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.33302009_33302029dupCA2573156217CEBPAc.394_414dup (p.Tyr138_Leu139insGlyCysAlaAlaAlaGlyTyr)
c.37_57dup (p.Tyr19_Leu20insGlyCysAlaAlaAlaGlyTyr)
c.499_519dup (p.Tyr173_Leu174insGlyCysAlaAlaAlaGlyTyr)
c.352_372dup (p.Tyr124_Leu125insGlyCysAlaAlaAlaGlyTyr)
 ClinVar dbSNP gnomAD v4
19g.33302010_33302161delCA645612697CEBPAc.260_411del (p.Gln87LeufsTer?)
c.-98_54del
c.365_516del (p.Gln122LeufsTer?)
c.218_369del (p.Gln73LeufsTer?)
 COSMIC
19g.33302020C>ACA405275043CEBPAc.395G>T (p.Gly132Val)
c.38G>T (p.Gly13Val)
c.500G>T (p.Gly167Val)
c.353G>T (p.Gly118Val)
 gnomAD v4
19g.33302020C>GCA405275044CEBPAc.395G>C (p.Gly132Ala)
c.38G>C (p.Gly13Ala)
c.500G>C (p.Gly167Ala)
c.353G>C (p.Gly118Ala)
19g.33302020C>TCA405275045CEBPAc.395G>A (p.Gly132Asp)
c.38G>A (p.Gly13Asp)
c.500G>A (p.Gly167Asp)
c.353G>A (p.Gly118Asp)
 ClinVar gnomAD v4
19g.33302021C>ACA307844320CEBPAc.394G>T (p.Gly132Cys)
c.37G>T (p.Gly13Cys)
c.499G>T (p.Gly167Cys)
c.352G>T (p.Gly118Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33302021C=CA2332660278CEBPAc.394G= (p.Gly132=)
c.37G= (p.Gly13=)
c.499G= (p.Gly167=)
c.352G= (p.Gly118=)
19g.33302021C>GCA405275046CEBPAc.394G>C (p.Gly132Arg)
c.37G>C (p.Gly13Arg)
c.499G>C (p.Gly167Arg)
c.352G>C (p.Gly118Arg)
 ClinVar dbSNP gnomAD v4
19g.33302021C>TCA405275047CEBPAc.394G>A (p.Gly132Ser)
c.37G>A (p.Gly13Ser)
c.499G>A (p.Gly167Ser)
c.352G>A (p.Gly118Ser)
 ClinVar gnomAD v4
19g.33302026_33302397delCA645612699CEBPAc.23_394del (p.Glu8_Tyr131del)
c.-335_37del
c.128_499del (p.Glu43_Tyr166del)
c.-20_352del
 COSMIC
19g.33302022G>ACA507007836CEBPAc.393C>T (p.Tyr131=)
c.36C>T (p.Tyr12=)
c.498C>T (p.Tyr166=)
c.351C>T (p.Tyr117=)
 dbSNP gnomAD v3 gnomAD v4
19g.33302022G>CCA405275048CEBPAc.393C>G (p.Tyr131Ter)
c.36C>G (p.Tyr12Ter)
c.498C>G (p.Tyr166Ter)
c.351C>G (p.Tyr117Ter)
 dbSNP
19g.33302022G=CA2332660279CEBPAc.393C= (p.Tyr131=)
c.36C= (p.Tyr12=)
c.498C= (p.Tyr166=)
c.351C= (p.Tyr117=)
19g.33302022G>TCA405275049CEBPAc.393C>A (p.Tyr131Ter)
c.36C>A (p.Tyr12Ter)
c.498C>A (p.Tyr166Ter)
c.351C>A (p.Tyr117Ter)
 gnomAD v4
19g.33302023T>ACA405275050CEBPAc.392A>T (p.Tyr131Phe)
c.35A>T (p.Tyr12Phe)
c.497A>T (p.Tyr166Phe)
c.350A>T (p.Tyr117Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33302023T>CCA405275051CEBPAc.392A>G (p.Tyr131Cys)
c.35A>G (p.Tyr12Cys)
c.497A>G (p.Tyr166Cys)
c.350A>G (p.Tyr117Cys)
 gnomAD v4
19g.33302023T>GCA405275052CEBPAc.392A>C (p.Tyr131Ser)
c.35A>C (p.Tyr12Ser)
c.497A>C (p.Tyr166Ser)
c.350A>C (p.Tyr117Ser)
 dbSNP
19g.33302023T=CA2332660280CEBPAc.392A= (p.Tyr131=)
c.35A= (p.Tyr12=)
c.497A= (p.Tyr166=)
c.350A= (p.Tyr117=)
19g.33302023dupCA645612700CEBPAc.392dup (p.Tyr131Ter)
c.35dup (p.Tyr12Ter)
c.497dup (p.Tyr166Ter)
c.350dup (p.Tyr117Ter)
 COSMIC
19g.33302024A>CCA405275053CEBPAc.391T>G (p.Tyr131Asp)
c.34T>G (p.Tyr12Asp)
c.496T>G (p.Tyr166Asp)
c.349T>G (p.Tyr117Asp)
19g.33302024A>GCA405275055CEBPAc.391T>C (p.Tyr131His)
c.34T>C (p.Tyr12His)
c.496T>C (p.Tyr166His)
c.349T>C (p.Tyr117His)
 dbSNP gnomAD v4
19g.33302024A>TCA405275054CEBPAc.391T>A (p.Tyr131Asn)
c.34T>A (p.Tyr12Asn)
c.496T>A (p.Tyr166Asn)
c.349T>A (p.Tyr117Asn)
19g.33302024dupCA507007837CEBPAc.391dup (p.Tyr131LeufsTer?)
c.34dup (p.Tyr12LeufsTer?)
c.496dup (p.Tyr166LeufsTer?)
c.349dup (p.Tyr117LeufsTer?)
19g.33302024_33302033delCA995294502CEBPAc.382_391del (p.Pro128ThrfsTer29)
c.25_34del (p.Pro9ThrfsTer29)
c.487_496del (p.Pro163ThrfsTer29)
c.340_349del (p.Pro114ThrfsTer29)
 gnomAD v3 gnomAD v4
19g.33302025G>ACA507007838CEBPAc.390C>T (p.Gly130=)
c.33C>T (p.Gly11=)
c.495C>T (p.Gly165=)
c.348C>T (p.Gly116=)
 dbSNP gnomAD v4
19g.33302025G>CCA507007839CEBPAc.390C>G (p.Gly130=)
c.33C>G (p.Gly11=)
c.495C>G (p.Gly165=)
c.348C>G (p.Gly116=)
19g.33302025G=CA2332660281CEBPAc.390C= (p.Gly130=)
c.33C= (p.Gly11=)
c.495C= (p.Gly165=)
c.348C= (p.Gly116=)
19g.33302025G>TCA507007840CEBPAc.390C>A (p.Gly130=)
c.33C>A (p.Gly11=)
c.495C>A (p.Gly165=)
c.348C>A (p.Gly116=)
 gnomAD v4
19g.33302026C>ACA405275056CEBPAc.389G>T (p.Gly130Val)
c.32G>T (p.Gly11Val)
c.494G>T (p.Gly165Val)
c.347G>T (p.Gly116Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.33302026C=CA2332660282CEBPAc.389G= (p.Gly130=)
c.32G= (p.Gly11=)
c.494G= (p.Gly165=)
c.347G= (p.Gly116=)
19g.33302026C>GCA405275057CEBPAc.389G>C (p.Gly130Ala)
c.32G>C (p.Gly11Ala)
c.494G>C (p.Gly165Ala)
c.347G>C (p.Gly116Ala)
19g.33302026C>TCA405275058CEBPAc.389G>A (p.Gly130Asp)
c.32G>A (p.Gly11Asp)
c.494G>A (p.Gly165Asp)
c.347G>A (p.Gly116Asp)
 ClinVar gnomAD v4
19g.33302027C>ACA405275059CEBPAc.388G>T (p.Gly130Cys)
c.31G>T (p.Gly11Cys)
c.493G>T (p.Gly165Cys)
c.346G>T (p.Gly116Cys)
 ClinVar dbSNP gnomAD v4
19g.33302027C=CA2332660283CEBPAc.388G= (p.Gly130=)
c.31G= (p.Gly11=)
c.493G= (p.Gly165=)
c.346G= (p.Gly116=)
19g.33302027C>GCA405275060CEBPAc.388G>C (p.Gly130Arg)
c.31G>C (p.Gly11Arg)
c.493G>C (p.Gly165Arg)
c.346G>C (p.Gly116Arg)
 dbSNP
19g.33302027C>TCA16616262CEBPAc.388G>A (p.Gly130Ser)
c.31G>A (p.Gly11Ser)
c.493G>A (p.Gly165Ser)
c.346G>A (p.Gly116Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33302028G>ACA507007841CEBPAc.387C>T (p.Pro129=)
c.30C>T (p.Pro10=)
c.492C>T (p.Pro164=)
c.345C>T (p.Pro115=)
 ClinVar gnomAD v4
19g.33302028G>CCA16616061CEBPAc.387C>G (p.Pro129=)
c.30C>G (p.Pro10=)
c.492C>G (p.Pro164=)
c.345C>G (p.Pro115=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33302028G=CA2332660284CEBPAc.387C= (p.Pro129=)
c.30C= (p.Pro10=)
c.492C= (p.Pro164=)
c.345C= (p.Pro115=)
19g.33302028G>TCA507007842CEBPAc.387C>A (p.Pro129=)
c.30C>A (p.Pro10=)
c.492C>A (p.Pro164=)
c.345C>A (p.Pro115=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33302029G>ACA405275061CEBPAc.386C>T (p.Pro129Leu)
c.29C>T (p.Pro10Leu)
c.491C>T (p.Pro164Leu)
c.344C>T (p.Pro115Leu)
 gnomAD v4
19g.33302029G>CCA405275062CEBPAc.386C>G (p.Pro129Arg)
c.29C>G (p.Pro10Arg)
c.491C>G (p.Pro164Arg)
c.344C>G (p.Pro115Arg)
19g.33302029G=CA2332660285CEBPAc.386C= (p.Pro129=)
c.29C= (p.Pro10=)
c.491C= (p.Pro164=)
c.344C= (p.Pro115=)
19g.33302029G>TCA405275063CEBPAc.386C>A (p.Pro129His)
c.29C>A (p.Pro10His)
c.491C>A (p.Pro164His)
c.344C>A (p.Pro115His)
 ClinVar dbSNP gnomAD v4
19g.33302030G>ACA405275064CEBPAc.385C>T (p.Pro129Ser)
c.28C>T (p.Pro10Ser)
c.490C>T (p.Pro164Ser)
c.343C>T (p.Pro115Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.33302030G>CCA405275065CEBPAc.385C>G (p.Pro129Ala)
c.28C>G (p.Pro10Ala)
c.490C>G (p.Pro164Ala)
c.343C>G (p.Pro115Ala)
19g.33302030G=CA2332660286CEBPAc.385C= (p.Pro129=)
c.28C= (p.Pro10=)
c.490C= (p.Pro164=)
c.343C= (p.Pro115=)
19g.33302030G>TCA405275066CEBPAc.385C>A (p.Pro129Thr)
c.28C>A (p.Pro10Thr)
c.490C>A (p.Pro164Thr)
c.343C>A (p.Pro115Thr)
 gnomAD v4
19g.33302031C>ACA307844327CEBPAc.384G>T (p.Pro128=)
c.27G>T (p.Pro9=)
c.489G>T (p.Pro163=)
c.342G>T (p.Pro114=)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched