| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30691465G>T | CA020717 | TGFBR2 | c.1570G>T (p.Asp524Tyr) n.454G>T n.3166G>T n.448G>T c.1645G>T (p.Asp549Tyr) c.1597G>T (p.Asp533Tyr) c.1522G>T (p.Asp508Tyr) c.1465G>T (p.Asp489Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.30691465G>C | CA351809579 | TGFBR2 | c.1570G>C (p.Asp524His) n.454G>C n.3166G>C n.448G>C c.1645G>C (p.Asp549His) c.1597G>C (p.Asp533His) c.1522G>C (p.Asp508His) c.1465G>C (p.Asp489His) | dbSNP |
| 3 | g.30691465G>A | CA020712 | TGFBR2 | c.1570G>A (p.Asp524Asn) n.454G>A n.3166G>A n.448G>A c.1645G>A (p.Asp549Asn) c.1597G>A (p.Asp533Asn) c.1522G>A (p.Asp508Asn) c.1465G>A (p.Asp489Asn) | ClinVar dbSNP COSMIC COSMIC |