| 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 | |
| 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.117627539_117627540del | CA327214 | CFTR | c.3486_3487del (p.Val1163LeufsTer2) c.*3200_*3201del (n.*3200_*3201del) c.3303_3304del (p.Val1102LeufsTer2) c.*139_*140del (n.*139_*140del) c.*147_*148del (n.*147_*148del) c.*1861_*1862del (n.*1861_*1862del) c.3480_3481del (p.Val1161LeufsTer2) c.*3310_*3311del (n.*3310_*3311del) c.3060_3061del (p.Val1021LeufsTer2) c.234_235del (p.Val79LeufsTer2) c.1273_1274del (n.1273_1274del) c.68_69del c.1136_1137del c.2268_2269del (p.Val757LeufsTer2) c.3396_3397del (p.Val1133LeufsTer2) c.311_312del c.3576_3577del (p.Val1193LeufsTer2) c.3243_3244del (p.Val1082LeufsTer2) | dbSNP |
| 7 | g.117627540G>A | CA368996015 | CFTR | c.3487G>A (p.Val1163Ile) c.*3201G>A (n.*3201G>A) c.3304G>A (p.Val1102Ile) c.*140G>A (n.*140G>A) c.*148G>A (n.*148G>A) c.*1862G>A (n.*1862G>A) c.3481G>A (p.Val1161Ile) c.*3311G>A (n.*3311G>A) c.3061G>A (p.Val1021Ile) c.235G>A (p.Val79Ile) c.1274G>A (n.1274G>A) c.69G>A c.1137G>A c.2269G>A (p.Val757Ile) c.3397G>A (p.Val1133Ile) c.312G>A c.3577G>A (p.Val1193Ile) c.3244G>A (p.Val1082Ile) | |
| 7 | g.117627540G>C | CA368996018 | CFTR | c.3487G>C (p.Val1163Leu) c.*3201G>C (n.*3201G>C) c.3304G>C (p.Val1102Leu) c.*140G>C (n.*140G>C) c.*148G>C (n.*148G>C) c.*1862G>C (n.*1862G>C) c.3481G>C (p.Val1161Leu) c.*3311G>C (n.*3311G>C) c.3061G>C (p.Val1021Leu) c.235G>C (p.Val79Leu) c.1274G>C (n.1274G>C) c.69G>C c.1137G>C c.2269G>C (p.Val757Leu) c.3397G>C (p.Val1133Leu) c.312G>C c.3577G>C (p.Val1193Leu) c.3244G>C (p.Val1082Leu) | |
| 7 | g.117627540G>T | CA368996020 | CFTR | c.3487G>T (p.Val1163Phe) c.*3201G>T (n.*3201G>T) c.3304G>T (p.Val1102Phe) c.*140G>T (n.*140G>T) c.*148G>T (n.*148G>T) c.*1862G>T (n.*1862G>T) c.3481G>T (p.Val1161Phe) c.*3311G>T (n.*3311G>T) c.3061G>T (p.Val1021Phe) c.235G>T (p.Val79Phe) c.1274G>T (n.1274G>T) c.69G>T c.1137G>T c.2269G>T (p.Val757Phe) c.3397G>T (p.Val1133Phe) c.312G>T c.3577G>T (p.Val1193Phe) c.3244G>T (p.Val1082Phe) | |
| 7 | g.117627541T>A | CA368996023 | CFTR | c.3488T>A (p.Val1163Asp) c.*3202T>A (n.*3202T>A) c.3305T>A (p.Val1102Asp) c.*141T>A (n.*141T>A) c.*149T>A (n.*149T>A) c.*1863T>A (n.*1863T>A) c.3482T>A (p.Val1161Asp) c.*3312T>A (n.*3312T>A) c.3062T>A (p.Val1021Asp) c.236T>A (p.Val79Asp) c.1275T>A (n.1275T>A) c.70T>A c.1138T>A c.2270T>A (p.Val757Asp) c.3398T>A (p.Val1133Asp) c.313T>A c.3578T>A (p.Val1193Asp) c.3245T>A (p.Val1082Asp) | |
| 7 | g.117627541T>C | CA368996026 | CFTR | c.3488T>C (p.Val1163Ala) c.*3202T>C (n.*3202T>C) c.3305T>C (p.Val1102Ala) c.*141T>C (n.*141T>C) c.*149T>C (n.*149T>C) c.*1863T>C (n.*1863T>C) c.3482T>C (p.Val1161Ala) c.*3312T>C (n.*3312T>C) c.3062T>C (p.Val1021Ala) c.236T>C (p.Val79Ala) c.1275T>C (n.1275T>C) c.70T>C c.1138T>C c.2270T>C (p.Val757Ala) c.3398T>C (p.Val1133Ala) c.313T>C c.3578T>C (p.Val1193Ala) c.3245T>C (p.Val1082Ala) | |
| 7 | g.117627541T>G | CA164976470 | CFTR | c.3488T>G (p.Val1163Gly) c.*3202T>G (n.*3202T>G) c.3305T>G (p.Val1102Gly) c.*141T>G (n.*141T>G) c.*149T>G (n.*149T>G) c.*1863T>G (n.*1863T>G) c.3482T>G (p.Val1161Gly) c.*3312T>G (n.*3312T>G) c.3062T>G (p.Val1021Gly) c.236T>G (p.Val79Gly) c.1275T>G (n.1275T>G) c.70T>G c.1138T>G c.2270T>G (p.Val757Gly) c.3398T>G (p.Val1133Gly) c.313T>G c.3578T>G (p.Val1193Gly) c.3245T>G (p.Val1082Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627541T= | CA1737398611 | CFTR | c.3488T= (p.Val1163=) c.*3202T= (n.*3202T=) c.3305T= (p.Val1102=) c.*141T= (n.*141T=) c.*149T= (n.*149T=) c.*1863T= (n.*1863T=) c.3482T= (p.Val1161=) c.*3312T= (n.*3312T=) c.3062T= (p.Val1021=) c.236T= (p.Val79=) c.1275T= (n.1275T=) c.70T= c.1138T= c.2270T= (p.Val757=) c.3398T= (p.Val1133=) c.313T= c.3578T= (p.Val1193=) c.3245T= (p.Val1082=) | |
| 7 | g.117627542C>A | CA457231164 | CFTR | c.3489C>A (p.Val1163=) c.*3203C>A (n.*3203C>A) c.3306C>A (p.Val1102=) c.*142C>A (n.*142C>A) c.*150C>A (n.*150C>A) c.*1864C>A (n.*1864C>A) c.3483C>A (p.Val1161=) c.*3313C>A (n.*3313C>A) c.3063C>A (p.Val1021=) c.237C>A (p.Val79=) c.1276C>A (n.1276C>A) c.71C>A c.1139C>A c.2271C>A (p.Val757=) c.3399C>A (p.Val1133=) c.314C>A c.3579C>A (p.Val1193=) c.3246C>A (p.Val1082=) | |
| 7 | g.117627542C= | CA1737398612 | CFTR | c.3489C= (p.Val1163=) c.*3203C= (n.*3203C=) c.3306C= (p.Val1102=) c.*142C= (n.*142C=) c.*150C= (n.*150C=) c.*1864C= (n.*1864C=) c.3483C= (p.Val1161=) c.*3313C= (n.*3313C=) c.3063C= (p.Val1021=) c.237C= (p.Val79=) c.1276C= (n.1276C=) c.71C= c.1139C= c.2271C= (p.Val757=) c.3399C= (p.Val1133=) c.314C= c.3579C= (p.Val1193=) c.3246C= (p.Val1082=) | |
| 7 | g.117627542C>G | CA457231166 | CFTR | c.3489C>G (p.Val1163=) c.*3203C>G (n.*3203C>G) c.3306C>G (p.Val1102=) c.*142C>G (n.*142C>G) c.*150C>G (n.*150C>G) c.*1864C>G (n.*1864C>G) c.3483C>G (p.Val1161=) c.*3313C>G (n.*3313C>G) c.3063C>G (p.Val1021=) c.237C>G (p.Val79=) c.1276C>G (n.1276C>G) c.71C>G c.1139C>G c.2271C>G (p.Val757=) c.3399C>G (p.Val1133=) c.314C>G c.3579C>G (p.Val1193=) c.3246C>G (p.Val1082=) | |
| 7 | g.117627542C>T | CA457231165 | CFTR | c.3489C>T (p.Val1163=) c.*3203C>T (n.*3203C>T) c.3306C>T (p.Val1102=) c.*142C>T (n.*142C>T) c.*150C>T (n.*150C>T) c.*1864C>T (n.*1864C>T) c.3483C>T (p.Val1161=) c.*3313C>T (n.*3313C>T) c.3063C>T (p.Val1021=) c.237C>T (p.Val79=) c.1276C>T (n.1276C>T) c.71C>T c.1139C>T c.2271C>T (p.Val757=) c.3399C>T (p.Val1133=) c.314C>T c.3579C>T (p.Val1193=) c.3246C>T (p.Val1082=) | |
