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Download Nic`s genome contains 16124 variants, relative the human reference
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Transcript
Nic’s genome contains 16,124 variants, relative the human reference sequence. Protein coding variants …………………… 15,272 / 1,407 Insertions ………………………. 147 / 65 Deletions ……………………….. 239 / 119 Substitutions …………………. 14,886 / 1,223 Nonsynonymous variants ………………. 7,158 / 879 Insertions ………………………. 117 / 51 Deletions ……………………….. 232 / 112 Substitutions …………………. 6,799 / 706 From 16,124 variants 1 Homozygous or hemizygous ……………………………………………… 70 Predicted to be damaging ……………………………………………….. 17 Novel (against dbSNP 130) ……………………………………………….. 8 Altering highly conserved positions ………………………………….. 4 Not found in reference genome sequences ……………………… 2 Not known to frequently contain deleterious mutations …. 1 XIAP Clinical confirmation – by Sanger Sequencing UGU encodes Cys UAU encodes Tyr Only Nic amongst all humans and all these other animals have a Y at amino acid 203 of the XIAP gene humans are not that different than a shrew, or a chicken or a house fly!
