Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.33302026_33302397del | CA645612699 | CEBPA | c.23_394del (p.Glu8_Tyr131del) c.-335_37del c.128_499del (p.Glu43_Tyr166del) c.-20_352del | COSMIC |
19 | g.33302237_33302256del | CA645612841 | CEBPA | c.161_180del (p.Gly54ValfsTer?) c.-197_-178del (n.-197_-178del) c.266_285del (p.Gly89ValfsTer?) c.119_138del (p.Gly40ValfsTer?) | COSMIC |
19 | g.33302249_33302250insAGAAGGAGTCGCA | CA645612852 | CEBPA | c.170_171insCTCCTTCTTGCGA (p.Glu57AspfsTer?) c.-188_-187insCTCCTTCTTGCGA (n.-188_-187insCTCCTTCTTGCGA) c.275_276insCTCCTTCTTGCGA (p.Glu92AspfsTer?) c.128_129insCTCCTTCTTGCGA (p.Glu43AspfsTer?) | COSMIC |
19 | g.33302248_33302263del | CA645612853 | CEBPA | c.154_169del (p.Leu52SerfsTer?) c.-204_-189del (n.-204_-189del) c.259_274del (p.Leu87SerfsTer?) c.112_127del (p.Leu38SerfsTer?) | COSMIC |
19 | g.33302249_33302262del | CA645612854 | CEBPA | c.155_168del (p.Leu52ArgfsTer?) c.-203_-190del (n.-203_-190del) c.260_273del (p.Leu87ArgfsTer?) c.113_126del (p.Leu38ArgfsTer?) | COSMIC |
19 | g.33302248C>A | CA405275540 | CEBPA | c.167G>T (p.Cys56Phe) c.-191G>T (n.-191G>T) c.272G>T (p.Cys91Phe) c.125G>T (p.Cys42Phe) | gnomAD v4 |
19 | g.33302248C>G | CA405275541 | CEBPA | c.167G>C (p.Cys56Ser) c.-191G>C (n.-191G>C) c.272G>C (p.Cys91Ser) c.125G>C (p.Cys42Ser) | |
19 | g.33302248C>T | CA405275542 | CEBPA | c.167G>A (p.Cys56Tyr) c.-191G>A (n.-191G>A) c.272G>A (p.Cys91Tyr) c.125G>A (p.Cys42Tyr) | gnomAD v4 |
19 | g.33302249_33302267del | CA645612855 | CEBPA | c.149_167del (p.Glu50AlafsTer?) c.-209_-191del (n.-209_-191del) c.254_272del (p.Glu85AlafsTer?) c.107_125del (p.Glu36AlafsTer?) | COSMIC |
19 | g.33302249_33302268del | CA645612856 | CEBPA | c.148_167del (p.Glu50ArgfsTer?) c.-210_-191del (n.-210_-191del) c.253_272del (p.Glu85ArgfsTer?) c.106_125del (p.Glu36ArgfsTer?) | COSMIC |
19 | g.33302249A>C | CA405275543 | CEBPA | c.166T>G (p.Cys56Gly) c.-192T>G (n.-192T>G) c.271T>G (p.Cys91Gly) c.124T>G (p.Cys42Gly) | |
19 | g.33302249A>G | CA405275544 | CEBPA | c.166T>C (p.Cys56Arg) c.-192T>C (n.-192T>C) c.271T>C (p.Cys91Arg) c.124T>C (p.Cys42Arg) | gnomAD v4 |
19 | g.33302249A>T | CA405275545 | CEBPA | c.166T>A (p.Cys56Ser) c.-192T>A (n.-192T>A) c.271T>A (p.Cys91Ser) c.124T>A (p.Cys42Ser) | ClinVar gnomAD v4 |
19 | g.33302249dup | CA645612857 | CEBPA | c.166dup (p.Cys56LeufsTer?) c.-192dup (n.-192dup) c.271dup (p.Cys91LeufsTer?) c.124dup (p.Cys42LeufsTer?) | COSMIC |
19 | g.33302251_33302252insAGCAGTCGCAAGA | CA645612858 | CEBPA | c.166_167insTGCGACTGCTTCT (p.Cys56LeufsTer?) c.-192_-191insTGCGACTGCTTCT (n.-192_-191insTGCGACTGCTTCT) c.271_272insTGCGACTGCTTCT (p.Cys91LeufsTer?) c.124_125insTGCGACTGCTTCT (p.Cys42LeufsTer?) | COSMIC |
19 | g.33302250G>A | CA507007608 | CEBPA | c.165C>T (p.Ile55=) c.-193C>T (n.-193C>T) c.270C>T (p.Ile90=) c.123C>T (p.Ile41=) | ClinVar dbSNP gnomAD v4 |
