Skip to main content

Table 1 Mutations detected both in GCT and AML

From: TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia

Gene

Accession no.

Chra

Exon

Nucleotide change

Amino acid change

Mutation type

VAF in GCT

VAF in AML

ASF1A

NM_014034

6

3

c.T231A

p.D77E

nonsynonymous SNVb

0.324

0.036

DLG2

NM_001142699

11

4

c.C140T

p.T47I

nonsynonymous SNV

0.468

0.215

EDRF1

NM_001202438

10

22

c.C3172T

p.H1058Y

nonsynonymous SNV

0.259

0.093

GOLGA8J

NM_001282472

15

12

c.G992A

p.R331H

nonsynonymous SNV

0.181

0.095

PCLO

NM_014510

7

13

c.T13947G

p.H4649Q

nonsynonymous SNV

0.243

0.119

PTEN

NM_000314

10

5

c.492 + 1G > A

p.V85Gfs*14

splicing

0.476

0.207

RLF

NM_012421

1

8

c.4563_4567del

p.I1521fs

frameshift deletion

0.357

0.218

TP53

NM_000546

17

8

c.G836A

p.G279E

nonsynonymous SNV

0.481

0.176

YY2

NM_206923

X

1

c.G813A

p.M271I

nonsynonymous SNV

0.614

0.176

  1. Details of mutated genes in both germ cell tumor (GCT) and acute myeloid leukemia (AML). a Chr Chromosome; b SNV Single nucleotide variant