Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108210336_108210339dupCA7043774LIG4c.729_732dup (p.Thr245SerfsTer7)
c.930_933dup (p.Thr312SerfsTer7)
c.966_969dup (p.Thr324SerfsTer7)
c.942_945dup (p.Thr316SerfsTer7)
 dbSNP ExAC gnomAD v2
13g.108210338G>ACA388619262LIG4c.730C>T (p.Leu244Phe)
c.931C>T (p.Leu311Phe)
c.967C>T (p.Leu323Phe)
c.943C>T (p.Leu315Phe)
13g.108210338G>CCA388619263LIG4c.730C>G (p.Leu244Val)
c.931C>G (p.Leu311Val)
c.967C>G (p.Leu323Val)
c.943C>G (p.Leu315Val)
13g.108210338G>TCA388619264LIG4c.730C>A (p.Leu244Ile)
c.931C>A (p.Leu311Ile)
c.967C>A (p.Leu323Ile)
c.943C>A (p.Leu315Ile)
 gnomAD v4
13g.108210339A>CCA484975633LIG4c.729T>G (p.Ser243=)
c.930T>G (p.Ser310=)
c.966T>G (p.Ser322=)
c.942T>G (p.Ser314=)
13g.108210339A>GCA484975634LIG4c.729T>C (p.Ser243=)
c.930T>C (p.Ser310=)
c.966T>C (p.Ser322=)
c.942T>C (p.Ser314=)
13g.108210339A>TCA484975635LIG4c.729T>A (p.Ser243=)
c.930T>A (p.Ser310=)
c.966T>A (p.Ser322=)
c.942T>A (p.Ser314=)
13g.108210340G>ACA388619265LIG4c.728C>T (p.Ser243Phe)
c.929C>T (p.Ser310Phe)
c.965C>T (p.Ser322Phe)
c.941C>T (p.Ser314Phe)
13g.108210340G>CCA388619267LIG4c.728C>G (p.Ser243Cys)
c.929C>G (p.Ser310Cys)
c.965C>G (p.Ser322Cys)
c.941C>G (p.Ser314Cys)
 dbSNP gnomAD v2 gnomAD v4
13g.108210340G=CA2117794595LIG4c.728C= (p.Ser243=)
c.929C= (p.Ser310=)
c.965C= (p.Ser322=)
c.941C= (p.Ser314=)
13g.108210340G>TCA388619268LIG4c.728C>A (p.Ser243Tyr)
c.929C>A (p.Ser310Tyr)
c.965C>A (p.Ser322Tyr)
c.941C>A (p.Ser314Tyr)
13g.108210341A>CCA388619270LIG4c.727T>G (p.Ser243Ala)
c.928T>G (p.Ser310Ala)
c.964T>G (p.Ser322Ala)
c.940T>G (p.Ser314Ala)
13g.108210341A>GCA388619275LIG4c.727T>C (p.Ser243Pro)
c.928T>C (p.Ser310Pro)
c.964T>C (p.Ser322Pro)
c.940T>C (p.Ser314Pro)
13g.108210341A>TCA388619276LIG4c.727T>A (p.Ser243Thr)
c.928T>A (p.Ser310Thr)
c.964T>A (p.Ser322Thr)
c.940T>A (p.Ser314Thr)
13g.108210342A=CA2117794596LIG4c.726T= (p.Gly242=)
c.927T= (p.Gly309=)
c.963T= (p.Gly321=)
c.939T= (p.Gly313=)
13g.108210342A>CCA484975637LIG4c.726T>G (p.Gly242=)
c.927T>G (p.Gly309=)
c.963T>G (p.Gly321=)
c.939T>G (p.Gly313=)
13g.108210342A>GCA484975638LIG4c.726T>C (p.Gly242=)
c.927T>C (p.Gly309=)
c.963T>C (p.Gly321=)
c.939T>C (p.Gly313=)
13g.108210342A>TCA484975639LIG4c.726T>A (p.Gly242=)
c.927T>A (p.Gly309=)
c.963T>A (p.Gly321=)
c.939T>A (p.Gly313=)
 dbSNP gnomAD v2
13g.108210343C>ACA388619280LIG4c.725G>T (p.Gly242Val)
c.926G>T (p.Gly309Val)
c.962G>T (p.Gly321Val)
c.938G>T (p.Gly313Val)
 COSMIC
13g.108210343C>GCA388619277LIG4c.725G>C (p.Gly242Ala)
c.926G>C (p.Gly309Ala)
c.962G>C (p.Gly321Ala)
c.938G>C (p.Gly313Ala)
13g.108210343C>TCA388619278LIG4c.725G>A (p.Gly242Asp)
c.926G>A (p.Gly309Asp)
c.962G>A (p.Gly321Asp)
c.938G>A (p.Gly313Asp)
13g.108210344C>ACA388619281LIG4c.724G>T (p.Gly242Cys)
c.925G>T (p.Gly309Cys)
c.961G>T (p.Gly321Cys)
c.937G>T (p.Gly313Cys)
13g.108210344C>GCA388619283LIG4c.724G>C (p.Gly242Arg)
c.925G>C (p.Gly309Arg)
c.961G>C (p.Gly321Arg)
c.937G>C (p.Gly313Arg)
13g.108210344C>TCA388619285LIG4c.724G>A (p.Gly242Ser)
c.925G>A (p.Gly309Ser)
c.961G>A (p.Gly321Ser)
c.937G>A (p.Gly313Ser)
13g.108210345T>ACA388619286LIG4c.723A>T (p.Glu241Asp)
c.924A>T (p.Glu308Asp)
c.960A>T (p.Glu320Asp)
c.936A>T (p.Glu312Asp)
13g.108210345T>CCA484975642LIG4c.723A>G (p.Glu241=)
c.924A>G (p.Glu308=)
c.960A>G (p.Glu320=)
c.936A>G (p.Glu312=)
13g.108210345T>GCA388619287LIG4c.723A>C (p.Glu241Asp)
c.924A>C (p.Glu308Asp)
c.960A>C (p.Glu320Asp)
c.936A>C (p.Glu312Asp)
13g.108210346T>ACA388619288LIG4c.722A>T (p.Glu241Val)
c.923A>T (p.Glu308Val)
c.959A>T (p.Glu320Val)
c.935A>T (p.Glu312Val)
13g.108210346T>CCA388619289LIG4c.722A>G (p.Glu241Gly)
c.923A>G (p.Glu308Gly)
c.959A>G (p.Glu320Gly)
c.935A>G (p.Glu312Gly)
13g.108210346T>GCA388619291LIG4c.722A>C (p.Glu241Ala)
c.923A>C (p.Glu308Ala)
c.959A>C (p.Glu320Ala)
c.935A>C (p.Glu312Ala)
13g.108210347C>ACA388619292LIG4c.721G>T (p.Glu241Ter)
c.922G>T (p.Glu308Ter)
c.958G>T (p.Glu320Ter)
c.934G>T (p.Glu312Ter)
13g.108210347C>GCA388619294LIG4c.721G>C (p.Glu241Gln)
c.922G>C (p.Glu308Gln)
c.958G>C (p.Glu320Gln)
c.934G>C (p.Glu312Gln)
13g.108210347C>TCA388619295LIG4c.721G>A (p.Glu241Lys)
c.922G>A (p.Glu308Lys)
c.958G>A (p.Glu320Lys)
c.934G>A (p.Glu312Lys)
 gnomAD v4
13g.108210348A=CA2117794597LIG4c.720T= (p.Thr240=)
c.921T= (p.Thr307=)
c.957T= (p.Thr319=)
c.933T= (p.Thr311=)
13g.108210348A>CCA7043775LIG4c.720T>G (p.Thr240=)
c.921T>G (p.Thr307=)
c.957T>G (p.Thr319=)
c.933T>G (p.Thr311=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108210348A>GCA484975647LIG4c.720T>C (p.Thr240=)
c.921T>C (p.Thr307=)
c.957T>C (p.Thr319=)
c.933T>C (p.Thr311=)
 dbSNP
13g.108210348A>TCA484975649LIG4c.720T>A (p.Thr240=)
c.921T>A (p.Thr307=)
c.957T>A (p.Thr319=)
c.933T>A (p.Thr311=)
13g.108210349G>ACA388619297LIG4c.719C>T (p.Thr240Ile)
c.920C>T (p.Thr307Ile)
c.956C>T (p.Thr319Ile)
c.932C>T (p.Thr311Ile)
13g.108210349G>CCA388619299LIG4c.719C>G (p.Thr240Ser)
c.920C>G (p.Thr307Ser)
c.956C>G (p.Thr319Ser)
c.932C>G (p.Thr311Ser)
13g.108210349G>TCA388619298LIG4c.719C>A (p.Thr240Asn)
c.920C>A (p.Thr307Asn)
c.956C>A (p.Thr319Asn)
c.932C>A (p.Thr311Asn)
13g.108210350T>ACA388619300LIG4c.718A>T (p.Thr240Ser)
c.919A>T (p.Thr307Ser)
c.955A>T (p.Thr319Ser)
c.931A>T (p.Thr311Ser)
13g.108210350T>CCA7043776LIG4c.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
13g.108210350T>GCA7043777LIG4c.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
13g.108210350T=CA2117794598LIG4c.718A= (p.Thr240=)
c.919A= (p.Thr307=)
c.955A= (p.Thr319=)
c.931A= (p.Thr311=)
13g.108210350_108210353delinsTAGGCA2117794599LIG4c.715_718delinsCCTA (p.Pro239=)
c.916_919delinsCCTA (p.Pro306=)
c.952_955delinsCCTA (p.Pro318=)
c.928_931delinsCCTA (p.Pro310=)
13g.108210351A>CCA484975657LIG4c.717T>G (p.Pro239=)
c.918T>G (p.Pro306=)
c.954T>G (p.Pro318=)
c.930T>G (p.Pro310=)
13g.108210351A>GCA484975658LIG4c.717T>C (p.Pro239=)
c.918T>C (p.Pro306=)
c.954T>C (p.Pro318=)
c.930T>C (p.Pro310=)
13g.108210351A>TCA484975659LIG4c.717T>A (p.Pro239=)
c.918T>A (p.Pro306=)
c.954T>A (p.Pro318=)
c.930T>A (p.Pro310=)
13g.108210353_108210355delCA612360454LIG4c.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
13g.108210352G>ACA388619301LIG4c.716C>T (p.Pro239Leu)
c.917C>T (p.Pro306Leu)
c.953C>T (p.Pro318Leu)
c.929C>T (p.Pro310Leu)
 gnomAD v4
13g.108210352G>CCA388619303LIG4c.716C>G (p.Pro239Arg)
c.917C>G (p.Pro306Arg)
c.953C>G (p.Pro318Arg)
c.929C>G (p.Pro310Arg)
13g.108210352G>TCA388619302LIG4c.716C>A (p.Pro239His)
c.917C>A (p.Pro306His)
c.953C>A (p.Pro318His)
c.929C>A (p.Pro310His)
13g.108210353G>ACA388619304LIG4c.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
13g.108210353G>CCA388619305LIG4c.715C>G (p.Pro239Ala)
c.916C>G (p.Pro306Ala)
c.952C>G (p.Pro318Ala)
c.928C>G (p.Pro310Ala)
 gnomAD v4
13g.108210353G=CA2117794600LIG4c.715C= (p.Pro239=)
c.916C= (p.Pro306=)
c.952C= (p.Pro318=)
c.928C= (p.Pro310=)
13g.108210353G>TCA388619306LIG4c.715C>A (p.Pro239Thr)
c.916C>A (p.Pro306Thr)
c.952C>A (p.Pro318Thr)
c.928C>A (p.Pro310Thr)
13g.108210354A=CA2117794601LIG4c.714T= (p.Ser238=)
c.915T= (p.Ser305=)
c.951T= (p.Ser317=)
c.927T= (p.Ser309=)
13g.108210354A>CCA484975665LIG4c.714T>G (p.Ser238=)
c.915T>G (p.Ser305=)
c.951T>G (p.Ser317=)
c.927T>G (p.Ser309=)
13g.108210354A>GCA7043778LIG4c.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
13g.108210354A>TCA484975666LIG4c.714T>A (p.Ser238=)
c.915T>A (p.Ser305=)
c.951T>A (p.Ser317=)
c.927T>A (p.Ser309=)
13g.108210355G>ACA388619307LIG4c.713C>T (p.Ser238Phe)
c.914C>T (p.Ser305Phe)
c.950C>T (p.Ser317Phe)
c.926C>T (p.Ser309Phe)
13g.108210355G>CCA388619308LIG4c.713C>G (p.Ser238Cys)
c.914C>G (p.Ser305Cys)
c.950C>G (p.Ser317Cys)
c.926C>G (p.Ser309Cys)
13g.108210355G>TCA388619309LIG4c.713C>A (p.Ser238Tyr)
c.914C>A (p.Ser305Tyr)
c.950C>A (p.Ser317Tyr)
c.926C>A (p.Ser309Tyr)
13g.108210356A>CCA388619310LIG4c.712T>G (p.Ser238Ala)
c.913T>G (p.Ser305Ala)
c.949T>G (p.Ser317Ala)
c.925T>G (p.Ser309Ala)
13g.108210356A>GCA388619312LIG4c.712T>C (p.Ser238Pro)
c.913T>C (p.Ser305Pro)
c.949T>C (p.Ser317Pro)
c.925T>C (p.Ser309Pro)
13g.108210356A>TCA388619311LIG4c.712T>A (p.Ser238Thr)
c.913T>A (p.Ser305Thr)
c.949T>A (p.Ser317Thr)
c.925T>A (p.Ser309Thr)
13g.108210357A=CA2117794602LIG4c.711T= (p.Ala237=)
c.912T= (p.Ala304=)
c.948T= (p.Ala316=)
c.924T= (p.Ala308=)
13g.108210357A>CCA7043779LIG4c.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
13g.108210357A>GCA484975675LIG4c.711T>C (p.Ala237=)
c.912T>C (p.Ala304=)
c.948T>C (p.Ala316=)
c.924T>C (p.Ala308=)
13g.108210357A>TCA484975676LIG4c.711T>A (p.Ala237=)
c.912T>A (p.Ala304=)
c.948T>A (p.Ala316=)
c.924T>A (p.Ala308=)
13g.108210358G>ACA7043780LIG4c.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
13g.108210358G>CCA388619313LIG4c.710C>G (p.Ala237Gly)
c.911C>G (p.Ala304Gly)
c.947C>G (p.Ala316Gly)
c.923C>G (p.Ala308Gly)
13g.108210358G=CA2117794603LIG4c.710C= (p.Ala237=)
c.911C= (p.Ala304=)
c.947C= (p.Ala316=)
c.923C= (p.Ala308=)
13g.108210358G>TCA388619314LIG4c.710C>A (p.Ala237Asp)
c.911C>A (p.Ala304Asp)
c.947C>A (p.Ala316Asp)
c.923C>A (p.Ala308Asp)
13g.108210359C>ACA388619317LIG4c.709G>T (p.Ala237Ser)
c.910G>T (p.Ala304Ser)
c.946G>T (p.Ala316Ser)
c.922G>T (p.Ala308Ser)
 dbSNP
13g.108210359C=CA2117794604LIG4c.709G= (p.Ala237=)
c.910G= (p.Ala304=)
c.946G= (p.Ala316=)
c.922G= (p.Ala308=)
13g.108210359C>GCA388619315LIG4c.709G>C (p.Ala237Pro)
c.910G>C (p.Ala304Pro)
c.946G>C (p.Ala316Pro)
c.922G>C (p.Ala308Pro)
 gnomAD v4
13g.108210359C>TCA388619316LIG4c.709G>A (p.Ala237Thr)
c.910G>A (p.Ala304Thr)
c.946G>A (p.Ala316Thr)
c.922G>A (p.Ala308Thr)
13g.108210360A>CCA484975681LIG4c.708T>G (p.Gly236=)
c.909T>G (p.Gly303=)
c.945T>G (p.Gly315=)
c.921T>G (p.Gly307=)
 gnomAD v4
13g.108210360A>GCA484975682LIG4c.708T>C (p.Gly236=)
c.909T>C (p.Gly303=)
c.945T>C (p.Gly315=)
c.921T>C (p.Gly307=)
 gnomAD v4
13g.108210360A>TCA484975683LIG4c.708T>A (p.Gly236=)
c.909T>A (p.Gly303=)
c.945T>A (p.Gly315=)
c.921T>A (p.Gly307=)
13g.108210361C>ACA388619318LIG4c.707G>T (p.Gly236Val)
c.908G>T (p.Gly303Val)
c.944G>T (p.Gly315Val)
c.920G>T (p.Gly307Val)
13g.108210361C>GCA388619319LIG4c.707G>C (p.Gly236Ala)
c.908G>C (p.Gly303Ala)
c.944G>C (p.Gly315Ala)
c.920G>C (p.Gly307Ala)
13g.108210361C>TCA388619320LIG4c.707G>A (p.Gly236Asp)
c.908G>A (p.Gly303Asp)
c.944G>A (p.Gly315Asp)
c.920G>A (p.Gly307Asp)
13g.108210362C>ACA388619321LIG4c.706G>T (p.Gly236Cys)
c.907G>T (p.Gly303Cys)
c.943G>T (p.Gly315Cys)
c.919G>T (p.Gly307Cys)
13g.108210362C=CA2117794606LIG4c.706G= (p.Gly236=)
c.907G= (p.Gly303=)
c.943G= (p.Gly315=)
c.919G= (p.Gly307=)
13g.108210362C>GCA388619322LIG4c.706G>C (p.Gly236Arg)
c.907G>C (p.Gly303Arg)
c.943G>C (p.Gly315Arg)
c.919G>C (p.Gly307Arg)
 ClinVar dbSNP
13g.108210362C>TCA388619323LIG4c.706G>A (p.Gly236Ser)
c.907G>A (p.Gly303Ser)
c.943G>A (p.Gly315Ser)
c.919G>A (p.Gly307Ser)
13g.108210362_108210363delinsCACA2117794605LIG4c.705_706delinsTG (p.Phe235=)
c.906_907delinsTG (p.Phe302=)
c.942_943delinsTG (p.Phe314=)
c.918_919delinsTG (p.Phe306=)
13g.108210363A>CCA388619324LIG4c.705T>G (p.Phe235Leu)
c.906T>G (p.Phe302Leu)
c.942T>G (p.Phe314Leu)
c.918T>G (p.Phe306Leu)
 gnomAD v4
13g.108210363A>GCA484975688LIG4c.705T>C (p.Phe235=)
c.906T>C (p.Phe302=)
c.942T>C (p.Phe314=)
c.918T>C (p.Phe306=)
 ClinVar gnomAD v4
13g.108210363A>TCA388619325LIG4c.705T>A (p.Phe235Leu)
c.906T>A (p.Phe302Leu)
c.942T>A (p.Phe314Leu)
c.918T>A (p.Phe306Leu)
13g.108210365delCA7043781LIG4c.705del (p.Phe235LeufsTer?)
c.906del (p.Phe302LeufsTer?)
c.942del (p.Phe314LeufsTer?)
c.918del (p.Phe306LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108210364A>CCA388619326LIG4c.704T>G (p.Phe235Cys)
c.905T>G (p.Phe302Cys)
c.941T>G (p.Phe314Cys)
c.917T>G (p.Phe306Cys)
13g.108210364A>GCA388619327LIG4c.704T>C (p.Phe235Ser)
c.905T>C (p.Phe302Ser)
c.941T>C (p.Phe314Ser)
c.917T>C (p.Phe306Ser)
13g.108210364A>TCA388619328LIG4c.704T>A (p.Phe235Tyr)
c.905T>A (p.Phe302Tyr)
c.941T>A (p.Phe314Tyr)
c.917T>A (p.Phe306Tyr)
13g.108210365A>CCA388619331LIG4c.703T>G (p.Phe235Val)
c.904T>G (p.Phe302Val)
c.940T>G (p.Phe314Val)
c.916T>G (p.Phe306Val)
13g.108210365A>GCA388619329LIG4c.703T>C (p.Phe235Leu)
c.904T>C (p.Phe302Leu)
c.940T>C (p.Phe314Leu)
c.916T>C (p.Phe306Leu)
13g.108210365A>TCA388619330LIG4c.703T>A (p.Phe235Ile)
c.904T>A (p.Phe302Ile)
c.940T>A (p.Phe314Ile)
c.916T>A (p.Phe306Ile)
13g.108210366C>ACA388619332LIG4c.702G>T (p.Gln234His)
c.903G>T (p.Gln301His)
c.939G>T (p.Gln313His)
c.915G>T (p.Gln305His)
13g.108210366C>GCA388619334LIG4c.702G>C (p.Gln234His)
c.903G>C (p.Gln301His)
c.939G>C (p.Gln313His)
c.915G>C (p.Gln305His)
13g.108210366C>TCA484975697LIG4c.702G>A (p.Gln234=)
c.903G>A (p.Gln301=)
c.939G>A (p.Gln313=)
c.915G>A (p.Gln305=)
13g.108210367T>ACA388619336LIG4c.701A>T (p.Gln234Leu)
c.902A>T (p.Gln301Leu)
c.938A>T (p.Gln313Leu)
c.914A>T (p.Gln305Leu)
13g.108210367T>CCA7043782LIG4c.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
13g.108210367T>GCA388619340LIG4c.701A>C (p.Gln234Pro)
c.902A>C (p.Gln301Pro)
c.938A>C (p.Gln313Pro)
c.914A>C (p.Gln305Pro)
13g.108210367T=CA2117794607LIG4c.701A= (p.Gln234=)
c.902A= (p.Gln301=)
c.938A= (p.Gln313=)
c.914A= (p.Gln305=)
13g.108210368G>ACA256182147LIG4c.700C>T (p.Gln234Ter)
c.901C>T (p.Gln301Ter)
c.937C>T (p.Gln313Ter)
c.913C>T (p.Gln305Ter)
 dbSNP
13g.108210368G>CCA388619348LIG4c.700C>G (p.Gln234Glu)
c.901C>G (p.Gln301Glu)
c.937C>G (p.Gln313Glu)
c.913C>G (p.Gln305Glu)
 gnomAD v4
13g.108210368G=CA2117794608LIG4c.700C= (p.Gln234=)
c.901C= (p.Gln301=)
c.937C= (p.Gln313=)
c.913C= (p.Gln305=)
13g.108210368G>TCA388619350LIG4c.700C>A (p.Gln234Lys)
c.901C>A (p.Gln301Lys)
c.937C>A (p.Gln313Lys)
c.913C>A (p.Gln305Lys)
 gnomAD v4
13g.108210369A>CCA388619354LIG4c.699T>G (p.Asp233Glu)
c.900T>G (p.Asp300Glu)
c.936T>G (p.Asp312Glu)
c.912T>G (p.Asp304Glu)
13g.108210369A>GCA484975707LIG4c.699T>C (p.Asp233=)
c.900T>C (p.Asp300=)
c.936T>C (p.Asp312=)
c.912T>C (p.Asp304=)
13g.108210369A>TCA388619355LIG4c.699T>A (p.Asp233Glu)
c.900T>A (p.Asp300Glu)
c.936T>A (p.Asp312Glu)
c.912T>A (p.Asp304Glu)
13g.108210370T>ACA388619356LIG4c.698A>T (p.Asp233Val)
c.899A>T (p.Asp300Val)
c.935A>T (p.Asp312Val)
c.911A>T (p.Asp304Val)
13g.108210370T>CCA388619357LIG4c.698A>G (p.Asp233Gly)
c.899A>G (p.Asp300Gly)
c.935A>G (p.Asp312Gly)
c.911A>G (p.Asp304Gly)
 gnomAD v4
13g.108210370T>GCA388619359LIG4c.698A>C (p.Asp233Ala)
c.899A>C (p.Asp300Ala)
c.935A>C (p.Asp312Ala)
c.911A>C (p.Asp304Ala)
13g.108210371C>ACA388619363LIG4c.697G>T (p.Asp233Tyr)
c.898G>T (p.Asp300Tyr)
c.934G>T (p.Asp312Tyr)
c.910G>T (p.Asp304Tyr)
13g.108210371C=CA2117794609LIG4c.697G= (p.Asp233=)
c.898G= (p.Asp300=)
c.934G= (p.Asp312=)
c.910G= (p.Asp304=)
13g.108210371C>GCA388619361LIG4c.697G>C (p.Asp233His)
c.898G>C (p.Asp300His)
c.934G>C (p.Asp312His)
c.910G>C (p.Asp304His)
13g.108210371C>TCA7043783LIG4c.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
13g.108210372A>CCA484975950LIG4c.696T>G (p.Thr232=)
c.897T>G (p.Thr299=)
c.933T>G (p.Thr311=)
c.909T>G (p.Thr303=)
 ClinVar dbSNP gnomAD v4
13g.108210372A>GCA484975953LIG4c.696T>C (p.Thr232=)
c.897T>C (p.Thr299=)
c.933T>C (p.Thr311=)
c.909T>C (p.Thr303=)
13g.108210372A>TCA484975957LIG4c.696T>A (p.Thr232=)
c.897T>A (p.Thr299=)
c.933T>A (p.Thr311=)
c.909T>A (p.Thr303=)
 gnomAD v4
13g.108210373G>ACA388619364LIG4c.695C>T (p.Thr232Ile)
c.896C>T (p.Thr299Ile)
c.932C>T (p.Thr311Ile)
c.908C>T (p.Thr303Ile)
13g.108210373G>CCA388619365LIG4c.695C>G (p.Thr232Ser)
c.896C>G (p.Thr299Ser)
c.932C>G (p.Thr311Ser)
c.908C>G (p.Thr303Ser)
13g.108210373G>TCA388619367LIG4c.695C>A (p.Thr232Asn)
c.896C>A (p.Thr299Asn)
c.932C>A (p.Thr311Asn)
c.908C>A (p.Thr303Asn)
13g.108210374T>ACA388619369LIG4c.694A>T (p.Thr232Ser)
c.895A>T (p.Thr299Ser)
c.931A>T (p.Thr311Ser)
c.907A>T (p.Thr303Ser)
13g.108210374T>CCA388619371LIG4c.694A>G (p.Thr232Ala)
c.895A>G (p.Thr299Ala)
c.931A>G (p.Thr311Ala)
c.907A>G (p.Thr303Ala)
 ClinVar
13g.108210374T>GCA388619373LIG4c.694A>C (p.Thr232Pro)
c.895A>C (p.Thr299Pro)
c.931A>C (p.Thr311Pro)
c.907A>C (p.Thr303Pro)
13g.108210375G>ACA484975961LIG4c.693C>T (p.Tyr231=)
c.894C>T (p.Tyr298=)
c.930C>T (p.Tyr310=)
c.906C>T (p.Tyr302=)
 ClinVar gnomAD v4
13g.108210375G>CCA388619374LIG4c.693C>G (p.Tyr231Ter)
c.894C>G (p.Tyr298Ter)
c.930C>G (p.Tyr310Ter)
c.906C>G (p.Tyr302Ter)
13g.108210375G>TCA388619375LIG4c.693C>A (p.Tyr231Ter)
c.894C>A (p.Tyr298Ter)
c.930C>A (p.Tyr310Ter)
c.906C>A (p.Tyr302Ter)
13g.108210376T>ACA388619380LIG4c.692A>T (p.Tyr231Phe)
c.893A>T (p.Tyr298Phe)
c.929A>T (p.Tyr310Phe)
c.905A>T (p.Tyr302Phe)
13g.108210376T>CCA388619381LIG4c.692A>G (p.Tyr231Cys)
c.893A>G (p.Tyr298Cys)
c.929A>G (p.Tyr310Cys)
c.905A>G (p.Tyr302Cys)
13g.108210376T>GCA388619383LIG4c.692A>C (p.Tyr231Ser)
c.893A>C (p.Tyr298Ser)
c.929A>C (p.Tyr310Ser)
c.905A>C (p.Tyr302Ser)
13g.108210377A=CA2117794610LIG4c.691T= (p.Tyr231=)
c.892T= (p.Tyr298=)
c.928T= (p.Tyr310=)
c.904T= (p.Tyr302=)
13g.108210377A>CCA388619384LIG4c.691T>G (p.Tyr231Asp)
c.892T>G (p.Tyr298Asp)
c.928T>G (p.Tyr310Asp)
c.904T>G (p.Tyr302Asp)
13g.108210377A>GCA388619387LIG4c.691T>C (p.Tyr231His)
c.892T>C (p.Tyr298His)
c.928T>C (p.Tyr310His)
c.904T>C (p.Tyr302His)
 ClinVar dbSNP gnomAD v4
13g.108210377A>TCA388619386LIG4c.691T>A (p.Tyr231Asn)
c.892T>A (p.Tyr298Asn)
c.928T>A (p.Tyr310Asn)
