Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110812310C>G | CA335549 | RBM20 | c.1913C>G (p.Pro638Arg) c.1529C>G (p.Pro510Arg) c.1748C>G (p.Pro583Arg) | ClinVar dbSNP |
10 | g.110812310C>T | CA251405 | RBM20 | c.1913C>T (p.Pro638Leu) c.1529C>T (p.Pro510Leu) c.1748C>T (p.Pro583Leu) | ClinVar dbSNP gnomAD v4 |
10 | g.110812310C>A | CA16042702 | RBM20 | c.1913C>A (p.Pro638Gln) c.1529C>A (p.Pro510Gln) c.1748C>A (p.Pro583Gln) | ClinVar dbSNP |