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Table 1 Classification of the identified coding SNPs based on their location in exonic regions and their effects on protein sequences

From: Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry

Classification $ Known SNPs Novel SNPs Known indels Novel indels
Init Codon 16 0 3 1
Non SNV 9197 193   
Splicing 68 2 44  
Stopgain 63 4 2 1
Stoploss 10 0   
Synonymous 10405 108   
Unknown 440 1 70 1
Del - - 84 3
FrameShift Del - - 42 8
FrameShift Ins - - 32 2
Ins - - 70 5
  1. $Legends to the class types.
  2. Splicing, Variant affects a nucleotide that is in a splicing region of a coding transcript.
  3. Init Codon, Variant changes the start codon.
  4. Frameshift Ins, An insertion that causes a shift in the codon reading frame.
  5. Frameshift Del, A deletion that causes a shift in the codon reading frame.
  6. Frameshift Sub, A substitution that causes a shift in the codon reading frame.
  7. Stopgain, Variant causes a stop codon to be created at the variant site.
  8. Stoploss, Variant changes a stop codon to something else.
  9. Ins, An insertion that does not cause a frameshift.
  10. Del, A deletion that does not cause a frameshift.
  11. Sub, A substitution that does not cause a frameshift.
  12. Nonsyn SNV, A single nucleotide variant that changes the amino acid produced by a codon.
  13. Synonymous, A variant affecting 1 or more nucleotides that does not change the amino acid sequence.
  14. Unknown, A problem was found with the protein coding sequence, See Invalid Transcripts.
  15. SNP & Variation Suite v8.1 (SVS) [Bozeman, MT: Golden Helix, Inc] was used for classifications.