Open davmlaw opened 3 months ago
At same time do references as well
a. Deletion – searching for incorrect reference base - ENST00000361381.2(MT-ND4):c.279delG (instead of A) b. SNV - ENST00000361381.2(MT-ND4):c.1A>C (instead of G) and ENST00000361381.2(MT-ND4):c.1T>G (instead of reference base of A) MT:10760 A>C (instead of G) MT:10760 T>G (instead of reference base of A) Expected output: Should show results with warnings
Issue split out of SACGF/variantgrid_private#3472
"There's no attempted substituting of refs or alts for IGV/Locus/VCF, only for HGVS searches."
Also reported against MT
Move out of HGVS into general purpose variant code if possible (or duplicate for other variant searches)