19 | g.33302250G>C | CA405275546 | CEBPA | c.165C>G (p.Ile55Met) c.-193C>G (n.-193C>G) c.270C>G (p.Ile90Met) c.123C>G (p.Ile41Met) | |
19 | g.33302250G= | CA2332660404 | CEBPA | c.165C= (p.Ile55=) c.-193C= (n.-193C=) c.270C= (p.Ile90=) c.123C= (p.Ile41=) | |
19 | g.33302250G>T | CA507007610 | CEBPA | c.165C>A (p.Ile55=) c.-193C>A (n.-193C>A) c.270C>A (p.Ile90=) c.123C>A (p.Ile41=) | gnomAD v4 |
19 | g.33302250_33302251insGG | CA645612859 | CEBPA | c.165_166insCC (p.Cys56ProfsTer?) c.-193_-192insCC (n.-193_-192insCC) c.270_271insCC (p.Cys91ProfsTer?) c.123_124insCC (p.Cys42ProfsTer?) | COSMIC |
19 | g.33302251_33302269del | CA658795201 | CEBPA | c.147_165del (p.Glu50AlafsTer?) c.-211_-193del (n.-211_-193del) c.252_270del (p.Glu85AlafsTer?) c.105_123del (p.Glu36AlafsTer?) | ClinVar dbSNP |
19 | g.33302251A>C | CA405275547 | CEBPA | c.164T>G (p.Ile55Ser) c.-194T>G (n.-194T>G) c.269T>G (p.Ile90Ser) c.122T>G (p.Ile41Ser) | |
19 | g.33302251A>G | CA405275548 | CEBPA | c.164T>C (p.Ile55Thr) c.-194T>C (n.-194T>C) c.269T>C (p.Ile90Thr) c.122T>C (p.Ile41Thr) | gnomAD v4 COSMIC |
19 | g.33302251A>T | CA405275549 | CEBPA | c.164T>A (p.Ile55Asn) c.-194T>A (n.-194T>A) c.269T>A (p.Ile90Asn) c.122T>A (p.Ile41Asn) | |
19 | g.33302251_33302260del | CA2695202676 | CEBPA | c.155_164del (p.Leu52ProfsTer?) c.-203_-194del (n.-203_-194del) c.260_269del (p.Leu87ProfsTer?) c.113_122del (p.Leu38ProfsTer?) | |
19 | g.33302251_33302281delinsATGCCGCCCAGCGGCTCCGGGGCGGCAGGTG | CA2332660405 | CEBPA | c.134_164delinsCACCTGCCGCCCCGGAGCCGCTGGGCGGCAT (p.Pro45=) c.-224_-194delinsCACCTGCCGCCCCGGAGCCGCTGGGCGGCAT (n.-224_-194delinsCACCTGCCGCCCCGGAGCCGCTGGGCGGCAT) c.239_269delinsCACCTGCCGCCCCGGAGCCGCTGGGCGGCAT (p.Pro80=) c.92_122delinsCACCTGCCGCCCCGGAGCCGCTGGGCGGCAT (p.Pro31=) | |
19 | g.33302252T>A | CA405275552 | CEBPA | c.163A>T (p.Ile55Phe) c.-195A>T (n.-195A>T) c.268A>T (p.Ile90Phe) c.121A>T (p.Ile41Phe) | |
19 | g.33302252T>C | CA405275551 | CEBPA | c.163A>G (p.Ile55Val) c.-195A>G (n.-195A>G) c.268A>G (p.Ile90Val) c.121A>G (p.Ile41Val) | gnomAD v4 |
19 | g.33302252T>G | CA405275550 | CEBPA | c.163A>C (p.Ile55Leu) c.-195A>C (n.-195A>C) c.268A>C (p.Ile90Leu) c.121A>C (p.Ile41Leu) | dbSNP |
19 | g.33302252_33302281del | CA633069973 | CEBPA | c.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 |
19 | g.33302253G>A | CA507007614 | CEBPA | c.162C>T (p.Gly54=) c.-196C>T (n.-196C>T) c.267C>T (p.Gly89=) c.120C>T (p.Gly40=) | ClinVar dbSNP gnomAD v4 |
19 | g.33302253G>C | CA507007615 | CEBPA | c.162C>G (p.Gly54=) c.-196C>G (n.-196C>G) c.267C>G (p.Gly89=) c.120C>G (p.Gly40=) | |
19 | g.33302253G>T | CA507007616 | CEBPA | c.162C>A (p.Gly54=) c.-196C>A (n.-196C>A) c.267C>A (p.Gly89=) c.120C>A (p.Gly40=) | gnomAD v4 |
19 | g.33302253_33302257del | CA645612860 | CEBPA | c.158_162del (p.Gly53AspfsTer?) c.-200_-196del (n.-200_-196del) c.263_267del (p.Gly88AspfsTer?) c.116_120del (p.Gly39AspfsTer?) | COSMIC |
19 | g.33302255_33302262del | CA645612861 | CEBPA | c.155_162del (p.Leu52HisfsTer?) c.-203_-196del (n.-203_-196del) c.260_267del (p.Leu87HisfsTer?) c.113_120del (p.Leu38HisfsTer?) | COSMIC |
19 | g.33302254C>A | CA405275553 | CEBPA | c.161G>T (p.Gly54Val) c.-197G>T (n.-197G>T) c.266G>T (p.Gly89Val) c.119G>T (p.Gly40Val) | dbSNP gnomAD v4 |
19 | g.33302254C>G | CA405275555 | CEBPA | c.161G>C (p.Gly54Ala) c.-197G>C (n.-197G>C) c.266G>C (p.Gly89Ala) c.119G>C (p.Gly40Ala) | gnomAD v4 |
19 | g.33302254C>T | CA405275554 | CEBPA | c.161G>A (p.Gly54Asp) c.-197G>A (n.-197G>A) c.266G>A (p.Gly89Asp) c.119G>A (p.Gly40Asp) | dbSNP gnomAD v4 |
19 | g.33302255del | CA507007617 | CEBPA | c.161del (p.Gly54AlafsTer?) c.-197del (n.-197del) c.266del (p.Gly89AlafsTer?) c.119del (p.Gly40AlafsTer?) | COSMIC |
19 | g.33302254_33302256delinsAA | CA645612864 | CEBPA | c.159_161delinsTT (p.Gly54SerfsTer?) c.-199_-197delinsTT (n.-199_-197delinsTT) c.264_266delinsTT (p.Gly89SerfsTer?) c.117_119delinsTT (p.Gly40SerfsTer?) | COSMIC |
19 | g.33302254_33302258delinsG | CA645612863 | CEBPA | c.157_161delinsC (p.Gly53ProfsTer?) c.-201_-197delinsC (n.-201_-197delinsC) c.262_266delinsC (p.Gly88ProfsTer?) c.115_119delinsC (p.Gly39ProfsTer?) | COSMIC |
19 | g.33302256_33302259del | CA645612862 | CEBPA | c.158_161del (p.Gly53AlafsTer?) c.-200_-197del (n.-200_-197del) c.263_266del (p.Gly88AlafsTer?) c.116_119del (p.Gly39AlafsTer?) | gnomAD v4 COSMIC |
19 | g.33302254_33302255insT | CA645612865 | CEBPA | c.160_161insA (p.Gly54GlufsTer?) c.-198_-197insA (n.-198_-197insA) c.265_266insA (p.Gly89GlufsTer?) c.118_119insA (p.Gly40GlufsTer?) | COSMIC |
19 | g.33302255C>A | CA9363717 | CEBPA | c.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 |
19 | g.33302255C= | CA2332660406 | CEBPA | c.160G= (p.Gly54=) c.-198G= (n.-198G=) c.265G= (p.Gly89=) c.118G= (p.Gly40=) | |
19 | g.33302255C>G | CA405275557 | CEBPA | c.160G>C (p.Gly54Arg) c.-198G>C (n.-198G>C) c.265G>C (p.Gly89Arg) c.118G>C (p.Gly40Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.33302255C>T | CA405275556 | CEBPA | c.160G>A (p.Gly54Ser) c.-198G>A (n.-198G>A) c.265G>A (p.Gly89Ser) c.118G>A (p.Gly40Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.33302256G>A | CA507007619 | CEBPA | c.159C>T (p.Gly53=) c.-199C>T (n.-199C>T) c.264C>T (p.Gly88=) c.117C>T (p.Gly39=) | ClinVar dbSNP gnomAD v4 |
19 | g.33302256G>C | CA507007621 | CEBPA | c.159C>G (p.Gly53=) c.-199C>G (n.-199C>G) c.264C>G (p.Gly88=) c.117C>G (p.Gly39=) | |
19 | g.33302256G= | CA2332660407 | CEBPA | c.159C= (p.Gly53=) c.-199C= (n.-199C=) c.264C= (p.Gly88=) c.117C= (p.Gly39=) |