Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.119837771G>T | CA10503160 | UPF3B | c.1288C>A (p.Arg430=) c.162C>A c.1249C>A (p.Arg417=) c.*128C>A (n.*128C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.119837771G>A | CA121436 | UPF3B | c.1288C>T (p.Arg430Ter) c.162C>T c.1249C>T (p.Arg417Ter) c.*128C>T (n.*128C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |