mutalyzer / mutalyzer2

HGVS variant nomenclature checker
https://mutalyzer.nl
Other
98 stars 23 forks source link

mtDNA variants #406

Open jtdendunnen opened 8 years ago

jtdendunnen commented 8 years ago

using NC_012920.1:m.3243A>G in Mutalyzer's NameChecker gives a lengthy result. Since NC_012920.1 is THE reference for the human mtDNA sequence, maybe a good idea to clean this up, i.e. remove the 6 Warnings and the list of affected transcripts. Only NC_012920.1(TRNL1_v001):n.14A>G is correct.