| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99149252C>G | CA374233718 | TGFBR1 | c.1252C>G (p.Arg418Gly) c.1264C>G (p.Arg422Gly) c.*381C>G (n.*381C>G) c.1021C>G (p.Arg341Gly) c.*1255C>G (n.*1255C>G) n.1026C>G c.1459C>G (p.Arg487Gly) c.1228C>G (p.Arg410Gly) c.*194C>G (n.*194C>G) c.1471C>G (p.Arg491Gly) | ClinVar dbSNP |
| 9 | g.99149252C>T | CA008768 | TGFBR1 | c.1252C>T (p.Arg418Trp) c.1264C>T (p.Arg422Trp) c.*381C>T (n.*381C>T) c.1021C>T (p.Arg341Trp) c.*1255C>T (n.*1255C>T) n.1026C>T c.1459C>T (p.Arg487Trp) c.1228C>T (p.Arg410Trp) c.*194C>T (n.*194C>T) c.1471C>T (p.Arg491Trp) | ClinVar dbSNP COSMIC |
| 9 | g.99149252C>A | CA466436263 | TGFBR1 | c.1252C>A (p.Arg418=) c.1264C>A (p.Arg422=) c.*381C>A (n.*381C>A) c.1021C>A (p.Arg341=) c.*1255C>A (n.*1255C>A) n.1026C>A c.1459C>A (p.Arg487=) c.1228C>A (p.Arg410=) c.*194C>A (n.*194C>A) c.1471C>A (p.Arg491=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |