Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108210349G>A | CA388619297 | LIG4 | c.719C>T (p.Thr240Ile) c.920C>T (p.Thr307Ile) c.956C>T (p.Thr319Ile) c.932C>T (p.Thr311Ile) | |
13 | g.108210349G>C | CA388619299 | LIG4 | c.719C>G (p.Thr240Ser) c.920C>G (p.Thr307Ser) c.956C>G (p.Thr319Ser) c.932C>G (p.Thr311Ser) | |
13 | g.108210349G>T | CA388619298 | LIG4 | c.719C>A (p.Thr240Asn) c.920C>A (p.Thr307Asn) c.956C>A (p.Thr319Asn) c.932C>A (p.Thr311Asn) | |
13 | g.108210350T>A | CA388619300 | LIG4 | c.718A>T (p.Thr240Ser) c.919A>T (p.Thr307Ser) c.955A>T (p.Thr319Ser) c.931A>T (p.Thr311Ser) | |
13 | g.108210350T>C | CA7043776 | LIG4 | c.718A>G (p.Thr240Ala) c.919A>G (p.Thr307Ala) c.955A>G (p.Thr319Ala) c.931A>G (p.Thr311Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210350T>G | CA7043777 | LIG4 | c.718A>C (p.Thr240Pro) c.919A>C (p.Thr307Pro) c.955A>C (p.Thr319Pro) c.931A>C (p.Thr311Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108210350T= | CA2117794598 | LIG4 | c.718A= (p.Thr240=) c.919A= (p.Thr307=) c.955A= (p.Thr319=) c.931A= (p.Thr311=) | |
13 | g.108210350_108210353delinsTAGG | CA2117794599 | LIG4 | c.715_718delinsCCTA (p.Pro239=) c.916_919delinsCCTA (p.Pro306=) c.952_955delinsCCTA (p.Pro318=) c.928_931delinsCCTA (p.Pro310=) | |
13 | g.108210351A>C | CA484975657 | LIG4 | c.717T>G (p.Pro239=) c.918T>G (p.Pro306=) c.954T>G (p.Pro318=) c.930T>G (p.Pro310=) | |
13 | g.108210351A>G | CA484975658 | LIG4 | c.717T>C (p.Pro239=) c.918T>C (p.Pro306=) c.954T>C (p.Pro318=) c.930T>C (p.Pro310=) | |
13 | g.108210351A>T | CA484975659 | LIG4 | c.717T>A (p.Pro239=) c.918T>A (p.Pro306=) c.954T>A (p.Pro318=) c.930T>A (p.Pro310=) | |
13 | g.108210353_108210355del | CA612360454 | LIG4 | c.715_717del (p.Pro239del) c.916_918del (p.Pro306del) c.952_954del (p.Pro318del) c.928_930del (p.Pro310del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210352G>A | CA388619301 | LIG4 | c.716C>T (p.Pro239Leu) c.917C>T (p.Pro306Leu) c.953C>T (p.Pro318Leu) c.929C>T (p.Pro310Leu) | gnomAD v4 |
13 | g.108210352G>C | CA388619303 | LIG4 | c.716C>G (p.Pro239Arg) c.917C>G (p.Pro306Arg) c.953C>G (p.Pro318Arg) c.929C>G (p.Pro310Arg) | |
13 | g.108210352G>T | CA388619302 | LIG4 | c.716C>A (p.Pro239His) c.917C>A (p.Pro306His) c.953C>A (p.Pro318His) c.929C>A (p.Pro310His) | |
13 | g.108210353G>A | CA388619304 | LIG4 | c.715C>T (p.Pro239Ser) c.916C>T (p.Pro306Ser) c.952C>T (p.Pro318Ser) c.928C>T (p.Pro310Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210353G>C | CA388619305 | LIG4 | c.715C>G (p.Pro239Ala) c.916C>G (p.Pro306Ala) c.952C>G (p.Pro318Ala) c.928C>G (p.Pro310Ala) | gnomAD v4 |
13 | g.108210353G= | CA2117794600 | LIG4 | c.715C= (p.Pro239=) c.916C= (p.Pro306=) c.952C= (p.Pro318=) c.928C= (p.Pro310=) | |
13 | g.108210353G>T | CA388619306 | LIG4 | c.715C>A (p.Pro239Thr) c.916C>A (p.Pro306Thr) c.952C>A (p.Pro318Thr) c.928C>A (p.Pro310Thr) | |
13 | g.108210354A= | CA2117794601 | LIG4 | c.714T= (p.Ser238=) c.915T= (p.Ser305=) c.951T= (p.Ser317=) c.927T= (p.Ser309=) | |
13 | g.108210354A>C | CA484975665 | LIG4 | c.714T>G (p.Ser238=) c.915T>G (p.Ser305=) c.951T>G (p.Ser317=) c.927T>G (p.Ser309=) | |
13 | g.108210354A>G | CA7043778 | LIG4 | c.714T>C (p.Ser238=) c.915T>C (p.Ser305=) c.951T>C (p.Ser317=) c.927T>C (p.Ser309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210354A>T | CA484975666 | LIG4 | c.714T>A (p.Ser238=) c.915T>A (p.Ser305=) c.951T>A (p.Ser317=) c.927T>A (p.Ser309=) | |
13 | g.108210355G>A | CA388619307 | LIG4 | c.713C>T (p.Ser238Phe) c.914C>T (p.Ser305Phe) c.950C>T (p.Ser317Phe) c.926C>T (p.Ser309Phe) | |
13 | g.108210355G>C | CA388619308 | LIG4 | c.713C>G (p.Ser238Cys) c.914C>G (p.Ser305Cys) c.950C>G (p.Ser317Cys) c.926C>G (p.Ser309Cys) | |
13 | g.108210355G>T | CA388619309 | LIG4 | c.713C>A (p.Ser238Tyr) c.914C>A (p.Ser305Tyr) c.950C>A (p.Ser317Tyr) c.926C>A (p.Ser309Tyr) | |
13 | g.108210356A>C | CA388619310 | LIG4 | c.712T>G (p.Ser238Ala) c.913T>G (p.Ser305Ala) c.949T>G (p.Ser317Ala) c.925T>G (p.Ser309Ala) | |
13 | g.108210356A>G | CA388619312 | LIG4 | c.712T>C (p.Ser238Pro) c.913T>C (p.Ser305Pro) c.949T>C (p.Ser317Pro) c.925T>C (p.Ser309Pro) | |
13 | g.108210356A>T | CA388619311 | LIG4 | c.712T>A (p.Ser238Thr) c.913T>A (p.Ser305Thr) c.949T>A (p.Ser317Thr) c.925T>A (p.Ser309Thr) | |
13 | g.108210357A= | CA2117794602 | LIG4 | c.711T= (p.Ala237=) c.912T= (p.Ala304=) c.948T= (p.Ala316=) c.924T= (p.Ala308=) | |
13 | g.108210357A>C | CA7043779 | LIG4 | c.711T>G (p.Ala237=) c.912T>G (p.Ala304=) c.948T>G (p.Ala316=) c.924T>G (p.Ala308=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108210357A>G | CA484975675 | LIG4 | c.711T>C (p.Ala237=) c.912T>C (p.Ala304=) c.948T>C (p.Ala316=) c.924T>C (p.Ala308=) | |
13 | g.108210357A>T | CA484975676 | LIG4 | c.711T>A (p.Ala237=) c.912T>A (p.Ala304=) c.948T>A (p.Ala316=) c.924T>A (p.Ala308=) | |
13 | g.108210358G>A | CA7043780 | LIG4 | c.710C>T (p.Ala237Val) c.911C>T (p.Ala304Val) c.947C>T (p.Ala316Val) c.923C>T (p.Ala308Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108210358G>C | CA388619313 | LIG4 | c.710C>G (p.Ala237Gly) c.911C>G (p.Ala304Gly) c.947C>G (p.Ala316Gly) c.923C>G (p.Ala308Gly) | |
13 | g.108210358G= | CA2117794603 | LIG4 | c.710C= (p.Ala237=) c.911C= (p.Ala304=) c.947C= (p.Ala316=) c.923C= (p.Ala308=) | |
13 | g.108210358G>T | CA388619314 | LIG4 | c.710C>A (p.Ala237Asp) c.911C>A (p.Ala304Asp) c.947C>A (p.Ala316Asp) c.923C>A (p.Ala308Asp) | |
13 | g.108210359C>A | CA388619317 | LIG4 | c.709G>T (p.Ala237Ser) c.910G>T (p.Ala304Ser) c.946G>T (p.Ala316Ser) c.922G>T (p.Ala308Ser) | dbSNP |
13 | g.108210359C= | CA2117794604 | LIG4 | c.709G= (p.Ala237=) c.910G= (p.Ala304=) c.946G= (p.Ala316=) c.922G= (p.Ala308=) | |
13 | g.108210359C>G | CA388619315 | LIG4 | c.709G>C (p.Ala237Pro) c.910G>C (p.Ala304Pro) c.946G>C (p.Ala316Pro) c.922G>C (p.Ala308Pro) | gnomAD v4 |
13 | g.108210359C>T | CA388619316 | LIG4 | c.709G>A (p.Ala237Thr) c.910G>A (p.Ala304Thr) c.946G>A (p.Ala316Thr) c.922G>A (p.Ala308Thr) | |
13 | g.108210360A>C | CA484975681 | LIG4 | c.708T>G (p.Gly236=) c.909T>G (p.Gly303=) c.945T>G (p.Gly315=) c.921T>G (p.Gly307=) | gnomAD v4 |
13 | g.108210360A>G | CA484975682 | LIG4 | c.708T>C (p.Gly236=) c.909T>C (p.Gly303=) c.945T>C (p.Gly315=) c.921T>C (p.Gly307=) | gnomAD v4 |
13 | g.108210360A>T | CA484975683 | LIG4 | c.708T>A (p.Gly236=) c.909T>A (p.Gly303=) c.945T>A (p.Gly315=) c.921T>A (p.Gly307=) | |
13 | g.108210361C>A | CA388619318 | LIG4 | c.707G>T (p.Gly236Val) c.908G>T (p.Gly303Val) c.944G>T (p.Gly315Val) c.920G>T (p.Gly307Val) | |
13 | g.108210361C>G | CA388619319 | LIG4 | c.707G>C (p.Gly236Ala) c.908G>C (p.Gly303Ala) c.944G>C (p.Gly315Ala) c.920G>C (p.Gly307Ala) | |
13 | g.108210361C>T | CA388619320 | LIG4 | c.707G>A (p.Gly236Asp) c.908G>A (p.Gly303Asp) c.944G>A (p.Gly315Asp) c.920G>A (p.Gly307Asp) | |
13 | g.108210362C>A | CA388619321 | LIG4 | c.706G>T (p.Gly236Cys) c.907G>T (p.Gly303Cys) c.943G>T (p.Gly315Cys) c.919G>T (p.Gly307Cys) | |
13 | g.108210362C= | CA2117794606 | LIG4 | c.706G= (p.Gly236=) c.907G= (p.Gly303=) c.943G= (p.Gly315=) c.919G= (p.Gly307=) | |
13 | g.108210362C>G | CA388619322 | LIG4 | c.706G>C (p.Gly236Arg) c.907G>C (p.Gly303Arg) c.943G>C (p.Gly315Arg) c.919G>C (p.Gly307Arg) | ClinVar dbSNP |
13 | g.108210362C>T | CA388619323 | LIG4 | c.706G>A (p.Gly236Ser) c.907G>A (p.Gly303Ser) c.943G>A (p.Gly315Ser) c.919G>A (p.Gly307Ser) | |
13 | g.108210362_108210363delinsCA | CA2117794605 | LIG4 | c.705_706delinsTG (p.Phe235=) c.906_907delinsTG (p.Phe302=) c.942_943delinsTG (p.Phe314=) c.918_919delinsTG (p.Phe306=) | |
13 | g.108210363A>C | CA388619324 | LIG4 | c.705T>G (p.Phe235Leu) c.906T>G (p.Phe302Leu) c.942T>G (p.Phe314Leu) c.918T>G (p.Phe306Leu) | gnomAD v4 |
13 | g.108210363A>G | CA484975688 | LIG4 | c.705T>C (p.Phe235=) c.906T>C (p.Phe302=) c.942T>C (p.Phe314=) c.918T>C (p.Phe306=) | ClinVar gnomAD v4 |
13 | g.108210363A>T | CA388619325 | LIG4 | c.705T>A (p.Phe235Leu) c.906T>A (p.Phe302Leu) c.942T>A (p.Phe314Leu) c.918T>A (p.Phe306Leu) | |
13 | g.108210365del | CA7043781 | LIG4 | c.705del (p.Phe235LeufsTer?) c.906del (p.Phe302LeufsTer?) c.942del (p.Phe314LeufsTer?) c.918del (p.Phe306LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108210364A>C | CA388619326 | LIG4 | c.704T>G (p.Phe235Cys) c.905T>G (p.Phe302Cys) c.941T>G (p.Phe314Cys) c.917T>G (p.Phe306Cys) | |
13 | g.108210364A>G | CA388619327 | LIG4 | c.704T>C (p.Phe235Ser) c.905T>C (p.Phe302Ser) c.941T>C (p.Phe314Ser) c.917T>C (p.Phe306Ser) | |
13 | g.108210364A>T | CA388619328 | LIG4 | c.704T>A (p.Phe235Tyr) c.905T>A (p.Phe302Tyr) c.941T>A (p.Phe314Tyr) c.917T>A (p.Phe306Tyr) | |
13 | g.108210365A>C | CA388619331 | LIG4 | c.703T>G (p.Phe235Val) c.904T>G (p.Phe302Val) c.940T>G (p.Phe314Val) c.916T>G (p.Phe306Val) | |
13 | g.108210365A>G | CA388619329 | LIG4 | c.703T>C (p.Phe235Leu) c.904T>C (p.Phe302Leu) c.940T>C (p.Phe314Leu) c.916T>C (p.Phe306Leu) | |
13 | g.108210365A>T | CA388619330 | LIG4 | c.703T>A (p.Phe235Ile) c.904T>A (p.Phe302Ile) c.940T>A (p.Phe314Ile) c.916T>A (p.Phe306Ile) | |
13 | g.108210366C>A | CA388619332 | LIG4 | c.702G>T (p.Gln234His) c.903G>T (p.Gln301His) c.939G>T (p.Gln313His) c.915G>T (p.Gln305His) | |
13 | g.108210366C>G | CA388619334 | LIG4 | c.702G>C (p.Gln234His) c.903G>C (p.Gln301His) c.939G>C (p.Gln313His) c.915G>C (p.Gln305His) | |
13 | g.108210366C>T | CA484975697 | LIG4 | c.702G>A (p.Gln234=) c.903G>A (p.Gln301=) c.939G>A (p.Gln313=) c.915G>A (p.Gln305=) | |
13 | g.108210367T>A | CA388619336 | LIG4 | c.701A>T (p.Gln234Leu) c.902A>T (p.Gln301Leu) c.938A>T (p.Gln313Leu) c.914A>T (p.Gln305Leu) | |
13 | g.108210367T>C | CA7043782 | LIG4 | c.701A>G (p.Gln234Arg) c.902A>G (p.Gln301Arg) c.938A>G (p.Gln313Arg) c.914A>G (p.Gln305Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108210367T>G | CA388619340 | LIG4 | c.701A>C (p.Gln234Pro) c.902A>C (p.Gln301Pro) c.938A>C (p.Gln313Pro) c.914A>C (p.Gln305Pro) | |
13 | g.108210367T= | CA2117794607 | LIG4 | c.701A= (p.Gln234=) c.902A= (p.Gln301=) c.938A= (p.Gln313=) c.914A= (p.Gln305=) | |
13 | g.108210368G>A | CA256182147 | LIG4 | c.700C>T (p.Gln234Ter) c.901C>T (p.Gln301Ter) c.937C>T (p.Gln313Ter) c.913C>T (p.Gln305Ter) | dbSNP |
13 | g.108210368G>C | CA388619348 | LIG4 | c.700C>G (p.Gln234Glu) c.901C>G (p.Gln301Glu) c.937C>G (p.Gln313Glu) c.913C>G (p.Gln305Glu) | gnomAD v4 |
13 | g.108210368G= | CA2117794608 | LIG4 | c.700C= (p.Gln234=) c.901C= (p.Gln301=) c.937C= (p.Gln313=) c.913C= (p.Gln305=) | |
13 | g.108210368G>T | CA388619350 | LIG4 | c.700C>A (p.Gln234Lys) c.901C>A (p.Gln301Lys) c.937C>A (p.Gln313Lys) c.913C>A (p.Gln305Lys) | gnomAD v4 |
13 | g.108210369A>C | CA388619354 | LIG4 | c.699T>G (p.Asp233Glu) c.900T>G (p.Asp300Glu) c.936T>G (p.Asp312Glu) c.912T>G (p.Asp304Glu) | |
13 | g.108210369A>G | CA484975707 | LIG4 | c.699T>C (p.Asp233=) c.900T>C (p.Asp300=) c.936T>C (p.Asp312=) c.912T>C (p.Asp304=) | |
13 | g.108210369A>T | CA388619355 | LIG4 | c.699T>A (p.Asp233Glu) c.900T>A (p.Asp300Glu) c.936T>A (p.Asp312Glu) c.912T>A (p.Asp304Glu) | |
13 | g.108210370T>A | CA388619356 | LIG4 | c.698A>T (p.Asp233Val) c.899A>T (p.Asp300Val) c.935A>T (p.Asp312Val) c.911A>T (p.Asp304Val) | |
13 | g.108210370T>C | CA388619357 | LIG4 | c.698A>G (p.Asp233Gly) c.899A>G (p.Asp300Gly) c.935A>G (p.Asp312Gly) c.911A>G (p.Asp304Gly) | gnomAD v4 |
13 | g.108210370T>G | CA388619359 | LIG4 | c.698A>C (p.Asp233Ala) c.899A>C (p.Asp300Ala) c.935A>C (p.Asp312Ala) c.911A>C (p.Asp304Ala) | |
13 | g.108210371C>A | CA388619363 | LIG4 | c.697G>T (p.Asp233Tyr) c.898G>T (p.Asp300Tyr) c.934G>T (p.Asp312Tyr) c.910G>T (p.Asp304Tyr) | |
13 | g.108210371C= | CA2117794609 | LIG4 | c.697G= (p.Asp233=) c.898G= (p.Asp300=) c.934G= (p.Asp312=) c.910G= (p.Asp304=) | |
13 | g.108210371C>G | CA388619361 | LIG4 | c.697G>C (p.Asp233His) c.898G>C (p.Asp300His) c.934G>C (p.Asp312His) c.910G>C (p.Asp304His) | |
13 | g.108210371C>T | CA7043783 | LIG4 | c.697G>A (p.Asp233Asn) c.898G>A (p.Asp300Asn) c.934G>A (p.Asp312Asn) c.910G>A (p.Asp304Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210372A>C | CA484975950 | LIG4 | c.696T>G (p.Thr232=) c.897T>G (p.Thr299=) c.933T>G (p.Thr311=) c.909T>G (p.Thr303=) | ClinVar dbSNP gnomAD v4 |
13 | g.108210372A>G | CA484975953 | LIG4 | c.696T>C (p.Thr232=) c.897T>C (p.Thr299=) c.933T>C (p.Thr311=) c.909T>C (p.Thr303=) | |
13 | g.108210372A>T | CA484975957 | LIG4 | c.696T>A (p.Thr232=) c.897T>A (p.Thr299=) c.933T>A (p.Thr311=) c.909T>A (p.Thr303=) | gnomAD v4 |
13 | g.108210373G>A | CA388619364 | LIG4 | c.695C>T (p.Thr232Ile) c.896C>T (p.Thr299Ile) c.932C>T (p.Thr311Ile) c.908C>T (p.Thr303Ile) | |
13 | g.108210373G>C | CA388619365 | LIG4 | c.695C>G (p.Thr232Ser) c.896C>G (p.Thr299Ser) c.932C>G (p.Thr311Ser) c.908C>G (p.Thr303Ser) | |
13 | g.108210373G>T | CA388619367 | LIG4 | c.695C>A (p.Thr232Asn) c.896C>A (p.Thr299Asn) c.932C>A (p.Thr311Asn) c.908C>A (p.Thr303Asn) | |
