Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.35761254_35761264del | CA2580099710 | RBFOX2 | c.815_825del (p.Asn272SerfsTer?) c.695_705del (p.Asn232SerfsTer?) c.*226_*236del (n.*226_*236del) c.*202_*212del (n.*202_*212del) c.*145_*155del (n.*145_*155del) c.905_915del (p.Asn302SerfsTer?) c.638_648del (p.Asn213SerfsTer?) c.632_642del (p.Asn211SerfsTer?) c.635_645del (p.Asn212SerfsTer?) c.692_702del (p.Asn231SerfsTer?) c.250_260del c.902_912del (p.Asn301SerfsTer?) c.761_771del (p.Asn254SerfsTer?) c.758_768del (p.Asn253SerfsTer?) c.683_693del (p.Asn228SerfsTer?) c.731_741del (p.Asn244SerfsTer?) c.665_675del (p.Asn222SerfsTer?) c.827_837del (p.Asn276SerfsTer?) c.713_723del (p.Asn238SerfsTer?) c.710_720del (p.Asn237SerfsTer?) c.824_834del (p.Asn275SerfsTer?) c.680_690del (p.Asn227SerfsTer?) c.899_909del (p.Asn300SerfsTer?) c.809_819del (p.Asn270SerfsTer?) | ClinVar |
22 | g.35761252G>A | CA411358984 | RBFOX2 | c.824C>T (p.Ala275Val) c.704C>T (p.Ala235Val) c.*235C>T (n.*235C>T) c.*211C>T (n.*211C>T) c.*154C>T (n.*154C>T) c.914C>T (p.Ala305Val) c.647C>T (p.Ala216Val) c.641C>T (p.Ala214Val) c.644C>T (p.Ala215Val) c.701C>T (p.Ala234Val) c.259C>T c.911C>T (p.Ala304Val) c.770C>T (p.Ala257Val) c.767C>T (p.Ala256Val) c.692C>T (p.Ala231Val) c.740C>T (p.Ala247Val) c.674C>T (p.Ala225Val) c.836C>T (p.Ala279Val) c.722C>T (p.Ala241Val) c.719C>T (p.Ala240Val) c.833C>T (p.Ala278Val) c.689C>T (p.Ala230Val) c.908C>T (p.Ala303Val) c.818C>T (p.Ala273Val) | gnomAD v4 |
22 | g.35761252G>C | CA411358998 | RBFOX2 | c.824C>G (p.Ala275Gly) c.704C>G (p.Ala235Gly) c.*235C>G (n.*235C>G) c.*211C>G (n.*211C>G) c.*154C>G (n.*154C>G) c.914C>G (p.Ala305Gly) c.647C>G (p.Ala216Gly) c.641C>G (p.Ala214Gly) c.644C>G (p.Ala215Gly) c.701C>G (p.Ala234Gly) c.259C>G c.911C>G (p.Ala304Gly) c.770C>G (p.Ala257Gly) c.767C>G (p.Ala256Gly) c.692C>G (p.Ala231Gly) c.740C>G (p.Ala247Gly) c.674C>G (p.Ala225Gly) c.836C>G (p.Ala279Gly) c.722C>G (p.Ala241Gly) c.719C>G (p.Ala240Gly) c.833C>G (p.Ala278Gly) c.689C>G (p.Ala230Gly) c.908C>G (p.Ala303Gly) c.818C>G (p.Ala273Gly) | |
22 | g.35761252G>T | CA411359002 | RBFOX2 | c.824C>A (p.Ala275Glu) c.704C>A (p.Ala235Glu) c.*235C>A (n.*235C>A) c.*211C>A (n.*211C>A) c.*154C>A (n.*154C>A) c.914C>A (p.Ala305Glu) c.647C>A (p.Ala216Glu) c.641C>A (p.Ala214Glu) c.644C>A (p.Ala215Glu) c.701C>A (p.Ala234Glu) c.259C>A c.911C>A (p.Ala304Glu) c.770C>A (p.Ala257Glu) c.767C>A (p.Ala256Glu) c.692C>A (p.Ala231Glu) c.740C>A (p.Ala247Glu) c.674C>A (p.Ala225Glu) c.836C>A (p.Ala279Glu) c.722C>A (p.Ala241Glu) c.719C>A (p.Ala240Glu) c.833C>A (p.Ala278Glu) c.689C>A (p.Ala230Glu) c.908C>A (p.Ala303Glu) c.818C>A (p.Ala273Glu) | |
22 | g.35761253C>A | CA411359005 | RBFOX2 | c.823G>T (p.Ala275Ser) c.703G>T (p.Ala235Ser) c.*234G>T (n.*234G>T) c.*210G>T (n.*210G>T) c.*153G>T (n.*153G>T) c.913G>T (p.Ala305Ser) c.646G>T (p.Ala216Ser) c.640G>T (p.Ala214Ser) c.643G>T (p.Ala215Ser) c.700G>T (p.Ala234Ser) c.258G>T c.910G>T (p.Ala304Ser) c.769G>T (p.Ala257Ser) c.766G>T (p.Ala256Ser) c.691G>T (p.Ala231Ser) c.739G>T (p.Ala247Ser) c.673G>T (p.Ala225Ser) c.835G>T (p.Ala279Ser) c.721G>T (p.Ala241Ser) c.718G>T (p.Ala240Ser) c.832G>T (p.Ala278Ser) c.688G>T (p.Ala230Ser) c.907G>T (p.Ala303Ser) c.817G>T (p.Ala273Ser) | |
22 | g.35761253C>G | CA411359009 | RBFOX2 | c.823G>C (p.Ala275Pro) c.703G>C (p.Ala235Pro) c.*234G>C (n.*234G>C) c.*210G>C (n.*210G>C) c.*153G>C (n.*153G>C) c.913G>C (p.Ala305Pro) c.646G>C (p.Ala216Pro) c.640G>C (p.Ala214Pro) c.643G>C (p.Ala215Pro) c.700G>C (p.Ala234Pro) c.258G>C c.910G>C (p.Ala304Pro) c.769G>C (p.Ala257Pro) c.766G>C (p.Ala256Pro) c.691G>C (p.Ala231Pro) c.739G>C (p.Ala247Pro) c.673G>C (p.Ala225Pro) c.835G>C (p.Ala279Pro) c.721G>C (p.Ala241Pro) c.718G>C (p.Ala240Pro) c.832G>C (p.Ala278Pro) c.688G>C (p.Ala230Pro) c.907G>C (p.Ala303Pro) c.817G>C (p.Ala273Pro) | |
22 | g.35761253C>T | CA411359010 | RBFOX2 | c.823G>A (p.Ala275Thr) c.703G>A (p.Ala235Thr) c.*234G>A (n.*234G>A) c.*210G>A (n.*210G>A) c.*153G>A (n.*153G>A) c.913G>A (p.Ala305Thr) c.646G>A (p.Ala216Thr) c.640G>A (p.Ala214Thr) c.643G>A (p.Ala215Thr) c.700G>A (p.Ala234Thr) c.258G>A c.910G>A (p.Ala304Thr) c.769G>A (p.Ala257Thr) c.766G>A (p.Ala256Thr) c.691G>A (p.Ala231Thr) c.739G>A (p.Ala247Thr) c.673G>A (p.Ala225Thr) c.835G>A (p.Ala279Thr) c.721G>A (p.Ala241Thr) c.718G>A (p.Ala240Thr) c.832G>A (p.Ala278Thr) c.688G>A (p.Ala230Thr) c.907G>A (p.Ala303Thr) c.817G>A (p.Ala273Thr) | |
22 | g.35761254T>A | CA514339649 | RBFOX2 | c.822A>T (p.Ala274=) c.702A>T (p.Ala234=) c.*233A>T (n.*233A>T) c.*209A>T (n.*209A>T) c.*152A>T (n.*152A>T) c.912A>T (p.Ala304=) c.645A>T (p.Ala215=) c.639A>T (p.Ala213=) c.642A>T (p.Ala214=) c.699A>T (p.Ala233=) c.257A>T c.909A>T (p.Ala303=) c.768A>T (p.Ala256=) c.765A>T (p.Ala255=) c.690A>T (p.Ala230=) c.738A>T (p.Ala246=) c.672A>T (p.Ala224=) c.834A>T (p.Ala278=) c.720A>T (p.Ala240=) c.717A>T (p.Ala239=) c.831A>T (p.Ala277=) c.687A>T (p.Ala229=) c.906A>T (p.Ala302=) c.816A>T (p.Ala272=) | |
22 | g.35761254T>C | CA514339650 | RBFOX2 | c.822A>G (p.Ala274=) c.702A>G (p.Ala234=) c.*233A>G (n.*233A>G) c.*209A>G (n.*209A>G) c.*152A>G (n.*152A>G) c.912A>G (p.Ala304=) c.645A>G (p.Ala215=) c.639A>G (p.Ala213=) c.642A>G (p.Ala214=) c.699A>G (p.Ala233=) c.257A>G c.909A>G (p.Ala303=) c.768A>G (p.Ala256=) c.765A>G (p.Ala255=) c.690A>G (p.Ala230=) c.738A>G (p.Ala246=) c.672A>G (p.Ala224=) c.834A>G (p.Ala278=) c.720A>G (p.Ala240=) c.717A>G (p.Ala239=) c.831A>G (p.Ala277=) c.687A>G (p.Ala229=) c.906A>G (p.Ala302=) c.816A>G (p.Ala272=) | |
22 | g.35761254T>G | CA514339651 | RBFOX2 | c.822A>C (p.Ala274=) c.702A>C (p.Ala234=) c.*233A>C (n.*233A>C) c.*209A>C (n.*209A>C) c.*152A>C (n.*152A>C) c.912A>C (p.Ala304=) c.645A>C (p.Ala215=) c.639A>C (p.Ala213=) c.642A>C (p.Ala214=) c.699A>C (p.Ala233=) c.257A>C c.909A>C (p.Ala303=) c.768A>C (p.Ala256=) c.765A>C (p.Ala255=) c.690A>C (p.Ala230=) c.738A>C (p.Ala246=) c.672A>C (p.Ala224=) c.834A>C (p.Ala278=) c.720A>C (p.Ala240=) c.717A>C (p.Ala239=) c.831A>C (p.Ala277=) c.687A>C (p.Ala229=) c.906A>C (p.Ala302=) c.816A>C (p.Ala272=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.35761254T= | CA2403556520 | RBFOX2 | c.822A= (p.Ala274=) c.702A= (p.Ala234=) c.*233A= (n.*233A=) c.*209A= (n.*209A=) c.*152A= (n.*152A=) c.912A= (p.Ala304=) c.645A= (p.Ala215=) c.639A= (p.Ala213=) c.642A= (p.Ala214=) c.699A= (p.Ala233=) c.257A= c.909A= (p.Ala303=) c.768A= (p.Ala256=) c.765A= (p.Ala255=) c.690A= (p.Ala230=) c.738A= (p.Ala246=) c.672A= (p.Ala224=) c.834A= (p.Ala278=) c.720A= (p.Ala240=) c.717A= (p.Ala239=) c.831A= (p.Ala277=) c.687A= (p.Ala229=) c.906A= (p.Ala302=) c.816A= (p.Ala272=) | |
22 | g.35761255G>A | CA411359013 | RBFOX2 | c.821C>T (p.Ala274Val) c.701C>T (p.Ala234Val) c.*232C>T (n.*232C>T) c.*208C>T (n.*208C>T) c.*151C>T (n.*151C>T) c.911C>T (p.Ala304Val) c.644C>T (p.Ala215Val) c.638C>T (p.Ala213Val) c.641C>T (p.Ala214Val) c.698C>T (p.Ala233Val) c.256C>T c.908C>T (p.Ala303Val) c.767C>T (p.Ala256Val) c.764C>T (p.Ala255Val) c.689C>T (p.Ala230Val) c.737C>T (p.Ala246Val) c.671C>T (p.Ala224Val) c.833C>T (p.Ala278Val) c.719C>T (p.Ala240Val) c.716C>T (p.Ala239Val) c.830C>T (p.Ala277Val) c.686C>T (p.Ala229Val) c.905C>T (p.Ala302Val) c.815C>T (p.Ala272Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.35761255G>C | CA411359011 | RBFOX2 | c.821C>G (p.Ala274Gly) c.701C>G (p.Ala234Gly) c.*232C>G (n.*232C>G) c.*208C>G (n.*208C>G) c.*151C>G (n.*151C>G) c.911C>G (p.Ala304Gly) c.644C>G (p.Ala215Gly) c.638C>G (p.Ala213Gly) c.641C>G (p.Ala214Gly) c.698C>G (p.Ala233Gly) c.256C>G c.908C>G (p.Ala303Gly) c.767C>G (p.Ala256Gly) c.764C>G (p.Ala255Gly) c.689C>G (p.Ala230Gly) c.737C>G (p.Ala246Gly) c.671C>G (p.Ala224Gly) c.833C>G (p.Ala278Gly) c.719C>G (p.Ala240Gly) c.716C>G (p.Ala239Gly) c.830C>G (p.Ala277Gly) c.686C>G (p.Ala229Gly) c.905C>G (p.Ala302Gly) c.815C>G (p.Ala272Gly) | |
22 | g.35761255G= | CA2403556521 | RBFOX2 | c.821C= (p.Ala274=) c.701C= (p.Ala234=) c.*232C= (n.*232C=) c.*208C= (n.*208C=) c.*151C= (n.*151C=) c.911C= (p.Ala304=) c.644C= (p.Ala215=) c.638C= (p.Ala213=) c.641C= (p.Ala214=) c.698C= (p.Ala233=) c.256C= c.908C= (p.Ala303=) c.767C= (p.Ala256=) c.764C= (p.Ala255=) c.689C= (p.Ala230=) c.737C= (p.Ala246=) c.671C= (p.Ala224=) c.833C= (p.Ala278=) c.719C= (p.Ala240=) c.716C= (p.Ala239=) c.830C= (p.Ala277=) c.686C= (p.Ala229=) c.905C= (p.Ala302=) c.815C= (p.Ala272=) | |
22 | g.35761255G>T | CA411359012 | RBFOX2 | c.821C>A (p.Ala274Glu) c.701C>A (p.Ala234Glu) c.*232C>A (n.*232C>A) c.*208C>A (n.*208C>A) c.*151C>A (n.*151C>A) c.911C>A (p.Ala304Glu) c.644C>A (p.Ala215Glu) c.638C>A (p.Ala213Glu) c.641C>A (p.Ala214Glu) c.698C>A (p.Ala233Glu) c.256C>A c.908C>A (p.Ala303Glu) c.767C>A (p.Ala256Glu) c.764C>A (p.Ala255Glu) c.689C>A (p.Ala230Glu) c.737C>A (p.Ala246Glu) c.671C>A (p.Ala224Glu) c.833C>A (p.Ala278Glu) c.719C>A (p.Ala240Glu) c.716C>A (p.Ala239Glu) c.830C>A (p.Ala277Glu) c.686C>A (p.Ala229Glu) c.905C>A (p.Ala302Glu) c.815C>A (p.Ala272Glu) | |
22 | g.35761256C>A | CA323545620 | RBFOX2 | c.820G>T (p.Ala274Ser) c.700G>T (p.Ala234Ser) c.*231G>T (n.*231G>T) c.*207G>T (n.*207G>T) c.*150G>T (n.*150G>T) c.910G>T (p.Ala304Ser) c.643G>T (p.Ala215Ser) c.637G>T (p.Ala213Ser) c.640G>T (p.Ala214Ser) c.697G>T (p.Ala233Ser) c.255G>T c.907G>T (p.Ala303Ser) c.766G>T (p.Ala256Ser) c.763G>T (p.Ala255Ser) c.688G>T (p.Ala230Ser) c.736G>T (p.Ala246Ser) c.670G>T (p.Ala224Ser) c.832G>T (p.Ala278Ser) c.718G>T (p.Ala240Ser) c.715G>T (p.Ala239Ser) c.829G>T (p.Ala277Ser) c.685G>T (p.Ala229Ser) c.904G>T (p.Ala302Ser) c.814G>T (p.Ala272Ser) | dbSNP |
22 | g.35761256C= | CA2403556522 | RBFOX2 | c.820G= (p.Ala274=) c.700G= (p.Ala234=) c.*231G= (n.*231G=) c.*207G= (n.*207G=) c.*150G= (n.*150G=) c.910G= (p.Ala304=) c.643G= (p.Ala215=) c.637G= (p.Ala213=) c.640G= (p.Ala214=) c.697G= (p.Ala233=) c.255G= c.907G= (p.Ala303=) c.766G= (p.Ala256=) c.763G= (p.Ala255=) c.688G= (p.Ala230=) c.736G= (p.Ala246=) c.670G= (p.Ala224=) c.832G= (p.Ala278=) c.718G= (p.Ala240=) c.715G= (p.Ala239=) c.829G= (p.Ala277=) c.685G= (p.Ala229=) c.904G= (p.Ala302=) c.814G= (p.Ala272=) | |
22 | g.35761256C>G | CA411359024 | RBFOX2 | c.820G>C (p.Ala274Pro) c.700G>C (p.Ala234Pro) c.*231G>C (n.*231G>C) c.*207G>C (n.*207G>C) c.*150G>C (n.*150G>C) c.910G>C (p.Ala304Pro) c.643G>C (p.Ala215Pro) c.637G>C (p.Ala213Pro) c.640G>C (p.Ala214Pro) c.697G>C (p.Ala233Pro) c.255G>C c.907G>C (p.Ala303Pro) c.766G>C (p.Ala256Pro) c.763G>C (p.Ala255Pro) c.688G>C (p.Ala230Pro) c.736G>C (p.Ala246Pro) c.670G>C (p.Ala224Pro) c.832G>C (p.Ala278Pro) c.718G>C (p.Ala240Pro) c.715G>C (p.Ala239Pro) c.829G>C (p.Ala277Pro) c.685G>C (p.Ala229Pro) c.904G>C (p.Ala302Pro) c.814G>C (p.Ala272Pro) | |
22 | g.35761256C>T | CA411359025 | RBFOX2 | c.820G>A (p.Ala274Thr) c.700G>A (p.Ala234Thr) c.*231G>A (n.*231G>A) c.*207G>A (n.*207G>A) c.*150G>A (n.*150G>A) c.910G>A (p.Ala304Thr) c.643G>A (p.Ala215Thr) c.637G>A (p.Ala213Thr) c.640G>A (p.Ala214Thr) c.697G>A (p.Ala233Thr) c.255G>A c.907G>A (p.Ala303Thr) c.766G>A (p.Ala256Thr) c.763G>A (p.Ala255Thr) c.688G>A (p.Ala230Thr) c.736G>A (p.Ala246Thr) c.670G>A (p.Ala224Thr) c.832G>A (p.Ala278Thr) c.718G>A (p.Ala240Thr) c.715G>A (p.Ala239Thr) c.829G>A (p.Ala277Thr) c.685G>A (p.Ala229Thr) c.904G>A (p.Ala302Thr) c.814G>A (p.Ala272Thr) | |
22 | g.35761257A= | CA2403556523 | RBFOX2 | c.819T= (p.Asp273=) c.699T= (p.Asp233=) c.*230T= (n.*230T=) c.*206T= (n.*206T=) c.*149T= (n.*149T=) c.909T= (p.Asp303=) c.642T= (p.Asp214=) c.636T= (p.Asp212=) c.639T= (p.Asp213=) c.696T= (p.Asp232=) c.254T= c.906T= (p.Asp302=) c.765T= (p.Asp255=) c.762T= (p.Asp254=) c.687T= (p.Asp229=) c.735T= (p.Asp245=) c.669T= (p.Asp223=) c.831T= (p.Asp277=) c.717T= (p.Asp239=) c.714T= (p.Asp238=) c.828T= (p.Asp276=) c.684T= (p.Asp228=) c.903T= (p.Asp301=) c.813T= (p.Asp271=) | |
22 | g.35761257A>C | CA10206825 | RBFOX2 | c.819T>G (p.Asp273Glu) c.699T>G (p.Asp233Glu) c.*230T>G (n.*230T>G) c.*206T>G (n.*206T>G) c.*149T>G (n.*149T>G) c.909T>G (p.Asp303Glu) c.642T>G (p.Asp214Glu) c.636T>G (p.Asp212Glu) c.639T>G (p.Asp213Glu) c.696T>G (p.Asp232Glu) c.254T>G c.906T>G (p.Asp302Glu) c.765T>G (p.Asp255Glu) c.762T>G (p.Asp254Glu) c.687T>G (p.Asp229Glu) c.735T>G (p.Asp245Glu) c.669T>G (p.Asp223Glu) c.831T>G (p.Asp277Glu) c.717T>G (p.Asp239Glu) c.714T>G (p.Asp238Glu) c.828T>G (p.Asp276Glu) c.684T>G (p.Asp228Glu) c.903T>G (p.Asp301Glu) c.813T>G (p.Asp271Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.35761257A>G | CA514339652 | RBFOX2 | c.819T>C (p.Asp273=) c.699T>C (p.Asp233=) c.*230T>C (n.*230T>C) c.*206T>C (n.*206T>C) c.*149T>C (n.*149T>C) c.909T>C (p.Asp303=) c.642T>C (p.Asp214=) c.636T>C (p.Asp212=) c.639T>C (p.Asp213=) c.696T>C (p.Asp232=) c.254T>C c.906T>C (p.Asp302=) c.765T>C (p.Asp255=) c.762T>C (p.Asp254=) c.687T>C (p.Asp229=) c.735T>C (p.Asp245=) c.669T>C (p.Asp223=) c.831T>C (p.Asp277=) c.717T>C (p.Asp239=) c.714T>C (p.Asp238=) c.828T>C (p.Asp276=) c.684T>C (p.Asp228=) c.903T>C (p.Asp301=) c.813T>C (p.Asp271=) | dbSNP |
22 | g.35761257A>T | CA411359029 | RBFOX2 | c.819T>A (p.Asp273Glu) c.699T>A (p.Asp233Glu) c.*230T>A (n.*230T>A) c.*206T>A (n.*206T>A) c.*149T>A (n.*149T>A) c.909T>A (p.Asp303Glu) c.642T>A (p.Asp214Glu) c.636T>A (p.Asp212Glu) c.639T>A (p.Asp213Glu) c.696T>A (p.Asp232Glu) c.254T>A c.906T>A (p.Asp302Glu) c.765T>A (p.Asp255Glu) c.762T>A (p.Asp254Glu) c.687T>A (p.Asp229Glu) c.735T>A (p.Asp245Glu) c.669T>A (p.Asp223Glu) c.831T>A (p.Asp277Glu) c.717T>A (p.Asp239Glu) c.714T>A (p.Asp238Glu) c.828T>A (p.Asp276Glu) c.684T>A (p.Asp228Glu) c.903T>A (p.Asp301Glu) c.813T>A (p.Asp271Glu) | |
22 | g.35761258T>A | CA411359035 | RBFOX2 | c.818A>T (p.Asp273Val) c.698A>T (p.Asp233Val) c.*229A>T (n.*229A>T) c.*205A>T (n.*205A>T) c.*148A>T (n.*148A>T) c.908A>T (p.Asp303Val) c.641A>T (p.Asp214Val) c.635A>T (p.Asp212Val) c.638A>T (p.Asp213Val) c.695A>T (p.Asp232Val) c.253A>T c.905A>T (p.Asp302Val) c.764A>T (p.Asp255Val) c.761A>T (p.Asp254Val) c.686A>T (p.Asp229Val) c.734A>T (p.Asp245Val) c.668A>T (p.Asp223Val) c.830A>T (p.Asp277Val) c.716A>T (p.Asp239Val) c.713A>T (p.Asp238Val) c.827A>T (p.Asp276Val) c.683A>T (p.Asp228Val) c.902A>T (p.Asp301Val) c.812A>T (p.Asp271Val) | |
22 | g.35761258T>C | CA411359039 | RBFOX2 | c.818A>G (p.Asp273Gly) c.698A>G (p.Asp233Gly) c.*229A>G (n.*229A>G) c.*205A>G (n.*205A>G) c.*148A>G (n.*148A>G) c.908A>G (p.Asp303Gly) c.641A>G (p.Asp214Gly) c.635A>G (p.Asp212Gly) c.638A>G (p.Asp213Gly) c.695A>G (p.Asp232Gly) c.253A>G c.905A>G (p.Asp302Gly) c.764A>G (p.Asp255Gly) c.761A>G (p.Asp254Gly) c.686A>G (p.Asp229Gly) c.734A>G (p.Asp245Gly) c.668A>G (p.Asp223Gly) c.830A>G (p.Asp277Gly) c.716A>G (p.Asp239Gly) c.713A>G (p.Asp238Gly) c.827A>G (p.Asp276Gly) c.683A>G (p.Asp228Gly) c.902A>G (p.Asp301Gly) c.812A>G (p.Asp271Gly) | gnomAD v4 |
22 | g.35761258T>G | CA411359043 | RBFOX2 | c.818A>C (p.Asp273Ala) c.698A>C (p.Asp233Ala) c.*229A>C (n.*229A>C) c.*205A>C (n.*205A>C) c.*148A>C (n.*148A>C) c.908A>C (p.Asp303Ala) c.641A>C (p.Asp214Ala) c.635A>C (p.Asp212Ala) c.638A>C (p.Asp213Ala) c.695A>C (p.Asp232Ala) c.253A>C c.905A>C (p.Asp302Ala) c.764A>C (p.Asp255Ala) c.761A>C (p.Asp254Ala) c.686A>C (p.Asp229Ala) c.734A>C (p.Asp245Ala) c.668A>C (p.Asp223Ala) c.830A>C (p.Asp277Ala) c.716A>C (p.Asp239Ala) c.713A>C (p.Asp238Ala) c.827A>C (p.Asp276Ala) c.683A>C (p.Asp228Ala) c.902A>C (p.Asp301Ala) c.812A>C (p.Asp271Ala) | |
22 | g.35761259C>A | CA411359045 | RBFOX2 | c.817G>T (p.Asp273Tyr) c.697G>T (p.Asp233Tyr) c.*228G>T (n.*228G>T) c.*204G>T (n.*204G>T) c.*147G>T (n.*147G>T) c.907G>T (p.Asp303Tyr) c.640G>T (p.Asp214Tyr) c.634G>T (p.Asp212Tyr) c.637G>T (p.Asp213Tyr) c.694G>T (p.Asp232Tyr) c.252G>T c.904G>T (p.Asp302Tyr) c.763G>T (p.Asp255Tyr) c.760G>T (p.Asp254Tyr) c.685G>T (p.Asp229Tyr) c.733G>T (p.Asp245Tyr) c.667G>T (p.Asp223Tyr) c.829G>T (p.Asp277Tyr) c.715G>T (p.Asp239Tyr) c.712G>T (p.Asp238Tyr) c.826G>T (p.Asp276Tyr) c.682G>T (p.Asp228Tyr) c.901G>T (p.Asp301Tyr) c.811G>T (p.Asp271Tyr) | |
22 | g.35761259C>G | CA411359046 | RBFOX2 | c.817G>C (p.Asp273His) c.697G>C (p.Asp233His) c.*228G>C (n.*228G>C) c.*204G>C (n.*204G>C) c.*147G>C (n.*147G>C) c.907G>C (p.Asp303His) c.640G>C (p.Asp214His) c.634G>C (p.Asp212His) c.637G>C (p.Asp213His) c.694G>C (p.Asp232His) c.252G>C c.904G>C (p.Asp302His) c.763G>C (p.Asp255His) c.760G>C (p.Asp254His) c.685G>C (p.Asp229His) c.733G>C (p.Asp245His) c.667G>C (p.Asp223His) c.829G>C (p.Asp277His) c.715G>C (p.Asp239His) c.712G>C (p.Asp238His) c.826G>C (p.Asp276His) c.682G>C (p.Asp228His) c.901G>C (p.Asp301His) c.811G>C (p.Asp271His) | |
22 | g.35761259C>T | CA411359047 | RBFOX2 | c.817G>A (p.Asp273Asn) c.697G>A (p.Asp233Asn) c.*228G>A (n.*228G>A) c.*204G>A (n.*204G>A) c.*147G>A (n.*147G>A) c.907G>A (p.Asp303Asn) c.640G>A (p.Asp214Asn) c.634G>A (p.Asp212Asn) c.637G>A (p.Asp213Asn) c.694G>A (p.Asp232Asn) c.252G>A c.904G>A (p.Asp302Asn) c.763G>A (p.Asp255Asn) c.760G>A (p.Asp254Asn) c.685G>A (p.Asp229Asn) c.733G>A (p.Asp245Asn) c.667G>A (p.Asp223Asn) c.829G>A (p.Asp277Asn) c.715G>A (p.Asp239Asn) c.712G>A (p.Asp238Asn) c.826G>A (p.Asp276Asn) c.682G>A (p.Asp228Asn) c.901G>A (p.Asp301Asn) c.811G>A (p.Asp271Asn) | |
22 | g.35761260A= | CA2403556524 | RBFOX2 | c.816T= (p.Asn272=) c.696T= (p.Asn232=) c.*227T= (n.*227T=) c.*203T= (n.*203T=) c.*146T= (n.*146T=) c.906T= (p.Asn302=) c.639T= (p.Asn213=) c.633T= (p.Asn211=) c.636T= (p.Asn212=) c.693T= (p.Asn231=) c.251T= c.903T= (p.Asn301=) c.762T= (p.Asn254=) c.759T= (p.Asn253=) c.684T= (p.Asn228=) c.732T= (p.Asn244=) c.666T= (p.Asn222=) c.828T= (p.Asn276=) c.714T= (p.Asn238=) c.711T= (p.Asn237=) c.825T= (p.Asn275=) c.681T= (p.Asn227=) c.900T= (p.Asn300=) c.810T= (p.Asn270=) | |
22 | g.35761260A>C | CA411359049 | RBFOX2 | c.816T>G (p.Asn272Lys) c.696T>G (p.Asn232Lys) c.*227T>G (n.*227T>G) c.*203T>G (n.*203T>G) c.*146T>G (n.*146T>G) c.906T>G (p.Asn302Lys) c.639T>G (p.Asn213Lys) c.633T>G (p.Asn211Lys) c.636T>G (p.Asn212Lys) c.693T>G (p.Asn231Lys) c.251T>G c.903T>G (p.Asn301Lys) c.762T>G (p.Asn254Lys) c.759T>G (p.Asn253Lys) c.684T>G (p.Asn228Lys) c.732T>G (p.Asn244Lys) c.666T>G (p.Asn222Lys) c.828T>G (p.Asn276Lys) c.714T>G (p.Asn238Lys) c.711T>G (p.Asn237Lys) c.825T>G (p.Asn275Lys) c.681T>G (p.Asn227Lys) c.900T>G (p.Asn300Lys) c.810T>G (p.Asn270Lys) | |
22 | g.35761260A>G | CA10206826 | RBFOX2 | c.816T>C (p.Asn272=) c.696T>C (p.Asn232=) c.*227T>C (n.*227T>C) c.*203T>C (n.*203T>C) c.*146T>C (n.*146T>C) c.906T>C (p.Asn302=) c.639T>C (p.Asn213=) c.633T>C (p.Asn211=) c.636T>C (p.Asn212=) c.693T>C (p.Asn231=) c.251T>C c.903T>C (p.Asn301=) c.762T>C (p.Asn254=) c.759T>C (p.Asn253=) c.684T>C (p.Asn228=) c.732T>C (p.Asn244=) c.666T>C (p.Asn222=) c.828T>C (p.Asn276=) c.714T>C (p.Asn238=) c.711T>C (p.Asn237=) c.825T>C (p.Asn275=) c.681T>C (p.Asn227=) c.900T>C (p.Asn300=) c.810T>C (p.Asn270=) | dbSNP ExAC gnomAD v2 |
22 | g.35761260A>T | CA411359048 | RBFOX2 | c.816T>A (p.Asn272Lys) c.696T>A (p.Asn232Lys) c.*227T>A (n.*227T>A) c.*203T>A (n.*203T>A) c.*146T>A (n.*146T>A) c.906T>A (p.Asn302Lys) c.639T>A (p.Asn213Lys) c.633T>A (p.Asn211Lys) c.636T>A (p.Asn212Lys) c.693T>A (p.Asn231Lys) c.251T>A c.903T>A (p.Asn301Lys) c.762T>A (p.Asn254Lys) c.759T>A (p.Asn253Lys) c.684T>A (p.Asn228Lys) c.732T>A (p.Asn244Lys) c.666T>A (p.Asn222Lys) c.828T>A (p.Asn276Lys) c.714T>A (p.Asn238Lys) c.711T>A (p.Asn237Lys) c.825T>A (p.Asn275Lys) c.681T>A (p.Asn227Lys) c.900T>A (p.Asn300Lys) c.810T>A (p.Asn270Lys) | |
22 | g.35761261T>A | CA411359054 | RBFOX2 | c.815A>T (p.Asn272Ile) c.695A>T (p.Asn232Ile) c.*226A>T (n.*226A>T) c.*202A>T (n.*202A>T) c.*145A>T (n.*145A>T) c.905A>T (p.Asn302Ile) c.638A>T (p.Asn213Ile) c.632A>T (p.Asn211Ile) c.635A>T (p.Asn212Ile) c.692A>T (p.Asn231Ile) c.250A>T c.902A>T (p.Asn301Ile) c.761A>T (p.Asn254Ile) c.758A>T (p.Asn253Ile) c.683A>T (p.Asn228Ile) c.731A>T (p.Asn244Ile) c.665A>T (p.Asn222Ile) c.827A>T (p.Asn276Ile) c.713A>T (p.Asn238Ile) c.710A>T (p.Asn237Ile) c.824A>T (p.Asn275Ile) c.680A>T (p.Asn227Ile) c.899A>T (p.Asn300Ile) c.809A>T (p.Asn270Ile) | |
22 | g.35761261T>C | CA323545632 | RBFOX2 | c.815A>G (p.Asn272Ser) c.695A>G (p.Asn232Ser) c.*226A>G (n.*226A>G) c.*202A>G (n.*202A>G) c.*145A>G (n.*145A>G) c.905A>G (p.Asn302Ser) c.638A>G (p.Asn213Ser) c.632A>G (p.Asn211Ser) c.635A>G (p.Asn212Ser) c.692A>G (p.Asn231Ser) c.250A>G c.902A>G (p.Asn301Ser) c.761A>G (p.Asn254Ser) c.758A>G (p.Asn253Ser) c.683A>G (p.Asn228Ser) c.731A>G (p.Asn244Ser) c.665A>G (p.Asn222Ser) c.827A>G (p.Asn276Ser) c.713A>G (p.Asn238Ser) c.710A>G (p.Asn237Ser) c.824A>G (p.Asn275Ser) c.680A>G (p.Asn227Ser) c.899A>G (p.Asn300Ser) c.809A>G (p.Asn270Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.35761261T>G | CA411359058 | RBFOX2 | c.815A>C (p.Asn272Thr) c.695A>C (p.Asn232Thr) c.*226A>C (n.*226A>C) c.*202A>C (n.*202A>C) c.*145A>C (n.*145A>C) c.905A>C (p.Asn302Thr) c.638A>C (p.Asn213Thr) c.632A>C (p.Asn211Thr) c.635A>C (p.Asn212Thr) c.692A>C (p.Asn231Thr) c.250A>C c.902A>C (p.Asn301Thr) c.761A>C (p.Asn254Thr) c.758A>C (p.Asn253Thr) c.683A>C (p.Asn228Thr) c.731A>C (p.Asn244Thr) c.665A>C (p.Asn222Thr) c.827A>C (p.Asn276Thr) c.713A>C (p.Asn238Thr) c.710A>C (p.Asn237Thr) c.824A>C (p.Asn275Thr) c.680A>C (p.Asn227Thr) c.899A>C (p.Asn300Thr) c.809A>C (p.Asn270Thr) | |
22 | g.35761261T= | CA2403556525 | RBFOX2 | c.815A= (p.Asn272=) c.695A= (p.Asn232=) c.*226A= (n.*226A=) c.*202A= (n.*202A=) c.*145A= (n.*145A=) c.905A= (p.Asn302=) c.638A= (p.Asn213=) c.632A= (p.Asn211=) c.635A= (p.Asn212=) c.692A= (p.Asn231=) c.250A= c.902A= (p.Asn301=) c.761A= (p.Asn254=) c.758A= (p.Asn253=) c.683A= (p.Asn228=) c.731A= (p.Asn244=) c.665A= (p.Asn222=) c.827A= (p.Asn276=) c.713A= (p.Asn238=) c.710A= (p.Asn237=) c.824A= (p.Asn275=) c.680A= (p.Asn227=) c.899A= (p.Asn300=) c.809A= (p.Asn270=) | |
22 | g.35761262T>A | CA411359060 | RBFOX2 | c.814A>T (p.Asn272Tyr) c.694A>T (p.Asn232Tyr) c.*225A>T (n.*225A>T) c.*201A>T (n.*201A>T) c.*144A>T (n.*144A>T) c.904A>T (p.Asn302Tyr) c.637A>T (p.Asn213Tyr) c.631A>T (p.Asn211Tyr) c.634A>T (p.Asn212Tyr) c.691A>T (p.Asn231Tyr) c.249A>T c.901A>T (p.Asn301Tyr) c.760A>T (p.Asn254Tyr) c.757A>T (p.Asn253Tyr) c.682A>T (p.Asn228Tyr) c.730A>T (p.Asn244Tyr) c.664A>T (p.Asn222Tyr) c.826A>T (p.Asn276Tyr) c.712A>T (p.Asn238Tyr) c.709A>T (p.Asn237Tyr) c.823A>T (p.Asn275Tyr) c.679A>T (p.Asn227Tyr) c.898A>T (p.Asn300Tyr) c.808A>T (p.Asn270Tyr) | |
22 | g.35761262T>C | CA411359061 | RBFOX2 | c.814A>G (p.Asn272Asp) c.694A>G (p.Asn232Asp) c.*225A>G (n.*225A>G) c.*201A>G (n.*201A>G) c.*144A>G (n.*144A>G) c.904A>G (p.Asn302Asp) c.637A>G (p.Asn213Asp) c.631A>G (p.Asn211Asp) c.634A>G (p.Asn212Asp) c.691A>G (p.Asn231Asp) c.249A>G c.901A>G (p.Asn301Asp) c.760A>G (p.Asn254Asp) c.757A>G (p.Asn253Asp) c.682A>G (p.Asn228Asp) c.730A>G (p.Asn244Asp) c.664A>G (p.Asn222Asp) c.826A>G (p.Asn276Asp) c.712A>G (p.Asn238Asp) c.709A>G (p.Asn237Asp) c.823A>G (p.Asn275Asp) c.679A>G (p.Asn227Asp) c.898A>G (p.Asn300Asp) c.808A>G (p.Asn270Asp) | |
22 | g.35761262T>G | CA411359062 | RBFOX2 | c.814A>C (p.Asn272His) c.694A>C (p.Asn232His) c.*225A>C (n.*225A>C) c.*201A>C (n.*201A>C) c.*144A>C (n.*144A>C) c.904A>C (p.Asn302His) c.637A>C (p.Asn213His) c.631A>C (p.Asn211His) c.634A>C (p.Asn212His) c.691A>C (p.Asn231His) c.249A>C c.901A>C (p.Asn301His) c.760A>C (p.Asn254His) c.757A>C (p.Asn253His) c.682A>C (p.Asn228His) c.730A>C (p.Asn244His) c.664A>C (p.Asn222His) c.826A>C (p.Asn276His) c.712A>C (p.Asn238His) c.709A>C (p.Asn237His) c.823A>C (p.Asn275His) c.679A>C (p.Asn227His) c.898A>C (p.Asn300His) c.808A>C (p.Asn270His) | |
22 | g.35761263G>A | CA514339653 | RBFOX2 | c.813C>T (p.Gly271=) c.693C>T (p.Gly231=) c.*224C>T (n.*224C>T) c.*200C>T (n.*200C>T) c.*143C>T (n.*143C>T) c.903C>T (p.Gly301=) c.636C>T (p.Gly212=) c.630C>T (p.Gly210=) c.633C>T (p.Gly211=) c.690C>T (p.Gly230=) c.248C>T c.900C>T (p.Gly300=) c.759C>T (p.Gly253=) c.756C>T (p.Gly252=) c.681C>T (p.Gly227=) c.729C>T (p.Gly243=) c.663C>T (p.Gly221=) c.825C>T (p.Gly275=) c.711C>T (p.Gly237=) c.708C>T (p.Gly236=) c.822C>T (p.Gly274=) c.678C>T (p.Gly226=) c.897C>T (p.Gly299=) c.807C>T (p.Gly269=) | gnomAD v4 |
22 | g.35761263G>C | CA514339654 | RBFOX2 | c.813C>G (p.Gly271=) c.693C>G (p.Gly231=) c.*224C>G (n.*224C>G) c.*200C>G (n.*200C>G) c.*143C>G (n.*143C>G) c.903C>G (p.Gly301=) c.636C>G (p.Gly212=) c.630C>G (p.Gly210=) c.633C>G (p.Gly211=) c.690C>G (p.Gly230=) c.248C>G c.900C>G (p.Gly300=) c.759C>G (p.Gly253=) c.756C>G (p.Gly252=) c.681C>G (p.Gly227=) c.729C>G (p.Gly243=) c.663C>G (p.Gly221=) c.825C>G (p.Gly275=) c.711C>G (p.Gly237=) c.708C>G (p.Gly236=) c.822C>G (p.Gly274=) c.678C>G (p.Gly226=) c.897C>G (p.Gly299=) c.807C>G (p.Gly269=) | |
22 | g.35761263G= | CA2403556526 | RBFOX2 | c.813C= (p.Gly271=) c.693C= (p.Gly231=) c.*224C= (n.*224C=) c.*200C= (n.*200C=) c.*143C= (n.*143C=) c.903C= (p.Gly301=) c.636C= (p.Gly212=) c.630C= (p.Gly210=) c.633C= (p.Gly211=) c.690C= (p.Gly230=) c.248C= c.900C= (p.Gly300=) c.759C= (p.Gly253=) c.756C= (p.Gly252=) c.681C= (p.Gly227=) c.729C= (p.Gly243=) c.663C= (p.Gly221=) c.825C= (p.Gly275=) c.711C= (p.Gly237=) c.708C= (p.Gly236=) c.822C= (p.Gly274=) c.678C= (p.Gly226=) c.897C= (p.Gly299=) c.807C= (p.Gly269=) | |
22 | g.35761263G>T | CA514339655 | RBFOX2 | c.813C>A (p.Gly271=) c.693C>A (p.Gly231=) c.*224C>A (n.*224C>A) c.*200C>A (n.*200C>A) c.*143C>A (n.*143C>A) c.903C>A (p.Gly301=) c.636C>A (p.Gly212=) c.630C>A (p.Gly210=) c.633C>A (p.Gly211=) c.690C>A (p.Gly230=) c.248C>A c.900C>A (p.Gly300=) c.759C>A (p.Gly253=) c.756C>A (p.Gly252=) c.681C>A (p.Gly227=) c.729C>A (p.Gly243=) c.663C>A (p.Gly221=) c.825C>A (p.Gly275=) c.711C>A (p.Gly237=) c.708C>A (p.Gly236=) c.822C>A (p.Gly274=) c.678C>A (p.Gly226=) c.897C>A (p.Gly299=) c.807C>A (p.Gly269=) | dbSNP |
22 | g.35761264C>A | CA411359063 | RBFOX2 | c.812G>T (p.Gly271Val) c.692G>T (p.Gly231Val) c.*223G>T (n.*223G>T) c.*199G>T (n.*199G>T) c.*142G>T (n.*142G>T) c.902G>T (p.Gly301Val) c.635G>T (p.Gly212Val) c.629G>T (p.Gly210Val) c.632G>T (p.Gly211Val) c.689G>T (p.Gly230Val) c.247G>T c.899G>T (p.Gly300Val) c.758G>T (p.Gly253Val) c.755G>T (p.Gly252Val) c.680G>T (p.Gly227Val) c.728G>T (p.Gly243Val) c.662G>T (p.Gly221Val) c.824G>T (p.Gly275Val) c.710G>T (p.Gly237Val) c.707G>T (p.Gly236Val) c.821G>T (p.Gly274Val) c.677G>T (p.Gly226Val) c.896G>T (p.Gly299Val) c.806G>T (p.Gly269Val) | |
22 | g.35761264C= | CA2403556527 | RBFOX2 | c.812G= (p.Gly271=) c.692G= (p.Gly231=) c.*223G= (n.*223G=) c.*199G= (n.*199G=) c.*142G= (n.*142G=) c.902G= (p.Gly301=) c.635G= (p.Gly212=) c.629G= (p.Gly210=) c.632G= (p.Gly211=) c.689G= (p.Gly230=) c.247G= c.899G= (p.Gly300=) c.758G= (p.Gly253=) c.755G= (p.Gly252=) c.680G= (p.Gly227=) c.728G= (p.Gly243=) c.662G= (p.Gly221=) c.824G= (p.Gly275=) c.710G= (p.Gly237=) c.707G= (p.Gly236=) c.821G= (p.Gly274=) c.677G= (p.Gly226=) c.896G= (p.Gly299=) c.806G= (p.Gly269=) | |
22 | g.35761264C>G | CA411359064 | RBFOX2 | c.812G>C (p.Gly271Ala) c.692G>C (p.Gly231Ala) c.*223G>C (n.*223G>C) c.*199G>C (n.*199G>C) c.*142G>C (n.*142G>C) c.902G>C (p.Gly301Ala) c.635G>C (p.Gly212Ala) c.629G>C (p.Gly210Ala) c.632G>C (p.Gly211Ala) c.689G>C (p.Gly230Ala) c.247G>C c.899G>C (p.Gly300Ala) c.758G>C (p.Gly253Ala) c.755G>C (p.Gly252Ala) c.680G>C (p.Gly227Ala) c.728G>C (p.Gly243Ala) c.662G>C (p.Gly221Ala) c.824G>C (p.Gly275Ala) c.710G>C (p.Gly237Ala) c.707G>C (p.Gly236Ala) c.821G>C (p.Gly274Ala) c.677G>C (p.Gly226Ala) c.896G>C (p.Gly299Ala) c.806G>C (p.Gly269Ala) | |
22 | g.35761264C>T | CA411359069 | RBFOX2 | c.812G>A (p.Gly271Asp) c.692G>A (p.Gly231Asp) c.*223G>A (n.*223G>A) c.*199G>A (n.*199G>A) c.*142G>A (n.*142G>A) c.902G>A (p.Gly301Asp) c.635G>A (p.Gly212Asp) c.629G>A (p.Gly210Asp) c.632G>A (p.Gly211Asp) c.689G>A (p.Gly230Asp) c.247G>A c.899G>A (p.Gly300Asp) c.758G>A (p.Gly253Asp) c.755G>A (p.Gly252Asp) c.680G>A (p.Gly227Asp) c.728G>A (p.Gly243Asp) c.662G>A (p.Gly221Asp) c.824G>A (p.Gly275Asp) c.710G>A (p.Gly237Asp) c.707G>A (p.Gly236Asp) c.821G>A (p.Gly274Asp) c.677G>A (p.Gly226Asp) c.896G>A (p.Gly299Asp) c.806G>A (p.Gly269Asp) | dbSNP |
22 | g.35761265C>A | CA411359074 | RBFOX2 | c.811G>T (p.Gly271Cys) c.691G>T (p.Gly231Cys) c.*222G>T (n.*222G>T) c.*198G>T (n.*198G>T) c.*141G>T (n.*141G>T) c.901G>T (p.Gly301Cys) c.634G>T (p.Gly212Cys) c.628G>T (p.Gly210Cys) c.631G>T (p.Gly211Cys) c.688G>T (p.Gly230Cys) c.246G>T c.898G>T (p.Gly300Cys) c.757G>T (p.Gly253Cys) c.754G>T (p.Gly252Cys) c.679G>T (p.Gly227Cys) c.727G>T (p.Gly243Cys) c.661G>T (p.Gly221Cys) c.823G>T (p.Gly275Cys) c.709G>T (p.Gly237Cys) c.706G>T (p.Gly236Cys) c.820G>T (p.Gly274Cys) c.676G>T (p.Gly226Cys) c.895G>T (p.Gly299Cys) c.805G>T (p.Gly269Cys) | |
22 | g.35761265C>G | CA411359076 | RBFOX2 | c.811G>C (p.Gly271Arg) c.691G>C (p.Gly231Arg) c.*222G>C (n.*222G>C) c.*198G>C (n.*198G>C) c.*141G>C (n.*141G>C) c.901G>C (p.Gly301Arg) c.634G>C (p.Gly212Arg) c.628G>C (p.Gly210Arg) c.631G>C (p.Gly211Arg) c.688G>C (p.Gly230Arg) c.246G>C c.898G>C (p.Gly300Arg) c.757G>C (p.Gly253Arg) c.754G>C (p.Gly252Arg) c.679G>C (p.Gly227Arg) c.727G>C (p.Gly243Arg) c.661G>C (p.Gly221Arg) c.823G>C (p.Gly275Arg) c.709G>C (p.Gly237Arg) c.706G>C (p.Gly236Arg) c.820G>C (p.Gly274Arg) c.676G>C (p.Gly226Arg) c.895G>C (p.Gly299Arg) c.805G>C (p.Gly269Arg) | |
22 | g.35761265C>T | CA411359078 | RBFOX2 | c.811G>A (p.Gly271Ser) c.691G>A (p.Gly231Ser) c.*222G>A (n.*222G>A) c.*198G>A (n.*198G>A) c.*141G>A (n.*141G>A) c.901G>A (p.Gly301Ser) c.634G>A (p.Gly212Ser) c.628G>A (p.Gly210Ser) c.631G>A (p.Gly211Ser) c.688G>A (p.Gly230Ser) c.246G>A c.898G>A (p.Gly300Ser) c.757G>A (p.Gly253Ser) c.754G>A (p.Gly252Ser) c.679G>A (p.Gly227Ser) c.727G>A (p.Gly243Ser) c.661G>A (p.Gly221Ser) c.823G>A (p.Gly275Ser) c.709G>A (p.Gly237Ser) c.706G>A (p.Gly236Ser) c.820G>A (p.Gly274Ser) c.676G>A (p.Gly226Ser) c.895G>A (p.Gly299Ser) c.805G>A (p.Gly269Ser) | |
22 | g.35761266T>A | CA514339656 | RBFOX2 | c.810A>T (p.Leu270=) c.690A>T (p.Leu230=) c.*221A>T (n.*221A>T) c.*197A>T (n.*197A>T) c.*140A>T (n.*140A>T) c.900A>T (p.Leu300=) c.633A>T (p.Leu211=) c.627A>T (p.Leu209=) c.630A>T (p.Leu210=) c.687A>T (p.Leu229=) c.245A>T c.897A>T (p.Leu299=) c.756A>T (p.Leu252=) c.753A>T (p.Leu251=) c.678A>T (p.Leu226=) c.726A>T (p.Leu242=) c.660A>T (p.Leu220=) c.822A>T (p.Leu274=) c.708A>T (p.Leu236=) c.705A>T (p.Leu235=) c.819A>T (p.Leu273=) c.675A>T (p.Leu225=) c.894A>T (p.Leu298=) c.804A>T (p.Leu268=) | |
22 | g.35761266T>C | CA514339657 | RBFOX2 | c.810A>G (p.Leu270=) c.690A>G (p.Leu230=) c.*221A>G (n.*221A>G) c.*197A>G (n.*197A>G) c.*140A>G (n.*140A>G) c.900A>G (p.Leu300=) c.633A>G (p.Leu211=) c.627A>G (p.Leu209=) c.630A>G (p.Leu210=) c.687A>G (p.Leu229=) c.245A>G c.897A>G (p.Leu299=) c.756A>G (p.Leu252=) c.753A>G (p.Leu251=) c.678A>G (p.Leu226=) c.726A>G (p.Leu242=) c.660A>G (p.Leu220=) c.822A>G (p.Leu274=) c.708A>G (p.Leu236=) c.705A>G (p.Leu235=) c.819A>G (p.Leu273=) c.675A>G (p.Leu225=) c.894A>G (p.Leu298=) c.804A>G (p.Leu268=) | |
22 | g.35761266T>G | CA514339658 | RBFOX2 | c.810A>C (p.Leu270=) c.690A>C (p.Leu230=) c.*221A>C (n.*221A>C) c.*197A>C (n.*197A>C) c.*140A>C (n.*140A>C) c.900A>C (p.Leu300=) c.633A>C (p.Leu211=) c.627A>C (p.Leu209=) c.630A>C (p.Leu210=) c.687A>C (p.Leu229=) c.245A>C c.897A>C (p.Leu299=) c.756A>C (p.Leu252=) c.753A>C (p.Leu251=) c.678A>C (p.Leu226=) c.726A>C (p.Leu242=) c.660A>C (p.Leu220=) c.822A>C (p.Leu274=) c.708A>C (p.Leu236=) c.705A>C (p.Leu235=) c.819A>C (p.Leu273=) c.675A>C (p.Leu225=) c.894A>C (p.Leu298=) c.804A>C (p.Leu268=) | |
22 | g.35761267A>C | CA411359083 | RBFOX2 | c.809T>G (p.Leu270Arg) c.689T>G (p.Leu230Arg) c.*220T>G (n.*220T>G) c.*196T>G (n.*196T>G) c.*139T>G (n.*139T>G) c.899T>G (p.Leu300Arg) c.632T>G (p.Leu211Arg) c.626T>G (p.Leu209Arg) c.629T>G (p.Leu210Arg) c.686T>G (p.Leu229Arg) c.244T>G c.896T>G (p.Leu299Arg) c.755T>G (p.Leu252Arg) c.752T>G (p.Leu251Arg) c.677T>G (p.Leu226Arg) c.725T>G (p.Leu242Arg) c.659T>G (p.Leu220Arg) c.821T>G (p.Leu274Arg) c.707T>G (p.Leu236Arg) c.704T>G (p.Leu235Arg) c.818T>G (p.Leu273Arg) c.674T>G (p.Leu225Arg) c.893T>G (p.Leu298Arg) c.803T>G (p.Leu268Arg) | |
22 | g.35761267A>G | CA411359089 | RBFOX2 | c.809T>C (p.Leu270Pro) c.689T>C (p.Leu230Pro) c.*220T>C (n.*220T>C) c.*196T>C (n.*196T>C) c.*139T>C (n.*139T>C) c.899T>C (p.Leu300Pro) c.632T>C (p.Leu211Pro) c.626T>C (p.Leu209Pro) c.629T>C (p.Leu210Pro) c.686T>C (p.Leu229Pro) c.244T>C c.896T>C (p.Leu299Pro) c.755T>C (p.Leu252Pro) c.752T>C (p.Leu251Pro) c.677T>C (p.Leu226Pro) c.725T>C (p.Leu242Pro) c.659T>C (p.Leu220Pro) c.821T>C (p.Leu274Pro) c.707T>C (p.Leu236Pro) c.704T>C (p.Leu235Pro) c.818T>C (p.Leu273Pro) c.674T>C (p.Leu225Pro) c.893T>C (p.Leu298Pro) c.803T>C (p.Leu268Pro) | |
22 | g.35761267A>T | CA411359081 | RBFOX2 | c.809T>A (p.Leu270Gln) c.689T>A (p.Leu230Gln) c.*220T>A (n.*220T>A) c.*196T>A (n.*196T>A) c.*139T>A (n.*139T>A) c.899T>A (p.Leu300Gln) c.632T>A (p.Leu211Gln) c.626T>A (p.Leu209Gln) c.629T>A (p.Leu210Gln) c.686T>A (p.Leu229Gln) c.244T>A c.896T>A (p.Leu299Gln) c.755T>A (p.Leu252Gln) c.752T>A (p.Leu251Gln) c.677T>A (p.Leu226Gln) c.725T>A (p.Leu242Gln) c.659T>A (p.Leu220Gln) c.821T>A (p.Leu274Gln) c.707T>A (p.Leu236Gln) c.704T>A (p.Leu235Gln) c.818T>A (p.Leu273Gln) c.674T>A (p.Leu225Gln) c.893T>A (p.Leu298Gln) c.803T>A (p.Leu268Gln) | |
22 | g.35761268G>A | CA514339659 | RBFOX2 | c.808C>T (p.Leu270=) c.688C>T (p.Leu230=) c.*219C>T (n.*219C>T) c.*195C>T (n.*195C>T) c.*138C>T (n.*138C>T) c.898C>T (p.Leu300=) c.631C>T (p.Leu211=) c.625C>T (p.Leu209=) c.628C>T (p.Leu210=) c.685C>T (p.Leu229=) c.243C>T c.895C>T (p.Leu299=) c.754C>T (p.Leu252=) c.751C>T (p.Leu251=) c.676C>T (p.Leu226=) c.724C>T (p.Leu242=) c.658C>T (p.Leu220=) c.820C>T (p.Leu274=) c.706C>T (p.Leu236=) c.703C>T (p.Leu235=) c.817C>T (p.Leu273=) c.673C>T (p.Leu225=) c.892C>T (p.Leu298=) c.802C>T (p.Leu268=) | |
22 | g.35761268G>C | CA411359091 | RBFOX2 | c.808C>G (p.Leu270Val) c.688C>G (p.Leu230Val) c.*219C>G (n.*219C>G) c.*195C>G (n.*195C>G) c.*138C>G (n.*138C>G) c.898C>G (p.Leu300Val) c.631C>G (p.Leu211Val) c.625C>G (p.Leu209Val) c.628C>G (p.Leu210Val) c.685C>G (p.Leu229Val) c.243C>G c.895C>G (p.Leu299Val) c.754C>G (p.Leu252Val) c.751C>G (p.Leu251Val) c.676C>G (p.Leu226Val) c.724C>G (p.Leu242Val) c.658C>G (p.Leu220Val) c.820C>G (p.Leu274Val) c.706C>G (p.Leu236Val) c.703C>G (p.Leu235Val) c.817C>G (p.Leu273Val) c.673C>G (p.Leu225Val) c.892C>G (p.Leu298Val) c.802C>G (p.Leu268Val) | dbSNP |
22 | g.35761268G= | CA2403556528 | RBFOX2 | c.808C= (p.Leu270=) c.688C= (p.Leu230=) c.*219C= (n.*219C=) c.*195C= (n.*195C=) c.*138C= (n.*138C=) c.898C= (p.Leu300=) c.631C= (p.Leu211=) c.625C= (p.Leu209=) c.628C= (p.Leu210=) c.685C= (p.Leu229=) c.243C= c.895C= (p.Leu299=) c.754C= (p.Leu252=) c.751C= (p.Leu251=) c.676C= (p.Leu226=) c.724C= (p.Leu242=) c.658C= (p.Leu220=) c.820C= (p.Leu274=) c.706C= (p.Leu236=) c.703C= (p.Leu235=) c.817C= (p.Leu273=) c.673C= (p.Leu225=) c.892C= (p.Leu298=) c.802C= (p.Leu268=) | |
22 | g.35761268G>T | CA411359112 | RBFOX2 | c.808C>A (p.Leu270Ile) c.688C>A (p.Leu230Ile) c.*219C>A (n.*219C>A) c.*195C>A (n.*195C>A) c.*138C>A (n.*138C>A) c.898C>A (p.Leu300Ile) c.631C>A (p.Leu211Ile) c.625C>A (p.Leu209Ile) c.628C>A (p.Leu210Ile) c.685C>A (p.Leu229Ile) c.243C>A c.895C>A (p.Leu299Ile) c.754C>A (p.Leu252Ile) c.751C>A (p.Leu251Ile) c.676C>A (p.Leu226Ile) c.724C>A (p.Leu242Ile) c.658C>A (p.Leu220Ile) c.820C>A (p.Leu274Ile) c.706C>A (p.Leu236Ile) c.703C>A (p.Leu235Ile) c.817C>A (p.Leu273Ile) c.673C>A (p.Leu225Ile) c.892C>A (p.Leu298Ile) c.802C>A (p.Leu268Ile) | |
22 | g.35761270dup | CA658793841 | RBFOX2 | c.808dup (p.Leu270ProfsTer4) c.688dup (p.Leu230ProfsTer4) c.*219dup (n.*219dup) c.*195dup (n.*195dup) c.*138dup (n.*138dup) c.898dup (p.Leu300ProfsTer4) c.631dup (p.Leu211ProfsTer4) c.625dup (p.Leu209ProfsTer4) c.628dup (p.Leu210ProfsTer4) c.685dup (p.Leu229ProfsTer4) c.243dup c.895dup (p.Leu299ProfsTer4) c.754dup (p.Leu252ProfsTer4) c.751dup (p.Leu251ProfsTer4) c.676dup (p.Leu226ProfsTer4) c.724dup (p.Leu242ProfsTer4) c.658dup (p.Leu220ProfsTer4) c.820dup (p.Leu274ProfsTer4) c.706dup (p.Leu236ProfsTer4) c.703dup (p.Leu235ProfsTer4) c.817dup (p.Leu273ProfsTer4) c.673dup (p.Leu225ProfsTer4) c.892dup (p.Leu298ProfsTer4) c.802dup (p.Leu268ProfsTer4) | |
22 | g.35761269G>A | CA10206827 | RBFOX2 | c.807C>T (p.Ser269=) c.687C>T (p.Ser229=) c.*218C>T (n.*218C>T) c.*194C>T (n.*194C>T) c.*137C>T (n.*137C>T) c.897C>T (p.Ser299=) c.630C>T (p.Ser210=) c.624C>T (p.Ser208=) c.627C>T (p.Ser209=) c.684C>T (p.Ser228=) c.242C>T c.894C>T (p.Ser298=) c.753C>T (p.Ser251=) c.750C>T (p.Ser250=) c.675C>T (p.Ser225=) c.723C>T (p.Ser241=) c.657C>T (p.Ser219=) c.819C>T (p.Ser273=) c.705C>T (p.Ser235=) c.702C>T (p.Ser234=) c.816C>T (p.Ser272=) c.672C>T (p.Ser224=) c.891C>T (p.Ser297=) c.801C>T (p.Ser267=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.35761269G>C | CA514339660 | RBFOX2 | c.807C>G (p.Ser269=) c.687C>G (p.Ser229=) c.*218C>G (n.*218C>G) c.*194C>G (n.*194C>G) c.*137C>G (n.*137C>G) c.897C>G (p.Ser299=) c.630C>G (p.Ser210=) c.624C>G (p.Ser208=) c.627C>G (p.Ser209=) c.684C>G (p.Ser228=) c.242C>G c.894C>G (p.Ser298=) c.753C>G (p.Ser251=) c.750C>G (p.Ser250=) c.675C>G (p.Ser225=) c.723C>G (p.Ser241=) c.657C>G (p.Ser219=) c.819C>G (p.Ser273=) c.705C>G (p.Ser235=) c.702C>G (p.Ser234=) c.816C>G (p.Ser272=) c.672C>G (p.Ser224=) c.891C>G (p.Ser297=) c.801C>G (p.Ser267=) | |
22 | g.35761269G= | CA2403556529 | RBFOX2 | c.807C= (p.Ser269=) c.687C= (p.Ser229=) c.*218C= (n.*218C=) c.*194C= (n.*194C=) c.*137C= (n.*137C=) c.897C= (p.Ser299=) c.630C= (p.Ser210=) c.624C= (p.Ser208=) c.627C= (p.Ser209=) c.684C= (p.Ser228=) c.242C= c.894C= (p.Ser298=) c.753C= (p.Ser251=) c.750C= (p.Ser250=) c.675C= (p.Ser225=) c.723C= (p.Ser241=) c.657C= (p.Ser219=) c.819C= (p.Ser273=) c.705C= (p.Ser235=) c.702C= (p.Ser234=) c.816C= (p.Ser272=) c.672C= (p.Ser224=) c.891C= (p.Ser297=) c.801C= (p.Ser267=) | |
22 | g.35761269G>T | CA514339661 | RBFOX2 | c.807C>A (p.Ser269=) c.687C>A (p.Ser229=) c.*218C>A (n.*218C>A) c.*194C>A (n.*194C>A) c.*137C>A (n.*137C>A) c.897C>A (p.Ser299=) c.630C>A (p.Ser210=) c.624C>A (p.Ser208=) c.627C>A (p.Ser209=) c.684C>A (p.Ser228=) c.242C>A c.894C>A (p.Ser298=) c.753C>A (p.Ser251=) c.750C>A (p.Ser250=) c.675C>A (p.Ser225=) c.723C>A (p.Ser241=) c.657C>A (p.Ser219=) c.819C>A (p.Ser273=) c.705C>A (p.Ser235=) c.702C>A (p.Ser234=) c.816C>A (p.Ser272=) c.672C>A (p.Ser224=) c.891C>A (p.Ser297=) c.801C>A (p.Ser267=) | |
22 | g.35761270G>A | CA411359116 | RBFOX2 | c.806C>T (p.Ser269Phe) c.686C>T (p.Ser229Phe) c.*217C>T (n.*217C>T) c.*193C>T (n.*193C>T) c.*136C>T (n.*136C>T) c.896C>T (p.Ser299Phe) c.629C>T (p.Ser210Phe) c.623C>T (p.Ser208Phe) c.626C>T (p.Ser209Phe) c.683C>T (p.Ser228Phe) c.241C>T c.893C>T (p.Ser298Phe) c.752C>T (p.Ser251Phe) c.749C>T (p.Ser250Phe) c.674C>T (p.Ser225Phe) c.722C>T (p.Ser241Phe) c.656C>T (p.Ser219Phe) c.818C>T (p.Ser273Phe) c.704C>T (p.Ser235Phe) c.701C>T (p.Ser234Phe) c.815C>T (p.Ser272Phe) c.671C>T (p.Ser224Phe) c.890C>T (p.Ser297Phe) c.800C>T (p.Ser267Phe) | |
22 | g.35761270G>C | CA411359118 | RBFOX2 | c.806C>G (p.Ser269Cys) c.686C>G (p.Ser229Cys) c.*217C>G (n.*217C>G) c.*193C>G (n.*193C>G) c.*136C>G (n.*136C>G) c.896C>G (p.Ser299Cys) c.629C>G (p.Ser210Cys) c.623C>G (p.Ser208Cys) c.626C>G (p.Ser209Cys) c.683C>G (p.Ser228Cys) c.241C>G c.893C>G (p.Ser298Cys) c.752C>G (p.Ser251Cys) c.749C>G (p.Ser250Cys) c.674C>G (p.Ser225Cys) c.722C>G (p.Ser241Cys) c.656C>G (p.Ser219Cys) c.818C>G (p.Ser273Cys) c.704C>G (p.Ser235Cys) c.701C>G (p.Ser234Cys) c.815C>G (p.Ser272Cys) c.671C>G (p.Ser224Cys) c.890C>G (p.Ser297Cys) c.800C>G (p.Ser267Cys) | |
22 | g.35761270G>T | CA411359123 | RBFOX2 | c.806C>A (p.Ser269Tyr) c.686C>A (p.Ser229Tyr) c.*217C>A (n.*217C>A) c.*193C>A (n.*193C>A) c.*136C>A (n.*136C>A) c.896C>A (p.Ser299Tyr) c.629C>A (p.Ser210Tyr) c.623C>A (p.Ser208Tyr) c.626C>A (p.Ser209Tyr) c.683C>A (p.Ser228Tyr) c.241C>A c.893C>A (p.Ser298Tyr) c.752C>A (p.Ser251Tyr) c.749C>A (p.Ser250Tyr) c.674C>A (p.Ser225Tyr) c.722C>A (p.Ser241Tyr) c.656C>A (p.Ser219Tyr) c.818C>A (p.Ser273Tyr) c.704C>A (p.Ser235Tyr) c.701C>A (p.Ser234Tyr) c.815C>A (p.Ser272Tyr) c.671C>A (p.Ser224Tyr) c.890C>A (p.Ser297Tyr) c.800C>A (p.Ser267Tyr) | |
22 | g.35761271A>C | CA411359130 | RBFOX2 | c.805T>G (p.Ser269Ala) c.685T>G (p.Ser229Ala) c.*216T>G (n.*216T>G) c.*192T>G (n.*192T>G) c.*135T>G (n.*135T>G) c.895T>G (p.Ser299Ala) c.628T>G (p.Ser210Ala) c.622T>G (p.Ser208Ala) c.625T>G (p.Ser209Ala) c.682T>G (p.Ser228Ala) c.240T>G c.892T>G (p.Ser298Ala) c.751T>G (p.Ser251Ala) c.748T>G (p.Ser250Ala) c.673T>G (p.Ser225Ala) c.721T>G (p.Ser241Ala) c.655T>G (p.Ser219Ala) c.817T>G (p.Ser273Ala) c.703T>G (p.Ser235Ala) c.700T>G (p.Ser234Ala) c.814T>G (p.Ser272Ala) c.670T>G (p.Ser224Ala) c.889T>G (p.Ser297Ala) c.799T>G (p.Ser267Ala) | |
22 | g.35761271A>G | CA411359139 | RBFOX2 | c.805T>C (p.Ser269Pro) c.685T>C (p.Ser229Pro) c.*216T>C (n.*216T>C) c.*192T>C (n.*192T>C) c.*135T>C (n.*135T>C) c.895T>C (p.Ser299Pro) c.628T>C (p.Ser210Pro) c.622T>C (p.Ser208Pro) c.625T>C (p.Ser209Pro) c.682T>C (p.Ser228Pro) c.240T>C c.892T>C (p.Ser298Pro) c.751T>C (p.Ser251Pro) c.748T>C (p.Ser250Pro) c.673T>C (p.Ser225Pro) c.721T>C (p.Ser241Pro) c.655T>C (p.Ser219Pro) c.817T>C (p.Ser273Pro) c.703T>C (p.Ser235Pro) c.700T>C (p.Ser234Pro) c.814T>C (p.Ser272Pro) c.670T>C (p.Ser224Pro) c.889T>C (p.Ser297Pro) c.799T>C (p.Ser267Pro) | |
22 | g.35761271A>T | CA411359136 | RBFOX2 | c.805T>A (p.Ser269Thr) c.685T>A (p.Ser229Thr) c.*216T>A (n.*216T>A) c.*192T>A (n.*192T>A) c.*135T>A (n.*135T>A) c.895T>A (p.Ser299Thr) c.628T>A (p.Ser210Thr) c.622T>A (p.Ser208Thr) c.625T>A (p.Ser209Thr) c.682T>A (p.Ser228Thr) c.240T>A c.892T>A (p.Ser298Thr) c.751T>A (p.Ser251Thr) c.748T>A (p.Ser250Thr) c.673T>A (p.Ser225Thr) c.721T>A (p.Ser241Thr) c.655T>A (p.Ser219Thr) c.817T>A (p.Ser273Thr) c.703T>A (p.Ser235Thr) c.700T>A (p.Ser234Thr) c.814T>A (p.Ser272Thr) c.670T>A (p.Ser224Thr) c.889T>A (p.Ser297Thr) c.799T>A (p.Ser267Thr) | |
22 | g.35761272C>A | CA514339662 | RBFOX2 | c.804G>T (p.Val268=) c.684G>T (p.Val228=) c.*215G>T (n.*215G>T) c.*191G>T (n.*191G>T) c.*134G>T (n.*134G>T) c.894G>T (p.Val298=) c.627G>T (p.Val209=) c.621G>T (p.Val207=) c.624G>T (p.Val208=) c.681G>T (p.Val227=) c.239G>T c.891G>T (p.Val297=) c.750G>T (p.Val250=) c.747G>T (p.Val249=) c.672G>T (p.Val224=) c.720G>T (p.Val240=) c.654G>T (p.Val218=) c.816G>T (p.Val272=) c.702G>T (p.Val234=) c.699G>T (p.Val233=) c.813G>T (p.Val271=) c.669G>T (p.Val223=) c.888G>T (p.Val296=) c.798G>T (p.Val266=) | |
22 | g.35761272C= | CA2403556530 | RBFOX2 | c.804G= (p.Val268=) c.684G= (p.Val228=) c.*215G= (n.*215G=) c.*191G= (n.*191G=) c.*134G= (n.*134G=) c.894G= (p.Val298=) c.627G= (p.Val209=) c.621G= (p.Val207=) c.624G= (p.Val208=) c.681G= (p.Val227=) c.239G= c.891G= (p.Val297=) c.750G= (p.Val250=) c.747G= (p.Val249=) c.672G= (p.Val224=) c.720G= (p.Val240=) c.654G= (p.Val218=) c.816G= (p.Val272=) c.702G= (p.Val234=) c.699G= (p.Val233=) c.813G= (p.Val271=) c.669G= (p.Val223=) c.888G= (p.Val296=) c.798G= (p.Val266=) | |
22 | g.35761272C>G | CA514339663 | RBFOX2 | c.804G>C (p.Val268=) c.684G>C (p.Val228=) c.*215G>C (n.*215G>C) c.*191G>C (n.*191G>C) c.*134G>C (n.*134G>C) c.894G>C (p.Val298=) c.627G>C (p.Val209=) c.621G>C (p.Val207=) c.624G>C (p.Val208=) c.681G>C (p.Val227=) c.239G>C c.891G>C (p.Val297=) c.750G>C (p.Val250=) c.747G>C (p.Val249=) c.672G>C (p.Val224=) c.720G>C (p.Val240=) c.654G>C (p.Val218=) c.816G>C (p.Val272=) c.702G>C (p.Val234=) c.699G>C (p.Val233=) c.813G>C (p.Val271=) c.669G>C (p.Val223=) c.888G>C (p.Val296=) c.798G>C (p.Val266=) | |
22 | g.35761272C>T | CA10206828 | RBFOX2 | c.804G>A (p.Val268=) c.684G>A (p.Val228=) c.*215G>A (n.*215G>A) c.*191G>A (n.*191G>A) c.*134G>A (n.*134G>A) c.894G>A (p.Val298=) c.627G>A (p.Val209=) c.621G>A (p.Val207=) c.624G>A (p.Val208=) c.681G>A (p.Val227=) c.239G>A c.891G>A (p.Val297=) c.750G>A (p.Val250=) c.747G>A (p.Val249=) c.672G>A (p.Val224=) c.720G>A (p.Val240=) c.654G>A (p.Val218=) c.816G>A (p.Val272=) c.702G>A (p.Val234=) c.699G>A (p.Val233=) c.813G>A (p.Val271=) c.669G>A (p.Val223=) c.888G>A (p.Val296=) c.798G>A (p.Val266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761273A= | CA2403556531 | RBFOX2 | c.803T= (p.Val268=) c.683T= (p.Val228=) c.*214T= (n.*214T=) c.*190T= (n.*190T=) c.*133T= (n.*133T=) c.893T= (p.Val298=) c.626T= (p.Val209=) c.620T= (p.Val207=) c.623T= (p.Val208=) c.680T= (p.Val227=) c.238T= c.890T= (p.Val297=) c.749T= (p.Val250=) c.746T= (p.Val249=) c.671T= (p.Val224=) c.719T= (p.Val240=) c.653T= (p.Val218=) c.815T= (p.Val272=) c.701T= (p.Val234=) c.698T= (p.Val233=) c.812T= (p.Val271=) c.668T= (p.Val223=) c.887T= (p.Val296=) c.797T= (p.Val266=) | |
22 | g.35761273A>C | CA411359143 | RBFOX2 | c.803T>G (p.Val268Gly) c.683T>G (p.Val228Gly) c.*214T>G (n.*214T>G) c.*190T>G (n.*190T>G) c.*133T>G (n.*133T>G) c.893T>G (p.Val298Gly) c.626T>G (p.Val209Gly) c.620T>G (p.Val207Gly) c.623T>G (p.Val208Gly) c.680T>G (p.Val227Gly) c.238T>G c.890T>G (p.Val297Gly) c.749T>G (p.Val250Gly) c.746T>G (p.Val249Gly) c.671T>G (p.Val224Gly) c.719T>G (p.Val240Gly) c.653T>G (p.Val218Gly) c.815T>G (p.Val272Gly) c.701T>G (p.Val234Gly) c.698T>G (p.Val233Gly) c.812T>G (p.Val271Gly) c.668T>G (p.Val223Gly) c.887T>G (p.Val296Gly) c.797T>G (p.Val266Gly) | |
22 | g.35761273A>G | CA411359145 | RBFOX2 | c.803T>C (p.Val268Ala) c.683T>C (p.Val228Ala) c.*214T>C (n.*214T>C) c.*190T>C (n.*190T>C) c.*133T>C (n.*133T>C) c.893T>C (p.Val298Ala) c.626T>C (p.Val209Ala) c.620T>C (p.Val207Ala) c.623T>C (p.Val208Ala) c.680T>C (p.Val227Ala) c.238T>C c.890T>C (p.Val297Ala) c.749T>C (p.Val250Ala) c.746T>C (p.Val249Ala) c.671T>C (p.Val224Ala) c.719T>C (p.Val240Ala) c.653T>C (p.Val218Ala) c.815T>C (p.Val272Ala) c.701T>C (p.Val234Ala) c.698T>C (p.Val233Ala) c.812T>C (p.Val271Ala) c.668T>C (p.Val223Ala) c.887T>C (p.Val296Ala) c.797T>C (p.Val266Ala) | dbSNP |
22 | g.35761273A>T | CA411359151 | RBFOX2 | c.803T>A (p.Val268Glu) c.683T>A (p.Val228Glu) c.*214T>A (n.*214T>A) c.*190T>A (n.*190T>A) c.*133T>A (n.*133T>A) c.893T>A (p.Val298Glu) c.626T>A (p.Val209Glu) c.620T>A (p.Val207Glu) c.623T>A (p.Val208Glu) c.680T>A (p.Val227Glu) c.238T>A c.890T>A (p.Val297Glu) c.749T>A (p.Val250Glu) c.746T>A (p.Val249Glu) c.671T>A (p.Val224Glu) c.719T>A (p.Val240Glu) c.653T>A (p.Val218Glu) c.815T>A (p.Val272Glu) c.701T>A (p.Val234Glu) c.698T>A (p.Val233Glu) c.812T>A (p.Val271Glu) c.668T>A (p.Val223Glu) c.887T>A (p.Val296Glu) c.797T>A (p.Val266Glu) | |
22 | g.35761274C>A | CA411359159 | RBFOX2 | c.802G>T (p.Val268Leu) c.682G>T (p.Val228Leu) c.*213G>T (n.*213G>T) c.*189G>T (n.*189G>T) c.*132G>T (n.*132G>T) c.892G>T (p.Val298Leu) c.625G>T (p.Val209Leu) c.619G>T (p.Val207Leu) c.622G>T (p.Val208Leu) c.679G>T (p.Val227Leu) c.237G>T c.889G>T (p.Val297Leu) c.748G>T (p.Val250Leu) c.745G>T (p.Val249Leu) c.670G>T (p.Val224Leu) c.718G>T (p.Val240Leu) c.652G>T (p.Val218Leu) c.814G>T (p.Val272Leu) c.700G>T (p.Val234Leu) c.697G>T (p.Val233Leu) c.811G>T (p.Val271Leu) c.667G>T (p.Val223Leu) c.886G>T (p.Val296Leu) c.796G>T (p.Val266Leu) | |
22 | g.35761274C>G | CA411359156 | RBFOX2 | c.802G>C (p.Val268Leu) c.682G>C (p.Val228Leu) c.*213G>C (n.*213G>C) c.*189G>C (n.*189G>C) c.*132G>C (n.*132G>C) c.892G>C (p.Val298Leu) c.625G>C (p.Val209Leu) c.619G>C (p.Val207Leu) c.622G>C (p.Val208Leu) c.679G>C (p.Val227Leu) c.237G>C c.889G>C (p.Val297Leu) c.748G>C (p.Val250Leu) c.745G>C (p.Val249Leu) c.670G>C (p.Val224Leu) c.718G>C (p.Val240Leu) c.652G>C (p.Val218Leu) c.814G>C (p.Val272Leu) c.700G>C (p.Val234Leu) c.697G>C (p.Val233Leu) c.811G>C (p.Val271Leu) c.667G>C (p.Val223Leu) c.886G>C (p.Val296Leu) c.796G>C (p.Val266Leu) | |
22 | g.35761274C>T | CA411359154 | RBFOX2 | c.802G>A (p.Val268Met) c.682G>A (p.Val228Met) c.*213G>A (n.*213G>A) c.*189G>A (n.*189G>A) c.*132G>A (n.*132G>A) c.892G>A (p.Val298Met) c.625G>A (p.Val209Met) c.619G>A (p.Val207Met) c.622G>A (p.Val208Met) c.679G>A (p.Val227Met) c.237G>A c.889G>A (p.Val297Met) c.748G>A (p.Val250Met) c.745G>A (p.Val249Met) c.670G>A (p.Val224Met) c.718G>A (p.Val240Met) c.652G>A (p.Val218Met) c.814G>A (p.Val272Met) c.700G>A (p.Val234Met) c.697G>A (p.Val233Met) c.811G>A (p.Val271Met) c.667G>A (p.Val223Met) c.886G>A (p.Val296Met) c.796G>A (p.Val266Met) | gnomAD v4 |
22 | g.35761275A>C | CA411359164 | RBFOX2 | c.801T>G (p.Asp267Glu) c.681T>G (p.Asp227Glu) c.*212T>G (n.*212T>G) c.*188T>G (n.*188T>G) c.*131T>G (n.*131T>G) c.891T>G (p.Asp297Glu) c.624T>G (p.Asp208Glu) c.618T>G (p.Asp206Glu) c.621T>G (p.Asp207Glu) c.678T>G (p.Asp226Glu) c.236T>G c.888T>G (p.Asp296Glu) c.747T>G (p.Asp249Glu) c.744T>G (p.Asp248Glu) c.669T>G (p.Asp223Glu) c.717T>G (p.Asp239Glu) c.651T>G (p.Asp217Glu) c.813T>G (p.Asp271Glu) c.699T>G (p.Asp233Glu) c.696T>G (p.Asp232Glu) c.810T>G (p.Asp270Glu) c.666T>G (p.Asp222Glu) c.885T>G (p.Asp295Glu) c.795T>G (p.Asp265Glu) | |
22 | g.35761275A>G | CA514339664 | RBFOX2 | c.801T>C (p.Asp267=) c.681T>C (p.Asp227=) c.*212T>C (n.*212T>C) c.*188T>C (n.*188T>C) c.*131T>C (n.*131T>C) c.891T>C (p.Asp297=) c.624T>C (p.Asp208=) c.618T>C (p.Asp206=) c.621T>C (p.Asp207=) c.678T>C (p.Asp226=) c.236T>C c.888T>C (p.Asp296=) c.747T>C (p.Asp249=) c.744T>C (p.Asp248=) c.669T>C (p.Asp223=) c.717T>C (p.Asp239=) c.651T>C (p.Asp217=) c.813T>C (p.Asp271=) c.699T>C (p.Asp233=) c.696T>C (p.Asp232=) c.810T>C (p.Asp270=) c.666T>C (p.Asp222=) c.885T>C (p.Asp295=) c.795T>C (p.Asp265=) | |
22 | g.35761275A>T | CA411359165 | RBFOX2 | c.801T>A (p.Asp267Glu) c.681T>A (p.Asp227Glu) c.*212T>A (n.*212T>A) c.*188T>A (n.*188T>A) c.*131T>A (n.*131T>A) c.891T>A (p.Asp297Glu) c.624T>A (p.Asp208Glu) c.618T>A (p.Asp206Glu) c.621T>A (p.Asp207Glu) c.678T>A (p.Asp226Glu) c.236T>A c.888T>A (p.Asp296Glu) c.747T>A (p.Asp249Glu) c.744T>A (p.Asp248Glu) c.669T>A (p.Asp223Glu) c.717T>A (p.Asp239Glu) c.651T>A (p.Asp217Glu) c.813T>A (p.Asp271Glu) c.699T>A (p.Asp233Glu) c.696T>A (p.Asp232Glu) c.810T>A (p.Asp270Glu) c.666T>A (p.Asp222Glu) c.885T>A (p.Asp295Glu) c.795T>A (p.Asp265Glu) | |
22 | g.35761276T>A | CA411359171 | RBFOX2 | c.800A>T (p.Asp267Val) c.680A>T (p.Asp227Val) c.*211A>T (n.*211A>T) c.*187A>T (n.*187A>T) c.*130A>T (n.*130A>T) c.890A>T (p.Asp297Val) c.623A>T (p.Asp208Val) c.617A>T (p.Asp206Val) c.620A>T (p.Asp207Val) c.677A>T (p.Asp226Val) c.235A>T c.887A>T (p.Asp296Val) c.746A>T (p.Asp249Val) c.743A>T (p.Asp248Val) c.668A>T (p.Asp223Val) c.716A>T (p.Asp239Val) c.650A>T (p.Asp217Val) c.812A>T (p.Asp271Val) c.698A>T (p.Asp233Val) c.695A>T (p.Asp232Val) c.809A>T (p.Asp270Val) c.665A>T (p.Asp222Val) c.884A>T (p.Asp295Val) c.794A>T (p.Asp265Val) | |
22 | g.35761276T>C | CA411359177 | RBFOX2 | c.800A>G (p.Asp267Gly) c.680A>G (p.Asp227Gly) c.*211A>G (n.*211A>G) c.*187A>G (n.*187A>G) c.*130A>G (n.*130A>G) c.890A>G (p.Asp297Gly) c.623A>G (p.Asp208Gly) c.617A>G (p.Asp206Gly) c.620A>G (p.Asp207Gly) c.677A>G (p.Asp226Gly) c.235A>G c.887A>G (p.Asp296Gly) c.746A>G (p.Asp249Gly) c.743A>G (p.Asp248Gly) c.668A>G (p.Asp223Gly) c.716A>G (p.Asp239Gly) c.650A>G (p.Asp217Gly) c.812A>G (p.Asp271Gly) c.698A>G (p.Asp233Gly) c.695A>G (p.Asp232Gly) c.809A>G (p.Asp270Gly) c.665A>G (p.Asp222Gly) c.884A>G (p.Asp295Gly) c.794A>G (p.Asp265Gly) | |
22 | g.35761276T>G | CA411359174 | RBFOX2 | c.800A>C (p.Asp267Ala) c.680A>C (p.Asp227Ala) c.*211A>C (n.*211A>C) c.*187A>C (n.*187A>C) c.*130A>C (n.*130A>C) c.890A>C (p.Asp297Ala) c.623A>C (p.Asp208Ala) c.617A>C (p.Asp206Ala) c.620A>C (p.Asp207Ala) c.677A>C (p.Asp226Ala) c.235A>C c.887A>C (p.Asp296Ala) c.746A>C (p.Asp249Ala) c.743A>C (p.Asp248Ala) c.668A>C (p.Asp223Ala) c.716A>C (p.Asp239Ala) c.650A>C (p.Asp217Ala) c.812A>C (p.Asp271Ala) c.698A>C (p.Asp233Ala) c.695A>C (p.Asp232Ala) c.809A>C (p.Asp270Ala) c.665A>C (p.Asp222Ala) c.884A>C (p.Asp295Ala) c.794A>C (p.Asp265Ala) | |
22 | g.35761277C>A | CA411359181 | RBFOX2 | c.799G>T (p.Asp267Tyr) c.679G>T (p.Asp227Tyr) c.*210G>T (n.*210G>T) c.*186G>T (n.*186G>T) c.*129G>T (n.*129G>T) c.889G>T (p.Asp297Tyr) c.622G>T (p.Asp208Tyr) c.616G>T (p.Asp206Tyr) c.619G>T (p.Asp207Tyr) c.676G>T (p.Asp226Tyr) c.234G>T c.886G>T (p.Asp296Tyr) c.745G>T (p.Asp249Tyr) c.742G>T (p.Asp248Tyr) c.667G>T (p.Asp223Tyr) c.715G>T (p.Asp239Tyr) c.649G>T (p.Asp217Tyr) c.811G>T (p.Asp271Tyr) c.697G>T (p.Asp233Tyr) c.694G>T (p.Asp232Tyr) c.808G>T (p.Asp270Tyr) c.664G>T (p.Asp222Tyr) c.883G>T (p.Asp295Tyr) c.793G>T (p.Asp265Tyr) | |
22 | g.35761277C>G | CA411359186 | RBFOX2 | c.799G>C (p.Asp267His) c.679G>C (p.Asp227His) c.*210G>C (n.*210G>C) c.*186G>C (n.*186G>C) c.*129G>C (n.*129G>C) c.889G>C (p.Asp297His) c.622G>C (p.Asp208His) c.616G>C (p.Asp206His) c.619G>C (p.Asp207His) c.676G>C (p.Asp226His) c.234G>C c.886G>C (p.Asp296His) c.745G>C (p.Asp249His) c.742G>C (p.Asp248His) c.667G>C (p.Asp223His) c.715G>C (p.Asp239His) c.649G>C (p.Asp217His) c.811G>C (p.Asp271His) c.697G>C (p.Asp233His) c.694G>C (p.Asp232His) c.808G>C (p.Asp270His) c.664G>C (p.Asp222His) c.883G>C (p.Asp295His) c.793G>C (p.Asp265His) | |
22 | g.35761277C>T | CA411359188 | RBFOX2 | c.799G>A (p.Asp267Asn) c.679G>A (p.Asp227Asn) c.*210G>A (n.*210G>A) c.*186G>A (n.*186G>A) c.*129G>A (n.*129G>A) c.889G>A (p.Asp297Asn) c.622G>A (p.Asp208Asn) c.616G>A (p.Asp206Asn) c.619G>A (p.Asp207Asn) c.676G>A (p.Asp226Asn) c.234G>A c.886G>A (p.Asp296Asn) c.745G>A (p.Asp249Asn) c.742G>A (p.Asp248Asn) c.667G>A (p.Asp223Asn) c.715G>A (p.Asp239Asn) c.649G>A (p.Asp217Asn) c.811G>A (p.Asp271Asn) c.697G>A (p.Asp233Asn) c.694G>A (p.Asp232Asn) c.808G>A (p.Asp270Asn) c.664G>A (p.Asp222Asn) c.883G>A (p.Asp295Asn) c.793G>A (p.Asp265Asn) | |
22 | g.35761278T>A | CA514339665 | RBFOX2 | c.798A>T (p.Ala266=) c.678A>T (p.Ala226=) c.*209A>T (n.*209A>T) c.*185A>T (n.*185A>T) c.*128A>T (n.*128A>T) c.888A>T (p.Ala296=) c.621A>T (p.Ala207=) c.615A>T (p.Ala205=) c.618A>T (p.Ala206=) c.675A>T (p.Ala225=) c.233A>T c.885A>T (p.Ala295=) c.744A>T (p.Ala248=) c.741A>T (p.Ala247=) c.666A>T (p.Ala222=) c.714A>T (p.Ala238=) c.648A>T (p.Ala216=) c.810A>T (p.Ala270=) c.696A>T (p.Ala232=) c.693A>T (p.Ala231=) c.807A>T (p.Ala269=) c.663A>T (p.Ala221=) c.882A>T (p.Ala294=) c.792A>T (p.Ala264=) | |
22 | g.35761278T>C | CA514339666 | RBFOX2 | c.798A>G (p.Ala266=) c.678A>G (p.Ala226=) c.*209A>G (n.*209A>G) c.*185A>G (n.*185A>G) c.*128A>G (n.*128A>G) c.888A>G (p.Ala296=) c.621A>G (p.Ala207=) c.615A>G (p.Ala205=) c.618A>G (p.Ala206=) c.675A>G (p.Ala225=) c.233A>G c.885A>G (p.Ala295=) c.744A>G (p.Ala248=) c.741A>G (p.Ala247=) c.666A>G (p.Ala222=) c.714A>G (p.Ala238=) c.648A>G (p.Ala216=) c.810A>G (p.Ala270=) c.696A>G (p.Ala232=) c.693A>G (p.Ala231=) c.807A>G (p.Ala269=) c.663A>G (p.Ala221=) c.882A>G (p.Ala294=) c.792A>G (p.Ala264=) | |
22 | g.35761278T>G | CA10206829 | RBFOX2 | c.798A>C (p.Ala266=) c.678A>C (p.Ala226=) c.*209A>C (n.*209A>C) c.*185A>C (n.*185A>C) c.*128A>C (n.*128A>C) c.888A>C (p.Ala296=) c.621A>C (p.Ala207=) c.615A>C (p.Ala205=) c.618A>C (p.Ala206=) c.675A>C (p.Ala225=) c.233A>C c.885A>C (p.Ala295=) c.744A>C (p.Ala248=) c.741A>C (p.Ala247=) c.666A>C (p.Ala222=) c.714A>C (p.Ala238=) c.648A>C (p.Ala216=) c.810A>C (p.Ala270=) c.696A>C (p.Ala232=) c.693A>C (p.Ala231=) c.807A>C (p.Ala269=) c.663A>C (p.Ala221=) c.882A>C (p.Ala294=) c.792A>C (p.Ala264=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761278T= | CA2403556532 | RBFOX2 | c.798A= (p.Ala266=) c.678A= (p.Ala226=) c.*209A= (n.*209A=) c.*185A= (n.*185A=) c.*128A= (n.*128A=) c.888A= (p.Ala296=) c.621A= (p.Ala207=) c.615A= (p.Ala205=) c.618A= (p.Ala206=) c.675A= (p.Ala225=) c.233A= c.885A= (p.Ala295=) c.744A= (p.Ala248=) c.741A= (p.Ala247=) c.666A= (p.Ala222=) c.714A= (p.Ala238=) c.648A= (p.Ala216=) c.810A= (p.Ala270=) c.696A= (p.Ala232=) c.693A= (p.Ala231=) c.807A= (p.Ala269=) c.663A= (p.Ala221=) c.882A= (p.Ala294=) c.792A= (p.Ala264=) | |
22 | g.35761279G>A | CA411359200 | RBFOX2 | c.797C>T (p.Ala266Val) c.677C>T (p.Ala226Val) c.*208C>T (n.*208C>T) c.*184C>T (n.*184C>T) c.*127C>T (n.*127C>T) c.887C>T (p.Ala296Val) c.620C>T (p.Ala207Val) c.614C>T (p.Ala205Val) c.617C>T (p.Ala206Val) c.674C>T (p.Ala225Val) c.232C>T c.884C>T (p.Ala295Val) c.743C>T (p.Ala248Val) c.740C>T (p.Ala247Val) c.665C>T (p.Ala222Val) c.713C>T (p.Ala238Val) c.647C>T (p.Ala216Val) c.809C>T (p.Ala270Val) c.695C>T (p.Ala232Val) c.692C>T (p.Ala231Val) c.806C>T (p.Ala269Val) c.662C>T (p.Ala221Val) c.881C>T (p.Ala294Val) c.791C>T (p.Ala264Val) | |
22 | g.35761279G>C | CA411359202 | RBFOX2 | c.797C>G (p.Ala266Gly) c.677C>G (p.Ala226Gly) c.*208C>G (n.*208C>G) c.*184C>G (n.*184C>G) c.*127C>G (n.*127C>G) c.887C>G (p.Ala296Gly) c.620C>G (p.Ala207Gly) c.614C>G (p.Ala205Gly) c.617C>G (p.Ala206Gly) c.674C>G (p.Ala225Gly) c.232C>G c.884C>G (p.Ala295Gly) c.743C>G (p.Ala248Gly) c.740C>G (p.Ala247Gly) c.665C>G (p.Ala222Gly) c.713C>G (p.Ala238Gly) c.647C>G (p.Ala216Gly) c.809C>G (p.Ala270Gly) c.695C>G (p.Ala232Gly) c.692C>G (p.Ala231Gly) c.806C>G (p.Ala269Gly) c.662C>G (p.Ala221Gly) c.881C>G (p.Ala294Gly) c.791C>G (p.Ala264Gly) | |
22 | g.35761279G>T | CA411359203 | RBFOX2 | c.797C>A (p.Ala266Glu) c.677C>A (p.Ala226Glu) c.*208C>A (n.*208C>A) c.*184C>A (n.*184C>A) c.*127C>A (n.*127C>A) c.887C>A (p.Ala296Glu) c.620C>A (p.Ala207Glu) c.614C>A (p.Ala205Glu) c.617C>A (p.Ala206Glu) c.674C>A (p.Ala225Glu) c.232C>A c.884C>A (p.Ala295Glu) c.743C>A (p.Ala248Glu) c.740C>A (p.Ala247Glu) c.665C>A (p.Ala222Glu) c.713C>A (p.Ala238Glu) c.647C>A (p.Ala216Glu) c.809C>A (p.Ala270Glu) c.695C>A (p.Ala232Glu) c.692C>A (p.Ala231Glu) c.806C>A (p.Ala269Glu) c.662C>A (p.Ala221Glu) c.881C>A (p.Ala294Glu) c.791C>A (p.Ala264Glu) | |
22 | g.35761280C>A | CA411359205 | RBFOX2 | c.796G>T (p.Ala266Ser) c.676G>T (p.Ala226Ser) c.*207G>T (n.*207G>T) c.*183G>T (n.*183G>T) c.*126G>T (n.*126G>T) c.886G>T (p.Ala296Ser) c.619G>T (p.Ala207Ser) c.613G>T (p.Ala205Ser) c.616G>T (p.Ala206Ser) c.673G>T (p.Ala225Ser) c.231G>T c.883G>T (p.Ala295Ser) c.742G>T (p.Ala248Ser) c.739G>T (p.Ala247Ser) c.664G>T (p.Ala222Ser) c.712G>T (p.Ala238Ser) c.646G>T (p.Ala216Ser) c.808G>T (p.Ala270Ser) c.694G>T (p.Ala232Ser) c.691G>T (p.Ala231Ser) c.805G>T (p.Ala269Ser) c.661G>T (p.Ala221Ser) c.880G>T (p.Ala294Ser) c.790G>T (p.Ala264Ser) | |
22 | g.35761280C>G | CA411359208 | RBFOX2 | c.796G>C (p.Ala266Pro) c.676G>C (p.Ala226Pro) c.*207G>C (n.*207G>C) c.*183G>C (n.*183G>C) c.*126G>C (n.*126G>C) c.886G>C (p.Ala296Pro) c.619G>C (p.Ala207Pro) c.613G>C (p.Ala205Pro) c.616G>C (p.Ala206Pro) c.673G>C (p.Ala225Pro) c.231G>C c.883G>C (p.Ala295Pro) c.742G>C (p.Ala248Pro) c.739G>C (p.Ala247Pro) c.664G>C (p.Ala222Pro) c.712G>C (p.Ala238Pro) c.646G>C (p.Ala216Pro) c.808G>C (p.Ala270Pro) c.694G>C (p.Ala232Pro) c.691G>C (p.Ala231Pro) c.805G>C (p.Ala269Pro) c.661G>C (p.Ala221Pro) c.880G>C (p.Ala294Pro) c.790G>C (p.Ala264Pro) | |
22 | g.35761280C>T | CA411359210 | RBFOX2 | c.796G>A (p.Ala266Thr) c.676G>A (p.Ala226Thr) c.*207G>A (n.*207G>A) c.*183G>A (n.*183G>A) c.*126G>A (n.*126G>A) c.886G>A (p.Ala296Thr) c.619G>A (p.Ala207Thr) c.613G>A (p.Ala205Thr) c.616G>A (p.Ala206Thr) c.673G>A (p.Ala225Thr) c.231G>A c.883G>A (p.Ala295Thr) c.742G>A (p.Ala248Thr) c.739G>A (p.Ala247Thr) c.664G>A (p.Ala222Thr) c.712G>A (p.Ala238Thr) c.646G>A (p.Ala216Thr) c.808G>A (p.Ala270Thr) c.694G>A (p.Ala232Thr) c.691G>A (p.Ala231Thr) c.805G>A (p.Ala269Thr) c.661G>A (p.Ala221Thr) c.880G>A (p.Ala294Thr) c.790G>A (p.Ala264Thr) | |
22 | g.35761281T>A | CA411359217 | RBFOX2 | c.795A>T (p.Gln265His) c.675A>T (p.Gln225His) c.*206A>T (n.*206A>T) c.*182A>T (n.*182A>T) c.*125A>T (n.*125A>T) c.885A>T (p.Gln295His) c.618A>T (p.Gln206His) c.612A>T (p.Gln204His) c.615A>T (p.Gln205His) c.672A>T (p.Gln224His) c.230A>T c.882A>T (p.Gln294His) c.741A>T (p.Gln247His) c.738A>T (p.Gln246His) c.663A>T (p.Gln221His) c.711A>T (p.Gln237His) c.645A>T (p.Gln215His) c.807A>T (p.Gln269His) c.693A>T (p.Gln231His) c.690A>T (p.Gln230His) c.804A>T (p.Gln268His) c.660A>T (p.Gln220His) c.879A>T (p.Gln293His) c.789A>T (p.Gln263His) | |
22 | g.35761281T>C | CA514339668 | RBFOX2 | c.795A>G (p.Gln265=) c.675A>G (p.Gln225=) c.*206A>G (n.*206A>G) c.*182A>G (n.*182A>G) c.*125A>G (n.*125A>G) c.885A>G (p.Gln295=) c.618A>G (p.Gln206=) c.612A>G (p.Gln204=) c.615A>G (p.Gln205=) c.672A>G (p.Gln224=) c.230A>G c.882A>G (p.Gln294=) c.741A>G (p.Gln247=) c.738A>G (p.Gln246=) c.663A>G (p.Gln221=) c.711A>G (p.Gln237=) c.645A>G (p.Gln215=) c.807A>G (p.Gln269=) c.693A>G (p.Gln231=) c.690A>G (p.Gln230=) c.804A>G (p.Gln268=) c.660A>G (p.Gln220=) c.879A>G (p.Gln293=) c.789A>G (p.Gln263=) | |
22 | g.35761281T>G | CA411359220 | RBFOX2 | c.795A>C (p.Gln265His) c.675A>C (p.Gln225His) c.*206A>C (n.*206A>C) c.*182A>C (n.*182A>C) c.*125A>C (n.*125A>C) c.885A>C (p.Gln295His) c.618A>C (p.Gln206His) c.612A>C (p.Gln204His) c.615A>C (p.Gln205His) c.672A>C (p.Gln224His) c.230A>C c.882A>C (p.Gln294His) c.741A>C (p.Gln247His) c.738A>C (p.Gln246His) c.663A>C (p.Gln221His) c.711A>C (p.Gln237His) c.645A>C (p.Gln215His) c.807A>C (p.Gln269His) c.693A>C (p.Gln231His) c.690A>C (p.Gln230His) c.804A>C (p.Gln268His) c.660A>C (p.Gln220His) c.879A>C (p.Gln293His) c.789A>C (p.Gln263His) | |
22 | g.35761282T>A | CA411359228 | RBFOX2 | c.794A>T (p.Gln265Leu) c.674A>T (p.Gln225Leu) c.*205A>T (n.*205A>T) c.*181A>T (n.*181A>T) c.*124A>T (n.*124A>T) c.884A>T (p.Gln295Leu) c.617A>T (p.Gln206Leu) c.611A>T (p.Gln204Leu) c.614A>T (p.Gln205Leu) c.671A>T (p.Gln224Leu) c.229A>T c.881A>T (p.Gln294Leu) c.740A>T (p.Gln247Leu) c.737A>T (p.Gln246Leu) c.662A>T (p.Gln221Leu) c.710A>T (p.Gln237Leu) c.644A>T (p.Gln215Leu) c.806A>T (p.Gln269Leu) c.692A>T (p.Gln231Leu) c.689A>T (p.Gln230Leu) c.803A>T (p.Gln268Leu) c.659A>T (p.Gln220Leu) c.878A>T (p.Gln293Leu) c.788A>T (p.Gln263Leu) | |
22 | g.35761282T>C | CA411359225 | RBFOX2 | c.794A>G (p.Gln265Arg) c.674A>G (p.Gln225Arg) c.*205A>G (n.*205A>G) c.*181A>G (n.*181A>G) c.*124A>G (n.*124A>G) c.884A>G (p.Gln295Arg) c.617A>G (p.Gln206Arg) c.611A>G (p.Gln204Arg) c.614A>G (p.Gln205Arg) c.671A>G (p.Gln224Arg) c.229A>G c.881A>G (p.Gln294Arg) c.740A>G (p.Gln247Arg) c.737A>G (p.Gln246Arg) c.662A>G (p.Gln221Arg) c.710A>G (p.Gln237Arg) c.644A>G (p.Gln215Arg) c.806A>G (p.Gln269Arg) c.692A>G (p.Gln231Arg) c.689A>G (p.Gln230Arg) c.803A>G (p.Gln268Arg) c.659A>G (p.Gln220Arg) c.878A>G (p.Gln293Arg) c.788A>G (p.Gln263Arg) | |
22 | g.35761282T>G | CA411359226 | RBFOX2 | c.794A>C (p.Gln265Pro) c.674A>C (p.Gln225Pro) c.*205A>C (n.*205A>C) c.*181A>C (n.*181A>C) c.*124A>C (n.*124A>C) c.884A>C (p.Gln295Pro) c.617A>C (p.Gln206Pro) c.611A>C (p.Gln204Pro) c.614A>C (p.Gln205Pro) c.671A>C (p.Gln224Pro) c.229A>C c.881A>C (p.Gln294Pro) c.740A>C (p.Gln247Pro) c.737A>C (p.Gln246Pro) c.662A>C (p.Gln221Pro) c.710A>C (p.Gln237Pro) c.644A>C (p.Gln215Pro) c.806A>C (p.Gln269Pro) c.692A>C (p.Gln231Pro) c.689A>C (p.Gln230Pro) c.803A>C (p.Gln268Pro) c.659A>C (p.Gln220Pro) c.878A>C (p.Gln293Pro) c.788A>C (p.Gln263Pro) | |
22 | g.35761283G>A | CA411359230 | RBFOX2 | c.793C>T (p.Gln265Ter) c.673C>T (p.Gln225Ter) c.*204C>T (n.*204C>T) c.*180C>T (n.*180C>T) c.*123C>T (n.*123C>T) c.883C>T (p.Gln295Ter) c.616C>T (p.Gln206Ter) c.610C>T (p.Gln204Ter) c.613C>T (p.Gln205Ter) c.670C>T (p.Gln224Ter) c.228C>T c.880C>T (p.Gln294Ter) c.739C>T (p.Gln247Ter) c.736C>T (p.Gln246Ter) c.661C>T (p.Gln221Ter) c.709C>T (p.Gln237Ter) c.643C>T (p.Gln215Ter) c.805C>T (p.Gln269Ter) c.691C>T (p.Gln231Ter) c.688C>T (p.Gln230Ter) c.802C>T (p.Gln268Ter) c.658C>T (p.Gln220Ter) c.877C>T (p.Gln293Ter) c.787C>T (p.Gln263Ter) | COSMIC COSMIC |
22 | g.35761283G>C | CA411359244 | RBFOX2 | c.793C>G (p.Gln265Glu) c.673C>G (p.Gln225Glu) c.*204C>G (n.*204C>G) c.*180C>G (n.*180C>G) c.*123C>G (n.*123C>G) c.883C>G (p.Gln295Glu) c.616C>G (p.Gln206Glu) c.610C>G (p.Gln204Glu) c.613C>G (p.Gln205Glu) c.670C>G (p.Gln224Glu) c.228C>G c.880C>G (p.Gln294Glu) c.739C>G (p.Gln247Glu) c.736C>G (p.Gln246Glu) c.661C>G (p.Gln221Glu) c.709C>G (p.Gln237Glu) c.643C>G (p.Gln215Glu) c.805C>G (p.Gln269Glu) c.691C>G (p.Gln231Glu) c.688C>G (p.Gln230Glu) c.802C>G (p.Gln268Glu) c.658C>G (p.Gln220Glu) c.877C>G (p.Gln293Glu) c.787C>G (p.Gln263Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761283G= | CA2403556533 | RBFOX2 | c.793C= (p.Gln265=) c.673C= (p.Gln225=) c.*204C= (n.*204C=) c.*180C= (n.*180C=) c.*123C= (n.*123C=) c.883C= (p.Gln295=) c.616C= (p.Gln206=) c.610C= (p.Gln204=) c.613C= (p.Gln205=) c.670C= (p.Gln224=) c.228C= c.880C= (p.Gln294=) c.739C= (p.Gln247=) c.736C= (p.Gln246=) c.661C= (p.Gln221=) c.709C= (p.Gln237=) c.643C= (p.Gln215=) c.805C= (p.Gln269=) c.691C= (p.Gln231=) c.688C= (p.Gln230=) c.802C= (p.Gln268=) c.658C= (p.Gln220=) c.877C= (p.Gln293=) c.787C= (p.Gln263=) | |
22 | g.35761283G>T | CA411359246 | RBFOX2 | c.793C>A (p.Gln265Lys) c.673C>A (p.Gln225Lys) c.*204C>A (n.*204C>A) c.*180C>A (n.*180C>A) c.*123C>A (n.*123C>A) c.883C>A (p.Gln295Lys) c.616C>A (p.Gln206Lys) c.610C>A (p.Gln204Lys) c.613C>A (p.Gln205Lys) c.670C>A (p.Gln224Lys) c.228C>A c.880C>A (p.Gln294Lys) c.739C>A (p.Gln247Lys) c.736C>A (p.Gln246Lys) c.661C>A (p.Gln221Lys) c.709C>A (p.Gln237Lys) c.643C>A (p.Gln215Lys) c.805C>A (p.Gln269Lys) c.691C>A (p.Gln231Lys) c.688C>A (p.Gln230Lys) c.802C>A (p.Gln268Lys) c.658C>A (p.Gln220Lys) c.877C>A (p.Gln293Lys) c.787C>A (p.Gln263Lys) | |
22 | g.35761284A>C | CA411359251 | RBFOX2 | c.792T>G (p.Phe264Leu) c.672T>G (p.Phe224Leu) c.*203T>G (n.*203T>G) c.*179T>G (n.*179T>G) c.*122T>G (n.*122T>G) c.882T>G (p.Phe294Leu) c.615T>G (p.Phe205Leu) c.609T>G (p.Phe203Leu) c.612T>G (p.Phe204Leu) c.669T>G (p.Phe223Leu) c.227T>G c.879T>G (p.Phe293Leu) c.738T>G (p.Phe246Leu) c.735T>G (p.Phe245Leu) c.660T>G (p.Phe220Leu) c.708T>G (p.Phe236Leu) c.642T>G (p.Phe214Leu) c.804T>G (p.Phe268Leu) c.690T>G (p.Phe230Leu) c.687T>G (p.Phe229Leu) c.801T>G (p.Phe267Leu) c.657T>G (p.Phe219Leu) c.876T>G (p.Phe292Leu) c.786T>G (p.Phe262Leu) | |
22 | g.35761284A>G | CA514339669 | RBFOX2 | c.792T>C (p.Phe264=) c.672T>C (p.Phe224=) c.*203T>C (n.*203T>C) c.*179T>C (n.*179T>C) c.*122T>C (n.*122T>C) c.882T>C (p.Phe294=) c.615T>C (p.Phe205=) c.609T>C (p.Phe203=) c.612T>C (p.Phe204=) c.669T>C (p.Phe223=) c.227T>C c.879T>C (p.Phe293=) c.738T>C (p.Phe246=) c.735T>C (p.Phe245=) c.660T>C (p.Phe220=) c.708T>C (p.Phe236=) c.642T>C (p.Phe214=) c.804T>C (p.Phe268=) c.690T>C (p.Phe230=) c.687T>C (p.Phe229=) c.801T>C (p.Phe267=) c.657T>C (p.Phe219=) c.876T>C (p.Phe292=) c.786T>C (p.Phe262=) | gnomAD v4 |
22 | g.35761284A>T | CA411359254 | RBFOX2 | c.792T>A (p.Phe264Leu) c.672T>A (p.Phe224Leu) c.*203T>A (n.*203T>A) c.*179T>A (n.*179T>A) c.*122T>A (n.*122T>A) c.882T>A (p.Phe294Leu) c.615T>A (p.Phe205Leu) c.609T>A (p.Phe203Leu) c.612T>A (p.Phe204Leu) c.669T>A (p.Phe223Leu) c.227T>A c.879T>A (p.Phe293Leu) c.738T>A (p.Phe246Leu) c.735T>A (p.Phe245Leu) c.660T>A (p.Phe220Leu) c.708T>A (p.Phe236Leu) c.642T>A (p.Phe214Leu) c.804T>A (p.Phe268Leu) c.690T>A (p.Phe230Leu) c.687T>A (p.Phe229Leu) c.801T>A (p.Phe267Leu) c.657T>A (p.Phe219Leu) c.876T>A (p.Phe292Leu) c.786T>A (p.Phe262Leu) | |
22 | g.35761285A>C | CA411359257 | RBFOX2 | c.791T>G (p.Phe264Cys) c.671T>G (p.Phe224Cys) c.*202T>G (n.*202T>G) c.*178T>G (n.*178T>G) c.*121T>G (n.*121T>G) c.881T>G (p.Phe294Cys) c.614T>G (p.Phe205Cys) c.608T>G (p.Phe203Cys) c.611T>G (p.Phe204Cys) c.668T>G (p.Phe223Cys) c.226T>G c.878T>G (p.Phe293Cys) c.737T>G (p.Phe246Cys) c.734T>G (p.Phe245Cys) c.659T>G (p.Phe220Cys) c.707T>G (p.Phe236Cys) c.641T>G (p.Phe214Cys) c.803T>G (p.Phe268Cys) c.689T>G (p.Phe230Cys) c.686T>G (p.Phe229Cys) c.800T>G (p.Phe267Cys) c.656T>G (p.Phe219Cys) c.875T>G (p.Phe292Cys) c.785T>G (p.Phe262Cys) | |
22 | g.35761285A>G | CA411359261 | RBFOX2 | c.791T>C (p.Phe264Ser) c.671T>C (p.Phe224Ser) c.*202T>C (n.*202T>C) c.*178T>C (n.*178T>C) c.*121T>C (n.*121T>C) c.881T>C (p.Phe294Ser) c.614T>C (p.Phe205Ser) c.608T>C (p.Phe203Ser) c.611T>C (p.Phe204Ser) c.668T>C (p.Phe223Ser) c.226T>C c.878T>C (p.Phe293Ser) c.737T>C (p.Phe246Ser) c.734T>C (p.Phe245Ser) c.659T>C (p.Phe220Ser) c.707T>C (p.Phe236Ser) c.641T>C (p.Phe214Ser) c.803T>C (p.Phe268Ser) c.689T>C (p.Phe230Ser) c.686T>C (p.Phe229Ser) c.800T>C (p.Phe267Ser) c.656T>C (p.Phe219Ser) c.875T>C (p.Phe292Ser) c.785T>C (p.Phe262Ser) | |
22 | g.35761285A>T | CA411359267 | RBFOX2 | c.791T>A (p.Phe264Tyr) c.671T>A (p.Phe224Tyr) c.*202T>A (n.*202T>A) c.*178T>A (n.*178T>A) c.*121T>A (n.*121T>A) c.881T>A (p.Phe294Tyr) c.614T>A (p.Phe205Tyr) c.608T>A (p.Phe203Tyr) c.611T>A (p.Phe204Tyr) c.668T>A (p.Phe223Tyr) c.226T>A c.878T>A (p.Phe293Tyr) c.737T>A (p.Phe246Tyr) c.734T>A (p.Phe245Tyr) c.659T>A (p.Phe220Tyr) c.707T>A (p.Phe236Tyr) c.641T>A (p.Phe214Tyr) c.803T>A (p.Phe268Tyr) c.689T>A (p.Phe230Tyr) c.686T>A (p.Phe229Tyr) c.800T>A (p.Phe267Tyr) c.656T>A (p.Phe219Tyr) c.875T>A (p.Phe292Tyr) c.785T>A (p.Phe262Tyr) | |
22 | g.35761286A>C | CA411359278 | RBFOX2 | c.790T>G (p.Phe264Val) c.670T>G (p.Phe224Val) c.*201T>G (n.*201T>G) c.*177T>G (n.*177T>G) c.*120T>G (n.*120T>G) c.880T>G (p.Phe294Val) c.613T>G (p.Phe205Val) c.607T>G (p.Phe203Val) c.610T>G (p.Phe204Val) c.667T>G (p.Phe223Val) c.225T>G c.877T>G (p.Phe293Val) c.736T>G (p.Phe246Val) c.733T>G (p.Phe245Val) c.658T>G (p.Phe220Val) c.706T>G (p.Phe236Val) c.640T>G (p.Phe214Val) c.802T>G (p.Phe268Val) c.688T>G (p.Phe230Val) c.685T>G (p.Phe229Val) c.799T>G (p.Phe267Val) c.655T>G (p.Phe219Val) c.874T>G (p.Phe292Val) c.784T>G (p.Phe262Val) | |
22 | g.35761286A>G | CA411359284 | RBFOX2 | c.790T>C (p.Phe264Leu) c.670T>C (p.Phe224Leu) c.*201T>C (n.*201T>C) c.*177T>C (n.*177T>C) c.*120T>C (n.*120T>C) c.880T>C (p.Phe294Leu) c.613T>C (p.Phe205Leu) c.607T>C (p.Phe203Leu) c.610T>C (p.Phe204Leu) c.667T>C (p.Phe223Leu) c.225T>C c.877T>C (p.Phe293Leu) c.736T>C (p.Phe246Leu) c.733T>C (p.Phe245Leu) c.658T>C (p.Phe220Leu) c.706T>C (p.Phe236Leu) c.640T>C (p.Phe214Leu) c.802T>C (p.Phe268Leu) c.688T>C (p.Phe230Leu) c.685T>C (p.Phe229Leu) c.799T>C (p.Phe267Leu) c.655T>C (p.Phe219Leu) c.874T>C (p.Phe292Leu) c.784T>C (p.Phe262Leu) | |
22 | g.35761286A>T | CA411359287 | RBFOX2 | c.790T>A (p.Phe264Ile) c.670T>A (p.Phe224Ile) c.*201T>A (n.*201T>A) c.*177T>A (n.*177T>A) c.*120T>A (n.*120T>A) c.880T>A (p.Phe294Ile) c.613T>A (p.Phe205Ile) c.607T>A (p.Phe203Ile) c.610T>A (p.Phe204Ile) c.667T>A (p.Phe223Ile) c.225T>A c.877T>A (p.Phe293Ile) c.736T>A (p.Phe246Ile) c.733T>A (p.Phe245Ile) c.658T>A (p.Phe220Ile) c.706T>A (p.Phe236Ile) c.640T>A (p.Phe214Ile) c.802T>A (p.Phe268Ile) c.688T>A (p.Phe230Ile) c.685T>A (p.Phe229Ile) c.799T>A (p.Phe267Ile) c.655T>A (p.Phe219Ile) c.874T>A (p.Phe292Ile) c.784T>A (p.Phe262Ile) | |
22 | g.35761287G>A | CA514339670 | RBFOX2 | c.789C>T (p.Ser263=) c.669C>T (p.Ser223=) c.*200C>T (n.*200C>T) c.*176C>T (n.*176C>T) c.*119C>T (n.*119C>T) c.879C>T (p.Ser293=) c.612C>T (p.Ser204=) c.606C>T (p.Ser202=) c.609C>T (p.Ser203=) c.666C>T (p.Ser222=) c.224C>T c.876C>T (p.Ser292=) c.735C>T (p.Ser245=) c.732C>T (p.Ser244=) c.657C>T (p.Ser219=) c.705C>T (p.Ser235=) c.639C>T (p.Ser213=) c.801C>T (p.Ser267=) c.687C>T (p.Ser229=) c.684C>T (p.Ser228=) c.798C>T (p.Ser266=) c.654C>T (p.Ser218=) c.873C>T (p.Ser291=) c.783C>T (p.Ser261=) | gnomAD v4 |
22 | g.35761287G>C | CA411359295 | RBFOX2 | c.789C>G (p.Ser263Arg) c.669C>G (p.Ser223Arg) c.*200C>G (n.*200C>G) c.*176C>G (n.*176C>G) c.*119C>G (n.*119C>G) c.879C>G (p.Ser293Arg) c.612C>G (p.Ser204Arg) c.606C>G (p.Ser202Arg) c.609C>G (p.Ser203Arg) c.666C>G (p.Ser222Arg) c.224C>G c.876C>G (p.Ser292Arg) c.735C>G (p.Ser245Arg) c.732C>G (p.Ser244Arg) c.657C>G (p.Ser219Arg) c.705C>G (p.Ser235Arg) c.639C>G (p.Ser213Arg) c.801C>G (p.Ser267Arg) c.687C>G (p.Ser229Arg) c.684C>G (p.Ser228Arg) c.798C>G (p.Ser266Arg) c.654C>G (p.Ser218Arg) c.873C>G (p.Ser291Arg) c.783C>G (p.Ser261Arg) | gnomAD v4 |
22 | g.35761287G>T | CA411359292 | RBFOX2 | c.789C>A (p.Ser263Arg) c.669C>A (p.Ser223Arg) c.*200C>A (n.*200C>A) c.*176C>A (n.*176C>A) c.*119C>A (n.*119C>A) c.879C>A (p.Ser293Arg) c.612C>A (p.Ser204Arg) c.606C>A (p.Ser202Arg) c.609C>A (p.Ser203Arg) c.666C>A (p.Ser222Arg) c.224C>A c.876C>A (p.Ser292Arg) c.735C>A (p.Ser245Arg) c.732C>A (p.Ser244Arg) c.657C>A (p.Ser219Arg) c.705C>A (p.Ser235Arg) c.639C>A (p.Ser213Arg) c.801C>A (p.Ser267Arg) c.687C>A (p.Ser229Arg) c.684C>A (p.Ser228Arg) c.798C>A (p.Ser266Arg) c.654C>A (p.Ser218Arg) c.873C>A (p.Ser291Arg) c.783C>A (p.Ser261Arg) | gnomAD v4 |
22 | g.35761288C>A | CA411359306 | RBFOX2 | c.788G>T (p.Ser263Ile) c.668G>T (p.Ser223Ile) c.*199G>T (n.*199G>T) c.*175G>T (n.*175G>T) c.*118G>T (n.*118G>T) c.878G>T (p.Ser293Ile) c.611G>T (p.Ser204Ile) c.605G>T (p.Ser202Ile) c.608G>T (p.Ser203Ile) c.665G>T (p.Ser222Ile) c.223G>T c.875G>T (p.Ser292Ile) c.734G>T (p.Ser245Ile) c.731G>T (p.Ser244Ile) c.656G>T (p.Ser219Ile) c.704G>T (p.Ser235Ile) c.638G>T (p.Ser213Ile) c.800G>T (p.Ser267Ile) c.686G>T (p.Ser229Ile) c.683G>T (p.Ser228Ile) c.797G>T (p.Ser266Ile) c.653G>T (p.Ser218Ile) c.872G>T (p.Ser291Ile) c.782G>T (p.Ser261Ile) | |
22 | g.35761288C= | CA2403556534 | RBFOX2 | c.788G= (p.Ser263=) c.668G= (p.Ser223=) c.*199G= (n.*199G=) c.*175G= (n.*175G=) c.*118G= (n.*118G=) c.878G= (p.Ser293=) c.611G= (p.Ser204=) c.605G= (p.Ser202=) c.608G= (p.Ser203=) c.665G= (p.Ser222=) c.223G= c.875G= (p.Ser292=) c.734G= (p.Ser245=) c.731G= (p.Ser244=) c.656G= (p.Ser219=) c.704G= (p.Ser235=) c.638G= (p.Ser213=) c.800G= (p.Ser267=) c.686G= (p.Ser229=) c.683G= (p.Ser228=) c.797G= (p.Ser266=) c.653G= (p.Ser218=) c.872G= (p.Ser291=) c.782G= (p.Ser261=) | |
22 | g.35761288C>G | CA411359308 | RBFOX2 | c.788G>C (p.Ser263Thr) c.668G>C (p.Ser223Thr) c.*199G>C (n.*199G>C) c.*175G>C (n.*175G>C) c.*118G>C (n.*118G>C) c.878G>C (p.Ser293Thr) c.611G>C (p.Ser204Thr) c.605G>C (p.Ser202Thr) c.608G>C (p.Ser203Thr) c.665G>C (p.Ser222Thr) c.223G>C c.875G>C (p.Ser292Thr) c.734G>C (p.Ser245Thr) c.731G>C (p.Ser244Thr) c.656G>C (p.Ser219Thr) c.704G>C (p.Ser235Thr) c.638G>C (p.Ser213Thr) c.800G>C (p.Ser267Thr) c.686G>C (p.Ser229Thr) c.683G>C (p.Ser228Thr) c.797G>C (p.Ser266Thr) c.653G>C (p.Ser218Thr) c.872G>C (p.Ser291Thr) c.782G>C (p.Ser261Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.35761288C>T | CA411359310 | RBFOX2 | c.788G>A (p.Ser263Asn) c.668G>A (p.Ser223Asn) c.*199G>A (n.*199G>A) c.*175G>A (n.*175G>A) c.*118G>A (n.*118G>A) c.878G>A (p.Ser293Asn) c.611G>A (p.Ser204Asn) c.605G>A (p.Ser202Asn) c.608G>A (p.Ser203Asn) c.665G>A (p.Ser222Asn) c.223G>A c.875G>A (p.Ser292Asn) c.734G>A (p.Ser245Asn) c.731G>A (p.Ser244Asn) c.656G>A (p.Ser219Asn) c.704G>A (p.Ser235Asn) c.638G>A (p.Ser213Asn) c.800G>A (p.Ser267Asn) c.686G>A (p.Ser229Asn) c.683G>A (p.Ser228Asn) c.797G>A (p.Ser266Asn) c.653G>A (p.Ser218Asn) c.872G>A (p.Ser291Asn) c.782G>A (p.Ser261Asn) | COSMIC COSMIC |
22 | g.35761289T>A | CA411359312 | RBFOX2 | c.787A>T (p.Ser263Cys) c.667A>T (p.Ser223Cys) c.*198A>T (n.*198A>T) c.*174A>T (n.*174A>T) c.*117A>T (n.*117A>T) c.877A>T (p.Ser293Cys) c.610A>T (p.Ser204Cys) c.604A>T (p.Ser202Cys) c.607A>T (p.Ser203Cys) c.664A>T (p.Ser222Cys) c.222A>T c.874A>T (p.Ser292Cys) c.733A>T (p.Ser245Cys) c.730A>T (p.Ser244Cys) c.655A>T (p.Ser219Cys) c.703A>T (p.Ser235Cys) c.637A>T (p.Ser213Cys) c.799A>T (p.Ser267Cys) c.685A>T (p.Ser229Cys) c.682A>T (p.Ser228Cys) c.796A>T (p.Ser266Cys) c.652A>T (p.Ser218Cys) c.871A>T (p.Ser291Cys) c.781A>T (p.Ser261Cys) | |
22 | g.35761289T>C | CA411359313 | RBFOX2 | c.787A>G (p.Ser263Gly) c.667A>G (p.Ser223Gly) c.*198A>G (n.*198A>G) c.*174A>G (n.*174A>G) c.*117A>G (n.*117A>G) c.877A>G (p.Ser293Gly) c.610A>G (p.Ser204Gly) c.604A>G (p.Ser202Gly) c.607A>G (p.Ser203Gly) c.664A>G (p.Ser222Gly) c.222A>G c.874A>G (p.Ser292Gly) c.733A>G (p.Ser245Gly) c.730A>G (p.Ser244Gly) c.655A>G (p.Ser219Gly) c.703A>G (p.Ser235Gly) c.637A>G (p.Ser213Gly) c.799A>G (p.Ser267Gly) c.685A>G (p.Ser229Gly) c.682A>G (p.Ser228Gly) c.796A>G (p.Ser266Gly) c.652A>G (p.Ser218Gly) c.871A>G (p.Ser291Gly) c.781A>G (p.Ser261Gly) | |
22 | g.35761289T>G | CA411359316 | RBFOX2 | c.787A>C (p.Ser263Arg) c.667A>C (p.Ser223Arg) c.*198A>C (n.*198A>C) c.*174A>C (n.*174A>C) c.*117A>C (n.*117A>C) c.877A>C (p.Ser293Arg) c.610A>C (p.Ser204Arg) c.604A>C (p.Ser202Arg) c.607A>C (p.Ser203Arg) c.664A>C (p.Ser222Arg) c.222A>C c.874A>C (p.Ser292Arg) c.733A>C (p.Ser245Arg) c.730A>C (p.Ser244Arg) c.655A>C (p.Ser219Arg) c.703A>C (p.Ser235Arg) c.637A>C (p.Ser213Arg) c.799A>C (p.Ser267Arg) c.685A>C (p.Ser229Arg) c.682A>C (p.Ser228Arg) c.796A>C (p.Ser266Arg) c.652A>C (p.Ser218Arg) c.871A>C (p.Ser291Arg) c.781A>C (p.Ser261Arg) | |
22 | g.35761290G>A | CA514339671 | RBFOX2 | c.786C>T (p.Ser262=) c.666C>T (p.Ser222=) c.*197C>T (n.*197C>T) c.*173C>T (n.*173C>T) c.*116C>T (n.*116C>T) c.876C>T (p.Ser292=) c.609C>T (p.Ser203=) c.603C>T (p.Ser201=) c.606C>T (p.Ser202=) c.663C>T (p.Ser221=) c.221C>T c.873C>T (p.Ser291=) c.732C>T (p.Ser244=) c.729C>T (p.Ser243=) c.654C>T (p.Ser218=) c.702C>T (p.Ser234=) c.636C>T (p.Ser212=) c.798C>T (p.Ser266=) c.684C>T (p.Ser228=) c.681C>T (p.Ser227=) c.795C>T (p.Ser265=) c.651C>T (p.Ser217=) c.870C>T (p.Ser290=) c.780C>T (p.Ser260=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.35761290G>C | CA514339672 | RBFOX2 | c.786C>G (p.Ser262=) c.666C>G (p.Ser222=) c.*197C>G (n.*197C>G) c.*173C>G (n.*173C>G) c.*116C>G (n.*116C>G) c.876C>G (p.Ser292=) c.609C>G (p.Ser203=) c.603C>G (p.Ser201=) c.606C>G (p.Ser202=) c.663C>G (p.Ser221=) c.221C>G c.873C>G (p.Ser291=) c.732C>G (p.Ser244=) c.729C>G (p.Ser243=) c.654C>G (p.Ser218=) c.702C>G (p.Ser234=) c.636C>G (p.Ser212=) c.798C>G (p.Ser266=) c.684C>G (p.Ser228=) c.681C>G (p.Ser227=) c.795C>G (p.Ser265=) c.651C>G (p.Ser217=) c.870C>G (p.Ser290=) c.780C>G (p.Ser260=) | |
22 | g.35761290G= | CA2403556535 | RBFOX2 | c.786C= (p.Ser262=) c.666C= (p.Ser222=) c.*197C= (n.*197C=) c.*173C= (n.*173C=) c.*116C= (n.*116C=) c.876C= (p.Ser292=) c.609C= (p.Ser203=) c.603C= (p.Ser201=) c.606C= (p.Ser202=) c.663C= (p.Ser221=) c.221C= c.873C= (p.Ser291=) c.732C= (p.Ser244=) c.729C= (p.Ser243=) c.654C= (p.Ser218=) c.702C= (p.Ser234=) c.636C= (p.Ser212=) c.798C= (p.Ser266=) c.684C= (p.Ser228=) c.681C= (p.Ser227=) c.795C= (p.Ser265=) c.651C= (p.Ser217=) c.870C= (p.Ser290=) c.780C= (p.Ser260=) | |
22 | g.35761290G>T | CA514339673 | RBFOX2 | c.786C>A (p.Ser262=) c.666C>A (p.Ser222=) c.*197C>A (n.*197C>A) c.*173C>A (n.*173C>A) c.*116C>A (n.*116C>A) c.876C>A (p.Ser292=) c.609C>A (p.Ser203=) c.603C>A (p.Ser201=) c.606C>A (p.Ser202=) c.663C>A (p.Ser221=) c.221C>A c.873C>A (p.Ser291=) c.732C>A (p.Ser244=) c.729C>A (p.Ser243=) c.654C>A (p.Ser218=) c.702C>A (p.Ser234=) c.636C>A (p.Ser212=) c.798C>A (p.Ser266=) c.684C>A (p.Ser228=) c.681C>A (p.Ser227=) c.795C>A (p.Ser265=) c.651C>A (p.Ser217=) c.870C>A (p.Ser290=) c.780C>A (p.Ser260=) | |
22 | g.35761291G>A | CA411359323 | RBFOX2 | c.785C>T (p.Ser262Phe) c.665C>T (p.Ser222Phe) c.*196C>T (n.*196C>T) c.*172C>T (n.*172C>T) c.*115C>T (n.*115C>T) c.875C>T (p.Ser292Phe) c.608C>T (p.Ser203Phe) c.602C>T (p.Ser201Phe) c.605C>T (p.Ser202Phe) c.662C>T (p.Ser221Phe) c.220C>T c.872C>T (p.Ser291Phe) c.731C>T (p.Ser244Phe) c.728C>T (p.Ser243Phe) c.653C>T (p.Ser218Phe) c.701C>T (p.Ser234Phe) c.635C>T (p.Ser212Phe) c.797C>T (p.Ser266Phe) c.683C>T (p.Ser228Phe) c.680C>T (p.Ser227Phe) c.794C>T (p.Ser265Phe) c.650C>T (p.Ser217Phe) c.869C>T (p.Ser290Phe) c.779C>T (p.Ser260Phe) | |
22 | g.35761291G>C | CA411359325 | RBFOX2 | c.785C>G (p.Ser262Cys) c.665C>G (p.Ser222Cys) c.*196C>G (n.*196C>G) c.*172C>G (n.*172C>G) c.*115C>G (n.*115C>G) c.875C>G (p.Ser292Cys) c.608C>G (p.Ser203Cys) c.602C>G (p.Ser201Cys) c.605C>G (p.Ser202Cys) c.662C>G (p.Ser221Cys) c.220C>G c.872C>G (p.Ser291Cys) c.731C>G (p.Ser244Cys) c.728C>G (p.Ser243Cys) c.653C>G (p.Ser218Cys) c.701C>G (p.Ser234Cys) c.635C>G (p.Ser212Cys) c.797C>G (p.Ser266Cys) c.683C>G (p.Ser228Cys) c.680C>G (p.Ser227Cys) c.794C>G (p.Ser265Cys) c.650C>G (p.Ser217Cys) c.869C>G (p.Ser290Cys) c.779C>G (p.Ser260Cys) | |
22 | g.35761291G>T | CA411359329 | RBFOX2 | c.785C>A (p.Ser262Tyr) c.665C>A (p.Ser222Tyr) c.*196C>A (n.*196C>A) c.*172C>A (n.*172C>A) c.*115C>A (n.*115C>A) c.875C>A (p.Ser292Tyr) c.608C>A (p.Ser203Tyr) c.602C>A (p.Ser201Tyr) c.605C>A (p.Ser202Tyr) c.662C>A (p.Ser221Tyr) c.220C>A c.872C>A (p.Ser291Tyr) c.731C>A (p.Ser244Tyr) c.728C>A (p.Ser243Tyr) c.653C>A (p.Ser218Tyr) c.701C>A (p.Ser234Tyr) c.635C>A (p.Ser212Tyr) c.797C>A (p.Ser266Tyr) c.683C>A (p.Ser228Tyr) c.680C>A (p.Ser227Tyr) c.794C>A (p.Ser265Tyr) c.650C>A (p.Ser217Tyr) c.869C>A (p.Ser290Tyr) c.779C>A (p.Ser260Tyr) | |
22 | g.35761292A>C | CA411359332 | RBFOX2 | c.784T>G (p.Ser262Ala) c.664T>G (p.Ser222Ala) c.*195T>G (n.*195T>G) c.*171T>G (n.*171T>G) c.*114T>G (n.*114T>G) c.874T>G (p.Ser292Ala) c.607T>G (p.Ser203Ala) c.601T>G (p.Ser201Ala) c.604T>G (p.Ser202Ala) c.661T>G (p.Ser221Ala) c.219T>G c.871T>G (p.Ser291Ala) c.730T>G (p.Ser244Ala) c.727T>G (p.Ser243Ala) c.652T>G (p.Ser218Ala) c.700T>G (p.Ser234Ala) c.634T>G (p.Ser212Ala) c.796T>G (p.Ser266Ala) c.682T>G (p.Ser228Ala) c.679T>G (p.Ser227Ala) c.793T>G (p.Ser265Ala) c.649T>G (p.Ser217Ala) c.868T>G (p.Ser290Ala) c.778T>G (p.Ser260Ala) | |
22 | g.35761292A>G | CA411359334 | RBFOX2 | c.784T>C (p.Ser262Pro) c.664T>C (p.Ser222Pro) c.*195T>C (n.*195T>C) c.*171T>C (n.*171T>C) c.*114T>C (n.*114T>C) c.874T>C (p.Ser292Pro) c.607T>C (p.Ser203Pro) c.601T>C (p.Ser201Pro) c.604T>C (p.Ser202Pro) c.661T>C (p.Ser221Pro) c.219T>C c.871T>C (p.Ser291Pro) c.730T>C (p.Ser244Pro) c.727T>C (p.Ser243Pro) c.652T>C (p.Ser218Pro) c.700T>C (p.Ser234Pro) c.634T>C (p.Ser212Pro) c.796T>C (p.Ser266Pro) c.682T>C (p.Ser228Pro) c.679T>C (p.Ser227Pro) c.793T>C (p.Ser265Pro) c.649T>C (p.Ser217Pro) c.868T>C (p.Ser290Pro) c.778T>C (p.Ser260Pro) | |
