UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.117627644_117627645delinsCG | CA1737398665 | CFTR | c.3517+74_3517+75delinsCG (n.3517+74_3517+75delinsCG) c.*3305_*3306delinsCG (n.*3305_*3306delinsCG) c.3408_3409delinsCG (p.His1136=) c.3591_3592delinsCG (p.His1197=) c.*244_*245delinsCG (n.*244_*245delinsCG) c.*252_*253delinsCG (n.*252_*253delinsCG) c.*1966_*1967delinsCG (n.*1966_*1967delinsCG) c.3585_3586delinsCG (p.His1195=) c.*3415_*3416delinsCG (n.*3415_*3416delinsCG) c.3165_3166delinsCG (p.His1055=) c.339_340delinsCG (p.His113=) c.1378_1379delinsCG (n.1378_1379delinsCG) c.173_174delinsCG c.1167+74_1167+75delinsCG c.2373_2374delinsCG (p.His791=) c.3501_3502delinsCG (p.His1167=) c.416_417delinsCG c.3681_3682delinsCG (p.His1227=) c.3348_3349delinsCG (p.His1116=) | |
| 7 | g.117627645del | CA327236 | CFTR | c.3517+75del (n.3517+75del) c.*3306del (n.*3306del) c.3409del (p.Val1137Ter) c.3592del (p.Val1198Ter) c.*245del (n.*245del) c.*253del (n.*253del) c.*1967del (n.*1967del) c.3586del (p.Val1196Ter) c.*3416del (n.*3416del) c.3166del (p.Val1056Ter) c.340del (p.Val114Ter) c.1379del (n.1379del) c.174del c.1167+75del c.2374del (p.Val792Ter) c.3502del (p.Val1168Ter) c.417del c.3682del (p.Val1228Ter) c.3349del (p.Val1117Ter) | ClinVar dbSNP |
| 7 | g.117627645G>A | CA4451504 | CFTR | c.3517+75G>A (n.3517+75G>A) c.*3306G>A (n.*3306G>A) c.3409G>A (p.Val1137Met) c.3592G>A (p.Val1198Met) c.*245G>A (n.*245G>A) c.*253G>A (n.*253G>A) c.*1967G>A (n.*1967G>A) c.3586G>A (p.Val1196Met) c.*3416G>A (n.*3416G>A) c.3166G>A (p.Val1056Met) c.340G>A (p.Val114Met) c.1379G>A (n.1379G>A) c.174G>A c.1167+75G>A c.2374G>A (p.Val792Met) c.3502G>A (p.Val1168Met) c.417G>A c.3682G>A (p.Val1228Met) c.3349G>A (p.Val1117Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627645G>C | CA368997088 | CFTR | c.3517+75G>C (n.3517+75G>C) c.*3306G>C (n.*3306G>C) c.3409G>C (p.Val1137Leu) c.3592G>C (p.Val1198Leu) c.*245G>C (n.*245G>C) c.*253G>C (n.*253G>C) c.*1967G>C (n.*1967G>C) c.3586G>C (p.Val1196Leu) c.*3416G>C (n.*3416G>C) c.3166G>C (p.Val1056Leu) c.340G>C (p.Val114Leu) c.1379G>C (n.1379G>C) c.174G>C c.1167+75G>C c.2374G>C (p.Val792Leu) c.3502G>C (p.Val1168Leu) c.417G>C c.3682G>C (p.Val1228Leu) c.3349G>C (p.Val1117Leu) | |
| 7 | g.117627645G= | CA1737398667 | CFTR | c.3517+75G= (n.3517+75G=) c.*3306G= (n.*3306G=) c.3409G= (p.Val1137=) c.3592G= (p.Val1198=) c.*245G= (n.*245G=) c.*253G= (n.*253G=) c.*1967G= (n.*1967G=) c.3586G= (p.Val1196=) c.*3416G= (n.*3416G=) c.3166G= (p.Val1056=) c.340G= (p.Val114=) c.1379G= (n.1379G=) c.174G= c.1167+75G= c.2374G= (p.Val792=) c.3502G= (p.Val1168=) c.417G= c.3682G= (p.Val1228=) c.3349G= (p.Val1117=) | |
| 7 | g.117627645G>T | CA4451505 | CFTR | c.3517+75G>T (n.3517+75G>T) c.*3306G>T (n.*3306G>T) c.3409G>T (p.Val1137Leu) c.3592G>T (p.Val1198Leu) c.*245G>T (n.*245G>T) c.*253G>T (n.*253G>T) c.*1967G>T (n.*1967G>T) c.3586G>T (p.Val1196Leu) c.*3416G>T (n.*3416G>T) c.3166G>T (p.Val1056Leu) c.340G>T (p.Val114Leu) c.1379G>T (n.1379G>T) c.174G>T c.1167+75G>T c.2374G>T (p.Val792Leu) c.3502G>T (p.Val1168Leu) c.417G>T c.3682G>T (p.Val1228Leu) c.3349G>T (p.Val1117Leu) | dbSNP ExAC gnomAD v2 |
| 7 | g.117627646T>A | CA368997093 | CFTR | c.3517+76T>A (n.3517+76T>A) c.*3307T>A (n.*3307T>A) c.3410T>A (p.Val1137Glu) c.3593T>A (p.Val1198Glu) c.*246T>A (n.*246T>A) c.*254T>A (n.*254T>A) c.*1968T>A (n.*1968T>A) c.3587T>A (p.Val1196Glu) c.*3417T>A (n.*3417T>A) c.3167T>A (p.Val1056Glu) c.341T>A (p.Val114Glu) c.1380T>A (n.1380T>A) c.175T>A c.1167+76T>A c.2375T>A (p.Val792Glu) c.3503T>A (p.Val1168Glu) c.418T>A c.3683T>A (p.Val1228Glu) c.3350T>A (p.Val1117Glu) | |
| 7 | g.117627646T>C | CA164976615 | CFTR | c.3517+76T>C (n.3517+76T>C) c.*3307T>C (n.*3307T>C) c.3410T>C (p.Val1137Ala) c.3593T>C (p.Val1198Ala) c.*246T>C (n.*246T>C) c.*254T>C (n.*254T>C) c.*1968T>C (n.*1968T>C) c.3587T>C (p.Val1196Ala) c.*3417T>C (n.*3417T>C) c.3167T>C (p.Val1056Ala) c.341T>C (p.Val114Ala) c.1380T>C (n.1380T>C) c.175T>C c.1167+76T>C c.2375T>C (p.Val792Ala) c.3503T>C (p.Val1168Ala) c.418T>C c.3683T>C (p.Val1228Ala) c.3350T>C (p.Val1117Ala) | dbSNP gnomAD v4 |
| 7 | g.117627646T>G | CA368997091 | CFTR | c.3517+76T>G (n.3517+76T>G) c.*3307T>G (n.*3307T>G) c.3410T>G (p.Val1137Gly) c.3593T>G (p.Val1198Gly) c.*246T>G (n.*246T>G) c.*254T>G (n.*254T>G) c.*1968T>G (n.*1968T>G) c.3587T>G (p.Val1196Gly) c.*3417T>G (n.*3417T>G) c.3167T>G (p.Val1056Gly) c.341T>G (p.Val114Gly) c.1380T>G (n.1380T>G) c.175T>G c.1167+76T>G c.2375T>G (p.Val792Gly) c.3503T>G (p.Val1168Gly) c.418T>G c.3683T>G (p.Val1228Gly) c.3350T>G (p.Val1117Gly) | |
| 7 | g.117627646T= | CA1737398668 | CFTR | c.3517+76T= (n.3517+76T=) c.*3307T= (n.*3307T=) c.3410T= (p.Val1137=) c.3593T= (p.Val1198=) c.*246T= (n.*246T=) c.*254T= (n.*254T=) c.*1968T= (n.*1968T=) c.3587T= (p.Val1196=) c.*3417T= (n.*3417T=) c.3167T= (p.Val1056=) c.341T= (p.Val114=) c.1380T= (n.1380T=) c.175T= c.1167+76T= c.2375T= (p.Val792=) c.3503T= (p.Val1168=) c.418T= c.3683T= (p.Val1228=) c.3350T= (p.Val1117=) | |
| 7 | g.117627647G>A | CA457231409 | CFTR | c.3517+77G>A (n.3517+77G>A) c.*3308G>A (n.*3308G>A) c.3411G>A (p.Val1137=) c.3594G>A (p.Val1198=) c.*247G>A (n.*247G>A) c.*255G>A (n.*255G>A) c.*1969G>A (n.*1969G>A) c.3588G>A (p.Val1196=) c.*3418G>A (n.*3418G>A) c.3168G>A (p.Val1056=) c.342G>A (p.Val114=) c.1381G>A (n.1381G>A) c.176G>A c.1167+77G>A c.2376G>A (p.Val792=) c.3504G>A (p.Val1168=) c.419G>A c.3684G>A (p.Val1228=) c.3351G>A (p.Val1117=) | |
| 7 | g.117627647G>C | CA457231410 | CFTR | c.3517+77G>C (n.3517+77G>C) c.*3308G>C (n.*3308G>C) c.3411G>C (p.Val1137=) c.3594G>C (p.Val1198=) c.*247G>C (n.*247G>C) c.*255G>C (n.*255G>C) c.*1969G>C (n.*1969G>C) c.3588G>C (p.Val1196=) c.*3418G>C (n.*3418G>C) c.3168G>C (p.Val1056=) c.342G>C (p.Val114=) c.1381G>C (n.1381G>C) c.176G>C c.1167+77G>C c.2376G>C (p.Val792=) c.3504G>C (p.Val1168=) c.419G>C c.3684G>C (p.Val1228=) c.3351G>C (p.Val1117=) | |
| 7 | g.117627647G= | CA1737398669 | CFTR | c.3517+77G= (n.3517+77G=) c.*3308G= (n.*3308G=) c.3411G= (p.Val1137=) c.3594G= (p.Val1198=) c.*247G= (n.*247G=) c.*255G= (n.*255G=) c.*1969G= (n.*1969G=) c.3588G= (p.Val1196=) c.*3418G= (n.*3418G=) c.3168G= (p.Val1056=) c.342G= (p.Val114=) c.1381G= (n.1381G=) c.176G= c.1167+77G= c.2376G= (p.Val792=) c.3504G= (p.Val1168=) c.419G= c.3684G= (p.Val1228=) c.3351G= (p.Val1117=) | |
| 7 | g.117627647G>T | CA164976625 | CFTR | c.3517+77G>T (n.3517+77G>T) c.*3308G>T (n.*3308G>T) c.3411G>T (p.Val1137=) c.3594G>T (p.Val1198=) c.*247G>T (n.*247G>T) c.*255G>T (n.*255G>T) c.*1969G>T (n.*1969G>T) c.3588G>T (p.Val1196=) c.*3418G>T (n.*3418G>T) c.3168G>T (p.Val1056=) c.342G>T (p.Val114=) c.1381G>T (n.1381G>T) c.176G>T c.1167+77G>T c.2376G>T (p.Val792=) c.3504G>T (p.Val1168=) c.419G>T c.3684G>T (p.Val1228=) c.3351G>T (p.Val1117=) | dbSNP |
| 7 | g.117627648A>C | CA368997096 | CFTR | c.3517+78A>C (n.3517+78A>C) c.*3309A>C (n.*3309A>C) c.3412A>C (p.Lys1138Gln) c.3595A>C (p.Lys1199Gln) c.*248A>C (n.*248A>C) c.*256A>C (n.*256A>C) c.*1970A>C (n.*1970A>C) c.3589A>C (p.Lys1197Gln) c.*3419A>C (n.*3419A>C) c.3169A>C (p.Lys1057Gln) c.343A>C (p.Lys115Gln) c.1382A>C (n.1382A>C) c.177A>C c.1167+78A>C c.2377A>C (p.Lys793Gln) c.3505A>C (p.Lys1169Gln) c.420A>C c.3685A>C (p.Lys1229Gln) c.3352A>C (p.Lys1118Gln) | ClinVar |
| 7 | g.117627648A>G | CA368997098 | CFTR | c.3517+78A>G (n.3517+78A>G) c.*3309A>G (n.*3309A>G) c.3412A>G (p.Lys1138Glu) c.3595A>G (p.Lys1199Glu) c.*248A>G (n.*248A>G) c.*256A>G (n.*256A>G) c.*1970A>G (n.*1970A>G) c.3589A>G (p.Lys1197Glu) c.*3419A>G (n.*3419A>G) c.3169A>G (p.Lys1057Glu) c.343A>G (p.Lys115Glu) c.1382A>G (n.1382A>G) c.177A>G c.1167+78A>G c.2377A>G (p.Lys793Glu) c.3505A>G (p.Lys1169Glu) c.420A>G c.3685A>G (p.Lys1229Glu) c.3352A>G (p.Lys1118Glu) | |
| 7 | g.117627648A>T | CA368997099 | CFTR | c.3517+78A>T (n.3517+78A>T) c.*3309A>T (n.*3309A>T) c.3412A>T (p.Lys1138Ter) c.3595A>T (p.Lys1199Ter) c.*248A>T (n.*248A>T) c.*256A>T (n.*256A>T) c.*1970A>T (n.*1970A>T) c.3589A>T (p.Lys1197Ter) c.*3419A>T (n.*3419A>T) c.3169A>T (p.Lys1057Ter) c.343A>T (p.Lys115Ter) c.1382A>T (n.1382A>T) c.177A>T c.1167+78A>T c.2377A>T (p.Lys793Ter) c.3505A>T (p.Lys1169Ter) c.420A>T c.3685A>T (p.Lys1229Ter) c.3352A>T (p.Lys1118Ter) | |
| 7 | g.117627649A= | CA1737398670 | CFTR | c.3517+79A= (n.3517+79A=) c.*3310A= (n.*3310A=) c.3413A= (p.Lys1138=) c.3596A= (p.Lys1199=) c.*249A= (n.*249A=) c.*257A= (n.*257A=) c.*1971A= (n.*1971A=) c.3590A= (p.Lys1197=) c.*3420A= (n.*3420A=) c.3170A= (p.Lys1057=) c.344A= (p.Lys115=) c.1383A= (n.1383A=) c.178A= c.1167+79A= c.2378A= (p.Lys793=) c.3506A= (p.Lys1169=) c.421A= c.3686A= (p.Lys1229=) c.3353A= (p.Lys1118=) | |
| 7 | g.117627649A>C | CA368997102 | CFTR | c.3517+79A>C (n.3517+79A>C) c.*3310A>C (n.*3310A>C) c.3413A>C (p.Lys1138Thr) c.3596A>C (p.Lys1199Thr) c.*249A>C (n.*249A>C) c.*257A>C (n.*257A>C) c.*1971A>C (n.*1971A>C) c.3590A>C (p.Lys1197Thr) c.*3420A>C (n.*3420A>C) c.3170A>C (p.Lys1057Thr) c.344A>C (p.Lys115Thr) c.1383A>C (n.1383A>C) c.178A>C c.1167+79A>C c.2378A>C (p.Lys793Thr) c.3506A>C (p.Lys1169Thr) c.421A>C c.3686A>C (p.Lys1229Thr) c.3353A>C (p.Lys1118Thr) | |
| 7 | g.117627649A>G | CA4451506 | CFTR | c.3517+79A>G (n.3517+79A>G) c.*3310A>G (n.*3310A>G) c.3413A>G (p.Lys1138Arg) c.3596A>G (p.Lys1199Arg) c.*249A>G (n.*249A>G) c.*257A>G (n.*257A>G) c.*1971A>G (n.*1971A>G) c.3590A>G (p.Lys1197Arg) c.*3420A>G (n.*3420A>G) c.3170A>G (p.Lys1057Arg) c.344A>G (p.Lys115Arg) c.1383A>G (n.1383A>G) c.178A>G c.1167+79A>G c.2378A>G (p.Lys793Arg) c.3506A>G (p.Lys1169Arg) c.421A>G c.3686A>G (p.Lys1229Arg) c.3353A>G (p.Lys1118Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627649A>T | CA368997100 | CFTR | c.3517+79A>T (n.3517+79A>T) c.*3310A>T (n.*3310A>T) c.3413A>T (p.Lys1138Met) c.3596A>T (p.Lys1199Met) c.*249A>T (n.*249A>T) c.*257A>T (n.*257A>T) c.*1971A>T (n.*1971A>T) c.3590A>T (p.Lys1197Met) c.*3420A>T (n.*3420A>T) c.3170A>T (p.Lys1057Met) c.344A>T (p.Lys115Met) c.1383A>T (n.1383A>T) c.178A>T c.1167+79A>T c.2378A>T (p.Lys793Met) c.3506A>T (p.Lys1169Met) c.421A>T c.3686A>T (p.Lys1229Met) c.3353A>T (p.Lys1118Met) | |
| 7 | g.117627650G>A | CA457231415 | CFTR | c.3517+80G>A (n.3517+80G>A) c.*3311G>A (n.*3311G>A) c.3414G>A (p.Lys1138=) c.3597G>A (p.Lys1199=) c.*250G>A (n.*250G>A) c.*258G>A (n.*258G>A) c.*1972G>A (n.*1972G>A) c.3591G>A (p.Lys1197=) c.*3421G>A (n.*3421G>A) c.3171G>A (p.Lys1057=) c.345G>A (p.Lys115=) c.1384G>A (n.1384G>A) c.179G>A c.1167+80G>A c.2379G>A (p.Lys793=) c.3507G>A (p.Lys1169=) c.422G>A c.3687G>A (p.Lys1229=) c.3354G>A (p.Lys1118=) | |
| 7 | g.117627650G>C | CA368997104 | CFTR | c.3517+80G>C (n.3517+80G>C) c.*3311G>C (n.*3311G>C) c.3414G>C (p.Lys1138Asn) c.3597G>C (p.Lys1199Asn) c.*250G>C (n.*250G>C) c.*258G>C (n.*258G>C) c.*1972G>C (n.*1972G>C) c.3591G>C (p.Lys1197Asn) c.*3421G>C (n.*3421G>C) c.3171G>C (p.Lys1057Asn) c.345G>C (p.Lys115Asn) c.1384G>C (n.1384G>C) c.179G>C c.1167+80G>C c.2379G>C (p.Lys793Asn) c.3507G>C (p.Lys1169Asn) c.422G>C c.3687G>C (p.Lys1229Asn) c.3354G>C (p.Lys1118Asn) | |
| 7 | g.117627650G>T | CA368997106 | CFTR | c.3517+80G>T (n.3517+80G>T) c.*3311G>T (n.*3311G>T) c.3414G>T (p.Lys1138Asn) c.3597G>T (p.Lys1199Asn) c.*250G>T (n.*250G>T) c.*258G>T (n.*258G>T) c.*1972G>T (n.*1972G>T) c.3591G>T (p.Lys1197Asn) c.*3421G>T (n.*3421G>T) c.3171G>T (p.Lys1057Asn) c.345G>T (p.Lys115Asn) c.1384G>T (n.1384G>T) c.179G>T c.1167+80G>T c.2379G>T (p.Lys793Asn) c.3507G>T (p.Lys1169Asn) c.422G>T c.3687G>T (p.Lys1229Asn) c.3354G>T (p.Lys1118Asn) | gnomAD v4 |
| 7 | g.117627650_117627652delinsGAA | CA1737398671 | CFTR | c.3517+80_3517+82delinsGAA (n.3517+80_3517+82delinsGAA) c.*3311_*3313delinsGAA (n.*3311_*3313delinsGAA) c.3414_3416delinsGAA (p.Lys1138=) c.3597_3599delinsGAA (p.Lys1199=) c.*250_*252delinsGAA (n.*250_*252delinsGAA) c.*258_*260delinsGAA (n.*258_*260delinsGAA) c.*1972_*1974delinsGAA (n.*1972_*1974delinsGAA) c.3591_3593delinsGAA (p.Lys1197=) c.*3421_*3423delinsGAA (n.*3421_*3423delinsGAA) c.3171_3173delinsGAA (p.Lys1057=) c.345_347delinsGAA (p.Lys115=) c.1384_1386delinsGAA (n.1384_1386delinsGAA) c.179_181delinsGAA c.1167+80_1167+82delinsGAA c.2379_2381delinsGAA (p.Lys793=) c.3507_3509delinsGAA (p.Lys1169=) c.422_424delinsGAA c.3687_3689delinsGAA (p.Lys1229=) c.3354_3356delinsGAA (p.Lys1118=) | |
| 7 | g.117627651A= | CA1737398672 | CFTR | c.3517+81A= (n.3517+81A=) c.*3312A= (n.*3312A=) c.3415A= (p.Lys1139=) c.3598A= (p.Lys1200=) c.*251A= (n.*251A=) c.*259A= (n.*259A=) c.*1973A= (n.*1973A=) c.3592A= (p.Lys1198=) c.*3422A= (n.*3422A=) c.3172A= (p.Lys1058=) c.346A= (p.Lys116=) c.1385A= (n.1385A=) c.180A= c.1167+81A= c.2380A= (p.Lys794=) c.3508A= (p.Lys1170=) c.423A= c.3688A= (p.Lys1230=) c.3355A= (p.Lys1119=) | |
| 7 | g.117627651A>C | CA4451507 | CFTR | c.3517+81A>C (n.3517+81A>C) c.*3312A>C (n.*3312A>C) c.3415A>C (p.Lys1139Gln) c.3598A>C (p.Lys1200Gln) c.*251A>C (n.*251A>C) c.*259A>C (n.*259A>C) c.*1973A>C (n.*1973A>C) c.3592A>C (p.Lys1198Gln) c.*3422A>C (n.*3422A>C) c.3172A>C (p.Lys1058Gln) c.346A>C (p.Lys116Gln) c.1385A>C (n.1385A>C) c.180A>C c.1167+81A>C c.2380A>C (p.Lys794Gln) c.3508A>C (p.Lys1170Gln) c.423A>C c.3688A>C (p.Lys1230Gln) c.3355A>C (p.Lys1119Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627651A>G | CA368997109 | CFTR | c.3517+81A>G (n.3517+81A>G) c.*3312A>G (n.*3312A>G) c.3415A>G (p.Lys1139Glu) c.3598A>G (p.Lys1200Glu) c.*251A>G (n.*251A>G) c.*259A>G (n.*259A>G) c.*1973A>G (n.*1973A>G) c.3592A>G (p.Lys1198Glu) c.*3422A>G (n.*3422A>G) c.3172A>G (p.Lys1058Glu) c.346A>G (p.Lys116Glu) c.1385A>G (n.1385A>G) c.180A>G c.1167+81A>G c.2380A>G (p.Lys794Glu) c.3508A>G (p.Lys1170Glu) c.423A>G c.3688A>G (p.Lys1230Glu) c.3355A>G (p.Lys1119Glu) | |
| 7 | g.117627651A>T | CA368997111 | CFTR | c.3517+81A>T (n.3517+81A>T) c.*3312A>T (n.*3312A>T) c.3415A>T (p.Lys1139Ter) c.3598A>T (p.Lys1200Ter) c.*251A>T (n.*251A>T) c.*259A>T (n.*259A>T) c.*1973A>T (n.*1973A>T) c.3592A>T (p.Lys1198Ter) c.*3422A>T (n.*3422A>T) c.3172A>T (p.Lys1058Ter) c.346A>T (p.Lys116Ter) c.1385A>T (n.1385A>T) c.180A>T c.1167+81A>T c.2380A>T (p.Lys794Ter) c.3508A>T (p.Lys1170Ter) c.423A>T c.3688A>T (p.Lys1230Ter) c.3355A>T (p.Lys1119Ter) | |
| 7 | g.117627651delinsTCT | CA2695208377 | CFTR | c.3517+81delinsTCT (n.3517+81delinsTCT) c.*3312delinsTCT (n.*3312delinsTCT) c.3415delinsTCT (p.Lys1139SerfsTer12) c.3598delinsTCT (p.Lys1200SerfsTer12) c.*251delinsTCT (n.*251delinsTCT) c.*259delinsTCT (n.*259delinsTCT) c.*1973delinsTCT (n.*1973delinsTCT) c.3592delinsTCT (p.Lys1198SerfsTer12) c.*3422delinsTCT (n.*3422delinsTCT) c.3172delinsTCT (p.Lys1058SerfsTer12) c.346delinsTCT (p.Lys116SerfsTer12) c.1385delinsTCT (n.1385delinsTCT) c.180delinsTCT c.1167+81delinsTCT c.2380delinsTCT (p.Lys794SerfsTer12) c.3508delinsTCT (p.Lys1170SerfsTer12) c.423delinsTCT c.3688delinsTCT (p.Lys1230SerfsTer12) c.3355delinsTCT (p.Lys1119SerfsTer12) | |
| 7 | g.117627651_117627652delinsG | CA915945444 | CFTR | c.3517+81_3517+82delinsG (n.3517+81_3517+82delinsG) c.*3312_*3313delinsG (n.*3312_*3313delinsG) c.3415_3416delinsG (p.Lys1139GlufsTer11) c.3598_3599delinsG (p.Lys1200GlufsTer11) c.*251_*252delinsG (n.*251_*252delinsG) c.*259_*260delinsG (n.*259_*260delinsG) c.*1973_*1974delinsG (n.*1973_*1974delinsG) c.3592_3593delinsG (p.Lys1198GlufsTer11) c.*3422_*3423delinsG (n.*3422_*3423delinsG) c.3172_3173delinsG (p.Lys1058GlufsTer11) c.346_347delinsG (p.Lys116GlufsTer11) c.1385_1386delinsG (n.1385_1386delinsG) c.180_181delinsG c.1167+81_1167+82delinsG c.2380_2381delinsG (p.Lys794GlufsTer11) c.3508_3509delinsG (p.Lys1170GlufsTer11) c.423_424delinsG c.3688_3689delinsG (p.Lys1230GlufsTer11) c.3355_3356delinsG (p.Lys1119GlufsTer11) | ClinVar dbSNP |
| 7 | g.117627651_117627653delinsAAA | CA1737398673 | CFTR | c.3517+81_3517+83delinsAAA (n.3517+81_3517+83delinsAAA) c.*3312_*3314delinsAAA (n.*3312_*3314delinsAAA) c.3415_3417delinsAAA (p.Lys1139=) c.3598_3600delinsAAA (p.Lys1200=) c.*251_*253delinsAAA (n.*251_*253delinsAAA) c.*259_*261delinsAAA (n.*259_*261delinsAAA) c.*1973_*1975delinsAAA (n.*1973_*1975delinsAAA) c.3592_3594delinsAAA (p.Lys1198=) c.*3422_*3424delinsAAA (n.*3422_*3424delinsAAA) c.3172_3174delinsAAA (p.Lys1058=) c.346_348delinsAAA (p.Lys116=) c.1385_1387delinsAAA (n.1385_1387delinsAAA) c.180_182delinsAAA c.1167+81_1167+83delinsAAA c.2380_2382delinsAAA (p.Lys794=) c.3508_3510delinsAAA (p.Lys1170=) c.423_425delinsAAA c.3688_3690delinsAAA (p.Lys1230=) c.3355_3357delinsAAA (p.Lys1119=) | |
| 7 | g.117627653del | CA2573052807 | CFTR | c.3517+83del (n.3517+83del) c.*3314del (n.*3314del) c.3417del (p.Asp1140MetfsTer10) c.3600del (p.Asp1201MetfsTer10) c.*253del (n.*253del) c.*261del (n.*261del) c.*1975del (n.*1975del) c.3594del (p.Asp1199MetfsTer10) c.*3424del (n.*3424del) c.3174del (p.Asp1059MetfsTer10) c.348del (p.Asp117MetfsTer10) c.1387del (n.1387del) c.182del c.1167+83del c.2382del (p.Asp795MetfsTer10) c.3510del (p.Asp1171MetfsTer10) c.425del c.3690del (p.Asp1231MetfsTer10) c.3357del (p.Asp1120MetfsTer10) | ClinVar dbSNP |
| 7 | g.117627652A>C | CA368997113 | CFTR | c.3517+82A>C (n.3517+82A>C) c.*3313A>C (n.*3313A>C) c.3416A>C (p.Lys1139Thr) c.3599A>C (p.Lys1200Thr) c.*252A>C (n.*252A>C) c.*260A>C (n.*260A>C) c.*1974A>C (n.*1974A>C) c.3593A>C (p.Lys1198Thr) c.*3423A>C (n.*3423A>C) c.3173A>C (p.Lys1058Thr) c.347A>C (p.Lys116Thr) c.1386A>C (n.1386A>C) c.181A>C c.1167+82A>C c.2381A>C (p.Lys794Thr) c.3509A>C (p.Lys1170Thr) c.424A>C c.3689A>C (p.Lys1230Thr) c.3356A>C (p.Lys1119Thr) | |
| 7 | g.117627652A>G | CA368997116 | CFTR | c.3517+82A>G (n.3517+82A>G) c.*3313A>G (n.*3313A>G) c.3416A>G (p.Lys1139Arg) c.3599A>G (p.Lys1200Arg) c.*252A>G (n.*252A>G) c.*260A>G (n.*260A>G) c.*1974A>G (n.*1974A>G) c.3593A>G (p.Lys1198Arg) c.*3423A>G (n.*3423A>G) c.3173A>G (p.Lys1058Arg) c.347A>G (p.Lys116Arg) c.1386A>G (n.1386A>G) c.181A>G c.1167+82A>G c.2381A>G (p.Lys794Arg) c.3509A>G (p.Lys1170Arg) c.424A>G c.3689A>G (p.Lys1230Arg) c.3356A>G (p.Lys1119Arg) | |
| 7 | g.117627652A>T | CA368997115 | CFTR | c.3517+82A>T (n.3517+82A>T) c.*3313A>T (n.*3313A>T) c.3416A>T (p.Lys1139Ile) c.3599A>T (p.Lys1200Ile) c.*252A>T (n.*252A>T) c.*260A>T (n.*260A>T) c.*1974A>T (n.*1974A>T) c.3593A>T (p.Lys1198Ile) c.*3423A>T (n.*3423A>T) c.3173A>T (p.Lys1058Ile) c.347A>T (p.Lys116Ile) c.1386A>T (n.1386A>T) c.181A>T c.1167+82A>T c.2381A>T (p.Lys794Ile) c.3509A>T (p.Lys1170Ile) c.424A>T c.3689A>T (p.Lys1230Ile) c.3356A>T (p.Lys1119Ile) | |
| 7 | g.117627652_117627653delinsG | CA915945445 | CFTR | c.3517+82_3517+83delinsG (n.3517+82_3517+83delinsG) c.*3313_*3314delinsG (n.*3313_*3314delinsG) c.3416_3417delinsG (p.Lys1139ArgfsTer11) c.3599_3600delinsG (p.Lys1200ArgfsTer11) c.*252_*253delinsG (n.*252_*253delinsG) c.*260_*261delinsG (n.*260_*261delinsG) c.*1974_*1975delinsG (n.*1974_*1975delinsG) c.3593_3594delinsG (p.Lys1198ArgfsTer11) c.*3423_*3424delinsG (n.*3423_*3424delinsG) c.3173_3174delinsG (p.Lys1058ArgfsTer11) c.347_348delinsG (p.Lys116ArgfsTer11) c.1386_1387delinsG (n.1386_1387delinsG) c.181_182delinsG c.1167+82_1167+83delinsG c.2381_2382delinsG (p.Lys794ArgfsTer11) c.3509_3510delinsG (p.Lys1170ArgfsTer11) c.424_425delinsG c.3689_3690delinsG (p.Lys1230ArgfsTer11) c.3356_3357delinsG (p.Lys1119ArgfsTer11) | ClinVar dbSNP |
| 7 | g.117627653A= | CA1737398674 | CFTR | c.3517+83A= (n.3517+83A=) c.*3314A= (n.*3314A=) c.3417A= (p.Lys1139=) c.3600A= (p.Lys1200=) c.*253A= (n.*253A=) c.*261A= (n.*261A=) c.*1975A= (n.*1975A=) c.3594A= (p.Lys1198=) c.*3424A= (n.*3424A=) c.3174A= (p.Lys1058=) c.348A= (p.Lys116=) c.1387A= (n.1387A=) c.182A= c.1167+83A= c.2382A= (p.Lys794=) c.3510A= (p.Lys1170=) c.425A= c.3690A= (p.Lys1230=) c.3357A= (p.Lys1119=) | |
| 7 | g.117627653A>C | CA368997118 | CFTR | c.3517+83A>C (n.3517+83A>C) c.*3314A>C (n.*3314A>C) c.3417A>C (p.Lys1139Asn) c.3600A>C (p.Lys1200Asn) c.*253A>C (n.*253A>C) c.*261A>C (n.*261A>C) c.*1975A>C (n.*1975A>C) c.3594A>C (p.Lys1198Asn) c.*3424A>C (n.*3424A>C) c.3174A>C (p.Lys1058Asn) c.348A>C (p.Lys116Asn) c.1387A>C (n.1387A>C) c.182A>C c.1167+83A>C c.2382A>C (p.Lys794Asn) c.3510A>C (p.Lys1170Asn) c.425A>C c.3690A>C (p.Lys1230Asn) c.3357A>C (p.Lys1119Asn) | |
| 7 | g.117627653A>G | CA327237 | CFTR | c.3517+83A>G (n.3517+83A>G) c.*3314A>G (n.*3314A>G) c.3417A>G (p.Lys1139=) c.3600A>G (p.Lys1200=) c.*253A>G (n.*253A>G) c.*261A>G (n.*261A>G) c.*1975A>G (n.*1975A>G) c.3594A>G (p.Lys1198=) c.*3424A>G (n.*3424A>G) c.3174A>G (p.Lys1058=) c.348A>G (p.Lys116=) c.1387A>G (n.1387A>G) c.182A>G c.1167+83A>G c.2382A>G (p.Lys794=) c.3510A>G (p.Lys1170=) c.425A>G c.3690A>G (p.Lys1230=) c.3357A>G (p.Lys1119=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627653A>T | CA368997120 | CFTR | c.3517+83A>T (n.3517+83A>T) c.