13 | g.108210374T>A | CA388619369 | LIG4 | c.694A>T (p.Thr232Ser) c.895A>T (p.Thr299Ser) c.931A>T (p.Thr311Ser) c.907A>T (p.Thr303Ser) | |
13 | g.108210374T>C | CA388619371 | LIG4 | c.694A>G (p.Thr232Ala) c.895A>G (p.Thr299Ala) c.931A>G (p.Thr311Ala) c.907A>G (p.Thr303Ala) | ClinVar |
13 | g.108210374T>G | CA388619373 | LIG4 | c.694A>C (p.Thr232Pro) c.895A>C (p.Thr299Pro) c.931A>C (p.Thr311Pro) c.907A>C (p.Thr303Pro) | |
13 | g.108210375G>A | CA484975961 | LIG4 | c.693C>T (p.Tyr231=) c.894C>T (p.Tyr298=) c.930C>T (p.Tyr310=) c.906C>T (p.Tyr302=) | ClinVar gnomAD v4 |
13 | g.108210375G>C | CA388619374 | LIG4 | c.693C>G (p.Tyr231Ter) c.894C>G (p.Tyr298Ter) c.930C>G (p.Tyr310Ter) c.906C>G (p.Tyr302Ter) | |
13 | g.108210375G>T | CA388619375 | LIG4 | c.693C>A (p.Tyr231Ter) c.894C>A (p.Tyr298Ter) c.930C>A (p.Tyr310Ter) c.906C>A (p.Tyr302Ter) | |
13 | g.108210376T>A | CA388619380 | LIG4 | c.692A>T (p.Tyr231Phe) c.893A>T (p.Tyr298Phe) c.929A>T (p.Tyr310Phe) c.905A>T (p.Tyr302Phe) | |
13 | g.108210376T>C | CA388619381 | LIG4 | c.692A>G (p.Tyr231Cys) c.893A>G (p.Tyr298Cys) c.929A>G (p.Tyr310Cys) c.905A>G (p.Tyr302Cys) | |
13 | g.108210376T>G | CA388619383 | LIG4 | c.692A>C (p.Tyr231Ser) c.893A>C (p.Tyr298Ser) c.929A>C (p.Tyr310Ser) c.905A>C (p.Tyr302Ser) | |
13 | g.108210377A= | CA2117794610 | LIG4 | c.691T= (p.Tyr231=) c.892T= (p.Tyr298=) c.928T= (p.Tyr310=) c.904T= (p.Tyr302=) | |
13 | g.108210377A>C | CA388619384 | LIG4 | c.691T>G (p.Tyr231Asp) c.892T>G (p.Tyr298Asp) c.928T>G (p.Tyr310Asp) c.904T>G (p.Tyr302Asp) | |
13 | g.108210377A>G | CA388619387 | LIG4 | c.691T>C (p.Tyr231His) c.892T>C (p.Tyr298His) c.928T>C (p.Tyr310His) c.904T>C (p.Tyr302His) | ClinVar dbSNP gnomAD v4 |
13 | g.108210377A>T | CA388619386 | LIG4 | c.691T>A (p.Tyr231Asn) c.892T>A (p.Tyr298Asn) c.928T>A (p.Tyr310Asn) c.904T>A (p.Tyr302Asn) | |
13 | g.108210378G>A | CA484975975 | LIG4 | c.690C>T (p.Asn230=) c.891C>T (p.Asn297=) c.927C>T (p.Asn309=) c.903C>T (p.Asn301=) | dbSNP |
13 | g.108210378G>C | CA388619388 | LIG4 | c.690C>G (p.Asn230Lys) c.891C>G (p.Asn297Lys) c.927C>G (p.Asn309Lys) c.903C>G (p.Asn301Lys) | gnomAD v4 |
13 | g.108210378G= | CA2117794611 | LIG4 | c.690C= (p.Asn230=) c.891C= (p.Asn297=) c.927C= (p.Asn309=) c.903C= (p.Asn301=) | |
13 | g.108210378G>T | CA388619389 | LIG4 | c.690C>A (p.Asn230Lys) c.891C>A (p.Asn297Lys) c.927C>A (p.Asn309Lys) c.903C>A (p.Asn301Lys) | |
13 | g.108210379T>A | CA388619390 | LIG4 | c.689A>T (p.Asn230Ile) c.890A>T (p.Asn297Ile) c.926A>T (p.Asn309Ile) c.902A>T (p.Asn301Ile) | |
13 | g.108210379T>C | CA388619392 | LIG4 | c.689A>G (p.Asn230Ser) c.890A>G (p.Asn297Ser) c.926A>G (p.Asn309Ser) c.902A>G (p.Asn301Ser) | gnomAD v4 |
13 | g.108210379T>G | CA388619394 | LIG4 | c.689A>C (p.Asn230Thr) c.890A>C (p.Asn297Thr) c.926A>C (p.Asn309Thr) c.902A>C (p.Asn301Thr) | |
13 | g.108210380T>A | CA388619395 | LIG4 | c.688A>T (p.Asn230Tyr) c.889A>T (p.Asn297Tyr) c.925A>T (p.Asn309Tyr) c.901A>T (p.Asn301Tyr) | |
13 | g.108210380T>C | CA388619397 | LIG4 | c.688A>G (p.Asn230Asp) c.889A>G (p.Asn297Asp) c.925A>G (p.Asn309Asp) c.901A>G (p.Asn301Asp) | ClinVar gnomAD v4 |
13 | g.108210380T>G | CA388619399 | LIG4 | c.688A>C (p.Asn230His) c.889A>C (p.Asn297His) c.925A>C (p.Asn309His) c.901A>C (p.Asn301His) | |
13 | g.108210381A>C | CA388619401 | LIG4 | c.687T>G (p.Tyr229Ter) c.888T>G (p.Tyr296Ter) c.924T>G (p.Tyr308Ter) c.900T>G (p.Tyr300Ter) | |
13 | g.108210381A>G | CA484975980 | LIG4 | c.687T>C (p.Tyr229=) c.888T>C (p.Tyr296=) c.924T>C (p.Tyr308=) c.900T>C (p.Tyr300=) | gnomAD v4 |
13 | g.108210381A>T | CA388619402 | LIG4 | c.687T>A (p.Tyr229Ter) c.888T>A (p.Tyr296Ter) c.924T>A (p.Tyr308Ter) c.900T>A (p.Tyr300Ter) | |
13 | g.108210382T>A | CA388619404 | LIG4 | c.686A>T (p.Tyr229Phe) c.887A>T (p.Tyr296Phe) c.923A>T (p.Tyr308Phe) c.899A>T (p.Tyr300Phe) | |
13 | g.108210382T>C | CA388619407 | LIG4 | c.686A>G (p.Tyr229Cys) c.887A>G (p.Tyr296Cys) c.923A>G (p.Tyr308Cys) c.899A>G (p.Tyr300Cys) | gnomAD v4 |
13 | g.108210382T>G | CA388619410 | LIG4 | c.686A>C (p.Tyr229Ser) c.887A>C (p.Tyr296Ser) c.923A>C (p.Tyr308Ser) c.899A>C (p.Tyr300Ser) | |
13 | g.108210383A>C | CA388619419 | LIG4 | c.685T>G (p.Tyr229Asp) c.886T>G (p.Tyr296Asp) c.922T>G (p.Tyr308Asp) c.898T>G (p.Tyr300Asp) | |
13 | g.108210383A>G | CA388619415 | LIG4 | c.685T>C (p.Tyr229His) c.886T>C (p.Tyr296His) c.922T>C (p.Tyr308His) c.898T>C (p.Tyr300His) | |
13 | g.108210383A>T | CA388619417 | LIG4 | c.685T>A (p.Tyr229Asn) c.886T>A (p.Tyr296Asn) c.922T>A (p.Tyr308Asn) c.898T>A (p.Tyr300Asn) | |
13 | g.108210384T>A | CA484975986 | LIG4 | c.684A>T (p.Gly228=) c.885A>T (p.Gly295=) c.921A>T (p.Gly307=) c.897A>T (p.Gly299=) | |
13 | g.108210384T>C | CA7043784 | LIG4 | c.684A>G (p.Gly228=) c.885A>G (p.Gly295=) c.921A>G (p.Gly307=) c.897A>G (p.Gly299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108210384T>G | CA484975987 | LIG4 | c.684A>C (p.Gly228=) c.885A>C (p.Gly295=) c.921A>C (p.Gly307=) c.897A>C (p.Gly299=) | |
13 | g.108210384T= | CA2117794612 | LIG4 | c.684A= (p.Gly228=) c.885A= (p.Gly295=) c.921A= (p.Gly307=) c.897A= (p.Gly299=) | |
13 | g.108210385C>A | CA388619424 | LIG4 | c.683G>T (p.Gly228Val) c.884G>T (p.Gly295Val) c.920G>T (p.Gly307Val) c.896G>T (p.Gly299Val) | dbSNP |
13 | g.108210385C= | CA2117794614 | LIG4 | c.683G= (p.Gly228=) c.884G= (p.Gly295=) c.920G= (p.Gly307=) c.896G= (p.Gly299=) | |
13 | g.108210385C>G | CA388619427 | LIG4 | c.683G>C (p.Gly228Ala) c.884G>C (p.Gly295Ala) c.920G>C (p.Gly307Ala) c.896G>C (p.Gly299Ala) | |
13 | g.108210385C>T | CA388619436 | LIG4 | c.683G>A (p.Gly228Glu) c.884G>A (p.Gly295Glu) c.920G>A (p.Gly307Glu) c.896G>A (p.Gly299Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108210385_108210390delinsCCATTT | CA2117794613 | LIG4 | c.678_683delinsAAATGG (p.Arg226=) c.879_884delinsAAATGG (p.Arg293=) c.915_920delinsAAATGG (p.Arg305=) c.891_896delinsAAATGG (p.Arg297=) | |
13 | g.108210386C>A | CA388619439 | LIG4 | c.682G>T (p.Gly228Ter) c.883G>T (p.Gly295Ter) c.919G>T (p.Gly307Ter) c.895G>T (p.Gly299Ter) | |
13 | g.108210386C= | CA2117794615 | LIG4 | c.682G= (p.Gly228=) c.883G= (p.Gly295=) c.919G= (p.Gly307=) c.895G= (p.Gly299=) | |
13 | g.108210386C>G | CA388619440 | LIG4 | c.682G>C (p.Gly228Arg) c.883G>C (p.Gly295Arg) c.919G>C (p.Gly307Arg) c.895G>C (p.Gly299Arg) | |