| 7 | g.117627543T>A | CA368996028 | CFTR | c.3490T>A (p.Phe1164Ile) c.*3204T>A (n.*3204T>A) c.3307T>A (p.Phe1103Ile) c.*143T>A (n.*143T>A) c.*151T>A (n.*151T>A) c.*1865T>A (n.*1865T>A) c.3484T>A (p.Phe1162Ile) c.*3314T>A (n.*3314T>A) c.3064T>A (p.Phe1022Ile) c.238T>A (p.Phe80Ile) c.1277T>A (n.1277T>A) c.72T>A c.1140T>A c.2272T>A (p.Phe758Ile) c.3400T>A (p.Phe1134Ile) c.315T>A c.3580T>A (p.Phe1194Ile) c.3247T>A (p.Phe1083Ile) | |
| 7 | g.117627543T>C | CA368996032 | CFTR | c.3490T>C (p.Phe1164Leu) c.*3204T>C (n.*3204T>C) c.3307T>C (p.Phe1103Leu) c.*143T>C (n.*143T>C) c.*151T>C (n.*151T>C) c.*1865T>C (n.*1865T>C) c.3484T>C (p.Phe1162Leu) c.*3314T>C (n.*3314T>C) c.3064T>C (p.Phe1022Leu) c.238T>C (p.Phe80Leu) c.1277T>C (n.1277T>C) c.72T>C c.1140T>C c.2272T>C (p.Phe758Leu) c.3400T>C (p.Phe1134Leu) c.315T>C c.3580T>C (p.Phe1194Leu) c.3247T>C (p.Phe1083Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627543T>G | CA368996035 | CFTR | c.3490T>G (p.Phe1164Val) c.*3204T>G (n.*3204T>G) c.3307T>G (p.Phe1103Val) c.*143T>G (n.*143T>G) c.*151T>G (n.*151T>G) c.*1865T>G (n.*1865T>G) c.3484T>G (p.Phe1162Val) c.*3314T>G (n.*3314T>G) c.3064T>G (p.Phe1022Val) c.238T>G (p.Phe80Val) c.1277T>G (n.1277T>G) c.72T>G c.1140T>G c.2272T>G (p.Phe758Val) c.3400T>G (p.Phe1134Val) c.315T>G c.3580T>G (p.Phe1194Val) c.3247T>G (p.Phe1083Val) | |
| 7 | g.117627543T= | CA1737398613 | CFTR | c.3490T= (p.Phe1164=) c.*3204T= (n.*3204T=) c.3307T= (p.Phe1103=) c.*143T= (n.*143T=) c.*151T= (n.*151T=) c.*1865T= (n.*1865T=) c.3484T= (p.Phe1162=) c.*3314T= (n.*3314T=) c.3064T= (p.Phe1022=) c.238T= (p.Phe80=) c.1277T= (n.1277T=) c.72T= c.1140T= c.2272T= (p.Phe758=) c.3400T= (p.Phe1134=) c.315T= c.3580T= (p.Phe1194=) c.3247T= (p.Phe1083=) | |
| 7 | g.117627545dup | CA325610 | CFTR | c.3492dup (p.Lys1165Ter) c.*3206dup (n.*3206dup) c.3309dup (p.Lys1104Ter) c.*145dup (n.*145dup) c.*153dup (n.*153dup) c.*1867dup (n.*1867dup) c.3486dup (p.Lys1163Ter) c.*3316dup (n.*3316dup) c.3066dup (p.Lys1023Ter) c.240dup (p.Lys81Ter) c.1279dup (n.1279dup) c.74dup c.1142dup c.2274dup (p.Lys759Ter) c.3402dup (p.Lys1135Ter) c.317dup c.3582dup (p.Lys1195Ter) c.3249dup (p.Lys1084Ter) | dbSNP |
| 7 | g.117627545del | CA2695199623 | CFTR | c.3492del (p.Phe1164LeufsTer?) c.*3206del (n.*3206del) c.3309del (p.Phe1103LeufsTer28) c.3492del (p.Phe1164LeufsTer28) c.*145del (n.*145del) c.*153del (n.*153del) c.*1867del (n.*1867del) c.3486del (p.Phe1162LeufsTer28) c.*3316del (n.*3316del) c.3066del (p.Phe1022LeufsTer28) c.240del (p.Phe80LeufsTer28) c.1279del (n.1279del) c.74del c.1142del c.2274del (p.Phe758LeufsTer28) c.3402del (p.Phe1134LeufsTer28) c.317del c.3582del (p.Phe1194LeufsTer28) c.3249del (p.Phe1083LeufsTer28) | |
