| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916218C>T | CA119402 | ACVRL1 | c.961C>T (p.Arg321Trp) c.1231C>T (p.Arg411Trp) c.709C>T (p.Arg237Trp) n.506C>T c.1273C>T (p.Arg425Trp) c.236C>T c.442C>T (p.Arg148Trp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51916218C= | CA2036237134 | ACVRL1 | c.961C= (p.Arg321=) c.1231C= (p.Arg411=) c.709C= (p.Arg237=) n.506C= c.1273C= (p.Arg425=) c.236C= c.442C= (p.Arg148=) | dbSNP |