| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672189T>G | CA351808352 | TGFBR2 | c.1006T>G (p.Tyr336Asp) n.2602T>G c.1081T>G (p.Tyr361Asp) c.1033T>G (p.Tyr345Asp) c.958T>G (p.Tyr320Asp) c.901T>G (p.Tyr301Asp) | ClinVar dbSNP |
| 3 | g.30672189T>A | CA020575 | TGFBR2 | c.1006T>A (p.Tyr336Asn) n.2602T>A c.1081T>A (p.Tyr361Asn) c.1033T>A (p.Tyr345Asn) c.958T>A (p.Tyr320Asn) c.901T>A (p.Tyr301Asn) | ClinVar dbSNP |
| 3 | g.30672189T= | CA1354873173 | TGFBR2 | c.1006T= (p.Tyr336=) n.2602T= c.1081T= (p.Tyr361=) c.1033T= (p.Tyr345=) c.958T= (p.Tyr320=) c.901T= (p.Tyr301=) | dbSNP |