| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99137991C>A | CA374229748 | TGFBR1 | c.500C>A (p.Ser167Tyr) c.512C>A (p.Ser171Tyr) c.380-4545C>A (n.380-4545C>A) c.269C>A (p.Ser90Tyr) c.*503C>A (n.*503C>A) c.707C>A (p.Ser236Tyr) c.476C>A (p.Ser159Tyr) c.719C>A (p.Ser240Tyr) | dbSNP |
| 9 | g.99137991C>G | CA374229749 | TGFBR1 | c.500C>G (p.Ser167Cys) c.512C>G (p.Ser171Cys) c.380-4545C>G (n.380-4545C>G) c.269C>G (p.Ser90Cys) c.*503C>G (n.*503C>G) c.707C>G (p.Ser236Cys) c.476C>G (p.Ser159Cys) c.719C>G (p.Ser240Cys) | dbSNP |
| 9 | g.99137991C>T | CA321749 | TGFBR1 | c.500C>T (p.Ser167Phe) c.512C>T (p.Ser171Phe) c.380-4545C>T (n.380-4545C>T) c.269C>T (p.Ser90Phe) c.*503C>T (n.*503C>T) c.707C>T (p.Ser236Phe) c.476C>T (p.Ser159Phe) c.719C>T (p.Ser240Phe) | ClinVar dbSNP |