| 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.117536651_117536664delinsAAAATGATTGAAAA | CA1737327382 | CFTR | c.847_860delinsAAAATGATTGAAAA (p.Lys283=) c.*744_*757delinsAAAATGATTGAAAA (n.*744_*757delinsAAAATGATTGAAAA) c.*671_*684delinsAAAATGATTGAAAA (n.*671_*684delinsAAAATGATTGAAAA) c.604_617delinsAAAATGATTGAAAA (p.Lys202=) c.757_770delinsAAAATGATTGAAAA (p.Lys253=) c.937_950delinsAAAATGATTGAAAA (p.Lys313=) | |
| 7 | g.117536652_117536664delinsTG | CA275389 | CFTR | c.848_860delinsTG (p.Lys283MetfsTer21) c.*745_*757delinsTG (n.*745_*757delinsTG) c.*672_*684delinsTG (n.*672_*684delinsTG) c.605_617delinsTG (p.Lys202MetfsTer21) c.758_770delinsTG (p.Lys253MetfsTer21) c.938_950delinsTG (p.Lys313MetfsTer21) | ClinVar dbSNP |
| 7 | g.117536664dup | CA325615 | CFTR | c.860dup (p.Asn287LysfsTer21) c.*757dup (n.*757dup) c.*684dup (n.*684dup) c.617dup (p.Asn206LysfsTer21) c.770dup (p.Asn257LysfsTer21) c.950dup (p.Asn317LysfsTer21) | ClinVar dbSNP |
| 7 | g.117536664del | CA2695208306 | CFTR | c.860del (p.Asn287ThrfsTer2) c.*757del (n.*757del) c.*684del (n.*684del) c.617del (p.Asn206ThrfsTer2) c.770del (p.Asn257ThrfsTer2) c.950del (p.Asn317ThrfsTer2) | |
| 7 | g.117536662_117536667delinsAAACTT | CA1737327429 | CFTR | c.858_863delinsAAACTT (p.Glu286=) c.*755_*760delinsAAACTT (n.*755_*760delinsAAACTT) c.*682_*687delinsAAACTT (n.*682_*687delinsAAACTT) c.615_620delinsAAACTT (p.Glu205=) c.768_773delinsAAACTT (p.Glu256=) c.948_953delinsAAACTT (p.Glu316=) | |
| 7 | g.117536663A= | CA1737327439 | CFTR | c.859A= (p.Asn287=) c.*756A= (n.*756A=) c.*683A= (n.*683A=) c.616A= (p.Asn206=) c.769A= (p.Asn257=) c.949A= (p.Asn317=) | |
| 7 | g.117536663A>C | CA368977571 | CFTR | c.859A>C (p.Asn287His) c.*756A>C (n.*756A>C) c.*683A>C (n.*683A>C) c.616A>C (p.Asn206His) c.769A>C (p.Asn257His) c.949A>C (p.Asn317His) | COSMIC |
| 7 | g.117536663A>G | CA368977570 | CFTR | c.859A>G (p.Asn287Asp) c.*756A>G (n.*756A>G) c.*683A>G (n.*683A>G) c.616A>G (p.Asn206Asp) c.769A>G (p.Asn257Asp) c.949A>G (p.Asn317Asp) | |
| 7 | g.117536663A>T | CA327669 | CFTR | c.859A>T (p.Asn287Tyr) c.*756A>T (n.*756A>T) c.*683A>T (n.*683A>T) c.616A>T (p.Asn206Tyr) c.769A>T (p.Asn257Tyr) c.949A>T (p.Asn317Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536665_117536669del | CA327672 | CFTR | c.861_865del (p.Asn287LysfsTer19) c.*758_*762del (n.*758_*762del) c.*685_*689del (n.*685_*689del) c.618_622del (p.Asn206LysfsTer19) c.771_775del (p.Asn257LysfsTer19) c.951_955del (p.Asn317LysfsTer19) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536664A= | CA1737327453 | CFTR | c.860A= (p.Asn287=) c.*757A= (n.*757A=) c.*684A= (n.*684A=) c.617A= (p.Asn206=) c.770A= (p.Asn257=) c.950A= (p.Asn317=) | |
