| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99132593T>A | CA322389 | TGFBR1 | c.221T>A (p.Leu74Ter) c.233T>A (p.Leu78Ter) c.136+3493T>A (n.136+3493T>A) c.*224T>A (n.*224T>A) c.428T>A (p.Leu143Ter) c.343+3493T>A (n.343+3493T>A) c.440T>A (p.Leu147Ter) | ClinVar dbSNP |
| 9 | g.99132593T= | CA1867274429 | TGFBR1 | c.221T= (p.Leu74=) c.233T= (p.Leu78=) c.136+3493T= (n.136+3493T=) c.*224T= (n.*224T=) c.428T= (p.Leu143=) c.343+3493T= (n.343+3493T=) c.440T= (p.Leu147=) | dbSNP |