Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.33302010_33302161delCA645612697CEBPAc.260_411del (p.Gln87LeufsTer?)
c.-98_54del
c.365_516del (p.Gln122LeufsTer?)
c.218_369del (p.Gln73LeufsTer?)
 COSMIC
19g.33302026_33302397delCA645612699CEBPAc.23_394del (p.Glu8_Tyr131del)
c.-335_37del
c.128_499del (p.Glu43_Tyr166del)
c.-20_352del
 COSMIC
19g.33302077_33302130delCA2584317493CEBPAc.292_345del (p.Thr98_Pro115del)
c.-66_-13del (n.-66_-13del)
c.397_450del (p.Thr133_Pro150del)
c.250_303del (p.Thr84_Pro101del)
 gnomAD v4
19g.33302082_33302126delCA2814184029CEBPAc.292_336del (p.Thr98_Pro112del)
c.-66_-22del (n.-66_-22del)
c.397_441del (p.Thr133_Pro147del)
c.250_294del (p.Thr84_Pro98del)
19g.33302085_33302138delCA2584317494CEBPAc.280_333del (p.Ala94_Ala111del)
c.-78_-25del (n.-78_-25del)
c.385_438del (p.Ala129_Ala146del)
c.238_291del (p.Ala80_Ala97del)
 gnomAD v4
19g.33302118_33302120dupCA9363714CEBPAc.311_313dup (p.Gly104_Asp105insGly)
c.-47_-45dup (n.-47_-45dup)
c.416_418dup (p.Gly139_Asp140insGly)
c.269_271dup (p.Gly90_Asp91insGly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.33302115_33302120dupCA307844366CEBPAc.308_313dup (p.Gly104_Asp105insGlyGly)
c.-50_-45dup (n.-50_-45dup)
c.413_418dup (p.Gly139_Asp140insGlyGly)
c.266_271dup (p.Gly90_Asp91insGlyGly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33302112_33302120dupCA307844371CEBPAc.305_313dup (p.Gly104_Asp105insGlyGlyGly)
c.-53_-45dup (n.-53_-45dup)
c.410_418dup (p.Gly139_Asp140insGlyGlyGly)
c.263_271dup (p.Gly90_Asp91insGlyGlyGly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.33302118_33302120delCA405275216CEBPAc.311_313del (p.Gly104del)
c.-47_-45del (n.-47_-45del)
c.416_418del (p.Gly139del)
c.269_271del (p.Gly90del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.33302115_33302120delCA633069972CEBPAc.308_313del (p.Gly103_Gly104del)
c.-50_-45del (n.-50_-45del)
c.413_418del (p.Gly138_Gly139del)
c.266_271del (p.Gly89_Gly90del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33302112_33302120delCA307844369CEBPAc.305_313del (p.Gly102_Gly104del)
c.-53_-45del (n.-53_-45del)
c.410_418del (p.Gly137_Gly139del)
c.263_271del (p.Gly88_Gly90del)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.33302103_33302127delCA645612737CEBPAc.288_312del (p.Pro97ThrfsTer?)
c.-70_-46del (n.-70_-46del)
c.393_417del (p.Pro132ThrfsTer?)
c.246_270del (p.Pro83ThrfsTer?)
 COSMIC
19g.33302106_33302130delCA645612739CEBPAc.287_311del (p.Gly96AlafsTer?)
c.-71_-47del (n.-71_-47del)
c.392_416del (p.Gly131AlafsTer?)
c.245_269del (p.Gly82AlafsTer?)
 COSMIC
19g.33302116_33302122delCA645612741CEBPAc.296_302del (p.Gly99AlafsTer?)
c.-62_-56del (n.-62_-56del)
c.401_407del (p.Gly134AlafsTer?)
c.254_260del (p.Gly85AlafsTer?)
