Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.33301780_33301952delCA2584317398CEBPAc.471_643del (p.Leu158AspfsTer?)
c.114_286del (p.Leu39AspfsTer?)
c.576_748del (p.Leu193AspfsTer?)
c.429_601del (p.Leu144AspfsTer?)
 gnomAD v4
19g.33301855_33301947delCA2584317459CEBPAc.473_565del (p.Leu158_Pro188del)
c.116_208del (p.Leu39_Pro69del)
c.578_670del (p.Leu193_Pro223del)
c.431_523del (p.Leu144_Pro174del)
 gnomAD v4
19g.33301865_33301960delCA2584317466CEBPAc.460_555del (p.Ala154_Pro185del)
c.103_198del (p.Ala35_Pro66del)
c.565_660del (p.Ala189_Pro220del)
c.418_513del (p.Ala140_Pro171del)
 gnomAD v4
19g.33301868_33301960delCA2584317467CEBPAc.460_552del (p.Ala154_Pro184del)
c.103_195del (p.Ala35_Pro65del)
c.565_657del (p.Ala189_Pro219del)
c.418_510del (p.Ala140_Pro170del)
 gnomAD v4
19g.33301870_33301959delCA2584317468CEBPAc.460_549del (p.Ala154_Pro183del)
c.103_192del (p.Ala35_Pro64del)
c.565_654del (p.Ala189_Pro218del)
c.418_507del (p.Ala140_Pro169del)
 gnomAD v4
19g.33301893_33302183delCA645612682CEBPAc.239_529del (p.Asp80_Ala176del)
c.-119_172del
c.344_634del (p.Asp115_Ala211del)
c.197_487del (p.Asp66_Ala162del)
 COSMIC
19g.33301897_33301956delCA2584317474CEBPAc.466_525del (p.Arg156_Leu175del)
c.109_168del (p.Arg37_Leu56del)
c.571_630del (p.Arg191_Leu210del)
c.424_483del (p.Arg142_Leu161del)
 gnomAD v4
19g.33301897_33301962delCA2695198167CEBPAc.458_523del (p.Pro153_Ala174del)
c.101_166del (p.Pro34_Ala55del)
c.563_628del (p.Pro188_Ala209del)
c.416_481del (p.Pro139_Ala160del)
 ClinVar
19g.33301917_33301919delCA645612685CEBPAc.501_503del (p.Glu167del)
c.144_146del (p.Glu48del)
c.606_608del (p.Glu202del)
c.459_461del (p.Glu153del)
 gnomAD v4 COSMIC
19g.33301913C>ACA405274815CEBPAc.502G>T (p.Asp168Tyr)
c.145G>T (p.Asp49Tyr)
c.607G>T (p.Asp203Tyr)
c.460G>T (p.Asp154Tyr)
 gnomAD v4
19g.33301913C>GCA405274816CEBPAc.502G>C (p.Asp168His)
c.145G>C (p.Asp49His)
c.607G>C (p.Asp203His)
c.460G>C (p.Asp154His)
19g.33301913C>TCA405274817CEBPAc.502G>A (p.Asp168Asn)
c.145G>A (p.Asp49Asn)
c.607G>A (p.Asp203Asn)
c.460G>A (p.Asp154Asn)
 ClinVar gnomAD v4
19g.33301914C>ACA405274818CEBPAc.501G>T (p.Glu167Asp)
c.144G>T (p.Glu48Asp)
c.606G>T (p.Glu202Asp)
c.459G>T (p.Glu153Asp)
 dbSNP gnomAD v4
19g.33301914C=CA2332660231CEBPAc.501G= (p.Glu167=)
c.144G= (p.Glu48=)
c.606G= (p.Glu202=)
c.459G= (p.Glu153=)
19g.33301914C>GCA405274819CEBPAc.501G>C (p.Glu167Asp)
c.144G>C (p.Glu48Asp)
c.606G>C (p.Glu202Asp)
c.459G>C (p.Glu153Asp)
 gnomAD v4
19g.33301914C>TCA507007742CEBPAc.501G>A (p.Glu167=)
c.144G>A (p.Glu48=)
c.606G>A (p.Glu202=)
c.459G>A (p.Glu153=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.33301915_33301916dupCA645612686CEBPAc.500_501dup (p.Asp168ArgfsTer?)
c.143_144dup (p.Asp49ArgfsTer?)
c.605_606dup (p.Asp203ArgfsTer?)
c.458_459dup (p.Asp154ArgfsTer?)
 COSMIC
19g.33301915delCA2584317476CEBPAc.500del (p.Glu167GlyfsTer?)
c.143del (p.Glu48GlyfsTer?)
c.605del (p.Glu202GlyfsTer?)
c.458del (p.Glu153GlyfsTer?)
 gnomAD v4
19g.33301915T>ACA405274820CEBPAc.500A>T (p.Glu167Val)
c.143A>T (p.Glu48Val)
c.605A>T (p.Glu202Val)
c.458A>T (p.Glu153Val)
 gnomAD v4
19g.33301915T>CCA405274822CEBPAc.500A>G (p.Glu167Gly)
c.143A>G (p.Glu48Gly)
c.605A>G (p.Glu202Gly)
c.458A>G (p.Glu153Gly)
 dbSNP gnomAD v4
19g.33301915T>GCA405274821CEBPAc.500A>C (p.Glu167Ala)
c.143A>C (p.Glu48Ala)
c.605A>C (p.Glu202Ala)
c.458A>C (p.Glu153Ala)
 gnomAD v4
19g.33301916C>ACA405274823CEBPAc.499G>T (p.Glu167Ter)
c.142G>T (p.Glu48Ter)
c.604G>T (p.Glu202Ter)
c.457G>T (p.Glu153Ter)
 gnomAD v4
19g.33301916C=CA2332660232CEBPAc.499G= (p.Glu167=)
c.142G= (p.Glu48=)
c.604G= (p.Glu202=)
c.457G= (p.Glu153=)
19g.33301916C>GCA405274825CEBPAc.499G>C (p.Glu167Gln)
c.142G>C (p.Glu48Gln)
c.604G>C (p.Glu202Gln)
c.457G>C (p.Glu153Gln)
19g.33301916C>TCA405274824CEBPAc.499G>A (p.Glu167Lys)
c.142G>A (p.Glu48Lys)
c.604G>A (p.Glu202Lys)
c.457G>A (p.Glu153Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33301917dupCA645612687CEBPAc.499dup (p.Glu167GlyfsTer3)
c.142dup (p.Glu48GlyfsTer3)
c.604dup (p.Glu202GlyfsTer3)
c.457dup (p.Glu153GlyfsTer3)
 COSMIC COSMIC
19g.33301917C>ACA405274826CEBPAc.498G>T (p.Glu166Asp)
c.141G>T (p.Glu47Asp)
c.603G>T (p.Glu201Asp)
c.456G>T (p.Glu152Asp)
 gnomAD v4
19g.33301917C>GCA405274827CEBPAc.498G>C (p.Glu166Asp)
c.141G>C (p.Glu47Asp)
c.603G>C (p.Glu201Asp)
c.456G>C (p.Glu152Asp)
 gnomAD v4
19g.33301917C>TCA507007747CEBPAc.498G>A (p.Glu166=)
c.141G>A (p.Glu47=)
c.603G>A (p.Glu201=)
c.456G>A (p.Glu152=)
 gnomAD v4
19g.33301917_33301918insGCA507007748CEBPAc.497_498insC (p.Glu166AspfsTer4)
c.140_141insC (p.Glu47AspfsTer4)
c.602_603insC (p.Glu201AspfsTer4)
c.455_456insC (p.Glu152AspfsTer4)
19g.33301918T>ACA405274828CEBPAc.497A>T (p.Glu166Val)
c.140A>T (p.Glu47Val)
c.602A>T (p.Glu201Val)
c.455A>T (p.Glu152Val)
19g.33301918T>CCA405274830CEBPAc.497A>G (p.Glu166Gly)
c.140A>G (p.Glu47Gly)
c.602A>G (p.Glu201Gly)
c.455A>G (p.Glu152Gly)
 dbSNP gnomAD v4
19g.33301918T>GCA405274829CEBPAc.497A>C (p.Glu166Ala)
c.140A>C (p.Glu47Ala)
c.602A>C (p.Glu201Ala)
c.455A>C (p.Glu152Ala)
 gnomAD v4
19g.33301919C>ACA405274831CEBPAc.496G>T (p.Glu166Ter)
