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Table 2 Genes sorted by total number of ESR gain or loss mutations

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

Gene No of ESR gains Percentage of
  and losses gene
F8 221 28.4
CFTR 173 30.1
LDLR 143 27.1
FBN1 135 24.9
DMD 120 45.8
F9 101 32.8
NF1 89 39.6
COL4A5 84 43.5
PAH 79 23.0
GLA 69 34.8
OTC 66 28.9
BTK 64 25.7
BRCA1 61 35.9
ATP7B 60 25.5
ATM 58 34.3
MEN1 58 37.2
ABCA4 56 19.0
MLH1 55 35.7
COL7A1 53 28.3
CYBB 53 40.2
MSH2 51 40.5
COL1A1 49 21.1
GCK 48 28.2
TSC2 47 30.3
COL1A2 45 26.0
MYH7 45 23.9
  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.