| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672127C>T | CA020555 | TGFBR2 | c.944C>T (p.Thr315Met) n.2540C>T c.1019C>T (p.Thr340Met) c.971C>T (p.Thr324Met) c.896C>T (p.Thr299Met) c.839C>T (p.Thr280Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672127C>G | CA351808220 | TGFBR2 | c.944C>G (p.Thr315Arg) n.2540C>G c.1019C>G (p.Thr340Arg) c.971C>G (p.Thr324Arg) c.896C>G (p.Thr299Arg) c.839C>G (p.Thr280Arg) | dbSNP |
| 3 | g.30672127C>A | CA351808219 | TGFBR2 | c.944C>A (p.Thr315Lys) n.2540C>A c.1019C>A (p.Thr340Lys) c.971C>A (p.Thr324Lys) c.896C>A (p.Thr299Lys) c.839C>A (p.Thr280Lys) | dbSNP |
| 3 | g.30672127C= | CA1354873142 | TGFBR2 | c.944C= (p.Thr315=) n.2540C= c.1019C= (p.Thr340=) c.971C= (p.Thr324=) c.896C= (p.Thr299=) c.839C= (p.Thr280=) | dbSNP |