c.139G>T (p.Glu47Ter)
c.601G>T (p.Glu201Ter)
c.454G>T (p.Glu152Ter)
 gnomAD v4 COSMIC
19g.33301919C=CA2332660233CEBPAc.496G= (p.Glu166=)
c.139G= (p.Glu47=)
c.601G= (p.Glu201=)
c.454G= (p.Glu152=)
19g.33301919C>GCA405274832CEBPAc.496G>C (p.Glu166Gln)
c.139G>C (p.Glu47Gln)
c.601G>C (p.Glu201Gln)
c.454G>C (p.Glu152Gln)
 gnomAD v4
19g.33301919C>TCA9363711CEBPAc.496G>A (p.Glu166Lys)
c.139G>A (p.Glu47Lys)
c.601G>A (p.Glu201Lys)
c.454G>A (p.Glu152Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.33301920G>ACA507007751CEBPAc.495C>T (p.Arg165=)
c.138C>T (p.Arg46=)
c.600C>T (p.Arg200=)
c.453C>T (p.Arg151=)
 gnomAD v4
19g.33301920G>CCA507007750CEBPAc.495C>G (p.Arg165=)
c.138C>G (p.Arg46=)
c.600C>G (p.Arg200=)
c.453C>G (p.Arg151=)
 dbSNP gnomAD v4
19g.33301920G>TCA507007749CEBPAc.495C>A (p.Arg165=)
c.138C>A (p.Arg46=)
c.600C>A (p.Arg200=)
c.453C>A (p.Arg151=)
 gnomAD v4
19g.33301921delCA507007752CEBPAc.494del (p.Arg165ProfsTer?)
c.137del (p.Arg46ProfsTer?)
c.599del (p.Arg200ProfsTer?)
c.452del (p.Arg151ProfsTer?)
 gnomAD v4 COSMIC
19g.33301921C>ACA405274833CEBPAc.494G>T (p.Arg165Leu)
c.137G>T (p.Arg46Leu)
c.599G>T (p.Arg200Leu)
c.452G>T (p.Arg151Leu)
 gnomAD v4
19g.33301921C=CA2332660234CEBPAc.494G= (p.Arg165=)
c.137G= (p.Arg46=)
c.599G= (p.Arg200=)
c.452G= (p.Arg151=)
19g.33301921C>GCA405274834CEBPAc.494G>C (p.Arg165Pro)
c.137G>C (p.Arg46Pro)
c.599G>C (p.Arg200Pro)
c.452G>C (p.Arg151Pro)
 dbSNP gnomAD v4
19g.33301921C>TCA405274835CEBPAc.494G>A (p.Arg165His)
c.137G>A (p.Arg46His)
c.599G>A (p.Arg200His)
c.452G>A (p.Arg151His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.33301922G>ACA405274836CEBPAc.493C>T (p.Arg165Cys)
c.136C>T (p.Arg46Cys)
c.598C>T (p.Arg200Cys)
c.451C>T (p.Arg151Cys)
 gnomAD v4
19g.33301922G>CCA405274837CEBPAc.493C>G (p.Arg165Gly)
c.136C>G (p.Arg46Gly)
c.598C>G (p.Arg200Gly)
c.451C>G (p.Arg151Gly)
 dbSNP gnomAD v4
19g.33301922G=CA2332660235CEBPAc.493C= (p.Arg165=)
c.136C= (p.Arg46=)
c.598C= (p.Arg200=)
c.451C= (p.Arg151=)
19g.33301922G>TCA405274838CEBPAc.493C>A (p.Arg165Ser)
c.136C>A (p.Arg46Ser)
c.598C>A (p.Arg200Ser)
c.451C>A (p.Arg151Ser)
 ClinVar dbSNP gnomAD v4
19g.33301925dupCA2814184015CEBPAc.493dup (p.Arg165ProfsTer5)
c.136dup (p.Arg46ProfsTer5)
c.598dup (p.Arg200ProfsTer5)
c.451dup (p.Arg151ProfsTer5)

Number of alleles fetched