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 |