 COSMIC
19g.33302119_33302122dupCA645612742CEBPAc.296_299dup (p.Gly101ArgfsTer8)
c.-62_-59dup (n.-62_-59dup)
c.401_404dup (p.Gly136ArgfsTer8)
c.254_257dup (p.Gly87ArgfsTer8)
 COSMIC
19g.33302116_33302123delinsCCGCCCGTCA2332660341CEBPAc.292_299delinsACGGGCGG (p.Thr98=)
c.-66_-59delinsACGGGCGG (n.-66_-59delinsACGGGCGG)
c.397_404delinsACGGGCGG (p.Thr133=)
c.250_257delinsACGGGCGG (p.Thr84=)
19g.33302117_33302123delCA2332660342CEBPAc.292_298del (p.Thr98AlafsTer?)
c.-66_-60del (n.-66_-60del)
c.397_403del (p.Thr133AlafsTer?)
c.250_256del (p.Thr84AlafsTer?)
 dbSNP gnomAD v4
19g.33302119_33302121dupCA1139666395CEBPAc.294_296dup (p.Gly99_Gly100insGly)
c.-64_-62dup (n.-64_-62dup)
c.399_401dup (p.Gly134_Gly135insGly)
c.252_254dup (p.Gly85_Gly86insGly)
 ClinVar dbSNP
19g.33302121delCA2584317500CEBPAc.296del (p.Gly99AlafsTer?)
c.-62del (n.-62del)
c.401del (p.Gly134AlafsTer?)
c.254del (p.Gly85AlafsTer?)
 gnomAD v4
19g.33302120C>ACA405275249CEBPAc.295G>T (p.Gly99Cys)
c.-63G>T (n.-63G>T)
c.400G>T (p.Gly134Cys)
c.253G>T (p.Gly85Cys)
 gnomAD v4
19g.33302120C=CA2332660345CEBPAc.295G= (p.Gly99=)
c.-63G= (n.-63G=)
c.400G= (p.Gly134=)
c.253G= (p.Gly85=)
19g.33302120C>GCA405275251CEBPAc.295G>C (p.Gly99Arg)
c.-63G>C (n.-63G>C)
c.400G>C (p.Gly134Arg)
c.253G>C (p.Gly85Arg)
19g.33302120C>TCA405275250CEBPAc.295G>A (p.Gly99Ser)
c.-63G>A (n.-63G>A)
c.400G>A (p.Gly134Ser)
c.253G>A (p.Gly85Ser)
 ClinVar dbSNP gnomAD v4
19g.33302120_33302123delCA2547651011CEBPAc.292_295del (p.Thr98AlafsTer?)
c.-66_-63del (n.-66_-63del)
c.397_400del (p.Thr133AlafsTer?)
c.250_253del (p.Thr84AlafsTer?)
19g.33302122_33302129dupCA645612743CEBPAc.288_295dup (p.Gly99AlafsTer?)
c.-70_-63dup (n.-70_-63dup)
c.393_400dup (p.Gly134AlafsTer?)
c.246_253dup (p.Gly85AlafsTer?)
 COSMIC
19g.33302121C>ACA507007331CEBPAc.294G>T (p.Thr98=)
c.-64G>T (n.-64G>T)
c.399G>T (p.Thr133=)
c.252G>T (p.Thr84=)
 gnomAD v4
19g.33302121C>GCA507007333CEBPAc.294G>C (p.Thr98=)
c.-64G>C (n.-64G>C)
c.399G>C (p.Thr133=)
c.252G>C (p.Thr84=)
 dbSNP
19g.33302121C>TCA507007329CEBPAc.294G>A (p.Thr98=)
c.-64G>A (n.-64G>A)
c.399G>A (p.Thr133=)
c.252G>A (p.Thr84=)
 ClinVar dbSNP gnomAD v4
19g.33302122G>ACA405275252CEBPAc.293C>T (p.Thr98Met)
c.-65C>T (n.-65C>T)
c.398C>T (p.Thr133Met)
c.251C>T (p.Thr84Met)
 ClinVar dbSNP gnomAD v4
19g.33302122G>CCA405275254CEBPAc.293C>G (p.Thr98Arg)
c.-65C>G (n.-65C>G)
c.398C>G (p.Thr133Arg)
c.251C>G (p.Thr84Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.33302122G=CA2332660346CEBPAc.293C= (p.Thr98=)
c.-65C= (n.-65C=)
c.398C= (p.Thr133=)
c.251C= (p.Thr84=)
19g.33302122G>TCA405275253CEBPAc.293C>A (p.Thr98Lys)
c.-65C>A (n.-65C>A)
c.398C>A (p.Thr133Lys)
c.251C>A (p.Thr84Lys)
 gnomAD v4
19g.33302123delCA2580096799CEBPAc.292del (p.Thr98ArgfsTer?)
c.-66del (n.-66del)
c.397del (p.Thr133ArgfsTer?)
c.250del (p.Thr84ArgfsTer?)
