| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916108G>A | CA16614168 | ACVRL1 | c.851G>A (p.Arg284Gln) c.1121G>A (p.Arg374Gln) c.599G>A (p.Arg200Gln) n.396G>A c.1163G>A (p.Arg388Gln) c.126G>A c.332G>A (p.Arg111Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51916108G>C | CA384902407 | ACVRL1 | c.851G>C (p.Arg284Pro) c.1121G>C (p.Arg374Pro) c.599G>C (p.Arg200Pro) n.396G>C c.1163G>C (p.Arg388Pro) c.126G>C c.332G>C (p.Arg111Pro) | ClinVar dbSNP |