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.33302294_33302354delCA2695228559CEBPAc.65_125del (p.Pro22LeufsTer?)
c.-293_-233del (n.-293_-233del)
c.170_230del (p.Pro57LeufsTer?)
c.23_83del (p.Pro8LeufsTer?)
19g.33302302_33302350delCA645612893CEBPAc.71_119del (p.His24ArgfsTer?)
c.-287_-239del (n.-287_-239del)
c.176_224del (p.His59ArgfsTer?)
c.29_77del (p.His10ArgfsTer?)
 COSMIC
19g.33302340_33302350delCA645612917CEBPAc.68_78del (p.Pro23GlnfsTer?)
c.-290_-280del (n.-290_-280del)
c.173_183del (p.Pro58GlnfsTer?)
c.26_36del (p.Pro9GlnfsTer?)
 COSMIC COSMIC
19g.33302341_33302353dupCA645612916CEBPAc.66_78dup (p.Ser27ProfsTer?)
c.-292_-280dup (n.-292_-280dup)
c.171_183dup (p.Ser62ProfsTer?)
c.24_36dup (p.Ser13ProfsTer?)
 COSMIC
19g.33302341_33302353delCA645612918CEBPAc.66_78del (p.Pro23AlafsTer?)
c.-292_-280del (n.-292_-280del)
c.171_183del (p.Pro58AlafsTer?)
c.24_36del (p.Pro9AlafsTer?)
 COSMIC
19g.33302346_33302347dupCA645612921CEBPAc.69_70dup (p.His24ArgfsTer?)
c.-289_-288dup (n.-289_-288dup)
c.174_175dup (p.His59ArgfsTer?)
c.27_28dup (p.His10ArgfsTer?)
 COSMIC COSMIC
19g.33302347_33302353dupCA645612923CEBPAc.64_70dup (p.His24ProfsTer?)
c.-294_-288dup (n.-294_-288dup)
c.169_175dup (p.His59ProfsTer?)
c.22_28dup (p.His10ProfsTer?)
 COSMIC
19g.33302346_33302347delinsCGCA2332660465CEBPAc.68_69delinsCG (p.Pro23=)
c.-290_-289delinsCG (n.-290_-289delinsCG)
c.173_174delinsCG (p.Pro58=)
c.26_27delinsCG (p.Pro9=)
19g.33302349_33302350insAGACGGGCA645612924CEBPAc.69_70insTCTCCCG (p.His24SerfsTer?)
c.-289_-288insTCTCCCG (n.-289_-288insTCTCCCG)
c.174_175insTCTCCCG (p.His59SerfsTer?)
c.27_28insTCTCCCG (p.His10SerfsTer?)
 COSMIC
19g.33302347G>ACA405275743CEBPAc.68C>T (p.Pro23Leu)
c.-290C>T (n.-290C>T)
c.173C>T (p.Pro58Leu)
c.26C>T (p.Pro9Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33302347G>CCA405275745CEBPAc.68C>G (p.Pro23Arg)
c.-290C>G (n.-290C>G)
c.173C>G (p.Pro58Arg)
c.26C>G (p.Pro9Arg)
 ClinVar gnomAD v4
19g.33302347G=CA2332660466CEBPAc.68C= (p.Pro23=)
c.-290C= (n.-290C=)
c.173C= (p.Pro58=)
c.26C= (p.Pro9=)
19g.33302347G>TCA405275744CEBPAc.68C>A (p.Pro23Gln)
c.-290C>A (n.-290C>A)
c.173C>A (p.Pro58Gln)
c.26C>A (p.Pro9Gln)
 ClinVar dbSNP gnomAD v4
19g.33302352dupCA342024CEBPAc.68dup (p.His24AlafsTer?)
c.-290dup (n.-290dup)
c.173dup (p.His59AlafsTer?)
c.26dup (p.His10AlafsTer?)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
19g.33302351_33302352dupCA645612929CEBPAc.67_68dup (p.His24ArgfsTer?)
c.-291_-290dup (n.-291_-290dup)
c.172_173dup (p.His59ArgfsTer?)
c.25_26dup (p.His10ArgfsTer?)
 COSMIC
19g.33302352delCA341467CEBPAc.68del (p.Pro23ArgfsTer?)
c.-290del (n.-290del)
c.173del (p.Pro58ArgfsTer?)
c.26del (p.Pro9ArgfsTer?)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
19g.33302351_33302352delCA645612925CEBPAc.67_68del (p.Pro23AlafsTer?)
c.-291_-290del (n.-291_-290del)
c.172_173del (p.Pro58AlafsTer?)
c.25_26del (p.Pro9AlafsTer?)
 COSMIC
19g.33302348_33302352delCA645612928CEBPAc.64_68del (p.Pro22AlafsTer?)
c.-294_-290del (n.-294_-290del)
c.169_173del (p.Pro57AlafsTer?)
c.22_26del (p.Pro8AlafsTer?)
 COSMIC
19g.33302347_33302365delinsAGCA645612927CEBPAc.50_68delinsCT (p.Ser17ThrfsTer?)
c.-308_-290delinsCT (n.-308_-290delinsCT)
c.155_173delinsCT (p.Ser52ThrfsTer?)
c.8_26delinsCT (p.Ser3ThrfsTer?)
 COSMIC
19g.33302347_33302382delinsGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCCA2332660467CEBPAc.33_68delinsGCGGCCCCCGATGAGCAGCCACCTGCAGAGCCCCCC (p.Pro11=)
c.-325_-290delinsGCGGCCCCCGATGAGCAGCCACCTGCAGAGCCCCCC (n.-325_-290delinsGCGGCCCCCGATGAGCAGCCACCTGCAGAGCCCCCC)
c.138_173delinsGCGGCCCCCGATGAGCAGCCACCTGCAGAGCCCCCC (p.Pro46=)
c.-10_26delinsGCGGCCCCCGATGAGCAGCCACCTGCAGAGCCCCCC
19g.33302347_33302348insCCA506913098CEBPAc.67_68insG (p.Pro23ArgfsTer?)
c.-291_-290insG (n.-291_-290insG)
c.172_173insG (p.Pro58ArgfsTer?)
c.25_26insG (p.Pro9ArgfsTer?)
19g.33302348G>ACA405275746CEBPAc.67C>T (p.Pro23Ser)
c.-291C>T (n.-291C>T)
c.172C>T (p.Pro58Ser)
c.25C>T (p.Pro9Ser)
 ClinVar dbSNP gnomAD v4
19g.33302348G>CCA405275747CEBPAc.67C>G (p.Pro23Ala)
c.-291C>G (n.-291C>G)
c.172C>G (p.Pro58Ala)
c.25C>G (p.Pro9Ala)
19g.33302348G=CA2332660468CEBPAc.67C= (p.Pro23=)
c.-291C= (n.-291C=)
c.172C= (p.Pro58=)
c.25C= (p.Pro9=)
19g.33302348G>TCA405275748CEBPAc.67C>A (p.Pro23Thr)
c.-291C>A (n.-291C>A)
c.172C>A (p.Pro58Thr)
c.25C>A (p.Pro9Thr)
 ClinVar dbSNP gnomAD v4
19g.33302348_33302349insCGCA645612930CEBPAc.67_68insGC (p.Pro23ArgfsTer?)
c.-291_-290insGC (n.-291_-290insGC)
c.172_173insGC (p.Pro58ArgfsTer?)
c.25_26insGC (p.Pro9ArgfsTer?)
 COSMIC
19g.33302348_33302382delinsAGGGTTAGGAACA1139666399CEBPAc.33_67delinsTTCCTAACCCT (p.Pro12SerfsTer2)
c.-325_-291delinsTTCCTAACCCT (n.-325_-291delinsTTCCTAACCCT)
c.138_172delinsTTCCTAACCCT (p.Pro47SerfsTer2)
c.-10_25delinsTTCCTAACCCT
 ClinVar dbSNP
19g.33302349G>ACA307844445CEBPAc.66C>T (p.Pro22=)
c.-292C>T (n.-292C>T)
c.171C>T (p.Pro57=)
c.24C>T (p.Pro8=)
 dbSNP gnomAD v4
19g.33302349G>CCA506913099CEBPAc.66C>G (p.Pro22=)
c.-292C>G (n.-292C>G)
c.171C>G (p.Pro57=)
c.24C>G (p.Pro8=)
19g.33302349G=CA2332660469CEBPAc.66C= (p.Pro22=)
c.-292C= (n.-292C=)
c.171C= (p.Pro57=)
c.24C= (p.Pro8=)
19g.33302349G>TCA506913100CEBPAc.66C>A (p.Pro22=)
c.-292C>A (n.-292C>A)
c.171C>A (p.Pro57=)
c.24C>A (p.Pro8=)
19g.33302350G>ACA405275750CEBPAc.65C>T (p.Pro22Leu)
c.-293C>T (n.-293C>T)
c.170C>T (p.Pro57Leu)
c.23C>T (p.Pro8Leu)
19g.33302350G>CCA405275749CEBPAc.65C>G (p.Pro22Arg)
c.-293C>G (n.-293C>G)
c.170C>G (p.Pro57Arg)
c.23C>G (p.Pro8Arg)
19g.33302350G=CA2332660470CEBPAc.65C= (p.Pro22=)
c.-293C= (n.-293C=)
c.170C= (p.Pro57=)
c.23C= (p.Pro8=)
19g.33302350G>TCA307844448CEBPAc.65C>A (p.Pro22His)
c.-293C>A (n.-293C>A)
c.170C>A (p.Pro57His)
c.23C>A (p.Pro8His)
 dbSNP gnomAD v3 gnomAD v4
19g.33302351G>ACA9363719CEBPAc.64C>T (p.Pro22Ser)
c.-294C>T (n.-294C>T)
c.169C>T (p.Pro57Ser)
c.22C>T (p.Pro8Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.33302351G>CCA405275751CEBPAc.64C>G (p.Pro22Ala)
c.-294C>G (n.-294C>G)
c.169C>G (p.Pro57Ala)
c.22C>G (p.Pro8Ala)
19g.33302351G=CA2332660471CEBPAc.64C= (p.Pro22=)
c.-294C= (n.-294C=)
c.169C= (p.Pro57=)
c.22C= (p.Pro8=)
19g.33302351G>TCA405275752CEBPAc.64C>A (p.Pro22Thr)
c.-294C>A (n.-294C>A)
c.169C>A (p.Pro57Thr)
c.22C>A (p.Pro8Thr)
 ClinVar dbSNP gnomAD v4
19g.33302351_33302352delinsACA916079885CEBPAc.63_64delinsT (p.Pro23ArgfsTer?)
c.-295_-294delinsT (n.-295_-294delinsT)
c.168_169delinsT (p.Pro58ArgfsTer?)
c.21_22delinsT (p.Pro9ArgfsTer?)
19g.33302351_33302352delinsTCA645612931CEBPAc.63_64delinsA (p.Ser21ArgfsTer?)
c.-295_-294delinsA (n.-295_-294delinsA)
c.168_169delinsA (p.Ser56ArgfsTer?)
c.21_22delinsA (p.Ser7ArgfsTer?)
 COSMIC
19g.33302352G>ACA506913101CEBPAc.63C>T (p.Ser21=)
c.-295C>T (n.-295C>T)
c.168C>T (p.Ser56=)
c.21C>T (p.Ser7=)
 ClinVar dbSNP gnomAD v4
19g.33302352G>CCA405275753CEBPAc.63C>G (p.Ser21Arg)
c.-295C>G (n.-295C>G)
c.168C>G (p.Ser56Arg)
c.21C>G (p.Ser7Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.33302352G=CA2332660472CEBPAc.63C= (p.Ser21=)
c.-295C= (n.-295C=)
c.168C= (p.Ser56=)
c.21C= (p.Ser7=)
19g.33302352G>TCA16616044CEBPAc.63C>A (p.Ser21Arg)
c.-295C>A (n.-295C>A)
c.168C>A (p.Ser56Arg)
c.21C>A (p.Ser7Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.33302356_33302370delCA645612932CEBPAc.49_63del (p.Ser17_Ser21del)
c.-309_-295del (n.-309_-295del)
c.154_168del (p.Ser52_Ser56del)
c.7_21del (p.Ser3_Ser7del)
 COSMIC
19g.33302353C>ACA307844453CEBPAc.62G>T (p.Ser21Ile)
c.-296G>T (n.-296G>T)
c.167G>T (p.Ser56Ile)
c.20G>T (p.Ser7Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.33302353C=CA2332660473CEBPAc.62G= (p.Ser21=)
c.-296G= (n.-296G=)
c.167G= (p.Ser56=)
c.20G= (p.Ser7=)
19g.33302353C>GCA405275754CEBPAc.62G>C (p.Ser21Thr)
c.-296G>C (n.-296G>C)
c.167G>C (p.Ser56Thr)
c.20G>C (p.Ser7Thr)
 dbSNP

Number of alleles fetched