| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30674232G>C | CA351809143 | TGFBR2 | c.1382G>C (p.Cys461Ser) n.2978G>C n.260G>C c.1457G>C (p.Cys486Ser) c.1409G>C (p.Cys470Ser) c.1334G>C (p.Cys445Ser) c.1277G>C (p.Cys426Ser) | dbSNP |
| 3 | g.30674232G>A | CA020670 | TGFBR2 | c.1382G>A (p.Cys461Tyr) n.2978G>A n.260G>A c.1457G>A (p.Cys486Tyr) c.1409G>A (p.Cys470Tyr) c.1334G>A (p.Cys445Tyr) c.1277G>A (p.Cys426Tyr) | ClinVar dbSNP gnomAD v4 |