22 | g.35761292A>T | CA411359337 | RBFOX2 | c.784T>A (p.Ser262Thr) c.664T>A (p.Ser222Thr) c.*195T>A (n.*195T>A) c.*171T>A (n.*171T>A) c.*114T>A (n.*114T>A) c.874T>A (p.Ser292Thr) c.607T>A (p.Ser203Thr) c.601T>A (p.Ser201Thr) c.604T>A (p.Ser202Thr) c.661T>A (p.Ser221Thr) c.219T>A c.871T>A (p.Ser291Thr) c.730T>A (p.Ser244Thr) c.727T>A (p.Ser243Thr) c.652T>A (p.Ser218Thr) c.700T>A (p.Ser234Thr) c.634T>A (p.Ser212Thr) c.796T>A (p.Ser266Thr) c.682T>A (p.Ser228Thr) c.679T>A (p.Ser227Thr) c.793T>A (p.Ser265Thr) c.649T>A (p.Ser217Thr) c.868T>A (p.Ser290Thr) c.778T>A (p.Ser260Thr) | |
22 | g.35761293T>A | CA514339674 | RBFOX2 | c.783A>T (p.Ala261=) c.663A>T (p.Ala221=) c.*194A>T (n.*194A>T) c.*170A>T (n.*170A>T) c.*113A>T (n.*113A>T) c.873A>T (p.Ala291=) c.606A>T (p.Ala202=) c.600A>T (p.Ala200=) c.603A>T (p.Ala201=) c.660A>T (p.Ala220=) c.218A>T c.870A>T (p.Ala290=) c.729A>T (p.Ala243=) c.726A>T (p.Ala242=) c.651A>T (p.Ala217=) c.699A>T (p.Ala233=) c.633A>T (p.Ala211=) c.795A>T (p.Ala265=) c.681A>T (p.Ala227=) c.678A>T (p.Ala226=) c.792A>T (p.Ala264=) c.648A>T (p.Ala216=) c.867A>T (p.Ala289=) c.777A>T (p.Ala259=) | |
22 | g.35761293T>C | CA514339676 | RBFOX2 | c.783A>G (p.Ala261=) c.663A>G (p.Ala221=) c.*194A>G (n.*194A>G) c.*170A>G (n.*170A>G) c.*113A>G (n.*113A>G) c.873A>G (p.Ala291=) c.606A>G (p.Ala202=) c.600A>G (p.Ala200=) c.603A>G (p.Ala201=) c.660A>G (p.Ala220=) c.218A>G c.870A>G (p.Ala290=) c.729A>G (p.Ala243=) c.726A>G (p.Ala242=) c.651A>G (p.Ala217=) c.699A>G (p.Ala233=) c.633A>G (p.Ala211=) c.795A>G (p.Ala265=) c.681A>G (p.Ala227=) c.678A>G (p.Ala226=) c.792A>G (p.Ala264=) c.648A>G (p.Ala216=) c.867A>G (p.Ala289=) c.777A>G (p.Ala259=) | dbSNP |
22 | g.35761293T>G | CA514339675 | RBFOX2 | c.783A>C (p.Ala261=) c.663A>C (p.Ala221=) c.*194A>C (n.*194A>C) c.*170A>C (n.*170A>C) c.*113A>C (n.*113A>C) c.873A>C (p.Ala291=) c.606A>C (p.Ala202=) c.600A>C (p.Ala200=) c.603A>C (p.Ala201=) c.660A>C (p.Ala220=) c.218A>C c.870A>C (p.Ala290=) c.729A>C (p.Ala243=) c.726A>C (p.Ala242=) c.651A>C (p.Ala217=) c.699A>C (p.Ala233=) c.633A>C (p.Ala211=) c.795A>C (p.Ala265=) c.681A>C (p.Ala227=) c.678A>C (p.Ala226=) c.792A>C (p.Ala264=) c.648A>C (p.Ala216=) c.867A>C (p.Ala289=) c.777A>C (p.Ala259=) | dbSNP gnomAD v4 |
22 | g.35761293T= | CA2403556536 | RBFOX2 | c.783A= (p.Ala261=) c.663A= (p.Ala221=) c.*194A= (n.*194A=) c.*170A= (n.*170A=) c.*113A= (n.*113A=) c.873A= (p.Ala291=) c.606A= (p.Ala202=) c.600A= (p.Ala200=) c.603A= (p.Ala201=) c.660A= (p.Ala220=) c.218A= c.870A= (p.Ala290=) c.729A= (p.Ala243=) c.726A= (p.Ala242=) c.651A= (p.Ala217=) c.699A= (p.Ala233=) c.633A= (p.Ala211=) c.795A= (p.Ala265=) c.681A= (p.Ala227=) c.678A= (p.Ala226=) c.792A= (p.Ala264=) c.648A= (p.Ala216=) c.867A= (p.Ala289=) c.777A= (p.Ala259=) | |
22 | g.35761294G>A | CA411359342 | RBFOX2 | c.782C>T (p.Ala261Val) c.662C>T (p.Ala221Val) c.*193C>T (n.*193C>T) c.*169C>T (n.*169C>T) c.*112C>T (n.*112C>T) c.872C>T (p.Ala291Val) c.605C>T (p.Ala202Val) c.599C>T (p.Ala200Val) c.602C>T (p.Ala201Val) c.659C>T (p.Ala220Val) c.217C>T c.869C>T (p.Ala290Val) c.728C>T (p.Ala243Val) c.725C>T (p.Ala242Val) c.650C>T (p.Ala217Val) c.698C>T (p.Ala233Val) c.632C>T (p.Ala211Val) c.794C>T (p.Ala265Val) c.680C>T (p.Ala227Val) c.677C>T (p.Ala226Val) c.791C>T (p.Ala264Val) c.647C>T (p.Ala216Val) c.866C>T (p.Ala289Val) c.776C>T (p.Ala259Val) | |
22 | g.35761294G>C | CA411359343 | RBFOX2 | c.782C>G (p.Ala261Gly) c.662C>G (p.Ala221Gly) c.*193C>G (n.*193C>G) c.*169C>G (n.*169C>G) c.*112C>G (n.*112C>G) c.872C>G (p.Ala291Gly) c.605C>G (p.Ala202Gly) c.599C>G (p.Ala200Gly) c.602C>G (p.Ala201Gly) c.659C>G (p.Ala220Gly) c.217C>G c.869C>G (p.Ala290Gly) c.728C>G (p.Ala243Gly) c.725C>G (p.Ala242Gly) c.650C>G (p.Ala217Gly) c.698C>G (p.Ala233Gly) c.632C>G (p.Ala211Gly) c.794C>G (p.Ala265Gly) c.680C>G (p.Ala227Gly) c.677C>G (p.Ala226Gly) c.791C>G (p.Ala264Gly) c.647C>G (p.Ala216Gly) c.866C>G (p.Ala289Gly) c.776C>G (p.Ala259Gly) | |
22 | g.35761294G>T | CA411359340 | RBFOX2 | c.782C>A (p.Ala261Glu) c.662C>A (p.Ala221Glu) c.*193C>A (n.*193C>A) c.*169C>A (n.*169C>A) c.*112C>A (n.*112C>A) c.872C>A (p.Ala291Glu) c.605C>A (p.Ala202Glu) c.599C>A (p.Ala200Glu) c.602C>A (p.Ala201Glu) c.659C>A (p.Ala220Glu) c.217C>A c.869C>A (p.Ala290Glu) c.728C>A (p.Ala243Glu) c.725C>A (p.Ala242Glu) c.650C>A (p.Ala217Glu) c.698C>A (p.Ala233Glu) c.632C>A (p.Ala211Glu) c.794C>A (p.Ala265Glu) c.680C>A (p.Ala227Glu) c.677C>A (p.Ala226Glu) c.791C>A (p.Ala264Glu) c.647C>A (p.Ala216Glu) c.866C>A (p.Ala289Glu) c.776C>A (p.Ala259Glu) | |
22 | g.35761295C>A | CA411359345 | RBFOX2 | c.782-1G>T (n.782-1G>T) c.662-1G>T (n.662-1G>T) c.*193-1G>T (n.*193-1G>T) c.*169-1G>T (n.*169-1G>T) c.*112-1G>T (n.*112-1G>T) c.872-1G>T (n.872-1G>T) c.605-1G>T (n.605-1G>T) c.599-1G>T (n.599-1G>T) c.602-1G>T (n.602-1G>T) c.659-1G>T (n.659-1G>T) c.217-1G>T c.869-1G>T (n.869-1G>T) c.728-1G>T (n.728-1G>T) c.725-1G>T (n.725-1G>T) c.650-1G>T (n.650-1G>T) c.698-1G>T (n.698-1G>T) c.632-1G>T (n.632-1G>T) c.794-1G>T (n.794-1G>T) c.680-1G>T (n.680-1G>T) c.677-1G>T (n.677-1G>T) c.791-1G>T (n.791-1G>T) c.647-1G>T (n.647-1G>T) c.866-1G>T (n.866-1G>T) c.776-1G>T (n.776-1G>T) | |
22 | g.35761295C>G | CA411359346 | RBFOX2 | c.782-1G>C (n.782-1G>C) c.662-1G>C (n.662-1G>C) c.*193-1G>C (n.*193-1G>C) c.*169-1G>C (n.*169-1G>C) c.*112-1G>C (n.*112-1G>C) c.872-1G>C (n.872-1G>C) c.605-1G>C (n.605-1G>C) c.599-1G>C (n.599-1G>C) c.602-1G>C (n.602-1G>C) c.659-1G>C (n.659-1G>C) c.217-1G>C c.869-1G>C (n.869-1G>C) c.728-1G>C (n.728-1G>C) c.725-1G>C (n.725-1G>C) c.650-1G>C (n.650-1G>C) c.698-1G>C (n.698-1G>C) c.632-1G>C (n.632-1G>C) c.794-1G>C (n.794-1G>C) c.680-1G>C (n.680-1G>C) c.677-1G>C (n.677-1G>C) c.791-1G>C (n.791-1G>C) c.647-1G>C (n.647-1G>C) c.866-1G>C (n.866-1G>C) c.776-1G>C (n.776-1G>C) | |
22 | g.35761295C>T | CA411359347 | RBFOX2 | c.782-1G>A (n.782-1G>A) c.662-1G>A (n.662-1G>A) c.*193-1G>A (n.*193-1G>A) c.*169-1G>A (n.*169-1G>A) c.*112-1G>A (n.*112-1G>A) c.872-1G>A (n.872-1G>A) c.605-1G>A (n.605-1G>A) c.599-1G>A (n.599-1G>A) c.602-1G>A (n.602-1G>A) c.659-1G>A (n.659-1G>A) c.217-1G>A c.869-1G>A (n.869-1G>A) c.728-1G>A (n.728-1G>A) c.725-1G>A (n.725-1G>A) c.650-1G>A (n.650-1G>A) c.698-1G>A (n.698-1G>A) c.632-1G>A (n.632-1G>A) c.794-1G>A (n.794-1G>A) c.680-1G>A (n.680-1G>A) c.677-1G>A (n.677-1G>A) c.791-1G>A (n.791-1G>A) c.647-1G>A (n.647-1G>A) c.866-1G>A (n.866-1G>A) c.776-1G>A (n.776-1G>A) | COSMIC COSMIC |
22 | g.35761296T>A | CA411359348 | RBFOX2 | c.782-2A>T (n.782-2A>T) c.662-2A>T (n.662-2A>T) c.*193-2A>T (n.*193-2A>T) c.*169-2A>T (n.*169-2A>T) c.*112-2A>T (n.*112-2A>T) c.872-2A>T (n.872-2A>T) c.605-2A>T (n.605-2A>T) c.599-2A>T (n.599-2A>T) c.602-2A>T (n.602-2A>T) c.659-2A>T (n.659-2A>T) c.217-2A>T c.869-2A>T (n.869-2A>T) c.728-2A>T (n.728-2A>T) c.725-2A>T (n.725-2A>T) c.650-2A>T (n.650-2A>T) c.698-2A>T (n.698-2A>T) c.632-2A>T (n.632-2A>T) c.794-2A>T (n.794-2A>T) c.680-2A>T (n.680-2A>T) c.677-2A>T (n.677-2A>T) c.791-2A>T (n.791-2A>T) c.647-2A>T (n.647-2A>T) c.866-2A>T (n.866-2A>T) c.776-2A>T (n.776-2A>T) | dbSNP |
22 | g.35761296T>C | CA411359351 | RBFOX2 | c.782-2A>G (n.782-2A>G) c.662-2A>G (n.662-2A>G) c.*193-2A>G (n.*193-2A>G) c.*169-2A>G (n.*169-2A>G) c.*112-2A>G (n.*112-2A>G) c.872-2A>G (n.872-2A>G) c.605-2A>G (n.605-2A>G) c.599-2A>G (n.599-2A>G) c.602-2A>G (n.602-2A>G) c.659-2A>G (n.659-2A>G) c.217-2A>G c.869-2A>G (n.869-2A>G) c.728-2A>G (n.728-2A>G) c.725-2A>G (n.725-2A>G) c.650-2A>G (n.650-2A>G) c.698-2A>G (n.698-2A>G) c.632-2A>G (n.632-2A>G) c.794-2A>G (n.794-2A>G) c.680-2A>G (n.680-2A>G) c.677-2A>G (n.677-2A>G) c.791-2A>G (n.791-2A>G) c.647-2A>G (n.647-2A>G) c.866-2A>G (n.866-2A>G) c.776-2A>G (n.776-2A>G) | |
22 | g.35761296T>G | CA411359353 | RBFOX2 | c.782-2A>C (n.782-2A>C) c.662-2A>C (n.662-2A>C) c.*193-2A>C (n.*193-2A>C) c.*169-2A>C (n.*169-2A>C) c.*112-2A>C (n.*112-2A>C) c.872-2A>C (n.872-2A>C) c.605-2A>C (n.605-2A>C) c.599-2A>C (n.599-2A>C) c.602-2A>C (n.602-2A>C) c.659-2A>C (n.659-2A>C) c.217-2A>C c.869-2A>C (n.869-2A>C) c.728-2A>C (n.728-2A>C) c.725-2A>C (n.725-2A>C) c.650-2A>C (n.650-2A>C) c.698-2A>C (n.698-2A>C) c.632-2A>C (n.632-2A>C) c.794-2A>C (n.794-2A>C) c.680-2A>C (n.680-2A>C) c.677-2A>C (n.677-2A>C) c.791-2A>C (n.791-2A>C) c.647-2A>C (n.647-2A>C) c.866-2A>C (n.866-2A>C) c.776-2A>C (n.776-2A>C) | |
22 | g.35761297G>A | CA639128192 | RBFOX2 | c.782-3C>T (n.782-3C>T) c.662-3C>T (n.662-3C>T) c.*193-3C>T (n.*193-3C>T) c.*169-3C>T (n.*169-3C>T) c.*112-3C>T (n.*112-3C>T) c.872-3C>T (n.872-3C>T) c.605-3C>T (n.605-3C>T) c.599-3C>T (n.599-3C>T) c.602-3C>T (n.602-3C>T) c.659-3C>T (n.659-3C>T) c.217-3C>T c.869-3C>T (n.869-3C>T) c.728-3C>T (n.728-3C>T) c.725-3C>T (n.725-3C>T) c.650-3C>T (n.650-3C>T) c.698-3C>T (n.698-3C>T) c.632-3C>T (n.632-3C>T) c.794-3C>T (n.794-3C>T) c.680-3C>T (n.680-3C>T) c.677-3C>T (n.677-3C>T) c.791-3C>T (n.791-3C>T) c.647-3C>T (n.647-3C>T) c.866-3C>T (n.866-3C>T) c.776-3C>T (n.776-3C>T) | dbSNP gnomAD v2 |
22 | g.35761297G= | CA2403556537 | RBFOX2 | c.782-3C= (n.782-3C=) c.662-3C= (n.662-3C=) c.*193-3C= (n.*193-3C=) c.*169-3C= (n.*169-3C=) c.*112-3C= (n.*112-3C=) c.872-3C= (n.872-3C=) c.605-3C= (n.605-3C=) c.599-3C= (n.599-3C=) c.602-3C= (n.602-3C=) c.659-3C= (n.659-3C=) c.217-3C= c.869-3C= (n.869-3C=) c.728-3C= (n.728-3C=) c.725-3C= (n.725-3C=) c.650-3C= (n.650-3C=) c.698-3C= (n.698-3C=) c.632-3C= (n.632-3C=) c.794-3C= (n.794-3C=) c.680-3C= (n.680-3C=) c.677-3C= (n.677-3C=) c.791-3C= (n.791-3C=) c.647-3C= (n.647-3C=) c.866-3C= (n.866-3C=) c.776-3C= (n.776-3C=) | |
22 | g.35761299T>C | CA2697552740 | RBFOX2 | c.782-5A>G (n.782-5A>G) c.662-5A>G (n.662-5A>G) c.*193-5A>G (n.*193-5A>G) c.*169-5A>G (n.*169-5A>G) c.*112-5A>G (n.*112-5A>G) c.872-5A>G (n.872-5A>G) c.605-5A>G (n.605-5A>G) c.599-5A>G (n.599-5A>G) c.602-5A>G (n.602-5A>G) c.659-5A>G (n.659-5A>G) c.217-5A>G c.869-5A>G (n.869-5A>G) c.728-5A>G (n.728-5A>G) c.725-5A>G (n.725-5A>G) c.650-5A>G (n.650-5A>G) c.698-5A>G (n.698-5A>G) c.632-5A>G (n.632-5A>G) c.794-5A>G (n.794-5A>G) c.680-5A>G (n.680-5A>G) c.677-5A>G (n.677-5A>G) c.791-5A>G (n.791-5A>G) c.647-5A>G (n.647-5A>G) c.866-5A>G (n.866-5A>G) c.776-5A>G (n.776-5A>G) | ClinVar |
22 | g.35761300T>A | CA2656389520 | RBFOX2 | c.782-6A>T (n.782-6A>T) c.662-6A>T (n.662-6A>T) c.*193-6A>T (n.*193-6A>T) c.*169-6A>T (n.*169-6A>T) c.*112-6A>T (n.*112-6A>T) c.872-6A>T (n.872-6A>T) c.605-6A>T (n.605-6A>T) c.599-6A>T (n.599-6A>T) c.602-6A>T (n.602-6A>T) c.659-6A>T (n.659-6A>T) c.217-6A>T c.869-6A>T (n.869-6A>T) c.728-6A>T (n.728-6A>T) c.725-6A>T (n.725-6A>T) c.650-6A>T (n.650-6A>T) c.698-6A>T (n.698-6A>T) c.632-6A>T (n.632-6A>T) c.794-6A>T (n.794-6A>T) c.680-6A>T (n.680-6A>T) c.677-6A>T (n.677-6A>T) c.791-6A>T (n.791-6A>T) c.647-6A>T (n.647-6A>T) c.866-6A>T (n.866-6A>T) c.776-6A>T (n.776-6A>T) | gnomAD v4 |
22 | g.35761301G>C | CA2656389521 | RBFOX2 | c.782-7C>G (n.782-7C>G) c.662-7C>G (n.662-7C>G) c.*193-7C>G (n.*193-7C>G) c.*169-7C>G (n.*169-7C>G) c.*112-7C>G (n.*112-7C>G) c.872-7C>G (n.872-7C>G) c.605-7C>G (n.605-7C>G) c.599-7C>G (n.599-7C>G) c.602-7C>G (n.602-7C>G) c.659-7C>G (n.659-7C>G) c.217-7C>G c.869-7C>G (n.869-7C>G) c.728-7C>G (n.728-7C>G) c.725-7C>G (n.725-7C>G) c.650-7C>G (n.650-7C>G) c.698-7C>G (n.698-7C>G) c.632-7C>G (n.632-7C>G) c.794-7C>G (n.794-7C>G) c.680-7C>G (n.680-7C>G) c.677-7C>G (n.677-7C>G) c.791-7C>G (n.791-7C>G) c.647-7C>G (n.647-7C>G) c.866-7C>G (n.866-7C>G) c.776-7C>G (n.776-7C>G) | gnomAD v4 |
22 | g.35761301G= | CA2403556538 | RBFOX2 | c.782-7C= (n.782-7C=) c.662-7C= (n.662-7C=) c.*193-7C= (n.*193-7C=) c.*169-7C= (n.*169-7C=) c.*112-7C= (n.*112-7C=) c.872-7C= (n.872-7C=) c.605-7C= (n.605-7C=) c.599-7C= (n.599-7C=) c.602-7C= (n.602-7C=) c.659-7C= (n.659-7C=) c.217-7C= c.869-7C= (n.869-7C=) c.728-7C= (n.728-7C=) c.725-7C= (n.725-7C=) c.650-7C= (n.650-7C=) c.698-7C= (n.698-7C=) c.632-7C= (n.632-7C=) c.794-7C= (n.794-7C=) c.680-7C= (n.680-7C=) c.677-7C= (n.677-7C=) c.791-7C= (n.791-7C=) c.647-7C= (n.647-7C=) c.866-7C= (n.866-7C=) c.776-7C= (n.776-7C=) | |
22 | g.35761301G>T | CA10206830 | RBFOX2 | c.782-7C>A (n.782-7C>A) c.662-7C>A (n.662-7C>A) c.*193-7C>A (n.*193-7C>A) c.*169-7C>A (n.*169-7C>A) c.*112-7C>A (n.*112-7C>A) c.872-7C>A (n.872-7C>A) c.605-7C>A (n.605-7C>A) c.599-7C>A (n.599-7C>A) c.602-7C>A (n.602-7C>A) c.659-7C>A (n.659-7C>A) c.217-7C>A c.869-7C>A (n.869-7C>A) c.728-7C>A (n.728-7C>A) c.725-7C>A (n.725-7C>A) c.650-7C>A (n.650-7C>A) c.698-7C>A (n.698-7C>A) c.632-7C>A (n.632-7C>A) c.794-7C>A (n.794-7C>A) c.680-7C>A (n.680-7C>A) c.677-7C>A (n.677-7C>A) c.791-7C>A (n.791-7C>A) c.647-7C>A (n.647-7C>A) c.866-7C>A (n.866-7C>A) c.776-7C>A (n.776-7C>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
22 | g.35761302G>A | CA10206831 | RBFOX2 | c.782-8C>T (n.782-8C>T) c.662-8C>T (n.662-8C>T) c.*193-8C>T (n.*193-8C>T) c.*169-8C>T (n.*169-8C>T) c.*112-8C>T (n.*112-8C>T) c.872-8C>T (n.872-8C>T) c.605-8C>T (n.605-8C>T) c.599-8C>T (n.599-8C>T) c.602-8C>T (n.602-8C>T) c.659-8C>T (n.659-8C>T) c.217-8C>T c.869-8C>T (n.869-8C>T) c.728-8C>T (n.728-8C>T) c.725-8C>T (n.725-8C>T) c.650-8C>T (n.650-8C>T) c.698-8C>T (n.698-8C>T) c.632-8C>T (n.632-8C>T) c.794-8C>T (n.794-8C>T) c.680-8C>T (n.680-8C>T) c.677-8C>T (n.677-8C>T) c.791-8C>T (n.791-8C>T) c.647-8C>T (n.647-8C>T) c.866-8C>T (n.866-8C>T) c.776-8C>T (n.776-8C>T) | dbSNP ExAC gnomAD v2 |
22 | g.35761302G>C | CA2577701032 | RBFOX2 | c.782-8C>G (n.782-8C>G) c.662-8C>G (n.662-8C>G) c.*193-8C>G (n.*193-8C>G) c.*169-8C>G (n.*169-8C>G) c.*112-8C>G (n.*112-8C>G) c.872-8C>G (n.872-8C>G) c.605-8C>G (n.605-8C>G) c.599-8C>G (n.599-8C>G) c.602-8C>G (n.602-8C>G) c.659-8C>G (n.659-8C>G) c.217-8C>G c.869-8C>G (n.869-8C>G) c.728-8C>G (n.728-8C>G) c.725-8C>G (n.725-8C>G) c.650-8C>G (n.650-8C>G) c.698-8C>G (n.698-8C>G) c.632-8C>G (n.632-8C>G) c.794-8C>G (n.794-8C>G) c.680-8C>G (n.680-8C>G) c.677-8C>G (n.677-8C>G) c.791-8C>G (n.791-8C>G) c.647-8C>G (n.647-8C>G) c.866-8C>G (n.866-8C>G) c.776-8C>G (n.776-8C>G) | |
22 | g.35761302G= | CA2403556539 | RBFOX2 | c.782-8C= (n.782-8C=) c.662-8C= (n.662-8C=) c.*193-8C= (n.*193-8C=) c.*169-8C= (n.*169-8C=) c.*112-8C= (n.*112-8C=) c.872-8C= (n.872-8C=) c.605-8C= (n.605-8C=) c.599-8C= (n.599-8C=) c.602-8C= (n.602-8C=) c.659-8C= (n.659-8C=) c.217-8C= c.869-8C= (n.869-8C=) c.728-8C= (n.728-8C=) c.725-8C= (n.725-8C=) c.650-8C= (n.650-8C=) c.698-8C= (n.698-8C=) c.632-8C= (n.632-8C=) c.794-8C= (n.794-8C=) c.680-8C= (n.680-8C=) c.677-8C= (n.677-8C=) c.791-8C= (n.791-8C=) c.647-8C= (n.647-8C=) c.866-8C= (n.866-8C=) c.776-8C= (n.776-8C=) | |
22 | g.35761303A= | CA2403556540 | RBFOX2 | c.782-9T= (n.782-9T=) c.662-9T= (n.662-9T=) c.*193-9T= (n.*193-9T=) c.*169-9T= (n.*169-9T=) c.*112-9T= (n.*112-9T=) c.872-9T= (n.872-9T=) c.605-9T= (n.605-9T=) c.599-9T= (n.599-9T=) c.602-9T= (n.602-9T=) c.659-9T= (n.659-9T=) c.217-9T= c.869-9T= (n.869-9T=) c.728-9T= (n.728-9T=) c.725-9T= (n.725-9T=) c.650-9T= (n.650-9T=) c.698-9T= (n.698-9T=) c.632-9T= (n.632-9T=) c.794-9T= (n.794-9T=) c.680-9T= (n.680-9T=) c.677-9T= (n.677-9T=) c.791-9T= (n.791-9T=) c.647-9T= (n.647-9T=) c.866-9T= (n.866-9T=) c.776-9T= (n.776-9T=) | |
22 | g.35761304T>G | CA10206832 | RBFOX2 | c.782-10A>C (n.782-10A>C) c.662-10A>C (n.662-10A>C) c.*193-10A>C (n.*193-10A>C) c.*169-10A>C (n.*169-10A>C) c.*112-10A>C (n.*112-10A>C) c.872-10A>C (n.872-10A>C) c.605-10A>C (n.605-10A>C) c.599-10A>C (n.599-10A>C) c.602-10A>C (n.602-10A>C) c.659-10A>C (n.659-10A>C) c.217-10A>C c.869-10A>C (n.869-10A>C) c.728-10A>C (n.728-10A>C) c.725-10A>C (n.725-10A>C) c.650-10A>C (n.650-10A>C) c.698-10A>C (n.698-10A>C) c.632-10A>C (n.632-10A>C) c.794-10A>C (n.794-10A>C) c.680-10A>C (n.680-10A>C) c.677-10A>C (n.677-10A>C) c.791-10A>C (n.791-10A>C) c.647-10A>C (n.647-10A>C) c.866-10A>C (n.866-10A>C) c.776-10A>C (n.776-10A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761304T= | CA2403556542 | RBFOX2 | c.782-10A= (n.782-10A=) c.662-10A= (n.662-10A=) c.*193-10A= (n.*193-10A=) c.*169-10A= (n.*169-10A=) c.*112-10A= (n.*112-10A=) c.872-10A= (n.872-10A=) c.605-10A= (n.605-10A=) c.599-10A= (n.599-10A=) c.602-10A= (n.602-10A=) c.659-10A= (n.659-10A=) c.217-10A= c.869-10A= (n.869-10A=) c.728-10A= (n.728-10A=) c.725-10A= (n.725-10A=) c.650-10A= (n.650-10A=) c.698-10A= (n.698-10A=) c.632-10A= (n.632-10A=) c.794-10A= (n.794-10A=) c.680-10A= (n.680-10A=) c.677-10A= (n.677-10A=) c.791-10A= (n.791-10A=) c.647-10A= (n.647-10A=) c.866-10A= (n.866-10A=) c.776-10A= (n.776-10A=) | |
22 | g.35761308dup | CA2403556541 | RBFOX2 | c.782-10dup (n.782-10dup) c.662-10dup (n.662-10dup) c.*193-10dup (n.*193-10dup) c.*169-10dup (n.*169-10dup) c.*112-10dup (n.*112-10dup) c.872-10dup (n.872-10dup) c.605-10dup (n.605-10dup) c.599-10dup (n.599-10dup) c.602-10dup (n.602-10dup) c.659-10dup (n.659-10dup) c.217-10dup c.869-10dup (n.869-10dup) c.728-10dup (n.728-10dup) c.725-10dup (n.725-10dup) c.650-10dup (n.650-10dup) c.698-10dup (n.698-10dup) c.632-10dup (n.632-10dup) c.794-10dup (n.794-10dup) c.680-10dup (n.680-10dup) c.677-10dup (n.677-10dup) c.791-10dup (n.791-10dup) c.647-10dup (n.647-10dup) c.866-10dup (n.866-10dup) c.776-10dup (n.776-10dup) | dbSNP |
22 | g.35761305T>G | CA2656389522 | RBFOX2 | c.782-11A>C (n.782-11A>C) c.662-11A>C (n.662-11A>C) c.*193-11A>C (n.*193-11A>C) c.*169-11A>C (n.*169-11A>C) c.*112-11A>C (n.*112-11A>C) c.872-11A>C (n.872-11A>C) c.605-11A>C (n.605-11A>C) c.599-11A>C (n.599-11A>C) c.602-11A>C (n.602-11A>C) c.659-11A>C (n.659-11A>C) c.217-11A>C c.869-11A>C (n.869-11A>C) c.728-11A>C (n.728-11A>C) c.725-11A>C (n.725-11A>C) c.650-11A>C (n.650-11A>C) c.698-11A>C (n.698-11A>C) c.632-11A>C (n.632-11A>C) c.794-11A>C (n.794-11A>C) c.680-11A>C (n.680-11A>C) c.677-11A>C (n.677-11A>C) c.791-11A>C (n.791-11A>C) c.647-11A>C (n.647-11A>C) c.866-11A>C (n.866-11A>C) c.776-11A>C (n.776-11A>C) | gnomAD v4 |
22 | g.35761308T>C | CA752814818 | RBFOX2 | c.782-14A>G (n.782-14A>G) c.662-14A>G (n.662-14A>G) c.*193-14A>G (n.*193-14A>G) c.*169-14A>G (n.*169-14A>G) c.*112-14A>G (n.*112-14A>G) c.872-14A>G (n.872-14A>G) c.605-14A>G (n.605-14A>G) c.599-14A>G (n.599-14A>G) c.602-14A>G (n.602-14A>G) c.659-14A>G (n.659-14A>G) c.217-14A>G c.869-14A>G (n.869-14A>G) c.728-14A>G (n.728-14A>G) c.725-14A>G (n.725-14A>G) c.650-14A>G (n.650-14A>G) c.698-14A>G (n.698-14A>G) c.632-14A>G (n.632-14A>G) c.794-14A>G (n.794-14A>G) c.680-14A>G (n.680-14A>G) c.677-14A>G (n.677-14A>G) c.791-14A>G (n.791-14A>G) c.647-14A>G (n.647-14A>G) c.866-14A>G (n.866-14A>G) c.776-14A>G (n.776-14A>G) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.35761308T= | CA2403556543 | RBFOX2 | c.782-14A= (n.782-14A=) c.662-14A= (n.662-14A=) c.*193-14A= (n.*193-14A=) c.*169-14A= (n.*169-14A=) c.*112-14A= (n.*112-14A=) c.872-14A= (n.872-14A=) c.605-14A= (n.605-14A=) c.599-14A= (n.599-14A=) c.602-14A= (n.602-14A=) c.659-14A= (n.659-14A=) c.217-14A= c.869-14A= (n.869-14A=) c.728-14A= (n.728-14A=) c.725-14A= (n.725-14A=) c.650-14A= (n.650-14A=) c.698-14A= (n.698-14A=) c.632-14A= (n.632-14A=) c.794-14A= (n.794-14A=) c.680-14A= (n.680-14A=) c.677-14A= (n.677-14A=) c.791-14A= (n.791-14A=) c.647-14A= (n.647-14A=) c.866-14A= (n.866-14A=) c.776-14A= (n.776-14A=) | |
22 | g.35761309A= | CA2403556544 | RBFOX2 | c.782-15T= (n.782-15T=) c.662-15T= (n.662-15T=) c.*193-15T= (n.*193-15T=) c.*169-15T= (n.*169-15T=) c.*112-15T= (n.*112-15T=) c.872-15T= (n.872-15T=) c.605-15T= (n.605-15T=) c.599-15T= (n.599-15T=) c.602-15T= (n.602-15T=) c.659-15T= (n.659-15T=) c.217-15T= c.869-15T= (n.869-15T=) c.728-15T= (n.728-15T=) c.725-15T= (n.725-15T=) c.650-15T= (n.650-15T=) c.698-15T= (n.698-15T=) c.632-15T= (n.632-15T=) c.794-15T= (n.794-15T=) c.680-15T= (n.680-15T=) c.677-15T= (n.677-15T=) c.791-15T= (n.791-15T=) c.647-15T= (n.647-15T=) c.866-15T= (n.866-15T=) c.776-15T= (n.776-15T=) | |
22 | g.35761309A>G | CA2656389523 | RBFOX2 | c.782-15T>C (n.782-15T>C) c.662-15T>C (n.662-15T>C) c.*193-15T>C (n.*193-15T>C) c.*169-15T>C (n.*169-15T>C) c.*112-15T>C (n.*112-15T>C) c.872-15T>C (n.872-15T>C) c.605-15T>C (n.605-15T>C) c.599-15T>C (n.599-15T>C) c.602-15T>C (n.602-15T>C) c.659-15T>C (n.659-15T>C) c.217-15T>C c.869-15T>C (n.869-15T>C) c.728-15T>C (n.728-15T>C) c.725-15T>C (n.725-15T>C) c.650-15T>C (n.650-15T>C) c.698-15T>C (n.698-15T>C) c.632-15T>C (n.632-15T>C) c.794-15T>C (n.794-15T>C) c.680-15T>C (n.680-15T>C) c.677-15T>C (n.677-15T>C) c.791-15T>C (n.791-15T>C) c.647-15T>C (n.647-15T>C) c.866-15T>C (n.866-15T>C) c.776-15T>C (n.776-15T>C) | gnomAD v4 |
22 | g.35761309A>T | CA2403556545 | RBFOX2 | c.782-15T>A (n.782-15T>A) c.662-15T>A (n.662-15T>A) c.*193-15T>A (n.*193-15T>A) c.*169-15T>A (n.*169-15T>A) c.*112-15T>A (n.*112-15T>A) c.872-15T>A (n.872-15T>A) c.605-15T>A (n.605-15T>A) c.599-15T>A (n.599-15T>A) c.602-15T>A (n.602-15T>A) c.659-15T>A (n.659-15T>A) c.217-15T>A c.869-15T>A (n.869-15T>A) c.728-15T>A (n.728-15T>A) c.725-15T>A (n.725-15T>A) c.650-15T>A (n.650-15T>A) c.698-15T>A (n.698-15T>A) c.632-15T>A (n.632-15T>A) c.794-15T>A (n.794-15T>A) c.680-15T>A (n.680-15T>A) c.677-15T>A (n.677-15T>A) c.791-15T>A (n.791-15T>A) c.647-15T>A (n.647-15T>A) c.866-15T>A (n.866-15T>A) c.776-15T>A (n.776-15T>A) | dbSNP gnomAD v4 |
22 | g.35761310A= | CA2403556547 | RBFOX2 | c.782-16T= (n.782-16T=) c.662-16T= (n.662-16T=) c.*193-16T= (n.*193-16T=) c.*169-16T= (n.*169-16T=) c.*112-16T= (n.*112-16T=) c.872-16T= (n.872-16T=) c.605-16T= (n.605-16T=) c.599-16T= (n.599-16T=) c.602-16T= (n.602-16T=) c.659-16T= (n.659-16T=) c.217-16T= c.869-16T= (n.869-16T=) c.728-16T= (n.728-16T=) c.725-16T= (n.725-16T=) c.650-16T= (n.650-16T=) c.698-16T= (n.698-16T=) c.632-16T= (n.632-16T=) c.794-16T= (n.794-16T=) c.680-16T= (n.680-16T=) c.677-16T= (n.677-16T=) c.791-16T= (n.791-16T=) c.647-16T= (n.647-16T=) c.866-16T= (n.866-16T=) c.776-16T= (n.776-16T=) | |
22 | g.35761310A>C | CA2403556546 | RBFOX2 | c.782-16T>G (n.782-16T>G) c.662-16T>G (n.662-16T>G) c.*193-16T>G (n.*193-16T>G) c.*169-16T>G (n.*169-16T>G) c.*112-16T>G (n.*112-16T>G) c.872-16T>G (n.872-16T>G) c.605-16T>G (n.605-16T>G) c.599-16T>G (n.599-16T>G) c.602-16T>G (n.602-16T>G) c.659-16T>G (n.659-16T>G) c.217-16T>G c.869-16T>G (n.869-16T>G) c.728-16T>G (n.728-16T>G) c.725-16T>G (n.725-16T>G) c.650-16T>G (n.650-16T>G) c.698-16T>G (n.698-16T>G) c.632-16T>G (n.632-16T>G) c.794-16T>G (n.794-16T>G) c.680-16T>G (n.680-16T>G) c.677-16T>G (n.677-16T>G) c.791-16T>G (n.791-16T>G) c.647-16T>G (n.647-16T>G) c.866-16T>G (n.866-16T>G) c.776-16T>G (n.776-16T>G) | dbSNP |
22 | g.35761312A>T | CA2577701033 | RBFOX2 | c.782-18T>A (n.782-18T>A) c.662-18T>A (n.662-18T>A) c.*193-18T>A (n.*193-18T>A) c.*169-18T>A (n.*169-18T>A) c.*112-18T>A (n.*112-18T>A) c.872-18T>A (n.872-18T>A) c.605-18T>A (n.605-18T>A) c.599-18T>A (n.599-18T>A) c.602-18T>A (n.602-18T>A) c.659-18T>A (n.659-18T>A) c.217-18T>A c.869-18T>A (n.869-18T>A) c.728-18T>A (n.728-18T>A) c.725-18T>A (n.725-18T>A) c.650-18T>A (n.650-18T>A) c.698-18T>A (n.698-18T>A) c.632-18T>A (n.632-18T>A) c.794-18T>A (n.794-18T>A) c.680-18T>A (n.680-18T>A) c.677-18T>A (n.677-18T>A) c.791-18T>A (n.791-18T>A) c.647-18T>A (n.647-18T>A) c.866-18T>A (n.866-18T>A) c.776-18T>A (n.776-18T>A) | |
22 | g.35761313A= | CA2403556548 | RBFOX2 | c.782-19T= (n.782-19T=) c.662-19T= (n.662-19T=) c.*193-19T= (n.*193-19T=) c.*169-19T= (n.*169-19T=) c.*112-19T= (n.*112-19T=) c.872-19T= (n.872-19T=) c.605-19T= (n.605-19T=) c.599-19T= (n.599-19T=) c.602-19T= (n.602-19T=) c.659-19T= (n.659-19T=) c.217-19T= c.869-19T= (n.869-19T=) c.728-19T= (n.728-19T=) c.725-19T= (n.725-19T=) c.650-19T= (n.650-19T=) c.698-19T= (n.698-19T=) c.632-19T= (n.632-19T=) c.794-19T= (n.794-19T=) c.680-19T= (n.680-19T=) c.677-19T= (n.677-19T=) c.791-19T= (n.791-19T=) c.647-19T= (n.647-19T=) c.866-19T= (n.866-19T=) c.776-19T= (n.776-19T=) | |
22 | g.35761313A>G | CA10206833 | RBFOX2 | c.782-19T>C (n.782-19T>C) c.662-19T>C (n.662-19T>C) c.*193-19T>C (n.*193-19T>C) c.*169-19T>C (n.*169-19T>C) c.*112-19T>C (n.*112-19T>C) c.872-19T>C (n.872-19T>C) c.605-19T>C (n.605-19T>C) c.599-19T>C (n.599-19T>C) c.602-19T>C (n.602-19T>C) c.659-19T>C (n.659-19T>C) c.217-19T>C c.869-19T>C (n.869-19T>C) c.728-19T>C (n.728-19T>C) c.725-19T>C (n.725-19T>C) c.650-19T>C (n.650-19T>C) c.698-19T>C (n.698-19T>C) c.632-19T>C (n.632-19T>C) c.794-19T>C (n.794-19T>C) c.680-19T>C (n.680-19T>C) c.677-19T>C (n.677-19T>C) c.791-19T>C (n.791-19T>C) c.647-19T>C (n.647-19T>C) c.866-19T>C (n.866-19T>C) c.776-19T>C (n.776-19T>C) | dbSNP ExAC gnomAD v4 |
22 | g.35761313A>T | CA10206834 | RBFOX2 | c.782-19T>A (n.782-19T>A) c.662-19T>A (n.662-19T>A) c.*193-19T>A (n.*193-19T>A) c.*169-19T>A (n.*169-19T>A) c.*112-19T>A (n.*112-19T>A) c.872-19T>A (n.872-19T>A) c.605-19T>A (n.605-19T>A) c.599-19T>A (n.599-19T>A) c.602-19T>A (n.602-19T>A) c.659-19T>A (n.659-19T>A) c.217-19T>A c.869-19T>A (n.869-19T>A) c.728-19T>A (n.728-19T>A) c.725-19T>A (n.725-19T>A) c.650-19T>A (n.650-19T>A) c.698-19T>A (n.698-19T>A) c.632-19T>A (n.632-19T>A) c.794-19T>A (n.794-19T>A) c.680-19T>A (n.680-19T>A) c.677-19T>A (n.677-19T>A) c.791-19T>A (n.791-19T>A) c.647-19T>A (n.647-19T>A) c.866-19T>A (n.866-19T>A) c.776-19T>A (n.776-19T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761314A= | CA2403556549 | RBFOX2 | c.782-20T= (n.782-20T=) c.662-20T= (n.662-20T=) c.*193-20T= (n.*193-20T=) c.*169-20T= (n.*169-20T=) c.*112-20T= (n.*112-20T=) c.872-20T= (n.872-20T=) c.605-20T= (n.605-20T=) c.599-20T= (n.599-20T=) c.602-20T= (n.602-20T=) c.659-20T= (n.659-20T=) c.217-20T= c.869-20T= (n.869-20T=) c.728-20T= (n.728-20T=) c.725-20T= (n.725-20T=) c.650-20T= (n.650-20T=) c.698-20T= (n.698-20T=) c.632-20T= (n.632-20T=) c.794-20T= (n.794-20T=) c.680-20T= (n.680-20T=) c.677-20T= (n.677-20T=) c.791-20T= (n.791-20T=) c.647-20T= (n.647-20T=) c.866-20T= (n.866-20T=) c.776-20T= (n.776-20T=) | |
22 | g.35761314A>T | CA323545680 | RBFOX2 | c.782-20T>A (n.782-20T>A) c.662-20T>A (n.662-20T>A) c.*193-20T>A (n.*193-20T>A) c.*169-20T>A (n.*169-20T>A) c.*112-20T>A (n.*112-20T>A) c.872-20T>A (n.872-20T>A) c.605-20T>A (n.605-20T>A) c.599-20T>A (n.599-20T>A) c.602-20T>A (n.602-20T>A) c.659-20T>A (n.659-20T>A) c.217-20T>A c.869-20T>A (n.869-20T>A) c.728-20T>A (n.728-20T>A) c.725-20T>A (n.725-20T>A) c.650-20T>A (n.650-20T>A) c.698-20T>A (n.698-20T>A) c.632-20T>A (n.632-20T>A) c.794-20T>A (n.794-20T>A) c.680-20T>A (n.680-20T>A) c.677-20T>A (n.677-20T>A) c.791-20T>A (n.791-20T>A) c.647-20T>A (n.647-20T>A) c.866-20T>A (n.866-20T>A) c.776-20T>A (n.776-20T>A) | dbSNP |
22 | g.35761315T>A | CA639128199 | RBFOX2 | c.782-21A>T (n.782-21A>T) c.662-21A>T (n.662-21A>T) c.*193-21A>T (n.*193-21A>T) c.*169-21A>T (n.*169-21A>T) c.*112-21A>T (n.*112-21A>T) c.872-21A>T (n.872-21A>T) c.605-21A>T (n.605-21A>T) c.599-21A>T (n.599-21A>T) c.602-21A>T (n.602-21A>T) c.659-21A>T (n.659-21A>T) c.217-21A>T c.869-21A>T (n.869-21A>T) c.728-21A>T (n.728-21A>T) c.725-21A>T (n.725-21A>T) c.650-21A>T (n.650-21A>T) c.698-21A>T (n.698-21A>T) c.632-21A>T (n.632-21A>T) c.794-21A>T (n.794-21A>T) c.680-21A>T (n.680-21A>T) c.677-21A>T (n.677-21A>T) c.791-21A>T (n.791-21A>T) c.647-21A>T (n.647-21A>T) c.866-21A>T (n.866-21A>T) c.776-21A>T (n.776-21A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761315T= | CA2403556550 | RBFOX2 | c.782-21A= (n.782-21A=) c.662-21A= (n.662-21A=) c.*193-21A= (n.*193-21A=) c.*169-21A= (n.*169-21A=) c.*112-21A= (n.*112-21A=) c.872-21A= (n.872-21A=) c.605-21A= (n.605-21A=) c.599-21A= (n.599-21A=) c.602-21A= (n.602-21A=) c.659-21A= (n.659-21A=) c.217-21A= c.869-21A= (n.869-21A=) c.728-21A= (n.728-21A=) c.725-21A= (n.725-21A=) c.650-21A= (n.650-21A=) c.698-21A= (n.698-21A=) c.632-21A= (n.632-21A=) c.794-21A= (n.794-21A=) c.680-21A= (n.680-21A=) c.677-21A= (n.677-21A=) c.791-21A= (n.791-21A=) c.647-21A= (n.647-21A=) c.866-21A= (n.866-21A=) c.776-21A= (n.776-21A=) | |
22 | g.35761319A>G | CA2656389524 | RBFOX2 | c.782-25T>C (n.782-25T>C) c.662-25T>C (n.662-25T>C) c.*193-25T>C (n.*193-25T>C) c.*169-25T>C (n.*169-25T>C) c.*112-25T>C (n.*112-25T>C) c.872-25T>C (n.872-25T>C) c.605-25T>C (n.605-25T>C) c.599-25T>C (n.599-25T>C) c.602-25T>C (n.602-25T>C) c.659-25T>C (n.659-25T>C) c.217-25T>C c.869-25T>C (n.869-25T>C) c.728-25T>C (n.728-25T>C) c.725-25T>C (n.725-25T>C) c.650-25T>C (n.650-25T>C) c.698-25T>C (n.698-25T>C) c.632-25T>C (n.632-25T>C) c.794-25T>C (n.794-25T>C) c.680-25T>C (n.680-25T>C) c.677-25T>C (n.677-25T>C) c.791-25T>C (n.791-25T>C) c.647-25T>C (n.647-25T>C) c.866-25T>C (n.866-25T>C) c.776-25T>C (n.776-25T>C) | gnomAD v4 |
22 | g.35761320_35761341delinsAAATGCAAGAAGATTAAAAAGG | CA2403556551 | RBFOX2 | c.782-47_782-26delinsCCTTTTTAATCTTCTTGCATTT (n.782-47_782-26delinsCCTTTTTAATCTTCTTGCATTT) c.662-47_662-26delinsCCTTTTTAATCTTCTTGCATTT (n.662-47_662-26delinsCCTTTTTAATCTTCTTGCATTT) c.*193-47_*193-26delinsCCTTTTTAATCTTCTTGCATTT (n.*193-47_*193-26delinsCCTTTTTAATCTTCTTGCATTT) c.*169-47_*169-26delinsCCTTTTTAATCTTCTTGCATTT (n.*169-47_*169-26delinsCCTTTTTAATCTTCTTGCATTT) c.*112-47_*112-26delinsCCTTTTTAATCTTCTTGCATTT (n.*112-47_*112-26delinsCCTTTTTAATCTTCTTGCATTT) c.872-47_872-26delinsCCTTTTTAATCTTCTTGCATTT (n.872-47_872-26delinsCCTTTTTAATCTTCTTGCATTT) c.605-47_605-26delinsCCTTTTTAATCTTCTTGCATTT (n.605-47_605-26delinsCCTTTTTAATCTTCTTGCATTT) c.599-47_599-26delinsCCTTTTTAATCTTCTTGCATTT (n.599-47_599-26delinsCCTTTTTAATCTTCTTGCATTT) c.602-47_602-26delinsCCTTTTTAATCTTCTTGCATTT (n.602-47_602-26delinsCCTTTTTAATCTTCTTGCATTT) c.659-47_659-26delinsCCTTTTTAATCTTCTTGCATTT (n.659-47_659-26delinsCCTTTTTAATCTTCTTGCATTT) c.217-47_217-26delinsCCTTTTTAATCTTCTTGCATTT c.869-47_869-26delinsCCTTTTTAATCTTCTTGCATTT (n.869-47_869-26delinsCCTTTTTAATCTTCTTGCATTT) c.728-47_728-26delinsCCTTTTTAATCTTCTTGCATTT (n.728-47_728-26delinsCCTTTTTAATCTTCTTGCATTT) c.725-47_725-26delinsCCTTTTTAATCTTCTTGCATTT (n.725-47_725-26delinsCCTTTTTAATCTTCTTGCATTT) c.650-47_650-26delinsCCTTTTTAATCTTCTTGCATTT (n.650-47_650-26delinsCCTTTTTAATCTTCTTGCATTT) c.698-47_698-26delinsCCTTTTTAATCTTCTTGCATTT (n.698-47_698-26delinsCCTTTTTAATCTTCTTGCATTT) c.632-47_632-26delinsCCTTTTTAATCTTCTTGCATTT (n.632-47_632-26delinsCCTTTTTAATCTTCTTGCATTT) c.794-47_794-26delinsCCTTTTTAATCTTCTTGCATTT (n.794-47_794-26delinsCCTTTTTAATCTTCTTGCATTT) c.680-47_680-26delinsCCTTTTTAATCTTCTTGCATTT (n.680-47_680-26delinsCCTTTTTAATCTTCTTGCATTT) c.677-47_677-26delinsCCTTTTTAATCTTCTTGCATTT (n.677-47_677-26delinsCCTTTTTAATCTTCTTGCATTT) c.791-47_791-26delinsCCTTTTTAATCTTCTTGCATTT (n.791-47_791-26delinsCCTTTTTAATCTTCTTGCATTT) c.647-47_647-26delinsCCTTTTTAATCTTCTTGCATTT (n.647-47_647-26delinsCCTTTTTAATCTTCTTGCATTT) c.866-47_866-26delinsCCTTTTTAATCTTCTTGCATTT (n.866-47_866-26delinsCCTTTTTAATCTTCTTGCATTT) c.776-47_776-26delinsCCTTTTTAATCTTCTTGCATTT (n.776-47_776-26delinsCCTTTTTAATCTTCTTGCATTT) | |
22 | g.35761321A>G | CA2577701034 | RBFOX2 | c.782-27T>C (n.782-27T>C) c.662-27T>C (n.662-27T>C) c.*193-27T>C (n.*193-27T>C) c.*169-27T>C (n.*169-27T>C) c.*112-27T>C (n.*112-27T>C) c.872-27T>C (n.872-27T>C) c.605-27T>C (n.605-27T>C) c.599-27T>C (n.599-27T>C) c.602-27T>C (n.602-27T>C) c.659-27T>C (n.659-27T>C) c.217-27T>C c.869-27T>C (n.869-27T>C) c.728-27T>C (n.728-27T>C) c.725-27T>C (n.725-27T>C) c.650-27T>C (n.650-27T>C) c.698-27T>C (n.698-27T>C) c.632-27T>C (n.632-27T>C) c.794-27T>C (n.794-27T>C) c.680-27T>C (n.680-27T>C) c.677-27T>C (n.677-27T>C) c.791-27T>C (n.791-27T>C) c.647-27T>C (n.647-27T>C) c.866-27T>C (n.866-27T>C) c.776-27T>C (n.776-27T>C) | |
22 | g.35761322_35761342del | CA10206835 | RBFOX2 | c.782-47_782-27del (n.782-47_782-27del) c.662-47_662-27del (n.662-47_662-27del) c.*193-47_*193-27del (n.*193-47_*193-27del) c.*169-47_*169-27del (n.*169-47_*169-27del) c.*112-47_*112-27del (n.*112-47_*112-27del) c.872-47_872-27del (n.872-47_872-27del) c.605-47_605-27del (n.605-47_605-27del) c.599-47_599-27del (n.599-47_599-27del) c.602-47_602-27del (n.602-47_602-27del) c.659-47_659-27del (n.659-47_659-27del) c.217-47_217-27del c.869-47_869-27del (n.869-47_869-27del) c.728-47_728-27del (n.728-47_728-27del) c.725-47_725-27del (n.725-47_725-27del) c.650-47_650-27del (n.650-47_650-27del) c.698-47_698-27del (n.698-47_698-27del) c.632-47_632-27del (n.632-47_632-27del) c.794-47_794-27del (n.794-47_794-27del) c.680-47_680-27del (n.680-47_680-27del) c.677-47_677-27del (n.677-47_677-27del) c.791-47_791-27del (n.791-47_791-27del) c.647-47_647-27del (n.647-47_647-27del) c.866-47_866-27del (n.866-47_866-27del) c.776-47_776-27del (n.776-47_776-27del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.35761323T>G | CA323545691 | RBFOX2 | c.782-29A>C (n.782-29A>C) c.662-29A>C (n.662-29A>C) c.*193-29A>C (n.*193-29A>C) c.*169-29A>C (n.*169-29A>C) c.*112-29A>C (n.*112-29A>C) c.872-29A>C (n.872-29A>C) c.605-29A>C (n.605-29A>C) c.599-29A>C (n.599-29A>C) c.602-29A>C (n.602-29A>C) c.659-29A>C (n.659-29A>C) c.217-29A>C c.869-29A>C (n.869-29A>C) c.728-29A>C (n.728-29A>C) c.725-29A>C (n.725-29A>C) c.650-29A>C (n.650-29A>C) c.698-29A>C (n.698-29A>C) c.632-29A>C (n.632-29A>C) c.794-29A>C (n.794-29A>C) c.680-29A>C (n.680-29A>C) c.677-29A>C (n.677-29A>C) c.791-29A>C (n.791-29A>C) c.647-29A>C (n.647-29A>C) c.866-29A>C (n.866-29A>C) c.776-29A>C (n.776-29A>C) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.35761323T= | CA2403556552 | RBFOX2 | c.782-29A= (n.782-29A=) c.662-29A= (n.662-29A=) c.*193-29A= (n.*193-29A=) c.*169-29A= (n.*169-29A=) c.*112-29A= (n.*112-29A=) c.872-29A= (n.872-29A=) c.605-29A= (n.605-29A=) c.599-29A= (n.599-29A=) c.602-29A= (n.602-29A=) c.659-29A= (n.659-29A=) c.217-29A= c.869-29A= (n.869-29A=) c.728-29A= (n.728-29A=) c.725-29A= (n.725-29A=) c.650-29A= (n.650-29A=) c.698-29A= (n.698-29A=) c.632-29A= (n.632-29A=) c.794-29A= (n.794-29A=) c.680-29A= (n.680-29A=) c.677-29A= (n.677-29A=) c.791-29A= (n.791-29A=) c.647-29A= (n.647-29A=) c.866-29A= (n.866-29A=) c.776-29A= (n.776-29A=) | |
22 | g.35761324G>C | CA2577701035 | RBFOX2 | c.782-30C>G (n.782-30C>G) c.662-30C>G (n.662-30C>G) c.*193-30C>G (n.*193-30C>G) c.*169-30C>G (n.*169-30C>G) c.*112-30C>G (n.*112-30C>G) c.872-30C>G (n.872-30C>G) c.605-30C>G (n.605-30C>G) c.599-30C>G (n.599-30C>G) c.602-30C>G (n.602-30C>G) c.659-30C>G (n.659-30C>G) c.217-30C>G c.869-30C>G (n.869-30C>G) c.728-30C>G (n.728-30C>G) c.725-30C>G (n.725-30C>G) c.650-30C>G (n.650-30C>G) c.698-30C>G (n.698-30C>G) c.632-30C>G (n.632-30C>G) c.794-30C>G (n.794-30C>G) c.680-30C>G (n.680-30C>G) c.677-30C>G (n.677-30C>G) c.791-30C>G (n.791-30C>G) c.647-30C>G (n.647-30C>G) c.866-30C>G (n.866-30C>G) c.776-30C>G (n.776-30C>G) | |
22 | g.35761324G= | CA2403556553 | RBFOX2 | c.782-30C= (n.782-30C=) c.662-30C= (n.662-30C=) c.*193-30C= (n.*193-30C=) c.*169-30C= (n.*169-30C=) c.*112-30C= (n.*112-30C=) c.872-30C= (n.872-30C=) c.605-30C= (n.605-30C=) c.599-30C= (n.599-30C=) c.602-30C= (n.602-30C=) c.659-30C= (n.659-30C=) c.217-30C= c.869-30C= (n.869-30C=) c.728-30C= (n.728-30C=) c.725-30C= (n.725-30C=) c.650-30C= (n.650-30C=) c.698-30C= (n.698-30C=) c.632-30C= (n.632-30C=) c.794-30C= (n.794-30C=) c.680-30C= (n.680-30C=) c.677-30C= (n.677-30C=) c.791-30C= (n.791-30C=) c.647-30C= (n.647-30C=) c.866-30C= (n.866-30C=) c.776-30C= (n.776-30C=) | |
22 | g.35761324G>T | CA752814823 | RBFOX2 | c.782-30C>A (n.782-30C>A) c.662-30C>A (n.662-30C>A) c.*193-30C>A (n.*193-30C>A) c.*169-30C>A (n.*169-30C>A) c.*112-30C>A (n.*112-30C>A) c.872-30C>A (n.872-30C>A) c.605-30C>A (n.605-30C>A) c.599-30C>A (n.599-30C>A) c.602-30C>A (n.602-30C>A) c.659-30C>A (n.659-30C>A) c.217-30C>A c.869-30C>A (n.869-30C>A) c.728-30C>A (n.728-30C>A) c.725-30C>A (n.725-30C>A) c.650-30C>A (n.650-30C>A) c.698-30C>A (n.698-30C>A) c.632-30C>A (n.632-30C>A) c.794-30C>A (n.794-30C>A) c.680-30C>A (n.680-30C>A) c.677-30C>A (n.677-30C>A) c.791-30C>A (n.791-30C>A) c.647-30C>A (n.647-30C>A) c.866-30C>A (n.866-30C>A) c.776-30C>A (n.776-30C>A) | dbSNP gnomAD v4 |
22 | g.35761325C= | CA2403556555 | RBFOX2 | c.782-31G= (n.782-31G=) c.662-31G= (n.662-31G=) c.*193-31G= (n.*193-31G=) c.*169-31G= (n.*169-31G=) c.*112-31G= (n.*112-31G=) c.872-31G= (n.872-31G=) c.605-31G= (n.605-31G=) c.599-31G= (n.599-31G=) c.602-31G= (n.602-31G=) c.659-31G= (n.659-31G=) c.217-31G= c.869-31G= (n.869-31G=) c.728-31G= (n.728-31G=) c.725-31G= (n.725-31G=) c.650-31G= (n.650-31G=) c.698-31G= (n.698-31G=) c.632-31G= (n.632-31G=) c.794-31G= (n.794-31G=) c.680-31G= (n.680-31G=) c.677-31G= (n.677-31G=) c.791-31G= (n.791-31G=) c.647-31G= (n.647-31G=) c.866-31G= (n.866-31G=) c.776-31G= (n.776-31G=) | |
22 | g.35761325C>T | CA10206836 | RBFOX2 | c.782-31G>A (n.782-31G>A) c.662-31G>A (n.662-31G>A) c.*193-31G>A (n.*193-31G>A) c.*169-31G>A (n.*169-31G>A) c.*112-31G>A (n.*112-31G>A) c.872-31G>A (n.872-31G>A) c.605-31G>A (n.605-31G>A) c.599-31G>A (n.599-31G>A) c.602-31G>A (n.602-31G>A) c.659-31G>A (n.659-31G>A) c.217-31G>A c.869-31G>A (n.869-31G>A) c.728-31G>A (n.728-31G>A) c.725-31G>A (n.725-31G>A) c.650-31G>A (n.650-31G>A) c.698-31G>A (n.698-31G>A) c.632-31G>A (n.632-31G>A) c.794-31G>A (n.794-31G>A) c.680-31G>A (n.680-31G>A) c.677-31G>A (n.677-31G>A) c.791-31G>A (n.791-31G>A) c.647-31G>A (n.647-31G>A) c.866-31G>A (n.866-31G>A) c.776-31G>A (n.776-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761325dup | CA639128207 | RBFOX2 | c.782-31dup (n.782-31dup) c.662-31dup (n.662-31dup) c.*193-31dup (n.*193-31dup) c.*169-31dup (n.*169-31dup) c.*112-31dup (n.*112-31dup) c.872-31dup (n.872-31dup) c.605-31dup (n.605-31dup) c.599-31dup (n.599-31dup) c.602-31dup (n.602-31dup) c.659-31dup (n.659-31dup) c.217-31dup c.869-31dup (n.869-31dup) c.728-31dup (n.728-31dup) c.725-31dup (n.725-31dup) c.650-31dup (n.650-31dup) c.698-31dup (n.698-31dup) c.632-31dup (n.632-31dup) c.794-31dup (n.794-31dup) c.680-31dup (n.680-31dup) c.677-31dup (n.677-31dup) c.791-31dup (n.791-31dup) c.647-31dup (n.647-31dup) c.866-31dup (n.866-31dup) c.776-31dup (n.776-31dup) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.35761325_35761328delinsCAAG | CA2403556554 | RBFOX2 | c.782-34_782-31delinsCTTG (n.782-34_782-31delinsCTTG) c.662-34_662-31delinsCTTG (n.662-34_662-31delinsCTTG) c.*193-34_*193-31delinsCTTG (n.*193-34_*193-31delinsCTTG) c.*169-34_*169-31delinsCTTG (n.*169-34_*169-31delinsCTTG) c.*112-34_*112-31delinsCTTG (n.*112-34_*112-31delinsCTTG) c.872-34_872-31delinsCTTG (n.872-34_872-31delinsCTTG) c.605-34_605-31delinsCTTG (n.605-34_605-31delinsCTTG) c.599-34_599-31delinsCTTG (n.599-34_599-31delinsCTTG) c.602-34_602-31delinsCTTG (n.602-34_602-31delinsCTTG) c.659-34_659-31delinsCTTG (n.659-34_659-31delinsCTTG) c.217-34_217-31delinsCTTG c.869-34_869-31delinsCTTG (n.869-34_869-31delinsCTTG) c.728-34_728-31delinsCTTG (n.728-34_728-31delinsCTTG) c.725-34_725-31delinsCTTG (n.725-34_725-31delinsCTTG) c.650-34_650-31delinsCTTG (n.650-34_650-31delinsCTTG) c.698-34_698-31delinsCTTG (n.698-34_698-31delinsCTTG) c.632-34_632-31delinsCTTG (n.632-34_632-31delinsCTTG) c.794-34_794-31delinsCTTG (n.794-34_794-31delinsCTTG) c.680-34_680-31delinsCTTG (n.680-34_680-31delinsCTTG) c.677-34_677-31delinsCTTG (n.677-34_677-31delinsCTTG) c.791-34_791-31delinsCTTG (n.791-34_791-31delinsCTTG) c.647-34_647-31delinsCTTG (n.647-34_647-31delinsCTTG) c.866-34_866-31delinsCTTG (n.866-34_866-31delinsCTTG) c.776-34_776-31delinsCTTG (n.776-34_776-31delinsCTTG) | |
22 | g.35761326A>G | CA2656389525 | RBFOX2 | c.782-32T>C (n.782-32T>C) c.662-32T>C (n.662-32T>C) c.*193-32T>C (n.*193-32T>C) c.*169-32T>C (n.*169-32T>C) c.*112-32T>C (n.*112-32T>C) c.872-32T>C (n.872-32T>C) c.605-32T>C (n.605-32T>C) c.599-32T>C (n.599-32T>C) c.602-32T>C (n.602-32T>C) c.659-32T>C (n.659-32T>C) c.217-32T>C c.869-32T>C (n.869-32T>C) c.728-32T>C (n.728-32T>C) c.725-32T>C (n.725-32T>C) c.650-32T>C (n.650-32T>C) c.698-32T>C (n.698-32T>C) c.632-32T>C (n.632-32T>C) c.794-32T>C (n.794-32T>C) c.680-32T>C (n.680-32T>C) c.677-32T>C (n.677-32T>C) c.791-32T>C (n.791-32T>C) c.647-32T>C (n.647-32T>C) c.866-32T>C (n.866-32T>C) c.776-32T>C (n.776-32T>C) | gnomAD v4 |
22 | g.35761330_35761332del | CA2403556556 | RBFOX2 | c.782-34_782-32del (n.782-34_782-32del) c.662-34_662-32del (n.662-34_662-32del) c.*193-34_*193-32del (n.*193-34_*193-32del) c.*169-34_*169-32del (n.*169-34_*169-32del) c.*112-34_*112-32del (n.*112-34_*112-32del) c.872-34_872-32del (n.872-34_872-32del) c.605-34_605-32del (n.605-34_605-32del) c.599-34_599-32del (n.599-34_599-32del) c.602-34_602-32del (n.602-34_602-32del) c.659-34_659-32del (n.659-34_659-32del) c.217-34_217-32del c.869-34_869-32del (n.869-34_869-32del) c.728-34_728-32del (n.728-34_728-32del) c.725-34_725-32del (n.725-34_725-32del) c.650-34_650-32del (n.650-34_650-32del) c.698-34_698-32del (n.698-34_698-32del) c.632-34_632-32del (n.632-34_632-32del) c.794-34_794-32del (n.794-34_794-32del) c.680-34_680-32del (n.680-34_680-32del) c.677-34_677-32del (n.677-34_677-32del) c.791-34_791-32del (n.791-34_791-32del) c.647-34_647-32del (n.647-34_647-32del) c.866-34_866-32del (n.866-34_866-32del) c.776-34_776-32del (n.776-34_776-32del) | dbSNP gnomAD v4 |
22 | g.35761327A>G | CA2577701036 | RBFOX2 | c.782-33T>C (n.782-33T>C) c.662-33T>C (n.662-33T>C) c.*193-33T>C (n.*193-33T>C) c.*169-33T>C (n.*169-33T>C) c.*112-33T>C (n.*112-33T>C) c.872-33T>C (n.872-33T>C) c.605-33T>C (n.605-33T>C) c.599-33T>C (n.599-33T>C) c.602-33T>C (n.602-33T>C) c.659-33T>C (n.659-33T>C) c.217-33T>C c.869-33T>C (n.869-33T>C) c.728-33T>C (n.728-33T>C) c.725-33T>C (n.725-33T>C) c.650-33T>C (n.650-33T>C) c.698-33T>C (n.698-33T>C) c.632-33T>C (n.632-33T>C) c.794-33T>C (n.794-33T>C) c.680-33T>C (n.680-33T>C) c.677-33T>C (n.677-33T>C) c.791-33T>C (n.791-33T>C) c.647-33T>C (n.647-33T>C) c.866-33T>C (n.866-33T>C) c.776-33T>C (n.776-33T>C) | gnomAD v4 |
22 | g.35761328G>A | CA10206837 | RBFOX2 | c.782-34C>T (n.782-34C>T) c.662-34C>T (n.662-34C>T) c.*193-34C>T (n.*193-34C>T) c.*169-34C>T (n.*169-34C>T) c.*112-34C>T (n.*112-34C>T) c.872-34C>T (n.872-34C>T) c.605-34C>T (n.605-34C>T) c.599-34C>T (n.599-34C>T) c.602-34C>T (n.602-34C>T) c.659-34C>T (n.659-34C>T) c.217-34C>T c.869-34C>T (n.869-34C>T) c.728-34C>T (n.728-34C>T) c.725-34C>T (n.725-34C>T) c.650-34C>T (n.650-34C>T) c.698-34C>T (n.698-34C>T) c.632-34C>T (n.632-34C>T) c.794-34C>T (n.794-34C>T) c.680-34C>T (n.680-34C>T) c.677-34C>T (n.677-34C>T) c.791-34C>T (n.791-34C>T) c.647-34C>T (n.647-34C>T) c.866-34C>T (n.866-34C>T) c.776-34C>T (n.776-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761328G= | CA2403556557 | RBFOX2 | c.782-34C= (n.782-34C=) c.662-34C= (n.662-34C=) c.*193-34C= (n.*193-34C=) c.*169-34C= (n.*169-34C=) c.*112-34C= (n.*112-34C=) c.872-34C= (n.872-34C=) c.605-34C= (n.605-34C=) c.599-34C= (n.599-34C=) c.602-34C= (n.602-34C=) c.659-34C= (n.659-34C=) c.217-34C= c.869-34C= (n.869-34C=) c.728-34C= (n.728-34C=) c.725-34C= (n.725-34C=) c.650-34C= (n.650-34C=) c.698-34C= (n.698-34C=) c.632-34C= (n.632-34C=) c.794-34C= (n.794-34C=) c.680-34C= (n.680-34C=) c.677-34C= (n.677-34C=) c.791-34C= (n.791-34C=) c.647-34C= (n.647-34C=) c.866-34C= (n.866-34C=) c.776-34C= (n.776-34C=) | |
22 | g.35761329A= | CA2403556558 | RBFOX2 | c.782-35T= (n.782-35T=) c.662-35T= (n.662-35T=) c.*193-35T= (n.*193-35T=) c.*169-35T= (n.*169-35T=) c.*112-35T= (n.*112-35T=) c.872-35T= (n.872-35T=) c.605-35T= (n.605-35T=) c.599-35T= (n.599-35T=) c.602-35T= (n.602-35T=) c.659-35T= (n.659-35T=) c.217-35T= c.869-35T= (n.869-35T=) c.728-35T= (n.728-35T=) c.725-35T= (n.725-35T=) c.650-35T= (n.650-35T=) c.698-35T= (n.698-35T=) c.632-35T= (n.632-35T=) c.794-35T= (n.794-35T=) c.680-35T= (n.680-35T=) c.677-35T= (n.677-35T=) c.791-35T= (n.791-35T=) c.647-35T= (n.647-35T=) c.866-35T= (n.866-35T=) c.776-35T= (n.776-35T=) | |
22 | g.35761329A>C | CA10206838 | RBFOX2 | c.782-35T>G (n.782-35T>G) c.662-35T>G (n.662-35T>G) c.*193-35T>G (n.*193-35T>G) c.*169-35T>G (n.*169-35T>G) c.*112-35T>G (n.*112-35T>G) c.872-35T>G (n.872-35T>G) c.605-35T>G (n.605-35T>G) c.599-35T>G (n.599-35T>G) c.602-35T>G (n.602-35T>G) c.659-35T>G (n.659-35T>G) c.217-35T>G c.869-35T>G (n.869-35T>G) c.728-35T>G (n.728-35T>G) c.725-35T>G (n.725-35T>G) c.650-35T>G (n.650-35T>G) c.698-35T>G (n.698-35T>G) c.632-35T>G (n.632-35T>G) c.794-35T>G (n.794-35T>G) c.680-35T>G (n.680-35T>G) c.677-35T>G (n.677-35T>G) c.791-35T>G (n.791-35T>G) c.647-35T>G (n.647-35T>G) c.866-35T>G (n.866-35T>G) c.776-35T>G (n.776-35T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761330del | CA2656389526 | RBFOX2 | c.782-35del (n.782-35del) c.662-35del (n.662-35del) c.*193-35del (n.*193-35del) c.*169-35del (n.*169-35del) c.*112-35del (n.*112-35del) c.872-35del (n.872-35del) c.605-35del (n.605-35del) c.599-35del (n.599-35del) c.602-35del (n.602-35del) c.659-35del (n.659-35del) c.217-35del c.869-35del (n.869-35del) c.728-35del (n.728-35del) c.725-35del (n.725-35del) c.650-35del (n.650-35del) c.698-35del (n.698-35del) c.632-35del (n.632-35del) c.794-35del (n.794-35del) c.680-35del (n.680-35del) c.677-35del (n.677-35del) c.791-35del (n.791-35del) c.647-35del (n.647-35del) c.866-35del (n.866-35del) c.776-35del (n.776-35del) | gnomAD v4 |
22 | g.35761331G>C | CA10206839 | RBFOX2 | c.782-37C>G (n.782-37C>G) c.662-37C>G (n.662-37C>G) c.*193-37C>G (n.*193-37C>G) c.*169-37C>G (n.*169-37C>G) c.*112-37C>G (n.*112-37C>G) c.872-37C>G (n.872-37C>G) c.605-37C>G (n.605-37C>G) c.599-37C>G (n.599-37C>G) c.602-37C>G (n.602-37C>G) c.659-37C>G (n.659-37C>G) c.217-37C>G c.869-37C>G (n.869-37C>G) c.728-37C>G (n.728-37C>G) c.725-37C>G (n.725-37C>G) c.650-37C>G (n.650-37C>G) c.698-37C>G (n.698-37C>G) c.632-37C>G (n.632-37C>G) c.794-37C>G (n.794-37C>G) c.680-37C>G (n.680-37C>G) c.677-37C>G (n.677-37C>G) c.791-37C>G (n.791-37C>G) c.647-37C>G (n.647-37C>G) c.866-37C>G (n.866-37C>G) c.776-37C>G (n.776-37C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761331G= | CA2403556559 | RBFOX2 | c.782-37C= (n.782-37C=) c.662-37C= (n.662-37C=) c.*193-37C= (n.*193-37C=) c.*169-37C= (n.*169-37C=) c.*112-37C= (n.*112-37C=) c.872-37C= (n.872-37C=) c.605-37C= (n.605-37C=) c.599-37C= (n.599-37C=) c.602-37C= (n.602-37C=) c.659-37C= (n.659-37C=) c.217-37C= c.869-37C= (n.869-37C=) c.728-37C= (n.728-37C=) c.725-37C= (n.725-37C=) c.650-37C= (n.650-37C=) c.698-37C= (n.698-37C=) c.632-37C= (n.632-37C=) c.794-37C= (n.794-37C=) c.680-37C= (n.680-37C=) c.677-37C= (n.677-37C=) c.791-37C= (n.791-37C=) c.647-37C= (n.647-37C=) c.866-37C= (n.866-37C=) c.776-37C= (n.776-37C=) | |
22 | g.35761332_35761334delinsATT | CA2403556560 | RBFOX2 | c.782-40_782-38delinsAAT (n.782-40_782-38delinsAAT) c.662-40_662-38delinsAAT (n.662-40_662-38delinsAAT) c.*193-40_*193-38delinsAAT (n.*193-40_*193-38delinsAAT) c.*169-40_*169-38delinsAAT (n.*169-40_*169-38delinsAAT) c.*112-40_*112-38delinsAAT (n.*112-40_*112-38delinsAAT) c.872-40_872-38delinsAAT (n.872-40_872-38delinsAAT) c.605-40_605-38delinsAAT (n.605-40_605-38delinsAAT) c.599-40_599-38delinsAAT (n.599-40_599-38delinsAAT) c.602-40_602-38delinsAAT (n.602-40_602-38delinsAAT) c.659-40_659-38delinsAAT (n.659-40_659-38delinsAAT) c.217-40_217-38delinsAAT c.869-40_869-38delinsAAT (n.869-40_869-38delinsAAT) c.728-40_728-38delinsAAT (n.728-40_728-38delinsAAT) c.725-40_725-38delinsAAT (n.725-40_725-38delinsAAT) c.650-40_650-38delinsAAT (n.650-40_650-38delinsAAT) c.698-40_698-38delinsAAT (n.698-40_698-38delinsAAT) c.632-40_632-38delinsAAT (n.632-40_632-38delinsAAT) c.794-40_794-38delinsAAT (n.794-40_794-38delinsAAT) c.680-40_680-38delinsAAT (n.680-40_680-38delinsAAT) c.677-40_677-38delinsAAT (n.677-40_677-38delinsAAT) c.791-40_791-38delinsAAT (n.791-40_791-38delinsAAT) c.647-40_647-38delinsAAT (n.647-40_647-38delinsAAT) c.866-40_866-38delinsAAT (n.866-40_866-38delinsAAT) c.776-40_776-38delinsAAT (n.776-40_776-38delinsAAT) | |
22 | g.35761333_35761334del | CA10206840 | RBFOX2 | c.782-40_782-39del (n.782-40_782-39del) c.662-40_662-39del (n.662-40_662-39del) c.*193-40_*193-39del (n.*193-40_*193-39del) c.*169-40_*169-39del (n.*169-40_*169-39del) c.*112-40_*112-39del (n.*112-40_*112-39del) c.872-40_872-39del (n.872-40_872-39del) c.605-40_605-39del (n.605-40_605-39del) c.599-40_599-39del (n.599-40_599-39del) c.602-40_602-39del (n.602-40_602-39del) c.659-40_659-39del (n.659-40_659-39del) c.217-40_217-39del c.869-40_869-39del (n.869-40_869-39del) c.728-40_728-39del (n.728-40_728-39del) c.725-40_725-39del (n.725-40_725-39del) c.650-40_650-39del (n.650-40_650-39del) c.698-40_698-39del (n.698-40_698-39del) c.632-40_632-39del (n.632-40_632-39del) c.794-40_794-39del (n.794-40_794-39del) c.680-40_680-39del (n.680-40_680-39del) c.677-40_677-39del (n.677-40_677-39del) c.791-40_791-39del (n.791-40_791-39del) c.647-40_647-39del (n.647-40_647-39del) c.866-40_866-39del (n.866-40_866-39del) c.776-40_776-39del (n.776-40_776-39del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.35761334_35761335insCTTAAGTTTTTCTTTTGTTGCAAATTCCTCCC | CA2567902565 | RBFOX2 | c.782-41_782-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.782-41_782-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.662-41_662-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.662-41_662-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.*193-41_*193-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.*193-41_*193-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.*169-41_*169-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.*169-41_*169-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.*112-41_*112-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.*112-41_*112-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.872-41_872-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.872-41_872-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.605-41_605-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.605-41_605-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.599-41_599-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.599-41_599-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.602-41_602-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.602-41_602-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.659-41_659-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.659-41_659-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.217-41_217-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG c.869-41_869-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.869-41_869-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.728-41_728-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.728-41_728-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.725-41_725-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.725-41_725-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.650-41_650-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.650-41_650-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.698-41_698-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.698-41_698-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.632-41_632-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.632-41_632-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.794-41_794-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.794-41_794-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.680-41_680-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.680-41_680-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.677-41_677-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.677-41_677-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.791-41_791-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.791-41_791-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.647-41_647-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.647-41_647-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.866-41_866-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.866-41_866-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) c.776-41_776-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG (n.776-41_776-40insGGGAGGAATTTGCAACAAAAGAAAAACTTAAG) | |
22 | g.35761335A>G | CA2656389527 | RBFOX2 | c.782-41T>C (n.782-41T>C) c.662-41T>C (n.662-41T>C) c.*193-41T>C (n.*193-41T>C) c.*169-41T>C (n.*169-41T>C) c.*112-41T>C (n.*112-41T>C) c.872-41T>C (n.872-41T>C) c.605-41T>C (n.605-41T>C) c.599-41T>C (n.599-41T>C) c.602-41T>C (n.602-41T>C) c.659-41T>C (n.659-41T>C) c.217-41T>C c.869-41T>C (n.869-41T>C) c.728-41T>C (n.728-41T>C) c.725-41T>C (n.725-41T>C) c.650-41T>C (n.650-41T>C) c.698-41T>C (n.698-41T>C) c.632-41T>C (n.632-41T>C) c.794-41T>C (n.794-41T>C) c.680-41T>C (n.680-41T>C) c.677-41T>C (n.677-41T>C) c.791-41T>C (n.791-41T>C) c.647-41T>C (n.647-41T>C) c.866-41T>C (n.866-41T>C) c.776-41T>C (n.776-41T>C) | gnomAD v4 |
22 | g.35761335_35761336insTGAGTGTATTTTCTGTGTGGTGGATTTACATGCCATCACTGTACGTCAAGATCCTGCGGCACTTCGCAAAGCAACGCTTGATGTACTCGCCCTTTACTTGGCTTGTGGCATTGATCCGAAT | CA2741715967 | RBFOX2 | c.782-42_782-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.782-42_782-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.662-42_662-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.662-42_662-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.*193-42_*193-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.*193-42_*193-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.*169-42_*169-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.*169-42_*169-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.*112-42_*112-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.*112-42_*112-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.872-42_872-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.872-42_872-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.605-42_605-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.605-42_605-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.599-42_599-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.599-42_599-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.602-42_602-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.602-42_602-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.659-42_659-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.659-42_659-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.217-42_217-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA c.869-42_869-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.869-42_869-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.728-42_728-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.728-42_728-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.725-42_725-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.725-42_725-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.650-42_650-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.650-42_650-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.698-42_698-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.698-42_698-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.632-42_632-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.632-42_632-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.794-42_794-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.794-42_794-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.680-42_680-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.680-42_680-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.677-42_677-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.677-42_677-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.791-42_791-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.791-42_791-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.647-42_647-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.647-42_647-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.866-42_866-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.866-42_866-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) c.776-42_776-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA (n.776-42_776-41insATTCGGATCAATGCCACAAGCCAAGTAAAGGGCGAGTACATCAAGCGTTGCTTTGCGAAGTGCCGCAGGATCTTGACGTACAGTGATGGCATGTAAATCCACCACACAGAAAATACACTCA) | |
22 | g.35761336A>G | CA2656389528 | RBFOX2 | c.782-42T>C (n.782-42T>C) c.662-42T>C (n.662-42T>C) c.*193-42T>C (n.*193-42T>C) c.*169-42T>C (n.*169-42T>C) c.*112-42T>C (n.*112-42T>C) c.872-42T>C (n.872-42T>C) c.605-42T>C (n.605-42T>C) c.599-42T>C (n.599-42T>C) c.602-42T>C (n.602-42T>C) c.659-42T>C (n.659-42T>C) c.217-42T>C c.869-42T>C (n.869-42T>C) c.728-42T>C (n.728-42T>C) c.725-42T>C (n.725-42T>C) c.650-42T>C (n.650-42T>C) c.698-42T>C (n.698-42T>C) c.632-42T>C (n.632-42T>C) c.794-42T>C (n.794-42T>C) c.680-42T>C (n.680-42T>C) c.677-42T>C (n.677-42T>C) c.791-42T>C (n.791-42T>C) c.647-42T>C (n.647-42T>C) c.866-42T>C (n.866-42T>C) c.776-42T>C (n.776-42T>C) | gnomAD v4 |
22 | g.35761338A= | CA2403556561 | RBFOX2 | c.782-44T= (n.782-44T=) c.662-44T= (n.662-44T=) c.*193-44T= (n.*193-44T=) c.*169-44T= (n.*169-44T=) c.*112-44T= (n.*112-44T=) c.872-44T= (n.872-44T=) c.605-44T= (n.605-44T=) c.599-44T= (n.599-44T=) c.602-44T= (n.602-44T=) c.659-44T= (n.659-44T=) c.217-44T= c.869-44T= (n.869-44T=) c.728-44T= (n.728-44T=) c.725-44T= (n.725-44T=) c.650-44T= (n.650-44T=) c.698-44T= (n.698-44T=) c.632-44T= (n.632-44T=) c.794-44T= (n.794-44T=) c.680-44T= (n.680-44T=) c.677-44T= (n.677-44T=) c.791-44T= (n.791-44T=) c.647-44T= (n.647-44T=) c.866-44T= (n.866-44T=) c.776-44T= (n.776-44T=) | |
22 | g.35761338A>C | CA2656389529 | RBFOX2 | c.782-44T>G (n.782-44T>G) c.662-44T>G (n.662-44T>G) c.*193-44T>G (n.*193-44T>G) c.*169-44T>G (n.*169-44T>G) c.*112-44T>G (n.*112-44T>G) c.872-44T>G (n.872-44T>G) c.605-44T>G (n.605-44T>G) c.599-44T>G (n.599-44T>G) c.602-44T>G (n.602-44T>G) c.659-44T>G (n.659-44T>G) c.217-44T>G c.869-44T>G (n.869-44T>G) c.728-44T>G (n.728-44T>G) c.725-44T>G (n.725-44T>G) c.650-44T>G (n.650-44T>G) c.698-44T>G (n.698-44T>G) c.632-44T>G (n.632-44T>G) c.794-44T>G (n.794-44T>G) c.680-44T>G (n.680-44T>G) c.677-44T>G (n.677-44T>G) c.791-44T>G (n.791-44T>G) c.647-44T>G (n.647-44T>G) c.866-44T>G (n.866-44T>G) c.776-44T>G (n.776-44T>G) | gnomAD v4 |
22 | g.35761338A>T | CA1025414198 | RBFOX2 | c.782-44T>A (n.782-44T>A) c.662-44T>A (n.662-44T>A) c.*193-44T>A (n.*193-44T>A) c.*169-44T>A (n.*169-44T>A) c.*112-44T>A (n.*112-44T>A) c.872-44T>A (n.872-44T>A) c.605-44T>A (n.605-44T>A) c.599-44T>A (n.599-44T>A) c.602-44T>A (n.602-44T>A) c.659-44T>A (n.659-44T>A) c.217-44T>A c.869-44T>A (n.869-44T>A) c.728-44T>A (n.728-44T>A) c.725-44T>A (n.725-44T>A) c.650-44T>A (n.650-44T>A) c.698-44T>A (n.698-44T>A) c.632-44T>A (n.632-44T>A) c.794-44T>A (n.794-44T>A) c.680-44T>A (n.680-44T>A) c.677-44T>A (n.677-44T>A) c.791-44T>A (n.791-44T>A) c.647-44T>A (n.647-44T>A) c.866-44T>A (n.866-44T>A) c.776-44T>A (n.776-44T>A) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.35761338_35761339insCACTATACTTTCTTAGTGAGTAATCTCCTCATCACGGTGGTGGATTAAAAAGC | CA2571524598 | RBFOX2 | c.782-45_782-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.782-45_782-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.662-45_662-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.662-45_662-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.*193-45_*193-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.*193-45_*193-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.*169-45_*169-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.*169-45_*169-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.*112-45_*112-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.*112-45_*112-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.872-45_872-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.872-45_872-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.605-45_605-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.605-45_605-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.599-45_599-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.599-45_599-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.602-45_602-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.602-45_602-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.659-45_659-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.659-45_659-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.217-45_217-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG c.869-45_869-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.869-45_869-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.728-45_728-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.728-45_728-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.725-45_725-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.725-45_725-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.650-45_650-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.650-45_650-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.698-45_698-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.698-45_698-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.632-45_632-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.632-45_632-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.794-45_794-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.794-45_794-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.680-45_680-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.680-45_680-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.677-45_677-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.677-45_677-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.791-45_791-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.791-45_791-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.647-45_647-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.647-45_647-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.866-45_866-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.866-45_866-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) c.776-45_776-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG (n.776-45_776-44insGCTTTTTAATCCACCACCGTGATGAGGAGATTACTCACTAAGAAAGTATAGTG) | |
22 | g.35761340G>A | CA2656389530 | RBFOX2 | c.782-46C>T (n.782-46C>T) c.662-46C>T (n.662-46C>T) c.*193-46C>T (n.*193-46C>T) c.*169-46C>T (n.*169-46C>T) c.*112-46C>T (n.*112-46C>T) c.872-46C>T (n.872-46C>T) c.605-46C>T (n.605-46C>T) c.599-46C>T (n.599-46C>T) c.602-46C>T (n.602-46C>T) c.659-46C>T (n.659-46C>T) c.217-46C>T c.869-46C>T (n.869-46C>T) c.728-46C>T (n.728-46C>T) c.725-46C>T (n.725-46C>T) c.650-46C>T (n.650-46C>T) c.698-46C>T (n.698-46C>T) c.632-46C>T (n.632-46C>T) c.794-46C>T (n.794-46C>T) c.680-46C>T (n.680-46C>T) c.677-46C>T (n.677-46C>T) c.791-46C>T (n.791-46C>T) c.647-46C>T (n.647-46C>T) c.866-46C>T (n.866-46C>T) c.776-46C>T (n.776-46C>T) | gnomAD v4 |
22 | g.35761341G>A | CA10206841 | RBFOX2 | c.782-47C>T (n.782-47C>T) c.662-47C>T (n.662-47C>T) c.*193-47C>T (n.*193-47C>T) c.*169-47C>T (n.*169-47C>T) c.*112-47C>T (n.*112-47C>T) c.872-47C>T (n.872-47C>T) c.605-47C>T (n.605-47C>T) c.599-47C>T (n.599-47C>T) c.602-47C>T (n.602-47C>T) c.659-47C>T (n.659-47C>T) c.217-47C>T c.869-47C>T (n.869-47C>T) c.728-47C>T (n.728-47C>T) c.725-47C>T (n.725-47C>T) c.650-47C>T (n.650-47C>T) c.698-47C>T (n.698-47C>T) c.632-47C>T (n.632-47C>T) c.794-47C>T (n.794-47C>T) c.680-47C>T (n.680-47C>T) c.677-47C>T (n.677-47C>T) c.791-47C>T (n.791-47C>T) c.647-47C>T (n.647-47C>T) c.866-47C>T (n.866-47C>T) c.776-47C>T (n.776-47C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.35761341G>C | CA2656389531 | RBFOX2 | c.782-47C>G (n.782-47C>G) c.662-47C>G (n.662-47C>G) c.*193-47C>G (n.*193-47C>G) c.*169-47C>G (n.*169-47C>G) c.*112-47C>G (n.*112-47C>G) c.872-47C>G (n.872-47C>G) c.605-47C>G (n.605-47C>G) c.599-47C>G (n.599-47C>G) c.602-47C>G (n.602-47C>G) c.659-47C>G (n.659-47C>G) c.217-47C>G c.869-47C>G (n.869-47C>G) c.728-47C>G (n.728-47C>G) c.725-47C>G (n.725-47C>G) c.650-47C>G (n.650-47C>G) c.698-47C>G (n.698-47C>G) c.632-47C>G (n.632-47C>G) c.794-47C>G (n.794-47C>G) c.680-47C>G (n.680-47C>G) c.677-47C>G (n.677-47C>G) c.791-47C>G (n.791-47C>G) c.647-47C>G (n.647-47C>G) c.866-47C>G (n.866-47C>G) c.776-47C>G (n.776-47C>G) | gnomAD v4 |
22 | g.35761341G= | CA2403556562 | RBFOX2 | c.782-47C= (n.782-47C=) c.662-47C= (n.662-47C=) c.*193-47C= (n.*193-47C=) c.*169-47C= (n.*169-47C=) c.*112-47C= (n.*112-47C=) c.872-47C= (n.872-47C=) c.605-47C= (n.605-47C=) c.599-47C= (n.599-47C=) c.602-47C= (n.602-47C=) c.659-47C= (n.659-47C=) c.217-47C= c.869-47C= (n.869-47C=) c.728-47C= (n.728-47C=) c.725-47C= (n.725-47C=) c.650-47C= (n.650-47C=) c.698-47C= (n.698-47C=) c.632-47C= (n.632-47C=) c.794-47C= (n.794-47C=) c.680-47C= (n.680-47C=) c.677-47C= (n.677-47C=) c.791-47C= (n.791-47C=) c.647-47C= (n.647-47C=) c.866-47C= (n.866-47C=) c.776-47C= (n.776-47C=) | |
22 | g.35761342A>T | CA2577701037 | RBFOX2 | c.782-48T>A (n.782-48T>A) c.662-48T>A (n.662-48T>A) c.*193-48T>A (n.*193-48T>A) c.*169-48T>A (n.*169-48T>A) c.*112-48T>A (n.*112-48T>A) c.872-48T>A (n.872-48T>A) c.605-48T>A (n.605-48T>A) c.599-48T>A (n.599-48T>A) c.602-48T>A (n.602-48T>A) c.659-48T>A (n.659-48T>A) c.217-48T>A c.869-48T>A (n.869-48T>A) c.728-48T>A (n.728-48T>A) c.725-48T>A (n.725-48T>A) c.650-48T>A (n.650-48T>A) c.698-48T>A (n.698-48T>A) c.632-48T>A (n.632-48T>A) c.794-48T>A (n.794-48T>A) c.680-48T>A (n.680-48T>A) c.677-48T>A (n.677-48T>A) c.791-48T>A (n.791-48T>A) c.647-48T>A (n.647-48T>A) c.866-48T>A (n.866-48T>A) c.776-48T>A (n.776-48T>A) | |
22 | g.35761342_35761343insAAGTAATTCAGATTTTTTTGCCTTTTAATCT | CA2512193871 | RBFOX2 | c.782-49_782-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.782-49_782-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.662-49_662-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.662-49_662-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.*193-49_*193-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.*193-49_*193-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.*169-49_*169-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.*169-49_*169-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.*112-49_*112-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.*112-49_*112-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.872-49_872-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.872-49_872-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.605-49_605-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.605-49_605-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.599-49_599-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.599-49_599-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.602-49_602-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.602-49_602-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.659-49_659-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.659-49_659-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.217-49_217-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT c.869-49_869-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.869-49_869-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.728-49_728-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.728-49_728-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.725-49_725-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.725-49_725-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.650-49_650-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.650-49_650-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.698-49_698-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.698-49_698-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.632-49_632-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.632-49_632-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.794-49_794-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.794-49_794-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.680-49_680-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.680-49_680-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.677-49_677-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.677-49_677-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.791-49_791-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.791-49_791-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.647-49_647-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.647-49_647-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.866-49_866-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.866-49_866-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) c.776-49_776-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT (n.776-49_776-48insAGATTAAAAGGCAAAAAAATCTGAATTACTT) | |
22 | g.35761343G>T | CA2656389532 | RBFOX2 | c.782-49C>A (n.782-49C>A) c.662-49C>A (n.662-49C>A) c.*193-49C>A (n.*193-49C>A) c.*169-49C>A (n.*169-49C>A) c.*112-49C>A (n.*112-49C>A) c.872-49C>A (n.872-49C>A) c.605-49C>A (n.605-49C>A) c.599-49C>A (n.599-49C>A) c.602-49C>A (n.602-49C>A) c.659-49C>A (n.659-49C>A) c.217-49C>A c.869-49C>A (n.869-49C>A) c.728-49C>A (n.728-49C>A) c.725-49C>A (n.725-49C>A) c.650-49C>A (n.650-49C>A) c.698-49C>A (n.698-49C>A) c.632-49C>A (n.632-49C>A) c.794-49C>A (n.794-49C>A) c.680-49C>A (n.680-49C>A) c.677-49C>A (n.677-49C>A) c.791-49C>A (n.791-49C>A) c.647-49C>A (n.647-49C>A) c.866-49C>A (n.866-49C>A) c.776-49C>A (n.776-49C>A) | gnomAD v4 |
22 | g.35761344T>C | CA2656389533 | RBFOX2 | c.782-50A>G (n.782-50A>G) c.662-50A>G (n.662-50A>G) c.*193-50A>G (n.*193-50A>G) c.*169-50A>G (n.*169-50A>G) c.*112-50A>G (n.*112-50A>G) c.872-50A>G (n.872-50A>G) c.605-50A>G (n.605-50A>G) c.599-50A>G (n.599-50A>G) c.602-50A>G (n.602-50A>G) c.659-50A>G (n.659-50A>G) c.217-50A>G c.869-50A>G (n.869-50A>G) c.728-50A>G (n.728-50A>G) c.725-50A>G (n.725-50A>G) c.650-50A>G (n.650-50A>G) c.698-50A>G (n.698-50A>G) c.632-50A>G (n.632-50A>G) c.794-50A>G (n.794-50A>G) c.680-50A>G (n.680-50A>G) c.677-50A>G (n.677-50A>G) c.791-50A>G (n.791-50A>G) c.647-50A>G (n.647-50A>G) c.866-50A>G (n.866-50A>G) c.776-50A>G (n.776-50A>G) | gnomAD v4 |
22 | g.35761345C= | CA2403556563 | RBFOX2 | c.782-51G= (n.782-51G=) c.662-51G= (n.662-51G=) c.*193-51G= (n.*193-51G=) c.*169-51G= (n.*169-51G=) c.*112-51G= (n.*112-51G=) c.872-51G= (n.872-51G=) c.605-51G= (n.605-51G=) c.599-51G= (n.599-51G=) c.602-51G= (n.602-51G=) c.659-51G= (n.659-51G=) c.217-51G= c.869-51G= (n.869-51G=) c.728-51G= (n.728-51G=) c.725-51G= (n.725-51G=) c.650-51G= (n.650-51G=) c.698-51G= (n.698-51G=) c.632-51G= (n.632-51G=) c.794-51G= (n.794-51G=) c.680-51G= (n.680-51G=) c.677-51G= (n.677-51G=) c.791-51G= (n.791-51G=) c.647-51G= (n.647-51G=) c.866-51G= (n.866-51G=) c.776-51G= (n.776-51G=) | |
22 | g.35761345C>G | CA2656389534 | RBFOX2 | c.782-51G>C (n.782-51G>C) c.662-51G>C (n.662-51G>C) c.*193-51G>C (n.*193-51G>C) c.*169-51G>C (n.*169-51G>C) c.*112-51G>C (n.*112-51G>C) c.872-51G>C (n.872-51G>C) c.605-51G>C (n.605-51G>C) c.599-51G>C (n.599-51G>C) c.602-51G>C (n.602-51G>C) c.659-51G>C (n.659-51G>C) c.217-51G>C c.869-51G>C (n.869-51G>C) c.728-51G>C (n.728-51G>C) c.725-51G>C (n.725-51G>C) c.650-51G>C (n.650-51G>C) c.698-51G>C (n.698-51G>C) c.632-51G>C (n.632-51G>C) c.794-51G>C (n.794-51G>C) c.680-51G>C (n.680-51G>C) c.677-51G>C (n.677-51G>C) c.791-51G>C (n.791-51G>C) c.647-51G>C (n.647-51G>C) c.866-51G>C (n.866-51G>C) c.776-51G>C (n.776-51G>C) | gnomAD v4 |
22 | g.35761345C>T | CA752814832 | RBFOX2 | c.782-51G>A (n.782-51G>A) c.662-51G>A (n.662-51G>A) c.*193-51G>A (n.*193-51G>A) c.*169-51G>A (n.*169-51G>A) c.*112-51G>A (n.*112-51G>A) c.872-51G>A (n.872-51G>A) c.605-51G>A (n.605-51G>A) c.599-51G>A (n.599-51G>A) c.602-51G>A (n.602-51G>A) c.659-51G>A (n.659-51G>A) c.217-51G>A c.869-51G>A (n.869-51G>A) c.728-51G>A (n.728-51G>A) c.725-51G>A (n.725-51G>A) c.650-51G>A (n.650-51G>A) c.698-51G>A (n.698-51G>A) c.632-51G>A (n.632-51G>A) c.794-51G>A (n.794-51G>A) c.680-51G>A (n.680-51G>A) c.677-51G>A (n.677-51G>A) c.791-51G>A (n.791-51G>A) c.647-51G>A (n.647-51G>A) c.866-51G>A (n.866-51G>A) c.776-51G>A (n.776-51G>A) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.35761347_35761348delinsCA | CA2403556564 | RBFOX2 | c.782-54_782-53delinsTG (n.782-54_782-53delinsTG) c.662-54_662-53delinsTG (n.662-54_662-53delinsTG) c.*193-54_*193-53delinsTG (n.*193-54_*193-53delinsTG) c.*169-54_*169-53delinsTG (n.*169-54_*169-53delinsTG) c.*112-54_*112-53delinsTG (n.*112-54_*112-53delinsTG) c.872-54_872-53delinsTG (n.872-54_872-53delinsTG) c.605-54_605-53delinsTG (n.605-54_605-53delinsTG) c.599-54_599-53delinsTG (n.599-54_599-53delinsTG) c.602-54_602-53delinsTG (n.602-54_602-53delinsTG) c.659-54_659-53delinsTG (n.659-54_659-53delinsTG) c.217-54_217-53delinsTG c.869-54_869-53delinsTG (n.869-54_869-53delinsTG) c.728-54_728-53delinsTG (n.728-54_728-53delinsTG) c.725-54_725-53delinsTG (n.725-54_725-53delinsTG) c.650-54_650-53delinsTG (n.650-54_650-53delinsTG) c.698-54_698-53delinsTG (n.698-54_698-53delinsTG) c.632-54_632-53delinsTG (n.632-54_632-53delinsTG) c.794-54_794-53delinsTG (n.794-54_794-53delinsTG) c.680-54_680-53delinsTG (n.680-54_680-53delinsTG) c.677-54_677-53delinsTG (n.677-54_677-53delinsTG) c.791-54_791-53delinsTG (n.791-54_791-53delinsTG) c.647-54_647-53delinsTG (n.647-54_647-53delinsTG) c.866-54_866-53delinsTG (n.866-54_866-53delinsTG) c.776-54_776-53delinsTG (n.776-54_776-53delinsTG) | |
22 | g.35761348A>C | CA2656389535 | RBFOX2 | c.782-54T>G (n.782-54T>G) c.662-54T>G (n.662-54T>G) c.*193-54T>G (n.*193-54T>G) c.*169-54T>G (n.*169-54T>G) c.*112-54T>G (n.*112-54T>G) c.872-54T>G (n.872-54T>G) c.605-54T>G (n.605-54T>G) c.599-54T>G (n.599-54T>G) c.602-54T>G (n.602-54T>G) c.659-54T>G (n.659-54T>G) c.217-54T>G c.869-54T>G (n.869-54T>G) c.728-54T>G (n.728-54T>G) c.725-54T>G (n.725-54T>G) c.650-54T>G (n.650-54T>G) c.698-54T>G (n.698-54T>G) c.632-54T>G (n.632-54T>G) c.794-54T>G (n.794-54T>G) c.680-54T>G (n.680-54T>G) c.677-54T>G (n.677-54T>G) c.791-54T>G (n.791-54T>G) c.647-54T>G (n.647-54T>G) c.866-54T>G (n.866-54T>G) c.776-54T>G (n.776-54T>G) | gnomAD v4 |
22 | g.35761350del | CA2403556565 | RBFOX2 | c.782-54del (n.782-54del) c.662-54del (n.662-54del) c.*193-54del (n.*193-54del) c.*169-54del (n.*169-54del) c.*112-54del (n.*112-54del) c.872-54del (n.872-54del) c.605-54del (n.605-54del) c.599-54del (n.599-54del) c.602-54del (n.602-54del) c.659-54del (n.659-54del) c.217-54del c.869-54del (n.869-54del) c.728-54del (n.728-54del) c.725-54del (n.725-54del) c.650-54del (n.650-54del) c.698-54del (n.698-54del) c.632-54del (n.632-54del) c.794-54del (n.794-54del) c.680-54del (n.680-54del) c.677-54del (n.677-54del) c.791-54del (n.791-54del) c.647-54del (n.647-54del) c.866-54del (n.866-54del) c.776-54del (n.776-54del) | dbSNP |
22 | g.35761349A>C | CA2656389536 | RBFOX2 | c.782-55T>G (n.782-55T>G) c.662-55T>G (n.662-55T>G) c.*193-55T>G (n.*193-55T>G) c.*169-55T>G (n.*169-55T>G) c.*112-55T>G (n.*112-55T>G) c.872-55T>G (n.872-55T>G) c.605-55T>G (n.605-55T>G) c.599-55T>G (n.599-55T>G) c.602-55T>G (n.602-55T>G) c.659-55T>G (n.659-55T>G) c.217-55T>G c.869-55T>G (n.869-55T>G) c.728-55T>G (n.728-55T>G) c.725-55T>G (n.725-55T>G) c.650-55T>G (n.650-55T>G) c.698-55T>G (n.698-55T>G) c.632-55T>G (n.632-55T>G) c.794-55T>G (n.794-55T>G) c.680-55T>G (n.680-55T>G) c.677-55T>G (n.677-55T>G) c.791-55T>G (n.791-55T>G) c.647-55T>G (n.647-55T>G) c.866-55T>G (n.866-55T>G) c.776-55T>G (n.776-55T>G) | gnomAD v4 |
22 | g.35761349A>G | CA2656389538 | RBFOX2 | c.782-55T>C (n.782-55T>C) c.662-55T>C (n.662-55T>C) c.*193-55T>C (n.*193-55T>C) c.*169-55T>C (n.*169-55T>C) c.*112-55T>C (n.*112-55T>C) c.872-55T>C (n.872-55T>C) c.605-55T>C (n.605-55T>C) c.599-55T>C (n.599-55T>C) c.602-55T>C (n.602-55T>C) c.659-55T>C (n.659-55T>C) c.217-55T>C c.869-55T>C (n.869-55T>C) c.728-55T>C (n.728-55T>C) c.725-55T>C (n.725-55T>C) c.650-55T>C (n.650-55T>C) c.698-55T>C (n.698-55T>C) c.632-55T>C (n.632-55T>C) c.794-55T>C (n.794-55T>C) c.680-55T>C (n.680-55T>C) c.677-55T>C (n.677-55T>C) c.791-55T>C (n.791-55T>C) c.647-55T>C (n.647-55T>C) c.866-55T>C (n.866-55T>C) c.776-55T>C (n.776-55T>C) | gnomAD v4 |
22 | g.35761349A>T | CA2656389537 | RBFOX2 | c.782-55T>A (n.782-55T>A) c.662-55T>A (n.662-55T>A) c.*193-55T>A (n.*193-55T>A) c.*169-55T>A (n.*169-55T>A) c.*112-55T>A (n.*112-55T>A) c.872-55T>A (n.872-55T>A) c.605-55T>A (n.605-55T>A) c.599-55T>A (n.599-55T>A) c.602-55T>A (n.602-55T>A) c.659-55T>A (n.659-55T>A) c.217-55T>A c.869-55T>A (n.869-55T>A) c.728-55T>A (n.728-55T>A) c.725-55T>A (n.725-55T>A) c.650-55T>A (n.650-55T>A) c.698-55T>A (n.698-55T>A) c.632-55T>A (n.632-55T>A) c.794-55T>A (n.794-55T>A) c.680-55T>A (n.680-55T>A) c.677-55T>A (n.677-55T>A) c.791-55T>A (n.791-55T>A) c.647-55T>A (n.647-55T>A) c.866-55T>A (n.866-55T>A) c.776-55T>A (n.776-55T>A) | gnomAD v4 |
22 | g.35761350A>G | CA2818866102 | RBFOX2 | c.782-56T>C (n.782-56T>C) c.662-56T>C (n.662-56T>C) c.*193-56T>C (n.*193-56T>C) c.*169-56T>C (n.*169-56T>C) c.*112-56T>C (n.*112-56T>C) c.872-56T>C (n.872-56T>C) c.605-56T>C (n.605-56T>C) c.599-56T>C (n.599-56T>C) c.602-56T>C (n.602-56T>C) c.659-56T>C (n.659-56T>C) c.217-56T>C c.869-56T>C (n.869-56T>C) c.728-56T>C (n.728-56T>C) c.725-56T>C (n.725-56T>C) c.650-56T>C (n.650-56T>C) c.698-56T>C (n.698-56T>C) c.632-56T>C (n.632-56T>C) c.794-56T>C (n.794-56T>C) c.680-56T>C (n.680-56T>C) c.677-56T>C (n.677-56T>C) c.791-56T>C (n.791-56T>C) c.647-56T>C (n.647-56T>C) c.866-56T>C (n.866-56T>C) c.776-56T>C (n.776-56T>C) | |
22 | g.35761351T>A | CA2403556566 | RBFOX2 | c.782-57A>T (n.782-57A>T) c.662-57A>T (n.662-57A>T) c.*193-57A>T (n.*193-57A>T) c.*169-57A>T (n.*169-57A>T) c.*112-57A>T (n.*112-57A>T) c.872-57A>T (n.872-57A>T) c.605-57A>T (n.605-57A>T) c.599-57A>T (n.599-57A>T) c.602-57A>T (n.602-57A>T) c.659-57A>T (n.659-57A>T) c.217-57A>T c.869-57A>T (n.869-57A>T) c.728-57A>T (n.728-57A>T) c.725-57A>T (n.725-57A>T) c.650-57A>T (n.650-57A>T) c.698-57A>T (n.698-57A>T) c.632-57A>T (n.632-57A>T) c.794-57A>T (n.794-57A>T) c.680-57A>T (n.680-57A>T) c.677-57A>T (n.677-57A>T) c.791-57A>T (n.791-57A>T) c.647-57A>T (n.647-57A>T) c.866-57A>T (n.866-57A>T) c.776-57A>T (n.776-57A>T) | dbSNP |
22 | g.35761351T>C | CA2656389539 | RBFOX2 | c.782-57A>G (n.782-57A>G) c.662-57A>G (n.662-57A>G) c.*193-57A>G (n.*193-57A>G) c.*169-57A>G (n.*169-57A>G) c.*112-57A>G (n.*112-57A>G) c.872-57A>G (n.872-57A>G) c.605-57A>G (n.605-57A>G) c.599-57A>G (n.599-57A>G) c.602-57A>G (n.602-57A>G) c.659-57A>G (n.659-57A>G) c.217-57A>G c.869-57A>G (n.869-57A>G) c.728-57A>G (n.728-57A>G) c.725-57A>G (n.725-57A>G) c.650-57A>G (n.650-57A>G) c.698-57A>G (n.698-57A>G) c.632-57A>G (n.632-57A>G) c.794-57A>G (n.794-57A>G) c.680-57A>G (n.680-57A>G) c.677-57A>G (n.677-57A>G) c.791-57A>G (n.791-57A>G) c.647-57A>G (n.647-57A>G) c.866-57A>G (n.866-57A>G) c.776-57A>G (n.776-57A>G) | gnomAD v4 |
22 | g.35761351T= | CA2403556567 | RBFOX2 | c.782-57A= (n.782-57A=) c.662-57A= (n.662-57A=) c.*193-57A= (n.*193-57A=) c.*169-57A= (n.*169-57A=) c.*112-57A= (n.*112-57A=) c.872-57A= (n.872-57A=) c.605-57A= (n.605-57A=) c.599-57A= (n.599-57A=) c.602-57A= (n.602-57A=) c.659-57A= (n.659-57A=) c.217-57A= c.869-57A= (n.869-57A=) c.728-57A= (n.728-57A=) c.725-57A= (n.725-57A=) c.650-57A= (n.650-57A=) c.698-57A= (n.698-57A=) c.632-57A= (n.632-57A=) c.794-57A= (n.794-57A=) c.680-57A= (n.680-57A=) c.677-57A= (n.677-57A=) c.791-57A= (n.791-57A=) c.647-57A= (n.647-57A=) c.866-57A= (n.866-57A=) c.776-57A= (n.776-57A=) | |
22 | g.35761352T>C | CA2656389541 | RBFOX2 | c.782-58A>G (n.782-58A>G) c.662-58A>G (n.662-58A>G) c.*193-58A>G (n.*193-58A>G) c.*169-58A>G (n.*169-58A>G) c.*112-58A>G (n.*112-58A>G) c.872-58A>G (n.872-58A>G) c.605-58A>G (n.605-58A>G) c.599-58A>G (n.599-58A>G) c.602-58A>G (n.602-58A>G) c.659-58A>G (n.659-58A>G) c.217-58A>G c.869-58A>G (n.869-58A>G) c.728-58A>G (n.728-58A>G) c.725-58A>G (n.725-58A>G) c.650-58A>G (n.650-58A>G) c.698-58A>G (n.698-58A>G) c.632-58A>G (n.632-58A>G) c.794-58A>G (n.794-58A>G) c.680-58A>G (n.680-58A>G) c.677-58A>G (n.677-58A>G) c.791-58A>G (n.791-58A>G) c.647-58A>G (n.647-58A>G) c.866-58A>G (n.866-58A>G) c.776-58A>G (n.776-58A>G) | gnomAD v4 |
22 | g.35761352T>G | CA2656389540 | RBFOX2 | c.782-58A>C (n.782-58A>C) c.662-58A>C (n.662-58A>C) c.*193-58A>C (n.*193-58A>C) c.*169-58A>C (n.*169-58A>C) c.*112-58A>C (n.*112-58A>C) c.872-58A>C (n.872-58A>C) c.605-58A>C (n.605-58A>C) c.599-58A>C (n.599-58A>C) c.602-58A>C (n.602-58A>C) c.659-58A>C (n.659-58A>C) c.217-58A>C c.869-58A>C (n.869-58A>C) c.728-58A>C (n.728-58A>C) c.725-58A>C (n.725-58A>C) c.650-58A>C (n.650-58A>C) c.698-58A>C (n.698-58A>C) c.632-58A>C (n.632-58A>C) c.794-58A>C (n.794-58A>C) c.680-58A>C (n.680-58A>C) c.677-58A>C (n.677-58A>C) c.791-58A>C (n.791-58A>C) c.647-58A>C (n.647-58A>C) c.866-58A>C (n.866-58A>C) c.776-58A>C (n.776-58A>C) | gnomAD v4 |
22 | g.35761352T= | CA2403556568 | RBFOX2 | c.782-58A= (n.782-58A=) c.662-58A= (n.662-58A=) c.*193-58A= (n.*193-58A=) c.*169-58A= (n.*169-58A=) c.*112-58A= (n.*112-58A=) c.872-58A= (n.872-58A=) c.605-58A= (n.605-58A=) c.599-58A= (n.599-58A=) c.602-58A= (n.602-58A=) c.659-58A= (n.659-58A=) c.217-58A= c.869-58A= (n.869-58A=) c.728-58A= (n.728-58A=) c.725-58A= (n.725-58A=) c.650-58A= (n.650-58A=) c.698-58A= (n.698-58A=) c.632-58A= (n.632-58A=) c.794-58A= (n.794-58A=) c.680-58A= (n.680-58A=) c.677-58A= (n.677-58A=) c.791-58A= (n.791-58A=) c.647-58A= (n.647-58A=) c.866-58A= (n.866-58A=) c.776-58A= (n.776-58A=) |