13 | g.108210386C>T | CA7043786 | LIG4 | c.682G>A (p.Gly228Arg) c.883G>A (p.Gly295Arg) c.919G>A (p.Gly307Arg) c.895G>A (p.Gly299Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210387_108210391del | CA7043785 | LIG4 | c.678_682del (p.Asn227IlefsTer2) c.879_883del (p.Asn294IlefsTer2) c.915_919del (p.Asn306IlefsTer2) c.891_895del (p.Asn298IlefsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108210387A>C | CA388619448 | LIG4 | c.681T>G (p.Asn227Lys) c.882T>G (p.Asn294Lys) c.918T>G (p.Asn306Lys) c.894T>G (p.Asn298Lys) | |
13 | g.108210387A>G | CA484975992 | LIG4 | c.681T>C (p.Asn227=) c.882T>C (p.Asn294=) c.918T>C (p.Asn306=) c.894T>C (p.Asn298=) | |
13 | g.108210387A>T | CA388619450 | LIG4 | c.681T>A (p.Asn227Lys) c.882T>A (p.Asn294Lys) c.918T>A (p.Asn306Lys) c.894T>A (p.Asn298Lys) | |
13 | g.108210388T>A | CA388619459 | LIG4 | c.680A>T (p.Asn227Ile) c.881A>T (p.Asn294Ile) c.917A>T (p.Asn306Ile) c.893A>T (p.Asn298Ile) | |
13 | g.108210388T>C | CA388619461 | LIG4 | c.680A>G (p.Asn227Ser) c.881A>G (p.Asn294Ser) c.917A>G (p.Asn306Ser) c.893A>G (p.Asn298Ser) | dbSNP gnomAD v4 |
13 | g.108210388T>G | CA388619454 | LIG4 | c.680A>C (p.Asn227Thr) c.881A>C (p.Asn294Thr) c.917A>C (p.Asn306Thr) c.893A>C (p.Asn298Thr) | |
13 | g.108210388T= | CA2117794616 | LIG4 | c.680A= (p.Asn227=) c.881A= (p.Asn294=) c.917A= (p.Asn306=) c.893A= (p.Asn298=) | |
13 | g.108210389T>A | CA388619469 | LIG4 | c.679A>T (p.Asn227Tyr) c.880A>T (p.Asn294Tyr) c.916A>T (p.Asn306Tyr) c.892A>T (p.Asn298Tyr) | |
13 | g.108210389T>C | CA388619470 | LIG4 | c.679A>G (p.Asn227Asp) c.880A>G (p.Asn294Asp) c.916A>G (p.Asn306Asp) c.892A>G (p.Asn298Asp) | |
13 | g.108210389T>G | CA388619475 | LIG4 | c.679A>C (p.Asn227His) c.880A>C (p.Asn294His) c.916A>C (p.Asn306His) c.892A>C (p.Asn298His) | |
13 | g.108210390T>A | CA484975996 | LIG4 | c.678A>T (p.Arg226=) c.879A>T (p.Arg293=) c.915A>T (p.Arg305=) c.891A>T (p.Arg297=) | |
13 | g.108210390T>C | CA484975999 | LIG4 | c.678A>G (p.Arg226=) c.879A>G (p.Arg293=) c.915A>G (p.Arg305=) c.891A>G (p.Arg297=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108210390T>G | CA484976000 | LIG4 | c.678A>C (p.Arg226=) c.879A>C (p.Arg293=) c.915A>C (p.Arg305=) c.891A>C (p.Arg297=) | dbSNP gnomAD v4 |
13 | g.108210390T= | CA2117794617 | LIG4 | c.678A= (p.Arg226=) c.879A= (p.Arg293=) c.915A= (p.Arg305=) c.891A= (p.Arg297=) | |
13 | g.108210391C>A | CA388619479 | LIG4 | c.677G>T (p.Arg226Leu) c.878G>T (p.Arg293Leu) c.914G>T (p.Arg305Leu) c.890G>T (p.Arg297Leu) | |
13 | g.108210391C= | CA2117794618 | LIG4 | c.677G= (p.Arg226=) c.878G= (p.Arg293=) c.914G= (p.Arg305=) c.890G= (p.Arg297=) | |
13 | g.108210391C>G | CA388619485 | LIG4 | c.677G>C (p.Arg226Pro) c.878G>C (p.Arg293Pro) c.914G>C (p.Arg305Pro) c.890G>C (p.Arg297Pro) | |
13 | g.108210391C>T | CA7043787 | LIG4 | c.677G>A (p.Arg226Gln) c.878G>A (p.Arg293Gln) c.914G>A (p.Arg305Gln) c.890G>A (p.Arg297Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210392G>A | CA256182179 | LIG4 | c.676C>T (p.Arg226Ter) c.877C>T (p.Arg293Ter) c.913C>T (p.Arg305Ter) c.889C>T (p.Arg297Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210392G>C | CA388619489 | LIG4 | c.676C>G (p.Arg226Gly) c.877C>G (p.Arg293Gly) c.913C>G (p.Arg305Gly) c.889C>G (p.Arg297Gly) | |
13 | g.108210392G= | CA2117794619 | LIG4 | c.676C= (p.Arg226=) c.877C= (p.Arg293=) c.913C= (p.Arg305=) c.889C= (p.Arg297=) | |
13 | g.108210392G>T | CA484976004 | LIG4 | c.676C>A (p.Arg226=) c.877C>A (p.Arg293=) c.913C>A (p.Arg305=) c.889C>A (p.Arg297=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.108210393A= | CA2117794620 | LIG4 | c.675T= (p.Ser225=) c.876T= (p.Ser292=) c.912T= (p.Ser304=) c.888T= (p.Ser296=) | |
13 | g.108210393A>C | CA484976008 | LIG4 | c.675T>G (p.Ser225=) c.876T>G (p.Ser292=) c.912T>G (p.Ser304=) c.888T>G (p.Ser296=) | |
13 | g.108210393A>G | CA256182184 | LIG4 | c.675T>C (p.Ser225=) c.876T>C (p.Ser292=) c.912T>C (p.Ser304=) c.888T>C (p.Ser296=) | dbSNP |
13 | g.108210393A>T | CA484976006 | LIG4 | c.675T>A (p.Ser225=) c.876T>A (p.Ser292=) c.912T>A (p.Ser304=) c.888T>A (p.Ser296=) | gnomAD v4 |
13 | g.108210394G>A | CA388619494 | LIG4 | c.674C>T (p.Ser225Phe) c.875C>T (p.Ser292Phe) c.911C>T (p.Ser304Phe) c.887C>T (p.Ser296Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108210394G>C | CA388619496 | LIG4 | c.674C>G (p.Ser225Cys) c.875C>G (p.Ser292Cys) c.911C>G (p.Ser304Cys) c.887C>G (p.Ser296Cys) | |
13 | g.108210394G= | CA2117794621 | LIG4 | c.674C= (p.Ser225=) c.875C= (p.Ser292=) c.911C= (p.Ser304=) c.887C= (p.Ser296=) | |
13 | g.108210394G>T | CA388619497 | LIG4 | c.674C>A (p.Ser225Tyr) c.875C>A (p.Ser292Tyr) c.911C>A (p.Ser304Tyr) c.887C>A (p.Ser296Tyr) | |
13 | g.108210395A>C | CA388619509 | LIG4 | c.673T>G (p.Ser225Ala) c.874T>G (p.Ser292Ala) c.910T>G (p.Ser304Ala) c.886T>G (p.Ser296Ala) | |
13 | g.108210395A>G | CA388619505 | LIG4 | c.673T>C (p.Ser225Pro) c.874T>C (p.Ser292Pro) c.910T>C (p.Ser304Pro) c.886T>C (p.Ser296Pro) | |
13 | g.108210395A>T | CA388619507 | LIG4 | c.673T>A (p.Ser225Thr) c.874T>A (p.Ser292Thr) c.910T>A (p.Ser304Thr) c.886T>A (p.Ser296Thr) | |
13 | g.108210396G>A | CA484976011 | LIG4 | c.672C>T (p.Phe224=) c.873C>T (p.Phe291=) c.909C>T (p.Phe303=) c.885C>T (p.Phe295=) | |
13 | g.108210396G>C | CA388619511 | LIG4 | c.672C>G (p.Phe224Leu) c.873C>G (p.Phe291Leu) c.909C>G (p.Phe303Leu) c.885C>G (p.Phe295Leu) | |
13 | g.108210396G>T | CA388619517 | LIG4 | c.672C>A (p.Phe224Leu) c.873C>A (p.Phe291Leu) c.909C>A (p.Phe303Leu) c.885C>A (p.Phe295Leu) | COSMIC |
13 | g.108210397A>C | CA388619520 | LIG4 | c.671T>G (p.Phe224Cys) c.872T>G (p.Phe291Cys) c.908T>G (p.Phe303Cys) c.884T>G (p.Phe295Cys) | |
13 | g.108210397A>G | CA388619521 | LIG4 | c.671T>C (p.Phe224Ser) c.872T>C (p.Phe291Ser) c.908T>C (p.Phe303Ser) c.884T>C (p.Phe295Ser) | |
13 | g.108210397A>T | CA388619523 | LIG4 | c.671T>A (p.Phe224Tyr) c.872T>A (p.Phe291Tyr) c.908T>A (p.Phe303Tyr) c.884T>A (p.Phe295Tyr) | |
13 | g.108210398A>C | CA388619526 | LIG4 | c.670T>G (p.Phe224Val) c.871T>G (p.Phe291Val) c.907T>G (p.Phe303Val) c.883T>G (p.Phe295Val) | |
13 | g.108210398A>G | CA388619528 | LIG4 | c.670T>C (p.Phe224Leu) c.871T>C (p.Phe291Leu) c.907T>C (p.Phe303Leu) c.883T>C (p.Phe295Leu) | |
13 | g.108210398A>T | CA388619531 | LIG4 | c.670T>A (p.Phe224Ile) c.871T>A (p.Phe291Ile) c.907T>A (p.Phe303Ile) c.883T>A (p.Phe295Ile) | |
13 | g.108210399G>A | CA484976020 | LIG4 | c.669C>T (p.Tyr223=) c.870C>T (p.Tyr290=) c.906C>T (p.Tyr302=) c.882C>T (p.Tyr294=) | |
13 | g.108210399G>C | CA388619533 | LIG4 | c.669C>G (p.Tyr223Ter) c.870C>G (p.Tyr290Ter) c.906C>G (p.Tyr302Ter) c.882C>G (p.Tyr294Ter) | |
13 | g.108210399G>T | CA388619537 | LIG4 | c.669C>A (p.Tyr223Ter) c.870C>A (p.Tyr290Ter) c.906C>A (p.Tyr302Ter) c.882C>A (p.Tyr294Ter) | |
13 | g.108210400T>A | CA7043788 | LIG4 | c.668A>T (p.Tyr223Phe) c.869A>T (p.Tyr290Phe) c.905A>T (p.Tyr302Phe) c.881A>T (p.Tyr294Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108210400T>C | CA388619542 | LIG4 | c.668A>G (p.Tyr223Cys) c.869A>G (p.Tyr290Cys) c.905A>G (p.Tyr302Cys) c.881A>G (p.Tyr294Cys) | |
13 | g.108210400T>G | CA388619544 | LIG4 | c.668A>C (p.Tyr223Ser) c.869A>C (p.Tyr290Ser) c.905A>C (p.Tyr302Ser) c.881A>C (p.Tyr294Ser) | |
13 | g.108210400T= | CA2117794622 | LIG4 | c.668A= (p.Tyr223=) c.869A= (p.Tyr290=) c.905A= (p.Tyr302=) c.881A= (p.Tyr294=) | |
13 | g.108210401A= | CA2117794623 | LIG4 | c.667T= (p.Tyr223=) c.868T= (p.Tyr290=) c.904T= (p.Tyr302=) c.880T= (p.Tyr294=) | |
13 | g.108210401A>C | CA388619556 | LIG4 | c.667T>G (p.Tyr223Asp) c.868T>G (p.Tyr290Asp) c.904T>G (p.Tyr302Asp) c.880T>G (p.Tyr294Asp) | |
13 | g.108210401A>G | CA388619558 | LIG4 | c.667T>C (p.Tyr223His) c.868T>C (p.Tyr290His) c.904T>C (p.Tyr302His) c.880T>C (p.Tyr294His) | dbSNP gnomAD v2 |
13 | g.108210401A>T | CA388619554 | LIG4 | c.667T>A (p.Tyr223Asn) c.868T>A (p.Tyr290Asn) c.904T>A (p.Tyr302Asn) c.880T>A (p.Tyr294Asn) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108210402T>A | CA388619562 | LIG4 | c.666A>T (p.Lys222Asn) c.867A>T (p.Lys289Asn) c.903A>T (p.Lys301Asn) c.879A>T (p.Lys293Asn) | |
13 | g.108210402T>C | CA484976027 | LIG4 | c.666A>G (p.Lys222=) c.867A>G (p.Lys289=) c.903A>G (p.Lys301=) c.879A>G (p.Lys293=) | |
13 | g.108210402T>G | CA388619561 | LIG4 | c.666A>C (p.Lys222Asn) c.867A>C (p.Lys289Asn) c.903A>C (p.Lys301Asn) c.879A>C (p.Lys293Asn) | |
13 | g.108210403T>A | CA388619566 | LIG4 | c.665A>T (p.Lys222Ile) c.866A>T (p.Lys289Ile) c.902A>T (p.Lys301Ile) c.878A>T (p.Lys293Ile) | |
13 | g.108210403T>C | CA388619569 | LIG4 | c.665A>G (p.Lys222Arg) c.866A>G (p.Lys289Arg) c.902A>G (p.Lys301Arg) c.878A>G (p.Lys293Arg) | |
13 | g.108210403T>G | CA388619572 | LIG4 | c.665A>C (p.Lys222Thr) c.866A>C (p.Lys289Thr) c.902A>C (p.Lys301Thr) c.878A>C (p.Lys293Thr) | |
13 | g.108210404T>A | CA388619575 | LIG4 | c.664A>T (p.Lys222Ter) c.865A>T (p.Lys289Ter) c.901A>T (p.Lys301Ter) c.877A>T (p.Lys293Ter) | |
13 | g.108210404T>C | CA388619577 | LIG4 | c.664A>G (p.Lys222Glu) c.865A>G (p.Lys289Glu) c.901A>G (p.Lys301Glu) c.877A>G (p.Lys293Glu) | |
13 | g.108210404T>G | CA388619578 | LIG4 | c.664A>C (p.Lys222Gln) c.865A>C (p.Lys289Gln) c.901A>C (p.Lys301Gln) c.877A>C (p.Lys293Gln) | |
13 | g.108210406_108210409del | CA2800532441 | LIG4 | c.661_664del (p.Tyr221AsnfsTer?) c.862_865del (p.Tyr288AsnfsTer?) c.898_901del (p.Tyr300AsnfsTer?) c.874_877del (p.Tyr292AsnfsTer?) | |
13 | g.108210405A= | CA2117794624 | LIG4 | c.663T= (p.Tyr221=) c.864T= (p.Tyr288=) c.900T= (p.Tyr300=) c.876T= (p.Tyr292=) | |
13 | g.108210405A>C | CA388619580 | LIG4 | c.663T>G (p.Tyr221Ter) c.864T>G (p.Tyr288Ter) c.900T>G (p.Tyr300Ter) c.876T>G (p.Tyr292Ter) | |
13 | g.108210405A>G | CA206386 | LIG4 | c.663T>C (p.Tyr221=) c.864T>C (p.Tyr288=) c.900T>C (p.Tyr300=) c.876T>C (p.Tyr292=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108210405A>T | CA388619583 | LIG4 | c.663T>A (p.Tyr221Ter) c.864T>A (p.Tyr288Ter) c.900T>A (p.Tyr300Ter) c.876T>A (p.Tyr292Ter) | |
13 | g.108210406T>A | CA388619584 | LIG4 | c.662A>T (p.Tyr221Phe) c.863A>T (p.Tyr288Phe) c.899A>T (p.Tyr300Phe) c.875A>T (p.Tyr292Phe) | |
13 | g.108210406T>C | CA388619588 | LIG4 | c.662A>G (p.Tyr221Cys) c.863A>G (p.Tyr288Cys) c.899A>G (p.Tyr300Cys) c.875A>G (p.Tyr292Cys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108210406T>G | CA388619589 | LIG4 | c.662A>C (p.Tyr221Ser) c.863A>C (p.Tyr288Ser) c.899A>C (p.Tyr300Ser) c.875A>C (p.Tyr292Ser) | |
13 | g.108210406T= | CA2117794625 | LIG4 | c.662A= (p.Tyr221=) c.863A= (p.Tyr288=) c.899A= (p.Tyr300=) c.875A= (p.Tyr292=) | |
13 | g.108210407A= | CA2117794626 | LIG4 | c.661T= (p.Tyr221=) c.862T= (p.Tyr288=) c.898T= (p.Tyr300=) c.874T= (p.Tyr292=) | |
13 | g.108210407A>C | CA388619591 | LIG4 | c.661T>G (p.Tyr221Asp) c.862T>G (p.Tyr288Asp) c.898T>G (p.Tyr300Asp) c.874T>G (p.Tyr292Asp) | |
13 | g.108210407A>G | CA388619593 | LIG4 | c.661T>C (p.Tyr221His) c.862T>C (p.Tyr288His) c.898T>C (p.Tyr300His) c.874T>C (p.Tyr292His) | ClinVar dbSNP |
13 | g.108210407A>T | CA388619592 | LIG4 | c.661T>A (p.Tyr221Asn) c.862T>A (p.Tyr288Asn) c.898T>A (p.Tyr300Asn) c.874T>A (p.Tyr292Asn) | |
13 | g.108210408T>A | CA484976034 | LIG4 | c.660A>T (p.Val220=) c.861A>T (p.Val287=) c.897A>T (p.Val299=) c.873A>T (p.Val291=) | |
13 | g.108210408T>C | CA484976036 | LIG4 | c.660A>G (p.Val220=) c.861A>G (p.Val287=) c.897A>G (p.Val299=) c.873A>G (p.Val291=) | ClinVar gnomAD v4 |
13 | g.108210408T>G | CA484976038 | LIG4 | c.660A>C (p.Val220=) c.861A>C (p.Val287=) c.897A>C (p.Val299=) c.873A>C (p.Val291=) | |
13 | g.108210409A= | CA2117794627 | LIG4 | c.659T= (p.Val220=) c.860T= (p.Val287=) c.896T= (p.Val299=) c.872T= (p.Val291=) | |
13 | g.108210409A>C | CA388619594 | LIG4 | c.659T>G (p.Val220Gly) c.860T>G (p.Val287Gly) c.896T>G (p.Val299Gly) c.872T>G (p.Val291Gly) | |
13 | g.108210409A>G | CA388619595 | LIG4 | c.659T>C (p.Val220Ala) c.860T>C (p.Val287Ala) c.896T>C (p.Val299Ala) c.872T>C (p.Val291Ala) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108210409A>T | CA388619596 | LIG4 | c.659T>A (p.Val220Glu) c.860T>A (p.Val287Glu) c.896T>A (p.Val299Glu) c.872T>A (p.Val291Glu) | |
13 | g.108210410C>A | CA388619597 | LIG4 | c.658G>T (p.Val220Leu) c.859G>T (p.Val287Leu) c.895G>T (p.Val299Leu) c.871G>T (p.Val291Leu) | |
13 | g.108210410C= | CA2117794628 | LIG4 | c.658G= (p.Val220=) c.859G= (p.Val287=) c.895G= (p.Val299=) c.871G= (p.Val291=) | |
13 | g.108210410C>G | CA388619598 | LIG4 | c.658G>C (p.Val220Leu) c.859G>C (p.Val287Leu) c.895G>C (p.Val299Leu) c.871G>C (p.Val291Leu) | |
13 | g.108210410C>T | CA256182200 | LIG4 | c.658G>A (p.Val220Ile) c.859G>A (p.Val287Ile) c.895G>A (p.Val299Ile) c.871G>A (p.Val291Ile) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108210411A>C | CA388619605 | LIG4 | c.657T>G (p.Asp219Glu) c.858T>G (p.Asp286Glu) c.894T>G (p.Asp298Glu) c.870T>G (p.Asp290Glu) | |
13 | g.108210411A>G | CA484976043 | LIG4 | c.657T>C (p.Asp219=) c.858T>C (p.Asp286=) c.894T>C (p.Asp298=) c.870T>C (p.Asp290=) | |
13 | g.108210411A>T | CA388619609 | LIG4 | c.657T>A (p.Asp219Glu) c.858T>A (p.Asp286Glu) c.894T>A (p.Asp298Glu) c.870T>A (p.Asp290Glu) | |
13 | g.108210412T>A | CA388619611 | LIG4 | c.656A>T (p.Asp219Val) c.857A>T (p.Asp286Val) c.893A>T (p.Asp298Val) c.869A>T (p.Asp290Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.108210412T>C | CA388619614 | LIG4 | c.656A>G (p.Asp219Gly) c.857A>G (p.Asp286Gly) c.893A>G (p.Asp298Gly) c.869A>G (p.Asp290Gly) | |
13 | g.108210412T>G | CA388619616 | LIG4 | c.656A>C (p.Asp219Ala) c.857A>C (p.Asp286Ala) c.893A>C (p.Asp298Ala) c.869A>C (p.Asp290Ala) | |
13 | g.108210412T= | CA2117794629 | LIG4 | c.656A= (p.Asp219=) c.857A= (p.Asp286=) c.893A= (p.Asp298=) c.869A= (p.Asp290=) | |
13 | g.108210413C>A | CA388619619 | LIG4 | c.655G>T (p.Asp219Tyr) c.856G>T (p.Asp286Tyr) c.892G>T (p.Asp298Tyr) c.868G>T (p.Asp290Tyr) | |
13 | g.108210413C= | CA2117794630 | LIG4 | c.655G= (p.Asp219=) c.856G= (p.Asp286=) c.892G= (p.Asp298=) c.868G= (p.Asp290=) | |
13 | g.108210413C>G | CA388619618 | LIG4 | c.655G>C (p.Asp219His) c.856G>C (p.Asp286His) c.892G>C (p.Asp298His) c.868G>C (p.Asp290His) | |
13 | g.108210413C>T | CA388619617 | LIG4 | c.655G>A (p.Asp219Asn) c.856G>A (p.Asp286Asn) c.892G>A (p.Asp298Asn) c.868G>A (p.Asp290Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.108210414T>A | CA484976048 | LIG4 | c.654A>T (p.Gly218=) c.855A>T (p.Gly285=) c.891A>T (p.Gly297=) c.867A>T (p.Gly289=) | gnomAD v4 |
13 | g.108210414T>C | CA484976049 | LIG4 | c.654A>G (p.Gly218=) c.855A>G (p.Gly285=) c.891A>G (p.Gly297=) c.867A>G (p.Gly289=) | gnomAD v4 |
13 | g.108210414T>G | CA484976050 | LIG4 | c.654A>C (p.Gly218=) c.855A>C (p.Gly285=) c.891A>C (p.Gly297=) c.867A>C (p.Gly289=) | gnomAD v4 |
13 | g.108210415C>A | CA7043789 | LIG4 | c.653G>T (p.Gly218Val) c.854G>T (p.Gly285Val) c.890G>T (p.Gly297Val) c.866G>T (p.Gly289Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108210415C= | CA2117794631 | LIG4 | c.653G= (p.Gly218=) c.854G= (p.Gly285=) c.890G= (p.Gly297=) c.866G= (p.Gly289=) | |
13 | g.108210415C>G | CA388619623 | LIG4 | c.653G>C (p.Gly218Ala) c.854G>C (p.Gly285Ala) c.890G>C (p.Gly297Ala) c.866G>C (p.Gly289Ala) | |
13 | g.108210415C>T | CA388619624 | LIG4 | c.653G>A (p.Gly218Glu) c.854G>A (p.Gly285Glu) c.890G>A (p.Gly297Glu) c.866G>A (p.Gly289Glu) | |
13 | g.108210416C>A | CA388619632 | LIG4 | c.652G>T (p.Gly218Ter) c.853G>T (p.Gly285Ter) c.889G>T (p.Gly297Ter) c.865G>T (p.Gly289Ter) | |
13 | g.108210416C>G | CA388619635 | LIG4 | c.652G>C (p.Gly218Arg) c.853G>C (p.Gly285Arg) c.889G>C (p.Gly297Arg) c.865G>C (p.Gly289Arg) | |
13 | g.108210416C>T | CA388619639 | LIG4 | c.652G>A (p.Gly218Arg) c.853G>A (p.Gly285Arg) c.889G>A (p.Gly297Arg) c.865G>A (p.Gly289Arg) | |
13 | g.108210417A>C | CA388619645 | LIG4 | c.651T>G (p.Asp217Glu) c.852T>G (p.Asp284Glu) c.888T>G (p.Asp296Glu) c.864T>G (p.Asp288Glu) | |
13 | g.108210417A>G | CA484976057 | LIG4 | c.651T>C (p.Asp217=) c.852T>C (p.Asp284=) c.888T>C (p.Asp296=) c.864T>C (p.Asp288=) | |
13 | g.108210417A>T | CA388619647 | LIG4 | c.651T>A (p.Asp217Glu) c.852T>A (p.Asp284Glu) c.888T>A (p.Asp296Glu) c.864T>A (p.Asp288Glu) | |
13 | g.108210418T>A | CA388619672 | LIG4 | c.650A>T (p.Asp217Val) c.851A>T (p.Asp284Val) c.887A>T (p.Asp296Val) c.863A>T (p.Asp288Val) | gnomAD v4 |
13 | g.108210418T>C | CA388619676 | LIG4 | c.650A>G (p.Asp217Gly) c.851A>G (p.Asp284Gly) c.887A>G (p.Asp296Gly) c.863A>G (p.Asp288Gly) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108210418T>G | CA388619680 | LIG4 | c.650A>C (p.Asp217Ala) c.851A>C (p.Asp284Ala) c.887A>C (p.Asp296Ala) c.863A>C (p.Asp288Ala) | |
13 | g.108210418T= | CA2117794632 | LIG4 | c.650A= (p.Asp217=) c.851A= (p.Asp284=) c.887A= (p.Asp296=) c.863A= (p.Asp288=) | |
13 | g.108210419C>A | CA388619683 | LIG4 | c.649G>T (p.Asp217Tyr) c.850G>T (p.Asp284Tyr) c.886G>T (p.Asp296Tyr) c.862G>T (p.Asp288Tyr) | |
13 | g.108210419C>G | CA388619688 | LIG4 | c.649G>C (p.Asp217His) c.850G>C (p.Asp284His) c.886G>C (p.Asp296His) c.862G>C (p.Asp288His) | |
13 | g.108210419C>T | CA388619689 | LIG4 | c.649G>A (p.Asp217Asn) c.850G>A (p.Asp284Asn) c.886G>A (p.Asp296Asn) c.862G>A (p.Asp288Asn) | |
13 | g.108210420T>A | CA388619691 | LIG4 | c.648A>T (p.Lys216Asn) c.849A>T (p.Lys283Asn) c.885A>T (p.Lys295Asn) c.861A>T (p.Lys287Asn) | |
13 | g.108210420T>C | CA484976059 | LIG4 | c.648A>G (p.Lys216=) c.849A>G (p.Lys283=) c.885A>G (p.Lys295=) c.861A>G (p.Lys287=) | |
13 | g.108210420T>G | CA388619690 | LIG4 | c.648A>C (p.Lys216Asn) c.849A>C (p.Lys283Asn) c.885A>C (p.Lys295Asn) c.861A>C (p.Lys287Asn) | |
13 | g.108210421T>A | CA388619695 | LIG4 | c.647A>T (p.Lys216Ile) c.848A>T (p.Lys283Ile) c.884A>T (p.Lys295Ile) c.860A>T (p.Lys287Ile) | dbSNP gnomAD v4 |
13 | g.108210421T>C | CA388619696 | LIG4 | c.647A>G (p.Lys216Arg) c.848A>G (p.Lys283Arg) c.884A>G (p.Lys295Arg) c.860A>G (p.Lys287Arg) | dbSNP |
13 | g.108210421T>G | CA388619697 | LIG4 | c.647A>C (p.Lys216Thr) c.848A>C (p.Lys283Thr) c.884A>C (p.Lys295Thr) c.860A>C (p.Lys287Thr) | |
13 | g.108210421T= | CA2117794633 | LIG4 | c.647A= (p.Lys216=) c.848A= (p.Lys283=) c.884A= (p.Lys295=) c.860A= (p.Lys287=) | |
13 | g.108210422T>A | CA388619698 | LIG4 | c.646A>T (p.Lys216Ter) c.847A>T (p.Lys283Ter) c.883A>T (p.Lys295Ter) c.859A>T (p.Lys287Ter) | |
13 | g.108210422T>C | CA388619699 | LIG4 | c.646A>G (p.Lys216Glu) c.847A>G (p.Lys283Glu) c.883A>G (p.Lys295Glu) c.859A>G (p.Lys287Glu) | ClinVar dbSNP |
13 | g.108210422T>G | CA388619705 | LIG4 | c.646A>C (p.Lys216Gln) c.847A>C (p.Lys283Gln) c.883A>C (p.Lys295Gln) c.859A>C (p.Lys287Gln) | |
13 | g.108210422T= | CA2117794634 | LIG4 | c.646A= (p.Lys216=) c.847A= (p.Lys283=) c.883A= (p.Lys295=) c.859A= (p.Lys287=) | |
13 | g.108210423G>A | CA484976063 | LIG4 | c.645C>T (p.His215=) c.846C>T (p.His282=) c.882C>T (p.His294=) c.858C>T (p.His286=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210423G>C | CA388619713 | LIG4 | c.645C>G (p.His215Gln) c.846C>G (p.His282Gln) c.882C>G (p.His294Gln) c.858C>G (p.His286Gln) | gnomAD v4 |
13 | g.108210423G= | CA2117794635 | LIG4 | c.645C= (p.His215=) c.846C= (p.His282=) c.882C= (p.His294=) c.858C= (p.His286=) | |
13 | g.108210423G>T | CA388619717 | LIG4 | c.645C>A (p.His215Gln) c.846C>A (p.His282Gln) c.882C>A (p.His294Gln) c.858C>A (p.His286Gln) | |
