Thanks for developing this amazing project.
We’re doing research on CRACD. Based on Mutation 21Q4 Public data, we found LS180 and LS513 have p.PK165fs mutations on CRACD. (BTW, is this annotation wrong? Should it be p.P165Kfs?)
Then, we bought LS180 and LS513 from ATCC. We isolated their genomic DNAs, PCR the exon 6, and did sanger sequencing of PCR product to check whether they have the p.PK165fs mutations. The reference sequence of exon 6 was determined by ensembl (https://useast.ensembl.org/Homo_sapiens/Transcript/Exons?db=core;g=ENSG00000109265;r=4:56049098-56330609;t=ENST00000504228). We matched the transcript version ENST00000504228.
However, we found no base is inserted at 165aa. Please see our Sanger results below.
Could you please help us to check this issue?