| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535281_117538553del | CA2580076362 | CFTR | c.613_870-1547del c.*510_*767-1547del c.*437_*694-1547del c.370_627-1547del c.523_780-1547del c.703_960-1547del | ClinVar |
| 7 | g.117536557_117536558del | CA2695208304 | CFTR | c.753_754del (p.Arg251SerfsTer6) c.*650_*651del (n.*650_*651del) c.*577_*578del (n.*577_*578del) c.510_511del (p.Arg170SerfsTer6) c.663_664del (p.Arg221SerfsTer6) c.843_844del (p.Arg281SerfsTer6) | |
| 7 | g.117536555A= | CA1737326978 | CFTR | c.751A= (p.Arg251=) c.*648A= (n.*648A=) c.*575A= (n.*575A=) c.508A= (p.Arg170=) c.661A= (p.Arg221=) c.841A= (p.Arg281=) | |
| 7 | g.117536555A>C | CA457227323 | CFTR | c.751A>C (p.Arg251=) c.*648A>C (n.*648A>C) c.*575A>C (n.*575A>C) c.508A>C (p.Arg170=) c.661A>C (p.Arg221=) c.841A>C (p.Arg281=) | |
| 7 | g.117536555A>G | CA368977331 | CFTR | c.751A>G (p.Arg251Gly) c.*648A>G (n.*648A>G) c.*575A>G (n.*575A>G) c.508A>G (p.Arg170Gly) c.661A>G (p.Arg221Gly) c.841A>G (p.Arg281Gly) | |
| 7 | g.117536555A>T | CA368977332 | CFTR | c.751A>T (p.Arg251Ter) c.*648A>T (n.*648A>T) c.*575A>T (n.*575A>T) c.508A>T (p.Arg170Ter) c.661A>T (p.Arg221Ter) c.841A>T (p.Arg281Ter) | ClinVar dbSNP |
| 7 | g.117536556G>A | CA368977333 | CFTR | c.752G>A (p.Arg251Lys) c.*649G>A (n.*649G>A) c.*576G>A (n.*576G>A) c.509G>A (p.Arg170Lys) c.662G>A (p.Arg221Lys) c.842G>A (p.Arg281Lys) | COSMIC |
| 7 | g.117536556G>C | CA368977334 | CFTR | c.752G>C (p.Arg251Thr) c.*649G>C (n.*649G>C) c.*576G>C (n.*576G>C) c.509G>C (p.Arg170Thr) c.662G>C (p.Arg221Thr) c.842G>C (p.Arg281Thr) | |
| 7 | g.117536556G>T | CA368977335 | CFTR | c.752G>T (p.Arg251Ile) c.*649G>T (n.*649G>T) c.*576G>T (n.*576G>T) c.509G>T (p.Arg170Ile) c.662G>T (p.Arg221Ile) c.842G>T (p.Arg281Ile) | gnomAD v4 |
| 7 | g.117536557A= | CA1737326982 | CFTR | c.753A= (p.Arg251=) c.*650A= (n.*650A=) c.*577A= (n.*577A=) c.510A= (p.Arg170=) c.663A= (p.Arg221=) c.843A= (p.Arg281=) | |
| 7 | g.117536557A>C | CA368977337 | CFTR | c.753A>C (p.Arg251Ser) c.*650A>C (n.*650A>C) c.*577A>C (n.*577A>C) c.510A>C (p.Arg170Ser) c.663A>C (p.Arg221Ser) c.843A>C (p.Arg281Ser) | |
| 7 | g.117536557A>G | CA457227324 | CFTR | c.753A>G (p.Arg251=) c.*650A>G (n.*650A>G) c.*577A>G (n.*577A>G) c.510A>G (p.Arg170=) c.663A>G (p.Arg221=) c.843A>G (p.Arg281=) | dbSNP gnomAD v4 |
| 7 | g.117536557A>T | CA368977336 | CFTR | c.753A>T (p.Arg251Ser) c.*650A>T (n.*650A>T) c.*577A>T (n.*577A>T) c.510A>T (p.Arg170Ser) c.663A>T (p.Arg221Ser) c.843A>T (p.Arg281Ser) | |
| 7 | g.117536558G>A | CA368977338 | CFTR | c.754G>A (p.Ala252Thr) c.*651G>A (n.*651G>A) c.*578G>A (n.*578G>A) c.511G>A (p.Ala171Thr) c.664G>A (p.Ala222Thr) c.844G>A (p.Ala282Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536558G>C | CA4450827 | CFTR | c.754G>C (p.Ala252Pro) c.*651G>C (n.*651G>C) c.*578G>C (n.*578G>C) c.511G>C (p.Ala171Pro) c.664G>C (p.Ala222Pro) c.844G>C (p.Ala282Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536558G= | CA1737326985 | CFTR | c.754G= (p.Ala252=) c.*651G= (n.*651G=) c.*578G= (n.*578G=) c.511G= (p.Ala171=) c.664G= (p.Ala222=) c.844G= (p.Ala282=) | |
| 7 | g.117536558G>T | CA368977339 | CFTR | c.754G>T (p.Ala252Ser) c.*651G>T (n.*651G>T) c.*578G>T (n.*578G>T) c.511G>T (p.Ala171Ser) c.664G>T (p.Ala222Ser) c.844G>T (p.Ala282Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536558_117536559delinsGC | CA1737326992 | CFTR | c.754_755delinsGC (p.Ala252=) c.*651_*652delinsGC (n.*651_*652delinsGC) c.*578_*579delinsGC (n.*578_*579delinsGC) c.511_512delinsGC (p.Ala171=) c.664_665delinsGC (p.Ala222=) c.844_845delinsGC (p.Ala282=) | |
| 7 | g.117536559C>A | CA368977340 | CFTR | c.755C>A (p.Ala252Asp) c.*652C>A (n.*652C>A) c.*579C>A (n.*579C>A) c.512C>A (p.Ala171Asp) c.665C>A (p.Ala222Asp) c.845C>A (p.Ala282Asp) | gnomAD v4 |
| 7 | g.117536559C= | CA1737326995 | CFTR | c.755C= (p.Ala252=) c.*652C= (n.*652C=) c.*579C= (n.*579C=) c.512C= (p.Ala171=) c.665C= (p.Ala222=) c.845C= (p.Ala282=) | |
| 7 | g.117536559C>G | CA368977341 | CFTR | c.755C>G (p.Ala252Gly) c.*652C>G (n.*652C>G) c.*579C>G (n.*579C>G) c.512C>G (p.Ala171Gly) c.665C>G (p.Ala222Gly) c.845C>G (p.Ala282Gly) | |
| 7 | g.117536559C>T | CA164946468 | CFTR | c.755C>T (p.Ala252Val) c.*652C>T (n.*652C>T) c.*579C>T (n.*579C>T) c.512C>T (p.Ala171Val) c.665C>T (p.Ala222Val) c.845C>T (p.Ala282Val) | dbSNP |
| 7 | g.117536559delinsGCTGGGAAGAT | CA915945464 | CFTR | c.755delinsGCTGGGAAGAT (p.Ala252GlyfsTer9) c.*652delinsGCTGGGAAGAT (n.*652delinsGCTGGGAAGAT) c.*579delinsGCTGGGAAGAT (n.*579delinsGCTGGGAAGAT) c.512delinsGCTGGGAAGAT (p.Ala171GlyfsTer9) c.665delinsGCTGGGAAGAT (p.Ala222GlyfsTer9) c.845delinsGCTGGGAAGAT (p.Ala282GlyfsTer9) | ClinVar dbSNP |
| 7 | g.117536560T>A | CA457227325 | CFTR | c.756T>A (p.Ala252=) c.*653T>A (n.*653T>A) c.*580T>A (n.*580T>A) c.513T>A (p.Ala171=) c.666T>A (p.Ala222=) c.846T>A (p.Ala282=) | gnomAD v4 |
| 7 | g.117536560T>C | CA457227326 | CFTR | c.756T>C (p.Ala252=) c.*653T>C (n.*653T>C) c.*580T>C (n.*580T>C) c.513T>C (p.Ala171=) c.666T>C (p.Ala222=) c.846T>C (p.Ala282=) | ClinVar gnomAD v4 |
| 7 | g.117536560T>G | CA457227327 | CFTR | c.756T>G (p.Ala252=) c.*653T>G (n.*653T>G) c.*580T>G (n.*580T>G) c.513T>G (p.Ala171=) c.666T>G (p.Ala222=) c.846T>G (p.Ala282=) | |
| 7 | g.117536561G>A | CA368977342 | CFTR | c.757G>A (p.Gly253Arg) c.*654G>A (n.*654G>A) c.*581G>A (n.*581G>A) c.514G>A (p.Gly172Arg) c.667G>A (p.Gly223Arg) c.847G>A (p.Gly283Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536561G>C | CA368977343 | CFTR | c.757G>C (p.Gly253Arg) c.*654G>C (n.*654G>C) c.*581G>C (n.*581G>C) c.514G>C (p.Gly172Arg) c.667G>C (p.Gly223Arg) c.847G>C (p.Gly283Arg) | |
| 7 | g.117536561G= | CA1737326996 | CFTR | c.757G= (p.Gly253=) c.*654G= (n.*654G=) c.*581G= (n.*581G=) c.514G= (p.Gly172=) c.667G= (p.Gly223=) c.847G= (p.Gly283=) | |
| 7 | g.117536561G>T | CA368977344 | CFTR | c.757G>T (p.Gly253Trp) c.*654G>T (n.*654G>T) c.*581G>T (n.*581G>T) c.514G>T (p.Gly172Trp) c.667G>T (p.Gly223Trp) c.847G>T (p.Gly283Trp) | |
| 7 | g.117536562G>A | CA368977345 | CFTR | c.758G>A (p.Gly253Glu) c.*655G>A (n.*655G>A) c.*582G>A (n.*582G>A) c.515G>A (p.Gly172Glu) c.668G>A (p.Gly223Glu) c.848G>A (p.Gly283Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536562G>C | CA368977346 | CFTR | c.758G>C (p.Gly253Ala) c.*655G>C (n.*655G>C) c.*582G>C (n.*582G>C) c.515G>C (p.Gly172Ala) c.668G>C (p.Gly223Ala) c.848G>C (p.Gly283Ala) | |
| 7 | g.117536562G= | CA1737326997 | CFTR | c.758G= (p.Gly253=) c.*655G= (n.*655G=) c.*582G= (n.*582G=) c.515G= (p.Gly172=) c.668G= (p.Gly223=) c.848G= (p.Gly283=) | |
| 7 | g.117536562G>T | CA368977347 | CFTR | c.758G>T (p.Gly253Val) c.*655G>T (n.*655G>T) c.*582G>T (n.*582G>T) c.515G>T (p.Gly172Val) c.668G>T (p.Gly223Val) c.848G>T (p.Gly283Val) | gnomAD v4 |
| 7 | g.117536563G>A | CA164946480 | CFTR | c.759G>A (p.Gly253=) c.*656G>A (n.*656G>A) c.*583G>A (n.*583G>A) c.516G>A (p.Gly172=) c.669G>A (p.Gly223=) c.849G>A (p.Gly283=) | dbSNP gnomAD v2 |
| 7 | g.117536563G>C | CA457227329 | CFTR | c.759G>C (p.Gly253=) c.*656G>C (n.*656G>C) c.*583G>C (n.*583G>C) c.516G>C (p.Gly172=) c.669G>C (p.Gly223=) c.849G>C (p.Gly283=) | |
| 7 | g.117536563G= | CA1737326999 | CFTR | c.759G= (p.Gly253=) c.*656G= (n.*656G=) c.*583G= (n.*583G=) c.516G= (p.Gly172=) c.669G= (p.Gly223=) c.849G= (p.Gly283=) | |
| 7 | g.117536563G>T | CA457227328 | CFTR | c.759G>T (p.Gly253=) c.*656G>T (n.*656G>T) c.*583G>T (n.*583G>T) c.516G>T (p.Gly172=) c.669G>T (p.Gly223=) c.849G>T (p.Gly283=) | gnomAD v4 |
| 7 | g.117536564A>C | CA368977350 | CFTR | c.760A>C (p.Lys254Gln) c.*657A>C (n.*657A>C) c.*584A>C (n.*584A>C) c.517A>C (p.Lys173Gln) c.670A>C (p.Lys224Gln) c.850A>C (p.Lys284Gln) | |
| 7 | g.117536564A>G | CA368977349 | CFTR | c.760A>G (p.Lys254Glu) c.*657A>G (n.*657A>G) c.*584A>G (n.*584A>G) c.517A>G (p.Lys173Glu) c.670A>G (p.Lys224Glu) c.850A>G (p.Lys284Glu) | |
| 7 | g.117536564A>T | CA368977348 | CFTR | c.760A>T (p.Lys254Ter) c.*657A>T (n.*657A>T) c.*584A>T (n.*584A>T) c.517A>T (p.Lys173Ter) c.670A>T (p.Lys224Ter) c.850A>T (p.Lys284Ter) | |
| 7 | g.117536565del | CA2573052801 | CFTR | c.761del (p.Lys254ArgfsTer7) c.*658del (n.*658del) c.*585del (n.*585del) c.518del (p.Lys173ArgfsTer7) c.671del (p.Lys224ArgfsTer7) c.851del (p.Lys284ArgfsTer7) | ClinVar dbSNP |
| 7 | g.117536565A>C | CA368977351 | CFTR | c.761A>C (p.Lys254Thr) c.*658A>C (n.*658A>C) c.*585A>C (n.*585A>C) c.518A>C (p.Lys173Thr) c.671A>C (p.Lys224Thr) c.851A>C (p.Lys284Thr) | |
| 7 | g.117536565A>G | CA368977352 | CFTR | c.761A>G (p.Lys254Arg) c.*658A>G (n.*658A>G) c.*585A>G (n.*585A>G) c.518A>G (p.Lys173Arg) c.671A>G (p.Lys224Arg) c.851A>G (p.Lys284Arg) | gnomAD v4 |
| 7 | g.117536565A>T | CA368977353 | CFTR | c.761A>T (p.Lys254Met) c.*658A>T (n.*658A>T) c.*585A>T (n.*585A>T) c.518A>T (p.Lys173Met) c.671A>T (p.Lys224Met) c.851A>T (p.Lys284Met) | |
| 7 | g.117536566G>A | CA457227330 | CFTR | c.762G>A (p.Lys254=) c.*659G>A (n.*659G>A) c.*586G>A (n.*586G>A) c.519G>A (p.Lys173=) c.672G>A (p.Lys224=) c.852G>A (p.Lys284=) | |
| 7 | g.117536566G>C | CA368977354 | CFTR | c.762G>C (p.Lys254Asn) c.*659G>C (n.*659G>C) c.*586G>C (n.*586G>C) c.519G>C (p.Lys173Asn) c.672G>C (p.Lys224Asn) c.852G>C (p.Lys284Asn) | |
| 7 | g.117536566G>T | CA368977355 | CFTR | c.762G>T (p.Lys254Asn) c.*659G>T (n.*659G>T) c.*586G>T (n.*586G>T) c.519G>T (p.Lys173Asn) c.672G>T (p.Lys224Asn) c.852G>T (p.Lys284Asn) | gnomAD v4 |
| 7 | g.117536567A= | CA1737327002 | CFTR | c.763A= (p.Ile255=) c.*660A= (n.*660A=) c.*587A= (n.*587A=) c.520A= (p.Ile174=) c.673A= (p.Ile225=) c.853A= (p.Ile285=) | |
| 7 | g.117536567A>C | CA368977356 | CFTR | c.763A>C (p.Ile255Leu) c.*660A>C (n.*660A>C) c.*587A>C (n.*587A>C) c.520A>C (p.Ile174Leu) c.673A>C (p.Ile225Leu) c.853A>C (p.Ile285Leu) |