User: mariafirulevabio

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Posts by mariafirulevabio

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Comment: C: SnpEff HGVS doesn't match to fields of ref and alt alleles
... Dear RamRS, I appreciate your help. Thanks for it and also for correcting my question. Best wishes, Maria. ...
written 10 days ago by mariafirulevabio0
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SnpEff HGVS doesn't match to fields of ref and alt alleles
... Dear all, I've read [SnpEff manual][1] and I'm confused by this example: > 22 17071756 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|CCT8L2|ENSG00000198445|transcript|ENST00000359963|protein_coding|1/1|c.*11A>G|||||11|,C|downstream_gene_variant|MODIFIER|FABP5P11|ENSG00000240122|transcript ...

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