| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915388C>G | CA384901156 | ACVRL1 | c.666C>G (p.His222Gln) c.936C>G (p.His312Gln) c.414C>G (p.His138Gln) c.978C>G (p.His326Gln) c.147C>G (p.His49Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.51915388C= | CA2036269503 | ACVRL1 | c.666C= (p.His222=) c.936C= (p.His312=) c.414C= (p.His138=) c.978C= (p.His326=) c.147C= (p.His49=) | dbSNP |