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.117627676dup | CA577223239 | CFTR | c.3517+106dup (n.3517+106dup) c.*3337dup (n.*3337dup) c.3440dup (p.Gln1148ProfsTer?) c.3623dup (p.Gln1209ProfsTer?) c.*276dup (n.*276dup) c.*284dup (n.*284dup) c.*1998dup (n.*1998dup) c.3617dup (p.Gln1207ProfsTer?) c.*3447dup (n.*3447dup) c.3197dup (p.Gln1067ProfsTer?) c.371dup (p.Gln125ProfsTer?) c.1410dup (n.1410dup) c.205dup c.1167+106dup c.2405dup (p.Gln803ProfsTer?) c.3533dup (p.Gln1179ProfsTer?) c.448dup c.3713dup (p.Gln1239ProfsTer?) c.3380dup (p.Gln1128ProfsTer?) | dbSNP gnomAD v2 |
7 | g.117627676del | CA327244 | CFTR | c.3517+106del (n.3517+106del) c.*3337del (n.*3337del) c.3440del (p.Gly1147AlafsTer3) c.3623del (p.Gly1208AlafsTer3) c.*276del (n.*276del) c.*284del (n.*284del) c.*1998del (n.*1998del) c.3617del (p.Gly1206AlafsTer3) c.*3447del (n.*3447del) c.3197del (p.Gly1066AlafsTer3) c.371del (p.Gly124AlafsTer3) c.1410del (n.1410del) c.205del c.1167+106del c.2405del (p.Gly802AlafsTer3) c.3533del (p.Gly1178AlafsTer3) c.448del c.3713del (p.Gly1238AlafsTer3) c.3380del (p.Gly1127AlafsTer3) | ClinVar dbSNP |
7 | g.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) | 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) | 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 |