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.117536655T>A | CA368977551 | CFTR | c.851T>A (p.Met284Lys) c.*748T>A (n.*748T>A) c.*675T>A (n.*675T>A) c.608T>A (p.Met203Lys) c.761T>A (p.Met254Lys) c.941T>A (p.Met314Lys) | |
7 | g.117536655T>C | CA368977552 | CFTR | c.851T>C (p.Met284Thr) c.*748T>C (n.*748T>C) c.*675T>C (n.*675T>C) c.608T>C (p.Met203Thr) c.761T>C (p.Met254Thr) c.941T>C (p.Met314Thr) | ClinVar dbSNP |
7 | g.117536655T>G | CA368977553 | CFTR | c.851T>G (p.Met284Arg) c.*748T>G (n.*748T>G) c.*675T>G (n.*675T>G) c.608T>G (p.Met203Arg) c.761T>G (p.Met254Arg) c.941T>G (p.Met314Arg) | gnomAD v4 |
7 | g.117536658_117536661del | CA2684617824 | CFTR | c.854_857del (p.Ile285LysfsTer3) c.*751_*754del (n.*751_*754del) c.*678_*681del (n.*678_*681del) c.611_614del (p.Ile204LysfsTer3) c.764_767del (p.Ile255LysfsTer3) c.944_947del (p.Ile315LysfsTer3) | gnomAD v4 |
7 | g.117536656G>A | CA368977554 | CFTR | c.852G>A (p.Met284Ile) c.*749G>A (n.*749G>A) c.*676G>A (n.*676G>A) c.609G>A (p.Met203Ile) c.762G>A (p.Met254Ile) c.942G>A (p.Met314Ile) | gnomAD v4 |
7 | g.117536656G>C | CA368977555 | CFTR | c.852G>C (p.Met284Ile) c.*749G>C (n.*749G>C) c.*676G>C (n.*676G>C) c.609G>C (p.Met203Ile) c.762G>C (p.Met254Ile) c.942G>C (p.Met314Ile) | |
7 | g.117536656G>T | CA368977556 | CFTR | c.852G>T (p.Met284Ile) c.*749G>T (n.*749G>T) c.*676G>T (n.*676G>T) c.609G>T (p.Met203Ile) c.762G>T (p.Met254Ile) c.942G>T (p.Met314Ile) | gnomAD v4 |
7 | g.117536657A= | CA1737327402 | CFTR | c.853A= (p.Ile285=) c.*750A= (n.*750A=) c.*677A= (n.*677A=) c.610A= (p.Ile204=) c.763A= (p.Ile255=) c.943A= (p.Ile315=) | |
7 | g.117536657A>C | CA368977557 | CFTR | c.853A>C (p.Ile285Leu) c.*750A>C (n.*750A>C) c.*677A>C (n.*677A>C) c.610A>C (p.Ile204Leu) c.763A>C (p.Ile255Leu) c.943A>C (p.Ile315Leu) | |
7 | g.117536657A>G | CA368977558 | CFTR | c.853A>G (p.Ile285Val) c.*750A>G (n.*750A>G) c.*677A>G (n.*677A>G) c.610A>G (p.Ile204Val) c.763A>G (p.Ile255Val) c.943A>G (p.Ile315Val) | |
7 | g.117536657A>T | CA325714 | CFTR | c.853A>T (p.Ile285Phe) c.*750A>T (n.*750A>T) c.*677A>T (n.*677A>T) c.610A>T (p.Ile204Phe) c.763A>T (p.Ile255Phe) c.943A>T (p.Ile315Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117536658T>A | CA368977560 | CFTR | c.854T>A (p.Ile285Asn) c.*751T>A (n.*751T>A) c.*678T>A (n.*678T>A) c.611T>A (p.Ile204Asn) c.764T>A (p.Ile255Asn) c.944T>A (p.Ile315Asn) | |
7 | g.117536658T>C | CA4450843 | CFTR | c.854T>C (p.Ile285Thr) c.*751T>C (n.*751T>C) c.*678T>C (n.*678T>C) c.611T>C (p.Ile204Thr) c.764T>C (p.Ile255Thr) c.944T>C (p.Ile315Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117536658T>G | CA368977559 | CFTR | c.854T>G (p.Ile285Ser) c.*751T>G (n.*751T>G) c.*678T>G (n.*678T>G) c.611T>G (p.Ile204Ser) c.764T>G (p.Ile255Ser) c.944T>G (p.Ile315Ser) | |
7 | g.117536658T= | CA1737327410 | CFTR | c.854T= (p.Ile285=) c.*751T= (n.*751T=) c.*678T= (n.*678T=) c.611T= (p.Ile204=) c.764T= (p.Ile255=) c.944T= (p.Ile315=) | |
7 | g.117536659T>A | CA457227442 | CFTR | c.855T>A (p.Ile285=) c.*752T>A (n.*752T>A) c.*679T>A (n.*679T>A) c.612T>A (p.Ile204=) c.765T>A (p.Ile255=) c.945T>A (p.Ile315=) | COSMIC |
7 | g.117536659T>C | CA457227443 | CFTR | c.855T>C (p.Ile285=) c.*752T>C (n.*752T>C) c.*679T>C (n.*679T>C) c.612T>C (p.Ile204=) c.765T>C (p.Ile255=) c.945T>C (p.Ile315=) | |
7 | g.117536659T>G | CA368977561 | CFTR | c.855T>G (p.Ile285Met) c.*752T>G (n.*752T>G) c.*679T>G (n.*679T>G) c.612T>G (p.Ile204Met) c.765T>G (p.Ile255Met) c.945T>G (p.Ile315Met) | |
7 | g.117536660G>A | CA368977562 | CFTR | c.856G>A (p.Glu286Lys) c.*753G>A (n.*753G>A) c.*680G>A (n.*680G>A) c.613G>A (p.Glu205Lys) c.766G>A (p.Glu256Lys) c.946G>A (p.Glu316Lys) | |
7 | g.117536660G>C | CA368977563 | CFTR | c.856G>C (p.Glu286Gln) c.*753G>C (n.*753G>C) c.*680G>C (n.*680G>C) c.613G>C (p.Glu205Gln) c.766G>C (p.Glu256Gln) c.946G>C (p.Glu316Gln) | |
7 | g.117536660G= | CA1737327415 | CFTR | c.856G= (p.Glu286=) c.*753G= (n.*753G=) c.*680G= (n.*680G=) c.613G= (p.Glu205=) c.766G= (p.Glu256=) c.946G= (p.Glu316=) | |
7 | g.117536660G>T | CA368977564 | CFTR | c.856G>T (p.Glu286Ter) c.*753G>T (n.*753G>T) c.*680G>T (n.*680G>T) c.613G>T (p.Glu205Ter) c.766G>T (p.Glu256Ter) c.946G>T (p.Glu316Ter) | |
7 | g.117536661A>C | CA368977565 | CFTR | c.857A>C (p.Glu286Ala) c.*754A>C (n.*754A>C) c.*681A>C (n.*681A>C) c.614A>C (p.Glu205Ala) c.767A>C (p.Glu256Ala) c.947A>C (p.Glu316Ala) | |
7 | g.117536661A>G | CA368977566 | CFTR | c.857A>G (p.Glu286Gly) c.*754A>G (n.*754A>G) c.*681A>G (n.*681A>G) c.614A>G (p.Glu205Gly) c.767A>G (p.Glu256Gly) c.947A>G (p.Glu316Gly) | |
7 | g.117536661A>T | CA368977567 | CFTR | c.857A>T (p.Glu286Val) c.*754A>T (n.*754A>T) c.*681A>T (n.*681A>T) c.614A>T (p.Glu205Val) c.767A>T (p.Glu256Val) c.947A>T (p.Glu316Val) | |
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.117536662A>C | CA368977568 | CFTR | c.858A>C (p.Glu286Asp) c.*755A>C (n.*755A>C) c.*682A>C (n.*682A>C) c.615A>C (p.Glu205Asp) c.768A>C (p.Glu256Asp) c.948A>C (p.Glu316Asp) | |
7 | g.117536662A>G | CA457227447 | CFTR | c.858A>G (p.Glu286=) c.*755A>G (n.*755A>G) c.*682A>G (n.*682A>G) c.615A>G (p.Glu205=) c.768A>G (p.Glu256=) c.948A>G (p.Glu316=) | |
7 | g.117536662A>T | CA368977569 | CFTR | c.858A>T (p.Glu286Asp) c.*755A>T (n.*755A>T) c.*682A>T (n.*682A>T) c.615A>T (p.Glu205Asp) c.768A>T (p.Glu256Asp) c.948A>T (p.Glu316Asp) | |
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 |