| 7 | g.117627544T>A | CA368996048 | CFTR | c.3491T>A (p.Phe1164Tyr) c.*3205T>A (n.*3205T>A) c.3308T>A (p.Phe1103Tyr) c.*144T>A (n.*144T>A) c.*152T>A (n.*152T>A) c.*1866T>A (n.*1866T>A) c.3485T>A (p.Phe1162Tyr) c.*3315T>A (n.*3315T>A) c.3065T>A (p.Phe1022Tyr) c.239T>A (p.Phe80Tyr) c.1278T>A (n.1278T>A) c.73T>A c.1141T>A c.2273T>A (p.Phe758Tyr) c.3401T>A (p.Phe1134Tyr) c.316T>A c.3581T>A (p.Phe1194Tyr) c.3248T>A (p.Phe1083Tyr) | |
| 7 | g.117627544T>C | CA368996045 | CFTR | c.3491T>C (p.Phe1164Ser) c.*3205T>C (n.*3205T>C) c.3308T>C (p.Phe1103Ser) c.*144T>C (n.*144T>C) c.*152T>C (n.*152T>C) c.*1866T>C (n.*1866T>C) c.3485T>C (p.Phe1162Ser) c.*3315T>C (n.*3315T>C) c.3065T>C (p.Phe1022Ser) c.239T>C (p.Phe80Ser) c.1278T>C (n.1278T>C) c.73T>C c.1141T>C c.2273T>C (p.Phe758Ser) c.3401T>C (p.Phe1134Ser) c.316T>C c.3581T>C (p.Phe1194Ser) c.3248T>C (p.Phe1083Ser) | |
| 7 | g.117627544T>G | CA368996043 | CFTR | c.3491T>G (p.Phe1164Cys) c.*3205T>G (n.*3205T>G) c.3308T>G (p.Phe1103Cys) c.*144T>G (n.*144T>G) c.*152T>G (n.*152T>G) c.*1866T>G (n.*1866T>G) c.3485T>G (p.Phe1162Cys) c.*3315T>G (n.*3315T>G) c.3065T>G (p.Phe1022Cys) c.239T>G (p.Phe80Cys) c.1278T>G (n.1278T>G) c.73T>G c.1141T>G c.2273T>G (p.Phe758Cys) c.3401T>G (p.Phe1134Cys) c.316T>G c.3581T>G (p.Phe1194Cys) c.3248T>G (p.Phe1083Cys) | |
| 7 | g.117627545T>A | CA368996051 | CFTR | c.3492T>A (p.Phe1164Leu) c.*3206T>A (n.*3206T>A) c.3309T>A (p.Phe1103Leu) c.*145T>A (n.*145T>A) c.*153T>A (n.*153T>A) c.*1867T>A (n.*1867T>A) c.3486T>A (p.Phe1162Leu) c.*3316T>A (n.*3316T>A) c.3066T>A (p.Phe1022Leu) c.240T>A (p.Phe80Leu) c.1279T>A (n.1279T>A) c.74T>A c.1142T>A c.2274T>A (p.Phe758Leu) c.3402T>A (p.Phe1134Leu) c.317T>A c.3582T>A (p.Phe1194Leu) c.3249T>A (p.Phe1083Leu) | |
| 7 | g.117627545T>C | CA457231168 | CFTR | c.3492T>C (p.Phe1164=) c.*3206T>C (n.*3206T>C) c.3309T>C (p.Phe1103=) c.*145T>C (n.*145T>C) c.*153T>C (n.*153T>C) c.*1867T>C (n.*1867T>C) c.3486T>C (p.Phe1162=) c.*3316T>C (n.*3316T>C) c.3066T>C (p.Phe1022=) c.240T>C (p.Phe80=) c.1279T>C (n.1279T>C) c.74T>C c.1142T>C c.2274T>C (p.Phe758=) c.3402T>C (p.Phe1134=) c.317T>C c.3582T>C (p.Phe1194=) c.3249T>C (p.Phe1083=) | |
| 7 | g.117627545T>G | CA368996052 | CFTR | c.3492T>G (p.Phe1164Leu) c.*3206T>G (n.*3206T>G) c.3309T>G (p.Phe1103Leu) c.*145T>G (n.*145T>G) c.*153T>G (n.*153T>G) c.*1867T>G (n.*1867T>G) c.3486T>G (p.Phe1162Leu) c.*3316T>G (n.*3316T>G) c.3066T>G (p.Phe1022Leu) c.240T>G (p.Phe80Leu) c.1279T>G (n.1279T>G) c.74T>G c.1142T>G c.2274T>G (p.Phe758Leu) c.3402T>G (p.Phe1134Leu) c.317T>G c.3582T>G (p.Phe1194Leu) c.3249T>G (p.Phe1083Leu) | |
| 7 | g.117627546A>C | CA368996053 | CFTR | c.3493A>C (p.Lys1165Gln) c.*3207A>C (n.*3207A>C) c.3310A>C (p.Lys1104Gln) c.*146A>C (n.*146A>C) c.*154A>C (n.*154A>C) c.*1868A>C (n.*1868A>C) c.3487A>C (p.Lys1163Gln) c.*3317A>C (n.*3317A>C) c.3067A>C (p.Lys1023Gln) c.241A>C (p.Lys81Gln) c.1280A>C (n.1280A>C) c.75A>C c.1143A>C c.2275A>C (p.Lys759Gln) c.3403A>C (p.Lys1135Gln) c.318A>C c.3583A>C (p.Lys1195Gln) c.3250A>C (p.Lys1084Gln) | |
| 7 | g.117627546A>G | CA368996054 | CFTR | c.3493A>G (p.Lys1165Glu) c.*3207A>G (n.*3207A>G) c.3310A>G (p.Lys1104Glu) c.*146A>G (n.*146A>G) c.*154A>G (n.*154A>G) c.*1868A>G (n.*1868A>G) c.3487A>G (p.Lys1163Glu) c.*3317A>G (n.*3317A>G) c.3067A>G (p.Lys1023Glu) c.241A>G (p.Lys81Glu) c.1280A>G (n.1280A>G) c.75A>G c.1143A>G c.2275A>G (p.Lys759Glu) c.3403A>G (p.Lys1135Glu) c.318A>G c.3583A>G (p.Lys1195Glu) c.3250A>G (p.Lys1084Glu) | |
| 7 | g.117627546A>T | CA368996055 | CFTR | c.3493A>T (p.Lys1165Ter) c.*3207A>T (n.*3207A>T) c.3310A>T (p.Lys1104Ter) c.*146A>T (n.*146A>T) c.*154A>T (n.*154A>T) c.*1868A>T (n.*1868A>T) c.3487A>T (p.Lys1163Ter) c.*3317A>T (n.*3317A>T) c.3067A>T (p.Lys1023Ter) c.241A>T (p.Lys81Ter) c.1280A>T (n.1280A>T) c.75A>T c.1143A>T c.2275A>T (p.Lys759Ter) c.3403A>T (p.Lys1135Ter) c.318A>T c.3583A>T (p.Lys1195Ter) c.3250A>T (p.Lys1084Ter) | |
| 7 | g.117627546_117627547delinsT | CA2580076325 | CFTR | c.3493_3494delinsT (p.Lys1165CysfsTer?) c.*3207_*3208delinsT (n.*3207_*3208delinsT) c.3310_3311delinsT (p.Lys1104CysfsTer27) c.3493_3494delinsT (p.Lys1165CysfsTer27) c.*146_*147delinsT (n.*146_*147delinsT) c.*154_*155delinsT (n.*154_*155delinsT) c.*1868_*1869delinsT (n.*1868_*1869delinsT) c.3487_3488delinsT (p.Lys1163CysfsTer27) c.*3317_*3318delinsT (n.*3317_*3318delinsT) c.3067_3068delinsT (p.Lys1023CysfsTer27) c.241_242delinsT (p.Lys81CysfsTer27) c.1280_1281delinsT (n.1280_1281delinsT) c.75_76delinsT c.1143_1144delinsT c.2275_2276delinsT (p.Lys759CysfsTer27) c.3403_3404delinsT (p.Lys1135CysfsTer27) c.318_319delinsT c.3583_3584delinsT (p.Lys1195CysfsTer27) c.3250_3251delinsT (p.Lys1084CysfsTer27) | |
| 7 | g.117627547A= | CA1737398614 | CFTR | c.3494A= (p.Lys1165=) c.*3208A= (n.*3208A=) c.3311A= (p.Lys1104=) c.*147A= (n.*147A=) c.*155A= (n.*155A=) c.*1869A= (n.*1869A=) c.3488A= (p.Lys1163=) c.*3318A= (n.*3318A=) c.3068A= (p.Lys1023=) c.242A= (p.Lys81=) c.1281A= (n.1281A=) c.76A= c.1144A= c.2276A= (p.Lys759=) c.3404A= (p.Lys1135=) c.319A= c.3584A= (p.Lys1195=) c.3251A= (p.Lys1084=) | |
| 7 | g.117627547A>C | CA368996057 | CFTR | c.3494A>C (p.Lys1165Thr) c.*3208A>C (n.*3208A>C) c.3311A>C (p.Lys1104Thr) c.*147A>C (n.*147A>C) c.*155A>C (n.*155A>C) c.*1869A>C (n.*1869A>C) c.3488A>C (p.Lys1163Thr) c.*3318A>C (n.*3318A>C) c.3068A>C (p.Lys1023Thr) c.242A>C (p.Lys81Thr) c.1281A>C (n.1281A>C) c.76A>C c.1144A>C c.2276A>C (p.Lys759Thr) c.3404A>C (p.Lys1135Thr) c.319A>C c.3584A>C (p.Lys1195Thr) c.3251A>C (p.Lys1084Thr) | dbSNP |
| 7 | g.117627547A>G | CA4451486 | CFTR | c.3494A>G (p.Lys1165Arg) c.*3208A>G (n.*3208A>G) c.3311A>G (p.Lys1104Arg) c.*147A>G (n.*147A>G) c.*155A>G (n.*155A>G) c.*1869A>G (n.*1869A>G) c.3488A>G (p.Lys1163Arg) c.*3318A>G (n.*3318A>G) c.3068A>G (p.Lys1023Arg) c.242A>G (p.Lys81Arg) c.1281A>G (n.1281A>G) c.76A>G c.1144A>G c.2276A>G (p.Lys759Arg) c.3404A>G (p.Lys1135Arg) c.319A>G c.3584A>G (p.Lys1195Arg) c.3251A>G (p.Lys1084Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627547A>T | CA368996060 | CFTR | c.3494A>T (p.Lys1165Met) c.*3208A>T (n.*3208A>T) c.3311A>T (p.Lys1104Met) c.*147A>T (n.*147A>T) c.*155A>T (n.*155A>T) c.*1869A>T (n.*1869A>T) c.3488A>T (p.Lys1163Met) c.*3318A>T (n.*3318A>T) c.3068A>T (p.Lys1023Met) c.242A>T (p.Lys81Met) c.1281A>T (n.1281A>T) c.76A>T c.1144A>T c.2276A>T (p.Lys759Met) c.3404A>T (p.Lys1135Met) c.319A>T c.3584A>T (p.Lys1195Met) c.3251A>T (p.Lys1084Met) | |
| 7 | g.117627547_117627548delinsAG | CA1737398615 | CFTR | c.3494_3495delinsAG (p.Lys1165=) c.*3208_*3209delinsAG (n.*3208_*3209delinsAG) c.3311_3312delinsAG (p.Lys1104=) c.*147_*148delinsAG (n.*147_*148delinsAG) c.*155_*156delinsAG (n.*155_*156delinsAG) c.*1869_*1870delinsAG (n.*1869_*1870delinsAG) c.3488_3489delinsAG (p.Lys1163=) c.*3318_*3319delinsAG (n.*3318_*3319delinsAG) c.3068_3069delinsAG (p.Lys1023=) c.242_243delinsAG (p.Lys81=) c.1281_1282delinsAG (n.1281_1282delinsAG) c.76_77delinsAG c.1144_1145delinsAG c.2276_2277delinsAG (p.Lys759=) c.3404_3405delinsAG (p.Lys1135=) c.319_320delinsAG c.3584_3585delinsAG (p.Lys1195=) c.3251_3252delinsAG (p.Lys1084=) | |
| 7 | g.117627548del | CA16041136 | CFTR | c.3495del (p.Lys1165AsnfsTer?) c.*3209del (n.*3209del) c.3312del (p.Lys1104AsnfsTer27) c.3495del (p.Lys1165AsnfsTer27) c.*148del (n.*148del) c.*156del (n.*156del) c.*1870del (n.*1870del) c.3489del (p.Lys1163AsnfsTer27) c.*3319del (n.*3319del) c.3069del (p.Lys1023AsnfsTer27) c.243del (p.Lys81AsnfsTer27) c.1282del (n.1282del) c.77del c.1145del c.2277del (p.Lys759AsnfsTer27) c.3405del (p.Lys1135AsnfsTer27) c.320del c.3585del (p.Lys1195AsnfsTer27) c.3252del (p.Lys1084AsnfsTer27) | dbSNP |
