| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.33301893_33302183del | CA645612682 | CEBPA | c.239_529del (p.Asp80_Ala176del) c.-119_172del c.344_634del (p.Asp115_Ala211del) c.197_487del (p.Asp66_Ala162del) | COSMIC |
| 19 | g.33302010_33302161del | CA645612697 | CEBPA | c.260_411del (p.Gln87LeufsTer?) c.-98_54del c.365_516del (p.Gln122LeufsTer?) c.218_369del (p.Gln73LeufsTer?) | COSMIC |
| 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.33302077_33302130del | CA2584317493 | CEBPA | c.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 |
| 19 | g.33302085_33302138del | CA2584317494 | CEBPA | c.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 |
| 19 | g.33302118_33302120dup | CA9363714 | CEBPA | c.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 |
| 19 | g.33302115_33302120dup | CA307844366 | CEBPA | c.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 |
| 19 | g.33302112_33302120dup | CA307844371 | CEBPA | c.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 |
| 19 | g.33302118_33302120del | CA405275216 | CEBPA | c.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 |
| 19 | g.33302115_33302120del | CA633069972 | CEBPA | c.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 |
| 19 | g.33302112_33302120del | CA307844369 | CEBPA | c.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 |
| 19 | g.33302103_33302127del | CA645612737 | CEBPA | c.288_312del (p.Pro97ThrfsTer?) c.-70_-46del (n.-70_-46del) c.393_417del (p.Pro132ThrfsTer?) c.246_270del (p.Pro83ThrfsTer?) | COSMIC |
| 19 | g.33302106_33302130del | CA645612739 | CEBPA | c.287_311del (p.Gly96AlafsTer?) c.-71_-47del (n.-71_-47del) c.392_416del (p.Gly131AlafsTer?) c.245_269del (p.Gly82AlafsTer?) | COSMIC |
| 19 | g.33302109_33302119delinsTTGGG | CA645612740 | CEBPA | c.296_306delinsCCCAA (p.Gly99_Gly102delinsAlaGln) c.-62_-52delinsCCCAA (n.-62_-52delinsCCCAA) c.401_411delinsCCCAA (p.Gly134_Gly137delinsAlaGln) c.254_264delinsCCCAA (p.Gly85_Gly88delinsAlaGln) | COSMIC |
| 19 | g.33302116_33302122del | CA645612741 | CEBPA | c.296_302del (p.Gly99AlafsTer?) c.-62_-56del (n.-62_-56del) c.401_407del (p.Gly134AlafsTer?) c.254_260del (p.Gly85AlafsTer?) | COSMIC |
| 19 | g.33302114C>A | CA405275237 | CEBPA | c.301G>T (p.Gly101Cys) c.-57G>T (n.-57G>T) c.406G>T (p.Gly136Cys) c.259G>T (p.Gly87Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.33302114C= | CA2332660339 | CEBPA | c.301G= (p.Gly101=) c.-57G= (n.-57G=) c.406G= (p.Gly136=) c.259G= (p.Gly87=) | |
| 19 | g.33302114C>G | CA405275238 | CEBPA | c.301G>C (p.Gly101Arg) c.-57G>C (n.-57G>C) c.406G>C (p.Gly136Arg) c.259G>C (p.Gly87Arg) | |
| 19 | g.33302114C>T | CA405275239 | CEBPA | c.301G>A (p.Gly101Ser) c.-57G>A (n.-57G>A) c.406G>A (p.Gly136Ser) c.259G>A (p.Gly87Ser) | ClinVar gnomAD v4 |
| 19 | g.33302115_33302116del | CA2584317498 | CEBPA | c.300_301del (p.Gly101ArgfsTer6) c.-58_-57del (n.-58_-57del) c.405_406del (p.Gly136ArgfsTer6) c.258_259del (p.Gly87ArgfsTer6) | gnomAD v4 |
| 19 | g.33302114_33302115insT | CA2332660340 | CEBPA | c.300_301insA (p.Gly101ArgfsTer7) c.-58_-57insA (n.-58_-57insA) c.405_406insA (p.Gly136ArgfsTer7) c.258_259insA (p.Gly87ArgfsTer7) | dbSNP gnomAD v4 |
| 19 | g.33302115del | CA2584317499 | CEBPA | c.300del (p.Gly101AlafsTer?) c.-58del (n.-58del) c.405del (p.Gly136AlafsTer?) c.258del (p.Gly87AlafsTer?) | gnomAD v4 |
| 19 | g.33302115G>A | CA507007318 | CEBPA | c.300C>T (p.Gly100=) c.-58C>T (n.-58C>T) c.405C>T (p.Gly135=) c.258C>T (p.Gly86=) | dbSNP gnomAD v4 |
| 19 | g.33302115G>C | CA507007319 | CEBPA | c.300C>G (p.Gly100=) c.-58C>G (n.-58C>G) c.405C>G (p.Gly135=) c.258C>G (p.Gly86=) | dbSNP gnomAD v4 |
| 19 | g.33302115G>T | CA507007320 | CEBPA | c.300C>A (p.Gly100=) c.-58C>A (n.-58C>A) c.405C>A (p.Gly135=) c.258C>A (p.Gly86=) | ClinVar gnomAD v4 |
| 19 | g.33302116C>A | CA405275240 | CEBPA | c.299G>T (p.Gly100Val) c.-59G>T (n.-59G>T) c.404G>T (p.Gly135Val) c.257G>T (p.Gly86Val) | gnomAD v4 |
| 19 | g.33302116C>G | CA405275241 | CEBPA | c.299G>C (p.Gly100Ala) c.-59G>C (n.-59G>C) c.404G>C (p.Gly135Ala) c.257G>C (p.Gly86Ala) | gnomAD v4 |
| 19 | g.33302116C>T | CA405275242 | CEBPA | c.299G>A (p.Gly100Asp) c.-59G>A (n.-59G>A) c.404G>A (p.Gly135Asp) c.257G>A (p.Gly86Asp) | ClinVar gnomAD v4 |
| 19 | g.33302119_33302122dup | CA645612742 | CEBPA | c.296_299dup (p.Gly101ArgfsTer8) c.-62_-59dup (n.-62_-59dup) c.401_404dup (p.Gly136ArgfsTer8) c.254_257dup (p.Gly87ArgfsTer8) | COSMIC |
| 19 | g.33302116_33302123delinsCCGCCCGT | CA2332660341 | CEBPA | c.292_299delinsACGGGCGG (p.Thr98=) c.-66_-59delinsACGGGCGG (n.-66_-59delinsACGGGCGG) c.397_404delinsACGGGCGG (p.Thr133=) c.250_257delinsACGGGCGG (p.Thr84=) | |
| 19 | g.33302117C>A | CA405275243 | CEBPA | c.298G>T (p.Gly100Cys) c.-60G>T (n.-60G>T) c.403G>T (p.Gly135Cys) c.256G>T (p.Gly86Cys) | gnomAD v4 |
| 19 | g.33302117C= | CA2332660343 | CEBPA | c.298G= (p.Gly100=) c.-60G= (n.-60G=) c.403G= (p.Gly135=) c.256G= (p.Gly86=) | |
| 19 | g.33302117C>G | CA405275244 | CEBPA | c.298G>C (p.Gly100Arg) c.-60G>C (n.-60G>C) c.403G>C (p.Gly135Arg) c.256G>C (p.Gly86Arg) | ClinVar dbSNP |
| 19 | g.33302117C>T | CA405275245 | CEBPA | c.298G>A (p.Gly100Ser) c.-60G>A (n.-60G>A) c.403G>A (p.Gly135Ser) c.256G>A (p.Gly86Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.33302117_33302123del | CA2332660342 | CEBPA | c.292_298del (p.Thr98AlafsTer?) c.-66_-60del (n.-66_-60del) c.397_403del (p.Thr133AlafsTer?) c.250_256del (p.Thr84AlafsTer?) | dbSNP gnomAD v4 |
| 19 | g.33302118G>A | CA507007324 | CEBPA | c.297C>T (p.Gly99=) c.-61C>T (n.-61C>T) c.402C>T (p.Gly134=) c.255C>T (p.Gly85=) | dbSNP gnomAD v4 |
| 19 | g.33302118G>C | CA507007325 | CEBPA | c.297C>G (p.Gly99=) c.-61C>G (n.-61C>G) c.402C>G (p.Gly134=) c.255C>G (p.Gly85=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.33302118G= | CA2332660344 | CEBPA | c.297C= (p.Gly99=) c.-61C= (n.-61C=) c.402C= (p.Gly134=) c.255C= (p.Gly85=) | |
| 19 | g.33302118G>T | CA507007326 | CEBPA | c.297C>A (p.Gly99=) c.-61C>A (n.-61C>A) c.402C>A (p.Gly134=) c.255C>A (p.Gly85=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.33302119C>A | CA405275246 | CEBPA | c.296G>T (p.Gly99Val) c.-62G>T (n.-62G>T) c.401G>T (p.Gly134Val) c.254G>T (p.Gly85Val) | gnomAD v4 |
| 19 | g.33302119C>G | CA405275247 | CEBPA | c.296G>C (p.Gly99Ala) c.-62G>C (n.-62G>C) c.401G>C (p.Gly134Ala) c.254G>C (p.Gly85Ala) | |
| 19 | g.33302119C>T | CA405275248 | CEBPA | c.296G>A (p.Gly99Asp) c.-62G>A (n.-62G>A) c.401G>A (p.Gly134Asp) c.254G>A (p.Gly85Asp) | gnomAD v4 |
| 19 | g.33302119_33302121dup | CA1139666395 | CEBPA | c.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 |
| 19 | g.33302121del | CA2584317500 | CEBPA | c.296del (p.Gly99AlafsTer?) c.-62del (n.-62del) c.401del (p.Gly134AlafsTer?) c.254del (p.Gly85AlafsTer?) | gnomAD v4 |
| 19 | g.33302119_33302120insTTGG | CA645612744 | CEBPA | c.295_296insCCAA (p.Gly99AlafsTer10) c.-63_-62insCCAA (n.-63_-62insCCAA) c.400_401insCCAA (p.Gly134AlafsTer10) c.253_254insCCAA (p.Gly85AlafsTer10) | COSMIC |
| 19 | g.33302120C>A | CA405275249 | CEBPA | c.295G>T (p.Gly99Cys) c.-63G>T (n.-63G>T) c.400G>T (p.Gly134Cys) c.253G>T (p.Gly85Cys) | gnomAD v4 |
| 19 | g.33302120C= | CA2332660345 | CEBPA | c.295G= (p.Gly99=) c.-63G= (n.-63G=) c.400G= (p.Gly134=) c.253G= (p.Gly85=) | |
| 19 | g.33302120C>G | CA405275251 | CEBPA | c.295G>C (p.Gly99Arg) c.-63G>C (n.-63G>C) c.400G>C (p.Gly134Arg) c.253G>C (p.Gly85Arg) | |
| 19 | g.33302120C>T | CA405275250 | CEBPA | c.295G>A (p.Gly99Ser) c.-63G>A (n.-63G>A) c.400G>A (p.Gly134Ser) c.253G>A (p.Gly85Ser) | ClinVar dbSNP gnomAD v4 |
| 19 | g.33302120_33302123del | CA2547651011 | CEBPA | c.292_295del (p.Thr98AlafsTer?) c.-66_-63del (n.-66_-63del) c.397_400del (p.Thr133AlafsTer?) c.250_253del (p.Thr84AlafsTer?) |