About the reference of 13:46108853
Created by: SamGLZ
Hi Mutalyzer,
Thank you for the wonderful tool! I have used it for years and it helped me a lot!
However, When I used Name-checker to search NM_031431.3:c.2474_2475invTG, I found that the reference nucleotides of position 13:46108853-46108854 are "CA" instead of "TG". I have checked the reference nucleotides in these positions on UCSC and NCBI, and results are both "TG". I have also checked gnomAD and found that the frequencies of these two variants were very high.
I may have some mistakes in checking the reference, but it does confuse me. It would be nice if someone can show me the reason for it. Thank you!
Sam