 ClinVar
19g.33302123T>ACA405275255CEBPAc.292A>T (p.Thr98Ser)
c.-66A>T (n.-66A>T)
c.397A>T (p.Thr133Ser)
c.250A>T (p.Thr84Ser)
 gnomAD v4
19g.33302123T>CCA405275256CEBPAc.292A>G (p.Thr98Ala)
c.-66A>G (n.-66A>G)
c.397A>G (p.Thr133Ala)
c.250A>G (p.Thr84Ala)
 dbSNP gnomAD v4
19g.33302123T>GCA405275257CEBPAc.292A>C (p.Thr98Pro)
c.-66A>C (n.-66A>C)
c.397A>C (p.Thr133Pro)
c.250A>C (p.Thr84Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.33302123dupCA2580611787CEBPAc.292dup (p.Thr98AsnfsTer10)
c.-66dup (n.-66dup)
c.397dup (p.Thr133AsnfsTer10)
c.250dup (p.Thr84AsnfsTer10)
19g.33302124G>ACA507007337CEBPAc.291C>T (p.Pro97=)
c.-67C>T (n.-67C>T)
c.396C>T (p.Pro132=)
c.249C>T (p.Pro83=)
 gnomAD v4
19g.33302124G>CCA507007338CEBPAc.291C>G (p.Pro97=)
c.-67C>G (n.-67C>G)
c.396C>G (p.Pro132=)
c.249C>G (p.Pro83=)
19g.33302124G>TCA507007340CEBPAc.291C>A (p.Pro97=)
c.-67C>A (n.-67C>A)
c.396C>A (p.Pro132=)
c.249C>A (p.Pro83=)
 gnomAD v4
19g.33302127dupCA645612746CEBPAc.291dup (p.Thr98HisfsTer10)
c.-67dup (n.-67dup)
c.396dup (p.Thr133HisfsTer10)
c.249dup (p.Thr84HisfsTer10)
 COSMIC
19g.33302126_33302127dupCA645612745CEBPAc.290_291dup (p.Thr98ProfsTer?)
c.-68_-67dup (n.-68_-67dup)
c.395_396dup (p.Thr133ProfsTer?)
c.248_249dup (p.Thr84ProfsTer?)
 COSMIC
19g.33302127delCA2584317501CEBPAc.291del (p.Thr98ArgfsTer?)
c.-67del (n.-67del)
c.396del (p.Thr133ArgfsTer?)
c.249del (p.Thr84ArgfsTer?)
 gnomAD v4
19g.33302124_33302128delCA645612747CEBPAc.287_291del (p.Gly96AspfsTer10)
c.-71_-67del (n.-71_-67del)
c.392_396del (p.Gly131AspfsTer10)
c.245_249del (p.Gly82AspfsTer10)
 COSMIC
19g.33302124_33302125insCCA507007341CEBPAc.290_291insG (p.Thr98HisfsTer10)
c.-68_-67insG (n.-68_-67insG)
c.395_396insG (p.Thr133HisfsTer10)
c.248_249insG (p.Thr84HisfsTer10)
19g.33302125G>ACA405275258CEBPAc.290C>T (p.Pro97Leu)
c.-68C>T (n.-68C>T)
c.395C>T (p.Pro132Leu)
c.248C>T (p.Pro83Leu)
 ClinVar dbSNP gnomAD v4
19g.33302125G>CCA405275259CEBPAc.290C>G (p.Pro97Arg)
c.-68C>G (n.-68C>G)
c.395C>G (p.Pro132Arg)
c.248C>G (p.Pro83Arg)
19g.33302125G=CA2332660347CEBPAc.290C= (p.Pro97=)
c.-68C= (n.-68C=)
c.395C= (p.Pro132=)
c.248C= (p.Pro83=)
19g.33302125G>TCA405275260CEBPAc.290C>A (p.Pro97His)
c.-68C>A (n.-68C>A)
c.395C>A (p.Pro132His)
c.248C>A (p.Pro83His)
 gnomAD v4 COSMIC

Number of alleles fetched