Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.30688476C>T | CA323609 | TGFBR2 | c.1489C>T (p.Arg497Ter) n.373C>T n.3085C>T n.367C>T c.1564C>T (p.Arg522Ter) c.1516C>T (p.Arg506Ter) c.1441C>T (p.Arg481Ter) c.1384C>T (p.Arg462Ter) | ClinVar dbSNP COSMIC COSMIC |
3 | g.30688476C>G | CA351809388 | TGFBR2 | c.1489C>G (p.Arg497Gly) n.373C>G n.3085C>G n.367C>G c.1564C>G (p.Arg522Gly) c.1516C>G (p.Arg506Gly) c.1441C>G (p.Arg481Gly) c.1384C>G (p.Arg462Gly) | dbSNP |
3 | g.30688476C>A | CA432917841 | TGFBR2 | c.1489C>A (p.Arg497=) n.373C>A n.3085C>A n.367C>A c.1564C>A (p.Arg522=) c.1516C>A (p.Arg506=) c.1441C>A (p.Arg481=) c.1384C>A (p.Arg462=) | dbSNP gnomAD v2 gnomAD v4 |