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Class Mutations Reference
Colleen Reilly edited this page Oct 29, 2024
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1 revision
| CLASS | LABEL |
|---|---|
| M | MISSENSE |
| E | EXON |
| F | FRAMESHIFT |
| N | NONSENSE |
| S | SILENT |
| D | PROTEINDEL |
| I | PROTEININS |
| ProteinAltering | PROTEINALTERING |
| P | SPLICE_REGION |
| L | SPLICE |
| Intron | INTRON |
| Blank | Not tested |
| WT | Wildtype |
| ITD | ITD |
| DEL | DELETION, intragenic |
| NLOSS | N-terminus loss |
| CLOSS | C-terminus loss |
| Utr3 | UTR_3 |
| Utr5 | UTR_5 |
| X | NONSTANDARD |
| noncoding | NONCODING |
| Fuserna | Fusion transcript |
| SV | Structural variation |
| CNV_amp | Copy number gain |
| CNV_loss | Copy number loss |
| CNV_loh | LOH |
| snv | SNV |
| mnv | MNV |
| insertion | Sequence insertion |
| deletion | Sequence deletion |