Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117535281_117538553delCA2580076362CFTRc.613_870-1547del
c.*510_*767-1547del
c.*437_*694-1547del
c.370_627-1547del
c.523_780-1547del
c.703_960-1547del
ClinVar
7g.117536651_117536664delinsAAAATGATTGAAAACA1737327382CFTRc.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=)
7g.117536652_117536664delinsTGCA275389CFTRc.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
7g.117536655T>ACA368977551CFTRc.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)
7g.117536655T>CCA368977552CFTRc.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
7g.117536655T>GCA368977553CFTRc.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
7g.117536658_117536661delCA2684617824CFTRc.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
7g.117536656G>ACA368977554CFTRc.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
7g.117536656G>CCA368977555CFTRc.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)
7g.117536656G>TCA368977556CFTRc.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
7g.117536657A=CA1737327402CFTRc.853A= (p.Ile285=)
c.*750A= (n.*750A=)
c.*677A= (n.*677A=)
c.610A= (p.Ile204=)
c.763A= (p.Ile255=)
c.943A= (p.Ile315=)
7g.117536657A>CCA368977557CFTRc.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)
7g.117536657A>GCA368977558CFTRc.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)
7g.117536657A>TCA325714CFTRc.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
7g.117536658T>ACA368977560CFTRc.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)
7g.117536658T>CCA4450843CFTRc.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
7g.117536658T>GCA368977559CFTRc.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)
7g.117536658T=CA1737327410CFTRc.854T= (p.Ile285=)
c.*751T= (n.*751T=)
c.*678T= (n.*678T=)
c.611T= (p.Ile204=)
c.764T= (p.Ile255=)
c.944T= (p.Ile315=)
7g.117536659T>ACA457227442CFTRc.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
7g.117536659T>CCA457227443CFTRc.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=)
7g.117536659T>GCA368977561CFTRc.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)
7g.117536660G>ACA368977562CFTRc.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)
7g.117536660G>CCA368977563CFTRc.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)
7g.117536660G=CA1737327415CFTRc.856G= (p.Glu286=)
c.*753G= (n.*753G=)
c.*680G= (n.*680G=)
c.613G= (p.Glu205=)
c.766G= (p.Glu256=)
c.946G= (p.Glu316=)
7g.117536660G>TCA368977564CFTRc.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)
7g.117536661A>CCA368977565CFTRc.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)
7g.117536661A>GCA368977566CFTRc.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)
7g.117536661A>TCA368977567CFTRc.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)
7g.117536664dupCA325615CFTRc.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
7g.117536664delCA2695208306CFTRc.860del (p.Asn287ThrfsTer2)
c.*757del (n.*757del)
c.*684del (n.*684del)
c.617del (p.Asn206ThrfsTer2)
c.770del (p.Asn257ThrfsTer2)
c.950del (p.Asn317ThrfsTer2)
7g.117536662A>CCA368977568CFTRc.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)
7g.117536662A>GCA457227447CFTRc.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=)
7g.117536662A>TCA368977569CFTRc.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)
7g.117536662_117536667delinsAAACTTCA1737327429CFTRc.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=)
7g.117536663A=CA1737327439CFTRc.859A= (p.Asn287=)
c.*756A= (n.*756A=)
c.*683A= (n.*683A=)
c.616A= (p.Asn206=)
c.769A= (p.Asn257=)
c.949A= (p.Asn317=)
7g.117536663A>CCA368977571CFTRc.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
7g.117536663A>GCA368977570CFTRc.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)
7g.117536663A>TCA327669CFTRc.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
7g.117536665_117536669delCA327672CFTRc.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
7g.117536664A=CA1737327453CFTRc.860A= (p.Asn287=)
c.*757A= (n.*757A=)
c.*684A= (n.*684A=)
c.617A= (p.Asn206=)
c.770A= (p.Asn257=)
c.950A= (p.Asn317=)
7g.117536664A>CCA368977572CFTRc.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)
7g.117536664A>GCA4450844CFTRc.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
7g.117536664A>TCA368977573CFTRc.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)
7g.117536665C>ACA368977574CFTRc.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)
7g.117536665C=CA1737327461CFTRc.861C= (p.Asn287=)
c.*758C= (n.*758C=)
c.*685C= (n.*685C=)
c.618C= (p.Asn206=)
c.771C= (p.Asn257=)
c.951C= (p.Asn317=)
7g.117536665C>GCA327670CFTRc.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
7g.117536665C>TCA457227454CFTRc.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=)
7g.117536665_117536674delinsCTTAAGACAGCA1737327467CFTRc.861_869+1delinsCTTAAGACAG
c.*758_*766+1delinsCTTAAGACAG
c.*685_*693+1delinsCTTAAGACAG
c.618_626+1delinsCTTAAGACAG
c.771_779+1delinsCTTAAGACAG
c.951_959+1delinsCTTAAGACAG
7g.117536666T>ACA368977575CFTRc.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)
7g.117536666T>CCA457227457CFTRc.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

Number of alleles fetched