Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.8640969T>A | CA379842108 | TRIM66 | c.971A>T (p.His324Leu) c.1295A>T (p.His432Leu) n.2341A>T c.1406A>T c.1406A>T (p.His469Leu) c.965A>T (p.His322Leu) n.1166A>T c.1148A>T (p.His383Leu) c.233A>T (p.His78Leu) c.-54-488A>T (n.-54-488A>T) n.2011A>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.8640969T>C | CA5872953 | TRIM66 | c.971A>G (p.His324Arg) c.1295A>G (p.His432Arg) n.2341A>G c.1406A>G c.1406A>G (p.His469Arg) c.965A>G (p.His322Arg) n.1166A>G c.1148A>G (p.His383Arg) c.233A>G (p.His78Arg) c.-54-488A>G (n.-54-488A>G) n.2011A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |