| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99137980G>A | CA466434207 | TGFBR1 | c.489G>A (p.Lys163=) c.501G>A (p.Lys167=) c.380-4556G>A (n.380-4556G>A) c.258G>A (p.Lys86=) c.*492G>A (n.*492G>A) c.696G>A (p.Lys232=) c.465G>A (p.Lys155=) c.708G>A (p.Lys236=) | dbSNP |
| 9 | g.99137980G>C | CA325117 | TGFBR1 | c.489G>C (p.Lys163Asn) c.501G>C (p.Lys167Asn) c.380-4556G>C (n.380-4556G>C) c.258G>C (p.Lys86Asn) c.*492G>C (n.*492G>C) c.696G>C (p.Lys232Asn) c.465G>C (p.Lys155Asn) c.708G>C (p.Lys236Asn) | ClinVar dbSNP COSMIC |
| 9 | g.99137980G>T | CA374229716 | TGFBR1 | c.489G>T (p.Lys163Asn) c.501G>T (p.Lys167Asn) c.380-4556G>T (n.380-4556G>T) c.258G>T (p.Lys86Asn) c.*492G>T (n.*492G>T) c.696G>T (p.Lys232Asn) c.465G>T (p.Lys155Asn) c.708G>T (p.Lys236Asn) | dbSNP gnomAD v4 |