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Table 1 List of 8 germline gene variation sites identified in the glioblastoma

From: Individualized combination therapies based on whole-exome sequencing displayed significant clinical benefits in a glioblastoma patient with secondary osteosarcoma: case report and genetic characterization

Gene

Chromosome

site

RSID

Gene type

Protein reference

Variant type

EPAS1

chr2

46,607,682

rs768469246

Heterozygote

p.A624D

Missense

SETD2

chr3

47,125,703

rs758229404

Heterozygote

p.N1856S

Missense

MSH3

chr5

79,950,708

NA

Heterozygote

p.A60_A62dup

Non-frame shift insertion

BMPR1A

chr10

88,679,172

NA

Heterozygote

p.K371T

Missense

ERCC4

chr16

14,015,937

rs187435008

Heterozygote

p.R86H

Missense

CDH1

chr16

68,867,343

rs142927667

Heterozygote

p.E864K

Missense

AR

chrX

66,765,158

rs3032358

Homozygote

p.Q79_Q8

0dupl

Non-frame shift insertion

AR

chrX

66,766,356

NA

Heterozygote

p.G473del

Non-frame shift deletion

  1. NA Not accessible