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NM_153818.1:c.600+1G>A references an intronic variant, but it mapped to a processed transcript. Mutalyzer gives a fairly clear validation failure message:
#!python
Intronic position given for a non-genomic reference sequence.
while hgvs gives a less clear message:
#!python
Variant reference does not agree with reference sequence
Originally reported by: Kevin Jacobs (Bitbucket: bioinformed, GitHub: bioinformed)
NM_153818.1:c.600+1G>A references an intronic variant, but it mapped to a processed transcript. Mutalyzer gives a fairly clear validation failure message:
while hgvs gives a less clear message:
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