Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.33302026_33302397delCA645612699CEBPAc.23_394del (p.Glu8_Tyr131del)
c.-335_37del
c.128_499del (p.Glu43_Tyr166del)
c.-20_352del
COSMIC
19g.33302237_33302256delCA645612841CEBPAc.161_180del (p.Gly54ValfsTer?)
c.-197_-178del (n.-197_-178del)
c.266_285del (p.Gly89ValfsTer?)
c.119_138del (p.Gly40ValfsTer?)
COSMIC
19g.33302249_33302250insAGAAGGAGTCGCACA645612852CEBPAc.170_171insCTCCTTCTTGCGA (p.Glu57AspfsTer?)
c.-188_-187insCTCCTTCTTGCGA (n.-188_-187insCTCCTTCTTGCGA)
c.275_276insCTCCTTCTTGCGA (p.Glu92AspfsTer?)
c.128_129insCTCCTTCTTGCGA (p.Glu43AspfsTer?)
COSMIC
19g.33302246_33302247delinsTCCA2580096808CEBPAc.168_169delinsGA (p.Cys56_Glu57delinsTrpLys)
c.-190_-189delinsGA (n.-190_-189delinsGA)
c.273_274delinsGA (p.Cys91_Glu92delinsTrpLys)
c.126_127delinsGA (p.Cys42_Glu43delinsTrpLys)
ClinVar
19g.33302248_33302263delCA645612853CEBPAc.154_169del (p.Leu52SerfsTer?)
c.-204_-189del (n.-204_-189del)
c.259_274del (p.Leu87SerfsTer?)
c.112_127del (p.Leu38SerfsTer?)
COSMIC
19g.33302247G>ACA507007606CEBPAc.168C>T (p.Cys56=)
c.-190C>T (n.-190C>T)
c.273C>T (p.Cys91=)
c.126C>T (p.Cys42=)
gnomAD v4
19g.33302247G>CCA405275538CEBPAc.168C>G (p.Cys56Trp)
c.-190C>G (n.-190C>G)
c.273C>G (p.Cys91Trp)
c.126C>G (p.Cys42Trp)
dbSNP
19g.33302247G=CA2332660403CEBPAc.168C= (p.Cys56=)
c.-190C= (n.-190C=)
c.273C= (p.Cys91=)
c.126C= (p.Cys42=)
19g.33302247G>TCA405275539CEBPAc.168C>A (p.Cys56Ter)
c.-190C>A (n.-190C>A)
c.273C>A (p.Cys91Ter)
c.126C>A (p.Cys42Ter)
ClinVar dbSNP gnomAD v4 COSMIC
19g.33302249_33302262delCA645612854CEBPAc.155_168del (p.Leu52ArgfsTer?)
c.-203_-190del (n.-203_-190del)
c.260_273del (p.Leu87ArgfsTer?)
c.113_126del (p.Leu38ArgfsTer?)
COSMIC
19g.33302248C>ACA405275540CEBPAc.167G>T (p.Cys56Phe)
c.-191G>T (n.-191G>T)
c.272G>T (p.Cys91Phe)
c.125G>T (p.Cys42Phe)
gnomAD v4
19g.33302248C>GCA405275541CEBPAc.167G>C (p.Cys56Ser)
c.-191G>C (n.-191G>C)
c.272G>C (p.Cys91Ser)
c.125G>C (p.Cys42Ser)
19g.33302248C>TCA405275542CEBPAc.167G>A (p.Cys56Tyr)
c.-191G>A (n.-191G>A)
c.272G>A (p.Cys91Tyr)
c.125G>A (p.Cys42Tyr)
gnomAD v4
19g.33302249_33302267delCA645612855CEBPAc.149_167del (p.Glu50AlafsTer?)
c.-209_-191del (n.-209_-191del)
c.254_272del (p.Glu85AlafsTer?)
c.107_125del (p.Glu36AlafsTer?)
COSMIC
19g.33302249_33302268delCA645612856CEBPAc.148_167del (p.Glu50ArgfsTer?)
c.-210_-191del (n.-210_-191del)
c.253_272del (p.Glu85ArgfsTer?)
c.106_125del (p.Glu36ArgfsTer?)
COSMIC
19g.33302249A>CCA405275543CEBPAc.166T>G (p.Cys56Gly)
c.-192T>G (n.-192T>G)
c.271T>G (p.Cys91Gly)
c.124T>G (p.Cys42Gly)
19g.33302249A>GCA405275544CEBPAc.166T>C (p.Cys56Arg)
c.-192T>C (n.-192T>C)
c.271T>C (p.Cys91Arg)
c.124T>C (p.Cys42Arg)
gnomAD v4
19g.33302249A>TCA405275545CEBPAc.166T>A (p.Cys56Ser)
c.-192T>A (n.-192T>A)
c.271T>A (p.Cys91Ser)
c.124T>A (p.Cys42Ser)
gnomAD v4
19g.33302249dupCA645612857CEBPAc.166dup (p.Cys56LeufsTer?)
c.-192dup (n.-192dup)
c.271dup (p.Cys91LeufsTer?)
c.124dup (p.Cys42LeufsTer?)
COSMIC
19g.33302251_33302252insAGCAGTCGCAAGACA645612858CEBPAc.166_167insTGCGACTGCTTCT (p.Cys56LeufsTer?)
c.-192_-191insTGCGACTGCTTCT (n.-192_-191insTGCGACTGCTTCT)
c.271_272insTGCGACTGCTTCT (p.Cys91LeufsTer?)
c.124_125insTGCGACTGCTTCT (p.Cys42LeufsTer?)
COSMIC
19g.33302250G>ACA507007608CEBPAc.165C>T (p.Ile55=)
c.-193C>T (n.-193C>T)
c.270C>T (p.Ile90=)
c.123C>T (p.Ile41=)
ClinVar dbSNP gnomAD v4
19g.33302250G>CCA405275546CEBPAc.165C>G (p.Ile55Met)
c.-193C>G (n.-193C>G)
c.270C>G (p.Ile90Met)
c.123C>G (p.Ile41Met)
19g.33302250G=CA2332660404CEBPAc.165C= (p.Ile55=)
c.-193C= (n.-193C=)
c.270C= (p.Ile90=)
c.123C= (p.Ile41=)
19g.33302250G>TCA507007610CEBPAc.165C>A (p.Ile55=)
c.-193C>A (n.-193C>A)
c.270C>A (p.Ile90=)
c.123C>A (p.Ile41=)
gnomAD v4
19g.33302250_33302251insGGCA645612859CEBPAc.165_166insCC (p.Cys56ProfsTer?)
c.-193_-192insCC (n.-193_-192insCC)
c.270_271insCC (p.Cys91ProfsTer?)
c.123_124insCC (p.Cys42ProfsTer?)
COSMIC
19g.33302251_33302269delCA658795201CEBPAc.147_165del (p.Glu50AlafsTer?)
c.-211_-193del (n.-211_-193del)
c.252_270del (p.Glu85AlafsTer?)
c.105_123del (p.Glu36AlafsTer?)
ClinVar dbSNP
19g.33302251A>CCA405275547CEBPAc.164T>G (p.Ile55Ser)
c.-194T>G (n.-194T>G)
c.269T>G (p.Ile90Ser)
c.122T>G (p.Ile41Ser)
19g.33302251A>GCA405275548CEBPAc.164T>C (p.Ile55Thr)
c.-194T>C (n.-194T>C)
c.269T>C (p.Ile90Thr)
c.122T>C (p.Ile41Thr)
gnomAD v4 COSMIC
19g.33302251A>TCA405275549CEBPAc.164T>A (p.Ile55Asn)
c.-194T>A (n.-194T>A)
c.269T>A (p.Ile90Asn)
c.122T>A (p.Ile41Asn)
19g.33302251_33302260delCA2695202676CEBPAc.155_164del (p.Leu52ProfsTer?)
c.-203_-194del (n.-203_-194del)
c.260_269del (p.Leu87ProfsTer?)
c.113_122del (p.Leu38ProfsTer?)
19g.33302251_33302281delinsATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGCA2332660405CEBPAc.134_164delinsCACCTGCCGCCCCGGAGCCGCTGGGCGGCAT (p.Pro45=)
c.-224_-194delinsCACCTGCCGCCCCGGAGCCGCTGGGCGGCAT (n.-224_-194delinsCACCTGCCGCCCCGGAGCCGCTGGGCGGCAT)
c.239_269delinsCACCTGCCGCCCCGGAGCCGCTGGGCGGCAT (p.Pro80=)
c.92_122delinsCACCTGCCGCCCCGGAGCCGCTGGGCGGCAT (p.Pro31=)
19g.33302252T>ACA405275552CEBPAc.163A>T (p.Ile55Phe)
c.-195A>T (n.-195A>T)
c.268A>T (p.Ile90Phe)
c.121A>T (p.Ile41Phe)
19g.33302252T>CCA405275551CEBPAc.163A>G (p.Ile55Val)
c.-195A>G (n.-195A>G)
c.268A>G (p.Ile90Val)
c.121A>G (p.Ile41Val)
gnomAD v4
19g.33302252T>GCA405275550CEBPAc.163A>C (p.Ile55Leu)
c.-195A>C (n.-195A>C)
c.268A>C (p.Ile90Leu)
c.121A>C (p.Ile41Leu)
dbSNP
19g.33302252_33302281delCA633069973CEBPAc.134_163del (p.Pro45_Ile55delinsLeu)
c.-224_-195del (n.-224_-195del)
c.239_268del (p.Pro80_Ile90delinsLeu)
c.92_121del (p.Pro31_Ile41delinsLeu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33302253G>ACA507007614CEBPAc.162C>T (p.Gly54=)
c.-196C>T (n.-196C>T)
c.267C>T (p.Gly89=)
c.120C>T (p.Gly40=)
ClinVar dbSNP gnomAD v4
19g.33302253G>CCA507007615CEBPAc.162C>G (p.Gly54=)
c.-196C>G (n.-196C>G)
c.267C>G (p.Gly89=)
c.120C>G (p.Gly40=)
19g.33302253G>TCA507007616CEBPAc.162C>A (p.Gly54=)
c.-196C>A (n.-196C>A)
c.267C>A (p.Gly89=)
c.120C>A (p.Gly40=)
gnomAD v4
19g.33302253_33302257delCA645612860CEBPAc.158_162del (p.Gly53AspfsTer?)
c.-200_-196del (n.-200_-196del)
c.263_267del (p.Gly88AspfsTer?)
c.116_120del (p.Gly39AspfsTer?)
COSMIC
19g.33302255_33302262delCA645612861CEBPAc.155_162del (p.Leu52HisfsTer?)
c.-203_-196del (n.-203_-196del)
c.260_267del (p.Leu87HisfsTer?)
c.113_120del (p.Leu38HisfsTer?)
COSMIC
19g.33302254C>ACA405275553CEBPAc.161G>T (p.Gly54Val)
c.-197G>T (n.-197G>T)
c.266G>T (p.Gly89Val)
c.119G>T (p.Gly40Val)
dbSNP gnomAD v4
19g.33302254C>GCA405275555CEBPAc.161G>C (p.Gly54Ala)
c.-197G>C (n.-197G>C)
c.266G>C (p.Gly89Ala)
c.119G>C (p.Gly40Ala)
gnomAD v4
19g.33302254C>TCA405275554CEBPAc.161G>A (p.Gly54Asp)
c.-197G>A (n.-197G>A)
c.266G>A (p.Gly89Asp)
c.119G>A (p.Gly40Asp)
dbSNP gnomAD v4
19g.33302255delCA507007617CEBPAc.161del (p.Gly54AlafsTer?)
c.-197del (n.-197del)
c.266del (p.Gly89AlafsTer?)
c.119del (p.Gly40AlafsTer?)
COSMIC
19g.33302254_33302256delinsAACA645612864CEBPAc.159_161delinsTT (p.Gly54SerfsTer?)
c.-199_-197delinsTT (n.-199_-197delinsTT)
c.264_266delinsTT (p.Gly89SerfsTer?)
c.117_119delinsTT (p.Gly40SerfsTer?)
COSMIC
19g.33302254_33302258delinsGCA645612863CEBPAc.157_161delinsC (p.Gly53ProfsTer?)
c.-201_-197delinsC (n.-201_-197delinsC)
c.262_266delinsC (p.Gly88ProfsTer?)
c.115_119delinsC (p.Gly39ProfsTer?)
COSMIC
19g.33302256_33302259delCA645612862CEBPAc.158_161del (p.Gly53AlafsTer?)
c.-200_-197del (n.-200_-197del)
c.263_266del (p.Gly88AlafsTer?)
c.116_119del (p.Gly39AlafsTer?)
gnomAD v4 COSMIC
19g.33302254_33302255insTCA645612865CEBPAc.160_161insA (p.Gly54GlufsTer?)
c.-198_-197insA (n.-198_-197insA)
c.265_266insA (p.Gly89GlufsTer?)
c.118_119insA (p.Gly40GlufsTer?)
COSMIC
19g.33302255C>ACA9363717CEBPAc.160G>T (p.Gly54Cys)
c.-198G>T (n.-198G>T)
c.265G>T (p.Gly89Cys)
c.118G>T (p.Gly40Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.33302255C=CA2332660406CEBPAc.160G= (p.Gly54=)
c.-198G= (n.-198G=)
c.265G= (p.Gly89=)
c.118G= (p.Gly40=)

Number of alleles fetched