| 7 | g.117536664A>C | CA368977572 | CFTR | c.860A>C (p.Asn287Thr) c.*757A>C (n.*757A>C) c.*684A>C (n.*684A>C) c.617A>C (p.Asn206Thr) c.770A>C (p.Asn257Thr) c.950A>C (p.Asn317Thr) | |
| 7 | g.117536664A>G | CA4450844 | CFTR | c.860A>G (p.Asn287Ser) c.*757A>G (n.*757A>G) c.*684A>G (n.*684A>G) c.617A>G (p.Asn206Ser) c.770A>G (p.Asn257Ser) c.950A>G (p.Asn317Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536664A>T | CA368977573 | CFTR | c.860A>T (p.Asn287Ile) c.*757A>T (n.*757A>T) c.*684A>T (n.*684A>T) c.617A>T (p.Asn206Ile) c.770A>T (p.Asn257Ile) c.950A>T (p.Asn317Ile) | |
| 7 | g.117536665C>A | CA368977574 | CFTR | c.861C>A (p.Asn287Lys) c.*758C>A (n.*758C>A) c.*685C>A (n.*685C>A) c.618C>A (p.Asn206Lys) c.771C>A (p.Asn257Lys) c.951C>A (p.Asn317Lys) | |
| 7 | g.117536665C= | CA1737327461 | CFTR | c.861C= (p.Asn287=) c.*758C= (n.*758C=) c.*685C= (n.*685C=) c.618C= (p.Asn206=) c.771C= (p.Asn257=) c.951C= (p.Asn317=) | |
| 7 | g.117536665C>G | CA327670 | CFTR | c.861C>G (p.Asn287Lys) c.*758C>G (n.*758C>G) c.*685C>G (n.*685C>G) c.618C>G (p.Asn206Lys) c.771C>G (p.Asn257Lys) c.951C>G (p.Asn317Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536665C>T | CA457227454 | CFTR | c.861C>T (p.Asn287=) c.*758C>T (n.*758C>T) c.*685C>T (n.*685C>T) c.618C>T (p.Asn206=) c.771C>T (p.Asn257=) c.951C>T (p.Asn317=) | |
| 7 | g.117536665_117536674delinsCTTAAGACAG | CA1737327467 | CFTR | c.861_869+1delinsCTTAAGACAG c.*758_*766+1delinsCTTAAGACAG c.*685_*693+1delinsCTTAAGACAG c.618_626+1delinsCTTAAGACAG c.771_779+1delinsCTTAAGACAG c.951_959+1delinsCTTAAGACAG | |
| 7 | g.117536666T>A | CA368977575 | CFTR | c.862T>A (p.Leu288Ile) c.*759T>A (n.*759T>A) c.*686T>A (n.*686T>A) c.619T>A (p.Leu207Ile) c.772T>A (p.Leu258Ile) c.952T>A (p.Leu318Ile) | |
| 7 | g.117536666T>C | CA457227457 | CFTR | c.862T>C (p.Leu288=) c.*759T>C (n.*759T>C) c.*686T>C (n.*686T>C) c.619T>C (p.Leu207=) c.772T>C (p.Leu258=) c.952T>C (p.Leu318=) | dbSNP |
| 7 | g.117536666T>G | CA368977576 | CFTR | c.862T>G (p.Leu288Val) c.*759T>G (n.*759T>G) c.*686T>G (n.*686T>G) c.619T>G (p.Leu207Val) c.772T>G (p.Leu258Val) c.952T>G (p.Leu318Val) | |
| 7 | g.117536667_117536675del | CA327673 | CFTR | c.863_869+2del c.*760_*766+2del c.*687_*693+2del c.620_626+2del c.773_779+2del c.953_959+2del | dbSNP |
| 7 | g.117536667T>A | CA368977577 | CFTR | c.863T>A (p.Leu288Ter) c.*760T>A (n.*760T>A) c.*687T>A (n.*687T>A) c.620T>A (p.Leu207Ter) c.773T>A (p.Leu258Ter) c.953T>A (p.Leu318Ter) | gnomAD v4 |
| 7 | g.117536667T>C | CA368977578 | CFTR | c.863T>C (p.Leu288Ser) c.*760T>C (n.*760T>C) c.*687T>C (n.*687T>C) c.620T>C (p.Leu207Ser) c.773T>C (p.Leu258Ser) c.953T>C (p.Leu318Ser) | |
| 7 | g.117536667T>G | CA368977579 | CFTR | c.863T>G (p.Leu288Ter) c.*760T>G (n.*760T>G) c.*687T>G (n.*687T>G) c.620T>G (p.Leu207Ter) c.773T>G (p.Leu258Ter) c.953T>G (p.Leu318Ter) | ClinVar dbSNP |
| 7 | g.117536667T= | CA1737327477 | CFTR | c.863T= (p.Leu288=) c.*760T= (n.*760T=) c.*687T= (n.*687T=) c.620T= (p.Leu207=) c.773T= (p.Leu258=) c.953T= (p.Leu318=) | |
| 7 | g.117536667_117536672delinsTAAGAC | CA1737327476 | CFTR | c.863_868delinsTAAGAC (p.Leu288=) c.*760_*765delinsTAAGAC (n.*760_*765delinsTAAGAC) c.*687_*692delinsTAAGAC (n.*687_*692delinsTAAGAC) c.620_625delinsTAAGAC (p.Leu207=) c.773_778delinsTAAGAC (p.Leu258=) c.953_958delinsTAAGAC (p.Leu318=) | |
| 7 | g.117536668A>C | CA368977580 | CFTR | c.864A>C (p.Leu288Phe) c.*761A>C (n.*761A>C) c.*688A>C (n.*688A>C) c.621A>C (p.Leu207Phe) c.774A>C (p.Leu258Phe) c.954A>C (p.Leu318Phe) | |
| 7 | g.117536668A>G | CA457227462 | CFTR | c.864A>G (p.Leu288=) c.*761A>G (n.*761A>G) c.*688A>G (n.*688A>G) c.621A>G (p.Leu207=) c.774A>G (p.Leu258=) c.954A>G (p.Leu318=) | |
| 7 | g.117536668A>T | CA368977581 | CFTR | c.864A>T (p.Leu288Phe) c.*761A>T (n.*761A>T) c.*688A>T (n.*688A>T) c.621A>T (p.Leu207Phe) c.774A>T (p.Leu258Phe) c.954A>T (p.Leu318Phe) | |
| 7 | g.117536669_117536673del | CA913189991 | CFTR | c.865_869del (p.Arg289AsnfsTer17) c.*762_*766del (n.*762_*766del) c.*689_*693del (n.*689_*693del) c.622_626del (p.Arg208AsnfsTer17) c.775_779del (p.Arg259AsnfsTer17) c.955_959del (p.Arg319AsnfsTer17) | ClinVar dbSNP |
| 7 | g.117536669A= | CA1737327485 | CFTR | c.865A= (p.Arg289=) c.*762A= (n.*762A=) c.*689A= (n.*689A=) c.622A= (p.Arg208=) c.775A= (p.Arg259=) c.955A= (p.Arg319=) | |
| 7 | g.117536669A>C | CA457227463 | CFTR | c.865A>C (p.Arg289=) c.*762A>C (n.*762A>C) c.*689A>C (n.*689A>C) c.622A>C (p.Arg208=) c.775A>C (p.Arg259=) c.955A>C (p.Arg319=) | |
| 7 | g.117536669A>G | CA368977582 | CFTR | c.865A>G (p.Arg289Gly) c.*762A>G (n.*762A>G) c.*689A>G (n.*689A>G) c.622A>G (p.Arg208Gly) c.775A>G (p.Arg259Gly) c.955A>G (p.Arg319Gly) | ClinVar gnomAD v4 |
| 7 | g.117536669A>T | CA16041127 | CFTR | c.865A>T (p.Arg289Ter) c.*762A>T (n.*762A>T) c.*689A>T (n.*689A>T) c.622A>T (p.Arg208Ter) c.775A>T (p.Arg259Ter) c.955A>T (p.Arg319Ter) | ClinVar dbSNP |
| 7 | g.117536670_117540100del | CA916084100 | CFTR | c.866_870del c.*763_*767del c.*690_*694del c.623_627del c.776_780del c.956_960del | |
| 7 | g.117536670G>A | CA368977583 | CFTR | c.866G>A (p.Arg289Lys) c.*763G>A (n.*763G>A) c.*690G>A (n.*690G>A) c.623G>A (p.Arg208Lys) c.776G>A (p.Arg259Lys) c.956G>A (p.Arg319Lys) | |
| 7 | g.117536670G>C | CA368977585 | CFTR | c.866G>C (p.Arg289Thr) c.*763G>C (n.*763G>C) c.*690G>C (n.*690G>C) c.623G>C (p.Arg208Thr) c.776G>C (p.Arg259Thr) c.956G>C (p.Arg319Thr) | |
| 7 | g.117536670G>T | CA368977584 | CFTR | c.866G>T (p.Arg289Ile) c.*763G>T (n.*763G>T) c.*690G>T (n.*690G>T) c.623G>T (p.Arg208Ile) c.776G>T (p.Arg259Ile) c.956G>T (p.Arg319Ile) | gnomAD v4 |
| 7 | g.117536671A= | CA1737327495 | CFTR | c.867A= (p.Arg289=) c.*764A= (n.*764A=) c.*691A= (n.*691A=) c.624A= (p.Arg208=) c.777A= (p.Arg259=) c.957A= (p.Arg319=) | |
| 7 | g.117536671A>C | CA368977586 | CFTR | c.867A>C (p.Arg289Ser) c.*764A>C (n.*764A>C) c.*691A>C (n.*691A>C) c.624A>C (p.Arg208Ser) c.777A>C (p.Arg259Ser) c.957A>C (p.Arg319Ser) | |
| 7 | g.117536671A>G | CA457227466 | CFTR | c.867A>G (p.Arg289=) c.*764A>G (n.*764A>G) c.*691A>G (n.*691A>G) c.624A>G (p.Arg208=) c.777A>G (p.Arg259=) c.957A>G (p.Arg319=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536671A>T | CA368977587 | CFTR | c.867A>T (p.Arg289Ser) c.*764A>T (n.*764A>T) c.*691A>T (n.*691A>T) c.624A>T (p.Arg208Ser) c.777A>T (p.Arg259Ser) c.957A>T (p.Arg319Ser) | |
| 7 | g.117536672C>A | CA368977588 | CFTR | c.868C>A (p.Gln290Lys) c.*765C>A (n.*765C>A) c.*692C>A (n.*692C>A) c.625C>A (p.Gln209Lys) c.778C>A (p.Gln260Lys) c.958C>A (p.Gln320Lys) | gnomAD v4 |
| 7 | g.117536672C= | CA1737327501 | CFTR | c.868C= (p.Gln290=) c.*765C= (n.*765C=) c.*692C= (n.*692C=) c.625C= (p.Gln209=) c.778C= (p.Gln260=) c.958C= (p.Gln320=) | |
| 7 | g.117536672C>G | CA368977589 | CFTR | c.868C>G (p.Gln290Glu) c.*765C>G (n.*765C>G) c.*692C>G (n.*692C>G) c.625C>G (p.Gln209Glu) c.778C>G (p.Gln260Glu) c.958C>G (p.Gln320Glu) | ClinVar |
| 7 | g.117536672C>T | CA327674 | CFTR | c.868C>T (p.Gln290Ter) c.*765C>T (n.*765C>T) c.*692C>T (n.*692C>T) c.625C>T (p.Gln209Ter) c.778C>T (p.Gln260Ter) c.958C>T (p.Gln320Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536673A= | CA1737327507 | CFTR | c.869A= (p.Gln290=) c.*766A= (n.*766A=) c.*693A= (n.*693A=) c.626A= (p.Gln209=) c.779A= (p.Gln260=) c.959A= (p.Gln320=) |