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Table 1 Genes sorted by percentage of ESR loss or gain mutations per gene (for genes with more than 10 such mutations)

From: Exon identity crisis: disease-causing mutations that disrupt the splicing code

Gene Number of ESR Percentage of
  loss/gain mutations mutations in gene
CEP290 18 62.1
CHM 14 56.0
FGA 11 52.4
AGL 12 52.2
PAX3 12 50.0
LAMB3 13 48.1
BRAF 11 47.8
NF2 35 47.3
NIPBL 22 46.8
DMD 120 45.8
EFNB1 12 44.4
KRIT1 16 44.4
CYP27A1 11 44.0
COL4A5 84 43.5
EXT1 18 42.9
TSC1 17 42.5
ALB 21 42.0
EDA 12 41.4
IL2RG 28 41.2
APC 32 41.0
F10 15 40.5
MSH2 51 40.5
CYBB 53 40.2
FECH 12 40.0
NF1 89 39.6
BRCA2 35 38.9
  1. The table shows genes with mutations that cause the loss or gain of a disease-enriched ESR, based on data from [68]. Cancer-associated tumor suppressor genes from the Cancer Census [69] and oncogenes are in bold.