13 | g.108210424T>A | CA7043790 | LIG4 | c.644A>T (p.His215Leu) c.845A>T (p.His282Leu) c.881A>T (p.His294Leu) c.857A>T (p.His286Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210424T>C | CA388619757 | LIG4 | c.644A>G (p.His215Arg) c.845A>G (p.His282Arg) c.881A>G (p.His294Arg) c.857A>G (p.His286Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.108210424T>G | CA388619759 | LIG4 | c.644A>C (p.His215Pro) c.845A>C (p.His282Pro) c.881A>C (p.His294Pro) c.857A>C (p.His286Pro) | COSMIC |
13 | g.108210424T= | CA2117794636 | LIG4 | c.644A= (p.His215=) c.845A= (p.His282=) c.881A= (p.His294=) c.857A= (p.His286=) | |
13 | g.108210425G>A | CA388619762 | LIG4 | c.643C>T (p.His215Tyr) c.844C>T (p.His282Tyr) c.880C>T (p.His294Tyr) c.856C>T (p.His286Tyr) | |
13 | g.108210425G>C | CA388619763 | LIG4 | c.643C>G (p.His215Asp) c.844C>G (p.His282Asp) c.880C>G (p.His294Asp) c.856C>G (p.His286Asp) | |
13 | g.108210425G>T | CA388619764 | LIG4 | c.643C>A (p.His215Asn) c.844C>A (p.His282Asn) c.880C>A (p.His294Asn) c.856C>A (p.His286Asn) | |
13 | g.108210426C>A | CA388619769 | LIG4 | c.642G>T (p.Met214Ile) c.843G>T (p.Met281Ile) c.879G>T (p.Met293Ile) c.855G>T (p.Met285Ile) | |
13 | g.108210426C>G | CA388619770 | LIG4 | c.642G>C (p.Met214Ile) c.843G>C (p.Met281Ile) c.879G>C (p.Met293Ile) c.855G>C (p.Met285Ile) | |
13 | g.108210426C>T | CA388619768 | LIG4 | c.642G>A (p.Met214Ile) c.843G>A (p.Met281Ile) c.879G>A (p.Met293Ile) c.855G>A (p.Met285Ile) | |
13 | g.108210427A= | CA2117794637 | LIG4 | c.641T= (p.Met214=) c.842T= (p.Met281=) c.878T= (p.Met293=) c.854T= (p.Met285=) | |
13 | g.108210427A>C | CA388619771 | LIG4 | c.641T>G (p.Met214Arg) c.842T>G (p.Met281Arg) c.878T>G (p.Met293Arg) c.854T>G (p.Met285Arg) | |
13 | g.108210427A>G | CA388619775 | LIG4 | c.641T>C (p.Met214Thr) c.842T>C (p.Met281Thr) c.878T>C (p.Met293Thr) c.854T>C (p.Met285Thr) | ClinVar dbSNP |
13 | g.108210427A>T | CA388619772 | LIG4 | c.641T>A (p.Met214Lys) c.842T>A (p.Met281Lys) c.878T>A (p.Met293Lys) c.854T>A (p.Met285Lys) | |
13 | g.108210428T>A | CA388619777 | LIG4 | c.640A>T (p.Met214Leu) c.841A>T (p.Met281Leu) c.877A>T (p.Met293Leu) c.853A>T (p.Met285Leu) | |
13 | g.108210428T>C | CA388619778 | LIG4 | c.640A>G (p.Met214Val) c.841A>G (p.Met281Val) c.877A>G (p.Met293Val) c.853A>G (p.Met285Val) | gnomAD v4 |
13 | g.108210428T>G | CA388619779 | LIG4 | c.640A>C (p.Met214Leu) c.841A>C (p.Met281Leu) c.877A>C (p.Met293Leu) c.853A>C (p.Met285Leu) | |
13 | g.108210429T>A | CA388619780 | LIG4 | c.639A>T (p.Gln213His) c.840A>T (p.Gln280His) c.876A>T (p.Gln292His) c.852A>T (p.Gln284His) | |
13 | g.108210429T>C | CA484976074 | LIG4 | c.639A>G (p.Gln213=) c.840A>G (p.Gln280=) c.876A>G (p.Gln292=) c.852A>G (p.Gln284=) | ClinVar |
13 | g.108210429T>G | CA388619782 | LIG4 | c.639A>C (p.Gln213His) c.840A>C (p.Gln280His) c.876A>C (p.Gln292His) c.852A>C (p.Gln284His) | dbSNP gnomAD v4 |
13 | g.108210429T= | CA2117794638 | LIG4 | c.639A= (p.Gln213=) c.840A= (p.Gln280=) c.876A= (p.Gln292=) c.852A= (p.Gln284=) | |
13 | g.108210430T>A | CA388619790 | LIG4 | c.638A>T (p.Gln213Leu) c.839A>T (p.Gln280Leu) c.875A>T (p.Gln292Leu) c.851A>T (p.Gln284Leu) | |
13 | g.108210430T>C | CA388619805 | LIG4 | c.638A>G (p.Gln213Arg) c.839A>G (p.Gln280Arg) c.875A>G (p.Gln292Arg) c.851A>G (p.Gln284Arg) | ClinVar |
13 | g.108210430T>G | CA388619809 | LIG4 | c.638A>C (p.Gln213Pro) c.839A>C (p.Gln280Pro) c.875A>C (p.Gln292Pro) c.851A>C (p.Gln284Pro) | |
13 | g.108210431G>A | CA388619815 | LIG4 | c.637C>T (p.Gln213Ter) c.838C>T (p.Gln280Ter) c.874C>T (p.Gln292Ter) c.850C>T (p.Gln284Ter) | gnomAD v4 |
13 | g.108210431G>C | CA388619826 | LIG4 | c.637C>G (p.Gln213Glu) c.838C>G (p.Gln280Glu) c.874C>G (p.Gln292Glu) c.850C>G (p.Gln284Glu) | |
13 | g.108210431G= | CA2117794639 | LIG4 | c.637C= (p.Gln213=) c.838C= (p.Gln280=) c.874C= (p.Gln292=) c.850C= (p.Gln284=) | |
13 | g.108210431G>T | CA7043791 | LIG4 | c.637C>A (p.Gln213Lys) c.838C>A (p.Gln280Lys) c.874C>A (p.Gln292Lys) c.850C>A (p.Gln284Lys) | dbSNP ExAC gnomAD v2 |
13 | g.108210432C>A | CA388619844 | LIG4 | c.636G>T (p.Met212Ile) c.837G>T (p.Met279Ile) c.873G>T (p.Met291Ile) c.849G>T (p.Met283Ile) | |
13 | g.108210432C>G | CA388619839 | LIG4 | c.636G>C (p.Met212Ile) c.837G>C (p.Met279Ile) c.873G>C (p.Met291Ile) c.849G>C (p.Met283Ile) | |
13 | g.108210432C>T | CA388619835 | LIG4 | c.636G>A (p.Met212Ile) c.837G>A (p.Met279Ile) c.873G>A (p.Met291Ile) c.849G>A (p.Met283Ile) | |
13 | g.108210433A= | CA2117794640 | LIG4 | c.635T= (p.Met212=) c.836T= (p.Met279=) c.872T= (p.Met291=) c.848T= (p.Met283=) | |
13 | g.108210433A>C | CA388619850 | LIG4 | c.635T>G (p.Met212Arg) c.836T>G (p.Met279Arg) c.872T>G (p.Met291Arg) c.848T>G (p.Met283Arg) | ClinVar dbSNP |
13 | g.108210433A>G | CA388619852 | LIG4 | c.635T>C (p.Met212Thr) c.836T>C (p.Met279Thr) c.872T>C (p.Met291Thr) c.848T>C (p.Met283Thr) | |
13 | g.108210433A>T | CA388619854 | LIG4 | c.635T>A (p.Met212Lys) c.836T>A (p.Met279Lys) c.872T>A (p.Met291Lys) c.848T>A (p.Met283Lys) | |
13 | g.108210434T>A | CA388619856 | LIG4 | c.634A>T (p.Met212Leu) c.835A>T (p.Met279Leu) c.871A>T (p.Met291Leu) c.847A>T (p.Met283Leu) | |
13 | g.108210434T>C | CA388619858 | LIG4 | c.634A>G (p.Met212Val) c.835A>G (p.Met279Val) c.871A>G (p.Met291Val) c.847A>G (p.Met283Val) | |
13 | g.108210434T>G | CA388619859 | LIG4 | c.634A>C (p.Met212Leu) c.835A>C (p.Met279Leu) c.871A>C (p.Met291Leu) c.847A>C (p.Met283Leu) | |
13 | g.108210435A= | CA2117794641 | LIG4 | c.633T= (p.Arg211=) c.834T= (p.Arg278=) c.870T= (p.Arg290=) c.846T= (p.Arg282=) | |
13 | g.108210435A>C | CA484976080 | LIG4 | c.633T>G (p.Arg211=) c.834T>G (p.Arg278=) c.870T>G (p.Arg290=) c.846T>G (p.Arg282=) | |
13 | g.108210435A>G | CA7043792 | LIG4 | c.633T>C (p.Arg211=) c.834T>C (p.Arg278=) c.870T>C (p.Arg290=) c.846T>C (p.Arg282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210435A>T | CA484976081 | LIG4 | c.633T>A (p.Arg211=) c.834T>A (p.Arg278=) c.870T>A (p.Arg290=) c.846T>A (p.Arg282=) | |
13 | g.108210436C>A | CA388619863 | LIG4 | c.632G>T (p.Arg211Leu) c.833G>T (p.Arg278Leu) c.869G>T (p.Arg290Leu) c.845G>T (p.Arg282Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210436C= | CA2117794642 | LIG4 | c.632G= (p.Arg211=) c.833G= (p.Arg278=) c.869G= (p.Arg290=) c.845G= (p.Arg282=) | |
13 | g.108210436C>G | CA388619865 | LIG4 | c.632G>C (p.Arg211Pro) c.833G>C (p.Arg278Pro) c.869G>C (p.Arg290Pro) c.845G>C (p.Arg282Pro) | ClinVar gnomAD v4 |