c.904T>A (p.Tyr302Asn)
13g.108210378G>ACA484975975LIG4c.690C>T (p.Asn230=)
c.891C>T (p.Asn297=)
c.927C>T (p.Asn309=)
c.903C>T (p.Asn301=)
 dbSNP
13g.108210378G>CCA388619388LIG4c.690C>G (p.Asn230Lys)
c.891C>G (p.Asn297Lys)
c.927C>G (p.Asn309Lys)
c.903C>G (p.Asn301Lys)
 gnomAD v4
13g.108210378G=CA2117794611LIG4c.690C= (p.Asn230=)
c.891C= (p.Asn297=)
c.927C= (p.Asn309=)
c.903C= (p.Asn301=)
13g.108210378G>TCA388619389LIG4c.690C>A (p.Asn230Lys)
c.891C>A (p.Asn297Lys)
c.927C>A (p.Asn309Lys)
c.903C>A (p.Asn301Lys)
13g.108210379T>ACA388619390LIG4c.689A>T (p.Asn230Ile)
c.890A>T (p.Asn297Ile)
c.926A>T (p.Asn309Ile)
c.902A>T (p.Asn301Ile)
13g.108210379T>CCA388619392LIG4c.689A>G (p.Asn230Ser)
c.890A>G (p.Asn297Ser)
c.926A>G (p.Asn309Ser)
c.902A>G (p.Asn301Ser)
 gnomAD v4
13g.108210379T>GCA388619394LIG4c.689A>C (p.Asn230Thr)
c.890A>C (p.Asn297Thr)
c.926A>C (p.Asn309Thr)
c.902A>C (p.Asn301Thr)
13g.108210380T>ACA388619395LIG4c.688A>T (p.Asn230Tyr)
c.889A>T (p.Asn297Tyr)
c.925A>T (p.Asn309Tyr)
c.901A>T (p.Asn301Tyr)
13g.108210380T>CCA388619397LIG4c.688A>G (p.Asn230Asp)
c.889A>G (p.Asn297Asp)
c.925A>G (p.Asn309Asp)
c.901A>G (p.Asn301Asp)
 ClinVar gnomAD v4
13g.108210380T>GCA388619399LIG4c.688A>C (p.Asn230His)
c.889A>C (p.Asn297His)
c.925A>C (p.Asn309His)
c.901A>C (p.Asn301His)
13g.108210381A>CCA388619401LIG4c.687T>G (p.Tyr229Ter)
c.888T>G (p.Tyr296Ter)
c.924T>G (p.Tyr308Ter)
c.900T>G (p.Tyr300Ter)
13g.108210381A>GCA484975980LIG4c.687T>C (p.Tyr229=)
c.888T>C (p.Tyr296=)
c.924T>C (p.Tyr308=)
c.900T>C (p.Tyr300=)
 gnomAD v4
13g.108210381A>TCA388619402LIG4c.687T>A (p.Tyr229Ter)
c.888T>A (p.Tyr296Ter)
c.924T>A (p.Tyr308Ter)
c.900T>A (p.Tyr300Ter)
13g.108210382T>ACA388619404LIG4c.686A>T (p.Tyr229Phe)
c.887A>T (p.Tyr296Phe)
c.923A>T (p.Tyr308Phe)
c.899A>T (p.Tyr300Phe)
13g.108210382T>CCA388619407LIG4c.686A>G (p.Tyr229Cys)
c.887A>G (p.Tyr296Cys)
c.923A>G (p.Tyr308Cys)
c.899A>G (p.Tyr300Cys)
 gnomAD v4
13g.108210382T>GCA388619410LIG4c.686A>C (p.Tyr229Ser)
c.887A>C (p.Tyr296Ser)
c.923A>C (p.Tyr308Ser)
c.899A>C (p.Tyr300Ser)
13g.108210383A>CCA388619419LIG4c.685T>G (p.Tyr229Asp)
c.886T>G (p.Tyr296Asp)
c.922T>G (p.Tyr308Asp)
c.898T>G (p.Tyr300Asp)
13g.108210383A>GCA388619415LIG4c.685T>C (p.Tyr229His)
c.886T>C (p.Tyr296His)
c.922T>C (p.Tyr308His)
c.898T>C (p.Tyr300His)
13g.108210383A>TCA388619417LIG4c.685T>A (p.Tyr229Asn)
c.886T>A (p.Tyr296Asn)
c.922T>A (p.Tyr308Asn)
c.898T>A (p.Tyr300Asn)
13g.108210384T>ACA484975986LIG4c.684A>T (p.Gly228=)
c.885A>T (p.Gly295=)
c.921A>T (p.Gly307=)
c.897A>T (p.Gly299=)
13g.108210384T>CCA7043784LIG4c.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
13g.108210384T>GCA484975987LIG4c.684A>C (p.Gly228=)
c.885A>C (p.Gly295=)
c.921A>C (p.Gly307=)
c.897A>C (p.Gly299=)
13g.108210384T=CA2117794612LIG4c.684A= (p.Gly228=)
c.885A= (p.Gly295=)
c.921A= (p.Gly307=)
c.897A= (p.Gly299=)
13g.108210385C>ACA388619424LIG4c.683G>T (p.Gly228Val)
c.884G>T (p.Gly295Val)
c.920G>T (p.Gly307Val)
c.896G>T (p.Gly299Val)
 dbSNP
13g.108210385C=CA2117794614LIG4c.683G= (p.Gly228=)
c.884G= (p.Gly295=)
c.920G= (p.Gly307=)
c.896G= (p.Gly299=)
13g.108210385C>GCA388619427LIG4c.683G>C (p.Gly228Ala)
c.884G>C (p.Gly295Ala)
c.920G>C (p.Gly307Ala)
c.896G>C (p.Gly299Ala)
13g.108210385C>TCA388619436LIG4c.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
13g.108210385_108210390delinsCCATTTCA2117794613LIG4c.678_683delinsAAATGG (p.Arg226=)
c.879_884delinsAAATGG (p.Arg293=)
c.915_920delinsAAATGG (p.Arg305=)
c.891_896delinsAAATGG (p.Arg297=)
13g.108210386C>ACA388619439LIG4c.682G>T (p.Gly228Ter)
c.883G>T (p.Gly295Ter)
c.919G>T (p.Gly307Ter)
c.895G>T (p.Gly299Ter)
13g.108210386C=CA2117794615LIG4c.682G= (p.Gly228=)
c.883G= (p.Gly295=)
c.919G= (p.Gly307=)
c.895G= (p.Gly299=)
13g.108210386C>GCA388619440LIG4c.682G>C (p.Gly228Arg)
c.883G>C (p.Gly295Arg)
c.919G>C (p.Gly307Arg)
c.895G>C (p.Gly299Arg)
13g.108210386C>TCA7043786LIG4c.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
13g.108210387_108210391delCA7043785LIG4c.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
13g.108210387A>CCA388619448LIG4c.681T>G (p.Asn227Lys)
c.882T>G (p.Asn294Lys)
c.918T>G (p.Asn306Lys)
c.894T>G (p.Asn298Lys)
13g.108210387A>GCA484975992LIG4c.681T>C (p.Asn227=)
c.882T>C (p.Asn294=)
c.918T>C (p.Asn306=)
c.894T>C (p.Asn298=)
13g.108210387A>TCA388619450LIG4c.681T>A (p.Asn227Lys)
c.882T>A (p.Asn294Lys)
c.918T>A (p.Asn306Lys)
c.894T>A (p.Asn298Lys)
13g.108210388T>ACA388619459LIG4c.680A>T (p.Asn227Ile)
c.881A>T (p.Asn294Ile)
c.917A>T (p.Asn306Ile)
c.893A>T (p.Asn298Ile)
13g.108210388T>CCA388619461LIG4c.680A>G (p.Asn227Ser)
c.881A>G (p.Asn294Ser)
c.917A>G (p.Asn306Ser)
c.893A>G (p.Asn298Ser)
 dbSNP gnomAD v4
13g.108210388T>GCA388619454LIG4c.680A>C (p.Asn227Thr)
c.881A>C (p.Asn294Thr)
c.917A>C (p.Asn306Thr)
c.893A>C (p.Asn298Thr)
13g.108210388T=CA2117794616LIG4c.680A= (p.Asn227=)
c.881A= (p.Asn294=)
c.917A= (p.Asn306=)
c.893A= (p.Asn298=)
13g.108210389T>ACA388619469LIG4c.679A>T (p.Asn227Tyr)
c.880A>T (p.Asn294Tyr)
c.916A>T (p.Asn306Tyr)
c.892A>T (p.Asn298Tyr)
13g.108210389T>CCA388619470LIG4c.679A>G (p.Asn227Asp)
c.880A>G (p.Asn294Asp)
c.916A>G (p.Asn306Asp)
c.892A>G (p.Asn298Asp)
13g.108210389T>GCA388619475LIG4c.679A>C (p.Asn227His)
c.880A>C (p.Asn294His)
c.916A>C (p.Asn306His)
c.892A>C (p.Asn298His)
13g.108210390T>ACA484975996LIG4c.678A>T (p.Arg226=)
c.879A>T (p.Arg293=)
c.915A>T (p.Arg305=)
c.891A>T (p.Arg297=)
13g.108210390T>CCA484975999LIG4c.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
13g.108210390T>GCA484976000LIG4c.678A>C (p.Arg226=)
c.879A>C (p.Arg293=)
c.915A>C (p.Arg305=)
c.891A>C (p.Arg297=)
 dbSNP gnomAD v4
13g.108210390T=CA2117794617LIG4c.678A= (p.Arg226=)
c.879A= (p.Arg293=)
c.915A= (p.Arg305=)
c.891A= (p.Arg297=)
13g.108210391C>ACA388619479LIG4c.677G>T (p.Arg226Leu)
c.878G>T (p.Arg293Leu)
c.914G>T (p.Arg305Leu)
c.890G>T (p.Arg297Leu)
13g.108210391C=CA2117794618LIG4c.677G= (p.Arg226=)
c.878G= (p.Arg293=)
c.914G= (p.Arg305=)
c.890G= (p.Arg297=)
13g.108210391C>GCA388619485LIG4c.677G>C (p.Arg226Pro)
c.878G>C (p.Arg293Pro)
c.914G>C (p.Arg305Pro)
c.890G>C (p.Arg297Pro)
13g.108210391C>TCA7043787LIG4c.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
13g.108210392G>ACA256182179LIG4c.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
13g.108210392G>CCA388619489LIG4c.676C>G (p.Arg226Gly)
c.877C>G (p.Arg293Gly)
c.913C>G (p.Arg305Gly)
c.889C>G (p.Arg297Gly)
13g.108210392G=CA2117794619LIG4c.676C= (p.Arg226=)
c.877C= (p.Arg293=)
c.913C= (p.Arg305=)
c.889C= (p.Arg297=)
13g.108210392G>TCA484976004LIG4c.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
13g.108210393A=CA2117794620LIG4c.675T= (p.Ser225=)
c.876T= (p.Ser292=)
c.912T= (p.Ser304=)
c.888T= (p.Ser296=)
13g.108210393A>CCA484976008LIG4c.675T>G (p.Ser225=)
c.876T>G (p.Ser292=)
c.912T>G (p.Ser304=)
c.888T>G (p.Ser296=)
13g.108210393A>GCA256182184LIG4c.675T>C (p.Ser225=)
c.876T>C (p.Ser292=)
c.912T>C (p.Ser304=)
c.888T>C (p.Ser296=)
 dbSNP
13g.108210393A>TCA484976006LIG4c.675T>A (p.Ser225=)
c.876T>A (p.Ser292=)
c.912T>A (p.Ser304=)
c.888T>A (p.Ser296=)
 gnomAD v4
13g.108210394G>ACA388619494LIG4c.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
13g.108210394G>CCA388619496LIG4c.674C>G (p.Ser225Cys)
c.875C>G (p.Ser292Cys)
c.911C>G (p.Ser304Cys)
c.887C>G (p.Ser296Cys)
13g.108210394G=CA2117794621LIG4c.674C= (p.Ser225=)
c.875C= (p.Ser292=)
c.911C= (p.Ser304=)
c.887C= (p.Ser296=)
13g.108210394G>TCA388619497LIG4c.674C>A (p.Ser225Tyr)
c.875C>A (p.Ser292Tyr)
c.911C>A (p.Ser304Tyr)
c.887C>A (p.Ser296Tyr)
13g.108210395A>CCA388619509LIG4c.673T>G (p.Ser225Ala)
c.874T>G (p.Ser292Ala)
c.910T>G (p.Ser304Ala)
c.886T>G (p.Ser296Ala)
13g.108210395A>GCA388619505LIG4c.673T>C (p.Ser225Pro)
c.874T>C (p.Ser292Pro)
c.910T>C (p.Ser304Pro)
c.886T>C (p.Ser296Pro)
13g.108210395A>TCA388619507LIG4c.673T>A (p.Ser225Thr)
c.874T>A (p.Ser292Thr)
c.910T>A (p.Ser304Thr)
c.886T>A (p.Ser296Thr)
13g.108210396G>ACA484976011LIG4c.672C>T (p.Phe224=)
c.873C>T (p.Phe291=)
c.909C>T (p.Phe303=)
c.885C>T (p.Phe295=)
13g.108210396G>CCA388619511LIG4c.672C>G (p.Phe224Leu)
c.873C>G (p.Phe291Leu)
c.909C>G (p.Phe303Leu)
c.885C>G (p.Phe295Leu)
13g.108210396G>TCA388619517LIG4c.672C>A (p.Phe224Leu)
c.873C>A (p.Phe291Leu)
c.909C>A (p.Phe303Leu)
c.885C>A (p.Phe295Leu)
 COSMIC
13g.108210397A>CCA388619520LIG4c.671T>G (p.Phe224Cys)
c.872T>G (p.Phe291Cys)
c.908T>G (p.Phe303Cys)
c.884T>G (p.Phe295Cys)
13g.108210397A>GCA388619521LIG4c.671T>C (p.Phe224Ser)
c.872T>C (p.Phe291Ser)
c.908T>C (p.Phe303Ser)
c.884T>C (p.Phe295Ser)
13g.108210397A>TCA388619523LIG4c.671T>A (p.Phe224Tyr)
c.872T>A (p.Phe291Tyr)
c.908T>A (p.Phe303Tyr)
c.884T>A (p.Phe295Tyr)
13g.108210398A>CCA388619526LIG4c.670T>G (p.Phe224Val)
c.871T>G (p.Phe291Val)
c.907T>G (p.Phe303Val)
c.883T>G (p.Phe295Val)
13g.108210398A>GCA388619528LIG4c.670T>C (p.Phe224Leu)
c.871T>C (p.Phe291Leu)
c.907T>C (p.Phe303Leu)
c.883T>C (p.Phe295Leu)
13g.108210398A>TCA388619531LIG4c.670T>A (p.Phe224Ile)
c.871T>A (p.Phe291Ile)
c.907T>A (p.Phe303Ile)
c.883T>A (p.Phe295Ile)
13g.108210399G>ACA484976020LIG4c.669C>T (p.Tyr223=)
c.870C>T (p.Tyr290=)
c.906C>T (p.Tyr302=)
c.882C>T (p.Tyr294=)
13g.108210399G>CCA388619533LIG4c.669C>G (p.Tyr223Ter)
c.870C>G (p.Tyr290Ter)
c.906C>G (p.Tyr302Ter)
c.882C>G (p.Tyr294Ter)
13g.108210399G>TCA388619537LIG4c.669C>A (p.Tyr223Ter)
c.870C>A (p.Tyr290Ter)
c.906C>A (p.Tyr302Ter)
c.882C>A (p.Tyr294Ter)
13g.108210400T>ACA7043788LIG4c.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
13g.108210400T>CCA388619542LIG4c.668A>G (p.Tyr223Cys)
c.869A>G (p.Tyr290Cys)
c.905A>G (p.Tyr302Cys)
c.881A>G (p.Tyr294Cys)
13g.108210400T>GCA388619544LIG4c.668A>C (p.Tyr223Ser)
c.869A>C (p.Tyr290Ser)
c.905A>C (p.Tyr302Ser)
c.881A>C (p.Tyr294Ser)
13g.108210400T=CA2117794622LIG4c.668A= (p.Tyr223=)
c.869A= (p.Tyr290=)
c.905A= (p.Tyr302=)
c.881A= (p.Tyr294=)
13g.108210401A=CA2117794623LIG4c.667T= (p.Tyr223=)
c.868T= (p.Tyr290=)
c.904T= (p.Tyr302=)
c.880T= (p.Tyr294=)
13g.108210401A>CCA388619556LIG4c.667T>G (p.Tyr223Asp)
c.868T>G (p.Tyr290Asp)
c.904T>G (p.Tyr302Asp)
c.880T>G (p.Tyr294Asp)
13g.108210401A>GCA388619558LIG4c.667T>C (p.Tyr223His)
c.868T>C (p.Tyr290His)
c.904T>C (p.Tyr302His)
c.880T>C (p.Tyr294His)
 dbSNP gnomAD v2
13g.108210401A>TCA388619554LIG4c.667T>A (p.Tyr223Asn)
c.868T>A (p.Tyr290Asn)
c.904T>A (p.Tyr302Asn)
c.880T>A (p.Tyr294Asn)
 dbSNP gnomAD v3 gnomAD v4
13g.108210402T>ACA388619562LIG4c.666A>T (p.Lys222Asn)
c.867A>T (p.Lys289Asn)
c.903A>T (p.Lys301Asn)
c.879A>T (p.Lys293Asn)
13g.108210402T>CCA484976027LIG4c.666A>G (p.Lys222=)
c.867A>G (p.Lys289=)
c.903A>G (p.Lys301=)
c.879A>G (p.Lys293=)
13g.108210402T>GCA388619561LIG4c.666A>C (p.Lys222Asn)
c.867A>C (p.Lys289Asn)
c.903A>C (p.Lys301Asn)
c.879A>C (p.Lys293Asn)
13g.108210403T>ACA388619566LIG4c.665A>T (p.Lys222Ile)
c.866A>T (p.Lys289Ile)
c.902A>T (p.Lys301Ile)
c.878A>T (p.Lys293Ile)
13g.108210403T>CCA388619569LIG4c.665A>G (p.Lys222Arg)
c.866A>G (p.Lys289Arg)
c.902A>G (p.Lys301Arg)
c.878A>G (p.Lys293Arg)
13g.108210403T>GCA388619572LIG4c.665A>C (p.Lys222Thr)
c.866A>C (p.Lys289Thr)
c.902A>C (p.Lys301Thr)
c.878A>C (p.Lys293Thr)
13g.108210404T>ACA388619575LIG4c.664A>T (p.Lys222Ter)
c.865A>T (p.Lys289Ter)
c.901A>T (p.Lys301Ter)
c.877A>T (p.Lys293Ter)
13g.108210404T>CCA388619577LIG4c.664A>G (p.Lys222Glu)
c.865A>G (p.Lys289Glu)
c.901A>G (p.Lys301Glu)
c.877A>G (p.Lys293Glu)
13g.108210404T>GCA388619578LIG4c.664A>C (p.Lys222Gln)
c.865A>C (p.Lys289Gln)
c.901A>C (p.Lys301Gln)
c.877A>C (p.Lys293Gln)
13g.108210406_108210409delCA2800532441LIG4c.661_664del (p.Tyr221AsnfsTer?)
c.862_865del (p.Tyr288AsnfsTer?)
c.898_901del (p.Tyr300AsnfsTer?)
c.874_877del (p.Tyr292AsnfsTer?)
13g.108210405A=CA2117794624LIG4c.663T= (p.Tyr221=)
c.864T= (p.Tyr288=)
c.900T= (p.Tyr300=)
c.876T= (p.Tyr292=)
13g.108210405A>CCA388619580LIG4c.663T>G (p.Tyr221Ter)
c.864T>G (p.Tyr288Ter)
c.900T>G (p.Tyr300Ter)
c.876T>G (p.Tyr292Ter)
13g.108210405A>GCA206386LIG4c.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
13g.108210405A>TCA388619583LIG4c.663T>A (p.Tyr221Ter)
c.864T>A (p.Tyr288Ter)
c.900T>A (p.Tyr300Ter)
c.876T>A (p.Tyr292Ter)
13g.108210406T>ACA388619584LIG4c.662A>T (p.Tyr221Phe)
c.863A>T (p.Tyr288Phe)
c.899A>T (p.Tyr300Phe)
c.875A>T (p.Tyr292Phe)
13g.108210406T>CCA388619588LIG4c.662A>G (p.Tyr221Cys)
c.863A>G (p.Tyr288Cys)
c.899A>G (p.Tyr300Cys)
c.875A>G (p.Tyr292Cys)
 dbSNP gnomAD v3 gnomAD v4
13g.108210406T>GCA388619589LIG4c.662A>C (p.Tyr221Ser)
c.863A>C (p.Tyr288Ser)
c.899A>C (p.Tyr300Ser)
c.875A>C (p.Tyr292Ser)
13g.108210406T=CA2117794625LIG4c.662A= (p.Tyr221=)
c.863A= (p.Tyr288=)
c.899A= (p.Tyr300=)
c.875A= (p.Tyr292=)
13g.108210407A=CA2117794626LIG4c.661T= (p.Tyr221=)
c.862T= (p.Tyr288=)
c.898T= (p.Tyr300=)
c.874T= (p.Tyr292=)
13g.108210407A>CCA388619591LIG4c.661T>G (p.Tyr221Asp)
c.862T>G (p.Tyr288Asp)
c.898T>G (p.Tyr300Asp)
c.874T>G (p.Tyr292Asp)
13g.108210407A>GCA388619593LIG4c.661T>C (p.Tyr221His)
c.862T>C (p.Tyr288His)
c.898T>C (p.Tyr300His)
c.874T>C (p.Tyr292His)
 ClinVar dbSNP
13g.108210407A>TCA388619592LIG4c.661T>A (p.Tyr221Asn)
c.862T>A (p.Tyr288Asn)
c.898T>A (p.Tyr300Asn)
c.874T>A (p.Tyr292Asn)
13g.108210408T>ACA484976034LIG4c.660A>T (p.Val220=)
c.861A>T (p.Val287=)
c.897A>T (p.Val299=)
c.873A>T (p.Val291=)
13g.108210408T>CCA484976036LIG4c.660A>G (p.Val220=)
c.861A>G (p.Val287=)
c.897A>G (p.Val299=)
c.873A>G (p.Val291=)
 ClinVar gnomAD v4
13g.108210408T>GCA484976038LIG4c.660A>C (p.Val220=)
c.861A>C (p.Val287=)
c.897A>C (p.Val299=)
c.873A>C (p.Val291=)
13g.108210409A=CA2117794627LIG4c.659T= (p.Val220=)
c.860T= (p.Val287=)
c.896T= (p.Val299=)
c.872T= (p.Val291=)
13g.108210409A>CCA388619594LIG4c.659T>G (p.Val220Gly)
c.860T>G (p.Val287Gly)
c.896T>G (p.Val299Gly)
c.872T>G (p.Val291Gly)
13g.108210409A>GCA388619595LIG4c.659T>C (p.Val220Ala)
c.860T>C (p.Val287Ala)
c.896T>C (p.Val299Ala)
c.872T>C (p.Val291Ala)
 dbSNP gnomAD v2 gnomAD v4
13g.108210409A>TCA388619596LIG4c.659T>A (p.Val220Glu)
c.860T>A (p.Val287Glu)
c.896T>A (p.Val299Glu)
c.872T>A (p.Val291Glu)
13g.108210410C>ACA388619597LIG4c.658G>T (p.Val220Leu)
c.859G>T (p.Val287Leu)
c.895G>T (p.Val299Leu)
c.871G>T (p.Val291Leu)
13g.108210410C=CA2117794628LIG4c.658G= (p.Val220=)
c.859G= (p.Val287=)
c.895G= (p.Val299=)
c.871G= (p.Val291=)
13g.108210410C>GCA388619598LIG4c.658G>C (p.Val220Leu)
c.859G>C (p.Val287Leu)
c.895G>C (p.Val299Leu)
c.871G>C (p.Val291Leu)
13g.108210410C>TCA256182200LIG4c.658G>A (p.Val220Ile)
c.859G>A (p.Val287Ile)
c.895G>A (p.Val299Ile)
c.871G>A (p.Val291Ile)
 dbSNP gnomAD v2 gnomAD v4
13g.108210411A>CCA388619605LIG4c.657T>G (p.Asp219Glu)
c.858T>G (p.Asp286Glu)
c.894T>G (p.Asp298Glu)
c.870T>G (p.Asp290Glu)
13g.108210411A>GCA484976043LIG4c.657T>C (p.Asp219=)
c.858T>C (p.Asp286=)
c.894T>C (p.Asp298=)
c.870T>C (p.Asp290=)
13g.108210411A>TCA388619609LIG4c.657T>A (p.Asp219Glu)
c.858T>A (p.Asp286Glu)
c.894T>A (p.Asp298Glu)
c.870T>A (p.Asp290Glu)
13g.108210412T>ACA388619611LIG4c.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
13g.108210412T>CCA388619614LIG4c.656A>G (p.Asp219Gly)
c.857A>G (p.Asp286Gly)
c.893A>G (p.Asp298Gly)
c.869A>G (p.Asp290Gly)
13g.108210412T>GCA388619616LIG4c.656A>C (p.Asp219Ala)
c.857A>C (p.Asp286Ala)
c.893A>C (p.Asp298Ala)
c.869A>C (p.Asp290Ala)
13g.108210412T=CA2117794629LIG4c.656A= (p.Asp219=)
c.857A= (p.Asp286=)
c.893A= (p.Asp298=)
c.869A= (p.Asp290=)
13g.108210413C>ACA388619619LIG4c.655G>T (p.Asp219Tyr)
c.856G>T (p.Asp286Tyr)
c.892G>T (p.Asp298Tyr)
c.868G>T (p.Asp290Tyr)
13g.108210413C=CA2117794630LIG4c.655G= (p.Asp219=)
c.856G= (p.Asp286=)
c.892G= (p.Asp298=)
c.868G= (p.Asp290=)
13g.108210413C>GCA388619618LIG4c.655G>C (p.Asp219His)
c.856G>C (p.Asp286His)
c.892G>C (p.Asp298His)
c.868G>C (p.Asp290His)
13g.108210413C>TCA388619617LIG4c.655G>A (p.Asp219Asn)
c.856G>A (p.Asp286Asn)
c.892G>A (p.Asp298Asn)
c.868G>A (p.Asp290Asn)
 ClinVar dbSNP gnomAD v4
13g.108210414T>ACA484976048LIG4c.654A>T (p.Gly218=)
c.855A>T (p.Gly285=)
c.891A>T (p.Gly297=)
c.867A>T (p.Gly289=)
 gnomAD v4
13g.108210414T>CCA484976049LIG4c.654A>G (p.Gly218=)
c.855A>G (p.Gly285=)
c.891A>G (p.Gly297=)
c.867A>G (p.Gly289=)
 gnomAD v4
13g.108210414T>GCA484976050LIG4c.654A>C (p.Gly218=)
c.855A>C (p.Gly285=)
c.891A>C (p.Gly297=)
c.867A>C (p.Gly289=)
 gnomAD v4
13g.108210415C>ACA7043789LIG4c.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
13g.108210415C=CA2117794631LIG4c.653G= (p.Gly218=)
c.854G= (p.Gly285=)
c.890G= (p.Gly297=)
c.866G= (p.Gly289=)
13g.108210415C>GCA388619623LIG4c.653G>C (p.Gly218Ala)
c.854G>C (p.Gly285Ala)
c.890G>C (p.Gly297Ala)
c.866G>C (p.Gly289Ala)
13g.108210415C>TCA388619624LIG4c.653G>A (p.Gly218Glu)
c.854G>A (p.Gly285Glu)
c.890G>A (p.Gly297Glu)
c.866G>A (p.Gly289Glu)
13g.108210416C>ACA388619632LIG4c.652G>T (p.Gly218Ter)
c.853G>T (p.Gly285Ter)
c.889G>T (p.Gly297Ter)
c.865G>T (p.Gly289Ter)
13g.108210416C>GCA388619635LIG4c.652G>C (p.Gly218Arg)
c.853G>C (p.Gly285Arg)
c.889G>C (p.Gly297Arg)
c.865G>C (p.Gly289Arg)
13g.108210416C>TCA388619639LIG4c.652G>A (p.Gly218Arg)
c.853G>A (p.Gly285Arg)
c.889G>A (p.Gly297Arg)
c.865G>A (p.Gly289Arg)
13g.108210417A>CCA388619645LIG4c.651T>G (p.Asp217Glu)
c.852T>G (p.Asp284Glu)
c.888T>G (p.Asp296Glu)
c.864T>G (p.Asp288Glu)
13g.108210417A>GCA484976057LIG4c.651T>C (p.Asp217=)
c.852T>C (p.Asp284=)
c.888T>C (p.Asp296=)
c.864T>C (p.Asp288=)
13g.108210417A>TCA388619647LIG4c.651T>A (p.Asp217Glu)
c.852T>A (p.Asp284Glu)
c.888T>A (p.Asp296Glu)
c.864T>A (p.Asp288Glu)
13g.108210418T>ACA388619672LIG4c.650A>T (p.Asp217Val)
c.851A>T (p.Asp284Val)
c.887A>T (p.Asp296Val)
c.863A>T (p.Asp288Val)
 gnomAD v4
13g.108210418T>CCA388619676LIG4c.650A>G (p.Asp217Gly)
c.851A>G (p.Asp284Gly)
c.887A>G (p.Asp296Gly)
c.863A>G (p.Asp288Gly)
 dbSNP gnomAD v3 gnomAD v4
13g.108210418T>GCA388619680LIG4c.650A>C (p.Asp217Ala)
c.851A>C (p.Asp284Ala)
c.887A>C (p.Asp296Ala)
c.863A>C (p.Asp288Ala)
13g.108210418T=CA2117794632LIG4c.650A= (p.Asp217=)
c.851A= (p.Asp284=)
c.887A= (p.Asp296=)
c.863A= (p.Asp288=)
13g.108210419C>ACA388619683LIG4c.649G>T (p.Asp217Tyr)
c.850G>T (p.Asp284Tyr)
c.886G>T (p.Asp296Tyr)
c.862G>T (p.Asp288Tyr)
13g.108210419C>GCA388619688LIG4c.649G>C (p.Asp217His)
c.850G>C (p.Asp284His)
c.886G>C (p.Asp296His)
c.862G>C (p.Asp288His)
13g.108210419C>TCA388619689LIG4c.649G>A (p.Asp217Asn)
c.850G>A (p.Asp284Asn)
c.886G>A (p.Asp296Asn)
c.862G>A (p.Asp288Asn)
13g.108210420T>ACA388619691LIG4c.648A>T (p.Lys216Asn)
c.849A>T (p.Lys283Asn)
c.885A>T (p.Lys295Asn)
c.861A>T (p.Lys287Asn)
13g.108210420T>CCA484976059LIG4c.648A>G (p.Lys216=)
c.849A>G (p.Lys283=)
c.885A>G (p.Lys295=)
c.861A>G (p.Lys287=)
13g.108210420T>GCA388619690LIG4c.648A>C (p.Lys216Asn)
c.849A>C (p.Lys283Asn)
c.885A>C (p.Lys295Asn)
c.861A>C (p.Lys287Asn)
13g.108210421T>ACA388619695LIG4c.647A>T (p.Lys216Ile)
c.848A>T (p.Lys283Ile)
c.884A>T (p.Lys295Ile)
c.860A>T (p.Lys287Ile)
 dbSNP gnomAD v4
13g.108210421T>CCA388619696LIG4c.647A>G (p.Lys216Arg)
c.848A>G (p.Lys283Arg)
c.884A>G (p.Lys295Arg)
c.860A>G (p.Lys287Arg)
 dbSNP
13g.108210421T>GCA388619697LIG4c.647A>C (p.Lys216Thr)
c.848A>C (p.Lys283Thr)
c.884A>C (p.Lys295Thr)
c.860A>C (p.Lys287Thr)
13g.108210421T=CA2117794633LIG4c.647A= (p.Lys216=)
c.848A= (p.Lys283=)
c.884A= (p.Lys295=)
c.860A= (p.Lys287=)
13g.108210422T>ACA388619698LIG4c.646A>T (p.Lys216Ter)
c.847A>T (p.Lys283Ter)
c.883A>T (p.Lys295Ter)
c.859A>T (p.Lys287Ter)
13g.108210422T>CCA388619699LIG4c.646A>G (p.Lys216Glu)
c.847A>G (p.Lys283Glu)
c.883A>G (p.Lys295Glu)
c.859A>G (p.Lys287Glu)
 ClinVar dbSNP
13g.108210422T>GCA388619705LIG4c.646A>C (p.Lys216Gln)
c.847A>C (p.Lys283Gln)
c.883A>C (p.Lys295Gln)
c.859A>C (p.Lys287Gln)
13g.108210422T=CA2117794634LIG4c.646A= (p.Lys216=)
c.847A= (p.Lys283=)
c.883A= (p.Lys295=)
c.859A= (p.Lys287=)
13g.108210423G>ACA484976063LIG4c.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
13g.108210423G>CCA388619713LIG4c.645C>G (p.His215Gln)
c.846C>G (p.His282Gln)
c.882C>G (p.His294Gln)
c.858C>G (p.His286Gln)
 gnomAD v4
13g.108210423G=CA2117794635LIG4c.645C= (p.His215=)
c.846C= (p.His282=)
c.882C= (p.His294=)
c.858C= (p.His286=)
13g.108210423G>TCA388619717LIG4c.645C>A (p.His215Gln)
c.846C>A (p.His282Gln)
c.882C>A (p.His294Gln)
c.858C>A (p.His286Gln)
13g.108210424T>ACA7043790LIG4c.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
13g.108210424T>CCA388619757LIG4c.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
13g.108210424T>GCA388619759LIG4c.644A>C (p.His215Pro)
c.845A>C (p.His282Pro)
c.881A>C (p.His294Pro)
c.857A>C (p.His286Pro)
 COSMIC
13g.108210424T=CA2117794636LIG4c.644A= (p.His215=)
c.845A= (p.His282=)
c.881A= (p.His294=)
c.857A= (p.His286=)
13g.108210425G>ACA388619762LIG4c.643C>T (p.His215Tyr)
c.844C>T (p.His282Tyr)
c.880C>T (p.His294Tyr)
c.856C>T (p.His286Tyr)
13g.108210425G>CCA388619763LIG4c.643C>G (p.His215Asp)
c.844C>G (p.His282Asp)
c.880C>G (p.His294Asp)
c.856C>G (p.His286Asp)
13g.108210425G>TCA388619764LIG4c.643C>A (p.His215Asn)
c.844C>A (p.His282Asn)
c.880C>A (p.His294Asn)
c.856C>A (p.His286Asn)
13g.108210426C>ACA388619769LIG4c.642G>T (p.Met214Ile)
c.843G>T (p.Met281Ile)
c.879G>T (p.Met293Ile)
c.855G>T (p.Met285Ile)
13g.108210426C>GCA388619770LIG4c.642G>C (p.Met214Ile)
c.843G>C (p.Met281Ile)
c.879G>C (p.Met293Ile)
c.855G>C (p.Met285Ile)
13g.108210426C>TCA388619768LIG4c.642G>A (p.Met214Ile)
c.843G>A (p.Met281Ile)
c.879G>A (p.Met293Ile)
c.855G>A (p.Met285Ile)
13g.108210427A=CA2117794637LIG4c.641T= (p.Met214=)
c.842T= (p.Met281=)
c.878T= (p.Met293=)
c.854T= (p.Met285=)
13g.108210427A>CCA388619771LIG4c.641T>G (p.Met214Arg)
c.842T>G (p.Met281Arg)
c.878T>G (p.Met293Arg)
c.854T>G (p.Met285Arg)
13g.108210427A>GCA388619775LIG4c.641T>C (p.Met214Thr)
c.842T>C (p.Met281Thr)
c.878T>C (p.Met293Thr)
c.854T>C (p.Met285Thr)
 ClinVar dbSNP
13g.108210427A>TCA388619772LIG4c.641T>A (p.Met214Lys)
c.842T>A (p.Met281Lys)
c.878T>A (p.Met293Lys)
c.854T>A (p.Met285Lys)
13g.108210428T>ACA388619777LIG4c.640A>T (p.Met214Leu)
c.841A>T (p.Met281Leu)
c.877A>T (p.Met293Leu)
c.853A>T (p.Met285Leu)
13g.108210428T>CCA388619778LIG4c.640A>G (p.Met214Val)
c.841A>G (p.Met281Val)
c.877A>G (p.Met293Val)
c.853A>G (p.Met285Val)
 gnomAD v4
13g.108210428T>GCA388619779LIG4c.640A>C (p.Met214Leu)
c.841A>C (p.Met281Leu)
c.877A>C (p.Met293Leu)
c.853A>C (p.Met285Leu)
13g.108210429T>ACA388619780LIG4c.639A>T (p.Gln213His)
c.840A>T (p.Gln280His)
c.876A>T (p.Gln292His)
c.852A>T (p.Gln284His)
13g.108210429T>CCA484976074LIG4c.639A>G (p.Gln213=)
c.840A>G (p.Gln280=)
c.876A>G (p.Gln292=)
c.852A>G (p.Gln284=)
 ClinVar
13g.108210429T>GCA388619782LIG4c.639A>C (p.Gln213His)
c.840A>C (p.Gln280His)
c.876A>C (p.Gln292His)
c.852A>C (p.Gln284His)
 dbSNP gnomAD v4
13g.108210429T=CA2117794638LIG4c.639A= (p.Gln213=)
c.840A= (p.Gln280=)
c.876A= (p.Gln292=)
c.852A= (p.Gln284=)
13g.108210430T>ACA388619790LIG4c.638A>T (p.Gln213Leu)
c.839A>T (p.Gln280Leu)
c.875A>T (p.Gln292Leu)
c.851A>T (p.Gln284Leu)
13g.108210430T>CCA388619805LIG4c.638A>G (p.Gln213Arg)
c.839A>G (p.Gln280Arg)
c.875A>G (p.Gln292Arg)
c.851A>G (p.Gln284Arg)
 ClinVar
13g.108210430T>GCA388619809LIG4c.638A>C (p.Gln213Pro)
c.839A>C (p.Gln280Pro)
c.875A>C (p.Gln292Pro)
c.851A>C (p.Gln284Pro)
13g.108210431G>ACA388619815LIG4c.637C>T (p.Gln213Ter)
c.838C>T (p.Gln280Ter)
c.874C>T (p.Gln292Ter)
c.850C>T (p.Gln284Ter)
 gnomAD v4
13g.108210431G>CCA388619826LIG4c.637C>G (p.Gln213Glu)
c.838C>G (p.Gln280Glu)
c.874C>G (p.Gln292Glu)
c.850C>G (p.Gln284Glu)
13g.108210431G=CA2117794639LIG4c.637C= (p.Gln213=)
c.838C= (p.Gln280=)
c.874C= (p.Gln292=)
c.850C= (p.Gln284=)
13g.108210431G>TCA7043791LIG4c.637C>A (p.Gln213Lys)
c.838C>A (p.Gln280Lys)
c.874C>A (p.Gln292Lys)
c.850C>A (p.Gln284Lys)
 dbSNP ExAC gnomAD v2
13g.108210432C>ACA388619844LIG4c.636G>T (p.Met212Ile)
c.837G>T (p.Met279Ile)
c.873G>T (p.Met291Ile)
c.849G>T (p.Met283Ile)
13g.108210432C>GCA388619839LIG4c.636G>C (p.Met212Ile)
c.837G>C (p.Met279Ile)
c.873G>C (p.Met291Ile)
c.849G>C (p.Met283Ile)
13g.108210432C>TCA388619835LIG4c.636G>A (p.Met212Ile)
c.837G>A (p.Met279Ile)
c.873G>A (p.Met291Ile)
c.849G>A (p.Met283Ile)
13g.108210433A=CA2117794640LIG4c.635T= (p.Met212=)
c.836T= (p.Met279=)
c.872T= (p.Met291=)
c.848T= (p.Met283=)
13g.108210433A>CCA388619850LIG4c.635T>G (p.Met212Arg)
c.836T>G (p.Met279Arg)
c.872T>G (p.Met291Arg)
c.848T>G (p.Met283Arg)
 ClinVar dbSNP
13g.108210433A>GCA388619852LIG4c.635T>C (p.Met212Thr)
c.836T>C (p.Met279Thr)
c.872T>C (p.Met291Thr)
c.848T>C (p.Met283Thr)
13g.108210433A>TCA388619854LIG4c.635T>A (p.Met212Lys)
c.836T>A (p.Met279Lys)
c.872T>A (p.Met291Lys)
c.848T>A (p.Met283Lys)
13g.108210434T>ACA388619856LIG4c.634A>T (p.Met212Leu)
c.835A>T (p.Met279Leu)
c.871A>T (p.Met291Leu)
c.847A>T (p.Met283Leu)
13g.108210434T>CCA388619858LIG4c.634A>G (p.Met212Val)
c.835A>G (p.Met279Val)
c.871A>G (p.Met291Val)
c.847A>G (p.Met283Val)
13g.108210434T>GCA388619859LIG4c.634A>C (p.Met212Leu)
c.835A>C (p.Met279Leu)
c.871A>C (p.Met291Leu)
c.847A>C (p.Met283Leu)
13g.108210435A=CA2117794641LIG4c.633T= (p.Arg211=)
c.834T= (p.Arg278=)
c.870T= (p.Arg290=)
c.846T= (p.Arg282=)
13g.108210435A>CCA484976080LIG4c.633T>G (p.Arg211=)
c.834T>G (p.Arg278=)
c.870T>G (p.Arg290=)
c.846T>G (p.Arg282=)
13g.108210435A>GCA7043792LIG4c.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
13g.108210435A>TCA484976081LIG4c.633T>A (p.Arg211=)
c.834T>A (p.Arg278=)
c.870T>A (p.Arg290=)
c.846T>A (p.Arg282=)
13g.108210436C>ACA388619863LIG4c.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
13g.108210436C=CA2117794642LIG4c.632G= (p.Arg211=)
c.833G= (p.Arg278=)
c.869G= (p.Arg290=)
c.845G= (p.Arg282=)
13g.108210436C>GCA388619865LIG4c.632G>C (p.Arg211Pro)
c.833G>C (p.Arg278Pro)
c.869G>C (p.Arg290Pro)
c.845G>C (p.Arg282Pro)
 ClinVar gnomAD v4
13g.108210436C>TCA118981LIG4c.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
13g.108210437G>ACA7043793LIG4c.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
13g.108210437G>CCA388619889LIG4c.631C>G (p.Arg211Gly)
c.832C>G (p.Arg278Gly)
c.868C>G (p.Arg290Gly)
c.844C>G (p.Arg282Gly)
 ClinVar dbSNP
13g.108210437G=CA2117794643LIG4c.631C= (p.Arg211=)
c.832C= (p.Arg278=)
c.868C= (p.Arg290=)
c.844C= (p.Arg282=)
13g.108210437G>TCA388619895LIG4c.631C>A (p.Arg211Ser)
c.832C>A (p.Arg278Ser)
c.868C>A (p.Arg290Ser)
c.844C>A (p.Arg282Ser)
 ClinVar
13g.108210438T>ACA388619897LIG4c.630A>T (p.Glu210Asp)
c.831A>T (p.Glu277Asp)
c.867A>T (p.Glu289Asp)
c.843A>T (p.Glu281Asp)
13g.108210438T>CCA484976083LIG4c.630A>G (p.Glu210=)
c.831A>G (p.Glu277=)
c.867A>G (p.Glu289=)
c.843A>G (p.Glu281=)
13g.108210438T>GCA388619905LIG4c.630A>C (p.Glu210Asp)
c.831A>C (p.Glu277Asp)
c.867A>C (p.Glu289Asp)
c.843A>C (p.Glu281Asp)

Number of alleles fetched