Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117624642_117629920delCA915945441CFTRc.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
7g.117627333_117631592delCA915945443CFTRc.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
7g.117627470_117632802dupCA2580614241CFTRc.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
7g.117627522_117627770delCA327202CFTRc.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
7g.117627676dupCA577223239CFTRc.3517+106dup (n.3517+106dup)
c.*3337dup (n.*3337dup)
c.3440dup (p.Gln1148ProfsTer?)
c.3623dup (p.Gln1209ProfsTer?)
c.*276dup (n.*276dup)
c.*284dup (n.*284dup)
c.*1998dup (n.*1998dup)
c.3617dup (p.Gln1207ProfsTer?)
c.*3447dup (n.*3447dup)
c.3197dup (p.Gln1067ProfsTer?)
c.371dup (p.Gln125ProfsTer?)
c.1410dup (n.1410dup)
c.205dup
c.1167+106dup
c.2405dup (p.Gln803ProfsTer?)
c.3533dup (p.Gln1179ProfsTer?)
c.448dup
c.3713dup (p.Gln1239ProfsTer?)
c.3380dup (p.Gln1128ProfsTer?)
dbSNP gnomAD v2
7g.117627676delCA327244CFTRc.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
7g.117627675G>ACA368997220CFTRc.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)
7g.117627675G>CCA368997221CFTRc.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)
7g.117627675G>TCA368997223CFTRc.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)
7g.117627675_117627676delinsTCA2580076353CFTRc.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
7g.117627676G>ACA4451508CFTRc.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
7g.117627676G>CCA368997227CFTRc.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
7g.117627676G=CA1737398689CFTRc.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=)
7g.117627676G>TCA368997228CFTRc.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)
7g.117627677C>ACA457231432CFTRc.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=)
7g.117627677C>GCA457231433CFTRc.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=)
7g.117627677C>TCA457231434CFTRc.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=)
7g.117627678C>ACA368997231CFTRc.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)
dbSNP
7g.117627678C=CA1737398690CFTRc.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=)
7g.117627678C>GCA368997233CFTRc.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
7g.117627678C>TCA368997234CFTRc.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)
7g.117627679A>CCA368997236CFTRc.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)
7g.117627679A>GCA368997238CFTRc.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)
7g.117627679A>TCA368997240CFTRc.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)
7g.117627680A=CA1737398691CFTRc.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=)
7g.117627680A>CCA368997243CFTRc.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)
7g.117627680A>GCA4451509CFTRc.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
7g.117627680A>TCA368997245CFTRc.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)
7g.117627681A=CA1737398692CFTRc.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=)
7g.117627681A>CCA4451510CFTRc.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
7g.117627681A>GCA164976676CFTRc.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
7g.117627681A>TCA368997250CFTRc.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)
gnomAD v4
7g.117627682T>ACA327245CFTRc.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
7g.117627682T>CCA368997253CFTRc.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)
7g.117627682T>GCA368997255CFTRc.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)
7g.117627682T=CA1737398693CFTRc.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=)
7g.117627683G>ACA368997257CFTRc.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)
7g.117627683G>CCA368997259CFTRc.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)
7g.117627683G>TCA368997261CFTRc.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
7g.117627684A>CCA368997263CFTRc.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)
7g.117627684A>GCA368997265CFTRc.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)
7g.117627684A>TCA368997267CFTRc.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)
7g.117627685C>ACA368997271CFTRc.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)
7g.117627685C>GCA368997268CFTRc.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)
7g.117627685C>TCA368997269CFTRc.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)
7g.117627686T>ACA457231437CFTRc.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=)
7g.117627686T>CCA457231435CFTRc.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=)
7g.117627686T>GCA457231436CFTRc.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=)
7g.117627687G>ACA327247CFTRc.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
7g.117627687G>CCA368997274CFTRc.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

Number of alleles fetched