| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30674130C>A | CA351808917 | TGFBR2 | c.1280C>A (p.Pro427Gln) n.2876C>A n.158C>A c.1355C>A (p.Pro452Gln) c.1307C>A (p.Pro436Gln) c.1232C>A (p.Pro411Gln) c.1175C>A (p.Pro392Gln) | dbSNP |
| 3 | g.30674130C>G | CA351808918 | TGFBR2 | c.1280C>G (p.Pro427Arg) n.2876C>G n.158C>G c.1355C>G (p.Pro452Arg) c.1307C>G (p.Pro436Arg) c.1232C>G (p.Pro411Arg) c.1175C>G (p.Pro392Arg) | dbSNP |
| 3 | g.30674130C>T | CA020649 | TGFBR2 | c.1280C>T (p.Pro427Leu) n.2876C>T n.158C>T c.1355C>T (p.Pro452Leu) c.1307C>T (p.Pro436Leu) c.1232C>T (p.Pro411Leu) c.1175C>T (p.Pro392Leu) | ClinVar dbSNP |