---
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
---
[[_TOC_]]


## Relevance tier by entity

|Entity|Tier|Description                           |
|:------:|:----:|--------------------------------------|
|![BL](images/icons/BL_tier2.png)    |2   |relevance in BL not firmly established[@burkhardtClinicalRelevanceMolecular2022]|

## Mutation incidence in large patient cohorts (GAMBL reanalysis)

|Entity|source               |frequency (%)|
|:------:|:---------------------:|:-------------:|
|BL    |GAMBL genomes+capture|28.64        |
|BL    |Thomas cohort        |   NA        |
|BL    |Panea cohort         |   NA        |

## Mutation pattern and selective pressure estimates

[[include:dnds_TTN.md]]


## TTN Hotspots

| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | 
 | :---:| :---: | :--: | :---: |
| chr2 | 179638249 | C>T | E2512K |

[[include:browser_TTN.md]]

## Expression
![](images/gene_expression/TTN_by_pathology.svg)
<!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b -->
<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->

[[include:mermaid_TTN.md]]

## References