13 | g.108210436C>T | CA118981 | LIG4 | c.632G>A (p.Arg211His) c.833G>A (p.Arg278His) c.869G>A (p.Arg290His) c.845G>A (p.Arg282His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108210437G>A | CA7043793 | LIG4 | c.631C>T (p.Arg211Cys) c.832C>T (p.Arg278Cys) c.868C>T (p.Arg290Cys) c.844C>T (p.Arg282Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210437G>C | CA388619889 | LIG4 | c.631C>G (p.Arg211Gly) c.832C>G (p.Arg278Gly) c.868C>G (p.Arg290Gly) c.844C>G (p.Arg282Gly) | ClinVar dbSNP |
13 | g.108210437G= | CA2117794643 | LIG4 | c.631C= (p.Arg211=) c.832C= (p.Arg278=) c.868C= (p.Arg290=) c.844C= (p.Arg282=) | |
13 | g.108210437G>T | CA388619895 | LIG4 | c.631C>A (p.Arg211Ser) c.832C>A (p.Arg278Ser) c.868C>A (p.Arg290Ser) c.844C>A (p.Arg282Ser) | ClinVar |
13 | g.108210438T>A | CA388619897 | LIG4 | c.630A>T (p.Glu210Asp) c.831A>T (p.Glu277Asp) c.867A>T (p.Glu289Asp) c.843A>T (p.Glu281Asp) | |
13 | g.108210438T>C | CA484976083 | LIG4 | c.630A>G (p.Glu210=) c.831A>G (p.Glu277=) c.867A>G (p.Glu289=) c.843A>G (p.Glu281=) | |
13 | g.108210438T>G | CA388619905 | LIG4 | c.630A>C (p.Glu210Asp) c.831A>C (p.Glu277Asp) c.867A>C (p.Glu289Asp) c.843A>C (p.Glu281Asp) | |
13 | g.108210439T>A | CA388619909 | LIG4 | c.629A>T (p.Glu210Val) c.830A>T (p.Glu277Val) c.866A>T (p.Glu289Val) c.842A>T (p.Glu281Val) | |
13 | g.108210439T>C | CA388619912 | LIG4 | c.629A>G (p.Glu210Gly) c.830A>G (p.Glu277Gly) c.866A>G (p.Glu289Gly) c.842A>G (p.Glu281Gly) | dbSNP |
13 | g.108210439T>G | CA388619913 | LIG4 | c.629A>C (p.Glu210Ala) c.830A>C (p.Glu277Ala) c.866A>C (p.Glu289Ala) c.842A>C (p.Glu281Ala) | |
13 | g.108210439T= | CA2117794644 | LIG4 | c.629A= (p.Glu210=) c.830A= (p.Glu277=) c.866A= (p.Glu289=) c.842A= (p.Glu281=) | |
13 | g.108210440C>A | CA388619916 | LIG4 | c.628G>T (p.Glu210Ter) c.829G>T (p.Glu277Ter) c.865G>T (p.Glu289Ter) c.841G>T (p.Glu281Ter) | |
13 | g.108210440C>G | CA388619917 | LIG4 | c.628G>C (p.Glu210Gln) c.829G>C (p.Glu277Gln) c.865G>C (p.Glu289Gln) c.841G>C (p.Glu281Gln) | |
13 | g.108210440C>T | CA388619918 | LIG4 | c.628G>A (p.Glu210Lys) c.829G>A (p.Glu277Lys) c.865G>A (p.Glu289Lys) c.841G>A (p.Glu281Lys) | |
13 | g.108210441A>C | CA484976088 | LIG4 | c.627T>G (p.Gly209=) c.828T>G (p.Gly276=) c.864T>G (p.Gly288=) c.840T>G (p.Gly280=) | |
13 | g.108210441A>G | CA484976087 | LIG4 | c.627T>C (p.Gly209=) c.828T>C (p.Gly276=) c.864T>C (p.Gly288=) c.840T>C (p.Gly280=) | dbSNP |
13 | g.108210441A>T | CA484976086 | LIG4 | c.627T>A (p.Gly209=) c.828T>A (p.Gly276=) c.864T>A (p.Gly288=) c.840T>A (p.Gly280=) | |
13 | g.108210442C>A | CA388619938 | LIG4 | c.626G>T (p.Gly209Val) c.827G>T (p.Gly276Val) c.863G>T (p.Gly288Val) c.839G>T (p.Gly280Val) | dbSNP |
13 | g.108210442C= | CA2117794645 | LIG4 | c.626G= (p.Gly209=) c.827G= (p.Gly276=) c.863G= (p.Gly288=) c.839G= (p.Gly280=) | |
13 | g.108210442C>G | CA388619920 | LIG4 | c.626G>C (p.Gly209Ala) c.827G>C (p.Gly276Ala) c.863G>C (p.Gly288Ala) c.839G>C (p.Gly280Ala) | |
13 | g.108210442C>T | CA7043794 | LIG4 | c.626G>A (p.Gly209Asp) c.827G>A (p.Gly276Asp) c.863G>A (p.Gly288Asp) c.839G>A (p.Gly280Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210443C>A | CA388619944 | LIG4 | c.625G>T (p.Gly209Cys) c.826G>T (p.Gly276Cys) c.862G>T (p.Gly288Cys) c.838G>T (p.Gly280Cys) | |
13 | g.108210443C>G | CA388619945 | LIG4 | c.625G>C (p.Gly209Arg) c.826G>C (p.Gly276Arg) c.862G>C (p.Gly288Arg) c.838G>C (p.Gly280Arg) | |
13 | g.108210443C>T | CA388619946 | LIG4 | c.625G>A (p.Gly209Ser) c.826G>A (p.Gly276Ser) c.862G>A (p.Gly288Ser) c.838G>A (p.Gly280Ser) | gnomAD v4 |
13 | g.108210444A>C | CA388619947 | LIG4 | c.624T>G (p.Asp208Glu) c.825T>G (p.Asp275Glu) c.861T>G (p.Asp287Glu) c.837T>G (p.Asp279Glu) | |
13 | g.108210444A>G | CA484976092 | LIG4 | c.624T>C (p.Asp208=) c.825T>C (p.Asp275=) c.861T>C (p.Asp287=) c.837T>C (p.Asp279=) | |
13 | g.108210444A>T | CA388619949 | LIG4 | c.624T>A (p.Asp208Glu) c.825T>A (p.Asp275Glu) c.861T>A (p.Asp287Glu) c.837T>A (p.Asp279Glu) | |
13 | g.108210445T>A | CA388619952 | LIG4 | c.623A>T (p.Asp208Val) c.824A>T (p.Asp275Val) c.860A>T (p.Asp287Val) c.836A>T (p.Asp279Val) | |
13 | g.108210445T>C | CA388619954 | LIG4 | c.623A>G (p.Asp208Gly) c.824A>G (p.Asp275Gly) c.860A>G (p.Asp287Gly) c.836A>G (p.Asp279Gly) | gnomAD v4 |
13 | g.108210445T>G | CA388619953 | LIG4 | c.623A>C (p.Asp208Ala) c.824A>C (p.Asp275Ala) c.860A>C (p.Asp287Ala) c.836A>C (p.Asp279Ala) | |
13 | g.108210446C>A | CA388619955 | LIG4 | c.622G>T (p.Asp208Tyr) c.823G>T (p.Asp275Tyr) c.859G>T (p.Asp287Tyr) c.835G>T (p.Asp279Tyr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108210446C= | CA2117794646 | LIG4 | c.622G= (p.Asp208=) c.823G= (p.Asp275=) c.859G= (p.Asp287=) c.835G= (p.Asp279=) | |
13 | g.108210446C>G | CA388619959 | LIG4 | c.622G>C (p.Asp208His) c.823G>C (p.Asp275His) c.859G>C (p.Asp287His) c.835G>C (p.Asp279His) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108210446C>T | CA388619960 | LIG4 | c.622G>A (p.Asp208Asn) c.823G>A (p.Asp275Asn) c.859G>A (p.Asp287Asn) c.835G>A (p.Asp279Asn) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108210447T>A | CA484976098 | LIG4 | c.621A>T (p.Leu207=) c.822A>T (p.Leu274=) c.858A>T (p.Leu286=) c.834A>T (p.Leu278=) | |
13 | g.108210447T>C | CA484976100 | LIG4 | c.621A>G (p.Leu207=) c.822A>G (p.Leu274=) c.858A>G (p.Leu286=) c.834A>G (p.Leu278=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108210447T>G | CA484976101 | LIG4 | c.621A>C (p.Leu207=) c.822A>C (p.Leu274=) c.858A>C (p.Leu286=) c.834A>C (p.Leu278=) | |
13 | g.108210447T= | CA2117794647 | LIG4 | c.621A= (p.Leu207=) c.822A= (p.Leu274=) c.858A= (p.Leu286=) c.834A= (p.Leu278=) | |
13 | g.108210448A>C | CA388619961 | LIG4 | c.620T>G (p.Leu207Arg) c.821T>G (p.Leu274Arg) c.857T>G (p.Leu286Arg) c.833T>G (p.Leu278Arg) | |
13 | g.108210448A>G | CA388619962 | LIG4 | c.620T>C (p.Leu207Pro) c.821T>C (p.Leu274Pro) c.857T>C (p.Leu286Pro) c.833T>C (p.Leu278Pro) | |
13 | g.108210448A>T | CA388619969 | LIG4 | c.620T>A (p.Leu207Gln) c.821T>A (p.Leu274Gln) c.857T>A (p.Leu286Gln) c.833T>A (p.Leu278Gln) | |
13 | g.108210449G>A | CA484976102 | LIG4 | c.619C>T (p.Leu207=) c.820C>T (p.Leu274=) c.856C>T (p.Leu286=) c.832C>T (p.Leu278=) | |
13 | g.108210449G>C | CA388619974 | LIG4 | c.619C>G (p.Leu207Val) c.820C>G (p.Leu274Val) c.856C>G (p.Leu286Val) c.832C>G (p.Leu278Val) | |
13 | g.108210449G>T | CA388619978 | LIG4 | c.619C>A (p.Leu207Ile) c.820C>A (p.Leu274Ile) c.856C>A (p.Leu286Ile) c.832C>A (p.Leu278Ile) | gnomAD v4 |