Skip to main content

Advertisement

Table 2 Candidate variants from targeted SNP analysis

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

LocusGeneMinor alleleAa changeSNP codeSIFTPolyPhengnomAD NFE AF
chr 14:68274264ZFYVE26T246 A/Drs367929006del (0)possibly dmg (0.79)0
chr 20:42788571JPH2C286 T/Ars144022614del (0)possibly dmg (0.45)0.14%
chr11:56380836OR5M1T48 L/Qrs183262731del (0)probably dmg (1)0.55%
chr22:39222627NPTXRA326 R/Wrs34637063del (0)possibly dmg (0.83)0.59%
chr11:533515HRASA130 A/SCOSV54248437del (0.04)possibly dmg (0.71)
chr10:73571765aCDH23C3130 F/Lrs45583140/ COSV56481145del (0.01)probably dmg (0.99)3.6%
10:73434888aCDH23C495 G/Ars1227049del (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%