| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672249C>G | CA322326 | TGFBR2 | c.1066C>G (p.Arg356Gly) n.2662C>G c.1141C>G (p.Arg381Gly) c.1093C>G (p.Arg365Gly) c.1018C>G (p.Arg340Gly) c.961C>G (p.Arg321Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672249C>T | CA045560 | TGFBR2 | c.1066C>T (p.Arg356Trp) n.2662C>T c.1141C>T (p.Arg381Trp) c.1093C>T (p.Arg365Trp) c.1018C>T (p.Arg340Trp) c.961C>T (p.Arg321Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |