| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99142550A>C | CA16612811 | TGFBR1 | c.613A>C (p.Thr205Pro) c.625A>C (p.Thr209Pro) c.394A>C (p.Thr132Pro) c.382A>C (p.Thr128Pro) c.*616A>C (n.*616A>C) c.820A>C (p.Thr274Pro) c.589A>C (p.Thr197Pro) c.832A>C (p.Thr278Pro) | ClinVar dbSNP |
| 9 | g.99142550A>G | CA323920 | TGFBR1 | c.613A>G (p.Thr205Ala) c.625A>G (p.Thr209Ala) c.394A>G (p.Thr132Ala) c.382A>G (p.Thr128Ala) c.*616A>G (n.*616A>G) c.820A>G (p.Thr274Ala) c.589A>G (p.Thr197Ala) c.832A>G (p.Thr278Ala) | ClinVar dbSNP |
| 9 | g.99142550A>T | CA374230516 | TGFBR1 | c.613A>T (p.Thr205Ser) c.625A>T (p.Thr209Ser) c.394A>T (p.Thr132Ser) c.382A>T (p.Thr128Ser) c.*616A>T (n.*616A>T) c.820A>T (p.Thr274Ser) c.589A>T (p.Thr197Ser) c.832A>T (p.Thr278Ser) | dbSNP |