C>A (n.*3456C>A) c.3206C>A (p.Thr1069Asn) c.380C>A (p.Thr127Asn) c.1419C>A (n.1419C>A) c.214C>A c.1167+115C>A c.2414C>A (p.Thr805Asn) c.3542C>A (p.Thr1181Asn) c.457C>A c.3722C>A (p.Thr1241Asn) c.3389C>A (p.Thr1130Asn) | |
7 | g.117627685C>G | CA368997268 | CFTR | c.3517+115C>G (n.3517+115C>G) c.*3346C>G (n.*3346C>G) c.3449C>G (p.Thr1150Ser) c.3632C>G (p.Thr1211Ser) c.*285C>G (n.*285C>G) c.*293C>G (n.*293C>G) c.*2007C>G (n.*2007C>G) c.3626C>G (p.Thr1209Ser) c.*3456C>G (n.*3456C>G) c.3206C>G (p.Thr1069Ser) c.380C>G (p.Thr127Ser) c.1419C>G (n.1419C>G) c.214C>G c.1167+115C>G c.2414C>G (p.Thr805Ser) c.3542C>G (p.Thr1181Ser) c.457C>G c.3722C>G (p.Thr1241Ser) c.3389C>G (p.Thr1130Ser) | |
7 | g.117627685C>T | CA368997269 | CFTR | c.3517+115C>T (n.3517+115C>T) c.*3346C>T (n.*3346C>T) c.3449C>T (p.Thr1150Ile) c.3632C>T (p.Thr1211Ile) c.*285C>T (n.*285C>T) c.*293C>T (n.*293C>T) c.*2007C>T (n.*2007C>T) c.3626C>T (p.Thr1209Ile) c.*3456C>T (n.*3456C>T) c.3206C>T (p.Thr1069Ile) c.380C>T (p.Thr127Ile) c.1419C>T (n.1419C>T) c.214C>T c.1167+115C>T c.2414C>T (p.Thr805Ile) c.3542C>T (p.Thr1181Ile) c.457C>T c.3722C>T (p.Thr1241Ile) c.3389C>T (p.Thr1130Ile) | |
7 | g.117627686T>A | CA457231437 | CFTR | c.3517+116T>A (n.3517+116T>A) c.*3347T>A (n.*3347T>A) c.3450T>A (p.Thr1150=) c.3633T>A (p.Thr1211=) c.*286T>A (n.*286T>A) c.*294T>A (n.*294T>A) c.*2008T>A (n.*2008T>A) c.3627T>A (p.Thr1209=) c.*3457T>A (n.*3457T>A) c.3207T>A (p.Thr1069=) c.381T>A (p.Thr127=) c.1420T>A (n.1420T>A) c.215T>A c.1167+116T>A c.2415T>A (p.Thr805=) c.3543T>A (p.Thr1181=) c.458T>A c.3723T>A (p.Thr1241=) c.3390T>A (p.Thr1130=) | |
7 | g.117627686T>C | CA457231435 | CFTR | c.3517+116T>C (n.3517+116T>C) c.*3347T>C (n.*3347T>C) c.3450T>C (p.Thr1150=) c.3633T>C (p.Thr1211=) c.*286T>C (n.*286T>C) c.*294T>C (n.*294T>C) c.*2008T>C (n.*2008T>C) c.3627T>C (p.Thr1209=) c.*3457T>C (n.*3457T>C) c.3207T>C (p.Thr1069=) c.381T>C (p.Thr127=) c.1420T>C (n.1420T>C) c.215T>C c.1167+116T>C c.2415T>C (p.Thr805=) c.3543T>C (p.Thr1181=) c.458T>C c.3723T>C (p.Thr1241=) c.3390T>C (p.Thr1130=) | |
7 | g.117627686T>G | CA457231436 | CFTR | c.3517+116T>G (n.3517+116T>G) c.*3347T>G (n.*3347T>G) c.3450T>G (p.Thr1150=) c.3633T>G (p.Thr1211=) c.*286T>G (n.*286T>G) c.*294T>G (n.*294T>G) c.*2008T>G (n.*2008T>G) c.3627T>G (p.Thr1209=) c.*3457T>G (n.*3457T>G) c.3207T>G (p.Thr1069=) c.381T>G (p.Thr127=) c.1420T>G (n.1420T>G) c.215T>G c.1167+116T>G c.2415T>G (p.Thr805=) c.3543T>G (p.Thr1181=) c.458T>G c.3723T>G (p.Thr1241=) c.3390T>G (p.Thr1130=) | |
7 | g.117627687G>A | CA327247 | CFTR | c.3517+117G>A (n.3517+117G>A) c.*3348G>A (n.*3348G>A) c.3451G>A (p.Val1151Ile) c.3634G>A (p.Val1212Ile) c.*287G>A (n.*287G>A) c.*295G>A (n.*295G>A) c.*2009G>A (n.*2009G>A) c.3628G>A (p.Val1210Ile) c.*3458G>A (n.*3458G>A) c.3208G>A (p.Val1070Ile) c.382G>A (p.Val128Ile) c.1421G>A (n.1421G>A) c.216G>A c.1167+117G>A c.2416G>A (p.Val806Ile) c.3544G>A (p.Val1182Ile) c.459G>A c.3724G>A (p.Val1242Ile) c.3391G>A (p.Val1131Ile) | dbSNP |
7 | g.117627687G>C | CA368997274 | CFTR | c.3517+117G>C (n.3517+117G>C) c.*3348G>C (n.*3348G>C) c.3451G>C (p.Val1151Leu) c.3634G>C (p.Val1212Leu) c.*287G>C (n.*287G>C) c.*295G>C (n.*295G>C) c.*2009G>C (n.*2009G>C) c.3628G>C (p.Val1210Leu) c.*3458G>C (n.*3458G>C) c.3208G>C (p.Val1070Leu) c.382G>C (p.Val128Leu) c.1421G>C (n.1421G>C) c.216G>C c.1167+117G>C c.2416G>C (p.Val806Leu) c.3544G>C (p.Val1182Leu) c.459G>C c.3724G>C (p.Val1242Leu) c.3391G>C (p.Val1131Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627687G= | CA1737398694 | CFTR | c.3517+117G= (n.3517+117G=) c.*3348G= (n.*3348G=) c.3451G= (p.Val1151=) c.3634G= (p.Val1212=) c.*287G= (n.*287G=) c.*295G= (n.*295G=) c.*2009G= (n.*2009G=) c.3628G= (p.Val1210=) c.*3458G= (n.*3458G=) c.3208G= (p.Val1070=) c.382G= (p.Val128=) c.1421G= (n.1421G=) c.216G= c.1167+117G= c.2416G= (p.Val806=) c.3544G= (p.Val1182=) c.459G= c.3724G= (p.Val1242=) c.3391G= (p.Val1131=) | |
7 | g.117627687G>T | CA368997275 | CFTR | c.3517+117G>T (n.3517+117G>T) c.*3348G>T (n.*3348G>T) c.3451G>T (p.Val1151Phe) c.3634G>T (p.Val1212Phe) c.*287G>T (n.*287G>T) c.*295G>T (n.*295G>T) c.*2009G>T (n.*2009G>T) c.3628G>T (p.Val1210Phe) c.*3458G>T (n.*3458G>T) c.3208G>T (p.Val1070Phe) c.382G>T (p.Val128Phe) c.1421G>T (n.1421G>T) c.216G>T c.1167+117G>T c.2416G>T (p.Val806Phe) c.3544G>T (p.Val1182Phe) c.459G>T c.3724G>T (p.Val1242Phe) c.3391G>T (p.Val1131Phe) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627688del | CA2695208379 | CFTR | c.3517+118del (n.3517+118del) c.*3349del (n.*3349del) c.3452del (p.Val1151AlafsTer16) c.3635del (p.Val1212AlafsTer16) c.*288del (n.*288del) c.*296del (n.*296del) c.*2010del (n.*2010del) c.3629del (p.Val1210AlafsTer16) c.*3459del (n.*3459del) c.3209del (p.Val1070AlafsTer16) c.383del (p.Val128AlafsTer16) c.1422del (n.1422del) c.217del c.1167+118del c.2417del (p.Val806AlafsTer16) c.3545del (p.Val1182AlafsTer16) c.460del c.3725del (p.Val1242AlafsTer16) c.3392del (p.Val1131AlafsTer16) | |
7 | g.117627688T>A | CA368997277 | CFTR | c.3517+118T>A (n.3517+118T>A) c.*3349T>A (n.*3349T>A) c.3452T>A (p.Val1151Asp) c.3635T>A (p.Val1212Asp) c.*288T>A (n.*288T>A) c.*296T>A (n.*296T>A) c.*2010T>A (n.*2010T>A) c.3629T>A (p.Val1210Asp) c.*3459T>A (n.*3459T>A) c.3209T>A (p.Val1070Asp) c.383T>A (p.Val128Asp) c.1422T>A (n.1422T>A) c.217T>A c.1167+118T>A c.2417T>A (p.Val806Asp) c.3545T>A (p.Val1182Asp) c.460T>A c.3725T>A (p.Val1242Asp) c.3392T>A (p.Val1131Asp) | |
7 | g.117627688T>C | CA368997278 | CFTR | c.3517+118T>C (n.3517+118T>C) c.*3349T>C (n.*3349T>C) c.3452T>C (p.Val1151Ala) c.3635T>C (p.Val1212Ala) c.*288T>C (n.*288T>C) c.*296T>C (n.*296T>C) c.*2010T>C (n.*2010T>C) c.3629T>C (p.Val1210Ala) c.*3459T>C (n.*3459T>C) c.3209T>C (p.Val1070Ala) c.383T>C (p.Val128Ala) c.1422T>C (n.1422T>C) c.217T>C c.1167+118T>C c.2417T>C (p.Val806Ala) c.3545T>C (p.Val1182Ala) c.460T>C c.3725T>C (p.Val1242Ala) c.3392T>C (p.Val1131Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627688T>G | CA368997280 | CFTR | c.3517+118T>G (n.3517+118T>G) c.*3349T>G (n.*3349T>G) c.3452T>G (p.Val1151Gly) c.3635T>G (p.Val1212Gly) c.*288T>G (n.*288T>G) c.*296T>G (n.*296T>G) c.*2010T>G (n.*2010T>G) c.3629T>G (p.Val1210Gly) c.*3459T>G (n.*3459T>G) c.3209T>G (p.Val1070Gly) c.383T>G (p.Val128Gly) c.1422T>G (n.1422T>G) c.217T>G c.1167+118T>G c.2417T>G (p.Val806Gly) c.3545T>G (p.Val1182Gly) c.460T>G c.3725T>G (p.Val1242Gly) c.3392T>G (p.Val1131Gly) | |
7 | g.117627688T= | CA1737398695 | CFTR | c.3517+118T= (n.3517+118T=) c.*3349T= (n.*3349T=) c.3452T= (p.Val1151=) c.3635T= (p.Val1212=) c.*288T= (n.*288T=) c.*296T= (n.*296T=) c.*2010T= (n.*2010T=) c.3629T= (p.Val1210=) c.*3459T= (n.*3459T=) c.3209T= (p.Val1070=) c.383T= (p.Val128=) c.1422T= (n.1422T=) c.217T= c.1167+118T= c.2417T= (p.Val806=) c.3545T= (p.Val1182=) c.460T= c.3725T= (p.Val1242=) c.3392T= (p.Val1131=) | |
7 | g.117627689C>A | CA457231440 | CFTR | c.3517+119C>A (n.3517+119C>A) c.*3350C>A (n.*3350C>A) c.3453C>A (p.Val1151=) c.3636C>A (p.Val1212=) c.*289C>A (n.*289C>A) c.*297C>A (n.*297C>A) c.*2011C>A (n.*2011C>A) c.3630C>A (p.Val1210=) c.*3460C>A (n.*3460C>A) c.3210C>A (p.Val1070=) c.384C>A (p.Val128=) c.1423C>A (n.1423C>A) c.218C>A c.1167+119C>A c.2418C>A (p.Val806=) c.3546C>A (p.Val1182=) c.461C>A c.3726C>A (p.Val1242=) c.3393C>A (p.Val1131=) | |
7 | g.117627689C>G | CA457231439 | CFTR | c.3517+119C>G (n.3517+119C>G) c.*3350C>G (n.*3350C>G) c.3453C>G (p.Val1151=) c.3636C>G (p.Val1212=) c.*289C>G (n.*289C>G) c.*297C>G (n.*297C>G) c.*2011C>G (n.*2011C>G) c.3630C>G (p.Val1210=) c.*3460C>G (n.*3460C>G) c.3210C>G (p.Val1070=) c.384C>G (p.Val128=) c.1423C>G (n.1423C>G) c.218C>G c.1167+119C>G c.2418C>G (p.Val806=) c.3546C>G (p.Val1182=) c.461C>G c.3726C>G (p.Val1242=) c.3393C>G (p.Val1131=) | ClinVar |
7 | g.117627689C>T | CA457231438 | CFTR | c.3517+119C>T (n.3517+119C>T) c.*3350C>T (n.*3350C>T) c.3453C>T (p.Val1151=) c.3636C>T (p.Val1212=) c.*289C>T (n.*289C>T) c.*297C>T (n.*297C>T) c.*2011C>T (n.*2011C>T) c.3630C>T (p.Val1210=) c.*3460C>T (n.*3460C>T) c.3210C>T (p.Val1070=) c.384C>T (p.Val128=) c.1423C>T (n.1423C>T) c.218C>T c.1167+119C>T c.2418C>T (p.Val806=) c.3546C>T (p.Val1182=) c.461C>T c.3726C>T (p.Val1242=) c.3393C>T (p.Val1131=) | gnomAD v4 |
7 | g.117627690A= | CA1737398696 | CFTR | c.3517+120A= (n.3517+120A=) c.*3351A= (n.*3351A=) c.3454A= (p.Lys1152=) c.3637A= (p.Lys1213=) c.*290A= (n.*290A=) c.*298A= (n.*298A=) c.*2012A= (n.*2012A=) c.3631A= (p.Lys1211=) c.*3461A= (n.*3461A=) c.3211A= (p.Lys1071=) c.385A= (p.Lys129=) c.1424A= (n.1424A=) c.219A= c.1167+120A= c.2419A= (p.Lys807=) c.3547A= (p.Lys1183=) c.462A= c.3727A= (p.Lys1243=) c.3394A= (p.Lys1132=) | |
7 | g.117627690A>C | CA368997286 | CFTR | c.3517+120A>C (n.3517+120A>C) c.*3351A>C (n.*3351A>C) c.3454A>C (p.Lys1152Gln) c.3637A>C (p.Lys1213Gln) c.*290A>C (n.*290A>C) c.*298A>C (n.*298A>C) c.*2012A>C (n.*2012A>C) c.3631A>C (p.Lys1211Gln) c.*3461A>C (n.*3461A>C) c.3211A>C (p.Lys1071Gln) c.385A>C (p.Lys129Gln) c.1424A>C (n.1424A>C) c.219A>C c.1167+120A>C c.2419A>C (p.Lys807Gln) c.3547A>C (p.Lys1183Gln) c.462A>C c.3727A>C (p.Lys1243Gln) c.3394A>C (p.Lys1132Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627690A>G | CA368997282 | CFTR | c.3517+120A>G (n.3517+120A>G) c.*3351A>G (n.*3351A>G) c.3454A>G (p.Lys1152Glu) c.3637A>G (p.Lys1213Glu) c.*290A>G (n.*290A>G) c.*298A>G (n.*298A>G) c.*2012A>G (n.*2012A>G) c.3631A>G (p.Lys1211Glu) c.*3461A>G (n.*3461A>G) c.3211A>G (p.Lys1071Glu) c.385A>G (p.Lys129Glu) c.1424A>G (n.1424A>G) c.219A>G c.1167+120A>G c.2419A>G (p.Lys807Glu) c.3547A>G (p.Lys1183Glu) c.462A>G c.3727A>G (p.Lys1243Glu) c.3394A>G (p.Lys1132Glu) | ClinVar |
7 | g.117627690A>T | CA368997284 | CFTR | c.3517+120A>T (n.3517+120A>T) c.*3351A>T (n.*3351A>T) c.3454A>T (p.Lys1152Ter) c.3637A>T (p.Lys1213Ter) c.*290A>T (n.*290A>T) c.*298A>T (n.*298A>T) c.*2012A>T (n.*2012A>T) c.3631A>T (p.Lys1211Ter) c.*3461A>T (n.*3461A>T) c.3211A>T (p.Lys1071Ter) c.385A>T (p.Lys129Ter) c.1424A>T (n.1424A>T) c.219A>T c.1167+120A>T c.2419A>T (p.Lys807Ter) c.3547A>T (p.Lys1183Ter) c.462A>T c.3727A>T (p.Lys1243Ter) c.3394A>T (p.Lys1132Ter) | |
7 | g.117627692dup | CA2573141568 | CFTR | c.3517+122dup (n.3517+122dup) c.*3353dup (n.*3353dup) c.3456dup (p.Asp1153ArgfsTer?) c.3639dup (p.Asp1214ArgfsTer?) c.*292dup (n.*292dup) c.*300dup (n.*300dup) c.*2014dup (n.*2014dup) c.3633dup (p.Asp1212ArgfsTer?) c.*3463dup (n.*3463dup) c.3213dup (p.Asp1072ArgfsTer?) c.387dup (p.Asp130ArgfsTer?) c.1426dup (n.1426dup) c.221dup c.1167+122dup c.2421dup (p.Asp808ArgfsTer30) c.3456dup (p.Asp1153ArgfsTer30) c.3549dup (p.Asp1184ArgfsTer?) c.464dup c.3729dup (p.Asp1244ArgfsTer?) c.3396dup (p.Asp1133ArgfsTer?) | ClinVar dbSNP |
7 | g.117627692del | CA2695208380 | CFTR | c.3517+122del (n.3517+122del) c.*3353del (n.*3353del) c.3456del (p.Asp1153IlefsTer14) c.3639del (p.Asp1214IlefsTer14) c.*292del (n.*292del) c.*300del (n.*300del) c.*2014del (n.*2014del) c.3633del (p.Asp1212IlefsTer14) c.*3463del (n.*3463del) c.3213del (p.Asp1072IlefsTer14) c.387del (p.Asp130IlefsTer14) c.1426del (n.1426del) c.221del c.1167+122del c.2421del (p.Asp808IlefsTer14) c.3549del (p.Asp1184IlefsTer14) c.464del c.3729del (p.Asp1244IlefsTer14) c.3396del (p.Asp1133IlefsTer14) | |
7 | g.117627691A>C | CA368997288 | CFTR | c.3517+121A>C (n.3517+121A>C) c.*3352A>C (n.*3352A>C) c.3455A>C (p.Lys1152Thr) c.3638A>C (p.Lys1213Thr) c.*291A>C (n.*291A>C) c.*299A>C (n.*299A>C) c.*2013A>C (n.*2013A>C) c.3632A>C (p.Lys1211Thr) c.*3462A>C (n.*3462A>C) c.3212A>C (p.Lys1071Thr) c.386A>C (p.Lys129Thr) c.1425A>C (n.1425A>C) c.220A>C c.1167+121A>C c.2420A>C (p.Lys807Thr) c.3548A>C (p.Lys1183Thr) c.463A>C c.3728A>C (p.Lys1243Thr) c.3395A>C (p.Lys1132Thr) | |
7 | g.117627691A>G | CA368997290 | CFTR | c.3517+121A>G (n.3517+121A>G) c.*3352A>G (n.*3352A>G) c.3455A>G (p.Lys1152Arg) c.3638A>G (p.Lys1213Arg) c.*291A>G (n.*291A>G) c.*299A>G (n.*299A>G) c.*2013A>G (n.*2013A>G) c.3632A>G (p.Lys1211Arg) c.*3462A>G (n.*3462A>G) c.3212A>G (p.Lys1071Arg) c.386A>G (p.Lys129Arg) c.1425A>G (n.1425A>G) c.220A>G c.1167+121A>G c.2420A>G (p.Lys807Arg) c.3548A>G (p.Lys1183Arg) c.463A>G c.3728A>G (p.Lys1243Arg) c.3395A>G (p.Lys1132Arg) | |
7 | g.117627691A>T | CA368997292 | CFTR | c.3517+121A>T (n.3517+121A>T) c.*3352A>T (n.*3352A>T) c.3455A>T (p.Lys1152Ile) c.3638A>T (p.Lys1213Ile) c.*291A>T (n.*291A>T) c.*299A>T (n.*299A>T) c.*2013A>T (n.*2013A>T) c.3632A>T (p.Lys1211Ile) c.*3462A>T (n.*3462A>T) c.3212A>T (p.Lys1071Ile) c.386A>T (p.Lys129Ile) c.1425A>T (n.1425A>T) c.220A>T c.1167+121A>T c.2420A>T (p.Lys807Ile) c.3548A>T (p.Lys1183Ile) c.463A>T c.3728A>T (p.Lys1243Ile) c.3395A>T (p.Lys1132Ile) | |
7 | g.117627692A= | CA1737398697 | CFTR | c.3517+122A= (n.3517+122A=) c.*3353A= (n.*3353A=) c.3456A= (p.Lys1152=) c.3639A= (p.Lys1213=) c.*292A= (n.*292A=) c.*300A= (n.*300A=) c.*2014A= (n.*2014A=) c.3633A= (p.Lys1211=) c.*3463A= (n.*3463A=) c.3213A= (p.Lys1071=) c.387A= (p.Lys129=) c.1426A= (n.1426A=) c.221A= c.1167+122A= c.2421A= (p.Lys807=) c.3549A= (p.Lys1183=) c.464A= c.3729A= (p.Lys1243=) c.3396A= (p.Lys1132=) | |
7 | g.117627692A>C | CA368997294 | CFTR | c.3517+122A>C (n.3517+122A>C) c.*3353A>C (n.*3353A>C) c.3456A>C (p.Lys1152Asn) c.3639A>C (p.Lys1213Asn) c.*292A>C (n.*292A>C) c.*300A>C (n.*300A>C) c.*2014A>C (n.*2014A>C) c.3633A>C (p.Lys1211Asn) c.*3463A>C (n.*3463A>C) c.3213A>C (p.Lys1071Asn) c.387A>C (p.Lys129Asn) c.1426A>C (n.1426A>C) c.221A>C c.1167+122A>C c.2421A>C (p.Lys807Asn) c.3549A>C (p.Lys1183Asn) c.464A>C c.3729A>C (p.Lys1243Asn) c.3396A>C (p.Lys1132Asn) | |
7 | g.117627692A>G | CA457231441 | CFTR | c.3517+122A>G (n.3517+122A>G) c.*3353A>G (n.*3353A>G) c.3456A>G (p.Lys1152=) c.3639A>G (p.Lys1213=) c.*292A>G (n.*292A>G) c.*300A>G (n.*300A>G) c.*2014A>G (n.*2014A>G) c.3633A>G (p.Lys1211=) c.*3463A>G (n.*3463A>G) c.3213A>G (p.Lys1071=) c.387A>G (p.Lys129=) c.1426A>G (n.1426A>G) c.221A>G c.1167+122A>G c.2421A>G (p.Lys807=) c.3549A>G (p.Lys1183=) c.464A>G c.3729A>G (p.Lys1243=) c.3396A>G (p.Lys1132=) | gnomAD v4 |
7 | g.117627692A>T | CA368997295 | CFTR | c.3517+122A>T (n.3517+122A>T) c.*3353A>T (n.*3353A>T) c.3456A>T (p.Lys1152Asn) c.3639A>T (p.Lys1213Asn) c.*292A>T (n.*292A>T) c.*300A>T (n.*300A>T) c.*2014A>T (n.*2014A>T) c.3633A>T (p.Lys1211Asn) c.*3463A>T (n.*3463A>T) c.3213A>T (p.Lys1071Asn) c.387A>T (p.Lys129Asn) c.1426A>T (n.1426A>T) c.221A>T c.1167+122A>T c.2421A>T (p.Lys807Asn) c.3549A>T (p.Lys1183Asn) c.464A>T c.3729A>T (p.Lys1243Asn) c.3396A>T (p.Lys1132Asn) | dbSNP gnomAD v4 |
7 | g.117627693G>A | CA368997298 | CFTR | c.3517+123G>A (n.3517+123G>A) c.*3354G>A (n.*3354G>A) c.3457G>A (p.Asp1153Asn) c.3640G>A (p.Asp1214Asn) c.*293G>A (n.*293G>A) c.*301G>A (n.*301G>A) c.*2015G>A (n.*2015G>A) c.3634G>A (p.Asp1212Asn) c.*3464G>A (n.*3464G>A) c.3214G>A (p.Asp1072Asn) c.388G>A (p.Asp130Asn) c.1427G>A (n.1427G>A) c.222G>A c.1167+123G>A c.2422G>A (p.Asp808Asn) c.3550G>A (p.Asp1184Asn) c.465G>A c.3730G>A (p.Asp1244Asn) c.3397G>A (p.Asp1133Asn) | dbSNP |
7 | g.117627693G>C | CA368997301 | CFTR | c.3517+123G>C (n.3517+123G>C) c.*3354G>C (n.*3354G>C) c.3457G>C (p.Asp1153His) c.3640G>C (p.Asp1214His) c.*293G>C (n.*293G>C) c.*301G>C (n.*301G>C) c.*2015G>C (n.*2015G>C) c.3634G>C (p.Asp1212His) c.*3464G>C (n.*3464G>C) c.3214G>C (p.Asp1072His) c.388G>C (p.Asp130His) c.1427G>C (n.1427G>C) c.222G>C c.1167+123G>C c.2422G>C (p.Asp808His) c.3550G>C (p.Asp1184His) c.465G>C c.3730G>C (p.Asp1244His) c.3397G>C (p.Asp1133His) | |
7 | g.117627693G= | CA1737398698 | CFTR | c.3517+123G= (n.3517+123G=) c.*3354G= (n.*3354G=) c.3457G= (p.Asp1153=) c.3640G= (p.Asp1214=) c.*293G= (n.*293G=) c.*301G= (n.*301G=) c.*2015G= (n.*2015G=) c.3634G= (p.Asp1212=) c.*3464G= (n.*3464G=) c.3214G= (p.Asp1072=) c.388G= (p.Asp130=) c.1427G= (n.1427G=) c.222G= c.1167+123G= c.2422G= (p.Asp808=) c.3550G= (p.Asp1184=) c.465G= c.3730G= (p.Asp1244=) c.3397G= (p.Asp1133=) | |
7 | g.117627693G>T | CA368997299 | CFTR | c.3517+123G>T (n.3517+123G>T) c.*3354G>T (n.*3354G>T) c.3457G>T (p.Asp1153Tyr) c.3640G>T (p.Asp1214Tyr) c.*293G>T (n.*293G>T) c.*301G>T (n.*301G>T) c.*2015G>T (n.*2015G>T) c.3634G>T (p.Asp1212Tyr) c.*3464G>T (n.*3464G>T) c.3214G>T (p.Asp1072Tyr) c.388G>T (p.Asp130Tyr) c.1427G>T (n.1427G>T) c.222G>T c.1167+123G>T c.2422G>T (p.Asp808Tyr) c.3550G>T (p.Asp1184Tyr) c.465G>T c.3730G>T (p.Asp1244Tyr) c.3397G>T (p.Asp1133Tyr) | gnomAD v4 |
7 | g.117627694A= | CA1737398699 | CFTR | c.3517+124A= (n.3517+124A=) c.*3355A= (n.*3355A=) c.3458A= (p.Asp1153=) c.3641A= (p.Asp1214=) c.*294A= (n.*294A=) c.*302A= (n.*302A=) c.*2016A= (n.*2016A=) c.3635A= (p.Asp1212=) c.*3465A= (n.*3465A=) c.3215A= (p.Asp1072=) c.389A= (p.Asp130=) c.1428A= (n.1428A=) c.223A= c.1167+124A= c.2423A= (p.Asp808=) c.3551A= (p.Asp1184=) c.466A= c.3731A= (p.Asp1244=) c.3398A= (p.Asp1133=) | |
7 | g.117627694A>C | CA368997302 | CFTR | c.3517+124A>C (n.3517+124A>C) c.*3355A>C (n.*3355A>C) c.3458A>C (p.Asp1153Ala) c.3641A>C (p.Asp1214Ala) c.*294A>C (n.*294A>C) c.*302A>C (n.*302A>C) c.*2016A>C (n.*2016A>C) c.3635A>C (p.Asp1212Ala) c.*3465A>C (n.*3465A>C) c.3215A>C (p.Asp1072Ala) c.389A>C (p.Asp130Ala) c.1428A>C (n.1428A>C) c.223A>C c.1167+124A>C c.2423A>C (p.Asp808Ala) c.3551A>C (p.Asp1184Ala) c.466A>C c.3731A>C (p.Asp1244Ala) c.3398A>C (p.Asp1133Ala) | |
7 | g.117627694A>G | CA368997304 | CFTR | c.3517+124A>G (n.3517+124A>G) c.*3355A>G (n.*3355A>G) c.3458A>G (p.Asp1153Gly) c.3641A>G (p.Asp1214Gly) c.*294A>G (n.*294A>G) c.*302A>G (n.*302A>G) c.*2016A>G (n.*2016A>G) c.3635A>G (p.Asp1212Gly) c.*3465A>G (n.*3465A>G) c.3215A>G (p.Asp1072Gly) c.389A>G (p.Asp130Gly) c.1428A>G (n.1428A>G) c.223A>G c.1167+124A>G c.2423A>G (p.Asp808Gly) c.3551A>G (p.Asp1184Gly) c.466A>G c.3731A>G (p.Asp1244Gly) c.3398A>G (p.Asp1133Gly) | ClinVar gnomAD v4 |
7 | g.117627694A>T | CA368997305 | CFTR | c.3517+124A>T (n.3517+124A>T) c.*3355A>T (n.*3355A>T) c.3458A>T (p.Asp1153Val) c.3641A>T (p.Asp1214Val) c.*294A>T (n.*294A>T) c.*302A>T (n.*302A>T) c.*2016A>T (n.*2016A>T) c.3635A>T (p.Asp1212Val) c.*3465A>T (n.*3465A>T) c.3215A>T (p.Asp1072Val) c.389A>T (p.Asp130Val) c.1428A>T (n.1428A>T) c.223A>T c.1167+124A>T c.2423A>T (p.Asp808Val) c.3551A>T (p.Asp1184Val) c.466A>T c.3731A>T (p.Asp1244Val) c.3398A>T (p.Asp1133Val) | ClinVar dbSNP |
7 | g.117627695T>A | CA368997308 | CFTR | c.3517+125T>A (n.3517+125T>A) c.*3356T>A (n.*3356T>A) c.3459T>A (p.Asp1153Glu) c.3642T>A (p.Asp1214Glu) c.*295T>A (n.*295T>A) c.*303T>A (n.*303T>A) c.*2017T>A (n.*2017T>A) c.3636T>A (p.Asp1212Glu) c.*3466T>A (n.*3466T>A) c.3216T>A (p.Asp1072Glu) c.390T>A (p.Asp130Glu) c.1429T>A (n.1429T>A) c.224T>A c.1167+125T>A c.2424T>A (p.Asp808Glu) c.3552T>A (p.Asp1184Glu) c.467T>A c.3732T>A (p.Asp1244Glu) c.3399T>A (p.Asp1133Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627695T>C | CA457231442 | CFTR | c.3517+125T>C (n.3517+125T>C) c.*3356T>C (n.*3356T>C) c.3459T>C (p.Asp1153=) c.3642T>C (p.Asp1214=) c.*295T>C (n.*295T>C) c.*303T>C (n.*303T>C) c.*2017T>C (n.*2017T>C) c.3636T>C (p.Asp1212=) c.*3466T>C (n.*3466T>C) c.3216T>C (p.Asp1072=) c.390T>C (p.Asp130=) c.1429T>C (n.1429T>C) c.224T>C c.1167+125T>C c.2424T>C (p.Asp808=) c.3552T>C (p.Asp1184=) c.467T>C c.3732T>C (p.Asp1244=) c.3399T>C (p.Asp1133=) | |
7 | g.117627695T>G | CA368997310 | CFTR | c.3517+125T>G (n.3517+125T>G) c.*3356T>G (n.*3356T>G) c.3459T>G (p.Asp1153Glu) c.3642T>G (p.Asp1214Glu) c.*295T>G (n.*295T>G) c.*303T>G (n.*303T>G) c.*2017T>G (n.*2017T>G) c.3636T>G (p.Asp1212Glu) c.*3466T>G (n.*3466T>G) c.3216T>G (p.Asp1072Glu) c.390T>G (p.Asp130Glu) c.1429T>G (n.1429T>G) c.224T>G c.1167+125T>G c.2424T>G (p.Asp808Glu) c.3552T>G (p.Asp1184Glu) c.467T>G c.3732T>G (p.Asp1244Glu) c.3399T>G (p.Asp1133Glu) | |
7 | g.117627695T= | CA1737398700 | CFTR | c.3517+125T= (n.3517+125T=) c.*3356T= (n.*3356T=) c.3459T= (p.Asp1153=) c.3642T= (p.Asp1214=) c.*295T= (n.*295T=) c.*303T= (n.*303T=) c.*2017T= (n.*2017T=) c.3636T= (p.Asp1212=) c.*3466T= (n.*3466T=) c.3216T= (p.Asp1072=) c.390T= (p.Asp130=) c.1429T= (n.1429T=) c.224T= c.1167+125T= c.2424T= (p.Asp808=) c.3552T= (p.Asp1184=) c.467T= c.3732T= (p.Asp1244=) c.3399T= (p.Asp1133=) | |
7 | g.117627696C>A | CA368997312 | CFTR | c.3517+126C>A (n.3517+126C>A) c.*3357C>A (n.*3357C>A) c.3460C>A (p.Leu1154Ile) c.3643C>A (p.Leu1215Ile) c.*296C>A (n.*296C>A) c.*304C>A (n.*304C>A) c.*2018C>A (n.*2018C>A) c.3637C>A (p.Leu1213Ile) c.*3467C>A (n.*3467C>A) c.3217C>A (p.Leu1073Ile) c.391C>A (p.Leu131Ile) c.1430C>A (n.1430C>A) c.225C>A c.1167+126C>A c.2425C>A (p.Leu809Ile) c.3553C>A (p.Leu1185Ile) c.468C>A c.3733C>A (p.Leu1245Ile) c.3400C>A (p.Leu1134Ile) | |
7 | g.117627696C>G | CA368997313 | CFTR | c.3517+126C>G (n.3517+126C>G) c.*3357C>G (n.*3357C>G) c.3460C>G (p.Leu1154Val) c.3643C>G (p.Leu1215Val) c.*296C>G (n.*296C>G) c.*304C>G (n.*304C>G) c.*2018C>G (n.*2018C>G) c.3637C>G (p.Leu1213Val) c.*3467C>G (n.*3467C>G) c.3217C>G (p.Leu1073Val) c.391C>G (p.Leu131Val) c.1430C>G (n.1430C>G) c.225C>G c.1167+126C>G c.2425C>G (p.Leu809Val) c.3553C>G (p.Leu1185Val) c.468C>G c.3733C>G (p.Leu1245Val) c.3400C>G (p.Leu1134Val) | |
7 | g.117627696C>T | CA368997315 | CFTR | c.3517+126C>T (n.3517+126C>T) c.*3357C>T (n.*3357C>T) c.3460C>T (p.Leu1154Phe) c.3643C>T (p.Leu1215Phe) c.*296C>T (n.*296C>T) c.*304C>T (n.*304C>T) c.*2018C>T (n.*2018C>T) c.3637C>T (p.Leu1213Phe) c.*3467C>T (n.*3467C>T) c.3217C>T (p.Leu1073Phe) c.391C>T (p.Leu131Phe) c.1430C>T (n.1430C>T) c.225C>T c.1167+126C>T c.2425C>T (p.Leu809Phe) c.3553C>T (p.Leu1185Phe) c.468C>T c.3733C>T (p.Leu1245Phe) c.3400C>T (p.Leu1134Phe) | |
7 | g.117627697T>A | CA368997317 | CFTR | c.3517+127T>A (n.3517+127T>A) c.*3358T>A (n.*3358T>A) c.3461T>A (p.Leu1154His) c.3644T>A (p.Leu1215His) c.*297T>A (n.*297T>A) c.*305T>A (n.*305T>A) c.*2019T>A (n.*2019T>A) c.3638T>A (p.Leu1213His) c.*3468T>A (n.*3468T>A) c.3218T>A (p.Leu1073His) c.392T>A (p.Leu131His) c.1431T>A (n.1431T>A) c.226T>A c.1167+127T>A c.2426T>A (p.Leu809His) c.3554T>A (p.Leu1185His) c.469T>A c.3734T>A (p.Leu1245His) c.3401T>A (p.Leu1134His) | |
7 | g.117627697T>C | CA368997319 | CFTR | c.3517+127T>C (n.3517+127T>C) c.*3358T>C (n.*3358T>C) c.3461T>C (p.Leu1154Pro) c.3644T>C (p.Leu1215Pro) c.*297T>C (n.*297T>C) c.*305T>C (n.*305T>C) c.*2019T>C (n.*2019T>C) c.3638T>C (p.Leu1213Pro) c.*3468T>C (n.*3468T>C) c.3218T>C (p.Leu1073Pro) c.392T>C (p.Leu131Pro) c.1431T>C (n.1431T>C) c.226T>C c.1167+127T>C c.2426T>C (p.Leu809Pro) c.3554T>C (p.Leu1185Pro) c.469T>C c.3734T>C (p.Leu1245Pro) c.3401T>C (p.Leu1134Pro) | |
7 | g.117627697T>G | CA368997320 | CFTR | c.3517+127T>G (n.3517+127T>G) c.*3358T>G (n.*3358T>G) c.3461T>G (p.Leu1154Arg) c.3644T>G (p.Leu1215Arg) c.*297T>G (n.*297T>G) c.*305T>G (n.*305T>G) c.*2019T>G (n.*2019T>G) c.3638T>G (p.Leu1213Arg) c.*3468T>G (n.*3468T>G) c.3218T>G (p.Leu1073Arg) c.392T>G (p.Leu131Arg) c.1431T>G (n.1431T>G) c.226T>G c.1167+127T>G c.2426T>G (p.Leu809Arg) c.3554T>G (p.Leu1185Arg) c.469T>G c.3734T>G (p.Leu1245Arg) c.3401T>G (p.Leu1134Arg) | gnomAD v4 |
7 | g.117627698C>A | CA457231443 | CFTR | c.3517+128C>A (n.3517+128C>A) c.*3359C>A (n.*3359C>A) c.3462C>A (p.Leu1154=) c.3645C>A (p.Leu1215=) c.*298C>A (n.*298C>A) c.*306C>A (n.*306C>A) c.*2020C>A (n.*2020C>A) c.3639C>A (p.Leu1213=) c.*3469C>A (n.*3469C>A) c.3219C>A (p.Leu1073=) c.393C>A (p.Leu131=) c.1432C>A (n.1432C>A) c.227C>A c.1167+128C>A c.2427C>A (p.Leu809=) c.3555C>A (p.Leu1185=) c.470C>A c.3735C>A (p.Leu1245=) c.3402C>A (p.Leu1134=) | |
7 | g.117627698C>G | CA457231444 | CFTR | c.3517+128C>G (n.3517+128C>G) c.*3359C>G (n.*3359C>G) c.3462C>G (p.Leu1154=) c.3645C>G (p.Leu1215=) c.*298C>G (n.*298C>G) c.*306C>G (n.*306C>G) c.*2020C>G (n.*2020C>G) c.3639C>G (p.Leu1213=) c.*3469C>G (n.*3469C>G) c.3219C>G (p.Leu1073=) c.393C>G (p.Leu131=) c.1432C>G (n.1432C>G) c.227C>G c.1167+128C>G c.2427C>G (p.Leu809=) c.3555C>G (p.Leu1185=) c.470C>G c.3735C>G (p.Leu1245=) c.3402C>G (p.Leu1134=) | |
7 | g.117627698C>T | CA457231445 | CFTR | c.3517+128C>T (n.3517+128C>T) c.*3359C>T (n.*3359C>T) c.3462C>T (p.Leu1154=) c.3645C>T (p.Leu1215=) c.*298C>T (n.*298C>T) c.*306C>T (n.*306C>T) c.*2020C>T (n.*2020C>T) c.3639C>T (p.Leu1213=) c.*3469C>T (n.*3469C>T) c.3219C>T (p.Leu1073=) c.393C>T (p.Leu131=) c.1432C>T (n.1432C>T) c.227C>T c.1167+128C>T c.2427C>T (p.Leu809=) c.3555C>T (p.Leu1185=) c.470C>T c.3735C>T (p.Leu1245=) c.3402C>T (p.Leu1134=) | |
7 | g.117627699A= | CA1737398701 | CFTR | c.3517+129A= (n.3517+129A=) c.*3360A= (n.*3360A=) c.3463A= (p.Thr1155=) c.3646A= (p.Thr1216=) c.*299A= (n.*299A=) c.*307A= (n.*307A=) c.*2021A= (n.*2021A=) c.3640A= (p.Thr1214=) c.*3470A= (n.*3470A=) c.3220A= (p.Thr1074=) c.394A= (p.Thr132=) c.1433A= (n.1433A=) c.228A= c.1167+129A= c.2428A= (p.Thr810=) c.3556A= (p.Thr1186=) c.471A= c.3736A= (p.Thr1246=) c.3403A= (p.Thr1135=) | |
7 | g.117627699A>C | CA368997321 | CFTR | c.3517+129A>C (n.3517+129A>C) c.*3360A>C (n.*3360A>C) c.3463A>C (p.Thr1155Pro) c.3646A>C (p.Thr1216Pro) c.*299A>C (n.*299A>C) c.*307A>C (n.*307A>C) c.*2021A>C (n.*2021A>C) c.3640A>C (p.Thr1214Pro) c.*3470A>C (n.*3470A>C) c.3220A>C (p.Thr1074Pro) c.394A>C (p.Thr132Pro) c.1433A>C (n.1433A>C) c.228A>C c.1167+129A>C c.2428A>C (p.Thr810Pro) c.3556A>C (p.Thr1186Pro) c.471A>C c.3736A>C (p.Thr1246Pro) c.3403A>C (p.Thr1135Pro) | gnomAD v4 |
7 | g.117627699A>G | CA368997324 | CFTR | c.3517+129A>G (n.3517+129A>G) c.*3360A>G (n.*3360A>G) c.3463A>G (p.Thr1155Ala) c.3646A>G (p.Thr1216Ala) c.*299A>G (n.*299A>G) c.*307A>G (n.*307A>G) c.*2021A>G (n.*2021A>G) c.3640A>G (p.Thr1214Ala) c.*3470A>G (n.*3470A>G) c.3220A>G (p.Thr1074Ala) c.394A>G (p.Thr132Ala) c.1433A>G (n.1433A>G) c.228A>G c.1167+129A>G c.2428A>G (p.Thr810Ala) c.3556A>G (p.Thr1186Ala) c.471A>G c.3736A>G (p.Thr1246Ala) c.3403A>G (p.Thr1135Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627699A>T | CA368997323 | CFTR | c.3517+129A>T (n.3517+129A>T) c.*3360A>T (n.*3360A>T) c.3463A>T (p.Thr1155Ser) c.3646A>T (p.Thr1216Ser) c.*299A>T (n.*299A>T) c.*307A>T (n.*307A>T) c.*2021A>T (n.*2021A>T) c.3640A>T (p.Thr1214Ser) c.*3470A>T (n.*3470A>T) c.3220A>T (p.Thr1074Ser) c.394A>T (p.Thr132Ser) c.1433A>T (n.1433A>T) c.228A>T c.1167+129A>T c.2428A>T (p.Thr810Ser) c.3556A>T (p.Thr1186Ser) c.471A>T c.3736A>T (p.Thr1246Ser) c.3403A>T (p.Thr1135Ser) | |
7 | g.117627700C>A | CA368997325 | CFTR | c.3517+130C>A (n.3517+130C>A) c.*3361C>A (n.*3361C>A) c.3464C>A (p.Thr1155Lys) c.3647C>A (p.Thr1216Lys) c.*300C>A (n.*300C>A) c.*308C>A (n.*308C>A) c.*2022C>A (n.*2022C>A) c.3641C>A (p.Thr1214Lys) c.*3471C>A (n.*3471C>A) c.3221C>A (p.Thr1074Lys) c.395C>A (p.Thr132Lys) c.1434C>A (n.1434C>A) c.229C>A c.1167+130C>A c.2429C>A (p.Thr810Lys) c.3557C>A (p.Thr1186Lys) c.472C>A c.3737C>A (p.Thr1246Lys) c.3404C>A (p.Thr1135Lys) | COSMIC |
7 | g.117627700C>G | CA368997329 | CFTR | c.3517+130C>G (n.3517+130C>G) c.*3361C>G (n.*3361C>G) c.3464C>G (p.Thr1155Arg) c.3647C>G (p.Thr1216Arg) c.*300C>G (n.*300C>G) c.*308C>G (n.*308C>G) c.*2022C>G (n.*2022C>G) c.3641C>G (p.Thr1214Arg) c.*3471C>G (n.*3471C>G) c.3221C>G (p.Thr1074Arg) c.395C>G (p.Thr132Arg) c.1434C>G (n.1434C>G) c.229C>G c.1167+130C>G c.2429C>G (p.Thr810Arg) c.3557C>G (p.Thr1186Arg) c.472C>G c.3737C>G (p.Thr1246Arg) c.3404C>G (p.Thr1135Arg) | |
7 | g.117627700C>T | CA368997327 | CFTR | c.3517+130C>T (n.3517+130C>T) c.*3361C>T (n.*3361C>T) c.3464C>T (p.Thr1155Ile) c.3647C>T (p.Thr1216Ile) c.*300C>T (n.*300C>T) c.*308C>T (n.*308C>T) c.*2022C>T (n.*2022C>T) c.3641C>T (p.Thr1214Ile) c.*3471C>T (n.*3471C>T) c.3221C>T (p.Thr1074Ile) c.395C>T (p.Thr132Ile) c.1434C>T (n.1434C>T) c.229C>T c.1167+130C>T c.2429C>T (p.Thr810Ile) c.3557C>T (p.Thr1186Ile) c.472C>T c.3737C>T (p.Thr1246Ile) c.3404C>T (p.Thr1135Ile) | |
7 | g.117627701A>C | CA457231446 | CFTR | c.3517+131A>C (n.3517+131A>C) c.*3362A>C (n.*3362A>C) c.3465A>C (p.Thr1155=) c.3648A>C (p.Thr1216=) c.*301A>C (n.*301A>C) c.*309A>C (n.*309A>C) c.*2023A>C (n.*2023A>C) c.3642A>C (p.Thr1214=) c.*3472A>C (n.*3472A>C) c.3222A>C (p.Thr1074=) c.396A>C (p.Thr132=) c.1435A>C (n.1435A>C) c.230A>C c.1167+131A>C c.2430A>C (p.Thr810=) c.3558A>C (p.Thr1186=) c.473A>C c.3738A>C (p.Thr1246=) c.3405A>C (p.Thr1135=) | |
7 | g.117627701A>G | CA457231447 | CFTR | c.3517+131A>G (n.3517+131A>G) c.*3362A>G (n.*3362A>G) c.3465A>G (p.Thr1155=) c.3648A>G (p.Thr1216=) c.*301A>G (n.*301A>G) c.*309A>G (n.*309A>G) c.*2023A>G (n.*2023A>G) c.3642A>G (p.Thr1214=) c.*3472A>G (n.*3472A>G) c.3222A>G (p.Thr1074=) c.396A>G (p.Thr132=) c.1435A>G (n.1435A>G) c.230A>G c.1167+131A>G c.2430A>G (p.Thr810=) c.3558A>G (p.Thr1186=) c.473A>G c.3738A>G (p.Thr1246=) c.3405A>G (p.Thr1135=) | |
7 | g.117627701A>T | CA457231448 | CFTR | c.3517+131A>T (n.3517+131A>T) c.*3362A>T (n.*3362A>T) c.3465A>T (p.Thr1155=) c.3648A>T (p.Thr1216=) c.*301A>T (n.*301A>T) c.*309A>T (n.*309A>T) c.*2023A>T (n.*2023A>T) c.3642A>T (p.Thr1214=) c.*3472A>T (n.*3472A>T) c.3222A>T (p.Thr1074=) c.396A>T (p.Thr132=) c.1435A>T (n.1435A>T) c.230A>T c.1167+131A>T c.2430A>T (p.Thr810=) c.3558A>T (p.Thr1186=) c.473A>T c.3738A>T (p.Thr1246=) c.3405A>T (p.Thr1135=) | ClinVar |
7 | g.117627702G>A | CA368997331 | CFTR | c.3517+132G>A (n.3517+132G>A) c.*3363G>A (n.*3363G>A) c.3466G>A (p.Ala1156Thr) c.3649G>A (p.Ala1217Thr) c.*302G>A (n.*302G>A) c.*310G>A (n.*310G>A) c.*2024G>A (n.*2024G>A) c.3643G>A (p.Ala1215Thr) c.*3473G>A (n.*3473G>A) c.3223G>A (p.Ala1075Thr) c.397G>A (p.Ala133Thr) c.1436G>A (n.1436G>A) c.231G>A c.1167+132G>A c.2431G>A (p.Ala811Thr) c.3559G>A (p.Ala1187Thr) c.474G>A c.3739G>A (p.Ala1247Thr) c.3406G>A (p.Ala1136Thr) | |
7 | g.117627702G>C | CA368997333 | CFTR | c.3517+132G>C (n.3517+132G>C) c.*3363G>C (n.*3363G>C) c.3466G>C (p.Ala1156Pro) c.3649G>C (p.Ala1217Pro) c.*302G>C (n.*302G>C) c.*310G>C (n.*310G>C) c.*2024G>C (n.*2024G>C) c.3643G>C (p.Ala1215Pro) c.*3473G>C (n.*3473G>C) c.3223G>C (p.Ala1075Pro) c.397G>C (p.Ala133Pro) c.1436G>C (n.1436G>C) c.231G>C c.1167+132G>C c.2431G>C (p.Ala811Pro) c.3559G>C (p.Ala1187Pro) c.474G>C c.3739G>C (p.Ala1247Pro) c.3406G>C (p.Ala1136Pro) | |
7 | g.117627702G>T | CA368997335 | CFTR | c.3517+132G>T (n.3517+132G>T) c.*3363G>T (n.*3363G>T) c.3466G>T (p.Ala1156Ser) c.3649G>T (p.Ala1217Ser) c.*302G>T (n.*302G>T) c.*310G>T (n.*310G>T) c.*2024G>T (n.*2024G>T) c.3643G>T (p.Ala1215Ser) c.*3473G>T (n.*3473G>T) c.3223G>T (p.Ala1075Ser) c.397G>T (p.Ala133Ser) c.1436G>T (n.1436G>T) c.231G>T c.1167+132G>T c.2431G>T (p.Ala811Ser) c.3559G>T (p.Ala1187Ser) c.474G>T c.3739G>T (p.Ala1247Ser) c.3406G>T (p.Ala1136Ser) | |
7 | g.117627703C>A | CA368997337 | CFTR | c.3517+133C>A (n.3517+133C>A) c.*3364C>A (n.*3364C>A) c.3467C>A (p.Ala1156Glu) c.3650C>A (p.Ala1217Glu) c.*303C>A (n.*303C>A) c.*311C>A (n.*311C>A) c.*2025C>A (n.*2025C>A) c.3644C>A (p.Ala1215Glu) c.*3474C>A (n.*3474C>A) c.3224C>A (p.Ala1075Glu) c.398C>A (p.Ala133Glu) c.1437C>A (n.1437C>A) c.232C>A c.1167+133C>A c.2432C>A (p.Ala811Glu) c.3560C>A (p.Ala1187Glu) c.475C>A c.3740C>A (p.Ala1247Glu) c.3407C>A (p.Ala1136Glu) | gnomAD v4 |
7 | g.117627703C= | CA1737398702 | CFTR | c.3517+133C= (n.3517+133C=) c.*3364C= (n.*3364C=) c.3467C= (p.Ala1156=) c.3650C= (p.Ala1217=) c.*303C= (n.*303C=) c.*311C= (n.*311C=) c.*2025C= (n.*2025C=) c.3644C= (p.Ala1215=) c.*3474C= (n.*3474C=) c.3224C= (p.Ala1075=) c.398C= (p.Ala133=) c.1437C= (n.1437C=) c.232C= c.1167+133C= c.2432C= (p.Ala811=) c.3560C= (p.Ala1187=) c.475C= c.3740C= (p.Ala1247=) c.3407C= (p.Ala1136=) | |
7 | g.117627703C>G | CA368997339 | CFTR | c.3517+133C>G (n.3517+133C>G) c.*3364C>G (n.*3364C>G) c.3467C>G (p.Ala1156Gly) c.3650C>G (p.Ala1217Gly) c.*303C>G (n.*303C>G) c.*311C>G (n.*311C>G) c.*2025C>G (n.*2025C>G) c.3644C>G (p.Ala1215Gly) c.*3474C>G (n.*3474C>G) c.3224C>G (p.Ala1075Gly) c.398C>G (p.Ala133Gly) c.1437C>G (n.1437C>G) c.232C>G c.1167+133C>G c.2432C>G (p.Ala811Gly) c.3560C>G (p.Ala1187Gly) c.475C>G c.3740C>G (p.Ala1247Gly) c.3407C>G (p.Ala1136Gly) | |
7 | g.117627703C>T | CA4451511 | CFTR | c.3517+133C>T (n.3517+133C>T) c.*3364C>T (n.*3364C>T) c.3467C>T (p.Ala1156Val) c.3650C>T (p.Ala1217Val) c.*303C>T (n.*303C>T) c.*311C>T (n.*311C>T) c.*2025C>T (n.*2025C>T) c.3644C>T (p.Ala1215Val) c.*3474C>T (n.*3474C>T) c.3224C>T (p.Ala1075Val) c.398C>T (p.Ala133Val) c.1437C>T (n.1437C>T) c.232C>T c.1167+133C>T c.2432C>T (p.Ala811Val) c.3560C>T (p.Ala1187Val) c.475C>T c.3740C>T (p.Ala1247Val) c.3407C>T (p.Ala1136Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627704A>C | CA457231449 | CFTR | c.3517+134A>C (n.3517+134A>C) c.*3365A>C (n.*3365A>C) c.3468A>C (p.Ala1156=) c.3651A>C (p.Ala1217=) c.*304A>C (n.*304A>C) c.*312A>C (n.*312A>C) c.*2026A>C (n.*2026A>C) c.3645A>C (p.Ala1215=) c.*3475A>C (n.*3475A>C) c.3225A>C (p.Ala1075=) c.399A>C (p.Ala133=) c.1438A>C (n.1438A>C) c.233A>C c.1167+134A>C c.2433A>C (p.Ala811=) c.3561A>C (p.Ala1187=) c.476A>C c.3741A>C (p.Ala1247=) c.3408A>C (p.Ala1136=) | |
7 | g.117627704A>G | CA457231450 | CFTR | c.3517+134A>G (n.3517+134A>G) c.*3365A>G (n.*3365A>G) c.3468A>G (p.Ala1156=) c.3651A>G (p.Ala1217=) c.*304A>G (n.*304A>G) c.*312A>G (n.*312A>G) c.*2026A>G (n.*2026A>G) c.3645A>G (p.Ala1215=) c.*3475A>G (n.*3475A>G) c.3225A>G (p.Ala1075=) c.399A>G (p.Ala133=) c.1438A>G (n.1438A>G) c.233A>G c.1167+134A>G c.2433A>G (p.Ala811=) c.3561A>G (p.Ala1187=) c.476A>G c.3741A>G (p.Ala1247=) c.3408A>G (p.Ala1136=) | |
7 | g.117627704A>T | CA457231451 | CFTR | c.3517+134A>T (n.3517+134A>T) c.*3365A>T (n.*3365A>T) c.3468A>T (p.Ala1156=) c.3651A>T (p.Ala1217=) c.*304A>T (n.*304A>T) c.*312A>T (n.*312A>T) c.*2026A>T (n.*2026A>T) c.3645A>T (p.Ala1215=) c.*3475A>T (n.*3475A>T) c.3225A>T (p.Ala1075=) c.399A>T (p.Ala133=) c.1438A>T (n.1438A>T) c.233A>T c.1167+134A>T c.2433A>T (p.Ala811=) c.3561A>T (p.Ala1187=) c.476A>T c.3741A>T (p.Ala1247=) c.3408A>T (p.Ala1136=) | gnomAD v4 |
7 | g.117627705A>C | CA368997342 | CFTR | c.3517+135A>C (n.3517+135A>C) c.*3366A>C (n.*3366A>C) c.3469A>C (p.Lys1157Gln) c.3652A>C (p.Lys1218Gln) c.*305A>C (n.*305A>C) c.*313A>C (n.*313A>C) c.*2027A>C (n.*2027A>C) c.3646A>C (p.Lys1216Gln) c.*3476A>C (n.*3476A>C) c.3226A>C (p.Lys1076Gln) c.400A>C (p.Lys134Gln) c.1439A>C (n.1439A>C) c.234A>C c.1167+135A>C c.2434A>C (p.Lys812Gln) c.3562A>C (p.Lys1188Gln) c.477A>C c.3742A>C (p.Lys1248Gln) c.3409A>C (p.Lys1137Gln) | |
7 | g.117627705A>G | CA368997343 | CFTR | c.3517+135A>G (n.3517+135A>G) c.*3366A>G (n.*3366A>G) c.3469A>G (p.Lys1157Glu) c.3652A>G (p.Lys1218Glu) c.*305A>G (n.*305A>G) c.*313A>G (n.*313A>G) c.*2027A>G (n.*2027A>G) c.3646A>G (p.Lys1216Glu) c.*3476A>G (n.*3476A>G) c.3226A>G (p.Lys1076Glu) c.400A>G (p.Lys134Glu) c.1439A>G (n.1439A>G) c.234A>G c.1167+135A>G c.2434A>G (p.Lys812Glu) c.3562A>G (p.Lys1188Glu) c.477A>G c.3742A>G (p.Lys1248Glu) c.3409A>G (p.Lys1137Glu) | |
7 | g.117627705A>T | CA368997344 | CFTR | c.3517+135A>T (n.3517+135A>T) c.*3366A>T (n.*3366A>T) c.3469A>T (p.Lys1157Ter) c.3652A>T (p.Lys1218Ter) c.*305A>T (n.*305A>T) c.*313A>T (n.*313A>T) c.*2027A>T (n.*2027A>T) c.3646A>T (p.Lys1216Ter) c.*3476A>T (n.*3476A>T) c.3226A>T (p.Lys1076Ter) c.400A>T (p.Lys134Ter) c.1439A>T (n.1439A>T) c.234A>T c.1167+135A>T c.2434A>T (p.Lys812Ter) c.3562A>T (p.Lys1188Ter) c.477A>T c.3742A>T (p.Lys1248Ter) c.3409A>T (p.Lys1137Ter) | |
7 | g.117627706_117627709dup | CA2695208381 | CFTR | c.3517+136_3517+139dup (n.3517+136_3517+139dup) c.*3367_*3370dup (n.*3367_*3370dup) c.3470_3473dup (p.Tyr1158Ter) c.3653_3656dup (p.Tyr1219Ter) c.*306_*309dup (n.*306_*309dup) c.*314_*317dup (n.*314_*317dup) c.*2028_*2031dup (n.*2028_*2031dup) c.3647_3650dup (p.Tyr1217Ter) c.*3477_*3480dup (n.*3477_*3480dup) c.3227_3230dup (p.Tyr1077Ter) c.401_404dup (p.Tyr135Ter) c.1440_1443dup (n.1440_1443dup) c.235_238dup c.1167+136_1167+139dup c.2435_2438dup (p.Tyr813Ter) c.3563_3566dup (p.Tyr1189Ter) c.478_481dup c.3743_3746dup (p.Tyr1249Ter) c.3410_3413dup (p.Tyr1138Ter) | |
7 | g.117627706A>C | CA368997346 | CFTR | c.3517+136A>C (n.3517+136A>C) c.*3367A>C (n.*3367A>C) c.3470A>C (p.Lys1157Thr) c.3653A>C (p.Lys1218Thr) c.*306A>C (n.*306A>C) c.*314A>C (n.*314A>C) c.*2028A>C (n.*2028A>C) c.3647A>C (p.Lys1216Thr) c.*3477A>C (n.*3477A>C) c.3227A>C (p.Lys1076Thr) c.401A>C (p.Lys134Thr) c.1440A>C (n.1440A>C) c.235A>C c.1167+136A>C c.2435A>C (p.Lys812Thr) c.3563A>C (p.Lys1188Thr) c.478A>C c.3743A>C (p.Lys1248Thr) c.3410A>C (p.Lys1137Thr) | |
7 | g.117627706A>G | CA368997349 | CFTR | c.3517+136A>G (n.3517+136A>G) c.*3367A>G (n.*3367A>G) c.3470A>G (p.Lys1157Arg) c.3653A>G (p.Lys1218Arg) c.*306A>G (n.*306A>G) c.*314A>G (n.*314A>G) c.*2028A>G (n.*2028A>G) c.3647A>G (p.Lys1216Arg) c.*3477A>G (n.*3477A>G) c.3227A>G (p.Lys1076Arg) c.401A>G (p.Lys134Arg) c.1440A>G (n.1440A>G) c.235A>G c.1167+136A>G c.2435A>G (p.Lys812Arg) c.3563A>G (p.Lys1188Arg) c.478A>G c.3743A>G (p.Lys1248Arg) c.3410A>G (p.Lys1137Arg) | |
7 | g.117627706A>T | CA368997350 | CFTR | c.3517+136A>T (n.3517+136A>T) c.*3367A>T (n.*3367A>T) c.3470A>T (p.Lys1157Ile) c.3653A>T (p.Lys1218Ile) c.*306A>T (n.*306A>T) c.*314A>T (n.*314A>T) c.*2028A>T (n.*2028A>T) c.3647A>T (p.Lys1216Ile) c.*3477A>T (n.*3477A>T) c.3227A>T (p.Lys1076Ile) c.401A>T (p.Lys134Ile) c.1440A>T (n.1440A>T) c.235A>T c.1167+136A>T c.2435A>T (p.Lys812Ile) c.3563A>T (p.Lys1188Ile) c.478A>T c.3743A>T (p.Lys1248Ile) c.3410A>T (p.Lys1137Ile) | |
7 | g.117627707A>C | CA368997354 | CFTR | c.3517+137A>C (n.3517+137A>C) c.*3368A>C (n.*3368A>C) c.3471A>C (p.Lys1157Asn) c.3654A>C (p.Lys1218Asn) c.*307A>C (n.*307A>C) c.*315A>C (n.*315A>C) c.*2029A>C (n.*2029A>C) c.3648A>C (p.Lys1216Asn) c.*3478A>C (n.*3478A>C) c.3228A>C (p.Lys1076Asn) c.402A>C (p.Lys134Asn) c.1441A>C (n.1441A>C) c.236A>C c.1167+137A>C c.2436A>C (p.Lys812Asn) c.3564A>C (p.Lys1188Asn) c.479A>C c.3744A>C (p.Lys1248Asn) c.3411A>C (p.Lys1137Asn) | |
7 | g.117627707A>G | CA457231452 | CFTR | c.3517+137A>G (n.3517+137A>G) c.*3368A>G (n.*3368A>G) c.3471A>G (p.Lys1157=) c.3654A>G (p.Lys1218=) c.*307A>G (n.*307A>G) c.*315A>G (n.*315A>G) c.*2029A>G (n.*2029A>G) c.3648A>G (p.Lys1216=) c.*3478A>G (n.*3478A>G) c.3228A>G (p.Lys1076=) c.402A>G (p.Lys134=) c.1441A>G (n.1441A>G) c.236A>G c.1167+137A>G c.2436A>G (p.Lys812=) c.3564A>G (p.Lys1188=) c.479A>G c.3744A>G (p.Lys1248=) c.3411A>G (p.Lys1137=) | |
7 | g.117627707A>T | CA368997353 | CFTR | c.3517+137A>T (n.3517+137A>T) c.*3368A>T (n.*3368A>T) c.3471A>T (p.Lys1157Asn) c.3654A>T (p.Lys1218Asn) c.*307A>T (n.*307A>T) c.*315A>T (n.*315A>T) c.*2029A>T (n.*2029A>T) c.3648A>T (p.Lys1216Asn) c.*3478A>T (n.*3478A>T) c.3228A>T (p.Lys1076Asn) c.402A>T (p.Lys134Asn) c.1441A>T (n.1441A>T) c.236A>T c.1167+137A>T c.2436A>T (p.Lys812Asn) c.3564A>T (p.Lys1188Asn) c.479A>T c.3744A>T (p.Lys1248Asn) c.3411A>T (p.Lys1137Asn) | |
7 | g.117627708T>A | CA368997356 | CFTR | c.3517+138T>A (n.3517+138T>A) c.*3369T>A (n.*3369T>A) c.3472T>A (p.Tyr1158Asn) c.3655T>A (p.Tyr1219Asn) c.*308T>A (n.*308T>A) c.*316T>A (n.*316T>A) c.*2030T>A (n.*2030T>A) c.3649T>A (p.Tyr1217Asn) c.*3479T>A (n.*3479T>A) c.3229T>A (p.Tyr1077Asn) c.403T>A (p.Tyr135Asn) c.1442T>A (n.1442T>A) c.237T>A c.1167+138T>A c.2437T>A (p.Tyr813Asn) c.3565T>A (p.Tyr1189Asn) c.480T>A c.3745T>A (p.Tyr1249Asn) c.3412T>A (p.Tyr1138Asn) | |
7 | g.117627708T>C | CA4451512 | CFTR | c.3517+138T>C (n.3517+138T>C) c.*3369T>C (n.*3369T>C) c.3472T>C (p.Tyr1158His) c.3655T>C (p.Tyr1219His) c.*308T>C (n.*308T>C) c.*316T>C (n.*316T>C) c.*2030T>C (n.*2030T>C) c.3649T>C (p.Tyr1217His) c.*3479T>C (n.*3479T>C) c.3229T>C (p.Tyr1077His) c.403T>C (p.Tyr135His) c.1442T>C (n.1442T>C) c.237T>C c.1167+138T>C c.2437T>C (p.Tyr813His) c.3565T>C (p.Tyr1189His) c.480T>C c.3745T>C (p.Tyr1249His) c.3412T>C (p.Tyr1138His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627708T>G | CA368997358 | CFTR | c.3517+138T>G (n.3517+138T>G) c.*3369T>G (n.*3369T>G) c.3472T>G (p.Tyr1158Asp) c.3655T>G (p.Tyr1219Asp) c.*308T>G (n.*308T>G) c.*316T>G (n.*316T>G) c.*2030T>G (n.*2030T>G) c.3649T>G (p.Tyr1217Asp) c.*3479T>G (n.*3479T>G) c.3229T>G (p.Tyr1077Asp) c.403T>G (p.Tyr135Asp) c.1442T>G (n.1442T>G) c.237T>G c.1167+138T>G c.2437T>G (p.Tyr813Asp) c.3565T>G (p.Tyr1189Asp) c.480T>G c.3745T>G (p.Tyr1249Asp) c.3412T>G (p.Tyr1138Asp) | |
7 | g.117627708T= | CA1737398703 | CFTR | c.3517+138T= (n.3517+138T=) c.*3369T= (n.*3369T=) c.3472T= (p.Tyr1158=) c.3655T= (p.Tyr1219=) c.*308T= (n.*308T=) c.*316T= (n.*316T=) c.*2030T= (n.*2030T=) c.3649T= (p.Tyr1217=) c.*3479T= (n.*3479T=) c.3229T= (p.Tyr1077=) c.403T= (p.Tyr135=) c.1442T= (n.1442T=) c.237T= c.1167+138T= c.2437T= (p.Tyr813=) c.3565T= (p.Tyr1189=) c.480T= c.3745T= (p.Tyr1249=) c.3412T= (p.Tyr1138=) | |
7 | g.117627709A>C | CA368997360 | CFTR | c.3517+139A>C (n.3517+139A>C) c.*3370A>C (n.*3370A>C) c.3473A>C (p.Tyr1158Ser) c.3656A>C (p.Tyr1219Ser) c.*309A>C (n.*309A>C) c.*317A>C (n.*317A>C) c.*2031A>C (n.*2031A>C) c.3650A>C (p.Tyr1217Ser) c.*3480A>C (n.*3480A>C) c.3230A>C (p.Tyr1077Ser) c.404A>C (p.Tyr135Ser) c.1443A>C (n.1443A>C) c.238A>C c.1167+139A>C c.2438A>C (p.Tyr813Ser) c.3566A>C (p.Tyr1189Ser) c.481A>C c.3746A>C (p.Tyr1249Ser) c.3413A>C (p.Tyr1138Ser) | |
7 | g.117627709A>G | CA368997362 | CFTR | c.3517+139A>G (n.3517+139A>G) c.*3370A>G (n.*3370A>G) c.3473A>G (p.Tyr1158Cys) c.3656A>G (p.Tyr1219Cys) c.*309A>G (n.*309A>G) c.*317A>G (n.*317A>G) c.*2031A>G (n.*2031A>G) c.3650A>G (p.Tyr1217Cys) c.*3480A>G (n.*3480A>G) c.3230A>G (p.Tyr1077Cys) c.404A>G (p.Tyr135Cys) c.1443A>G (n.1443A>G) c.238A>G c.1167+139A>G c.2438A>G (p.Tyr813Cys) c.3566A>G (p.Tyr1189Cys) c.481A>G c.3746A>G (p.Tyr1249Cys) c.3413A>G (p.Tyr1138Cys) | |
7 | g.117627709A>T | CA368997364 | CFTR | c.3517+139A>T (n.3517+139A>T) c.*3370A>T (n.*3370A>T) c.3473A>T (p.Tyr1158Phe) c.3656A>T (p.Tyr1219Phe) c.*309A>T (n.*309A>T) c.*317A>T (n.*317A>T) c.*2031A>T (n.*2031A>T) c.3650A>T (p.Tyr1217Phe) c.*3480A>T (n.*3480A>T) c.3230A>T (p.Tyr1077Phe) c.404A>T (p.Tyr135Phe) c.1443A>T (n.1443A>T) c.238A>T c.1167+139A>T c.2438A>T (p.Tyr813Phe) c.3566A>T (p.Tyr1189Phe) c.481A>T c.3746A>T (p.Tyr1249Phe) c.3413A>T (p.Tyr1138Phe) | |
7 | g.117627710C>A | CA368997366 | CFTR | c.3517+140C>A (n.3517+140C>A) c.*3371C>A (n.*3371C>A) c.3474C>A (p.Tyr1158Ter) c.3657C>A (p.Tyr1219Ter) c.*310C>A (n.*310C>A) c.*318C>A (n.*318C>A) c.*2032C>A (n.*2032C>A) c.3651C>A (p.Tyr1217Ter) c.*3481C>A (n.*3481C>A) c.3231C>A (p.Tyr1077Ter) c.405C>A (p.Tyr135Ter) c.1444C>A (n.1444C>A) c.239C>A c.1167+140C>A c.2439C>A (p.Tyr813Ter) c.3567C>A (p.Tyr1189Ter) c.482C>A c.3747C>A (p.Tyr1249Ter) c.3414C>A (p.Tyr1138Ter) | |
7 | g.117627710C>G | CA368997368 | CFTR | c.3517+140C>G (n.3517+140C>G) c.*3371C>G (n.*3371C>G) c.3474C>G (p.Tyr1158Ter) c.3657C>G (p.Tyr1219Ter) c.*310C>G (n.*310C>G) c.*318C>G (n.*318C>G) c.*2032C>G (n.*2032C>G) c.3651C>G (p.Tyr1217Ter) c.*3481C>G (n.*3481C>G) c.3231C>G (p.Tyr1077Ter) c.405C>G (p.Tyr135Ter) c.1444C>G (n.1444C>G) c.239C>G c.1167+140C>G c.2439C>G (p.Tyr813Ter) c.3567C>G (p.Tyr1189Ter) c.482C>G c.3747C>G (p.Tyr1249Ter) c.3414C>G (p.Tyr1138Ter) | |
7 | g.117627710C>T | CA457231453 | CFTR | c.3517+140C>T (n.3517+140C>T) c.*3371C>T (n.*3371C>T) c.3474C>T (p.Tyr1158=) c.3657C>T (p.Tyr1219=) c.*310C>T (n.*310C>T) c.*318C>T (n.*318C>T) c.*2032C>T (n.*2032C>T) c.3651C>T (p.Tyr1217=) c.*3481C>T (n.*3481C>T) c.3231C>T (p.Tyr1077=) c.405C>T (p.Tyr135=) c.1444C>T (n.1444C>T) c.239C>T c.1167+140C>T c.2439C>T (p.Tyr813=) c.3567C>T (p.Tyr1189=) c.482C>T c.3747C>T (p.Tyr1249=) c.3414C>T (p.Tyr1138=) | ClinVar dbSNP gnomAD v4 |
7 | g.117627711A>C | CA368997370 | CFTR | c.3517+141A>C (n.3517+141A>C) c.*3372A>C (n.*3372A>C) c.3475A>C (p.Thr1159Pro) c.3658A>C (p.Thr1220Pro) c.*311A>C (n.*311A>C) c.*319A>C (n.*319A>C) c.*2033A>C (n.*2033A>C) c.3652A>C (p.Thr1218Pro) c.*3482A>C (n.*3482A>C) c.3232A>C (p.Thr1078Pro) c.406A>C (p.Thr136Pro) c.1445A>C (n.1445A>C) c.240A>C c.1167+141A>C c.2440A>C (p.Thr814Pro) c.3568A>C (p.Thr1190Pro) c.483A>C c.3748A>C (p.Thr1250Pro) c.3415A>C (p.Thr1139Pro) | |
7 | g.117627711A>G | CA368997371 | CFTR | c.3517+141A>G (n.3517+141A>G) c.*3372A>G (n.*3372A>G) c.3475A>G (p.Thr1159Ala) c.3658A>G (p.Thr1220Ala) c.*311A>G (n.*311A>G) c.*319A>G (n.*319A>G) c.*2033A>G (n.*2033A>G) c.3652A>G (p.Thr1218Ala) c.*3482A>G (n.*3482A>G) c.3232A>G (p.Thr1078Ala) c.406A>G (p.Thr136Ala) c.1445A>G (n.1445A>G) c.240A>G c.1167+141A>G c.2440A>G (p.Thr814Ala) c.3568A>G (p.Thr1190Ala) c.483A>G c.3748A>G (p.Thr1250Ala) c.3415A>G (p.Thr1139Ala) | |
7 | g.117627711A>T | CA368997372 | CFTR | c.3517+141A>T (n.3517+141A>T) c.*3372A>T (n.*3372A>T) c.3475A>T (p.Thr1159Ser) c.3658A>T (p.Thr1220Ser) c.*311A>T (n.*311A>T) c.*319A>T (n.*319A>T) c.*2033A>T (n.*2033A>T) c.3652A>T (p.Thr1218Ser) c.*3482A>T (n.*3482A>T) c.3232A>T (p.Thr1078Ser) c.406A>T (p.Thr136Ser) c.1445A>T (n.1445A>T) c.240A>T c.1167+141A>T c.2440A>T (p.Thr814Ser) c.3568A>T (p.Thr1190Ser) c.483A>T c.3748A>T (p.Thr1250Ser) c.3415A>T (p.Thr1139Ser) | |
7 | g.117627711dup | CA2695208382 | CFTR | c.3517+141dup (n.3517+141dup) c.*3372dup (n.*3372dup) c.3475dup (p.Thr1159AsnfsTer?) c.3658dup (p.Thr1220AsnfsTer?) c.*311dup (n.*311dup) c.*319dup (n.*319dup) c.*2033dup (n.*2033dup) c.3652dup (p.Thr1218AsnfsTer?) c.*3482dup (n.*3482dup) c.3232dup (p.Thr1078AsnfsTer?) c.406dup (p.Thr136AsnfsTer?) c.1445dup (n.1445dup) c.240dup c.1167+141dup c.2440dup (p.Thr814AsnfsTer24) c.3475dup (p.Thr1159AsnfsTer24) c.3568dup (p.Thr1190AsnfsTer?) c.483dup c.3748dup (p.Thr1250AsnfsTer?) c.3415dup (p.Thr1139AsnfsTer?) | |
7 | g.117627711_117627712delinsAC | CA1737398704 | CFTR | c.3517+141_3517+142delinsAC (n.3517+141_3517+142delinsAC) c.*3372_*3373delinsAC (n.*3372_*3373delinsAC) c.3475_3476delinsAC (p.Thr1159=) c.3658_3659delinsAC (p.Thr1220=) c.*311_*312delinsAC (n.*311_*312delinsAC) c.*319_*320delinsAC (n.*319_*320delinsAC) c.*2033_*2034delinsAC (n.*2033_*2034delinsAC) c.3652_3653delinsAC (p.Thr1218=) c.*3482_*3483delinsAC (n.*3482_*3483delinsAC) c.3232_3233delinsAC (p.Thr1078=) c.406_407delinsAC (p.Thr136=) c.1445_1446delinsAC (n.1445_1446delinsAC) c.240_241delinsAC c.1167+141_1167+142delinsAC c.2440_2441delinsAC (p.Thr814=) c.3568_3569delinsAC (p.Thr1190=) c.483_484delinsAC c.3748_3749delinsAC (p.Thr1250=) c.3415_3416delinsAC (p.Thr1139=) | |
7 | g.117627712del | CA325524 | CFTR | c.3517+142del (n.3517+142del) c.*3373del (n.*3373del) c.3476del (p.Thr1159LysfsTer8) c.3659del (p.Thr1220LysfsTer8) c.*312del (n.*312del) c.*320del (n.*320del) c.*2034del (n.*2034del) c.3653del (p.Thr1218LysfsTer8) c.*3483del (n.*3483del) c.3233del (p.Thr1078LysfsTer8) c.407del (p.Thr136LysfsTer8) c.1446del (n.1446del) c.241del c.1167+142del c.2441del (p.Thr814LysfsTer8) c.3569del (p.Thr1190LysfsTer8) c.484del c.3749del (p.Thr1250LysfsTer8) c.3416del (p.Thr1139LysfsTer8) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627712C>A | CA368997376 | CFTR | c.3517+142C>A (n.3517+142C>A) c.*3373C>A (n.*3373C>A) c.3476C>A (p.Thr1159Lys) c.3659C>A (p.Thr1220Lys) c.*312C>A (n.*312C>A) c.*320C>A (n.*320C>A) c.*2034C>A (n.*2034C>A) c.3653C>A (p.Thr1218Lys) c.*3483C>A (n.*3483C>A) c.3233C>A (p.Thr1078Lys) c.407C>A (p.Thr136Lys) c.1446C>A (n.1446C>A) c.241C>A c.1167+142C>A c.2441C>A (p.Thr814Lys) c.3569C>A (p.Thr1190Lys) c.484C>A c.3749C>A (p.Thr1250Lys) c.3416C>A (p.Thr1139Lys) | |
7 | g.117627712C= | CA1737398705 | CFTR | c.3517+142C= (n.3517+142C=) c.*3373C= (n.*3373C=) c.3476C= (p.Thr1159=) c.3659C= (p.Thr1220=) c.*312C= (n.*312C=) c.*320C= (n.*320C=) c.*2034C= (n.*2034C=) c.3653C= (p.Thr1218=) c.*3483C= (n.*3483C=) c.3233C= (p.Thr1078=) c.407C= (p.Thr136=) c.1446C= (n.1446C=) c.241C= c.1167+142C= c.2441C= (p.Thr814=) c.3569C= (p.Thr1190=) c.484C= c.3749C= (p.Thr1250=) c.3416C= (p.Thr1139=) | |
7 | g.117627712C>G | CA368997375 | CFTR | c.3517+142C>G (n.3517+142C>G) c.*3373C>G (n.*3373C>G) c.3476C>G (p.Thr1159Arg) c.3659C>G (p.Thr1220Arg) c.*312C>G (n.*312C>G) c.*320C>G (n.*320C>G) c.*2034C>G (n.*2034C>G) c.3653C>G (p.Thr1218Arg) c.*3483C>G (n.*3483C>G) c.3233C>G (p.Thr1078Arg) c.407C>G (p.Thr136Arg) c.1446C>G (n.1446C>G) c.241C>G c.1167+142C>G c.2441C>G (p.Thr814Arg) c.3569C>G (p.Thr1190Arg) c.484C>G c.3749C>G (p.Thr1250Arg) c.3416C>G (p.Thr1139Arg) | |
7 | g.117627712C>T | CA254115 | CFTR | c.3517+142C>T (n.3517+142C>T) c.*3373C>T (n.*3373C>T) c.3476C>T (p.Thr1159Ile) c.3659C>T (p.Thr1220Ile) c.*312C>T (n.*312C>T) c.*320C>T (n.*320C>T) c.*2034C>T (n.*2034C>T) c.3653C>T (p.Thr1218Ile) c.*3483C>T (n.*3483C>T) c.3233C>T (p.Thr1078Ile) c.407C>T (p.Thr136Ile) c.1446C>T (n.1446C>T) c.241C>T c.1167+142C>T c.2441C>T (p.Thr814Ile) c.3569C>T (p.Thr1190Ile) c.484C>T c.3749C>T (p.Thr1250Ile) c.3416C>T (p.Thr1139Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627713A>C | CA457231454 | CFTR | c.3517+143A>C (n.3517+143A>C) c.*3374A>C (n.*3374A>C) c.3477A>C (p.Thr1159=) c.3660A>C (p.Thr1220=) c.*313A>C (n.*313A>C) c.*321A>C (n.*321A>C) c.*2035A>C (n.*2035A>C) c.3654A>C (p.Thr1218=) c.*3484A>C (n.*3484A>C) c.3234A>C (p.Thr1078=) c.408A>C (p.Thr136=) c.1447A>C (n.1447A>C) c.242A>C c.1167+143A>C c.2442A>C (p.Thr814=) c.3570A>C (p.Thr1190=) c.485A>C c.3750A>C (p.Thr1250=) c.3417A>C (p.Thr1139=) | |
7 | g.117627713A>G | CA457231456 | CFTR | c.3517+143A>G (n.3517+143A>G) c.*3374A>G (n.*3374A>G) c.3477A>G (p.Thr1159=) c.3660A>G (p.Thr1220=) c.*313A>G (n.*313A>G) c.*321A>G (n.*321A>G) c.*2035A>G (n.*2035A>G) c.3654A>G (p.Thr1218=) c.*3484A>G (n.*3484A>G) c.3234A>G (p.Thr1078=) c.408A>G (p.Thr136=) c.1447A>G (n.1447A>G) c.242A>G c.1167+143A>G c.2442A>G (p.Thr814=) c.3570A>G (p.Thr1190=) c.485A>G c.3750A>G (p.Thr1250=) c.3417A>G (p.Thr1139=) | |
7 | g.117627713A>T | CA457231455 | CFTR | c.3517+143A>T (n.3517+143A>T) c.*3374A>T (n.*3374A>T) c.3477A>T (p.Thr1159=) c.3660A>T (p.Thr1220=) c.*313A>T (n.*313A>T) c.*321A>T (n.*321A>T) c.*2035A>T (n.*2035A>T) c.3654A>T (p.Thr1218=) c.*3484A>T (n.*3484A>T) c.3234A>T (p.Thr1078=) c.408A>T (p.Thr136=) c.1447A>T (n.1447A>T) c.242A>T c.1167+143A>T c.2442A>T (p.Thr814=) c.3570A>T (p.Thr1190=) c.485A>T c.3750A>T (p.Thr1250=) c.3417A>T (p.Thr1139=) | |
7 | g.117627714_117627715del | CA2695199625 | CFTR | c.3517+144_3517+145del (n.3517+144_3517+145del) c.*3375_*3376del (n.*3375_*3376del) c.3478_3479del (p.Glu1160ArgfsTer?) c.3661_3662del (p.Glu1221ArgfsTer?) c.*314_*315del (n.*314_*315del) c.*322_*323del (n.*322_*323del) c.*2036_*2037del (n.*2036_*2037del) c.3655_3656del (p.Glu1219ArgfsTer?) c.*3485_*3486del (n.*3485_*3486del) c.3235_3236del (p.Glu1079ArgfsTer?) c.409_410del (p.Glu137ArgfsTer?) c.1448_1449del (n.1448_1449del) c.243_244del c.1167+144_1167+145del c.2443_2444del (p.Glu815ArgfsTer22) c.3478_3479del (p.Glu1160ArgfsTer22) c.3571_3572del (p.Glu1191ArgfsTer?) c.486_487del c.3751_3752del (p.Glu1251ArgfsTer?) c.3418_3419del (p.Glu1140ArgfsTer?) | ClinVar |
7 | g.117627714G>A | CA368997378 | CFTR | c.3517+144G>A (n.3517+144G>A) c.*3375G>A (n.*3375G>A) c.3478G>A (p.Glu1160Lys) c.3661G>A (p.Glu1221Lys) c.*314G>A (n.*314G>A) c.*322G>A (n.*322G>A) c.*2036G>A (n.*2036G>A) c.3655G>A (p.Glu1219Lys) c.*3485G>A (n.*3485G>A) c.3235G>A (p.Glu1079Lys) c.409G>A (p.Glu137Lys) c.1448G>A (n.1448G>A) c.243G>A c.1167+144G>A c.2443G>A (p.Glu815Lys) c.3571G>A (p.Glu1191Lys) c.486G>A c.3751G>A (p.Glu1251Lys) c.3418G>A (p.Glu1140Lys) | |
7 | g.117627714G>C | CA368997380 | CFTR | c.3517+144G>C (n.3517+144G>C) c.*3375G>C (n.*3375G>C) c.3478G>C (p.Glu1160Gln) c.3661G>C (p.Glu1221Gln) c.*314G>C (n.*314G>C) c.*322G>C (n.*322G>C) c.*2036G>C (n.*2036G>C) c.3655G>C (p.Glu1219Gln) c.*3485G>C (n.*3485G>C) c.3235G>C (p.Glu1079Gln) c.409G>C (p.Glu137Gln) c.1448G>C (n.1448G>C) c.243G>C c.1167+144G>C c.2443G>C (p.Glu815Gln) c.3571G>C (p.Glu1191Gln) c.486G>C c.3751G>C (p.Glu1251Gln) c.3418G>C (p.Glu1140Gln) | |
7 | g.117627714G>T | CA368997382 | CFTR | c.3517+144G>T (n.3517+144G>T) c.*3375G>T (n.*3375G>T) c.3478G>T (p.Glu1160Ter) c.3661G>T (p.Glu1221Ter) c.*314G>T (n.*314G>T) c.*322G>T (n.*322G>T) c.*2036G>T (n.*2036G>T) c.3655G>T (p.Glu1219Ter) c.*3485G>T (n.*3485G>T) c.3235G>T (p.Glu1079Ter) c.409G>T (p.Glu137Ter) c.1448G>T (n.1448G>T) c.243G>T c.1167+144G>T c.2443G>T (p.Glu815Ter) c.3571G>T (p.Glu1191Ter) c.486G>T c.3751G>T (p.Glu1251Ter) c.3418G>T (p.Glu1140Ter) | |
7 | g.117627715A>C | CA368997383 | CFTR | c.3517+145A>C (n.3517+145A>C) c.*3376A>C (n.*3376A>C) c.3479A>C (p.Glu1160Ala) c.3662A>C (p.Glu1221Ala) c.*315A>C (n.*315A>C) c.*323A>C (n.*323A>C) c.*2037A>C (n.*2037A>C) c.3656A>C (p.Glu1219Ala) c.*3486A>C (n.*3486A>C) c.3236A>C (p.Glu1079Ala) c.410A>C (p.Glu137Ala) c.1449A>C (n.1449A>C) c.244A>C c.1167+145A>C c.2444A>C (p.Glu815Ala) c.3572A>C (p.Glu1191Ala) c.487A>C c.3752A>C (p.Glu1251Ala) c.3419A>C (p.Glu1140Ala) | |
7 | g.117627715A>G | CA368997385 | CFTR | c.3517+145A>G (n.3517+145A>G) c.*3376A>G (n.*3376A>G) c.3479A>G (p.Glu1160Gly) c.3662A>G (p.Glu1221Gly) c.*315A>G (n.*315A>G) c.*323A>G (n.*323A>G) c.*2037A>G (n.*2037A>G) c.3656A>G (p.Glu1219Gly) c.*3486A>G (n.*3486A>G) c.3236A>G (p.Glu1079Gly) c.410A>G (p.Glu137Gly) c.1449A>G (n.1449A>G) c.244A>G c.1167+145A>G c.2444A>G (p.Glu815Gly) c.3572A>G (p.Glu1191Gly) c.487A>G c.3752A>G (p.Glu1251Gly) c.3419A>G (p.Glu1140Gly) | gnomAD v4 |
7 | g.117627715A>T | CA368997387 | CFTR | c.3517+145A>T (n.3517+145A>T) c.*3376A>T (n.*3376A>T) c.3479A>T (p.Glu1160Val) c.3662A>T (p.Glu1221Val) c.*315A>T (n.*315A>T) c.*323A>T (n.*323A>T) c.*2037A>T (n.*2037A>T) c.3656A>T (p.Glu1219Val) c.*3486A>T (n.*3486A>T) c.3236A>T (p.Glu1079Val) c.410A>T (p.Glu137Val) c.1449A>T (n.1449A>T) c.244A>T c.1167+145A>T c.2444A>T (p.Glu815Val) c.3572A>T (p.Glu1191Val) c.487A>T c.3752A>T (p.Glu1251Val) c.3419A>T (p.Glu1140Val) | |
7 | g.117627716A>C | CA368997389 | CFTR | c.3517+146A>C (n.3517+146A>C) c.*3377A>C (n.*3377A>C) c.3480A>C (p.Glu1160Asp) c.3663A>C (p.Glu1221Asp) c.*316A>C (n.*316A>C) c.*324A>C (n.*324A>C) c.*2038A>C (n.*2038A>C) c.3657A>C (p.Glu1219Asp) c.*3487A>C (n.*3487A>C) c.3237A>C (p.Glu1079Asp) c.411A>C (p.Glu137Asp) c.1450A>C (n.1450A>C) c.245A>C c.1167+146A>C c.2445A>C (p.Glu815Asp) c.3573A>C (p.Glu1191Asp) c.488A>C c.3753A>C (p.Glu1251Asp) c.3420A>C (p.Glu1140Asp) | |
7 | g.117627716A>G | CA457231457 | CFTR | c.3517+146A>G (n.3517+146A>G) c.*3377A>G (n.*3377A>G) c.3480A>G (p.Glu1160=) c.3663A>G (p.Glu1221=) c.*316A>G (n.*316A>G) c.*324A>G (n.*324A>G) c.*2038A>G (n.*2038A>G) c.3657A>G (p.Glu1219=) c.*3487A>G (n.*3487A>G) c.3237A>G (p.Glu1079=) c.411A>G (p.Glu137=) c.1450A>G (n.1450A>G) c.245A>G c.1167+146A>G c.2445A>G (p.Glu815=) c.3573A>G (p.Glu1191=) c.488A>G c.3753A>G (p.Glu1251=) c.3420A>G (p.Glu1140=) | |
7 | g.117627716A>T | CA368997391 | CFTR | c.3517+146A>T (n.3517+146A>T) c.*3377A>T (n.*3377A>T) c.3480A>T (p.Glu1160Asp) c.3663A>T (p.Glu1221Asp) c.*316A>T (n.*316A>T) c.*324A>T (n.*324A>T) c.*2038A>T (n.*2038A>T) c.3657A>T (p.Glu1219Asp) c.*3487A>T (n.*3487A>T) c.3237A>T (p.Glu1079Asp) c.411A>T (p.Glu137Asp) c.1450A>T (n.1450A>T) c.245A>T c.1167+146A>T c.2445A>T (p.Glu815Asp) c.3573A>T (p.Glu1191Asp) c.488A>T c.3753A>T (p.Glu1251Asp) c.3420A>T (p.Glu1140Asp) | |
7 | g.117627717G>A | CA368997393 | CFTR | c.3517+147G>A (n.3517+147G>A) c.*3378G>A (n.*3378G>A) c.3481G>A (p.Gly1161Ser) c.3664G>A (p.Gly1222Ser) c.*317G>A (n.*317G>A) c.*325G>A (n.*325G>A) c.*2039G>A (n.*2039G>A) c.3658G>A (p.Gly1220Ser) c.*3488G>A (n.*3488G>A) c.3238G>A (p.Gly1080Ser) c.412G>A (p.Gly138Ser) c.1451G>A (n.1451G>A) c.246G>A c.1167+147G>A c.2446G>A (p.Gly816Ser) c.3574G>A (p.Gly1192Ser) c.489G>A c.3754G>A (p.Gly1252Ser) c.3421G>A (p.Gly1141Ser) | gnomAD v4 |
7 | g.117627717G>C | CA368997394 | CFTR | c.3517+147G>C (n.3517+147G>C) c.*3378G>C (n.*3378G>C) c.3481G>C (p.Gly1161Arg) c.3664G>C (p.Gly1222Arg) c.*317G>C (n.*317G>C) c.*325G>C (n.*325G>C) c.*2039G>C (n.*2039G>C) c.3658G>C (p.Gly1220Arg) c.*3488G>C (n.*3488G>C) c.3238G>C (p.Gly1080Arg) c.412G>C (p.Gly138Arg) c.1451G>C (n.1451G>C) c.246G>C c.1167+147G>C c.2446G>C (p.Gly816Arg) c.3574G>C (p.Gly1192Arg) c.489G>C c.3754G>C (p.Gly1252Arg) c.3421G>C (p.Gly1141Arg) | |
7 | g.117627717G= | CA1737398706 | CFTR | c.3517+147G= (n.3517+147G=) c.*3378G= (n.*3378G=) c.3481G= (p.Gly1161=) c.3664G= (p.Gly1222=) c.*317G= (n.*317G=) c.*325G= (n.*325G=) c.*2039G= (n.*2039G=) c.3658G= (p.Gly1220=) c.*3488G= (n.*3488G=) c.3238G= (p.Gly1080=) c.412G= (p.Gly138=) c.1451G= (n.1451G=) c.246G= c.1167+147G= c.2446G= (p.Gly816=) c.3574G= (p.Gly1192=) c.489G= c.3754G= (p.Gly1252=) c.3421G= (p.Gly1141=) | |
7 | g.117627717G>T | CA368997396 | CFTR | c.3517+147G>T (n.3517+147G>T) c.*3378G>T (n.*3378G>T) c.3481G>T (p.Gly1161Cys) c.3664G>T (p.Gly1222Cys) c.*317G>T (n.*317G>T) c.*325G>T (n.*325G>T) c.*2039G>T (n.*2039G>T) c.3658G>T (p.Gly1220Cys) c.*3488G>T (n.*3488G>T) c.3238G>T (p.Gly1080Cys) c.412G>T (p.Gly138Cys) c.1451G>T (n.1451G>T) c.246G>T c.1167+147G>T c.2446G>T (p.Gly816Cys) c.3574G>T (p.Gly1192Cys) c.489G>T c.3754G>T (p.Gly1252Cys) c.3421G>T (p.Gly1141Cys) | dbSNP |
7 | g.117627717_117627718insTCAA | CA2695208383 | CFTR | c.3517+147_3517+148insTCAA (n.3517+147_3517+148insTCAA) c.*3378_*3379insTCAA (n.*3378_*3379insTCAA) c.3481_3482insTCAA (p.Gly1161ValfsTer?) c.3664_3665insTCAA (p.Gly1222ValfsTer?) c.*317_*318insTCAA (n.*317_*318insTCAA) c.*325_*326insTCAA (n.*325_*326insTCAA) c.*2039_*2040insTCAA (n.*2039_*2040insTCAA) c.3658_3659insTCAA (p.Gly1220ValfsTer?) c.*3488_*3489insTCAA (n.*3488_*3489insTCAA) c.3238_3239insTCAA (p.Gly1080ValfsTer?) c.412_413insTCAA (p.Gly138ValfsTer?) c.1451_1452insTCAA (n.1451_1452insTCAA) c.246_247insTCAA c.1167+147_1167+148insTCAA c.2446_2447insTCAA (p.Gly816ValfsTer23) c.3481_3482insTCAA (p.Gly1161ValfsTer23) c.3574_3575insTCAA (p.Gly1192ValfsTer?) c.489_490insTCAA c.3754_3755insTCAA (p.Gly1252ValfsTer?) c.3421_3422insTCAA (p.Gly1141ValfsTer?) | |
7 | g.117627718G>A | CA368997401 | CFTR | c.3517+148G>A (n.3517+148G>A) c.*3379G>A (n.*3379G>A) c.3482G>A (p.Gly1161Asp) c.3665G>A (p.Gly1222Asp) c.*318G>A (n.*318G>A) c.*326G>A (n.*326G>A) c.*2040G>A (n.*2040G>A) c.3659G>A (p.Gly1220Asp) c.*3489G>A (n.*3489G>A) c.3239G>A (p.Gly1080Asp) c.413G>A (p.Gly138Asp) c.1452G>A (n.1452G>A) c.247G>A c.1167+148G>A c.2447G>A (p.Gly816Asp) c.3575G>A (p.Gly1192Asp) c.490G>A c.3755G>A (p.Gly1252Asp) c.3422G>A (p.Gly1141Asp) | ClinVar dbSNP |
7 | g.117627718G>C | CA368997398 | CFTR | c.3517+148G>C (n.3517+148G>C) c.*3379G>C (n.*3379G>C) c.3482G>C (p.Gly1161Ala) c.3665G>C (p.Gly1222Ala) c.*318G>C (n.*318G>C) c.*326G>C (n.*326G>C) c.*2040G>C (n.*2040G>C) c.3659G>C (p.Gly1220Ala) c.*3489G>C (n.*3489G>C) c.3239G>C (p.Gly1080Ala) c.413G>C (p.Gly138Ala) c.1452G>C (n.1452G>C) c.247G>C c.1167+148G>C c.2447G>C (p.Gly816Ala) c.3575G>C (p.Gly1192Ala) c.490G>C c.3755G>C (p.Gly1252Ala) c.3422G>C (p.Gly1141Ala) | |
7 | g.117627718G= | CA1737398707 | CFTR | c.3517+148G= (n.3517+148G=) c.*3379G= (n.*3379G=) c.3482G= (p.Gly1161=) c.3665G= (p.Gly1222=) c.*318G= (n.*318G=) c.*326G= (n.*326G=) c.*2040G= (n.*2040G=) c.3659G= (p.Gly1220=) c.*3489G= (n.*3489G=) c.3239G= (p.Gly1080=) c.413G= (p.Gly138=) c.1452G= (n.1452G=) c.247G= c.1167+148G= c.2447G= (p.Gly816=) c.3575G= (p.Gly1192=) c.490G= c.3755G= (p.Gly1252=) c.3422G= (p.Gly1141=) | |
7 | g.117627718G>T | CA368997400 | CFTR | c.3517+148G>T (n.3517+148G>T) c.*3379G>T (n.*3379G>T) c.3482G>T (p.Gly1161Val) c.3665G>T (p.Gly1222Val) c.*318G>T (n.*318G>T) c.*326G>T (n.*326G>T) c.*2040G>T (n.*2040G>T) c.3659G>T (p.Gly1220Val) c.*3489G>T (n.*3489G>T) c.3239G>T (p.Gly1080Val) c.413G>T (p.Gly138Val) c.1452G>T (n.1452G>T) c.247G>T c.1167+148G>T c.2447G>T (p.Gly816Val) c.3575G>T (p.Gly1192Val) c.490G>T c.3755G>T (p.Gly1252Val) c.3422G>T (p.Gly1141Val) | gnomAD v4 |
7 | g.117627719T>A | CA457231458 | CFTR | c.3517+149T>A (n.3517+149T>A) c.*3380T>A (n.*3380T>A) c.3483T>A (p.Gly1161=) c.3666T>A (p.Gly1222=) c.*319T>A (n.*319T>A) c.*327T>A (n.*327T>A) c.*2041T>A (n.*2041T>A) c.3660T>A (p.Gly1220=) c.*3490T>A (n.*3490T>A) c.3240T>A (p.Gly1080=) c.414T>A (p.Gly138=) c.1453T>A (n.1453T>A) c.248T>A c.1167+149T>A c.2448T>A (p.Gly816=) c.3576T>A (p.Gly1192=) c.491T>A c.3756T>A (p.Gly1252=) c.3423T>A (p.Gly1141=) | |
7 | g.117627719T>C | CA457231459 | CFTR | c.3517+149T>C (n.3517+149T>C) c.*3380T>C (n.*3380T>C) c.3483T>C (p.Gly1161=) c.3666T>C (p.Gly1222=) c.*319T>C (n.*319T>C) c.*327T>C (n.*327T>C) c.*2041T>C (n.*2041T>C) c.3660T>C (p.Gly1220=) c.*3490T>C (n.*3490T>C) c.3240T>C (p.Gly1080=) c.414T>C (p.Gly138=) c.1453T>C (n.1453T>C) c.248T>C c.1167+149T>C c.2448T>C (p.Gly816=) c.3576T>C (p.Gly1192=) c.491T>C c.3756T>C (p.Gly1252=) c.3423T>C (p.Gly1141=) | ClinVar |
7 | g.117627719T>G | CA457231460 | CFTR | c.3517+149T>G (n.3517+149T>G) c.*3380T>G (n.*3380T>G) c.3483T>G (p.Gly1161=) c.3666T>G (p.Gly1222=) c.*319T>G (n.*319T>G) c.*327T>G (n.*327T>G) c.*2041T>G (n.*2041T>G) c.3660T>G (p.Gly1220=) c.*3490T>G (n.*3490T>G) c.3240T>G (p.Gly1080=) c.414T>G (p.Gly138=) c.1453T>G (n.1453T>G) c.248T>G c.1167+149T>G c.2448T>G (p.Gly816=) c.3576T>G (p.Gly1192=) c.491T>G c.3756T>G (p.Gly1252=) c.3423T>G (p.Gly1141=) | |
7 | g.117627720G>A | CA368997403 | CFTR | c.3517+150G>A (n.3517+150G>A) c.*3381G>A (n.*3381G>A) c.3484G>A (p.Gly1162Arg) c.3667G>A (p.Gly1223Arg) c.*320G>A (n.*320G>A) c.*328G>A (n.*328G>A) c.*2042G>A (n.*2042G>A) c.3661G>A (p.Gly1221Arg) c.*3491G>A (n.*3491G>A) c.3241G>A (p.Gly1081Arg) c.415G>A (p.Gly139Arg) c.1454G>A (n.1454G>A) c.249G>A c.1167+150G>A c.2449G>A (p.Gly817Arg) c.3577G>A (p.Gly1193Arg) c.492G>A c.3757G>A (p.Gly1253Arg) c.3424G>A (p.Gly1142Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627720G>C | CA368997404 | CFTR | c.3517+150G>C (n.3517+150G>C) c.*3381G>C (n.*3381G>C) c.3484G>C (p.Gly1162Arg) c.3667G>C (p.Gly1223Arg) c.*320G>C (n.*320G>C) c.*328G>C (n.*328G>C) c.*2042G>C (n.*2042G>C) c.3661G>C (p.Gly1221Arg) c.*3491G>C (n.*3491G>C) c.3241G>C (p.Gly1081Arg) c.415G>C (p.Gly139Arg) c.1454G>C (n.1454G>C) c.249G>C c.1167+150G>C c.2449G>C (p.Gly817Arg) c.3577G>C (p.Gly1193Arg) c.492G>C c.3757G>C (p.Gly1253Arg) c.3424G>C (p.Gly1142Arg) | |
7 | g.117627720G= | CA1737398708 | CFTR | c.3517+150G= (n.3517+150G=) c.*3381G= (n.*3381G=) c.3484G= (p.Gly1162=) c.3667G= (p.Gly1223=) c.*320G= (n.*320G=) c.*328G= (n.*328G=) c.*2042G= (n.*2042G=) c.3661G= (p.Gly1221=) c.*3491G= (n.*3491G=) c.3241G= (p.Gly1081=) c.415G= (p.Gly139=) c.1454G= (n.1454G=) c.249G= c.1167+150G= c.2449G= (p.Gly817=) c.3577G= (p.Gly1193=) c.492G= c.3757G= (p.Gly1253=) c.3424G= (p.Gly1142=) | |
7 | g.117627720G>T | CA368997406 | CFTR | c.3517+150G>T (n.3517+150G>T) c.*3381G>T (n.*3381G>T) c.3484G>T (p.Gly1162Ter) c.3667G>T (p.Gly1223Ter) c.*320G>T (n.*320G>T) c.*328G>T (n.*328G>T) c.*2042G>T (n.*2042G>T) c.3661G>T (p.Gly1221Ter) c.*3491G>T (n.*3491G>T) c.3241G>T (p.Gly1081Ter) c.415G>T (p.Gly139Ter) c.1454G>T (n.1454G>T) c.249G>T c.1167+150G>T c.2449G>T (p.Gly817Ter) c.3577G>T (p.Gly1193Ter) c.492G>T c.3757G>T (p.Gly1253Ter) c.3424G>T (p.Gly1142Ter) | |
7 | g.117627721G>A | CA368997408 | CFTR | c.3517+151G>A (n.3517+151G>A) c.*3382G>A (n.*3382G>A) c.3485G>A (p.Gly1162Glu) c.3668G>A (p.Gly1223Glu) c.*321G>A (n.*321G>A) c.*329G>A (n.*329G>A) c.*2043G>A (n.*2043G>A) c.3662G>A (p.Gly1221Glu) c.*3492G>A (n.*3492G>A) c.3242G>A (p.Gly1081Glu) c.416G>A (p.Gly139Glu) c.1455G>A (n.1455G>A) c.250G>A c.1167+151G>A c.2450G>A (p.Gly817Glu) c.3578G>A (p.Gly1193Glu) c.493G>A c.3758G>A (p.Gly1253Glu) c.3425G>A (p.Gly1142Glu) | |
7 | g.117627721G>C | CA368997410 | CFTR | c.3517+151G>C (n.3517+151G>C) c.*3382G>C (n.*3382G>C) c.3485G>C (p.Gly1162Ala) c.3668G>C (p.Gly1223Ala) c.*321G>C (n.*321G>C) c.*329G>C (n.*329G>C) c.*2043G>C (n.*2043G>C) c.3662G>C (p.Gly1221Ala) c.*3492G>C (n.*3492G>C) c.3242G>C (p.Gly1081Ala) c.416G>C (p.Gly139Ala) c.1455G>C (n.1455G>C) c.250G>C c.1167+151G>C c.2450G>C (p.Gly817Ala) c.3578G>C (p.Gly1193Ala) c.493G>C c.3758G>C (p.Gly1253Ala) c.3425G>C (p.Gly1142Ala) | |
7 | g.117627721G>T | CA368997412 | CFTR | c.3517+151G>T (n.3517+151G>T) c.*3382G>T (n.*3382G>T) c.3485G>T (p.Gly1162Val) c.3668G>T (p.Gly1223Val) c.*321G>T (n.*321G>T) c.*329G>T (n.*329G>T) c.*2043G>T (n.*2043G>T) c.3662G>T (p.Gly1221Val) c.*3492G>T (n.*3492G>T) c.3242G>T (p.Gly1081Val) c.416G>T (p.Gly139Val) c.1455G>T (n.1455G>T) c.250G>T c.1167+151G>T c.2450G>T (p.Gly817Val) c.3578G>T (p.Gly1193Val) c.493G>T c.3758G>T (p.Gly1253Val) c.3425G>T (p.Gly1142Val) | |
7 | g.117627722A>C | CA457231461 | CFTR | c.3517+152A>C (n.3517+152A>C) c.*3383A>C (n.*3383A>C) c.3486A>C (p.Gly1162=) c.3669A>C (p.Gly1223=) c.*322A>C (n.*322A>C) c.*330A>C (n.*330A>C) c.*2044A>C (n.*2044A>C) c.3663A>C (p.Gly1221=) c.*3493A>C (n.*3493A>C) c.3243A>C (p.Gly1081=) c.417A>C (p.Gly139=) c.1456A>C (n.1456A>C) c.251A>C c.1167+152A>C c.2451A>C (p.Gly817=) c.3579A>C (p.Gly1193=) c.494A>C c.3759A>C (p.Gly1253=) c.3426A>C (p.Gly1142=) | |
7 | g.117627722A>G | CA457231462 | CFTR | c.3517+152A>G (n.3517+152A>G) c.*3383A>G (n.*3383A>G) c.3486A>G (p.Gly1162=) c.3669A>G (p.Gly1223=) c.*322A>G (n.*322A>G) c.*330A>G (n.*330A>G) c.*2044A>G (n.*2044A>G) c.3663A>G (p.Gly1221=) c.*3493A>G (n.*3493A>G) c.3243A>G (p.Gly1081=) c.417A>G (p.Gly139=) c.1456A>G (n.1456A>G) c.251A>G c.1167+152A>G c.2451A>G (p.Gly817=) c.3579A>G (p.Gly1193=) c.494A>G c.3759A>G (p.Gly1253=) c.3426A>G (p.Gly1142=) | |
7 | g.117627722A>T | CA457231463 | CFTR | c.3517+152A>T (n.3517+152A>T) c.*3383A>T (n.*3383A>T) c.3486A>T (p.Gly1162=) c.3669A>T (p.Gly1223=) c.*322A>T (n.*322A>T) c.*330A>T (n.*330A>T) c.*2044A>T (n.*2044A>T) c.3663A>T (p.Gly1221=) c.*3493A>T (n.*3493A>T) c.3243A>T (p.Gly1081=) c.417A>T (p.Gly139=) c.1456A>T (n.1456A>T) c.251A>T c.1167+152A>T c.2451A>T (p.Gly817=) c.3579A>T (p.Gly1193=) c.494A>T c.3759A>T (p.Gly1253=) c.3426A>T (p.Gly1142=) | |
7 | g.117627723A>C | CA368997414 | CFTR | c.3517+153A>C (n.3517+153A>C) c.*3384A>C (n.*3384A>C) c.3487A>C (p.Asn1163His) c.3670A>C (p.Asn1224His) c.*323A>C (n.*323A>C) c.*331A>C (n.*331A>C) c.*2045A>C (n.*2045A>C) c.3664A>C (p.Asn1222His) c.*3494A>C (n.*3494A>C) c.3244A>C (p.Asn1082His) c.418A>C (p.Asn140His) c.1457A>C (n.1457A>C) c.252A>C c.1167+153A>C c.2452A>C (p.Asn818His) c.3580A>C (p.Asn1194His) c.495A>C c.3760A>C (p.Asn1254His) c.3427A>C (p.Asn1143His) | gnomAD v4 |
7 | g.117627723A>G | CA368997416 | CFTR | c.3517+153A>G (n.3517+153A>G) c.*3384A>G (n.*3384A>G) c.3487A>G (p.Asn1163Asp) c.3670A>G (p.Asn1224Asp) c.*323A>G (n.*323A>G) c.*331A>G (n.*331A>G) c.*2045A>G (n.*2045A>G) c.3664A>G (p.Asn1222Asp) c.*3494A>G (n.*3494A>G) c.3244A>G (p.Asn1082Asp) c.418A>G (p.Asn140Asp) c.1457A>G (n.1457A>G) c.252A>G c.1167+153A>G c.2452A>G (p.Asn818Asp) c.3580A>G (p.Asn1194Asp) c.495A>G c.3760A>G (p.Asn1254Asp) c.3427A>G (p.Asn1143Asp) | |
7 | g.117627723A>T | CA368997418 | CFTR | c.3517+153A>T (n.3517+153A>T) c.*3384A>T (n.*3384A>T) c.3487A>T (p.Asn1163Tyr) c.3670A>T (p.Asn1224Tyr) c.*323A>T (n.*323A>T) c.*331A>T (n.*331A>T) c.*2045A>T (n.*2045A>T) c.3664A>T (p.Asn1222Tyr) c.*3494A>T (n.*3494A>T) c.3244A>T (p.Asn1082Tyr) c.418A>T (p.Asn140Tyr) c.1457A>T (n.1457A>T) c.252A>T c.1167+153A>T c.2452A>T (p.Asn818Tyr) c.3580A>T (p.Asn1194Tyr) c.495A>T c.3760A>T (p.Asn1254Tyr) c.3427A>T (p.Asn1143Tyr) | |
7 | g.117627724A>C | CA368997419 | CFTR | c.3517+154A>C (n.3517+154A>C) c.*3385A>C (n.*3385A>C) c.3488A>C (p.Asn1163Thr) c.3671A>C (p.Asn1224Thr) c.*324A>C (n.*324A>C) c.*332A>C (n.*332A>C) c.*2046A>C (n.*2046A>C) c.3665A>C (p.Asn1222Thr) c.*3495A>C (n.*3495A>C) c.3245A>C (p.Asn1082Thr) c.419A>C (p.Asn140Thr) c.1458A>C (n.1458A>C) c.253A>C c.1167+154A>C c.2453A>C (p.Asn818Thr) c.3581A>C (p.Asn1194Thr) c.496A>C c.3761A>C (p.Asn1254Thr) c.3428A>C (p.Asn1143Thr) | |
7 | g.117627724A>G | CA368997421 | CFTR | c.3517+154A>G (n.3517+154A>G) c.*3385A>G (n.*3385A>G) c.3488A>G (p.Asn1163Ser) c.3671A>G (p.Asn1224Ser) c.*324A>G (n.*324A>G) c.*332A>G (n.*332A>G) c.*2046A>G (n.*2046A>G) c.3665A>G (p.Asn1222Ser) c.*3495A>G (n.*3495A>G) c.3245A>G (p.Asn1082Ser) c.419A>G (p.Asn140Ser) c.1458A>G (n.1458A>G) c.253A>G c.1167+154A>G c.2453A>G (p.Asn818Ser) c.3581A>G (p.Asn1194Ser) c.496A>G c.3761A>G (p.Asn1254Ser) c.3428A>G (p.Asn1143Ser) | |
7 | g.117627724A>T | CA368997423 | CFTR | c.3517+154A>T (n.3517+154A>T) c.*3385A>T (n.*3385A>T) c.3488A>T (p.Asn1163Ile) c.3671A>T (p.Asn1224Ile) c.*324A>T (n.*324A>T) c.*332A>T (n.*332A>T) c.*2046A>T (n.*2046A>T) c.3665A>T (p.Asn1222Ile) c.*3495A>T (n.*3495A>T) c.3245A>T (p.Asn1082Ile) c.419A>T (p.Asn140Ile) c.1458A>T (n.1458A>T) c.253A>T c.1167+154A>T c.2453A>T (p.Asn818Ile) c.3581A>T (p.Asn1194Ile) c.496A>T c.3761A>T (p.Asn1254Ile) c.3428A>T (p.Asn1143Ile) | |
7 | g.117627725T>A | CA4451513 | CFTR | c.3517+155T>A (n.3517+155T>A) c.*3386T>A (n.*3386T>A) c.3489T>A (p.Asn1163Lys) c.3672T>A (p.Asn1224Lys) c.*325T>A (n.*325T>A) c.*333T>A (n.*333T>A) c.*2047T>A (n.*2047T>A) c.3666T>A (p.Asn1222Lys) c.*3496T>A (n.*3496T>A) c.3246T>A (p.Asn1082Lys) c.420T>A (p.Asn140Lys) c.1459T>A (n.1459T>A) c.254T>A c.1167+155T>A c.2454T>A (p.Asn818Lys) c.3582T>A (p.Asn1194Lys) c.497T>A c.3762T>A (p.Asn1254Lys) c.3429T>A (p.Asn1143Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627725T>C | CA457231464 | CFTR | c.3517+155T>C (n.3517+155T>C) c.*3386T>C (n.*3386T>C) c.3489T>C (p.Asn1163=) c.3672T>C (p.Asn1224=) c.*325T>C (n.*325T>C) c.*333T>C (n.*333T>C) c.*2047T>C (n.*2047T>C) c.3666T>C (p.Asn1222=) c.*3496T>C (n.*3496T>C) c.3246T>C (p.Asn1082=) c.420T>C (p.Asn140=) c.1459T>C (n.1459T>C) c.254T>C c.1167+155T>C c.2454T>C (p.Asn818=) c.3582T>C (p.Asn1194=) c.497T>C c.3762T>C (p.Asn1254=) c.3429T>C (p.Asn1143=) | |
7 | g.117627725T>G | CA368997426 | CFTR | c.3517+155T>G (n.3517+155T>G) c.*3386T>G (n.*3386T>G) c.3489T>G (p.Asn1163Lys) c.3672T>G (p.Asn1224Lys) c.*325T>G (n.*325T>G) c.*333T>G (n.*333T>G) c.*2047T>G (n.*2047T>G) c.3666T>G (p.Asn1222Lys) c.*3496T>G (n.*3496T>G) c.3246T>G (p.Asn1082Lys) c.420T>G (p.Asn140Lys) c.1459T>G (n.1459T>G) c.254T>G c.1167+155T>G c.2454T>G (p.Asn818Lys) c.3582T>G (p.Asn1194Lys) c.497T>G c.3762T>G (p.Asn1254Lys) c.3429T>G (p.Asn1143Lys) | |
7 | g.117627725T= | CA1737398709 | CFTR | c.3517+155T= (n.3517+155T=) c.*3386T= (n.*3386T=) c.3489T= (p.Asn1163=) c.3672T= (p.Asn1224=) c.*325T= (n.*325T=) c.*333T= (n.*333T=) c.*2047T= (n.*2047T=) c.3666T= (p.Asn1222=) c.*3496T= (n.*3496T=) c.3246T= (p.Asn1082=) c.420T= (p.Asn140=) c.1459T= (n.1459T=) c.254T= c.1167+155T= c.2454T= (p.Asn818=) c.3582T= (p.Asn1194=) c.497T= c.3762T= (p.Asn1254=) c.3429T= (p.Asn1143=) | |
7 | g.117627725dup | CA2695199626 | CFTR | c.3517+155dup (n.3517+155dup) c.*3386dup (n.*3386dup) c.3489dup (p.Ala1164CysfsTer?) c.3672dup (p.Ala1225CysfsTer?) c.*325dup (n.*325dup) c.*333dup (n.*333dup) c.*2047dup (n.*2047dup) c.3666dup (p.Ala1223CysfsTer?) c.*3496dup (n.*3496dup) c.3246dup (p.Ala1083CysfsTer?) c.420dup (p.Ala141CysfsTer?) c.1459dup (n.1459dup) c.254dup c.1167+155dup c.2454dup (p.Ala819CysfsTer19) c.3489dup (p.Ala1164CysfsTer19) c.3582dup (p.Ala1195CysfsTer?) c.497dup c.3762dup (p.Ala1255CysfsTer?) c.3429dup (p.Ala1144CysfsTer?) | ClinVar |
7 | g.117627726G>A | CA368997428 | CFTR | c.3517+156G>A (n.3517+156G>A) c.*3387G>A (n.*3387G>A) c.3490G>A (p.Ala1164Thr) c.3673G>A (p.Ala1225Thr) c.*326G>A (n.*326G>A) c.*334G>A (n.*334G>A) c.*2048G>A (n.*2048G>A) c.3667G>A (p.Ala1223Thr) c.*3497G>A (n.*3497G>A) c.3247G>A (p.Ala1083Thr) c.421G>A (p.Ala141Thr) c.1460G>A (n.1460G>A) c.255G>A c.1167+156G>A c.2455G>A (p.Ala819Thr) c.3583G>A (p.Ala1195Thr) c.498G>A c.3763G>A (p.Ala1255Thr) c.3430G>A (p.Ala1144Thr) | gnomAD v4 |
7 | g.117627726G>C | CA368997430 | CFTR | c.3517+156G>C (n.3517+156G>C) c.*3387G>C (n.*3387G>C) c.3490G>C (p.Ala1164Pro) c.3673G>C (p.Ala1225Pro) c.*326G>C (n.*326G>C) c.*334G>C (n.*334G>C) c.*2048G>C (n.*2048G>C) c.3667G>C (p.Ala1223Pro) c.*3497G>C (n.*3497G>C) c.3247G>C (p.Ala1083Pro) c.421G>C (p.Ala141Pro) c.1460G>C (n.1460G>C) c.255G>C c.1167+156G>C c.2455G>C (p.Ala819Pro) c.3583G>C (p.Ala1195Pro) c.498G>C c.3763G>C (p.Ala1255Pro) c.3430G>C (p.Ala1144Pro) | |
7 | g.117627726G>T | CA368997432 | CFTR | c.3517+156G>T (n.3517+156G>T) c.*3387G>T (n.*3387G>T) c.3490G>T (p.Ala1164Ser) c.3673G>T (p.Ala1225Ser) c.*326G>T (n.*326G>T) c.*334G>T (n.*334G>T) c.*2048G>T (n.*2048G>T) c.3667G>T (p.Ala1223Ser) c.*3497G>T (n.*3497G>T) c.3247G>T (p.Ala1083Ser) c.421G>T (p.Ala141Ser) c.1460G>T (n.1460G>T) c.255G>T c.1167+156G>T c.2455G>T (p.Ala819Ser) c.3583G>T (p.Ala1195Ser) c.498G>T c.3763G>T (p.Ala1255Ser) c.3430G>T (p.Ala1144Ser) | |
7 | g.117627727C>A | CA368997434 | CFTR | c.3517+157C>A (n.3517+157C>A) c.*3388C>A (n.*3388C>A) c.3491C>A (p.Ala1164Asp) c.3674C>A (p.Ala1225Asp) c.*327C>A (n.*327C>A) c.*335C>A (n.*335C>A) c.*2049C>A (n.*2049C>A) c.3668C>A (p.Ala1223Asp) c.*3498C>A (n.*3498C>A) c.3248C>A (p.Ala1083Asp) c.422C>A (p.Ala141Asp) c.1461C>A (n.1461C>A) c.256C>A c.1167+157C>A c.2456C>A (p.Ala819Asp) c.3584C>A (p.Ala1195Asp) c.499C>A c.3764C>A (p.Ala1255Asp) c.3431C>A (p.Ala1144Asp) | |
7 | g.117627727C= | CA1737398710 | CFTR | c.3517+157C= (n.3517+157C=) c.*3388C= (n.*3388C=) c.3491C= (p.Ala1164=) c.3674C= (p.Ala1225=) c.*327C= (n.*327C=) c.*335C= (n.*335C=) c.*2049C= (n.*2049C=) c.3668C= (p.Ala1223=) c.*3498C= (n.*3498C=) c.3248C= (p.Ala1083=) c.422C= (p.Ala141=) c.1461C= (n.1461C=) c.256C= c.1167+157C= c.2456C= (p.Ala819=) c.3584C= (p.Ala1195=) c.499C= c.3764C= (p.Ala1255=) c.3431C= (p.Ala1144=) | |
7 | g.117627727C>G | CA368997436 | CFTR | c.3517+157C>G (n.3517+157C>G) c.*3388C>G (n.*3388C>G) c.3491C>G (p.Ala1164Gly) c.3674C>G (p.Ala1225Gly) c.*327C>G (n.*327C>G) c.*335C>G (n.*335C>G) c.*2049C>G (n.*2049C>G) c.3668C>G (p.Ala1223Gly) c.*3498C>G (n.*3498C>G) c.3248C>G (p.Ala1083Gly) c.422C>G (p.Ala141Gly) c.1461C>G (n.1461C>G) c.256C>G c.1167+157C>G c.2456C>G (p.Ala819Gly) c.3584C>G (p.Ala1195Gly) c.499C>G c.3764C>G (p.Ala1255Gly) c.3431C>G (p.Ala1144Gly) | gnomAD v4 |
7 | g.117627727C>T | CA4451514 | CFTR | c.3517+157C>T (n.3517+157C>T) c.*3388C>T (n.*3388C>T) c.3491C>T (p.Ala1164Val) c.3674C>T (p.Ala1225Val) c.*327C>T (n.*327C>T) c.*335C>T (n.*335C>T) c.*2049C>T (n.*2049C>T) c.3668C>T (p.Ala1223Val) c.*3498C>T (n.*3498C>T) c.3248C>T (p.Ala1083Val) c.422C>T (p.Ala141Val) c.1461C>T (n.1461C>T) c.256C>T c.1167+157C>T c.2456C>T (p.Ala819Val) c.3584C>T (p.Ala1195Val) c.499C>T c.3764C>T (p.Ala1255Val) c.3431C>T (p.Ala1144Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627728C>A | CA457231467 | CFTR | c.3517+158C>A (n.3517+158C>A) c.*3389C>A (n.*3389C>A) c.3492C>A (p.Ala1164=) c.3675C>A (p.Ala1225=) c.*328C>A (n.*328C>A) c.*336C>A (n.*336C>A) c.*2050C>A (n.*2050C>A) c.3669C>A (p.Ala1223=) c.*3499C>A (n.*3499C>A) c.3249C>A (p.Ala1083=) c.423C>A (p.Ala141=) c.1462C>A (n.1462C>A) c.257C>A c.1167+158C>A c.2457C>A (p.Ala819=) c.3585C>A (p.Ala1195=) c.500C>A c.3765C>A (p.Ala1255=) c.3432C>A (p.Ala1144=) | gnomAD v4 |
7 | g.117627728C>G | CA457231465 | CFTR | c.3517+158C>G (n.3517+158C>G) c.*3389C>G (n.*3389C>G) c.3492C>G (p.Ala1164=) c.3675C>G (p.Ala1225=) c.*328C>G (n.*328C>G) c.*336C>G (n.*336C>G) c.*2050C>G (n.*2050C>G) c.3669C>G (p.Ala1223=) c.*3499C>G (n.*3499C>G) c.3249C>G (p.Ala1083=) c.423C>G (p.Ala141=) c.1462C>G (n.1462C>G) c.257C>G c.1167+158C>G c.2457C>G (p.Ala819=) c.3585C>G (p.Ala1195=) c.500C>G c.3765C>G (p.Ala1255=) c.3432C>G (p.Ala1144=) | |
7 | g.117627728C>T | CA457231466 | CFTR | c.3517+158C>T (n.3517+158C>T) c.*3389C>T (n.*3389C>T) c.3492C>T (p.Ala1164=) c.3675C>T (p.Ala1225=) c.*328C>T (n.*328C>T) c.*336C>T (n.*336C>T) c.*2050C>T (n.*2050C>T) c.3669C>T (p.Ala1223=) c.*3499C>T (n.*3499C>T) c.3249C>T (p.Ala1083=) c.423C>T (p.Ala141=) c.1462C>T (n.1462C>T) c.257C>T c.1167+158C>T c.2457C>T (p.Ala819=) c.3585C>T (p.Ala1195=) c.500C>T c.3765C>T (p.Ala1255=) c.3432C>T (p.Ala1144=) | |
7 | g.117627729A>C | CA368997440 | CFTR | c.3517+159A>C (n.3517+159A>C) c.*3390A>C (n.*3390A>C) c.3493A>C (p.Ile1165Leu) c.3676A>C (p.Ile1226Leu) c.*329A>C (n.*329A>C) c.*337A>C (n.*337A>C) c.*2051A>C (n.*2051A>C) c.3670A>C (p.Ile1224Leu) c.*3500A>C (n.*3500A>C) c.3250A>C (p.Ile1084Leu) c.424A>C (p.Ile142Leu) c.1463A>C (n.1463A>C) c.258A>C c.1167+159A>C c.2458A>C (p.Ile820Leu) c.3586A>C (p.Ile1196Leu) c.501A>C c.3766A>C (p.Ile1256Leu) c.3433A>C (p.Ile1145Leu) | |
7 | g.117627729A>G | CA368997439 | CFTR | c.3517+159A>G (n.3517+159A>G) c.*3390A>G (n.*3390A>G) c.3493A>G (p.Ile1165Val) c.3676A>G (p.Ile1226Val) c.*329A>G (n.*329A>G) c.*337A>G (n.*337A>G) c.*2051A>G (n.*2051A>G) c.3670A>G (p.Ile1224Val) c.*3500A>G (n.*3500A>G) c.3250A>G (p.Ile1084Val) c.424A>G (p.Ile142Val) c.1463A>G (n.1463A>G) c.258A>G c.1167+159A>G c.2458A>G (p.Ile820Val) c.3586A>G (p.Ile1196Val) c.501A>G c.3766A>G (p.Ile1256Val) c.3433A>G (p.Ile1145Val) | ClinVar dbSNP gnomAD v4 |
7 | g.117627729A>T | CA368997437 | CFTR | c.3517+159A>T (n.3517+159A>T) c.*3390A>T (n.*3390A>T) c.3493A>T (p.Ile1165Leu) c.3676A>T (p.Ile1226Leu) c.*329A>T (n.*329A>T) c.*337A>T (n.*337A>T) c.*2051A>T (n.*2051A>T) c.3670A>T (p.Ile1224Leu) c.*3500A>T (n.*3500A>T) c.3250A>T (p.Ile1084Leu) c.424A>T (p.Ile142Leu) c.1463A>T (n.1463A>T) c.258A>T c.1167+159A>T c.2458A>T (p.Ile820Leu) c.3586A>T (p.Ile1196Leu) c.501A>T c.3766A>T (p.Ile1256Leu) c.3433A>T (p.Ile1145Leu) | gnomAD v4 |
7 | g.117627730T>A | CA368997442 | CFTR | c.3517+160T>A (n.3517+160T>A) c.*3391T>A (n.*3391T>A) c.3494T>A (p.Ile1165Lys) c.3677T>A (p.Ile1226Lys) c.*330T>A (n.*330T>A) c.*338T>A (n.*338T>A) c.*2052T>A (n.*2052T>A) c.3671T>A (p.Ile1224Lys) c.*3501T>A (n.*3501T>A) c.3251T>A (p.Ile1084Lys) c.425T>A (p.Ile142Lys) c.1464T>A (n.1464T>A) c.259T>A c.1167+160T>A c.2459T>A (p.Ile820Lys) c.3587T>A (p.Ile1196Lys) c.502T>A c.3767T>A (p.Ile1256Lys) c.3434T>A (p.Ile1145Lys) | |
7 | g.117627730T>C | CA368997444 | CFTR | c.3517+160T>C (n.3517+160T>C) c.*3391T>C (n.*3391T>C) c.3494T>C (p.Ile1165Thr) c.3677T>C (p.Ile1226Thr) c.*330T>C (n.*330T>C) c.*338T>C (n.*338T>C) c.*2052T>C (n.*2052T>C) c.3671T>C (p.Ile1224Thr) c.*3501T>C (n.*3501T>C) c.3251T>C (p.Ile1084Thr) c.425T>C (p.Ile142Thr) c.1464T>C (n.1464T>C) c.259T>C c.1167+160T>C c.2459T>C (p.Ile820Thr) c.3587T>C (p.Ile1196Thr) c.502T>C c.3767T>C (p.Ile1256Thr) c.3434T>C (p.Ile1145Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627730T>G | CA16040180 | CFTR | c.3517+160T>G (n.3517+160T>G) c.*3391T>G (n.*3391T>G) c.3494T>G (p.Ile1165Arg) c.3677T>G (p.Ile1226Arg) c.*330T>G (n.*330T>G) c.*338T>G (n.*338T>G) c.*2052T>G (n.*2052T>G) c.3671T>G (p.Ile1224Arg) c.*3501T>G (n.*3501T>G) c.3251T>G (p.Ile1084Arg) c.425T>G (p.Ile142Arg) c.1464T>G (n.1464T>G) c.259T>G c.1167+160T>G c.2459T>G (p.Ile820Arg) c.3587T>G (p.Ile1196Arg) c.502T>G c.3767T>G (p.Ile1256Arg) c.3434T>G (p.Ile1145Arg) | |
7 | g.117627730T= | CA1737398711 | CFTR | c.3517+160T= (n.3517+160T=) c.*3391T= (n.*3391T=) c.3494T= (p.Ile1165=) c.3677T= (p.Ile1226=) c.*330T= (n.*330T=) c.*338T= (n.*338T=) c.*2052T= (n.*2052T=) c.3671T= (p.Ile1224=) c.*3501T= (n.*3501T=) c.3251T= (p.Ile1084=) c.425T= (p.Ile142=) c.1464T= (n.1464T=) c.259T= c.1167+160T= c.2459T= (p.Ile820=) c.3587T= (p.Ile1196=) c.502T= c.3767T= (p.Ile1256=) c.3434T= (p.Ile1145=) | |
7 | g.117627731A>C | CA457231469 | CFTR | c.3517+161A>C (n.3517+161A>C) c.*3392A>C (n.*3392A>C) c.3495A>C (p.Ile1165=) c.3678A>C (p.Ile1226=) c.*331A>C (n.*331A>C) c.*339A>C (n.*339A>C) c.*2053A>C (n.*2053A>C) c.3672A>C (p.Ile1224=) c.*3502A>C (n.*3502A>C) c.3252A>C (p.Ile1084=) c.426A>C (p.Ile142=) c.1465A>C (n.1465A>C) c.260A>C c.1167+161A>C c.2460A>C (p.Ile820=) c.3588A>C (p.Ile1196=) c.503A>C c.3768A>C (p.Ile1256=) c.3435A>C (p.Ile1145=) | |
7 | g.117627731A>G | CA368997447 | CFTR | c.3517+161A>G (n.3517+161A>G) c.*3392A>G (n.*3392A>G) c.3495A>G (p.Ile1165Met) c.3678A>G (p.Ile1226Met) c.*331A>G (n.*331A>G) c.*339A>G (n.*339A>G) c.*2053A>G (n.*2053A>G) c.3672A>G (p.Ile1224Met) c.*3502A>G (n.*3502A>G) c.3252A>G (p.Ile1084Met) c.426A>G (p.Ile142Met) c.1465A>G (n.1465A>G) c.260A>G c.1167+161A>G c.2460A>G (p.Ile820Met) c.3588A>G (p.Ile1196Met) c.503A>G c.3768A>G (p.Ile1256Met) c.3435A>G (p.Ile1145Met) | |
7 | g.117627731A>T | CA457231468 | CFTR | c.3517+161A>T (n.3517+161A>T) c.*3392A>T (n.*3392A>T) c.3495A>T (p.Ile1165=) c.3678A>T (p.Ile1226=) c.*331A>T (n.*331A>T) c.*339A>T (n.*339A>T) c.*2053A>T (n.*2053A>T) c.3672A>T (p.Ile1224=) c.*3502A>T (n.*3502A>T) c.3252A>T (p.Ile1084=) c.426A>T (p.Ile142=) c.1465A>T (n.1465A>T) c.260A>T c.1167+161A>T c.2460A>T (p.Ile820=) c.3588A>T (p.Ile1196=) c.503A>T c.3768A>T (p.Ile1256=) c.3435A>T (p.Ile1145=) | |
7 | g.117627732T>A | CA368997449 | CFTR | c.3517+162T>A (n.3517+162T>A) c.*3393T>A (n.*3393T>A) c.3496T>A (p.Leu1166Ile) c.3679T>A (p.Leu1227Ile) c.*332T>A (n.*332T>A) c.*340T>A (n.*340T>A) c.*2054T>A (n.*2054T>A) c.3673T>A (p.Leu1225Ile) c.*3503T>A (n.*3503T>A) c.3253T>A (p.Leu1085Ile) c.427T>A (p.Leu143Ile) c.1466T>A (n.1466T>A) c.261T>A c.1167+162T>A c.2461T>A (p.Leu821Ile) c.3589T>A (p.Leu1197Ile) c.504T>A c.3769T>A (p.Leu1257Ile) c.3436T>A (p.Leu1146Ile) | |
7 | g.117627732T>C | CA457231470 | CFTR | c.3517+162T>C (n.3517+162T>C) c.*3393T>C (n.*3393T>C) c.3496T>C (p.Leu1166=) c.3679T>C (p.Leu1227=) c.*332T>C (n.*332T>C) c.*340T>C (n.*340T>C) c.*2054T>C (n.*2054T>C) c.3673T>C (p.Leu1225=) c.*3503T>C (n.*3503T>C) c.3253T>C (p.Leu1085=) c.427T>C (p.Leu143=) c.1466T>C (n.1466T>C) c.261T>C c.1167+162T>C c.2461T>C (p.Leu821=) c.3589T>C (p.Leu1197=) c.504T>C c.3769T>C (p.Leu1257=) c.3436T>C (p.Leu1146=) | |
7 | g.117627732T>G | CA368997451 | CFTR | c.3517+162T>G (n.3517+162T>G) c.*3393T>G (n.*3393T>G) c.3496T>G (p.Leu1166Val) c.3679T>G (p.Leu1227Val) c.*332T>G (n.*332T>G) c.*340T>G (n.*340T>G) c.*2054T>G (n.*2054T>G) c.3673T>G (p.Leu1225Val) c.*3503T>G (n.*3503T>G) c.3253T>G (p.Leu1085Val) c.427T>G (p.Leu143Val) c.1466T>G (n.1466T>G) c.261T>G c.1167+162T>G c.2461T>G (p.Leu821Val) c.3589T>G (p.Leu1197Val) c.504T>G c.3769T>G (p.Leu1257Val) c.3436T>G (p.Leu1146Val) | |
7 | g.117627733T>A | CA368997456 | CFTR | c.3517+163T>A (n.3517+163T>A) c.*3394T>A (n.*3394T>A) c.3497T>A (p.Leu1166Ter) c.3680T>A (p.Leu1227Ter) c.*333T>A (n.*333T>A) c.*341T>A (n.*341T>A) c.*2055T>A (n.*2055T>A) c.3674T>A (p.Leu1225Ter) c.*3504T>A (n.*3504T>A) c.3254T>A (p.Leu1085Ter) c.428T>A (p.Leu143Ter) c.1467T>A (n.1467T>A) c.262T>A c.1167+163T>A c.2462T>A (p.Leu821Ter) c.3590T>A (p.Leu1197Ter) c.505T>A c.3770T>A (p.Leu1257Ter) c.3437T>A (p.Leu1146Ter) | |
7 | g.117627733T>C | CA327251 | CFTR | c.3517+163T>C (n.3517+163T>C) c.*3394T>C (n.*3394T>C) c.3497T>C (p.Leu1166Ser) c.3680T>C (p.Leu1227Ser) c.*333T>C (n.*333T>C) c.*341T>C (n.*341T>C) c.*2055T>C (n.*2055T>C) c.3674T>C (p.Leu1225Ser) c.*3504T>C (n.*3504T>C) c.3254T>C (p.Leu1085Ser) c.428T>C (p.Leu143Ser) c.1467T>C (n.1467T>C) c.262T>C c.1167+163T>C c.2462T>C (p.Leu821Ser) c.3590T>C (p.Leu1197Ser) c.505T>C c.3770T>C (p.Leu1257Ser) c.3437T>C (p.Leu1146Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627733T>G | CA368997455 | CFTR | c.3517+163T>G (n.3517+163T>G) c.*3394T>G (n.*3394T>G) c.3497T>G (p.Leu1166Ter) c.3680T>G (p.Leu1227Ter) c.*333T>G (n.*333T>G) c.*341T>G (n.*341T>G) c.*2055T>G (n.*2055T>G) c.3674T>G (p.Leu1225Ter) c.*3504T>G (n.*3504T>G) c.3254T>G (p.Leu1085Ter) c.428T>G (p.Leu143Ter) c.1467T>G (n.1467T>G) c.262T>G c.1167+163T>G c.2462T>G (p.Leu821Ter) c.3590T>G (p.Leu1197Ter) c.505T>G c.3770T>G (p.Leu1257Ter) c.3437T>G (p.Leu1146Ter) | |
7 | g.117627733T= | CA1737398712 | CFTR | c.3517+163T= (n.3517+163T=) c.*3394T= (n.*3394T=) c.3497T= (p.Leu1166=) c.3680T= (p.Leu1227=) c.*333T= (n.*333T=) c.*341T= (n.*341T=) c.*2055T= (n.*2055T=) c.3674T= (p.Leu1225=) c.*3504T= (n.*3504T=) c.3254T= (p.Leu1085=) c.428T= (p.Leu143=) c.1467T= (n.1467T=) c.262T= c.1167+163T= c.2462T= (p.Leu821=) c.3590T= (p.Leu1197=) c.505T= c.3770T= (p.Leu1257=) c.3437T= (p.Leu1146=) | |
7 | g.117627734A= | CA1737398713 | CFTR | c.3517+164A= (n.3517+164A=) c.*3395A= (n.*3395A=) c.3498A= (p.Leu1166=) c.3681A= (p.Leu1227=) c.*334A= (n.*334A=) c.*342A= (n.*342A=) c.*2056A= (n.*2056A=) c.3675A= (p.Leu1225=) c.*3505A= (n.*3505A=) c.3255A= (p.Leu1085=) c.429A= (p.Leu143=) c.1468A= (n.1468A=) c.263A= c.1167+164A= c.2463A= (p.Leu821=) c.3591A= (p.Leu1197=) c.506A= c.3771A= (p.Leu1257=) c.3438A= (p.Leu1146=) | |
7 | g.117627734A>C | CA368997458 | CFTR | c.3517+164A>C (n.3517+164A>C) c.*3395A>C (n.*3395A>C) c.3498A>C (p.Leu1166Phe) c.3681A>C (p.Leu1227Phe) c.*334A>C (n.*334A>C) c.*342A>C (n.*342A>C) c.*2056A>C (n.*2056A>C) c.3675A>C (p.Leu1225Phe) c.*3505A>C (n.*3505A>C) c.3255A>C (p.Leu1085Phe) c.429A>C (p.Leu143Phe) c.1468A>C (n.1468A>C) c.263A>C c.1167+164A>C c.2463A>C (p.Leu821Phe) c.3591A>C (p.Leu1197Phe) c.506A>C c.3771A>C (p.Leu1257Phe) c.3438A>C (p.Leu1146Phe) | |
7 | g.117627734A>G | CA164976732 | CFTR | c.3517+164A>G (n.3517+164A>G) c.*3395A>G (n.*3395A>G) c.3498A>G (p.Leu1166=) c.3681A>G (p.Leu1227=) c.*334A>G (n.*334A>G) c.*342A>G (n.*342A>G) c.*2056A>G (n.*2056A>G) c.3675A>G (p.Leu1225=) c.*3505A>G (n.*3505A>G) c.3255A>G (p.Leu1085=) c.429A>G (p.Leu143=) c.1468A>G (n.1468A>G) c.263A>G c.1167+164A>G c.2463A>G (p.Leu821=) c.3591A>G (p.Leu1197=) c.506A>G c.3771A>G (p.Leu1257=) c.3438A>G (p.Leu1146=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627734A>T | CA368997459 | CFTR | c.3517+164A>T (n.3517+164A>T) c.*3395A>T (n.*3395A>T) c.3498A>T (p.Leu1166Phe) c.3681A>T (p.Leu1227Phe) c.*334A>T (n.*334A>T) c.*342A>T (n.*342A>T) c.*2056A>T (n.*2056A>T) c.3675A>T (p.Leu1225Phe) c.*3505A>T (n.*3505A>T) c.3255A>T (p.Leu1085Phe) c.429A>T (p.Leu143Phe) c.1468A>T (n.1468A>T) c.263A>T c.1167+164A>T c.2463A>T (p.Leu821Phe) c.3591A>T (p.Leu1197Phe) c.506A>T c.3771A>T (p.Leu1257Phe) c.3438A>T (p.Leu1146Phe) | |
7 | g.117627735G>A | CA368997461 | CFTR | c.3517+165G>A (n.3517+165G>A) c.*3396G>A (n.*3396G>A) c.3499G>A (p.Glu1167Lys) c.3682G>A (p.Glu1228Lys) c.*335G>A (n.*335G>A) c.*343G>A (n.*343G>A) c.*2057G>A (n.*2057G>A) c.3676G>A (p.Glu1226Lys) c.*3506G>A (n.*3506G>A) c.3256G>A (p.Glu1086Lys) c.430G>A (p.Glu144Lys) c.1469G>A (n.1469G>A) c.264G>A c.1167+165G>A c.2464G>A (p.Glu822Lys) c.3592G>A (p.Glu1198Lys) c.507G>A c.3772G>A (p.Glu1258Lys) c.3439G>A (p.Glu1147Lys) | ClinVar dbSNP |
7 | g.117627735G>C | CA4451515 | CFTR | c.3517+165G>C (n.3517+165G>C) c.*3396G>C (n.*3396G>C) c.3499G>C (p.Glu1167Gln) c.3682G>C (p.Glu1228Gln) c.*335G>C (n.*335G>C) c.*343G>C (n.*343G>C) c.*2057G>C (n.*2057G>C) c.3676G>C (p.Glu1226Gln) c.*3506G>C (n.*3506G>C) c.3256G>C (p.Glu1086Gln) c.430G>C (p.Glu144Gln) c.1469G>C (n.1469G>C) c.264G>C c.1167+165G>C c.2464G>C (p.Glu822Gln) c.3592G>C (p.Glu1198Gln) c.507G>C c.3772G>C (p.Glu1258Gln) c.3439G>C (p.Glu1147Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627735G= | CA1737398714 | CFTR | c.3517+165G= (n.3517+165G=) c.*3396G= (n.*3396G=) c.3499G= (p.Glu1167=) c.3682G= (p.Glu1228=) c.*335G= (n.*335G=) c.*343G= (n.*343G=) c.*2057G= (n.*2057G=) c.3676G= (p.Glu1226=) c.*3506G= (n.*3506G=) c.3256G= (p.Glu1086=) c.430G= (p.Glu144=) c.1469G= (n.1469G=) c.264G= c.1167+165G= c.2464G= (p.Glu822=) c.3592G= (p.Glu1198=) c.507G= c.3772G= (p.Glu1258=) c.3439G= (p.Glu1147=) | |
7 | g.117627735G>T | CA368997464 | CFTR | c.3517+165G>T (n.3517+165G>T) c.*3396G>T (n.*3396G>T) c.3499G>T (p.Glu1167Ter) c.3682G>T (p.Glu1228Ter) c.*335G>T (n.*335G>T) c.*343G>T (n.*343G>T) c.*2057G>T (n.*2057G>T) c.3676G>T (p.Glu1226Ter) c.*3506G>T (n.*3506G>T) c.3256G>T (p.Glu1086Ter) c.430G>T (p.Glu144Ter) c.1469G>T (n.1469G>T) c.264G>T c.1167+165G>T c.2464G>T (p.Glu822Ter) c.3592G>T (p.Glu1198Ter) c.507G>T c.3772G>T (p.Glu1258Ter) c.3439G>T (p.Glu1147Ter) | ClinVar dbSNP |
7 | g.117627736A= | CA1737398715 | CFTR | c.3517+166A= (n.3517+166A=) c.*3397A= (n.*3397A=) c.3500A= (p.Glu1167=) c.3683A= (p.Glu1228=) c.*336A= (n.*336A=) c.*344A= (n.*344A=) c.*2058A= (n.*2058A=) c.3677A= (p.Glu1226=) c.*3507A= (n.*3507A=) c.3257A= (p.Glu1086=) c.431A= (p.Glu144=) c.1470A= (n.1470A=) c.265A= c.1167+166A= c.2465A= (p.Glu822=) c.3593A= (p.Glu1198=) c.508A= c.3773A= (p.Glu1258=) c.3440A= (p.Glu1147=) | |
7 | g.117627736A>C | CA368997466 | CFTR | c.3517+166A>C (n.3517+166A>C) c.*3397A>C (n.*3397A>C) c.3500A>C (p.Glu1167Ala) c.3683A>C (p.Glu1228Ala) c.*336A>C (n.*336A>C) c.*344A>C (n.*344A>C) c.*2058A>C (n.*2058A>C) c.3677A>C (p.Glu1226Ala) c.*3507A>C (n.*3507A>C) c.3257A>C (p.Glu1086Ala) c.431A>C (p.Glu144Ala) c.1470A>C (n.1470A>C) c.265A>C c.1167+166A>C c.2465A>C (p.Glu822Ala) c.3593A>C (p.Glu1198Ala) c.508A>C c.3773A>C (p.Glu1258Ala) c.3440A>C (p.Glu1147Ala) | |
7 | g.117627736A>G | CA368997468 | CFTR | c.3517+166A>G (n.3517+166A>G) c.*3397A>G (n.*3397A>G) c.3500A>G (p.Glu1167Gly) c.3683A>G (p.Glu1228Gly) c.*336A>G (n.*336A>G) c.*344A>G (n.*344A>G) c.*2058A>G (n.*2058A>G) c.3677A>G (p.Glu1226Gly) c.*3507A>G (n.*3507A>G) c.3257A>G (p.Glu1086Gly) c.431A>G (p.Glu144Gly) c.1470A>G (n.1470A>G) c.265A>G c.1167+166A>G c.2465A>G (p.Glu822Gly) c.3593A>G (p.Glu1198Gly) c.508A>G c.3773A>G (p.Glu1258Gly) c.3440A>G (p.Glu1147Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627736A>T | CA368997469 | CFTR | c.3517+166A>T (n.3517+166A>T) c.*3397A>T (n.*3397A>T) c.3500A>T (p.Glu1167Val) c.3683A>T (p.Glu1228Val) c.*336A>T (n.*336A>T) c.*344A>T (n.*344A>T) c.*2058A>T (n.*2058A>T) c.3677A>T (p.Glu1226Val) c.*3507A>T (n.*3507A>T) c.3257A>T (p.Glu1086Val) c.431A>T (p.Glu144Val) c.1470A>T (n.1470A>T) c.265A>T c.1167+166A>T c.2465A>T (p.Glu822Val) c.3593A>T (p.Glu1198Val) c.508A>T c.3773A>T (p.Glu1258Val) c.3440A>T (p.Glu1147Val) | |
7 | g.117627737G>A | CA457231471 | CFTR | c.3517+167G>A (n.3517+167G>A) c.*3398G>A (n.*3398G>A) c.3501G>A (p.Glu1167=) c.3684G>A (p.Glu1228=) c.*337G>A (n.*337G>A) c.*345G>A (n.*345G>A) c.*2059G>A (n.*2059G>A) c.3678G>A (p.Glu1226=) c.*3508G>A (n.*3508G>A) c.3258G>A (p.Glu1086=) c.432G>A (p.Glu144=) c.1471G>A (n.1471G>A) c.266G>A c.1167+167G>A c.2466G>A (p.Glu822=) c.3594G>A (p.Glu1198=) c.509G>A c.3774G>A (p.Glu1258=) c.3441G>A (p.Glu1147=) | ClinVar |
7 | g.117627737G>C | CA368997471 | CFTR | c.3517+167G>C (n.3517+167G>C) c.*3398G>C (n.*3398G>C) c.3501G>C (p.Glu1167Asp) c.3684G>C (p.Glu1228Asp) c.*337G>C (n.*337G>C) c.*345G>C (n.*345G>C) c.*2059G>C (n.*2059G>C) c.3678G>C (p.Glu1226Asp) c.*3508G>C (n.*3508G>C) c.3258G>C (p.Glu1086Asp) c.432G>C (p.Glu144Asp) c.1471G>C (n.1471G>C) c.266G>C c.1167+167G>C c.2466G>C (p.Glu822Asp) c.3594G>C (p.Glu1198Asp) c.509G>C c.3774G>C (p.Glu1258Asp) c.3441G>C (p.Glu1147Asp) | |
7 | g.117627737G>T | CA368997472 | CFTR | c.3517+167G>T (n.3517+167G>T) c.*3398G>T (n.*3398G>T) c.3501G>T (p.Glu1167Asp) c.3684G>T (p.Glu1228Asp) c.*337G>T (n.*337G>T) c.*345G>T (n.*345G>T) c.*2059G>T (n.*2059G>T) c.3678G>T (p.Glu1226Asp) c.*3508G>T (n.*3508G>T) c.3258G>T (p.Glu1086Asp) c.432G>T (p.Glu144Asp) c.1471G>T (n.1471G>T) c.266G>T c.1167+167G>T c.2466G>T (p.Glu822Asp) c.3594G>T (p.Glu1198Asp) c.509G>T c.3774G>T (p.Glu1258Asp) c.3441G>T (p.Glu1147Asp) | |
7 | g.117627738A>C | CA368997475 | CFTR | c.3517+168A>C (n.3517+168A>C) c.*3399A>C (n.*3399A>C) c.3502A>C (p.Asn1168His) c.3685A>C (p.Asn1229His) c.*338A>C (n.*338A>C) c.*346A>C (n.*346A>C) c.*2060A>C (n.*2060A>C) c.3679A>C (p.Asn1227His) c.*3509A>C (n.*3509A>C) c.3259A>C (p.Asn1087His) c.433A>C (p.Asn145His) c.1472A>C (n.1472A>C) c.267A>C c.1167+168A>C c.2467A>C (p.Asn823His) c.3595A>C (p.Asn1199His) c.510A>C c.3775A>C (p.Asn1259His) c.3442A>C (p.Asn1148His) | |
7 | g.117627738A>G | CA368997477 | CFTR | c.3517+168A>G (n.3517+168A>G) c.*3399A>G (n.*3399A>G) c.3502A>G (p.Asn1168Asp) c.3685A>G (p.Asn1229Asp) c.*338A>G (n.*338A>G) c.*346A>G (n.*346A>G) c.*2060A>G (n.*2060A>G) c.3679A>G (p.Asn1227Asp) c.*3509A>G (n.*3509A>G) c.3259A>G (p.Asn1087Asp) c.433A>G (p.Asn145Asp) c.1472A>G (n.1472A>G) c.267A>G c.1167+168A>G c.2467A>G (p.Asn823Asp) c.3595A>G (p.Asn1199Asp) c.510A>G c.3775A>G (p.Asn1259Asp) c.3442A>G (p.Asn1148Asp) | |
7 | g.117627738A>T | CA368997478 | CFTR | c.3517+168A>T (n.3517+168A>T) c.*3399A>T (n.*3399A>T) c.3502A>T (p.Asn1168Tyr) c.3685A>T (p.Asn1229Tyr) c.*338A>T (n.*338A>T) c.*346A>T (n.*346A>T) c.*2060A>T (n.*2060A>T) c.3679A>T (p.Asn1227Tyr) c.*3509A>T (n.*3509A>T) c.3259A>T (p.Asn1087Tyr) c.433A>T (p.Asn145Tyr) c.1472A>T (n.1472A>T) c.267A>T c.1167+168A>T c.2467A>T (p.Asn823Tyr) c.3595A>T (p.Asn1199Tyr) c.510A>T c.3775A>T (p.Asn1259Tyr) c.3442A>T (p.Asn1148Tyr) | |
7 | g.117627739A>C | CA368997481 | CFTR | c.3517+169A>C (n.3517+169A>C) c.*3400A>C (n.*3400A>C) c.3503A>C (p.Asn1168Thr) c.3686A>C (p.Asn1229Thr) c.*339A>C (n.*339A>C) c.*347A>C (n.*347A>C) c.*2061A>C (n.*2061A>C) c.3680A>C (p.Asn1227Thr) c.*3510A>C (n.*3510A>C) c.3260A>C (p.Asn1087Thr) c.434A>C (p.Asn145Thr) c.1473A>C (n.1473A>C) c.268A>C c.1167+169A>C c.2468A>C (p.Asn823Thr) c.3596A>C (p.Asn1199Thr) c.511A>C c.3776A>C (p.Asn1259Thr) c.3443A>C (p.Asn1148Thr) | gnomAD v4 |
7 | g.117627739A>G | CA368997484 | CFTR | c.3517+169A>G (n.3517+169A>G) c.*3400A>G (n.*3400A>G) c.3503A>G (p.Asn1168Ser) c.3686A>G (p.Asn1229Ser) c.*339A>G (n.*339A>G) c.*347A>G (n.*347A>G) c.*2061A>G (n.*2061A>G) c.3680A>G (p.Asn1227Ser) c.*3510A>G (n.*3510A>G) c.3260A>G (p.Asn1087Ser) c.434A>G (p.Asn145Ser) c.1473A>G (n.1473A>G) c.268A>G c.1167+169A>G c.2468A>G (p.Asn823Ser) c.3596A>G (p.Asn1199Ser) c.511A>G c.3776A>G (p.Asn1259Ser) c.3443A>G (p.Asn1148Ser) | |
7 | g.117627739A>T | CA368997483 | CFTR | c.3517+169A>T (n.3517+169A>T) c.*3400A>T (n.*3400A>T) c.3503A>T (p.Asn1168Ile) c.3686A>T (p.Asn1229Ile) c.*339A>T (n.*339A>T) c.*347A>T (n.*347A>T) c.*2061A>T (n.*2061A>T) c.3680A>T (p.Asn1227Ile) c.*3510A>T (n.*3510A>T) c.3260A>T (p.Asn1087Ile) c.434A>T (p.Asn145Ile) c.1473A>T (n.1473A>T) c.268A>T c.1167+169A>T c.2468A>T (p.Asn823Ile) c.3596A>T (p.Asn1199Ile) c.511A>T c.3776A>T (p.Asn1259Ile) c.3443A>T (p.Asn1148Ile) | |
7 | g.117627740C>A | CA4451516 | CFTR | c.3517+170C>A (n.3517+170C>A) c.*3401C>A (n.*3401C>A) c.3504C>A (p.Asn1168Lys) c.3687C>A (p.Asn1229Lys) c.*340C>A (n.*340C>A) c.*348C>A (n.*348C>A) c.*2062C>A (n.*2062C>A) c.3681C>A (p.Asn1227Lys) c.*3511C>A (n.*3511C>A) c.3261C>A (p.Asn1087Lys) c.435C>A (p.Asn145Lys) c.1474C>A (n.1474C>A) c.269C>A c.1167+170C>A c.2469C>A (p.Asn823Lys) c.3597C>A (p.Asn1199Lys) c.512C>A c.3777C>A (p.Asn1259Lys) c.3444C>A (p.Asn1148Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627740C= | CA1737398716 | CFTR | c.3517+170C= (n.3517+170C=) c.*3401C= (n.*3401C=) c.3504C= (p.Asn1168=) c.3687C= (p.Asn1229=) c.*340C= (n.*340C=) c.*348C= (n.*348C=) c.*2062C= (n.*2062C=) c.3681C= (p.Asn1227=) c.*3511C= (n.*3511C=) c.3261C= (p.Asn1087=) c.435C= (p.Asn145=) c.1474C= (n.1474C=) c.269C= c.1167+170C= c.2469C= (p.Asn823=) c.3597C= (p.Asn1199=) c.512C= c.3777C= (p.Asn1259=) c.3444C= (p.Asn1148=) | |
7 | g.117627740C>G | CA368997486 | CFTR | c.3517+170C>G (n.3517+170C>G) c.*3401C>G (n.*3401C>G) c.3504C>G (p.Asn1168Lys) c.3687C>G (p.Asn1229Lys) c.*340C>G (n.*340C>G) c.*348C>G (n.*348C>G) c.*2062C>G (n.*2062C>G) c.3681C>G (p.Asn1227Lys) c.*3511C>G (n.*3511C>G) c.3261C>G (p.Asn1087Lys) c.435C>G (p.Asn145Lys) c.1474C>G (n.1474C>G) c.269C>G c.1167+170C>G c.2469C>G (p.Asn823Lys) c.3597C>G (p.Asn1199Lys) c.512C>G c.3777C>G (p.Asn1259Lys) c.3444C>G (p.Asn1148Lys) | |
7 | g.117627740C>T | CA457231472 | CFTR | c.3517+170C>T (n.3517+170C>T) c.*3401C>T (n.*3401C>T) c.3504C>T (p.Asn1168=) c.3687C>T (p.Asn1229=) c.*340C>T (n.*340C>T) c.*348C>T (n.*348C>T) c.*2062C>T (n.*2062C>T) c.3681C>T (p.Asn1227=) c.*3511C>T (n.*3511C>T) c.3261C>T (p.Asn1087=) c.435C>T (p.Asn145=) c.1474C>T (n.1474C>T) c.269C>T c.1167+170C>T c.2469C>T (p.Asn823=) c.3597C>T (p.Asn1199=) c.512C>T c.3777C>T (p.Asn1259=) c.3444C>T (p.Asn1148=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627741A= | CA1737398718 | CFTR | c.3517+171A= (n.3517+171A=) c.*3402A= (n.*3402A=) c.3505A= (p.Ile1169=) c.3688A= (p.Ile1230=) c.*341A= (n.*341A=) c.*349A= (n.*349A=) c.*2063A= (n.*2063A=) c.3682A= (p.Ile1228=) c.*3512A= (n.*3512A=) c.3262A= (p.Ile1088=) c.436A= (p.Ile146=) c.1475A= (n.1475A=) c.270A= c.1167+171A= c.2470A= (p.Ile824=) c.3598A= (p.Ile1200=) c.513A= c.3778A= (p.Ile1260=) c.3445A= (p.Ile1149=) | |
7 | g.117627741A>C | CA368997488 | CFTR | c.3517+171A>C (n.3517+171A>C) c.*3402A>C (n.*3402A>C) c.3505A>C (p.Ile1169Leu) c.3688A>C (p.Ile1230Leu) c.*341A>C (n.*341A>C) c.*349A>C (n.*349A>C) c.*2063A>C (n.*2063A>C) c.3682A>C (p.Ile1228Leu) c.*3512A>C (n.*3512A>C) c.3262A>C (p.Ile1088Leu) c.436A>C (p.Ile146Leu) c.1475A>C (n.1475A>C) c.270A>C c.1167+171A>C c.2470A>C (p.Ile824Leu) c.3598A>C (p.Ile1200Leu) c.513A>C c.3778A>C (p.Ile1260Leu) c.3445A>C (p.Ile1149Leu) | |
7 | g.117627741A>G | CA164976744 | CFTR | c.3517+171A>G (n.3517+171A>G) c.*3402A>G (n.*3402A>G) c.3505A>G (p.Ile1169Val) c.3688A>G (p.Ile1230Val) c.*341A>G (n.*341A>G) c.*349A>G (n.*349A>G) c.*2063A>G (n.*2063A>G) c.3682A>G (p.Ile1228Val) c.*3512A>G (n.*3512A>G) c.3262A>G (p.Ile1088Val) c.436A>G (p.Ile146Val) c.1475A>G (n.1475A>G) c.270A>G c.1167+171A>G c.2470A>G (p.Ile824Val) c.3598A>G (p.Ile1200Val) c.513A>G c.3778A>G (p.Ile1260Val) c.3445A>G (p.Ile1149Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627741A>T | CA368997489 | CFTR | c.3517+171A>T (n.3517+171A>T) c.*3402A>T (n.*3402A>T) c.3505A>T (p.Ile1169Phe) c.3688A>T (p.Ile1230Phe) c.*341A>T (n.*341A>T) c.*349A>T (n.*349A>T) c.*2063A>T (n.*2063A>T) c.3682A>T (p.Ile1228Phe) c.*3512A>T (n.*3512A>T) c.3262A>T (p.Ile1088Phe) c.436A>T (p.Ile146Phe) c.1475A>T (n.1475A>T) c.270A>T c.1167+171A>T c.2470A>T (p.Ile824Phe) c.3598A>T (p.Ile1200Phe) c.513A>T c.3778A>T (p.Ile1260Phe) c.3445A>T (p.Ile1149Phe) | |
7 | g.117627741_117627742delinsAT | CA1737398717 | CFTR | c.3517+171_3517+172delinsAT (n.3517+171_3517+172delinsAT) c.*3402_*3403delinsAT (n.*3402_*3403delinsAT) c.3505_3506delinsAT (p.Ile1169=) c.3688_3689delinsAT (p.Ile1230=) c.*341_*342delinsAT (n.*341_*342delinsAT) c.*349_*350delinsAT (n.*349_*350delinsAT) c.*2063_*2064delinsAT (n.*2063_*2064delinsAT) c.3682_3683delinsAT (p.Ile1228=) c.*3512_*3513delinsAT (n.*3512_*3513delinsAT) c.3262_3263delinsAT (p.Ile1088=) c.436_437delinsAT (p.Ile146=) c.1475_1476delinsAT (n.1475_1476delinsAT) c.270_271delinsAT c.1167+171_1167+172delinsAT c.2470_2471delinsAT (p.Ile824=) c.3598_3599delinsAT (p.Ile1200=) c.513_514delinsAT c.3778_3779delinsAT (p.Ile1260=) c.3445_3446delinsAT (p.Ile1149=) | |
7 | g.117627742T>A | CA368997499 | CFTR | c.3517+172T>A (n.3517+172T>A) c.*3403T>A (n.*3403T>A) c.3506T>A (p.Ile1169Asn) c.3689T>A (p.Ile1230Asn) c.*342T>A (n.*342T>A) c.*350T>A (n.*350T>A) c.*2064T>A (n.*2064T>A) c.3683T>A (p.Ile1228Asn) c.*3513T>A (n.*3513T>A) c.3263T>A (p.Ile1088Asn) c.437T>A (p.Ile146Asn) c.1476T>A (n.1476T>A) c.271T>A c.1167+172T>A c.2471T>A (p.Ile824Asn) c.3599T>A (p.Ile1200Asn) c.514T>A c.3779T>A (p.Ile1260Asn) c.3446T>A (p.Ile1149Asn) | |
7 | g.117627742T>C | CA4451517 | CFTR | c.3517+172T>C (n.3517+172T>C) c.*3403T>C (n.*3403T>C) c.3506T>C (p.Ile1169Thr) c.3689T>C (p.Ile1230Thr) c.*342T>C (n.*342T>C) c.*350T>C (n.*350T>C) c.*2064T>C (n.*2064T>C) c.3683T>C (p.Ile1228Thr) c.*3513T>C (n.*3513T>C) c.3263T>C (p.Ile1088Thr) c.437T>C (p.Ile146Thr) c.1476T>C (n.1476T>C) c.271T>C c.1167+172T>C c.2471T>C (p.Ile824Thr) c.3599T>C (p.Ile1200Thr) c.514T>C c.3779T>C (p.Ile1260Thr) c.3446T>C (p.Ile1149Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627742T>G | CA368997493 | CFTR | c.3517+172T>G (n.3517+172T>G) c.*3403T>G (n.*3403T>G) c.3506T>G (p.Ile1169Ser) c.3689T>G (p.Ile1230Ser) c.*342T>G (n.*342T>G) c.*350T>G (n.*350T>G) c.*2064T>G (n.*2064T>G) c.3683T>G (p.Ile1228Ser) c.*3513T>G (n.*3513T>G) c.3263T>G (p.Ile1088Ser) c.437T>G (p.Ile146Ser) c.1476T>G (n.1476T>G) c.271T>G c.1167+172T>G c.2471T>G (p.Ile824Ser) c.3599T>G (p.Ile1200Ser) c.514T>G c.3779T>G (p.Ile1260Ser) c.3446T>G (p.Ile1149Ser) | |
7 | g.117627742T= | CA1737398719 | CFTR | c.3517+172T= (n.3517+172T=) c.*3403T= (n.*3403T=) c.3506T= (p.Ile1169=) c.3689T= (p.Ile1230=) c.*342T= (n.*342T=) c.*350T= (n.*350T=) c.*2064T= (n.*2064T=) c.3683T= (p.Ile1228=) c.*3513T= (n.*3513T=) c.3263T= (p.Ile1088=) c.437T= (p.Ile146=) c.1476T= (n.1476T=) c.271T= c.1167+172T= c.2471T= (p.Ile824=) c.3599T= (p.Ile1200=) c.514T= c.3779T= (p.Ile1260=) c.3446T= (p.Ile1149=) | |
7 | g.117627744dup | CA164976748 | CFTR | c.3517+174dup (n.3517+174dup) c.*3405dup (n.*3405dup) c.3508dup (p.Ser1170PhefsTer?) c.3691dup (p.Ser1231PhefsTer?) c.*344dup (n.*344dup) c.*352dup (n.*352dup) c.*2066dup (n.*2066dup) c.3685dup (p.Ser1229PhefsTer?) c.*3515dup (n.*3515dup) c.3265dup (p.Ser1089PhefsTer?) c.439dup (p.Ser147PhefsTer?) c.1478dup (n.1478dup) c.273dup c.1167+174dup c.2473dup (p.Ser825PhefsTer13) c.3508dup (p.Ser1170PhefsTer13) c.3601dup (p.Ser1201PhefsTer?) c.516dup c.3781dup (p.Ser1261PhefsTer?) c.3448dup (p.Ser1150PhefsTer?) | |
7 | g.117627744del | CA325707 | CFTR | c.3517+174del (n.3517+174del) c.*3405del (n.*3405del) c.3508del (p.Ser1170ProfsTer4) c.3691del (p.Ser1231ProfsTer4) c.*344del (n.*344del) c.*352del (n.*352del) c.*2066del (n.*2066del) c.3685del (p.Ser1229ProfsTer4) c.*3515del (n.*3515del) c.3265del (p.Ser1089ProfsTer4) c.439del (p.Ser147ProfsTer4) c.1478del (n.1478del) c.273del c.1167+174del c.2473del (p.Ser825ProfsTer4) c.3601del (p.Ser1201ProfsTer4) c.516del c.3781del (p.Ser1261ProfsTer4) c.3448del (p.Ser1150ProfsTer4) | ClinVar dbSNP gnomAD v4 |
7 | g.117627743T>A | CA457231473 | CFTR | c.3517+173T>A (n.3517+173T>A) c.*3404T>A (n.*3404T>A) c.3507T>A (p.Ile1169=) c.3690T>A (p.Ile1230=) c.*343T>A (n.*343T>A) c.*351T>A (n.*351T>A) c.*2065T>A (n.*2065T>A) c.3684T>A (p.Ile1228=) c.*3514T>A (n.*3514T>A) c.3264T>A (p.Ile1088=) c.438T>A (p.Ile146=) c.1477T>A (n.1477T>A) c.272T>A c.1167+173T>A c.2472T>A (p.Ile824=) c.3600T>A (p.Ile1200=) c.515T>A c.3780T>A (p.Ile1260=) c.3447T>A (p.Ile1149=) | |
7 | g.117627743T>C | CA457231474 | CFTR | c.3517+173T>C (n.3517+173T>C) c.*3404T>C (n.*3404T>C) c.3507T>C (p.Ile1169=) c.3690T>C (p.Ile1230=) c.*343T>C (n.*343T>C) c.*351T>C (n.*351T>C) c.*2065T>C (n.*2065T>C) c.3684T>C (p.Ile1228=) c.*3514T>C (n.*3514T>C) c.3264T>C (p.Ile1088=) c.438T>C (p.Ile146=) c.1477T>C (n.1477T>C) c.272T>C c.1167+173T>C c.2472T>C (p.Ile824=) c.3600T>C (p.Ile1200=) c.515T>C c.3780T>C (p.Ile1260=) c.3447T>C (p.Ile1149=) | ClinVar |
7 | g.117627743T>G | CA368997501 | CFTR | c.3517+173T>G (n.3517+173T>G) c.*3404T>G (n.*3404T>G) c.3507T>G (p.Ile1169Met) c.3690T>G (p.Ile1230Met) c.*343T>G (n.*343T>G) c.*351T>G (n.*351T>G) c.*2065T>G (n.*2065T>G) c.3684T>G (p.Ile1228Met) c.*3514T>G (n.*3514T>G) c.3264T>G (p.Ile1088Met) c.438T>G (p.Ile146Met) c.1477T>G (n.1477T>G) c.272T>G c.1167+173T>G c.2472T>G (p.Ile824Met) c.3600T>G (p.Ile1200Met) c.515T>G c.3780T>G (p.Ile1260Met) c.3447T>G (p.Ile1149Met) | |
7 | g.117627744T>A | CA368997504 | CFTR | c.3517+174T>A (n.3517+174T>A) c.*3405T>A (n.*3405T>A) c.3508T>A (p.Ser1170Thr) c.3691T>A (p.Ser1231Thr) c.*344T>A (n.*344T>A) c.*352T>A (n.*352T>A) c.*2066T>A (n.*2066T>A) c.3685T>A (p.Ser1229Thr) c.*3515T>A (n.*3515T>A) c.3265T>A (p.Ser1089Thr) c.439T>A (p.Ser147Thr) c.1478T>A (n.1478T>A) c.273T>A c.1167+174T>A c.2473T>A (p.Ser825Thr) c.3601T>A (p.Ser1201Thr) c.516T>A c.3781T>A (p.Ser1261Thr) c.3448T>A (p.Ser1150Thr) | |
7 | g.117627744T>C | CA368997506 | CFTR | c.3517+174T>C (n.3517+174T>C) c.*3405T>C (n.*3405T>C) c.3508T>C (p.Ser1170Pro) c.3691T>C (p.Ser1231Pro) c.*344T>C (n.*344T>C) c.*352T>C (n.*352T>C) c.*2066T>C (n.*2066T>C) c.3685T>C (p.Ser1229Pro) c.*3515T>C (n.*3515T>C) c.3265T>C (p.Ser1089Pro) c.439T>C (p.Ser147Pro) c.1478T>C (n.1478T>C) c.273T>C c.1167+174T>C c.2473T>C (p.Ser825Pro) c.3601T>C (p.Ser1201Pro) c.516T>C c.3781T>C (p.Ser1261Pro) c.3448T>C (p.Ser1150Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117627744T>G | CA368997507 | CFTR | c.3517+174T>G (n.3517+174T>G) c.*3405T>G (n.*3405T>G) c.3508T>G (p.Ser1170Ala) c.3691T>G (p.Ser1231Ala) c.*344T>G (n.*344T>G) c.*352T>G (n.*352T>G) c.*2066T>G (n.*2066T>G) c.3685T>G (p.Ser1229Ala) c.*3515T>G (n.*3515T>G) c.3265T>G (p.Ser1089Ala) c.439T>G (p.Ser147Ala) c.1478T>G (n.1478T>G) c.273T>G c.1167+174T>G c.2473T>G (p.Ser825Ala) c.3601T>G (p.Ser1201Ala) c.516T>G c.3781T>G (p.Ser1261Ala) c.3448T>G (p.Ser1150Ala) | |
7 | g.117627744T= | CA1737398720 | CFTR | c.3517+174T= (n.3517+174T=) c.*3405T= (n.*3405T=) c.3508T= (p.Ser1170=) c.3691T= (p.Ser1231=) c.*344T= (n.*344T=) c.*352T= (n.*352T=) c.*2066T= (n.*2066T=) c.3685T= (p.Ser1229=) c.*3515T= (n.*3515T=) c.3265T= (p.Ser1089=) c.439T= (p.Ser147=) c.1478T= (n.1478T=) c.273T= c.1167+174T= c.2473T= (p.Ser825=) c.3601T= (p.Ser1201=) c.516T= c.3781T= (p.Ser1261=) c.3448T= (p.Ser1150=) | |
7 | g.117627745C>A | CA368997510 | CFTR | c.3517+175C>A (n.3517+175C>A) c.*3406C>A (n.*3406C>A) c.3509C>A (p.Ser1170Tyr) c.3692C>A (p.Ser1231Tyr) c.*345C>A (n.*345C>A) c.*353C>A (n.*353C>A) c.*2067C>A (n.*2067C>A) c.3686C>A (p.Ser1229Tyr) c.*3516C>A (n.*3516C>A) c.3266C>A (p.Ser1089Tyr) c.440C>A (p.Ser147Tyr) c.1479C>A (n.1479C>A) c.274C>A c.1167+175C>A c.2474C>A (p.Ser825Tyr) c.3602C>A (p.Ser1201Tyr) c.517C>A c.3782C>A (p.Ser1261Tyr) c.3449C>A (p.Ser1150Tyr) | dbSNP |
7 | g.117627745C= | CA1737398721 | CFTR | c.3517+175C= (n.3517+175C=) c.*3406C= (n.*3406C=) c.3509C= (p.Ser1170=) c.3692C= (p.Ser1231=) c.*345C= (n.*345C=) c.*353C= (n.*353C=) c.*2067C= (n.*2067C=) c.3686C= (p.Ser1229=) c.*3516C= (n.*3516C=) c.3266C= (p.Ser1089=) c.440C= (p.Ser147=) c.1479C= (n.1479C=) c.274C= c.1167+175C= c.2474C= (p.Ser825=) c.3602C= (p.Ser1201=) c.517C= c.3782C= (p.Ser1261=) c.3449C= (p.Ser1150=) | |
7 | g.117627745C>G | CA368997513 | CFTR | c.3517+175C>G (n.3517+175C>G) c.*3406C>G (n.*3406C>G) c.3509C>G (p.Ser1170Cys) c.3692C>G (p.Ser1231Cys) c.*345C>G (n.*345C>G) c.*353C>G (n.*353C>G) c.*2067C>G (n.*2067C>G) c.3686C>G (p.Ser1229Cys) c.*3516C>G (n.*3516C>G) c.3266C>G (p.Ser1089Cys) c.440C>G (p.Ser147Cys) c.1479C>G (n.1479C>G) c.274C>G c.1167+175C>G c.2474C>G (p.Ser825Cys) c.3602C>G (p.Ser1201Cys) c.517C>G c.3782C>G (p.Ser1261Cys) c.3449C>G (p.Ser1150Cys) | |
7 | g.117627745C>T | CA368997512 | CFTR | c.3517+175C>T (n.3517+175C>T) c.*3406C>T (n.*3406C>T) c.3509C>T (p.Ser1170Phe) c.3692C>T (p.Ser1231Phe) c.*345C>T (n.*345C>T) c.*353C>T (n.*353C>T) c.*2067C>T (n.*2067C>T) c.3686C>T (p.Ser1229Phe) c.*3516C>T (n.*3516C>T) c.3266C>T (p.Ser1089Phe) c.440C>T (p.Ser147Phe) c.1479C>T (n.1479C>T) c.274C>T c.1167+175C>T c.2474C>T (p.Ser825Phe) c.3602C>T (p.Ser1201Phe) c.517C>T c.3782C>T (p.Ser1261Phe) c.3449C>T (p.Ser1150Phe) | |
7 | g.117627746C>A | CA457231475 | CFTR | c.3517+176C>A (n.3517+176C>A) c.*3407C>A (n.*3407C>A) c.3510C>A (p.Ser1170=) c.3693C>A (p.Ser1231=) c.*346C>A (n.*346C>A) c.*354C>A (n.*354C>A) c.*2068C>A (n.*2068C>A) c.3687C>A (p.Ser1229=) c.*3517C>A (n.*3517C>A) c.3267C>A (p.Ser1089=) c.441C>A (p.Ser147=) c.1480C>A (n.1480C>A) c.275C>A c.1167+176C>A c.2475C>A (p.Ser825=) c.3603C>A (p.Ser1201=) c.518C>A c.3783C>A (p.Ser1261=) c.3450C>A (p.Ser1150=) | |
7 | g.117627746C>G | CA457231476 | CFTR | c.3517+176C>G (n.3517+176C>G) c.*3407C>G (n.*3407C>G) c.3510C>G (p.Ser1170=) c.3693C>G (p.Ser1231=) c.*346C>G (n.*346C>G) c.*354C>G (n.*354C>G) c.*2068C>G (n.*2068C>G) c.3687C>G (p.Ser1229=) c.*3517C>G (n.*3517C>G) c.3267C>G (p.Ser1089=) c.441C>G (p.Ser147=) c.1480C>G (n.1480C>G) c.275C>G c.1167+176C>G c.2475C>G (p.Ser825=) c.3603C>G (p.Ser1201=) c.518C>G c.3783C>G (p.Ser1261=) c.3450C>G (p.Ser1150=) | |
7 | g.117627746C>T | CA457231477 | CFTR | c.3517+176C>T (n.3517+176C>T) c.*3407C>T (n.*3407C>T) c.3510C>T (p.Ser1170=) c.3693C>T (p.Ser1231=) c.*346C>T (n.*346C>T) c.*354C>T (n.*354C>T) c.*2068C>T (n.*2068C>T) c.3687C>T (p.Ser1229=) c.*3517C>T (n.*3517C>T) c.3267C>T (p.Ser1089=) c.441C>T (p.Ser147=) c.1480C>T (n.1480C>T) c.275C>T c.1167+176C>T c.2475C>T (p.Ser825=) c.3603C>T (p.Ser1201=) c.518C>T c.3783C>T (p.Ser1261=) c.3450C>T (p.Ser1150=) | |
7 | g.117627747T>A | CA368997515 | CFTR | c.3517+177T>A (n.3517+177T>A) c.*3408T>A (n.*3408T>A) c.3511T>A (p.Phe1171Ile) c.3694T>A (p.Phe1232Ile) c.*347T>A (n.*347T>A) c.*355T>A (n.*355T>A) c.*2069T>A (n.*2069T>A) c.3688T>A (p.Phe1230Ile) c.*3518T>A (n.*3518T>A) c.3268T>A (p.Phe1090Ile) c.442T>A (p.Phe148Ile) c.1481T>A (n.1481T>A) c.276T>A c.1167+177T>A c.2476T>A (p.Phe826Ile) c.3604T>A (p.Phe1202Ile) c.519T>A c.3784T>A (p.Phe1262Ile) c.3451T>A (p.Phe1151Ile) | |
7 | g.117627747T>C | CA368997517 | CFTR | c.3517+177T>C (n.3517+177T>C) c.*3408T>C (n.*3408T>C) c.3511T>C (p.Phe1171Leu) c.3694T>C (p.Phe1232Leu) c.*347T>C (n.*347T>C) c.*355T>C (n.*355T>C) c.*2069T>C (n.*2069T>C) c.3688T>C (p.Phe1230Leu) c.*3518T>C (n.*3518T>C) c.3268T>C (p.Phe1090Leu) c.442T>C (p.Phe148Leu) c.1481T>C (n.1481T>C) c.276T>C c.1167+177T>C c.2476T>C (p.Phe826Leu) c.3604T>C (p.Phe1202Leu) c.519T>C c.3784T>C (p.Phe1262Leu) c.3451T>C (p.Phe1151Leu) | |
7 | g.117627747T>G | CA368997518 | CFTR | c.3517+177T>G (n.3517+177T>G) c.*3408T>G (n.*3408T>G) c.3511T>G (p.Phe1171Val) c.3694T>G (p.Phe1232Val) c.*347T>G (n.*347T>G) c.*355T>G (n.*355T>G) c.*2069T>G (n.*2069T>G) c.3688T>G (p.Phe1230Val) c.*3518T>G (n.*3518T>G) c.3268T>G (p.Phe1090Val) c.442T>G (p.Phe148Val) c.1481T>G (n.1481T>G) c.276T>G c.1167+177T>G c.2476T>G (p.Phe826Val) c.3604T>G (p.Phe1202Val) c.519T>G c.3784T>G (p.Phe1262Val) c.3451T>G (p.Phe1151Val) | |
7 | g.117627747_117627749delinsTTC | CA1737398722 | CFTR | c.3517+177_3517+179delinsTTC (n.3517+177_3517+179delinsTTC) c.*3408_*3410delinsTTC (n.*3408_*3410delinsTTC) c.3511_3513delinsTTC (p.Phe1171=) c.3694_3696delinsTTC (p.Phe1232=) c.*347_*349delinsTTC (n.*347_*349delinsTTC) c.*355_*357delinsTTC (n.*355_*357delinsTTC) c.*2069_*2071delinsTTC (n.*2069_*2071delinsTTC) c.3688_3690delinsTTC (p.Phe1230=) c.*3518_*3520delinsTTC (n.*3518_*3520delinsTTC) c.3268_3270delinsTTC (p.Phe1090=) c.442_444delinsTTC (p.Phe148=) c.1481_1483delinsTTC (n.1481_1483delinsTTC) c.276_278delinsTTC c.1167+177_1167+179delinsTTC c.2476_2478delinsTTC (p.Phe826=) c.3604_3606delinsTTC (p.Phe1202=) c.519_521delinsTTC c.3784_3786delinsTTC (p.Phe1262=) c.3451_3453delinsTTC (p.Phe1151=) | |
7 | g.117627748T>A | CA368997521 | CFTR | c.3517+178T>A (n.3517+178T>A) c.*3409T>A (n.*3409T>A) c.3512T>A (p.Phe1171Tyr) c.3695T>A (p.Phe1232Tyr) c.*348T>A (n.*348T>A) c.*356T>A (n.*356T>A) c.*2070T>A (n.*2070T>A) c.3689T>A (p.Phe1230Tyr) c.*3519T>A (n.*3519T>A) c.3269T>A (p.Phe1090Tyr) c.443T>A (p.Phe148Tyr) c.1482T>A (n.1482T>A) c.277T>A c.1167+178T>A c.2477T>A (p.Phe826Tyr) c.3605T>A (p.Phe1202Tyr) c.520T>A c.3785T>A (p.Phe1262Tyr) c.3452T>A (p.Phe1151Tyr) | |
7 | g.117627748T>C | CA368997523 | CFTR | c.3517+178T>C (n.3517+178T>C) c.*3409T>C (n.*3409T>C) c.3512T>C (p.Phe1171Ser) c.3695T>C (p.Phe1232Ser) c.*348T>C (n.*348T>C) c.*356T>C (n.*356T>C) c.*2070T>C (n.*2070T>C) c.3689T>C (p.Phe1230Ser) c.*3519T>C (n.*3519T>C) c.3269T>C (p.Phe1090Ser) c.443T>C (p.Phe148Ser) c.1482T>C (n.1482T>C) c.277T>C c.1167+178T>C c.2477T>C (p.Phe826Ser) c.3605T>C (p.Phe1202Ser) c.520T>C c.3785T>C (p.Phe1262Ser) c.3452T>C (p.Phe1151Ser) | |
7 | g.117627748T>G | CA368997524 | CFTR | c.3517+178T>G (n.3517+178T>G) c.*3409T>G (n.*3409T>G) c.3512T>G (p.Phe1171Cys) c.3695T>G (p.Phe1232Cys) c.*348T>G (n.*348T>G) c.*356T>G (n.*356T>G) c.*2070T>G (n.*2070T>G) c.3689T>G (p.Phe1230Cys) c.*3519T>G (n.*3519T>G) c.3269T>G (p.Phe1090Cys) c.443T>G (p.Phe148Cys) c.1482T>G (n.1482T>G) c.277T>G c.1167+178T>G c.2477T>G (p.Phe826Cys) c.3605T>G (p.Phe1202Cys) c.520T>G c.3785T>G (p.Phe1262Cys) c.3452T>G (p.Phe1151Cys) | |
7 | g.117627750_117627751del | CA915940567 | CFTR | c.3517+180_3517+181del (n.3517+180_3517+181del) c.*3411_*3412del (n.*3411_*3412del) c.3514_3515del (p.Ser1172AsnfsTer?) c.3697_3698del (p.Ser1233AsnfsTer?) c.*350_*351del (n.*350_*351del) c.*358_*359del (n.*358_*359del) c.*2072_*2073del (n.*2072_*2073del) c.3691_3692del (p.Ser1231AsnfsTer?) c.*3521_*3522del (n.*3521_*3522del) c.3271_3272del (p.Ser1091AsnfsTer?) c.445_446del (p.Ser149AsnfsTer?) c.1484_1485del (n.1484_1485del) c.279_280del c.1167+180_1167+181del c.2479_2480del (p.Ser827AsnfsTer10) c.3514_3515del (p.Ser1172AsnfsTer10) c.3607_3608del (p.Ser1203AsnfsTer?) c.522_523del c.3787_3788del (p.Ser1263AsnfsTer?) c.3454_3455del (p.Ser1152AsnfsTer?) | ClinVar dbSNP |
7 | g.117627749C>A | CA368997527 | CFTR | c.3517+179C>A (n.3517+179C>A) c.*3410C>A (n.*3410C>A) c.3513C>A (p.Phe1171Leu) c.3696C>A (p.Phe1232Leu) c.*349C>A (n.*349C>A) c.*357C>A (n.*357C>A) c.*2071C>A (n.*2071C>A) c.3690C>A (p.Phe1230Leu) c.*3520C>A (n.*3520C>A) c.3270C>A (p.Phe1090Leu) c.444C>A (p.Phe148Leu) c.1483C>A (n.1483C>A) c.278C>A c.1167+179C>A c.2478C>A (p.Phe826Leu) c.3606C>A (p.Phe1202Leu) c.521C>A c.3786C>A (p.Phe1262Leu) c.3453C>A (p.Phe1151Leu) | gnomAD v4 |
7 | g.117627749C>G | CA368997529 | CFTR | c.3517+179C>G (n.3517+179C>G) c.*3410C>G (n.*3410C>G) c.3513C>G (p.Phe1171Leu) c.3696C>G (p.Phe1232Leu) c.*349C>G (n.*349C>G) c.*357C>G (n.*357C>G) c.*2071C>G (n.*2071C>G) c.3690C>G (p.Phe1230Leu) c.*3520C>G (n.*3520C>G) c.3270C>G (p.Phe1090Leu) c.444C>G (p.Phe148Leu) c.1483C>G (n.1483C>G) c.278C>G c.1167+179C>G c.2478C>G (p.Phe826Leu) c.3606C>G (p.Phe1202Leu) c.521C>G c.3786C>G (p.Phe1262Leu) c.3453C>G (p.Phe1151Leu) | |
7 | g.117627749C>T | CA457231478 | CFTR | c.3517+179C>T (n.3517+179C>T) c.*3410C>T (n.*3410C>T) c.3513C>T (p.Phe1171=) c.3696C>T (p.Phe1232=) c.*349C>T (n.*349C>T) c.*357C>T (n.*357C>T) c.*2071C>T (n.*2071C>T) c.3690C>T (p.Phe1230=) c.*3520C>T (n.*3520C>T) c.3270C>T (p.Phe1090=) c.444C>T (p.Phe148=) c.1483C>T (n.1483C>T) c.278C>T c.1167+179C>T c.2478C>T (p.Phe826=) c.3606C>T (p.Phe1202=) c.521C>T c.3786C>T (p.Phe1262=) c.3453C>T (p.Phe1151=) | dbSNP |
7 | g.117627750T>A | CA368997532 | CFTR | c.3517+180T>A (n.3517+180T>A) c.*3411T>A (n.*3411T>A) c.3514T>A (p.Ser1172Thr) c.3697T>A (p.Ser1233Thr) c.*350T>A (n.*350T>A) c.*358T>A (n.*358T>A) c.*2072T>A (n.*2072T>A) c.3691T>A (p.Ser1231Thr) c.*3521T>A (n.*3521T>A) c.3271T>A (p.Ser1091Thr) c.445T>A (p.Ser149Thr) c.1484T>A (n.1484T>A) c.279T>A c.1167+180T>A c.2479T>A (p.Ser827Thr) c.3607T>A (p.Ser1203Thr) c.522T>A c.3787T>A (p.Ser1263Thr) c.3454T>A (p.Ser1152Thr) | |
7 | g.117627750T>C | CA368997533 | CFTR | c.3517+180T>C (n.3517+180T>C) c.*3411T>C (n.*3411T>C) c.3514T>C (p.Ser1172Pro) c.3697T>C (p.Ser1233Pro) c.*350T>C (n.*350T>C) c.*358T>C (n.*358T>C) c.*2072T>C (n.*2072T>C) c.3691T>C (p.Ser1231Pro) c.*3521T>C (n.*3521T>C) c.3271T>C (p.Ser1091Pro) c.445T>C (p.Ser149Pro) c.1484T>C (n.1484T>C) c.279T>C c.1167+180T>C c.2479T>C (p.Ser827Pro) c.3607T>C (p.Ser1203Pro) c.522T>C c.3787T>C (p.Ser1263Pro) c.3454T>C (p.Ser1152Pro) | ClinVar gnomAD v4 |
7 | g.117627750T>G | CA368997535 | CFTR | c.3517+180T>G (n.3517+180T>G) c.*3411T>G (n.*3411T>G) c.3514T>G (p.Ser1172Ala) c.3697T>G (p.Ser1233Ala) c.*350T>G (n.*350T>G) c.*358T>G (n.*358T>G) c.*2072T>G (n.*2072T>G) c.3691T>G (p.Ser1231Ala) c.*3521T>G (n.*3521T>G) c.3271T>G (p.Ser1091Ala) c.445T>G (p.Ser149Ala) c.1484T>G (n.1484T>G) c.279T>G c.1167+180T>G c.2479T>G (p.Ser827Ala) c.3607T>G (p.Ser1203Ala) c.522T>G c.3787T>G (p.Ser1263Ala) c.3454T>G (p.Ser1152Ala) | |
7 | g.117627751C>A | CA368997537 | CFTR | c.3517+181C>A (n.3517+181C>A) c.*3412C>A (n.*3412C>A) c.3515C>A (p.Ser1172Ter) c.3698C>A (p.Ser1233Ter) c.*351C>A (n.*351C>A) c.*359C>A (n.*359C>A) c.*2073C>A (n.*2073C>A) c.3692C>A (p.Ser1231Ter) c.*3522C>A (n.*3522C>A) c.3272C>A (p.Ser1091Ter) c.446C>A (p.Ser149Ter) c.1485C>A (n.1485C>A) c.280C>A c.1167+181C>A c.2480C>A (p.Ser827Ter) c.3608C>A (p.Ser1203Ter) c.523C>A c.3788C>A (p.Ser1263Ter) c.3455C>A (p.Ser1152Ter) | gnomAD v4 |
7 | g.117627751C>G | CA368997541 | CFTR | c.3517+181C>G (n.3517+181C>G) c.*3412C>G (n.*3412C>G) c.3515C>G (p.Ser1172Ter) c.3698C>G (p.Ser1233Ter) c.*351C>G (n.*351C>G) c.*359C>G (n.*359C>G) c.*2073C>G (n.*2073C>G) c.3692C>G (p.Ser1231Ter) c.*3522C>G (n.*3522C>G) c.3272C>G (p.Ser1091Ter) c.446C>G (p.Ser149Ter) c.1485C>G (n.1485C>G) c.280C>G c.1167+181C>G c.2480C>G (p.Ser827Ter) c.3608C>G (p.Ser1203Ter) c.523C>G c.3788C>G (p.Ser1263Ter) c.3455C>G (p.Ser1152Ter) | |
7 | g.117627751C>T | CA368997539 | CFTR | c.3517+181C>T (n.3517+181C>T) c.*3412C>T (n.*3412C>T) c.3515C>T (p.Ser1172Leu) c.3698C>T (p.Ser1233Leu) c.*351C>T (n.*351C>T) c.*359C>T (n.*359C>T) c.*2073C>T (n.*2073C>T) c.3692C>T (p.Ser1231Leu) c.*3522C>T (n.*3522C>T) c.3272C>T (p.Ser1091Leu) c.446C>T (p.Ser149Leu) c.1485C>T (n.1485C>T) c.280C>T c.1167+181C>T c.2480C>T (p.Ser827Leu) c.3608C>T (p.Ser1203Leu) c.523C>T c.3788C>T (p.Ser1263Leu) c.3455C>T (p.Ser1152Leu) | gnomAD v4 |
7 | g.117627752A= | CA1737398723 | CFTR | c.3517+182A= (n.3517+182A=) c.*3413A= (n.*3413A=) c.3516A= (p.Ser1172=) c.3699A= (p.Ser1233=) c.*352A= (n.*352A=) c.*360A= (n.*360A=) c.*2074A= (n.*2074A=) c.3693A= (p.Ser1231=) c.*3523A= (n.*3523A=) c.3273A= (p.Ser1091=) c.447A= (p.Ser149=) c.1486A= (n.1486A=) c.281A= c.1167+182A= c.2481A= (p.Ser827=) c.3609A= (p.Ser1203=) c.524A= c.3789A= (p.Ser1263=) c.3456A= (p.Ser1152=) | |
7 | g.117627752A>C | CA457231479 | CFTR | c.3517+182A>C (n.3517+182A>C) c.*3413A>C (n.*3413A>C) c.3516A>C (p.Ser1172=) c.3699A>C (p.Ser1233=) c.*352A>C (n.*352A>C) c.*360A>C (n.*360A>C) c.*2074A>C (n.*2074A>C) c.3693A>C (p.Ser1231=) c.*3523A>C (n.*3523A>C) c.3273A>C (p.Ser1091=) c.447A>C (p.Ser149=) c.1486A>C (n.1486A>C) c.281A>C c.1167+182A>C c.2481A>C (p.Ser827=) c.3609A>C (p.Ser1203=) c.524A>C c.3789A>C (p.Ser1263=) c.3456A>C (p.Ser1152=) | |
7 | g.117627752A>G | CA457231480 | CFTR | c.3517+182A>G (n.3517+182A>G) c.*3413A>G (n.*3413A>G) c.3516A>G (p.Ser1172=) c.3699A>G (p.Ser1233=) c.*352A>G (n.*352A>G) c.*360A>G (n.*360A>G) c.*2074A>G (n.*2074A>G) c.3693A>G (p.Ser1231=) c.*3523A>G (n.*3523A>G) c.3273A>G (p.Ser1091=) c.447A>G (p.Ser149=) c.1486A>G (n.1486A>G) c.281A>G c.1167+182A>G c.2481A>G (p.Ser827=) c.3609A>G (p.Ser1203=) c.524A>G c.3789A>G (p.Ser1263=) c.3456A>G (p.Ser1152=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117627752A>T | CA457231481 | CFTR | c.3517+182A>T (n.3517+182A>T) c.*3413A>T (n.*3413A>T) c.3516A>T (p.Ser1172=) c.3699A>T (p.Ser1233=) c.*352A>T (n.*352A>T) c.*360A>T (n.*360A>T) c.*2074A>T (n.*2074A>T) c.3693A>T (p.Ser1231=) c.*3523A>T (n.*3523A>T) c.3273A>T (p.Ser1091=) c.447A>T (p.Ser149=) c.1486A>T (n.1486A>T) c.281A>T c.1167+182A>T c.2481A>T (p.Ser827=) c.3609A>T (p.Ser1203=) c.524A>T c.3789A>T (p.Ser1263=) c.3456A>T (p.Ser1152=) | |
7 | g.117627753A= | CA1737398724 | CFTR | c.3517+183A= (n.3517+183A=) c.*3414A= (n.*3414A=) c.3517A= (p.Ile1173=) c.3700A= (p.Ile1234=) c.*353A= (n.*353A=) c.*361A= (n.*361A=) c.*2075A= (n.*2075A=) c.3694A= (p.Ile1232=) c.*3524A= (n.*3524A=) c.3274A= (p.Ile1092=) c.448A= (p.Ile150=) c.1487A= (n.1487A=) c.282A= c.1167+183A= c.2482A= (p.Ile828=) c.3610A= (p.Ile1204=) c.525A= c.3790A= (p.Ile1264=) c.3457A= (p.Ile1153=) | |
7 | g.117627753A>C | CA368997543 | CFTR | c.3517+183A>C (n.3517+183A>C) c.*3414A>C (n.*3414A>C) c.3517A>C (p.Ile1173Leu) c.3700A>C (p.Ile1234Leu) c.*353A>C (n.*353A>C) c.*361A>C (n.*361A>C) c.*2075A>C (n.*2075A>C) c.3694A>C (p.Ile1232Leu) c.*3524A>C (n.*3524A>C) c.3274A>C (p.Ile1092Leu) c.448A>C (p.Ile150Leu) c.1487A>C (n.1487A>C) c.282A>C c.1167+183A>C c.2482A>C (p.Ile828Leu) c.3610A>C (p.Ile1204Leu) c.525A>C c.3790A>C (p.Ile1264Leu) c.3457A>C (p.Ile1153Leu) | |
7 | g.117627753A>G | CA325601 | CFTR | c.3517+183A>G (n.3517+183A>G) c.*3414A>G (n.*3414A>G) c.3517A>G (p.Ile1173Val) c.3700A>G (p.Ile1234Val) c.*353A>G (n.*353A>G) c.*361A>G (n.*361A>G) c.*2075A>G (n.*2075A>G) c.3694A>G (p.Ile1232Val) c.*3524A>G (n.*3524A>G) c.3274A>G (p.Ile1092Val) c.448A>G (p.Ile150Val) c.1487A>G (n.1487A>G) c.282A>G c.1167+183A>G c.2482A>G (p.Ile828Val) c.3610A>G (p.Ile1204Val) c.525A>G c.3790A>G (p.Ile1264Val) c.3457A>G (p.Ile1153Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627753A>T | CA368997545 | CFTR | c.3517+183A>T (n.3517+183A>T) c.*3414A>T (n.*3414A>T) c.3517A>T (p.Ile1173Leu) c.3700A>T (p.Ile1234Leu) c.*353A>T (n.*353A>T) c.*361A>T (n.*361A>T) c.*2075A>T (n.*2075A>T) c.3694A>T (p.Ile1232Leu) c.*3524A>T (n.*3524A>T) c.3274A>T (p.Ile1092Leu) c.448A>T (p.Ile150Leu) c.1487A>T (n.1487A>T) c.282A>T c.1167+183A>T c.2482A>T (p.Ile828Leu) c.3610A>T (p.Ile1204Leu) c.525A>T c.3790A>T (p.Ile1264Leu) c.3457A>T (p.Ile1153Leu) | |
7 | g.117627754T>A | CA368997548 | CFTR | c.3517+184T>A (n.3517+184T>A) c.*3415T>A (n.*3415T>A) c.3518T>A (p.Ile1173Lys) c.3701T>A (p.Ile1234Lys) c.*354T>A (n.*354T>A) c.*362T>A (n.*362T>A) c.*2076T>A (n.*2076T>A) c.3695T>A (p.Ile1232Lys) c.*3525T>A (n.*3525T>A) c.3275T>A (p.Ile1092Lys) c.449T>A (p.Ile150Lys) c.1488T>A (n.1488T>A) c.283T>A c.1167+184T>A c.2483T>A (p.Ile828Lys) c.3611T>A (p.Ile1204Lys) c.526T>A c.3791T>A (p.Ile1264Lys) c.3458T>A (p.Ile1153Lys) | |
7 | g.117627754T>C | CA368997550 | CFTR | c.3517+184T>C (n.3517+184T>C) c.*3415T>C (n.*3415T>C) c.3518T>C (p.Ile1173Thr) c.3701T>C (p.Ile1234Thr) c.*354T>C (n.*354T>C) c.*362T>C (n.*362T>C) c.*2076T>C (n.*2076T>C) c.3695T>C (p.Ile1232Thr) c.*3525T>C (n.*3525T>C) c.3275T>C (p.Ile1092Thr) c.449T>C (p.Ile150Thr) c.1488T>C (n.1488T>C) c.283T>C c.1167+184T>C c.2483T>C (p.Ile828Thr) c.3611T>C (p.Ile1204Thr) c.526T>C c.3791T>C (p.Ile1264Thr) c.3458T>C (p.Ile1153Thr) | |
7 | g.117627754T>G | CA368997552 | CFTR | c.3517+184T>G (n.3517+184T>G) c.*3415T>G (n.*3415T>G) c.3518T>G (p.Ile1173Arg) c.3701T>G (p.Ile1234Arg) c.*354T>G (n.*354T>G) c.*362T>G (n.*362T>G) c.*2076T>G (n.*2076T>G) c.3695T>G (p.Ile1232Arg) c.*3525T>G (n.*3525T>G) c.3275T>G (p.Ile1092Arg) c.449T>G (p.Ile150Arg) c.1488T>G (n.1488T>G) c.283T>G c.1167+184T>G c.2483T>G (p.Ile828Arg) c.3611T>G (p.Ile1204Arg) c.526T>G c.3791T>G (p.Ile1264Arg) c.3458T>G (p.Ile1153Arg) | |
7 | g.117627755A>C | CA457231482 | CFTR | c.3517+185A>C (n.3517+185A>C) c.*3416A>C (n.*3416A>C) c.3519A>C (p.Ile1173=) c.3702A>C (p.Ile1234=) c.*355A>C (n.*355A>C) c.*363A>C (n.*363A>C) c.*2077A>C (n.*2077A>C) c.3696A>C (p.Ile1232=) c.*3526A>C (n.*3526A>C) c.3276A>C (p.Ile1092=) c.450A>C (p.Ile150=) c.1489A>C (n.1489A>C) c.284A>C c.1167+185A>C c.2484A>C (p.Ile828=) c.3612A>C (p.Ile1204=) c.527A>C c.3792A>C (p.Ile1264=) c.3459A>C (p.Ile1153=) | |
7 | g.117627755A>G | CA368997554 | CFTR | c.3517+185A>G (n.3517+185A>G) c.*3416A>G (n.*3416A>G) c.3519A>G (p.Ile1173Met) c.3702A>G (p.Ile1234Met) c.*355A>G (n.*355A>G) c.*363A>G (n.*363A>G) c.*2077A>G (n.*2077A>G) c.3696A>G (p.Ile1232Met) c.*3526A>G (n.*3526A>G) c.3276A>G (p.Ile1092Met) c.450A>G (p.Ile150Met) c.1489A>G (n.1489A>G) c.284A>G c.1167+185A>G c.2484A>G (p.Ile828Met) c.3612A>G (p.Ile1204Met) c.527A>G c.3792A>G (p.Ile1264Met) c.3459A>G (p.Ile1153Met) | |
7 | g.117627755A>T | CA457231483 | CFTR | c.3517+185A>T (n.3517+185A>T) c.*3416A>T (n.*3416A>T) c.3519A>T (p.Ile1173=) c.3702A>T (p.Ile1234=) c.*355A>T (n.*355A>T) c.*363A>T (n.*363A>T) c.*2077A>T (n.*2077A>T) c.3696A>T (p.Ile1232=) c.*3526A>T (n.*3526A>T) c.3276A>T (p.Ile1092=) c.450A>T (p.Ile150=) c.1489A>T (n.1489A>T) c.284A>T c.1167+185A>T c.2484A>T (p.Ile828=) c.3612A>T (p.Ile1204=) c.527A>T c.3792A>T (p.Ile1264=) c.3459A>T (p.Ile1153=) | |
7 | g.117627756A>C | CA368997556 | CFTR | c.3517+186A>C (n.3517+186A>C) c.*3417A>C (n.*3417A>C) c.3520A>C (p.Ser1174Arg) c.3703A>C (p.Ser1235Arg) c.*356A>C (n.*356A>C) c.*364A>C (n.*364A>C) c.*2078A>C (n.*2078A>C) c.3697A>C (p.Ser1233Arg) c.*3527A>C (n.*3527A>C) c.3277A>C (p.Ser1093Arg) c.451A>C (p.Ser151Arg) c.1490A>C (n.1490A>C) c.285A>C c.1167+186A>C c.2485A>C (p.Ser829Arg) c.3613A>C (p.Ser1205Arg) c.528A>C c.3793A>C (p.Ser1265Arg) c.3460A>C (p.Ser1154Arg) | |
7 | g.117627756A>G | CA368997558 | CFTR | c.3517+186A>G (n.3517+186A>G) c.*3417A>G (n.*3417A>G) c.3520A>G (p.Ser1174Gly) c.3703A>G (p.Ser1235Gly) c.*356A>G (n.*356A>G) c.*364A>G (n.*364A>G) c.*2078A>G (n.*2078A>G) c.3697A>G (p.Ser1233Gly) c.*3527A>G (n.*3527A>G) c.3277A>G (p.Ser1093Gly) c.451A>G (p.Ser151Gly) c.1490A>G (n.1490A>G) c.285A>G c.1167+186A>G c.2485A>G (p.Ser829Gly) c.3613A>G (p.Ser1205Gly) c.528A>G c.3793A>G (p.Ser1265Gly) c.3460A>G (p.Ser1154Gly) | |
7 | g.117627756A>T | CA368997560 | CFTR | c.3517+186A>T (n.3517+186A>T) c.*3417A>T (n.*3417A>T) c.3520A>T (p.Ser1174Cys) c.3703A>T (p.Ser1235Cys) c.*356A>T (n.*356A>T) c.*364A>T (n.*364A>T) c.*2078A>T (n.*2078A>T) c.3697A>T (p.Ser1233Cys) c.*3527A>T (n.*3527A>T) c.3277A>T (p.Ser1093Cys) c.451A>T (p.Ser151Cys) c.1490A>T (n.1490A>T) c.285A>T c.1167+186A>T c.2485A>T (p.Ser829Cys) c.3613A>T (p.Ser1205Cys) c.528A>T c.3793A>T (p.Ser1265Cys) c.3460A>T (p.Ser1154Cys) | |
7 | g.117627757G>A | CA368997562 | CFTR | c.3517+187G>A (n.3517+187G>A) c.*3418G>A (n.*3418G>A) c.3521G>A (p.Ser1174Asn) c.3704G>A (p.Ser1235Asn) c.*357G>A (n.*357G>A) c.*365G>A (n.*365G>A) c.*2079G>A (n.*2079G>A) c.3698G>A (p.Ser1233Asn) c.*3528G>A (n.*3528G>A) c.3278G>A (p.Ser1093Asn) c.452G>A (p.Ser151Asn) c.1491G>A (n.1491G>A) c.286G>A c.1167+187G>A c.2486G>A (p.Ser829Asn) c.3614G>A (p.Ser1205Asn) c.529G>A c.3794G>A (p.Ser1265Asn) c.3461G>A (p.Ser1154Asn) | |
7 | g.117627757G>C | CA368997564 | CFTR | c.3517+187G>C (n.3517+187G>C) c.*3418G>C (n.*3418G>C) c.3521G>C (p.Ser1174Thr) c.3704G>C (p.Ser1235Thr) c.*357G>C (n.*357G>C) c.*365G>C (n.*365G>C) c.*2079G>C (n.*2079G>C) c.3698G>C (p.Ser1233Thr) c.*3528G>C (n.*3528G>C) c.3278G>C (p.Ser1093Thr) c.452G>C (p.Ser151Thr) c.1491G>C (n.1491G>C) c.286G>C c.1167+187G>C c.2486G>C (p.Ser829Thr) c.3614G>C (p.Ser1205Thr) c.529G>C c.3794G>C (p.Ser1265Thr) c.3461G>C (p.Ser1154Thr) | gnomAD v4 |
7 | g.117627757G>T | CA368997566 | CFTR | c.3517+187G>T (n.3517+187G>T) c.*3418G>T (n.*3418G>T) c.3521G>T (p.Ser1174Ile) c.3704G>T (p.Ser1235Ile) c.*357G>T (n.*357G>T) c.*365G>T (n.*365G>T) c.*2079G>T (n.*2079G>T) c.3698G>T (p.Ser1233Ile) c.*3528G>T (n.*3528G>T) c.3278G>T (p.Ser1093Ile) c.452G>T (p.Ser151Ile) c.1491G>T (n.1491G>T) c.286G>T c.1167+187G>T c.2486G>T (p.Ser829Ile) c.3614G>T (p.Ser1205Ile) c.529G>T c.3794G>T (p.Ser1265Ile) c.3461G>T (p.Ser1154Ile) | |
7 | g.117627758T>A | CA368997568 | CFTR | c.3517+188T>A (n.3517+188T>A) c.*3419T>A (n.*3419T>A) c.3522T>A (p.Ser1174Arg) c.3705T>A (p.Ser1235Arg) c.*358T>A (n.*358T>A) c.*366T>A (n.*366T>A) c.*2080T>A (n.*2080T>A) c.3699T>A (p.Ser1233Arg) c.*3529T>A (n.*3529T>A) c.3279T>A (p.Ser1093Arg) c.453T>A (p.Ser151Arg) c.1492T>A (n.1492T>A) c.287T>A c.1167+188T>A c.2487T>A (p.Ser829Arg) c.3615T>A (p.Ser1205Arg) c.530T>A c.3795T>A (p.Ser1265Arg) c.3462T>A (p.Ser1154Arg) | |
7 | g.117627758T>C | CA457231484 | CFTR | c.3517+188T>C (n.3517+188T>C) c.*3419T>C (n.*3419T>C) c.3522T>C (p.Ser1174=) c.3705T>C (p.Ser1235=) c.*358T>C (n.*358T>C) c.*366T>C (n.*366T>C) c.*2080T>C (n.*2080T>C) c.3699T>C (p.Ser1233=) c.*3529T>C (n.*3529T>C) c.3279T>C (p.Ser1093=) c.453T>C (p.Ser151=) c.1492T>C (n.1492T>C) c.287T>C c.1167+188T>C c.2487T>C (p.Ser829=) c.3615T>C (p.Ser1205=) c.530T>C c.3795T>C (p.Ser1265=) c.3462T>C (p.Ser1154=) | |
7 | g.117627758T>G | CA090908 | CFTR | c.3517+188T>G (n.3517+188T>G) c.*3419T>G (n.*3419T>G) c.3522T>G (p.Ser1174Arg) c.3705T>G (p.Ser1235Arg) c.*358T>G (n.*358T>G) c.*366T>G (n.*366T>G) c.*2080T>G (n.*2080T>G) c.3699T>G (p.Ser1233Arg) c.*3529T>G (n.*3529T>G) c.3279T>G (p.Ser1093Arg) c.453T>G (p.Ser151Arg) c.1492T>G (n.1492T>G) c.287T>G c.1167+188T>G c.2487T>G (p.Ser829Arg) c.3615T>G (p.Ser1205Arg) c.530T>G c.3795T>G (p.Ser1265Arg) c.3462T>G (p.Ser1154Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627758T= | CA1737398725 | CFTR | c.3517+188T= (n.3517+188T=) c.*3419T= (n.*3419T=) c.3522T= (p.Ser1174=) c.3705T= (p.Ser1235=) c.*358T= (n.*358T=) c.*366T= (n.*366T=) c.*2080T= (n.*2080T=) c.3699T= (p.Ser1233=) c.*3529T= (n.*3529T=) c.3279T= (p.Ser1093=) c.453T= (p.Ser151=) c.1492T= (n.1492T=) c.287T= c.1167+188T= c.2487T= (p.Ser829=) c.3615T= (p.Ser1205=) c.530T= c.3795T= (p.Ser1265=) c.3462T= (p.Ser1154=) | |
7 | g.117627759C>A | CA368997571 | CFTR | c.3517+189C>A (n.3517+189C>A) c.*3420C>A (n.*3420C>A) c.3523C>A (p.Pro1175Thr) c.3706C>A (p.Pro1236Thr) c.*359C>A (n.*359C>A) c.*367C>A (n.*367C>A) c.*2081C>A (n.*2081C>A) c.3700C>A (p.Pro1234Thr) c.*3530C>A (n.*3530C>A) c.3280C>A (p.Pro1094Thr) c.454C>A (p.Pro152Thr) c.1493C>A (n.1493C>A) c.288C>A c.1167+189C>A c.2488C>A (p.Pro830Thr) c.3616C>A (p.Pro1206Thr) c.531C>A c.3796C>A (p.Pro1266Thr) c.3463C>A (p.Pro1155Thr) | |
7 | g.117627759C>G | CA368997575 | CFTR | c.3517+189C>G (n.3517+189C>G) c.*3420C>G (n.*3420C>G) c.3523C>G (p.Pro1175Ala) c.3706C>G (p.Pro1236Ala) c.*359C>G (n.*359C>G) c.*367C>G (n.*367C>G) c.*2081C>G (n.*2081C>G) c.3700C>G (p.Pro1234Ala) c.*3530C>G (n.*3530C>G) c.3280C>G (p.Pro1094Ala) c.454C>G (p.Pro152Ala) c.1493C>G (n.1493C>G) c.288C>G c.1167+189C>G c.2488C>G (p.Pro830Ala) c.3616C>G (p.Pro1206Ala) c.531C>G c.3796C>G (p.Pro1266Ala) c.3463C>G (p.Pro1155Ala) | ClinVar COSMIC |
7 | g.117627759C>T | CA368997573 | CFTR | c.3517+189C>T (n.3517+189C>T) c.*3420C>T (n.*3420C>T) c.3523C>T (p.Pro1175Ser) c.3706C>T (p.Pro1236Ser) c.*359C>T (n.*359C>T) c.*367C>T (n.*367C>T) c.*2081C>T (n.*2081C>T) c.3700C>T (p.Pro1234Ser) c.*3530C>T (n.*3530C>T) c.3280C>T (p.Pro1094Ser) c.454C>T (p.Pro152Ser) c.1493C>T (n.1493C>T) c.288C>T c.1167+189C>T c.2488C>T (p.Pro830Ser) c.3616C>T (p.Pro1206Ser) c.531C>T c.3796C>T (p.Pro1266Ser) c.3463C>T (p.Pro1155Ser) | gnomAD v4 |
7 | g.117627760C>A | CA368997577 | CFTR | c.3517+190C>A (n.3517+190C>A) c.*3421C>A (n.*3421C>A) c.3524C>A (p.Pro1175His) c.3707C>A (p.Pro1236His) c.*360C>A (n.*360C>A) c.*368C>A (n.*368C>A) c.*2082C>A (n.*2082C>A) c.3701C>A (p.Pro1234His) c.*3531C>A (n.*3531C>A) c.3281C>A (p.Pro1094His) c.455C>A (p.Pro152His) c.1494C>A (n.1494C>A) c.289C>A c.1167+190C>A c.2489C>A (p.Pro830His) c.3617C>A (p.Pro1206His) c.532C>A c.3797C>A (p.Pro1266His) c.3464C>A (p.Pro1155His) | |
7 | g.117627760C>G | CA368997578 | CFTR | c.3517+190C>G (n.3517+190C>G) c.*3421C>G (n.*3421C>G) c.3524C>G (p.Pro1175Arg) c.3707C>G (p.Pro1236Arg) c.*360C>G (n.*360C>G) c.*368C>G (n.*368C>G) c.*2082C>G (n.*2082C>G) c.3701C>G (p.Pro1234Arg) c.*3531C>G (n.*3531C>G) c.3281C>G (p.Pro1094Arg) c.455C>G (p.Pro152Arg) c.1494C>G (n.1494C>G) c.289C>G c.1167+190C>G c.2489C>G (p.Pro830Arg) c.3617C>G (p.Pro1206Arg) c.532C>G c.3797C>G (p.Pro1266Arg) c.3464C>G (p.Pro1155Arg) | |
7 | g.117627760C>T | CA368997580 | CFTR | c.3517+190C>T (n.3517+190C>T) c.*3421C>T (n.*3421C>T) c.3524C>T (p.Pro1175Leu) c.3707C>T (p.Pro1236Leu) c.*360C>T (n.*360C>T) c.*368C>T (n.*368C>T) c.*2082C>T (n.*2082C>T) c.3701C>T (p.Pro1234Leu) c.*3531C>T (n.*3531C>T) c.3281C>T (p.Pro1094Leu) c.455C>T (p.Pro152Leu) c.1494C>T (n.1494C>T) c.289C>T c.1167+190C>T c.2489C>T (p.Pro830Leu) c.3617C>T (p.Pro1206Leu) c.532C>T c.3797C>T (p.Pro1266Leu) c.3464C>T (p.Pro1155Leu) | |
7 | g.117627761del | CA2695208384 | CFTR | c.3517+191del (n.3517+191del) c.*3422del (n.*3422del) c.3525del (p.Gly1176AlafsTer22) c.3708del (p.Gly1237AlafsTer22) c.*361del (n.*361del) c.*369del (n.*369del) c.*2083del (n.*2083del) c.3702del (p.Gly1235AlafsTer22) c.*3532del (n.*3532del) c.3282del (p.Gly1095AlafsTer22) c.456del (p.Gly153AlafsTer22) c.1495del (n.1495del) c.290del c.1167+191del c.2490del (p.Gly831AlafsTer4) c.3525del (p.Gly1176AlafsTer4) c.3618del (p.Gly1207AlafsTer22) c.533del c.3798del (p.Gly1267AlafsTer22) c.3465del (p.Gly1156AlafsTer22) | |
7 | g.117627761T>A | CA457231486 | CFTR | c.3517+191T>A (n.3517+191T>A) c.*3422T>A (n.*3422T>A) c.3525T>A (p.Pro1175=) c.3708T>A (p.Pro1236=) c.*361T>A (n.*361T>A) c.*369T>A (n.*369T>A) c.*2083T>A (n.*2083T>A) c.3702T>A (p.Pro1234=) c.*3532T>A (n.*3532T>A) c.3282T>A (p.Pro1094=) c.456T>A (p.Pro152=) c.1495T>A (n.1495T>A) c.290T>A c.1167+191T>A c.2490T>A (p.Pro830=) c.3618T>A (p.Pro1206=) c.533T>A c.3798T>A (p.Pro1266=) c.3465T>A (p.Pro1155=) | |
7 | g.117627761T>C | CA457231487 | CFTR | c.3517+191T>C (n.3517+191T>C) c.*3422T>C (n.*3422T>C) c.3525T>C (p.Pro1175=) c.3708T>C (p.Pro1236=) c.*361T>C (n.*361T>C) c.*369T>C (n.*369T>C) c.*2083T>C (n.*2083T>C) c.3702T>C (p.Pro1234=) c.*3532T>C (n.*3532T>C) c.3282T>C (p.Pro1094=) c.456T>C (p.Pro152=) c.1495T>C (n.1495T>C) c.290T>C c.1167+191T>C c.2490T>C (p.Pro830=) c.3618T>C (p.Pro1206=) c.533T>C c.3798T>C (p.Pro1266=) c.3465T>C (p.Pro1155=) | |
7 | g.117627761T>G | CA457231488 | CFTR | c.3517+191T>G (n.3517+191T>G) c.*3422T>G (n.*3422T>G) c.3525T>G (p.Pro1175=) c.3708T>G (p.Pro1236=) c.*361T>G (n.*361T>G) c.*369T>G (n.*369T>G) c.*2083T>G (n.*2083T>G) c.3702T>G (p.Pro1234=) c.*3532T>G (n.*3532T>G) c.3282T>G (p.Pro1094=) c.456T>G (p.Pro152=) c.1495T>G (n.1495T>G) c.290T>G c.1167+191T>G c.2490T>G (p.Pro830=) c.3618T>G (p.Pro1206=) c.533T>G c.3798T>G (p.Pro1266=) c.3465T>G (p.Pro1155=) | |
7 | g.117627762G>A | CA368997583 | CFTR | c.3517+192G>A (n.3517+192G>A) c.*3423G>A (n.*3423G>A) c.3526G>A (p.Gly1176Ser) c.3709G>A (p.Gly1237Ser) c.*362G>A (n.*362G>A) c.*370G>A (n.*370G>A) c.*2084G>A (n.*2084G>A) c.3703G>A (p.Gly1235Ser) c.*3533G>A (n.*3533G>A) c.3283G>A (p.Gly1095Ser) c.457G>A (p.Gly153Ser) c.1496G>A (n.1496G>A) c.291G>A c.1167+192G>A c.2491G>A (p.Gly831Ser) c.3619G>A (p.Gly1207Ser) c.534G>A c.3799G>A (p.Gly1267Ser) c.3466G>A (p.Gly1156Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117627762G>C | CA368997584 | CFTR | c.3517+192G>C (n.3517+192G>C) c.*3423G>C (n.*3423G>C) c.3526G>C (p.Gly1176Arg) c.3709G>C (p.Gly1237Arg) c.*362G>C (n.*362G>C) c.*370G>C (n.*370G>C) c.*2084G>C (n.*2084G>C) c.3703G>C (p.Gly1235Arg) c.*3533G>C (n.*3533G>C) c.3283G>C (p.Gly1095Arg) c.457G>C (p.Gly153Arg) c.1496G>C (n.1496G>C) c.291G>C c.1167+192G>C c.2491G>C (p.Gly831Arg) c.3619G>C (p.Gly1207Arg) c.534G>C c.3799G>C (p.Gly1267Arg) c.3466G>C (p.Gly1156Arg) | |
7 | g.117627762G= | CA1737398726 | CFTR | c.3517+192G= (n.3517+192G=) c.*3423G= (n.*3423G=) c.3526G= (p.Gly1176=) c.3709G= (p.Gly1237=) c.*362G= (n.*362G=) c.*370G= (n.*370G=) c.*2084G= (n.*2084G=) c.3703G= (p.Gly1235=) c.*3533G= (n.*3533G=) c.3283G= (p.Gly1095=) c.457G= (p.Gly153=) c.1496G= (n.1496G=) c.291G= c.1167+192G= c.2491G= (p.Gly831=) c.3619G= (p.Gly1207=) c.534G= c.3799G= (p.Gly1267=) c.3466G= (p.Gly1156=) | |
7 | g.117627762G>T | CA368997586 | CFTR | c.3517+192G>T (n.3517+192G>T) c.*3423G>T (n.*3423G>T) c.3526G>T (p.Gly1176Cys) c.3709G>T (p.Gly1237Cys) c.*362G>T (n.*362G>T) c.*370G>T (n.*370G>T) c.*2084G>T (n.*2084G>T) c.3703G>T (p.Gly1235Cys) c.*3533G>T (n.*3533G>T) c.3283G>T (p.Gly1095Cys) c.457G>T (p.Gly153Cys) c.1496G>T (n.1496G>T) c.291G>T c.1167+192G>T c.2491G>T (p.Gly831Cys) c.3619G>T (p.Gly1207Cys) c.534G>T c.3799G>T (p.Gly1267Cys) c.3466G>T (p.Gly1156Cys) | |
7 | g.117627763G>A | CA4451518 | CFTR | c.3517+193G>A (n.3517+193G>A) c.*3424G>A (n.*3424G>A) c.3527G>A (p.Gly1176Asp) c.3710G>A (p.Gly1237Asp) c.*363G>A (n.*363G>A) c.*371G>A (n.*371G>A) c.*2085G>A (n.*2085G>A) c.3704G>A (p.Gly1235Asp) c.*3534G>A (n.*3534G>A) c.3284G>A (p.Gly1095Asp) c.458G>A (p.Gly153Asp) c.1497G>A (n.1497G>A) c.292G>A c.1167+193G>A c.2492G>A (p.Gly831Asp) c.3620G>A (p.Gly1207Asp) c.535G>A c.3800G>A (p.Gly1267Asp) c.3467G>A (p.Gly1156Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117627763G>C | CA368997589 | CFTR | c.3517+193G>C (n.3517+193G>C) c.*3424G>C (n.*3424G>C) c.3527G>C (p.Gly1176Ala) c.3710G>C (p.Gly1237Ala) c.*363G>C (n.*363G>C) c.*371G>C (n.*371G>C) c.*2085G>C (n.*2085G>C) c.3704G>C (p.Gly1235Ala) c.*3534G>C (n.*3534G>C) c.3284G>C (p.Gly1095Ala) c.458G>C (p.Gly153Ala) c.1497G>C (n.1497G>C) c.292G>C c.1167+193G>C c.2492G>C (p.Gly831Ala) c.3620G>C (p.Gly1207Ala) c.535G>C c.3800G>C (p.Gly1267Ala) c.3467G>C (p.Gly1156Ala) | |
7 | g.117627763G= | CA1737398727 | CFTR | c.3517+193G= (n.3517+193G=) c.*3424G= (n.*3424G=) c.3527G= (p.Gly1176=) c.3710G= (p.Gly1237=) c.*363G= (n.*363G=) c.*371G= (n.*371G=) c.*2085G= (n.*2085G=) c.3704G= (p.Gly1235=) c.*3534G= (n.*3534G=) c.3284G= (p.Gly1095=) c.458G= (p.Gly153=) c.1497G= (n.1497G=) c.292G= c.1167+193G= c.2492G= (p.Gly831=) c.3620G= (p.Gly1207=) c.535G= c.3800G= (p.Gly1267=) c.3467G= (p.Gly1156=) | |
7 | g.117627763G>T | CA368997591 | CFTR | c.3517+193G>T (n.3517+193G>T) c.*3424G>T (n.*3424G>T) c.3527G>T (p.Gly1176Val) c.3710G>T (p.Gly1237Val) c.*363G>T (n.*363G>T) c.*371G>T (n.*371G>T) c.*2085G>T (n.*2085G>T) c.3704G>T (p.Gly1235Val) c.*3534G>T (n.*3534G>T) c.3284G>T (p.Gly1095Val) c.458G>T (p.Gly153Val) c.1497G>T (n.1497G>T) c.292G>T c.1167+193G>T c.2492G>T (p.Gly831Val) c.3620G>T (p.Gly1207Val) c.535G>T c.3800G>T (p.Gly1267Val) c.3467G>T (p.Gly1156Val) | dbSNP gnomAD v2 |
7 | g.117627764C>A | CA457231489 | CFTR | c.3517+194C>A (n.3517+194C>A) c.*3425C>A (n.*3425C>A) c.3528C>A (p.Gly1176=) c.3711C>A (p.Gly1237=) c.*364C>A (n.*364C>A) c.*372C>A (n.*372C>A) c.*2086C>A (n.*2086C>A) c.3705C>A (p.Gly1235=) c.*3535C>A (n.*3535C>A) c.3285C>A (p.Gly1095=) c.459C>A (p.Gly153=) c.1498C>A (n.1498C>A) c.293C>A c.1167+194C>A c.2493C>A (p.Gly831=) c.3621C>A (p.Gly1207=) c.536C>A c.3801C>A (p.Gly1267=) c.3468C>A (p.Gly1156=) | ClinVar dbSNP |
7 | g.117627764C= | CA1737398728 | CFTR | c.3517+194C= (n.3517+194C=) c.*3425C= (n.*3425C=) c.3528C= (p.Gly1176=) c.3711C= (p.Gly1237=) c.*364C= (n.*364C=) c.*372C= (n.*372C=) c.*2086C= (n.*2086C=) c.3705C= (p.Gly1235=) c.*3535C= (n.*3535C=) c.3285C= (p.Gly1095=) c.459C= (p.Gly153=) c.1498C= (n.1498C=) c.293C= c.1167+194C= c.2493C= (p.Gly831=) c.3621C= (p.Gly1207=) c.536C= c.3801C= (p.Gly1267=) c.3468C= (p.Gly1156=) | |
7 | g.117627764C>G | CA457231490 | CFTR | c.3517+194C>G (n.3517+194C>G) c.*3425C>G (n.*3425C>G) c.3528C>G (p.Gly1176=) c.3711C>G (p.Gly1237=) c.*364C>G (n.*364C>G) c.*372C>G (n.*372C>G) c.*2086C>G (n.*2086C>G) c.3705C>G (p.Gly1235=) c.*3535C>G (n.*3535C>G) c.3285C>G (p.Gly1095=) c.459C>G (p.Gly153=) c.1498C>G (n.1498C>G) c.293C>G c.1167+194C>G c.2493C>G (p.Gly831=) c.3621C>G (p.Gly1207=) c.536C>G c.3801C>G (p.Gly1267=) c.3468C>G (p.Gly1156=) | ClinVar |
7 | g.117627764C>T | CA457231491 | CFTR | c.3517+194C>T (n.3517+194C>T) c.*3425C>T (n.*3425C>T) c.3528C>T (p.Gly1176=) c.3711C>T (p.Gly1237=) c.*364C>T (n.*364C>T) c.*372C>T (n.*372C>T) c.*2086C>T (n.*2086C>T) c.3705C>T (p.Gly1235=) c.*3535C>T (n.*3535C>T) c.3285C>T (p.Gly1095=) c.459C>T (p.Gly153=) c.1498C>T (n.1498C>T) c.293C>T c.1167+194C>T c.2493C>T (p.Gly831=) c.3621C>T (p.Gly1207=) c.536C>T c.3801C>T (p.Gly1267=) c.3468C>T (p.Gly1156=) | ClinVar dbSNP gnomAD v4 |
7 | g.117627765C>A | CA4451519 | CFTR | c.3517+195C>A (n.3517+195C>A) c.*3426C>A (n.*3426C>A) c.3529C>A (p.Gln1177Lys) c.3712C>A (p.Gln1238Lys) c.*365C>A (n.*365C>A) c.*373C>A (n.*373C>A) c.*2087C>A (n.*2087C>A) c.3706C>A (p.Gln1236Lys) c.*3536C>A (n.*3536C>A) c.3286C>A (p.Gln1096Lys) c.460C>A (p.Gln154Lys) c.1499C>A (n.1499C>A) c.294C>A c.1167+195C>A c.2494C>A (p.Gln832Lys) c.3622C>A (p.Gln1208Lys) c.537C>A c.3802C>A (p.Gln1268Lys) c.3469C>A (p.Gln1157Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117627765C= | CA1737398729 | CFTR | c.3517+195C= (n.3517+195C=) c.*3426C= (n.*3426C=) c.3529C= (p.Gln1177=) c.3712C= (p.Gln1238=) c.*365C= (n.*365C=) c.*373C= (n.*373C=) c.*2087C= (n.*2087C=) c.3706C= (p.Gln1236=) c.*3536C= (n.*3536C=) c.3286C= (p.Gln1096=) c.460C= (p.Gln154=) c.1499C= (n.1499C=) c.294C= c.1167+195C= c.2494C= (p.Gln832=) c.3622C= (p.Gln1208=) c.537C= c.3802C= (p.Gln1268=) c.3469C= (p.Gln1157=) | |
7 | g.117627765C>G | CA368997595 | CFTR | c.3517+195C>G (n.3517+195C>G) c.*3426C>G (n.*3426C>G) c.3529C>G (p.Gln1177Glu) c.3712C>G (p.Gln1238Glu) c.*365C>G (n.*365C>G) c.*373C>G (n.*373C>G) c.*2087C>G (n.*2087C>G) c.3706C>G (p.Gln1236Glu) c.*3536C>G (n.*3536C>G) c.3286C>G (p.Gln1096Glu) c.460C>G (p.Gln154Glu) c.1499C>G (n.1499C>G) c.294C>G c.1167+195C>G c.2494C>G (p.Gln832Glu) c.3622C>G (p.Gln1208Glu) c.537C>G c.3802C>G (p.Gln1268Glu) c.3469C>G (p.Gln1157Glu) | |
7 | g.117627765C>T | CA325566 | CFTR | c.3517+195C>T (n.3517+195C>T) c.*3426C>T (n.*3426C>T) c.3529C>T (p.Gln1177Ter) c.3712C>T (p.Gln1238Ter) c.*365C>T (n.*365C>T) c.*373C>T (n.*373C>T) c.*2087C>T (n.*2087C>T) c.3706C>T (p.Gln1236Ter) c.*3536C>T (n.*3536C>T) c.3286C>T (p.Gln1096Ter) c.460C>T (p.Gln154Ter) c.1499C>T (n.1499C>T) c.294C>T c.1167+195C>T c.2494C>T (p.Gln832Ter) c.3622C>T (p.Gln1208Ter) c.537C>T c.3802C>T (p.Gln1268Ter) c.3469C>T (p.Gln1157Ter) | ClinVar dbSNP |