| 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.117627578_117627590del | CA2580076327 | CFTR | c.3517+8_3517+20del (n.3517+8_3517+20del) c.*3239_*3251del (n.*3239_*3251del) c.3342_3354del (p.Thr1115AsnfsTer12) c.3525_3537del (p.Thr1176AsnfsTer12) c.*178_*190del (n.*178_*190del) c.*186_*198del (n.*186_*198del) c.*1900_*1912del (n.*1900_*1912del) c.3519_3531del (p.Thr1174AsnfsTer12) c.*3349_*3361del (n.*3349_*3361del) c.3099_3111del (p.Thr1034AsnfsTer12) c.273_285del (p.Thr92AsnfsTer12) c.1312_1324del (n.1312_1324del) c.107_119del c.1167+8_1167+20del c.2307_2319del (p.Thr770AsnfsTer12) c.3435_3447del (p.Thr1146AsnfsTer12) c.350_362del c.3615_3627del (p.Thr1206AsnfsTer12) c.3282_3294del (p.Thr1095AsnfsTer12) | ClinVar |
| 7 | g.117627585T>A | CA368996276 | CFTR | c.3517+15T>A (n.3517+15T>A) c.*3246T>A (n.*3246T>A) c.3349T>A (p.Ser1117Thr) c.3532T>A (p.Ser1178Thr) c.*185T>A (n.*185T>A) c.*193T>A (n.*193T>A) c.*1907T>A (n.*1907T>A) c.3526T>A (p.Ser1176Thr) c.*3356T>A (n.*3356T>A) c.3106T>A (p.Ser1036Thr) c.280T>A (p.Ser94Thr) c.1319T>A (n.1319T>A) c.114T>A c.1167+15T>A c.2314T>A (p.Ser772Thr) c.3442T>A (p.Ser1148Thr) c.357T>A c.3622T>A (p.Ser1208Thr) c.3289T>A (p.Ser1097Thr) | ClinVar |
| 7 | g.117627585T>C | CA368996278 | CFTR | c.3517+15T>C (n.3517+15T>C) c.*3246T>C (n.*3246T>C) c.3349T>C (p.Ser1117Pro) c.3532T>C (p.Ser1178Pro) c.*185T>C (n.*185T>C) c.*193T>C (n.*193T>C) c.*1907T>C (n.*1907T>C) c.3526T>C (p.Ser1176Pro) c.*3356T>C (n.*3356T>C) c.3106T>C (p.Ser1036Pro) c.280T>C (p.Ser94Pro) c.1319T>C (n.1319T>C) c.114T>C c.1167+15T>C c.2314T>C (p.Ser772Pro) c.3442T>C (p.Ser1148Pro) c.357T>C c.3622T>C (p.Ser1208Pro) c.3289T>C (p.Ser1097Pro) | |
| 7 | g.117627585T>G | CA368996280 | CFTR | c.3517+15T>G (n.3517+15T>G) c.*3246T>G (n.*3246T>G) c.3349T>G (p.Ser1117Ala) c.3532T>G (p.Ser1178Ala) c.*185T>G (n.*185T>G) c.*193T>G (n.*193T>G) c.*1907T>G (n.*1907T>G) c.3526T>G (p.Ser1176Ala) c.*3356T>G (n.*3356T>G) c.3106T>G (p.Ser1036Ala) c.280T>G (p.Ser94Ala) c.1319T>G (n.1319T>G) c.114T>G c.1167+15T>G c.2314T>G (p.Ser772Ala) c.3442T>G (p.Ser1148Ala) c.357T>G c.3622T>G (p.Ser1208Ala) c.3289T>G (p.Ser1097Ala) | |
| 7 | g.117627585_117627588dup | CA254117 | CFTR | c.3517+15_3517+18dup (n.3517+15_3517+18dup) c.*3246_*3249dup (n.*3246_*3249dup) c.3349_3352dup (p.Thr1118IlefsTer17) c.3532_3535dup (p.Thr1179IlefsTer17) c.*185_*188dup (n.*185_*188dup) c.*193_*196dup (n.*193_*196dup) c.*1907_*1910dup (n.*1907_*1910dup) c.3526_3529dup (p.Thr1177IlefsTer17) c.*3356_*3359dup (n.*3356_*3359dup) c.3106_3109dup (p.Thr1037IlefsTer17) c.280_283dup (p.Thr95IlefsTer17) c.1319_1322dup (n.1319_1322dup) c.114_117dup c.1167+15_1167+18dup c.2314_2317dup (p.Thr773IlefsTer17) c.3442_3445dup (p.Thr1149IlefsTer17) c.357_360dup c.3622_3625dup (p.Thr1209IlefsTer17) c.3289_3292dup (p.Thr1098IlefsTer17) | ClinVar dbSNP |
| 7 | g.117627585_117627589delinsTCAAC | CA1737398634 | CFTR | c.3517+15_3517+19delinsTCAAC (n.3517+15_3517+19delinsTCAAC) c.*3246_*3250delinsTCAAC (n.*3246_*3250delinsTCAAC) c.3349_3353delinsTCAAC (p.Ser1117=) c.3532_3536delinsTCAAC (p.Ser1178=) c.*185_*189delinsTCAAC (n.*185_*189delinsTCAAC) c.*193_*197delinsTCAAC (n.*193_*197delinsTCAAC) c.*1907_*1911delinsTCAAC (n.*1907_*1911delinsTCAAC) c.3526_3530delinsTCAAC (p.Ser1176=) c.*3356_*3360delinsTCAAC (n.*3356_*3360delinsTCAAC) c.3106_3110delinsTCAAC (p.Ser1036=) c.280_284delinsTCAAC (p.Ser94=) c.1319_1323delinsTCAAC (n.1319_1323delinsTCAAC) c.114_118delinsTCAAC c.1167+15_1167+19delinsTCAAC c.2314_2318delinsTCAAC (p.Ser772=) c.3442_3446delinsTCAAC (p.Ser1148=) c.357_361delinsTCAAC c.3622_3626delinsTCAAC (p.Ser1208=) c.3289_3293delinsTCAAC (p.Ser1097=) | |
| 7 | g.117627586C>A | CA16041137 | CFTR | c.3517+16C>A (n.3517+16C>A) c.*3247C>A (n.*3247C>A) c.3350C>A (p.Ser1117Ter) c.3533C>A (p.Ser1178Ter) c.*186C>A (n.*186C>A) c.*194C>A (n.*194C>A) c.*1908C>A (n.*1908C>A) c.3527C>A (p.Ser1176Ter) c.*3357C>A (n.*3357C>A) c.3107C>A (p.Ser1036Ter) c.281C>A (p.Ser94Ter) c.1320C>A (n.1320C>A) c.115C>A c.1167+16C>A c.2315C>A (p.Ser772Ter) c.3443C>A (p.Ser1148Ter) c.358C>A c.3623C>A (p.Ser1208Ter) c.3290C>A (p.Ser1097Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627586C= | CA1737398635 | CFTR | c.3517+16C= (n.3517+16C=) c.*3247C= (n.*3247C=) c.3350C= (p.Ser1117=) c.3533C= (p.Ser1178=) c.*186C= (n.*186C=) c.*194C= (n.*194C=) c.*1908C= (n.*1908C=) c.3527C= (p.Ser1176=) c.*3357C= (n.*3357C=) c.3107C= (p.Ser1036=) c.281C= (p.Ser94=) c.1320C= (n.1320C=) c.115C= c.1167+16C= c.2315C= (p.Ser772=) c.3443C= (p.Ser1148=) c.358C= c.3623C= (p.Ser1208=) c.3290C= (p.Ser1097=) | |
| 7 | g.117627586C>G | CA368996286 | CFTR | c.3517+16C>G (n.3517+16C>G) c.*3247C>G (n.*3247C>G) c.3350C>G (p.Ser1117Ter) c.3533C>G (p.Ser1178Ter) c.*186C>G (n.*186C>G) c.*194C>G (n.*194C>G) c.*1908C>G (n.*1908C>G) c.3527C>G (p.Ser1176Ter) c.*3357C>G (n.*3357C>G) c.3107C>G (p.Ser1036Ter) c.281C>G (p.Ser94Ter) c.1320C>G (n.1320C>G) c.115C>G c.1167+16C>G c.2315C>G (p.Ser772Ter) c.3443C>G (p.Ser1148Ter) c.358C>G c.3623C>G (p.Ser1208Ter) c.3290C>G (p.Ser1097Ter) | |
| 7 | g.117627586C>T | CA368996288 | CFTR | c.3517+16C>T (n.3517+16C>T) c.*3247C>T (n.*3247C>T) c.3350C>T (p.Ser1117Leu) c.3533C>T (p.Ser1178Leu) c.*186C>T (n.*186C>T) c.*194C>T (n.*194C>T) c.*1908C>T (n.*1908C>T) c.3527C>T (p.Ser1176Leu) c.*3357C>T (n.*3357C>T) c.3107C>T (p.Ser1036Leu) c.281C>T (p.Ser94Leu) c.1320C>T (n.1320C>T) c.115C>T c.1167+16C>T c.2315C>T (p.Ser772Leu) c.3443C>T (p.Ser1148Leu) c.358C>T c.3623C>T (p.Ser1208Leu) c.3290C>T (p.Ser1097Leu) | COSMIC |
| 7 | g.117627589_117627592del | CA327226 | CFTR | c.3517+19_3517+22del (n.3517+19_3517+22del) c.*3250_*3253del (n.*3250_*3253del) c.3353_3356del (p.Thr1118AsnfsTer12) c.3536_3539del (p.Thr1179AsnfsTer12) c.*189_*192del (n.*189_*192del) c.*197_*200del (n.*197_*200del) c.*1911_*1914del (n.*1911_*1914del) c.3530_3533del (p.Thr1177AsnfsTer12) c.*3360_*3363del (n.*3360_*3363del) c.3110_3113del (p.Thr1037AsnfsTer12) c.284_287del (p.Thr95AsnfsTer12) c.1323_1326del (n.1323_1326del) c.118_121del c.1167+19_1167+22del c.2318_2321del (p.Thr773AsnfsTer12) c.3446_3449del (p.Thr1149AsnfsTer12) c.361_364del c.3626_3629del (p.Thr1209AsnfsTer12) c.3293_3296del (p.Thr1098AsnfsTer12) | ClinVar dbSNP |
| 7 | g.117627587A= | CA1737398636 | CFTR | c.3517+17A= (n.3517+17A=) c.*3248A= (n.*3248A=) c.3351A= (p.Ser1117=) c.3534A= (p.Ser1178=) c.*187A= (n.*187A=) c.*195A= (n.*195A=) c.*1909A= (n.*1909A=) c.3528A= (p.Ser1176=) c.*3358A= (n.*3358A=) c.3108A= (p.Ser1036=) c.282A= (p.Ser94=) c.1321A= (n.1321A=) c.116A= c.1167+17A= c.2316A= (p.Ser772=) c.3444A= (p.Ser1148=) c.359A= c.3624A= (p.Ser1208=) c.3291A= (p.Ser1097=) | |
| 7 | g.117627587A>C | CA457231200 | CFTR | c.3517+17A>C (n.3517+17A>C) c.*3248A>C (n.*3248A>C) c.3351A>C (p.Ser1117=) c.3534A>C (p.Ser1178=) c.*187A>C (n.*187A>C) c.*195A>C (n.*195A>C) c.*1909A>C (n.*1909A>C) c.3528A>C (p.Ser1176=) c.*3358A>C (n.*3358A>C) c.3108A>C (p.Ser1036=) c.282A>C (p.Ser94=) c.1321A>C (n.1321A>C) c.116A>C c.1167+17A>C c.2316A>C (p.Ser772=) c.3444A>C (p.Ser1148=) c.359A>C c.3624A>C (p.Ser1208=) c.3291A>C (p.Ser1097=) | COSMIC |
| 7 | g.117627587A>G | CA457231201 | CFTR | c.3517+17A>G (n.3517+17A>G) c.*3248A>G (n.*3248A>G) c.3351A>G (p.Ser1117=) c.3534A>G (p.Ser1178=) c.*187A>G (n.*187A>G) c.*195A>G (n.*195A>G) c.*1909A>G (n.*1909A>G) c.3528A>G (p.Ser1176=) c.*3358A>G (n.*3358A>G) c.3108A>G (p.Ser1036=) c.282A>G (p.Ser94=) c.1321A>G (n.1321A>G) c.116A>G c.1167+17A>G c.2316A>G (p.Ser772=) c.3444A>G (p.Ser1148=) c.359A>G c.3624A>G (p.Ser1208=) c.3291A>G (p.Ser1097=) | dbSNP gnomAD v4 |
| 7 | g.117627587A>T | CA457231202 | CFTR | c.3517+17A>T (n.3517+17A>T) c.*3248A>T (n.*3248A>T) c.3351A>T (p.Ser1117=) c.3534A>T (p.Ser1178=) c.*187A>T (n.*187A>T) c.*195A>T (n.*195A>T) c.*1909A>T (n.*1909A>T) c.3528A>T (p.Ser1176=) c.*3358A>T (n.*3358A>T) c.3108A>T (p.Ser1036=) c.282A>T (p.Ser94=) c.1321A>T (n.1321A>T) c.116A>T c.1167+17A>T c.2316A>T (p.Ser772=) c.3444A>T (p.Ser1148=) c.359A>T c.3624A>T (p.Ser1208=) c.3291A>T (p.Ser1097=) | |
| 7 | g.117627588A>C | CA368996299 | CFTR | c.3517+18A>C (n.3517+18A>C) c.*3249A>C (n.*3249A>C) c.3352A>C (p.Thr1118Pro) c.3535A>C (p.Thr1179Pro) c.*188A>C (n.*188A>C) c.*196A>C (n.*196A>C) c.*1910A>C (n.*1910A>C) c.3529A>C (p.Thr1177Pro) c.*3359A>C (n.*3359A>C) c.3109A>C (p.Thr1037Pro) c.283A>C (p.Thr95Pro) c.1322A>C (n.1322A>C) c.117A>C c.1167+18A>C c.2317A>C (p.Thr773Pro) c.3445A>C (p.Thr1149Pro) c.360A>C c.3625A>C (p.Thr1209Pro) c.3292A>C (p.Thr1098Pro) | |
| 7 | g.117627588A>G | CA368996297 | CFTR | c.3517+18A>G (n.3517+18A>G) c.*3249A>G (n.*3249A>G) c.3352A>G (p.Thr1118Ala) c.3535A>G (p.Thr1179Ala) c.*188A>G (n.*188A>G) c.*196A>G (n.*196A>G) c.*1910A>G (n.*1910A>G) c.3529A>G (p.Thr1177Ala) c.*3359A>G (n.*3359A>G) c.3109A>G (p.Thr1037Ala) c.283A>G (p.Thr95Ala) c.1322A>G (n.1322A>G) c.117A>G c.1167+18A>G c.2317A>G (p.Thr773Ala) c.3445A>G (p.Thr1149Ala) c.360A>G c.3625A>G (p.Thr1209Ala) c.3292A>G (p.Thr1098Ala) | |
| 7 | g.117627588A>T | CA368996295 | CFTR | c.3517+18A>T (n.3517+18A>T) c.*3249A>T (n.*3249A>T) c.3352A>T (p.Thr1118Ser) c.3535A>T (p.Thr1179Ser) c.*188A>T (n.*188A>T) c.*196A>T (n.*196A>T) c.*1910A>T (n.*1910A>T) c.3529A>T (p.Thr1177Ser) c.*3359A>T (n.*3359A>T) c.3109A>T (p.Thr1037Ser) c.283A>T (p.Thr95Ser) c.1322A>T (n.1322A>T) c.117A>T c.1167+18A>T c.2317A>T (p.Thr773Ser) c.3445A>T (p.Thr1149Ser) c.360A>T c.3625A>T (p.Thr1209Ser) c.3292A>T (p.Thr1098Ser) | |
| 7 | g.117627589C>A | CA368996302 | CFTR | c.3517+19C>A (n.3517+19C>A) c.*3250C>A (n.*3250C>A) c.3353C>A (p.Thr1118Asn) c.3536C>A (p.Thr1179Asn) c.*189C>A (n.*189C>A) c.*197C>A (n.*197C>A) c.*1911C>A (n.*1911C>A) c.3530C>A (p.Thr1177Asn) c.*3360C>A (n.*3360C>A) c.3110C>A (p.Thr1037Asn) c.284C>A (p.Thr95Asn) c.1323C>A (n.1323C>A) c.118C>A c.1167+19C>A c.2318C>A (p.Thr773Asn) c.3446C>A (p.Thr1149Asn) c.361C>A c.3626C>A (p.Thr1209Asn) c.3293C>A (p.Thr1098Asn) | |
| 7 | g.117627589C>G | CA368996304 | CFTR | c.3517+19C>G (n.3517+19C>G) c.*3250C>G (n.*3250C>G) c.3353C>G (p.Thr1118Ser) c.3536C>G (p.Thr1179Ser) c.*189C>G (n.*189C>G) c.*197C>G (n.*197C>G) c.*1911C>G (n.*1911C>G) c.3530C>G (p.Thr1177Ser) c.*3360C>G (n.*3360C>G) c.3110C>G (p.Thr1037Ser) c.284C>G (p.Thr95Ser) c.1323C>G (n.1323C>G) c.118C>G c.1167+19C>G c.2318C>G (p.Thr773Ser) c.3446C>G (p.Thr1149Ser) c.361C>G c.3626C>G (p.Thr1209Ser) c.3293C>G (p.Thr1098Ser) | |
| 7 | g.117627589C>T | CA368996305 | CFTR | c.3517+19C>T (n.3517+19C>T) c.*3250C>T (n.*3250C>T) c.3353C>T (p.Thr1118Ile) c.3536C>T (p.Thr1179Ile) c.*189C>T (n.*189C>T) c.*197C>T (n.*197C>T) c.*1911C>T (n.*1911C>T) c.3530C>T (p.Thr1177Ile) c.*3360C>T (n.*3360C>T) c.3110C>T (p.Thr1037Ile) c.284C>T (p.Thr95Ile) c.1323C>T (n.1323C>T) c.118C>T c.1167+19C>T c.2318C>T (p.Thr773Ile) c.3446C>T (p.Thr1149Ile) c.361C>T c.3626C>T (p.Thr1209Ile) c.3293C>T (p.Thr1098Ile) | gnomAD v4 |
| 7 | g.117627590C>A | CA457231203 | CFTR | c.3517+20C>A (n.3517+20C>A) c.*3251C>A (n.*3251C>A) c.3354C>A (p.Thr1118=) c.3537C>A (p.Thr1179=) c.*190C>A (n.*190C>A) c.*198C>A (n.*198C>A) c.*1912C>A (n.*1912C>A) c.3531C>A (p.Thr1177=) c.*3361C>A (n.*3361C>A) c.3111C>A (p.Thr1037=) c.285C>A (p.Thr95=) c.1324C>A (n.1324C>A) c.119C>A c.1167+20C>A c.2319C>A (p.Thr773=) c.3447C>A (p.Thr1149=) c.362C>A c.3627C>A (p.Thr1209=) c.3294C>A (p.Thr1098=) | |
| 7 | g.117627590C= | CA1737398638 | CFTR | c.3517+20C= (n.3517+20C=) c.*3251C= (n.*3251C=) c.3354C= (p.Thr1118=) c.3537C= (p.Thr1179=) c.*190C= (n.*190C=) c.*198C= (n.*198C=) c.*1912C= (n.*1912C=) c.3531C= (p.Thr1177=) c.*3361C= (n.*3361C=) c.3111C= (p.Thr1037=) c.285C= (p.Thr95=) c.1324C= (n.1324C=) c.119C= c.1167+20C= c.2319C= (p.Thr773=) c.3447C= (p.Thr1149=) c.362C= c.3627C= (p.Thr1209=) c.3294C= (p.Thr1098=) | |
| 7 | g.117627590C>G | CA457231204 | CFTR | c.3517+20C>G (n.3517+20C>G) c.*3251C>G (n.*3251C>G) c.3354C>G (p.Thr1118=) c.3537C>G (p.Thr1179=) c.*190C>G (n.*190C>G) c.*198C>G (n.*198C>G) c.*1912C>G (n.*1912C>G) c.3531C>G (p.Thr1177=) c.*3361C>G (n.*3361C>G) c.3111C>G (p.Thr1037=) c.285C>G (p.Thr95=) c.1324C>G (n.1324C>G) c.119C>G c.1167+20C>G c.2319C>G (p.Thr773=) c.3447C>G (p.Thr1149=) c.362C>G c.3627C>G (p.Thr1209=) c.3294C>G (p.Thr1098=) | |
