WNK1

Relevance tier by entity

Entity Tier Description
BL 1 high-confidence BL gene
DLBCL 2 relevance in DLBCL not firmly established

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 6.70
BL Thomas cohort 6.80
BL Panea cohort 11.90
DLBCL GAMBL genomes 4.59
DLBCL Schmitz cohort 5.11
DLBCL Reddy cohort 3.70
DLBCL Chapuy cohort 2.14

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 3.429 0
DLBCL No No 1.812 0
FL No No 3.487 0

[!NOTE] First described in BL in 2023 by Thomas N. First described in DLBCL in 2021 by Hübschmann D

## WNK1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr12 968467 G>A R486Q

View coding variants in ProteinPaint hg19 or hg38

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View all variants in GenomePaint hg19 or hg38

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