| 7 | g.117627548G>A | CA457231170 | CFTR | c.3495G>A (p.Lys1165=) c.*3209G>A (n.*3209G>A) c.3312G>A (p.Lys1104=) c.*148G>A (n.*148G>A) c.*156G>A (n.*156G>A) c.*1870G>A (n.*1870G>A) c.3489G>A (p.Lys1163=) c.*3319G>A (n.*3319G>A) c.3069G>A (p.Lys1023=) c.243G>A (p.Lys81=) c.1282G>A (n.1282G>A) c.77G>A c.1145G>A c.2277G>A (p.Lys759=) c.3405G>A (p.Lys1135=) c.320G>A c.3585G>A (p.Lys1195=) c.3252G>A (p.Lys1084=) | |
| 7 | g.117627548G>C | CA368996066 | CFTR | c.3495G>C (p.Lys1165Asn) c.*3209G>C (n.*3209G>C) c.3312G>C (p.Lys1104Asn) c.*148G>C (n.*148G>C) c.*156G>C (n.*156G>C) c.*1870G>C (n.*1870G>C) c.3489G>C (p.Lys1163Asn) c.*3319G>C (n.*3319G>C) c.3069G>C (p.Lys1023Asn) c.243G>C (p.Lys81Asn) c.1282G>C (n.1282G>C) c.77G>C c.1145G>C c.2277G>C (p.Lys759Asn) c.3405G>C (p.Lys1135Asn) c.320G>C c.3585G>C (p.Lys1195Asn) c.3252G>C (p.Lys1084Asn) | |
| 7 | g.117627548G>T | CA368996068 | CFTR | c.3495G>T (p.Lys1165Asn) c.*3209G>T (n.*3209G>T) c.3312G>T (p.Lys1104Asn) c.*148G>T (n.*148G>T) c.*156G>T (n.*156G>T) c.*1870G>T (n.*1870G>T) c.3489G>T (p.Lys1163Asn) c.*3319G>T (n.*3319G>T) c.3069G>T (p.Lys1023Asn) c.243G>T (p.Lys81Asn) c.1282G>T (n.1282G>T) c.77G>T c.1145G>T c.2277G>T (p.Lys759Asn) c.3405G>T (p.Lys1135Asn) c.320G>T c.3585G>T (p.Lys1195Asn) c.3252G>T (p.Lys1084Asn) | |
| 7 | g.117627549T>A | CA368996073 | CFTR | c.3496T>A (p.Phe1166Ile) c.*3210T>A (n.*3210T>A) c.3313T>A (p.Phe1105Ile) c.*149T>A (n.*149T>A) c.*157T>A (n.*157T>A) c.*1871T>A (n.*1871T>A) c.3490T>A (p.Phe1164Ile) c.*3320T>A (n.*3320T>A) c.3070T>A (p.Phe1024Ile) c.244T>A (p.Phe82Ile) c.1283T>A (n.1283T>A) c.78T>A c.1146T>A c.2278T>A (p.Phe760Ile) c.3406T>A (p.Phe1136Ile) c.321T>A c.3586T>A (p.Phe1196Ile) c.3253T>A (p.Phe1085Ile) | |
| 7 | g.117627549T>C | CA4451487 | CFTR | c.3496T>C (p.Phe1166Leu) c.*3210T>C (n.*3210T>C) c.3313T>C (p.Phe1105Leu) c.*149T>C (n.*149T>C) c.*157T>C (n.*157T>C) c.*1871T>C (n.*1871T>C) c.3490T>C (p.Phe1164Leu) c.*3320T>C (n.*3320T>C) c.3070T>C (p.Phe1024Leu) c.244T>C (p.Phe82Leu) c.1283T>C (n.1283T>C) c.78T>C c.1146T>C c.2278T>C (p.Phe760Leu) c.3406T>C (p.Phe1136Leu) c.321T>C c.3586T>C (p.Phe1196Leu) c.3253T>C (p.Phe1085Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.117627549T>G | CA368996078 | CFTR | c.3496T>G (p.Phe1166Val) c.*3210T>G (n.*3210T>G) c.3313T>G (p.Phe1105Val) c.*149T>G (n.*149T>G) c.*157T>G (n.*157T>G) c.*1871T>G (n.*1871T>G) c.3490T>G (p.Phe1164Val) c.*3320T>G (n.*3320T>G) c.3070T>G (p.Phe1024Val) c.244T>G (p.Phe82Val) c.1283T>G (n.1283T>G) c.78T>G c.1146T>G c.2278T>G (p.Phe760Val) c.3406T>G (p.Phe1136Val) c.321T>G c.3586T>G (p.Phe1196Val) c.3253T>G (p.Phe1085Val) | |
