Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Jan 14, 2022; 10(2): 631-642
Published online Jan 14, 2022. doi: 10.12998/wjcc.v10.i2.631
Table 1 Mutations of the specimen
Gene
Type
Nucleotide
Protein
Frequency, %
Chromosome
Exon
ANGPT2Missensec.52G > Ap.Ala18Thr29.681/9
CD276Missensec.91G > Tp.Val31Phe59.4153/10
CHD2Missensec.1972T > G p.Ser658 Ala59.21516/39
CHEK1Missensec.497A > T p.Lys166Met 32.4116/13
DICER1Missensec.3923A > G p.Asp1308Gly 37.31421/27
DICER1Missensec.5439G > T p.Glu1813Asp32.41425/27
DICER1frameshiftc.2031dup p.Ser678L eufsTer1455.61412/27
F8missensec.3347T > A p.Phe1116Tyr36.4X14/26
FAM46Cmissensec.476A >G p.Asn159Ser56.412/2
FAT4missensec.7269A > C p.Leu2423Phe70.348/17
FAT4missensec.12512G >Ap.Cys4171Tyr21.5414/17
FGFR4missensec.1463G > A p.Gly488Asp55.6510/16
GID4missensec.785T > G p.Phe262Cys92.9175/6
GNASmissensec.981G > Tp.Glu327Asp22.32012/13
HDAC9missensec.2704G > Cp.Ala902Pro58.7721/25
IGF2Rmissensec.2842A > T p.Asn94832.2621/48
KLF5missensec.757A > Cp.Asn253His41.3132/4
MED12missensec.4809A > Tp.Gln1603His36.5X35/45
MSH3missensec.2404G > Tp.Asp802Tyr19.7517/24
NF1frameshiftc.3053_306 7delinsCAGTp.Leu1018 SerfsTer789.31723/58
NOTCH2missensec.5854G > C p.Ala1952Pro35.8132/34
PALLDmissensec.207T > Gp.Ser69Arg70.542/21
PDK1missensec.374A > Tp.Lys125Met97.223/12
POLEmissensec.3218G > Ap.Gly1073Glu56.41226/49
PRKDCmissensec.1413A > Tp.Lys471Asn66.1813/86
RARGmissensec.744G > Tp.Leu248Phe24.7127/10
RICTORmissensec.3786A > Tp.Lys1262Asn36.3531/38
ROBO1missensec.3240G > Tp.Gln1080His28.2323/31
ROBO1missensec.3736G > Tp.Ala1246Ser31.8326/31
SETD2missensec.4407G > Cp.Met1469Ile28.333/21
SLC34A2missensec.225G > Cp.Gln75His22.843/13
SLIT2missensec.2425A > Tp.Ser809Cys66.1424/37
SMARCA2missensec.394G > Ap.Glu132Lys22.994/34
STAT4missensec.1450A > Tp.Asn484Tyr98.4217/24
TMEM127missensec.380G > Tp.Arg127Leu36.523/4
TP53missensec.751A > Tp.Ile251Phe90.3177/11
TRPS1missensec.2206A > Gp.Thr736Ala31.485/7
UPF1missensec.1880A > Tp.Lys627Met45.11914/24