| 7 | g.117627590C>T | CA4451494 | CFTR | c.3517+20C>T (n.3517+20C>T) c.*3251C>T (n.*3251C>T) c.3354C>T (p.Thr1118=) c.3537C>T (p.Thr1179=) c.*190C>T (n.*190C>T) c.*198C>T (n.*198C>T) c.*1912C>T (n.*1912C>T) c.3531C>T (p.Thr1177=) c.*3361C>T (n.*3361C>T) c.3111C>T (p.Thr1037=) c.285C>T (p.Thr95=) c.1324C>T (n.1324C>T) c.119C>T c.1167+20C>T c.2319C>T (p.Thr773=) c.3447C>T (p.Thr1149=) c.362C>T c.3627C>T (p.Thr1209=) c.3294C>T (p.Thr1098=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627590_117627591delinsCA | CA1737398637 | CFTR | c.3517+20_3517+21delinsCA (n.3517+20_3517+21delinsCA) c.*3251_*3252delinsCA (n.*3251_*3252delinsCA) c.3354_3355delinsCA (p.Thr1118=) c.3537_3538delinsCA (p.Thr1179=) c.*190_*191delinsCA (n.*190_*191delinsCA) c.*198_*199delinsCA (n.*198_*199delinsCA) c.*1912_*1913delinsCA (n.*1912_*1913delinsCA) c.3531_3532delinsCA (p.Thr1177=) c.*3361_*3362delinsCA (n.*3361_*3362delinsCA) c.3111_3112delinsCA (p.Thr1037=) c.285_286delinsCA (p.Thr95=) c.1324_1325delinsCA (n.1324_1325delinsCA) c.119_120delinsCA c.1167+20_1167+21delinsCA c.2319_2320delinsCA (p.Thr773=) c.3447_3448delinsCA (p.Thr1149=) c.362_363delinsCA c.3627_3628delinsCA (p.Thr1209=) c.3294_3295delinsCA (p.Thr1098=) | |
| 7 | g.117627591A>C | CA368996307 | CFTR | c.3517+21A>C (n.3517+21A>C) c.*3252A>C (n.*3252A>C) c.3355A>C (p.Lys1119Gln) c.3538A>C (p.Lys1180Gln) c.*191A>C (n.*191A>C) c.*199A>C (n.*199A>C) c.*1913A>C (n.*1913A>C) c.3532A>C (p.Lys1178Gln) c.*3362A>C (n.*3362A>C) c.3112A>C (p.Lys1038Gln) c.286A>C (p.Lys96Gln) c.1325A>C (n.1325A>C) c.120A>C c.1167+21A>C c.2320A>C (p.Lys774Gln) c.3448A>C (p.Lys1150Gln) c.363A>C c.3628A>C (p.Lys1210Gln) c.3295A>C (p.Lys1099Gln) | |
| 7 | g.117627591A>G | CA368996309 | CFTR | c.3517+21A>G (n.3517+21A>G) c.*3252A>G (n.*3252A>G) c.3355A>G (p.Lys1119Glu) c.3538A>G (p.Lys1180Glu) c.*191A>G (n.*191A>G) c.*199A>G (n.*199A>G) c.*1913A>G (n.*1913A>G) c.3532A>G (p.Lys1178Glu) c.*3362A>G (n.*3362A>G) c.3112A>G (p.Lys1038Glu) c.286A>G (p.Lys96Glu) c.1325A>G (n.1325A>G) c.120A>G c.1167+21A>G c.2320A>G (p.Lys774Glu) c.3448A>G (p.Lys1150Glu) c.363A>G c.3628A>G (p.Lys1210Glu) c.3295A>G (p.Lys1099Glu) | |
| 7 | g.117627591A>T | CA368996311 | CFTR | c.3517+21A>T (n.3517+21A>T) c.*3252A>T (n.*3252A>T) c.3355A>T (p.Lys1119Ter) c.3538A>T (p.Lys1180Ter) c.*191A>T (n.*191A>T) c.*199A>T (n.*199A>T) c.*1913A>T (n.*1913A>T) c.3532A>T (p.Lys1178Ter) c.*3362A>T (n.*3362A>T) c.3112A>T (p.Lys1038Ter) c.286A>T (p.Lys96Ter) c.1325A>T (n.1325A>T) c.120A>T c.1167+21A>T c.2320A>T (p.Lys774Ter) c.3448A>T (p.Lys1150Ter) c.363A>T c.3628A>T (p.Lys1210Ter) c.3295A>T (p.Lys1099Ter) | |
| 7 | g.117627593del | CA327227 | CFTR | c.3517+23del (n.3517+23del) c.*3254del (n.*3254del) c.3357del (p.Lys1119AsnfsTer12) c.3540del (p.Lys1180AsnfsTer12) c.*193del (n.*193del) c.*201del (n.*201del) c.*1915del (n.*1915del) c.3534del (p.Lys1178AsnfsTer12) c.*3364del (n.*3364del) c.3114del (p.Lys1038AsnfsTer12) c.288del (p.Lys96AsnfsTer12) c.1327del (n.1327del) c.122del c.1167+23del c.2322del (p.Lys774AsnfsTer12) c.3450del (p.Lys1150AsnfsTer12) c.365del c.3630del (p.Lys1210AsnfsTer12) c.3297del (p.Lys1099AsnfsTer12) | ClinVar dbSNP |
| 7 | g.117627592A>C | CA368996315 | CFTR | c.3517+22A>C (n.3517+22A>C) c.*3253A>C (n.*3253A>C) c.3356A>C (p.Lys1119Thr) c.3539A>C (p.Lys1180Thr) c.*192A>C (n.*192A>C) c.*200A>C (n.*200A>C) c.*1914A>C (n.*1914A>C) c.3533A>C (p.Lys1178Thr) c.*3363A>C (n.*3363A>C) c.3113A>C (p.Lys1038Thr) c.287A>C (p.Lys96Thr) c.1326A>C (n.1326A>C) c.121A>C c.1167+22A>C c.2321A>C (p.Lys774Thr) c.3449A>C (p.Lys1150Thr) c.364A>C c.3629A>C (p.Lys1210Thr) c.3296A>C (p.Lys1099Thr) | |
| 7 | g.117627592A>G | CA368996316 | CFTR | c.3517+22A>G (n.3517+22A>G) c.*3253A>G (n.*3253A>G) c.3356A>G (p.Lys1119Arg) c.3539A>G (p.Lys1180Arg) c.*192A>G (n.*192A>G) c.*200A>G (n.*200A>G) c.*1914A>G (n.*1914A>G) c.3533A>G (p.Lys1178Arg) c.*3363A>G (n.*3363A>G) c.3113A>G (p.Lys1038Arg) c.287A>G (p.Lys96Arg) c.1326A>G (n.1326A>G) c.121A>G c.1167+22A>G c.2321A>G (p.Lys774Arg) c.3449A>G (p.Lys1150Arg) c.364A>G c.3629A>G (p.Lys1210Arg) c.3296A>G (p.Lys1099Arg) | |
| 7 | g.117627592A>T | CA368996317 | CFTR | c.3517+22A>T (n.3517+22A>T) c.*3253A>T (n.*3253A>T) c.3356A>T (p.Lys1119Ile) c.3539A>T (p.Lys1180Ile) c.*192A>T (n.*192A>T) c.*200A>T (n.*200A>T) c.*1914A>T (n.*1914A>T) c.3533A>T (p.Lys1178Ile) c.*3363A>T (n.*3363A>T) c.3113A>T (p.Lys1038Ile) c.287A>T (p.Lys96Ile) c.1326A>T (n.1326A>T) c.121A>T c.1167+22A>T c.2321A>T (p.Lys774Ile) c.3449A>T (p.Lys1150Ile) c.364A>T c.3629A>T (p.Lys1210Ile) c.3296A>T (p.Lys1099Ile) | |
| 7 | g.117627592_117627607del | CA2580076335 | CFTR | c.3517+22_3517+37del (n.3517+22_3517+37del) c.*3253_*3268del (n.*3253_*3268del) c.3356_3371del (p.Lys1119ThrfsTer7) c.3539_3554del (p.Lys1180ThrfsTer7) c.*192_*207del (n.*192_*207del) c.*200_*215del (n.*200_*215del) c.*1914_*1929del (n.*1914_*1929del) c.3533_3548del (p.Lys1178ThrfsTer7) c.*3363_*3378del (n.*3363_*3378del) c.3113_3128del (p.Lys1038ThrfsTer7) c.287_302del (p.Lys96ThrfsTer7) c.1326_1341del (n.1326_1341del) c.121_136del c.1167+22_1167+37del c.2321_2336del (p.Lys774ThrfsTer7) c.3449_3464del (p.Lys1150ThrfsTer7) c.364_379del c.3629_3644del (p.Lys1210ThrfsTer7) c.3296_3311del (p.Lys1099ThrfsTer7) | ClinVar |
| 7 | g.117627593A>C | CA368996318 | CFTR | c.3517+23A>C (n.3517+23A>C) c.*3254A>C (n.*3254A>C) c.3357A>C (p.Lys1119Asn) c.3540A>C (p.Lys1180Asn) c.*193A>C (n.*193A>C) c.*201A>C (n.*201A>C) c.*1915A>C (n.*1915A>C) c.3534A>C (p.Lys1178Asn) c.*3364A>C (n.*3364A>C) c.3114A>C (p.Lys1038Asn) c.288A>C (p.Lys96Asn) c.1327A>C (n.1327A>C) c.122A>C c.1167+23A>C c.2322A>C (p.Lys774Asn) c.3450A>C (p.Lys1150Asn) c.365A>C c.3630A>C (p.Lys1210Asn) c.3297A>C (p.Lys1099Asn) | |
| 7 | g.117627593A>G | CA457231205 | CFTR | c.3517+23A>G (n.3517+23A>G) c.*3254A>G (n.*3254A>G) c.3357A>G (p.Lys1119=) c.3540A>G (p.Lys1180=) c.*193A>G (n.*193A>G) c.*201A>G (n.*201A>G) c.*1915A>G (n.*1915A>G) c.3534A>G (p.Lys1178=) c.*3364A>G (n.*3364A>G) c.3114A>G (p.Lys1038=) c.288A>G (p.Lys96=) c.1327A>G (n.1327A>G) c.122A>G c.1167+23A>G c.2322A>G (p.Lys774=) c.3450A>G (p.Lys1150=) c.365A>G c.3630A>G (p.Lys1210=) c.3297A>G (p.Lys1099=) | |
| 7 | g.117627593A>T | CA368996319 | CFTR | c.3517+23A>T (n.3517+23A>T) c.*3254A>T (n.*3254A>T) c.3357A>T (p.Lys1119Asn) c.3540A>T (p.Lys1180Asn) c.*193A>T (n.*193A>T) c.*201A>T (n.*201A>T) c.*1915A>T (n.*1915A>T) c.3534A>T (p.Lys1178Asn) c.*3364A>T (n.*3364A>T) c.3114A>T (p.Lys1038Asn) c.288A>T (p.Lys96Asn) c.1327A>T (n.1327A>T) c.122A>T c.1167+23A>T c.2322A>T (p.Lys774Asn) c.3450A>T (p.Lys1150Asn) c.365A>T c.3630A>T (p.Lys1210Asn) c.3297A>T (p.Lys1099Asn) | |
| 7 | g.117627594C>A | CA368996324 | CFTR | c.3517+24C>A (n.3517+24C>A) c.*3255C>A (n.*3255C>A) c.3358C>A (p.Pro1120Thr) c.3541C>A (p.Pro1181Thr) c.*194C>A (n.*194C>A) c.*202C>A (n.*202C>A) c.*1916C>A (n.*1916C>A) c.3535C>A (p.Pro1179Thr) c.*3365C>A (n.*3365C>A) c.3115C>A (p.Pro1039Thr) c.289C>A (p.Pro97Thr) c.1328C>A (n.1328C>A) c.123C>A c.1167+24C>A c.2323C>A (p.Pro775Thr) c.3451C>A (p.Pro1151Thr) c.366C>A c.3631C>A (p.Pro1211Thr) c.3298C>A (p.Pro1100Thr) | |
| 7 | g.117627594C>G | CA368996326 | CFTR | c.3517+24C>G (n.3517+24C>G) c.*3255C>G (n.*3255C>G) c.3358C>G (p.Pro1120Ala) c.3541C>G (p.Pro1181Ala) c.*194C>G (n.*194C>G) c.*202C>G (n.*202C>G) c.*1916C>G (n.*1916C>G) c.3535C>G (p.Pro1179Ala) c.*3365C>G (n.*3365C>G) c.3115C>G (p.Pro1039Ala) c.289C>G (p.Pro97Ala) c.1328C>G (n.1328C>G) c.123C>G c.1167+24C>G c.2323C>G (p.Pro775Ala) c.3451C>G (p.Pro1151Ala) c.366C>G c.3631C>G (p.Pro1211Ala) c.3298C>G (p.Pro1100Ala) | |
| 7 | g.117627594C>T | CA368996322 | CFTR | c.3517+24C>T (n.3517+24C>T) c.*3255C>T (n.*3255C>T) c.3358C>T (p.Pro1120Ser) c.3541C>T (p.Pro1181Ser) c.*194C>T (n.*194C>T) c.*202C>T (n.*202C>T) c.*1916C>T (n.*1916C>T) c.3535C>T (p.Pro1179Ser) c.*3365C>T (n.*3365C>T) c.3115C>T (p.Pro1039Ser) c.289C>T (p.Pro97Ser) c.1328C>T (n.1328C>T) c.123C>T c.1167+24C>T c.2323C>T (p.Pro775Ser) c.3451C>T (p.Pro1151Ser) c.366C>T c.3631C>T (p.Pro1211Ser) c.3298C>T (p.Pro1100Ser) | |
| 7 | g.117627595C>A | CA4451495 | CFTR | c.3517+25C>A (n.3517+25C>A) c.*3256C>A (n.*3256C>A) c.3359C>A (p.Pro1120Gln) c.3542C>A (p.Pro1181Gln) c.*195C>A (n.*195C>A) c.*203C>A (n.*203C>A) c.*1917C>A (n.*1917C>A) c.3536C>A (p.Pro1179Gln) c.*3366C>A (n.*3366C>A) c.3116C>A (p.Pro1039Gln) c.290C>A (p.Pro97Gln) c.1329C>A (n.1329C>A) c.124C>A c.1167+25C>A c.2324C>A (p.Pro775Gln) c.3452C>A (p.Pro1151Gln) c.367C>A c.3632C>A (p.Pro1211Gln) c.3299C>A (p.Pro1100Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627595C= | CA1737398639 | CFTR | c.3517+25C= (n.3517+25C=) c.*3256C= (n.*3256C=) c.3359C= (p.Pro1120=) c.3542C= (p.Pro1181=) c.*195C= (n.*195C=) c.*203C= (n.*203C=) c.*1917C= (n.*1917C=) c.3536C= (p.Pro1179=) c.*3366C= (n.*3366C=) c.3116C= (p.Pro1039=) c.290C= (p.Pro97=) c.1329C= (n.1329C=) c.124C= c.1167+25C= c.2324C= (p.Pro775=) c.3452C= (p.Pro1151=) c.367C= c.3632C= (p.Pro1211=) c.3299C= (p.Pro1100=) | |
| 7 | g.117627595C>G | CA368996329 | CFTR | c.3517+25C>G (n.3517+25C>G) c.*3256C>G (n.*3256C>G) c.3359C>G (p.Pro1120Arg) c.3542C>G (p.Pro1181Arg) c.*195C>G (n.*195C>G) c.*203C>G (n.*203C>G) c.*1917C>G (n.*1917C>G) c.3536C>G (p.Pro1179Arg) c.*3366C>G (n.*3366C>G) c.3116C>G (p.Pro1039Arg) c.290C>G (p.Pro97Arg) c.1329C>G (n.1329C>G) c.124C>G c.1167+25C>G c.2324C>G (p.Pro775Arg) c.3452C>G (p.Pro1151Arg) c.367C>G c.3632C>G (p.Pro1211Arg) c.3299C>G (p.Pro1100Arg) | gnomAD v4 |
| 7 | g.117627595C>T | CA368996331 | CFTR | c.3517+25C>T (n.3517+25C>T) c.*3256C>T (n.*3256C>T) c.3359C>T (p.Pro1120Leu) c.3542C>T (p.Pro1181Leu) c.*195C>T (n.*195C>T) c.*203C>T (n.*203C>T) c.*1917C>T (n.*1917C>T) c.3536C>T (p.Pro1179Leu) c.*3366C>T (n.*3366C>T) c.3116C>T (p.Pro1039Leu) c.290C>T (p.Pro97Leu) c.1329C>T (n.1329C>T) c.124C>T c.1167+25C>T c.2324C>T (p.Pro775Leu) c.3452C>T (p.Pro1151Leu) c.367C>T c.3632C>T (p.Pro1211Leu) c.3299C>T (p.Pro1100Leu) | gnomAD v4 |
| 7 | g.117627595_117627596insGTACATTTTATTATAATATACCGGTT | CA2684620079 | CFTR | c.3517+25_3517+26insGTACATTTTATTATAATATACCGGTT (n.3517+25_3517+26insGTACATTTTATTATAATATACCGGTT) c.*3256_*3257insGTACATTTTATTATAATATACCGGTT (n.*3256_*3257insGTACATTTTATTATAATATACCGGTT) c.3359_3360insGTACATTTTATTATAATATACCGGTT (p.Lys1122IlefsTer4) c.3542_3543insGTACATTTTATTATAATATACCGGTT (p.Lys1183IlefsTer4) c.*195_*196insGTACATTTTATTATAATATACCGGTT (n.*195_*196insGTACATTTTATTATAATATACCGGTT) c.*203_*204insGTACATTTTATTATAATATACCGGTT (n.*203_*204insGTACATTTTATTATAATATACCGGTT) c.*1917_*1918insGTACATTTTATTATAATATACCGGTT (n.*1917_*1918insGTACATTTTATTATAATATACCGGTT) c.3536_3537insGTACATTTTATTATAATATACCGGTT (p.Lys1181IlefsTer4) c.*3366_*3367insGTACATTTTATTATAATATACCGGTT (n.*3366_*3367insGTACATTTTATTATAATATACCGGTT) c.3116_3117insGTACATTTTATTATAATATACCGGTT (p.Lys1041IlefsTer4) c.290_291insGTACATTTTATTATAATATACCGGTT (p.Lys99IlefsTer4) c.1329_1330insGTACATTTTATTATAATATACCGGTT (n.1329_1330insGTACATTTTATTATAATATACCGGTT) c.124_125insGTACATTTTATTATAATATACCGGTT c.1167+25_1167+26insGTACATTTTATTATAATATACCGGTT c.2324_2325insGTACATTTTATTATAATATACCGGTT (p.Lys777IlefsTer4) c.3452_3453insGTACATTTTATTATAATATACCGGTT (p.Lys1153IlefsTer4) c.367_368insGTACATTTTATTATAATATACCGGTT c.3632_3633insGTACATTTTATTATAATATACCGGTT (p.Lys1213IlefsTer4) c.3299_3300insGTACATTTTATTATAATATACCGGTT (p.Lys1102IlefsTer4) | gnomAD v4 |
| 7 | g.117627596A= | CA1737398640 | CFTR | c.3517+26A= (n.3517+26A=) c.*3257A= (n.*3257A=) c.3360A= (p.Pro1120=) c.3543A= (p.Pro1181=) c.*196A= (n.*196A=) c.*204A= (n.*204A=) c.*1918A= (n.*1918A=) c.3537A= (p.Pro1179=) c.*3367A= (n.*3367A=) c.3117A= (p.Pro1039=) c.291A= (p.Pro97=) c.1330A= (n.1330A=) c.125A= c.1167+26A= c.2325A= (p.Pro775=) c.3453A= (p.Pro1151=) c.368A= c.3633A= (p.Pro1211=) c.3300A= (p.Pro1100=) |