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Table 1 The gene mutations detected via NGS in the patient with RDD

From: An extremely rare case of Rosai-Dorfman disease in the spleen

Gene

Mutation

Mutation abundance (%)

ATM

Exon16, c.2462delG, p.S821fs

13.95

 

Exon26, c.3805A>C, p.K1269Q

14.80

NFKBIA

Exon6, c.946A>G, p.T316A

11.85

FAT1

Exon8, c.4516C>T, p.R1506C

14.81

MLH1

Exon13, c.1467A>C, p.E489D

13.87

CUL3

Exon4, c.382C>G, p.R128G

11.71

RPTOR

Intron19, c.2252+5G>C

12.42