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MULTIPLE CHOICE (2 or more are correct)
You have investigated the SNP: "rs2293152" using the gnomAD database.
Which bases generally can be found at the position of the SNP.
In which age group was the Ser763Leu mutation of STAT3 found most often using exome sequencing?
The Ser763Leu mutation of STAT3 has a higher frequency in:
You analyzed the STAT3 gene using gnomAD. What is the total allele frequency of the p.Ser763Leu mutation in STAT3 that is reported in the gnomAD database?
You also analyzed the STAT3 gene using gnomAD. What is the number of missense SNVs observed in this gene?
Check the point mutations found in the skin for STAT3 (COSMIC gene version: STAT3_ENST00000585517) in "Positive Data". What is the first mutation you can find? (Nucleotide substitution)?
Of the different substitutions, which one is the most common one in the STAT3 gene (gene version STAT3_ENST00000585517 in COSMIC)? (mutation distribution – substitution)
Which type of mutation is the most prominent one in the STAT3 gene (gene version: STAT3_ENST00000585517) according to the COSMIC database?
The mutations affecting amino acid position 299 of STAT3 (Gene version: STAT3_ENST00000585517) in the COSMIC database can cause multiple different amino acid changes – Which of the listed ones below is one of them?
You have investigated the STAT3 gene (version: STAT3_ENST00000585517) in the COSMIC database. What is (one of) the mutation(s) you find on a level of nucleotides at amino acid position 299?