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Table 2 Candidate variants from targeted SNP analysis

From: Case report: recurrent pituitary adenoma has increased load of somatic variants

Locus

Gene

Minor allele

Aa change

SNP code

SIFT

PolyPhen

gnomAD NFE AF

chr 14:68274264

ZFYVE26

T

246 A/D

rs367929006

del (0)

possibly dmg (0.79)

0

chr 20:42788571

JPH2

C

286 T/A

rs144022614

del (0)

possibly dmg (0.45)

0.14%

chr11:56380836

OR5M1

T

48 L/Q

rs183262731

del (0)

probably dmg (1)

0.55%

chr22:39222627

NPTXR

A

326 R/W

rs34637063

del (0)

possibly dmg (0.83)

0.59%

chr11:533515

HRAS

A

130 A/S

COSV54248437

del (0.04)

possibly dmg (0.71)

–

chr10:73571765a

CDH23

C

3130 F/L

rs45583140/ COSV56481145

del (0.01)

probably dmg (0.99)

3.6%

10:73434888a

CDH23

C

495 G/A

rs1227049

del (0)

probably dmg (1)

17.2%

  1. Aa amino acid, SNP single nucleotide polymorphism, NFE non-Finnish European, AF allele frequency, del deleterious, dmg damaging
  2. acompound population frequency 0.6%