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CodeSystem: GenomOncology Mutation Types
| Official URL: http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem
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Version:
0.2.0
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Active
as of 2024-12-11
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Computable Name: MutationType |
Mutation types for variants defined by GenomOncology.
This Code system is referenced in the content logical definition of the following value sets:
This code system http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem defines the following codes:
| Code | Display |
| promoter |
Promoter |
| start-codon |
Start Codon |
| splice-acceptor-site |
Splice Acceptor Site |
| splice-donor-site |
Splice Donor Site |
| intronic |
Intronic |
| splice-region |
Splice Region |
| 5'UTR |
5' UTR |
| 3'UTR |
3' UTR |
| substitution-coding-silent |
Substitution - coding silent |
| nonstop-extension |
Nonstop extension |
| substitution-nonsense |
Substitution - Nonsense |
| substitution-missense |
Substitution - Missense |
| deletion-in-frame |
Deletion - In frame |
| insertion-in-frame |
Insertion - In frame |
| complex-deletion-inframe |
Complex - deletion inframe |
| complex-insertion-inframe |
Complex - insertion inframe |
| complex-compound-substitution |
Complex - compound substitution |
| frameshift |
Frameshift |
| amplification |
Amplification |
| loss |
Loss |
| fusion |
Fusion |
| itd |
ITD |
| exon-skipping |
Exon Skipping |