Table 2

SF3B1 mutation type and SF3B1 mutant allele burden

SF3B1 mutationsNo. of patients with mutationProportion of patients with mutation as a percentage of all mutated casesMutant allele burden, %, median (range)
K700E 97   
Codon 700 97 57.7 38.4 (7.5-70.3) 
K666R   
K666N   
K666Q   
K666T   
K666M   
Codon 666 18 10.7 44.6 (17.1-62.7) 
H662Q 15   
H662D   
H662Y   
Codon 662 17 10.1 39.1 (7.0-52.1) 
E622D 12   
Codon 622 12 7.1 39.4 (20.2-45.3) 
R625L   
R625C   
R625G   
Codon 625 10 6.0 37.5 (10.6-45.1) 
D781G   
E592K   
A744P   
E491G   
R590K   
N626D   
V701F   
V701I   
G740R   
A1188V   
Miscellaneous codons 14 8.4 36.4 (5.4-50.0) 
SF3B1 mutationsNo. of patients with mutationProportion of patients with mutation as a percentage of all mutated casesMutant allele burden, %, median (range)
K700E 97   
Codon 700 97 57.7 38.4 (7.5-70.3) 
K666R   
K666N   
K666Q   
K666T   
K666M   
Codon 666 18 10.7 44.6 (17.1-62.7) 
H662Q 15   
H662D   
H662Y   
Codon 662 17 10.1 39.1 (7.0-52.1) 
E622D 12   
Codon 622 12 7.1 39.4 (20.2-45.3) 
R625L   
R625C   
R625G   
Codon 625 10 6.0 37.5 (10.6-45.1) 
D781G   
E592K   
A744P   
E491G   
R590K   
N626D   
V701F   
V701I   
G740R   
A1188V   
Miscellaneous codons 14 8.4 36.4 (5.4-50.0) 

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