| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916180T>A | CA254377 | ACVRL1 | c.923T>A (p.Ile308Asn) c.1193T>A (p.Ile398Asn) c.671T>A (p.Ile224Asn) n.468T>A c.1235T>A (p.Ile412Asn) c.198T>A c.404T>A (p.Ile135Asn) | ClinVar dbSNP |
| 12 | g.51916180T= | CA2036237090 | ACVRL1 | c.923T= (p.Ile308=) c.1193T= (p.Ile398=) c.671T= (p.Ile224=) n.468T= c.1235T= (p.Ile412=) c.198T= c.404T= (p.Ile135=) | dbSNP |