| 7 | g.117627549T= | CA1737398616 | CFTR | c.3496T= (p.Phe1166=) c.*3210T= (n.*3210T=) c.3313T= (p.Phe1105=) c.*149T= (n.*149T=) c.*157T= (n.*157T=) c.*1871T= (n.*1871T=) c.3490T= (p.Phe1164=) c.*3320T= (n.*3320T=) c.3070T= (p.Phe1024=) c.244T= (p.Phe82=) c.1283T= (n.1283T=) c.78T= c.1146T= c.2278T= (p.Phe760=) c.3406T= (p.Phe1136=) c.321T= c.3586T= (p.Phe1196=) c.3253T= (p.Phe1085=) | |
| 7 | g.117627550del | CA2695208375 | CFTR | c.3497del (p.Phe1166SerfsTer?) c.*3211del (n.*3211del) c.3314del (p.Phe1105SerfsTer26) c.3497del (p.Phe1166SerfsTer26) c.*150del (n.*150del) c.*158del (n.*158del) c.*1872del (n.*1872del) c.3491del (p.Phe1164SerfsTer26) c.*3321del (n.*3321del) c.3071del (p.Phe1024SerfsTer26) c.245del (p.Phe82SerfsTer26) c.1284del (n.1284del) c.79del c.1147del c.2279del (p.Phe760SerfsTer26) c.3407del (p.Phe1136SerfsTer26) c.322del c.3587del (p.Phe1196SerfsTer26) c.3254del (p.Phe1085SerfsTer26) | |
| 7 | g.117627550T>A | CA368996086 | CFTR | c.3497T>A (p.Phe1166Tyr) c.*3211T>A (n.*3211T>A) c.3314T>A (p.Phe1105Tyr) c.*150T>A (n.*150T>A) c.*158T>A (n.*158T>A) c.*1872T>A (n.*1872T>A) c.3491T>A (p.Phe1164Tyr) c.*3321T>A (n.*3321T>A) c.3071T>A (p.Phe1024Tyr) c.245T>A (p.Phe82Tyr) c.1284T>A (n.1284T>A) c.79T>A c.1147T>A c.2279T>A (p.Phe760Tyr) c.3407T>A (p.Phe1136Tyr) c.322T>A c.3587T>A (p.Phe1196Tyr) c.3254T>A (p.Phe1085Tyr) | |
| 7 | g.117627550T>C | CA368996082 | CFTR | c.3497T>C (p.Phe1166Ser) c.*3211T>C (n.*3211T>C) c.3314T>C (p.Phe1105Ser) c.*150T>C (n.*150T>C) c.*158T>C (n.*158T>C) c.*1872T>C (n.*1872T>C) c.3491T>C (p.Phe1164Ser) c.*3321T>C (n.*3321T>C) c.3071T>C (p.Phe1024Ser) c.245T>C (p.Phe82Ser) c.1284T>C (n.1284T>C) c.79T>C c.1147T>C c.2279T>C (p.Phe760Ser) c.3407T>C (p.Phe1136Ser) c.322T>C c.3587T>C (p.Phe1196Ser) c.3254T>C (p.Phe1085Ser) | |
| 7 | g.117627550T>G | CA327215 | CFTR | c.3497T>G (p.Phe1166Cys) c.*3211T>G (n.*3211T>G) c.3314T>G (p.Phe1105Cys) c.*150T>G (n.*150T>G) c.*158T>G (n.*158T>G) c.*1872T>G (n.*1872T>G) c.3491T>G (p.Phe1164Cys) c.*3321T>G (n.*3321T>G) c.3071T>G (p.Phe1024Cys) c.245T>G (p.Phe82Cys) c.1284T>G (n.1284T>G) c.79T>G c.1147T>G c.2279T>G (p.Phe760Cys) c.3407T>G (p.Phe1136Cys) c.322T>G c.3587T>G (p.Phe1196Cys) c.3254T>G (p.Phe1085Cys) | dbSNP gnomAD v4 |
| 7 | g.117627550T= | CA1737398617 | CFTR | c.3497T= (p.Phe1166=) c.*3211T= (n.*3211T=) c.3314T= (p.Phe1105=) c.*150T= (n.*150T=) c.*158T= (n.*158T=) c.*1872T= (n.*1872T=) c.3491T= (p.Phe1164=) c.*3321T= (n.*3321T=) c.3071T= (p.Phe1024=) c.245T= (p.Phe82=) c.1284T= (n.1284T=) c.79T= c.1147T= c.2279T= (p.Phe760=) c.3407T= (p.Phe1136=) c.322T= c.3587T= (p.Phe1196=) c.3254T= (p.Phe1085=) |