| 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.117627617_117627643dup | CA2580614244 | CFTR | c.3517+47_3517+73dup (n.3517+47_3517+73dup) c.*3278_*3304dup (n.*3278_*3304dup) c.3381_3407dup (p.Ser1135_His1136insGlnLysValMetIleIleGluAsnSer) c.3564_3590dup (p.Ser1196_His1197insGlnLysValMetIleIleGluAsnSer) c.*217_*243dup (n.*217_*243dup) c.*225_*251dup (n.*225_*251dup) c.*1939_*1965dup (n.*1939_*1965dup) c.3558_3584dup (p.Ser1194_His1195insGlnLysValMetIleIleGluAsnSer) c.*3388_*3414dup (n.*3388_*3414dup) c.3138_3164dup (p.Ser1054_His1055insGlnLysValMetIleIleGluAsnSer) c.312_338dup (p.Ser112_His113insGlnLysValMetIleIleGluAsnSer) c.1351_1377dup (n.1351_1377dup) c.146_172dup c.1167+47_1167+73dup c.2346_2372dup (p.Ser790_His791insGlnLysValMetIleIleGluAsnSer) c.3474_3500dup (p.Ser1166_His1167insGlnLysValMetIleIleGluAsnSer) c.389_415dup c.3654_3680dup (p.Ser1226_His1227insGlnLysValMetIleIleGluAsnSer) c.3321_3347dup (p.Ser1115_His1116insGlnLysValMetIleIleGluAsnSer) | ClinVar |
| 7 | g.117627640C>A | CA368997066 | CFTR | c.3517+70C>A (n.3517+70C>A) c.*3301C>A (n.*3301C>A) c.3404C>A (p.Ser1135Ter) c.3587C>A (p.Ser1196Ter) c.*240C>A (n.*240C>A) c.*248C>A (n.*248C>A) c.*1962C>A (n.*1962C>A) c.3581C>A (p.Ser1194Ter) c.*3411C>A (n.*3411C>A) c.3161C>A (p.Ser1054Ter) c.335C>A (p.Ser112Ter) c.1374C>A (n.1374C>A) c.169C>A c.1167+70C>A c.2369C>A (p.Ser790Ter) c.3497C>A (p.Ser1166Ter) c.412C>A c.3677C>A (p.Ser1226Ter) c.3344C>A (p.Ser1115Ter) | ClinVar dbSNP COSMIC |
| 7 | g.117627640C= | CA1737398662 | CFTR | c.3517+70C= (n.3517+70C=) c.*3301C= (n.*3301C=) c.3404C= (p.Ser1135=) c.3587C= (p.Ser1196=) c.*240C= (n.*240C=) c.*248C= (n.*248C=) c.*1962C= (n.*1962C=) c.3581C= (p.Ser1194=) c.*3411C= (n.*3411C=) c.3161C= (p.Ser1054=) c.335C= (p.Ser112=) c.1374C= (n.1374C=) c.169C= c.1167+70C= c.2369C= (p.Ser790=) c.3497C= (p.Ser1166=) c.412C= c.3677C= (p.Ser1226=) c.3344C= (p.Ser1115=) | |
| 7 | g.117627640C>G | CA328116 | CFTR | c.3517+70C>G (n.3517+70C>G) c.*3301C>G (n.*3301C>G) c.3404C>G (p.Ser1135Ter) c.3587C>G (p.Ser1196Ter) c.*240C>G (n.*240C>G) c.*248C>G (n.*248C>G) c.*1962C>G (n.*1962C>G) c.3581C>G (p.Ser1194Ter) c.*3411C>G (n.*3411C>G) c.3161C>G (p.Ser1054Ter) c.335C>G (p.Ser112Ter) c.1374C>G (n.1374C>G) c.169C>G c.1167+70C>G c.2369C>G (p.Ser790Ter) c.3497C>G (p.Ser1166Ter) c.412C>G c.3677C>G (p.Ser1226Ter) c.3344C>G (p.Ser1115Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627640C>T | CA368997067 | CFTR | c.3517+70C>T (n.3517+70C>T) c.*3301C>T (n.*3301C>T) c.3404C>T (p.Ser1135Leu) c.3587C>T (p.Ser1196Leu) c.*240C>T (n.*240C>T) c.*248C>T (n.*248C>T) c.*1962C>T (n.*1962C>T) c.3581C>T (p.Ser1194Leu) c.*3411C>T (n.*3411C>T) c.3161C>T (p.Ser1054Leu) c.335C>T (p.Ser112Leu) c.1374C>T (n.1374C>T) c.169C>T c.1167+70C>T c.2369C>T (p.Ser790Leu) c.3497C>T (p.Ser1166Leu) c.412C>T c.3677C>T (p.Ser1226Leu) c.3344C>T (p.Ser1115Leu) | |
| 7 | g.117627641A= | CA1737398663 | CFTR | c.3517+71A= (n.3517+71A=) c.*3302A= (n.*3302A=) c.3405A= (p.Ser1135=) c.3588A= (p.Ser1196=) c.*241A= (n.*241A=) c.*249A= (n.*249A=) c.*1963A= (n.*1963A=) c.3582A= (p.Ser1194=) c.*3412A= (n.*3412A=) c.3162A= (p.Ser1054=) c.336A= (p.Ser112=) c.1375A= (n.1375A=) c.170A= c.1167+71A= c.2370A= (p.Ser790=) c.3498A= (p.Ser1166=) c.413A= c.3678A= (p.Ser1226=) c.3345A= (p.Ser1115=) | |
| 7 | g.117627641A>C | CA457231399 | CFTR | c.3517+71A>C (n.3517+71A>C) c.*3302A>C (n.*3302A>C) c.3405A>C (p.Ser1135=) c.3588A>C (p.Ser1196=) c.*241A>C (n.*241A>C) c.*249A>C (n.*249A>C) c.*1963A>C (n.*1963A>C) c.3582A>C (p.Ser1194=) c.*3412A>C (n.*3412A>C) c.3162A>C (p.Ser1054=) c.336A>C (p.Ser112=) c.1375A>C (n.1375A>C) c.170A>C c.1167+71A>C c.2370A>C (p.Ser790=) c.3498A>C (p.Ser1166=) c.413A>C c.3678A>C (p.Ser1226=) c.3345A>C (p.Ser1115=) | |
| 7 | g.117627641A>G | CA4451501 | CFTR | c.3517+71A>G (n.3517+71A>G) c.*3302A>G (n.*3302A>G) c.3405A>G (p.Ser1135=) c.3588A>G (p.Ser1196=) c.*241A>G (n.*241A>G) c.*249A>G (n.*249A>G) c.*1963A>G (n.*1963A>G) c.3582A>G (p.Ser1194=) c.*3412A>G (n.*3412A>G) c.3162A>G (p.Ser1054=) c.336A>G (p.Ser112=) c.1375A>G (n.1375A>G) c.170A>G c.1167+71A>G c.2370A>G (p.Ser790=) c.3498A>G (p.Ser1166=) c.413A>G c.3678A>G (p.Ser1226=) c.3345A>G (p.Ser1115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627641A>T | CA457231400 | CFTR | c.3517+71A>T (n.3517+71A>T) c.*3302A>T (n.*3302A>T) c.3405A>T (p.Ser1135=) c.3588A>T (p.Ser1196=) c.*241A>T (n.*241A>T) c.*249A>T (n.*249A>T) c.*1963A>T (n.*1963A>T) c.3582A>T (p.Ser1194=) c.*3412A>T (n.*3412A>T) c.3162A>T (p.Ser1054=) c.336A>T (p.Ser112=) c.1375A>T (n.1375A>T) c.170A>T c.1167+71A>T c.2370A>T (p.Ser790=) c.3498A>T (p.Ser1166=) c.413A>T c.3678A>T (p.Ser1226=) c.3345A>T (p.Ser1115=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627642C>A | CA368997072 | CFTR | c.3517+72C>A (n.3517+72C>A) c.*3303C>A (n.*3303C>A) c.3406C>A (p.His1136Asn) c.3589C>A (p.His1197Asn) c.*242C>A (n.*242C>A) c.*250C>A (n.*250C>A) c.*1964C>A (n.*1964C>A) c.3583C>A (p.His1195Asn) c.*3413C>A (n.*3413C>A) c.3163C>A (p.His1055Asn) c.337C>A (p.His113Asn) c.1376C>A (n.1376C>A) c.171C>A c.1167+72C>A c.2371C>A (p.His791Asn) c.3499C>A (p.His1167Asn) c.414C>A c.3679C>A (p.His1227Asn) c.3346C>A (p.His1116Asn) | |
| 7 | g.117627642C>G | CA368997074 | CFTR | c.3517+72C>G (n.3517+72C>G) c.*3303C>G (n.*3303C>G) c.3406C>G (p.His1136Asp) c.3589C>G (p.His1197Asp) c.*242C>G (n.*242C>G) c.*250C>G (n.*250C>G) c.*1964C>G (n.*1964C>G) c.3583C>G (p.His1195Asp) c.*3413C>G (n.*3413C>G) c.3163C>G (p.His1055Asp) c.337C>G (p.His113Asp) c.1376C>G (n.1376C>G) c.171C>G c.1167+72C>G c.2371C>G (p.His791Asp) c.3499C>G (p.His1167Asp) c.414C>G c.3679C>G (p.His1227Asp) c.3346C>G (p.His1116Asp) | |
| 7 | g.117627642C>T | CA368997076 | CFTR | c.3517+72C>T (n.3517+72C>T) c.*3303C>T (n.*3303C>T) c.3406C>T (p.His1136Tyr) c.3589C>T (p.His1197Tyr) c.*242C>T (n.*242C>T) c.*250C>T (n.*250C>T) c.*1964C>T (n.*1964C>T) c.3583C>T (p.His1195Tyr) c.*3413C>T (n.*3413C>T) c.3163C>T (p.His1055Tyr) c.337C>T (p.His113Tyr) c.1376C>T (n.1376C>T) c.171C>T c.1167+72C>T c.2371C>T (p.His791Tyr) c.3499C>T (p.His1167Tyr) c.414C>T c.3679C>T (p.His1227Tyr) c.3346C>T (p.His1116Tyr) | |
| 7 | g.117627643del | CA2684620081 | CFTR | c.3517+73del (n.3517+73del) c.*3304del (n.*3304del) c.3407del (p.His1136ProfsTer2) c.3590del (p.His1197ProfsTer2) c.*243del (n.*243del) c.*251del (n.*251del) c.*1965del (n.*1965del) c.3584del (p.His1195ProfsTer2) c.*3414del (n.*3414del) c.3164del (p.His1055ProfsTer2) c.338del (p.His113ProfsTer2) c.1377del (n.1377del) c.172del c.1167+73del c.2372del (p.His791ProfsTer2) c.3500del (p.His1167ProfsTer2) c.415del c.3680del (p.His1227ProfsTer2) c.3347del (p.His1116ProfsTer2) | gnomAD v4 |
| 7 | g.117627643A= | CA1737398664 | CFTR | c.3517+73A= (n.3517+73A=) c.*3304A= (n.*3304A=) c.3407A= (p.His1136=) c.3590A= (p.His1197=) c.*243A= (n.*243A=) c.*251A= (n.*251A=) c.*1965A= (n.*1965A=) c.3584A= (p.His1195=) c.*3414A= (n.*3414A=) c.3164A= (p.His1055=) c.338A= (p.His113=) c.1377A= (n.1377A=) c.172A= c.1167+73A= c.2372A= (p.His791=) c.3500A= (p.His1167=) c.415A= c.3680A= (p.His1227=) c.3347A= (p.His1116=) | |
| 7 | g.117627643A>C | CA368997077 | CFTR | c.3517+73A>C (n.3517+73A>C) c.*3304A>C (n.*3304A>C) c.3407A>C (p.His1136Pro) c.3590A>C (p.His1197Pro) c.*243A>C (n.*243A>C) c.*251A>C (n.*251A>C) c.*1965A>C (n.*1965A>C) c.3584A>C (p.His1195Pro) c.*3414A>C (n.*3414A>C) c.3164A>C (p.His1055Pro) c.338A>C (p.His113Pro) c.1377A>C (n.1377A>C) c.172A>C c.1167+73A>C c.2372A>C (p.His791Pro) c.3500A>C (p.His1167Pro) c.415A>C c.3680A>C (p.His1227Pro) c.3347A>C (p.His1116Pro) | |
| 7 | g.117627643A>G | CA4451502 | CFTR | c.3517+73A>G (n.3517+73A>G) c.*3304A>G (n.*3304A>G) c.3407A>G (p.His1136Arg) c.3590A>G (p.His1197Arg) c.*243A>G (n.*243A>G) c.*251A>G (n.*251A>G) c.*1965A>G (n.*1965A>G) c.3584A>G (p.His1195Arg) c.*3414A>G (n.*3414A>G) c.3164A>G (p.His1055Arg) c.338A>G (p.His113Arg) c.1377A>G (n.1377A>G) c.172A>G c.1167+73A>G c.2372A>G (p.His791Arg) c.3500A>G (p.His1167Arg) c.415A>G c.3680A>G (p.His1227Arg) c.3347A>G (p.His1116Arg) | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.117627643A>T | CA4451503 | CFTR | c.3517+73A>T (n.3517+73A>T) c.*3304A>T (n.*3304A>T) c.3407A>T (p.His1136Leu) c.3590A>T (p.His1197Leu) c.*243A>T (n.*243A>T) c.*251A>T (n.*251A>T) c.*1965A>T (n.*1965A>T) c.3584A>T (p.His1195Leu) c.*3414A>T (n.*3414A>T) c.3164A>T (p.His1055Leu) c.338A>T (p.His113Leu) c.1377A>T (n.1377A>T) c.172A>T c.1167+73A>T c.2372A>T (p.His791Leu) c.3500A>T (p.His1167Leu) c.415A>T c.3680A>T (p.His1227Leu) c.3347A>T (p.His1116Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627644C>A | CA368997081 | CFTR | c.3517+74C>A (n.3517+74C>A) c.*3305C>A (n.*3305C>A) c.3408C>A (p.His1136Gln) c.3591C>A (p.His1197Gln) c.*244C>A (n.*244C>A) c.*252C>A (n.*252C>A) c.*1966C>A (n.*1966C>A) c.3585C>A (p.His1195Gln) c.*3415C>A (n.*3415C>A) c.3165C>A (p.His1055Gln) c.339C>A (p.His113Gln) c.1378C>A (n.1378C>A) c.173C>A c.1167+74C>A c.2373C>A (p.His791Gln) c.3501C>A (p.His1167Gln) c.416C>A c.3681C>A (p.His1227Gln) c.3348C>A (p.His1116Gln) | |
| 7 | g.117627644C= | CA1737398666 | CFTR | c.3517+74C= (n.3517+74C=) c.*3305C= (n.*3305C=) c.3408C= (p.His1136=) c.3591C= (p.His1197=) c.*244C= (n.*244C=) c.*252C= (n.*252C=) c.*1966C= (n.*1966C=) c.3585C= (p.His1195=) c.*3415C= (n.*3415C=) c.3165C= (p.His1055=) c.339C= (p.His113=) c.1378C= (n.1378C=) c.173C= c.1167+74C= c.2373C= (p.His791=) c.3501C= (p.His1167=) c.416C= c.3681C= (p.His1227=) c.3348C= (p.His1116=) | |
| 7 | g.117627644C>G | CA368997083 | CFTR | c.3517+74C>G (n.3517+74C>G) c.*3305C>G (n.*3305C>G) c.3408C>G (p.His1136Gln) c.3591C>G (p.His1197Gln) c.*244C>G (n.*244C>G) c.*252C>G (n.*252C>G) c.*1966C>G (n.*1966C>G) c.3585C>G (p.His1195Gln) c.*3415C>G (n.*3415C>G) c.3165C>G (p.His1055Gln) c.339C>G (p.His113Gln) c.1378C>G (n.1378C>G) c.173C>G c.1167+74C>G c.2373C>G (p.His791Gln) c.3501C>G (p.His1167Gln) c.416C>G c.3681C>G (p.His1227Gln) c.3348C>G (p.His1116Gln) | |
| 7 | g.117627644C>T | CA457231405 | CFTR | c.3517+74C>T (n.3517+74C>T) c.*3305C>T (n.*3305C>T) c.3408C>T (p.His1136=) c.3591C>T (p.His1197=) c.*244C>T (n.*244C>T) c.*252C>T (n.*252C>T) c.*1966C>T (n.*1966C>T) c.3585C>T (p.His1195=) c.*3415C>T (n.*3415C>T) c.3165C>T (p.His1055=) c.339C>T (p.His113=) c.1378C>T (n.1378C>T) c.173C>T c.1167+74C>T c.2373C>T (p.His791=) c.3501C>T (p.His1167=) c.416C>T c.3681C>T (p.His1227=) c.3348C>T (p.His1116=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627644_117627645delinsCG | CA1737398665 | CFTR | c.3517+74_3517+75delinsCG (n.3517+74_3517+75delinsCG) c.*3305_*3306delinsCG (n.*3305_*3306delinsCG) c.3408_3409delinsCG (p.His1136=) c.3591_3592delinsCG (p.His1197=) c.*244_*245delinsCG (n.*244_*245delinsCG) c.*252_*253delinsCG (n.*252_*253delinsCG) c.*1966_*1967delinsCG (n.*1966_*1967delinsCG) c.3585_3586delinsCG (p.His1195=) c.*3415_*3416delinsCG (n.*3415_*3416delinsCG) c.3165_3166delinsCG (p.His1055=) c.339_340delinsCG (p.His113=) c.1378_1379delinsCG (n.1378_1379delinsCG) c.173_174delinsCG c.1167+74_1167+75delinsCG c.2373_2374delinsCG (p.His791=) c.3501_3502delinsCG (p.His1167=) c.416_417delinsCG c.3681_3682delinsCG (p.His1227=) c.3348_3349delinsCG (p.His1116=) | |
| 7 | g.117627645del | CA327236 | CFTR | c.3517+75del (n.3517+75del) c.*3306del (n.*3306del) c.3409del (p.Val1137Ter) c.3592del (p.Val1198Ter) c.*245del (n.*245del) c.*253del (n.*253del) c.*1967del (n.*1967del) c.3586del (p.Val1196Ter) c.*3416del (n.*3416del) c.3166del (p.Val1056Ter) c.340del (p.Val114Ter) c.1379del (n.1379del) c.174del c.1167+75del c.2374del (p.Val792Ter) c.3502del (p.Val1168Ter) c.417del c.3682del (p.Val1228Ter) c.3349del (p.Val1117Ter) | ClinVar dbSNP |
| 7 | g.117627645G>A | CA4451504 | CFTR | c.3517+75G>A (n.3517+75G>A) c.*3306G>A (n.*3306G>A) c.3409G>A (p.Val1137Met) c.3592G>A (p.Val1198Met) c.*245G>A (n.*245G>A) c.*253G>A (n.*253G>A) c.*1967G>A (n.*1967G>A) c.3586G>A (p.Val1196Met) c.*3416G>A (n.*3416G>A) c.3166G>A (p.Val1056Met) c.340G>A (p.Val114Met) c.1379G>A (n.1379G>A) c.174G>A c.1167+75G>A c.2374G>A (p.Val792Met) c.3502G>A (p.Val1168Met) c.417G>A c.3682G>A (p.Val1228Met) c.3349G>A (p.Val1117Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627645G>C | CA368997088 | CFTR | c.3517+75G>C (n.3517+75G>C) c.*3306G>C (n.*3306G>C) c.3409G>C (p.Val1137Leu) c.3592G>C (p.Val1198Leu) c.*245G>C (n.*245G>C) c.*253G>C (n.*253G>C) c.*1967G>C (n.*1967G>C) c.3586G>C (p.Val1196Leu) c.*3416G>C (n.*3416G>C) c.3166G>C (p.Val1056Leu) c.340G>C (p.Val114Leu) c.1379G>C (n.1379G>C) c.174G>C c.1167+75G>C c.2374G>C (p.Val792Leu) c.3502G>C (p.Val1168Leu) c.417G>C c.3682G>C (p.Val1228Leu) c.3349G>C (p.Val1117Leu) | |
| 7 | g.117627645G= | CA1737398667 | CFTR | c.3517+75G= (n.3517+75G=) c.*3306G= (n.*3306G=) c.3409G= (p.Val1137=) c.3592G= (p.Val1198=) c.*245G= (n.*245G=) c.*253G= (n.*253G=) c.*1967G= (n.*1967G=) c.3586G= (p.Val1196=) c.*3416G= (n.*3416G=) c.3166G= (p.Val1056=) c.340G= (p.Val114=) c.1379G= (n.1379G=) c.174G= c.1167+75G= c.2374G= (p.Val792=) c.3502G= (p.Val1168=) c.417G= c.3682G= (p.Val1228=) c.3349G= (p.Val1117=) | |
| 7 | g.117627645G>T | CA4451505 | CFTR | c.3517+75G>T (n.3517+75G>T) c.*3306G>T (n.*3306G>T) c.3409G>T (p.Val1137Leu) c.3592G>T (p.Val1198Leu) c.*245G>T (n.*245G>T) c.*253G>T (n.*253G>T) c.*1967G>T (n.*1967G>T) c.3586G>T (p.Val1196Leu) c.*3416G>T (n.*3416G>T) c.3166G>T (p.Val1056Leu) c.340G>T (p.Val114Leu) c.1379G>T (n.1379G>T) c.174G>T c.1167+75G>T c.2374G>T (p.Val792Leu) c.3502G>T (p.Val1168Leu) c.417G>T c.3682G>T (p.Val1228Leu) c.3349G>T (p.Val1117Leu) | dbSNP ExAC gnomAD v2 |
| 7 | g.117627646T>A | CA368997093 | CFTR | c.3517+76T>A (n.3517+76T>A) c.*3307T>A (n.*3307T>A) c.3410T>A (p.Val1137Glu) c.3593T>A (p.Val1198Glu) c.*246T>A (n.*246T>A) c.*254T>A (n.*254T>A) c.*1968T>A (n.*1968T>A) c.3587T>A (p.Val1196Glu) c.*3417T>A (n.*3417T>A) c.3167T>A (p.Val1056Glu) c.341T>A (p.Val114Glu) c.1380T>A (n.1380T>A) c.175T>A c.1167+76T>A c.2375T>A (p.Val792Glu) c.3503T>A (p.Val1168Glu) c.418T>A c.3683T>A (p.Val1228Glu) c.3350T>A (p.Val1117Glu) | |
| 7 | g.117627646T>C | CA164976615 | CFTR | c.3517+76T>C (n.3517+76T>C) c.*3307T>C (n.*3307T>C) c.3410T>C (p.Val1137Ala) c.3593T>C (p.Val1198Ala) c.*246T>C (n.*246T>C) c.*254T>C (n.*254T>C) c.*1968T>C (n.*1968T>C) c.3587T>C (p.Val1196Ala) c.*3417T>C (n.*3417T>C) c.3167T>C (p.Val1056Ala) c.341T>C (p.Val114Ala) c.1380T>C (n.1380T>C) c.175T>C c.1167+76T>C c.2375T>C (p.Val792Ala) c.3503T>C (p.Val1168Ala) c.418T>C c.3683T>C (p.Val1228Ala) c.3350T>C (p.Val1117Ala) | dbSNP gnomAD v4 |
| 7 | g.117627646T>G | CA368997091 | CFTR | c.3517+76T>G (n.3517+76T>G) c.*3307T>G (n.*3307T>G) c.3410T>G (p.Val1137Gly) c.3593T>G (p.Val1198Gly) c.*246T>G (n.*246T>G) c.*254T>G (n.*254T>G) c.*1968T>G (n.*1968T>G) c.3587T>G (p.Val1196Gly) c.*3417T>G (n.*3417T>G) c.3167T>G (p.Val1056Gly) c.341T>G (p.Val114Gly) c.1380T>G (n.1380T>G) c.175T>G c.1167+76T>G c.2375T>G (p.Val792Gly) c.3503T>G (p.Val1168Gly) c.418T>G c.3683T>G (p.Val1228Gly) c.3350T>G (p.Val1117Gly) | |
| 7 | g.117627646T= | CA1737398668 | CFTR | c.3517+76T= (n.3517+76T=) c.*3307T= (n.*3307T=) c.3410T= (p.Val1137=) c.3593T= (p.Val1198=) c.*246T= (n.*246T=) c.*254T= (n.*254T=) c.*1968T= (n.*1968T=) c.3587T= (p.Val1196=) c.*3417T= (n.*3417T=) c.3167T= (p.Val1056=) c.341T= (p.Val114=) c.1380T= (n.1380T=) c.175T= c.1167+76T= c.2375T= (p.Val792=) c.3503T= (p.Val1168=) c.418T= c.3683T= (p.Val1228=) c.3350T= (p.Val1117=) | |
| 7 | g.117627647G>A | CA457231409 | CFTR | c.3517+77G>A (n.3517+77G>A) c.*3308G>A (n.*3308G>A) c.3411G>A (p.Val1137=) c.3594G>A (p.Val1198=) c.*247G>A (n.*247G>A) c.*255G>A (n.*255G>A) c.*1969G>A (n.*1969G>A) c.3588G>A (p.Val1196=) c.*3418G>A (n.*3418G>A) c.3168G>A (p.Val1056=) c.342G>A (p.Val114=) c.1381G>A (n.1381G>A) c.176G>A c.1167+77G>A c.2376G>A (p.Val792=) c.3504G>A (p.Val1168=) c.419G>A c.3684G>A (p.Val1228=) c.3351G>A (p.Val1117=) | |
| 7 | g.117627647G>C | CA457231410 | CFTR | c.3517+77G>C (n.3517+77G>C) c.*3308G>C (n.*3308G>C) c.3411G>C (p.Val1137=) c.3594G>C (p.Val1198=) c.*247G>C (n.*247G>C) c.*255G>C (n.*255G>C) c.*1969G>C (n.*1969G>C) c.3588G>C (p.Val1196=) c.*3418G>C (n.*3418G>C) c.3168G>C (p.Val1056=) c.342G>C (p.Val114=) c.1381G>C (n.1381G>C) c.176G>C c.1167+77G>C c.2376G>C (p.Val792=) c.3504G>C (p.Val1168=) c.419G>C c.3684G>C (p.Val1228=) c.3351G>C (p.Val1117=) | |
| 7 | g.117627647G= | CA1737398669 | CFTR | c.3517+77G= (n.3517+77G=) c.*3308G= (n.*3308G=) c.3411G= (p.Val1137=) c.3594G= (p.Val1198=) c.*247G= (n.*247G=) c.*255G= (n.*255G=) c.*1969G= (n.*1969G=) c.3588G= (p.Val1196=) c.*3418G= (n.*3418G=) c.3168G= (p.Val1056=) c.342G= (p.Val114=) c.1381G= (n.1381G=) c.176G= c.1167+77G= c.2376G= (p.Val792=) c.3504G= (p.Val1168=) c.419G= c.3684G= (p.Val1228=) c.3351G= (p.Val1117=) | |
| 7 | g.117627647G>T | CA164976625 | CFTR | c.3517+77G>T (n.3517+77G>T) c.*3308G>T (n.*3308G>T) c.3411G>T (p.Val1137=) c.3594G>T (p.Val1198=) c.*247G>T (n.*247G>T) c.*255G>T (n.*255G>T) c.*1969G>T (n.*1969G>T) c.3588G>T (p.Val1196=) c.*3418G>T (n.*3418G>T) c.3168G>T (p.Val1056=) c.342G>T (p.Val114=) c.1381G>T (n.1381G>T) c.176G>T c.1167+77G>T c.2376G>T (p.Val792=) c.3504G>T (p.Val1168=) c.419G>T c.3684G>T (p.Val1228=) c.3351G>T (p.Val1117=) | dbSNP |
| 7 | g.117627648A>C | CA368997096 | CFTR | c.3517+78A>C (n.3517+78A>C) c.*3309A>C (n.*3309A>C) c.3412A>C (p.Lys1138Gln) c.3595A>C (p.Lys1199Gln) c.*248A>C (n.*248A>C) c.*256A>C (n.*256A>C) c.*1970A>C (n.*1970A>C) c.3589A>C (p.Lys1197Gln) c.*3419A>C (n.*3419A>C) c.3169A>C (p.Lys1057Gln) c.343A>C (p.Lys115Gln) c.1382A>C (n.1382A>C) c.177A>C c.1167+78A>C c.2377A>C (p.Lys793Gln) c.3505A>C (p.Lys1169Gln) c.420A>C c.3685A>C (p.Lys1229Gln) c.3352A>C (p.Lys1118Gln) | ClinVar |
| 7 | g.117627648A>G | CA368997098 | CFTR | c.3517+78A>G (n.3517+78A>G) c.*3309A>G (n.*3309A>G) c.3412A>G (p.Lys1138Glu) c.3595A>G (p.Lys1199Glu) c.*248A>G (n.*248A>G) c.*256A>G (n.*256A>G) c.*1970A>G (n.*1970A>G) c.3589A>G (p.Lys1197Glu) c.*3419A>G (n.*3419A>G) c.3169A>G (p.Lys1057Glu) c.343A>G (p.Lys115Glu) c.1382A>G (n.1382A>G) c.177A>G c.1167+78A>G c.2377A>G (p.Lys793Glu) c.3505A>G (p.Lys1169Glu) c.420A>G c.3685A>G (p.Lys1229Glu) c.3352A>G (p.Lys1118Glu) | |
| 7 | g.117627648A>T | CA368997099 | CFTR | c.3517+78A>T (n.3517+78A>T) c.*3309A>T (n.*3309A>T) c.3412A>T (p.Lys1138Ter) c.3595A>T (p.Lys1199Ter) c.*248A>T (n.*248A>T) c.*256A>T (n.*256A>T) c.*1970A>T (n.*1970A>T) c.3589A>T (p.Lys1197Ter) c.*3419A>T (n.*3419A>T) c.3169A>T (p.Lys1057Ter) c.343A>T (p.Lys115Ter) c.1382A>T (n.1382A>T) c.177A>T c.1167+78A>T c.2377A>T (p.Lys793Ter) c.3505A>T (p.Lys1169Ter) c.420A>T c.3685A>T (p.Lys1229Ter) c.3352A>T (p.Lys1118Ter) | |
| 7 | g.117627649A= | CA1737398670 | CFTR | c.3517+79A= (n.3517+79A=) c.*3310A= (n.*3310A=) c.3413A= (p.Lys1138=) c.3596A= (p.Lys1199=) c.*249A= (n.*249A=) c.*257A= (n.*257A=) c.*1971A= (n.*1971A=) c.3590A= (p.Lys1197=) c.*3420A= (n.*3420A=) c.3170A= (p.Lys1057=) c.344A= (p.Lys115=) c.1383A= (n.1383A=) c.178A= c.1167+79A= c.2378A= (p.Lys793=) c.3506A= (p.Lys1169=) c.421A= c.3686A= (p.Lys1229=) c.3353A= (p.Lys1118=) | |
| 7 | g.117627649A>C | CA368997102 | CFTR | c.3517+79A>C (n.3517+79A>C) c.*3310A>C (n.*3310A>C) c.3413A>C (p.Lys1138Thr) c.3596A>C (p.Lys1199Thr) c.*249A>C (n.*249A>C) c.*257A>C (n.*257A>C) c.*1971A>C (n.*1971A>C) c.3590A>C (p.Lys1197Thr) c.*3420A>C (n.*3420A>C) c.3170A>C (p.Lys1057Thr) c.344A>C (p.Lys115Thr) c.1383A>C (n.1383A>C) c.178A>C c.1167+79A>C c.2378A>C (p.Lys793Thr) c.3506A>C (p.Lys1169Thr) c.421A>C c.3686A>C (p.Lys1229Thr) c.3353A>C (p.Lys1118Thr) | |
| 7 | g.117627649A>G | CA4451506 | CFTR | c.3517+79A>G (n.3517+79A>G) c.*3310A>G (n.*3310A>G) c.3413A>G (p.Lys1138Arg) c.3596A>G (p.Lys1199Arg) c.*249A>G (n.*249A>G) c.*257A>G (n.*257A>G) c.*1971A>G (n.*1971A>G) c.3590A>G (p.Lys1197Arg) c.*3420A>G (n.*3420A>G) c.3170A>G (p.Lys1057Arg) c.344A>G (p.Lys115Arg) c.1383A>G (n.1383A>G) c.178A>G c.1167+79A>G c.2378A>G (p.Lys793Arg) c.3506A>G (p.Lys1169Arg) c.421A>G c.3686A>G (p.Lys1229Arg) c.3353A>G (p.Lys1118Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627649A>T | CA368997100 | CFTR | c.3517+79A>T (n.3517+79A>T) c.*3310A>T (n.*3310A>T) c.3413A>T (p.Lys1138Met) c.3596A>T (p.Lys1199Met) c.*249A>T (n.*249A>T) c.*257A>T (n.*257A>T) c.*1971A>T (n.*1971A>T) c.3590A>T (p.Lys1197Met) c.*3420A>T (n.*3420A>T) c.3170A>T (p.Lys1057Met) c.344A>T (p.Lys115Met) c.1383A>T (n.1383A>T) c.178A>T c.1167+79A>T c.2378A>T (p.Lys793Met) c.3506A>T (p.Lys1169Met) c.421A>T c.3686A>T (p.Lys1229Met) c.3353A>T (p.Lys1118Met) | |
| 7 | g.117627650G>A | CA457231415 | CFTR | c.3517+80G>A (n.3517+80G>A) c.*3311G>A (n.*3311G>A) c.3414G>A (p.Lys1138=) c.3597G>A (p.Lys1199=) c.*250G>A (n.*250G>A) c.*258G>A (n.*258G>A) c.*1972G>A (n.*1972G>A) c.3591G>A (p.Lys1197=) c.*3421G>A (n.*3421G>A) c.3171G>A (p.Lys1057=) c.345G>A (p.Lys115=) c.1384G>A (n.1384G>A) c.179G>A c.1167+80G>A c.2379G>A (p.Lys793=) c.3507G>A (p.Lys1169=) c.422G>A c.3687G>A (p.Lys1229=) c.3354G>A (p.Lys1118=) | |
| 7 | g.117627650G>C | CA368997104 | CFTR | c.3517+80G>C (n.3517+80G>C) c.*3311G>C (n.*3311G>C) c.3414G>C (p.Lys1138Asn) c.3597G>C (p.Lys1199Asn) c.*250G>C (n.*250G>C) c.*258G>C (n.*258G>C) c.*1972G>C (n.*1972G>C) c.3591G>C (p.Lys1197Asn) c.*3421G>C (n.*3421G>C) c.3171G>C (p.Lys1057Asn) c.345G>C (p.Lys115Asn) c.1384G>C (n.1384G>C) c.179G>C c.1167+80G>C c.2379G>C (p.Lys793Asn) c.3507G>C (p.Lys1169Asn) c.422G>C c.3687G>C (p.Lys1229Asn) c.3354G>C (p.Lys1118Asn) | |
| 7 | g.117627650G>T | CA368997106 | CFTR | c.3517+80G>T (n.3517+80G>T) c.*3311G>T (n.*3311G>T) c.3414G>T (p.Lys1138Asn) c.3597G>T (p.Lys1199Asn) c.*250G>T (n.*250G>T) c.*258G>T (n.*258G>T) c.*1972G>T (n.*1972G>T) c.3591G>T (p.Lys1197Asn) c.*3421G>T (n.*3421G>T) c.3171G>T (p.Lys1057Asn) c.345G>T (p.Lys115Asn) c.1384G>T (n.1384G>T) c.179G>T c.1167+80G>T c.2379G>T (p.Lys793Asn) c.3507G>T (p.Lys1169Asn) c.422G>T c.3687G>T (p.Lys1229Asn) c.3354G>T (p.Lys1118Asn) | gnomAD v4 |
| 7 | g.117627650_117627652delinsGAA | CA1737398671 | CFTR | c.3517+80_3517+82delinsGAA (n.3517+80_3517+82delinsGAA) c.*3311_*3313delinsGAA (n.*3311_*3313delinsGAA) c.3414_3416delinsGAA (p.Lys1138=) c.3597_3599delinsGAA (p.Lys1199=) c.*250_*252delinsGAA (n.*250_*252delinsGAA) c.*258_*260delinsGAA (n.*258_*260delinsGAA) c.*1972_*1974delinsGAA (n.*1972_*1974delinsGAA) c.3591_3593delinsGAA (p.Lys1197=) c.*3421_*3423delinsGAA (n.*3421_*3423delinsGAA) c.3171_3173delinsGAA (p.Lys1057=) c.345_347delinsGAA (p.Lys115=) c.1384_1386delinsGAA (n.1384_1386delinsGAA) c.179_181delinsGAA c.1167+80_1167+82delinsGAA c.2379_2381delinsGAA (p.Lys793=) c.3507_3509delinsGAA (p.Lys1169=) c.422_424delinsGAA c.3687_3689delinsGAA (p.Lys1229=) c.3354_3356delinsGAA (p.Lys1118=) |