mutalyzer / mutalyzer2

HGVS variant nomenclature checker
https://mutalyzer.nl
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Inconsistent results between mutalyzer and ref genome fasta #501

Closed xiucz closed 4 years ago

xiucz commented 4 years ago

Hi, In the hg19 system, the base from positon chr20:31022959 in UCSC or NCBI fasta is T, however, mutalyzer gives is C .

I am a little puzzled which one is the right answer?

Xiucz. Thank you.

jfjlaros commented 4 years ago

The name checker gives the same result. Where does it say that there is a C at that position?

jfjlaros commented 4 years ago

Can not reproduce.