*3314A>T (n.*3314A>T) c.3417A>T (p.Lys1139Asn) c.3600A>T (p.Lys1200Asn) c.*253A>T (n.*253A>T) c.*261A>T (n.*261A>T) c.*1975A>T (n.*1975A>T) c.3594A>T (p.Lys1198Asn) c.*3424A>T (n.*3424A>T) c.3174A>T (p.Lys1058Asn) c.348A>T (p.Lys116Asn) c.1387A>T (n.1387A>T) c.182A>T c.1167+83A>T c.2382A>T (p.Lys794Asn) c.3510A>T (p.Lys1170Asn) c.425A>T c.3690A>T (p.Lys1230Asn) c.3357A>T (p.Lys1119Asn) | ClinVar |
| 7 | g.117627654G>A | CA368997122 | CFTR | c.3517+84G>A (n.3517+84G>A) c.*3315G>A (n.*3315G>A) c.3418G>A (p.Asp1140Asn) c.3601G>A (p.Asp1201Asn) c.*254G>A (n.*254G>A) c.*262G>A (n.*262G>A) c.*1976G>A (n.*1976G>A) c.3595G>A (p.Asp1199Asn) c.*3425G>A (n.*3425G>A) c.3175G>A (p.Asp1059Asn) c.349G>A (p.Asp117Asn) c.1388G>A (n.1388G>A) c.183G>A c.1167+84G>A c.2383G>A (p.Asp795Asn) c.3511G>A (p.Asp1171Asn) c.426G>A c.3691G>A (p.Asp1231Asn) c.3358G>A (p.Asp1120Asn) | COSMIC |
| 7 | g.117627654G>C | CA368997124 | CFTR | c.3517+84G>C (n.3517+84G>C) c.*3315G>C (n.*3315G>C) c.3418G>C (p.Asp1140His) c.3601G>C (p.Asp1201His) c.*254G>C (n.*254G>C) c.*262G>C (n.*262G>C) c.*1976G>C (n.*1976G>C) c.3595G>C (p.Asp1199His) c.*3425G>C (n.*3425G>C) c.3175G>C (p.Asp1059His) c.349G>C (p.Asp117His) c.1388G>C (n.1388G>C) c.183G>C c.1167+84G>C c.2383G>C (p.Asp795His) c.3511G>C (p.Asp1171His) c.426G>C c.3691G>C (p.Asp1231His) c.3358G>C (p.Asp1120His) | gnomAD v4 |
| 7 | g.117627654G= | CA1737398675 | CFTR | c.3517+84G= (n.3517+84G=) c.*3315G= (n.*3315G=) c.3418G= (p.Asp1140=) c.3601G= (p.Asp1201=) c.*254G= (n.*254G=) c.*262G= (n.*262G=) c.*1976G= (n.*1976G=) c.3595G= (p.Asp1199=) c.*3425G= (n.*3425G=) c.3175G= (p.Asp1059=) c.349G= (p.Asp117=) c.1388G= (n.1388G=) c.183G= c.1167+84G= c.2383G= (p.Asp795=) c.3511G= (p.Asp1171=) c.426G= c.3691G= (p.Asp1231=) c.3358G= (p.Asp1120=) | |
| 7 | g.117627654G>T | CA368997126 | CFTR | c.3517+84G>T (n.3517+84G>T) c.*3315G>T (n.*3315G>T) c.3418G>T (p.Asp1140Tyr) c.3601G>T (p.Asp1201Tyr) c.*254G>T (n.*254G>T) c.*262G>T (n.*262G>T) c.*1976G>T (n.*1976G>T) c.3595G>T (p.Asp1199Tyr) c.*3425G>T (n.*3425G>T) c.3175G>T (p.Asp1059Tyr) c.349G>T (p.Asp117Tyr) c.1388G>T (n.1388G>T) c.183G>T c.1167+84G>T c.2383G>T (p.Asp795Tyr) c.3511G>T (p.Asp1171Tyr) c.426G>T c.3691G>T (p.Asp1231Tyr) c.3358G>T (p.Asp1120Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117627655del | CA2580076344 | CFTR | c.3517+85del (n.3517+85del) c.*3316del (n.*3316del) c.3419del (p.Asp1140ValfsTer10) c.3602del (p.Asp1201ValfsTer10) c.*255del (n.*255del) c.*263del (n.*263del) c.*1977del (n.*1977del) c.3596del (p.Asp1199ValfsTer10) c.*3426del (n.*3426del) c.3176del (p.Asp1059ValfsTer10) c.350del (p.Asp117ValfsTer10) c.1389del (n.1389del) c.184del c.1167+85del c.2384del (p.Asp795ValfsTer10) c.3512del (p.Asp1171ValfsTer10) c.427del c.3692del (p.Asp1231ValfsTer10) c.3359del (p.Asp1120ValfsTer10) | ClinVar |