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mutalyzer / mutalyzer2

HGVS variant nomenclature checker
https://mutalyzer.nl
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The check position is not exactly the same as my query pos #529

Closed LiyanJi-code closed 2 years ago

LiyanJi-code commented 2 years ago

Hi, I encountered a strange error when I submitted a batch query. Here is an example of the error. NM_031276.2(TEX11):c.2042A>C (variantchecker): A not found at position 2127, found G instead.

The TEX11 gene in coding position 2042 is base A at the reference strand, however, the Mutalyzer2 gives a base at position 2127. image

Thanks a lot.

mihailefter commented 2 years ago

@LiyanJi-code

Please note that c.2042 corresponds to nucleotide 2127 relative to the NM_031276.2 sequence start. For more information please check also the following HGVS page.

LiyanJi-code commented 2 years ago

Many thanks

mihailefter @.***> 于2021年12月10日周五 16:07写道：

Closed #529 https://github.com/mutalyzer/mutalyzer2/issues/529.

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