| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99138081A>T | CA374230346 | TGFBR1 | c.590A>T (p.Asp197Val) c.602A>T (p.Asp201Val) c.380-4455A>T (n.380-4455A>T) c.359A>T (p.Asp120Val) c.*593A>T (n.*593A>T) c.797A>T (p.Asp266Val) c.566A>T (p.Asp189Val) c.809A>T (p.Asp270Val) | ClinVar dbSNP |
| 9 | g.99138081A>G | CA322019 | TGFBR1 | c.590A>G (p.Asp197Gly) c.602A>G (p.Asp201Gly) c.380-4455A>G (n.380-4455A>G) c.359A>G (p.Asp120Gly) c.*593A>G (n.*593A>G) c.797A>G (p.Asp266Gly) c.566A>G (p.Asp189Gly) c.809A>G (p.Asp270Gly) | ClinVar dbSNP |