Class Mutations Reference - stjude/proteinpaint GitHub Wiki
| 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 |
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