| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915479C>T | CA16619570 | ACVRL1 | c.757C>T (p.Gln253Ter) c.1027C>T (p.Gln343Ter) c.505C>T (p.Gln169Ter) c.1069C>T (p.Gln357Ter) c.32C>T c.238C>T (p.Gln80Ter) | ClinVar dbSNP |
| 12 | g.51915479C= | CA2036269553 | ACVRL1 | c.757C= (p.Gln253=) c.1027C= (p.Gln343=) c.505C= (p.Gln169=) c.1069C= (p.Gln357=) c.32C= c.238C= (p.Gln80=) | dbSNP |
| 12 | g.51915479C>G | CA384901718 | ACVRL1 | c.757C>G (p.Gln253Glu) c.1027C>G (p.Gln343Glu) c.505C>G (p.Gln169Glu) c.1069C>G (p.Gln357Glu) c.32C>G c.238C>G (p.Gln80Glu) | dbSNP gnomAD v4 |