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Exon 18 mutations are extremely rare comprising of 4.1% of all EGFR mutations and the delE709_T710insD mutation accounts for only 0.16% of mutations when occurring as a sole mutation, however, the frequency can vary with the kit utilized for testing.
FHL5 with STXBP2 mutation accounts for only 6%, and no FHL4 patients have yet been found in Japan.
SOD1H46R mutation accounts for a mild form of familial ALS that was originally identified in Japanese kindred [32].
37 This same mutation accounts for 34% of Dutch cases.
KRAS mutation accounts for 86 % of all RAS mutations [ 26].
This BRAF mutation accounts for > 90% of the BRAF mutations found in melanoma and thyroid cancer.
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The D469del mutation, used in this study, is the most common PSACH mutation accounting for approximately 30% of cases [34].
To prove the ΔCS mutation accounted for the accelerated loss of RGCs via the Fas receptor, we intercrossed ΔCS mice with Fas-deficient lpr mice.
In the initial study by Davies et al. [ 1], the p.V600E mutation accounted for more than 90% of BRAF mutations.
The mutation accounted for a significant proportion of the phenotypic variance in muscle score and calving difficulty.
Of these, exon 19 deletions and the exon 21 L858R point mutation account for more than 80% of mutations detected in tumors with EGFR mutations [ 2, 3].
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