| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672346A>T | CA351808670 | TGFBR2 | c.1163A>T (p.Lys388Met) n.2759A>T c.1238A>T (p.Lys413Met) c.1190A>T (p.Lys397Met) c.1115A>T (p.Lys372Met) c.1058A>T (p.Lys353Met) | dbSNP |
| 3 | g.30672346A>G | CA020623 | TGFBR2 | c.1163A>G (p.Lys388Arg) n.2759A>G c.1238A>G (p.Lys413Arg) c.1190A>G (p.Lys397Arg) c.1115A>G (p.Lys372Arg) c.1058A>G (p.Lys353Arg) | ClinVar dbSNP gnomAD v4 |